question
stringlengths
84
268
answer
stringlengths
6
879
reference_sequence
stringlengths
4.1k
4.1k
mutated_sequence
stringlengths
4.1k
4.1k
cleaned_pathogenicity
stringclasses
2 values
__index_level_0__
int64
67
343k
Variant at chromosome position 132897613, chromosome 9, gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
benign
GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGT
GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTG
benign
152,679
Is the genetic mutation found on chromosome 9 at position 132897613, within the gene TSC1 (TSC complex subunit 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
benign
GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGT
GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTT
benign
152,680
Gene mutation in TSC1 (TSC complex subunit 1) at chromosome 9, position 132897613—is it benign or pathogenic? If pathogenic, specify the disease(s).
benign
GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGT
GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTG
benign
152,681
Does the variant impacting TSC1 (TSC complex subunit 1) on chromosome 9, position 132897613, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
benign
GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGT
GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTNN
benign
152,682
Benign or pathogenic: chromosome 9, position 132897613, gene TSC1 (TSC complex subunit 1) variant? Disease(s) if pathogenic?
benign
GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGT
GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTNNNNN
benign
152,683
Is chromosome 9, position 132897613, gene TSC1 (TSC complex subunit 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
benign
GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGT
GTGCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTNNNNNN
benign
152,684
Variant on chromosome 9, at position 132897615, affecting TSC1 (TSC complex subunit 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
benign
GCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTCT
GCCAGCTCCAGATTTCTGAAACAGGCTTCTGTTTACACAGAACTTTCTAGGAAGCTTATCAGAACTGCCAAAAGAATGCAAGTATGAATAAACCGTTGTTCTTCTAGACCTGCTGCTTTAGATGCTGAACTTCAGAATCAAAAAAGCAGTCGGAAAGTCTCATGTAAACGCTTTCATGTAAAGACAACCAGCTTTGCAGGCTATGTCCTCCTGGAAGGGACAAAACCAGACTTACCTGCAATGCAACAAACTACCTGGTCTAATTGAGAGCCAACCCAGTTATCTGAACTTCGGGAAAGCAGAAAGTGGTGTGTTAGACTCAAAGATTAAATTTGGCCTCATATTGCACAGGTTCAAAGGACGCAACCATTTGGGGGGGAAAGGAAGAAAGTAAAGCTACTGAGGAACACCAACTGGCCCTTGGATTAGAACACACTGCGAGGTAAATGAGAGGGGGTTAGGGCGGGTGGAGGGGAAGGTCAAGAGGCATTTCAATGCCAGATCCAAAAACCGTTCTGCATTCAGTCAGCTGTCCAAAGGACCTCCGTCCCATTTCCACACATGAACTTGCACTCAGACCCTGGAAACAGGAAAGCTTTGAAACGTGCATTCACACCTCCTGTTCTGTGCCAACAATATGCAAGTTAACACTGATTGACCATCATTCCTTAGCTGTGTTCATGATGAGTCTCATTGTAGTCCATGATATGTAGCTGTCCAACACTGTCCGGGGTCGGGGGAGACGGGTGAGGGCCATCTAGGTTCAGGGGAATCTTGGCTTCCACACCCAAGTCTTTGCCCAGTTCTGTCTTTAGGCTCTCAGAAAGGCTACTGGTCATGCCGTCCTCATCACACTGGCTCTCGCTCTTATTACGAAATAACTCTCGAGCCTTCATACCCAGGAAGCTTTTTGAACTGGGAAGTGAGCCCACAGTGGTGGGGATGCTGGCAGACGCTTCTCCCATAGTCGTCTCCCACCGACTGCTGAATGGGCCTGCCCTCTGGTGTGGGGGTTTCTCTGGGGTAGAAAGCTCGCTGCTGCTGCTGCTGCTGCCTCCACCACCTCTGCTTCCACTACTGCCCCGGGCGCTGCTGGGCCTGGGGGTCTTGGTCTCACCGTTGTGGCCAGATGCCTCTTCATTGTGCCCTACCATGGAATCTGAGCACCCGTCATTACAACAGTCAAGCCTGTAAGAAAGCCGGGGAGGAAAAAAGGAGCTGGTGATTGGACTGTCCACATTCGGAGGATGTGGAATTACACTGACACTCACTCACACTGACACTGAACTCCGCTAGCCCACTCTCTGTTTTATAATACTGGACTCAAGAGATCTCATCAAGAGAAACCTAAATCACAACTAGGGATAGTAGGTGGCAATCTTAAGTGTGAACACTTCCTGTGGCCATATGGAGGGACTCAAGGCCAGGAACACGAACACGAAGAGATCACTGGGCGTTTTGAGGAAAGGAACGTCAGAGTGGGTCTCTGACACGGAGTGAGCTGAGTGTTGCAGCCTGTCTAGTCAGCAGTAACTGCTTCCCACACCACGTGACACAGTCCTTATGCTGGAATTGGCAGCTTAGTCCCAAGGTCATGAATCAGTTCTTTGTTCCTACCTTTCTTCTGCTGCTTCAGCTGCTTCTGCTTTTTCTTCTTCAAGTTTTTTCAGGAGGCCATCTTTCTCCAACCTGCCATATAAATCTAAGATCTCCAATTCAAACACCTGGGTTATCCTTTTCTGAGCCTCATACCTGCTCTCTGCGGCCTGCAGCTGTCCTCTGAAAGATACAGACCAGCCAGAATATAGGAAGTTCCACTTAATAAAAACACAAAAGCCTTTCCTGATGAAAGTTACCTTGCCTGGAGTTTGACATCCTCTAGATATTTCTTCTGTTCCAAAAGAAGGTGGTCTTTCTTGGCCAGGTGAGATTCCAGTTCCAAAATCCGTTTTTGGGAGGTATCAAGCCTCTGAGTCTGCTGGAGAACATGGCTTCTGTTTTTTTCTAGCTCTTTCCGATAGGCGGCTTTCATCATTTCTACTTCCTGAAAGAAAAAAAAAAAAAAAAGACTGGAATTAGTACTTATAAAAAATAAACATGCTGTATCCATTTTGAAAAGACAATGTAAGAAGGACTGAGAAGGCATTTTAGTATACTGATAACAGAAATATAAACTAGTACAACTTTATGGAAAGTAAGCTGGTAGTATTATCCTAGTAACCCTTCCTTGAAATCTATCCCCAAGCAAATCATGTGAAACATAAATAGAGATTTTGCACAAAAATAATCATCACAGCATATTTATAAGAGCAAAAACCTGGAAACATCGTTTAAGTCTAATGTCAGGGGAACAGTTAAGTAAATTAAAATACATCCTATATTTCTAAGTCTTTTTAAAAAATGATATGGTGTCAGTAAAAAGATTAAAAAGCAGACTACAAGACTGTGTGAATAGTACAATCAACTATGCGAACATATACATATACAAAACACCAAGTGAAAATACGCCACTATCCAGTTATCATTTCAGTCCAGTGGTACCGCAGGTCACTTGCTTTCCTTTCTCCTTTTCTCCCCCTCCTGACAATAGCGCAGGTGAGGCTACAGAATGGAATGCCAATGGAGCAGGTCTGCTCAAGCAAAGCAGCCTTTGCAGACTGGATGCCCTGACAAGGTTTGTTGATCGTGCTAAGGCAGATGGCCTGCTGCCGACAGATTGGAACAGCTTGAAACCCAGAGCAAGTACACACTAATGCTCAGAAAGAAGGCGGAAAGGGTATTTTTTTAAGCCTGTGTTACATTTGTGTGTGTATGTTTACCGTGGTAAAATATACAAAACACAAAACTTGCCATATATTTGTTTTTTAAAAAAGATAATAAACCATAAACAGCAAGGAGATGAGCTTTCACGAAGGCGCCCTGCCTTGATGCTGTCTGGTAAGCCCAATGCTTCCTTGTTATAGAACGCAACTGATTGAAACTCAGAACTGGCTCTCGGATAATGCGGCTGTTCCAGCTGTGCTAAATGGCTCGACTTCAGCACAGGGTGGATGAACGCATCTATCTGGCCTTCGTCATAAACAACAGGACTTATTCATGGATAATCATGCAAAGCATTGAACCAGGAACATCCGTGCACTCTCACTAATCCTTACAGCTACCCCTACCAACTGTTCCCACCTGATTCCCCACCACTCACTCTTCCTCCTCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGT
benign
152,686
Is the genetic variant on chromosome 9, position 132900821, gene TSC1 (TSC complex subunit 1), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Tuberous_sclerosis_1']
TCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCTGTTCCCAGTCATTACACCTCCAAAATAAGTGATAGCTGCTTTCTAGAGAAAGTCCCACACCTAACATCCTTCTAAAAAAGGGAGTCTGAATCTGAGAGCTGAGAGGAGCCAAGAAATAAAGAGTAACTCTATTAGGAAAATTACTCTCTCCAGTTCTAAGACTCCTCTCTACATCCGGCCGAAAAAGACTCTTTACAAAGCACATGCCCAAGAAACCCAAAAAGAAGGCCCATGTGTGATGGAGAAGTTAGTGACAGGAAGTATCTGAACAGCTACTATTAAAATTCAATTCCCACCTCATTCACTAACATTACCTGAGGCTATTTATAAAGTGACTTAAAACTTCTGCCTCGACACCACTGGTGAGGCACTAATTAATGTAAGATCATCCCAATGCTGGCCTTGTTGCCAGGACTGAACTACCATCTGCAGAAATCCAACATTAAAAGGAAAAAAAAAAATGGTATGTACAGCACTCTATATCCATGGTCCTGAGAGGTATGTTAAACAGAATTGGTCCCCCATCCTTCTTTTTCTCTCTCCCTCTTTGAAAGGCAGCCTAGGGAAGAGAAAGGAAACACTTTACACCTACTCTCTACCAACTACCATTAGGTGCTTTCAGTGTGAGTTAACTTCAAAGCAACCCAATAGGAGAAACAAGCTCACATGGTGGCTGGAAAGTGCTTGTATAGCTGGACCACGGAGTAGTGGGACTGCCGCTCCGTCTTTTAGGAAATAAGTCATCAAGCCATTCTCTATGCCATGCGGGAGACATACTGTCTGGGTCTGAAACGCTTTCCCCACTAAGGTCTGGCTCCCGAGCCCTGGCATACCTTTGTGGTATCTGAGTGCTTGTTCTGCAGTTGTTCCAAATAGAGCTCGTTGACCTCCCCAAGAACCAACAGCTGCCTGTTCAAGAACTCCATCTGCTGCTGGACCGACTCACTGTTTGAGAGCTAACCAAAAAACATGAGCAAAGTGAAAAATCCGACGACATAAAACTAGCACATAGACGTCATTAAACAGGGAATCAGCTAGGAGCACACTATTTCAATGTTAAGGCAAAATAAACCAGTCCCATGGGTTCACAGTCCCTGACATAATGGCAGGTGGGGAGGATGGTACCCAAGGACAACAAAAATAGACAGAAACACACTTCAGAACTGTGCTTTGCAAAGGGGACAGCACAAATGCAGTCCATCAAACTGACCACCCACAGAACACCTGGAGAAGGTGGACAGGTATACCACCAAGGCCCAGTGGCATAAAGCCCTAGGGAAAACTCACCGTTCTTGACAAAATGATGTATGAAGTGCAGTGATTCCCAAAGAAGGAGGAATCACGCTCAAAAACCTGAACAAACTTTTGACATTTATGTAAACAAGGTATGAAGAAAGAGTTCCATGGGATACACATAGAGCAGGGTTTAGGATGGATACTTCTTTGTTGCAGGGGGCTGCCTGTGCATTGTAGGATATTTGGCAGCACCCTGGCTCCTACCCACTGGATACCAGCAGCACCAAAAACATGAACCTAAAATGTCTCCAGACATTGCCAAATGTCAGGGACTATGGGGGCAGCAGAACCACTTCCTGTTGGGAACCCATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGAAACCTGACTGAGCAGCAGCTCAGTGTGACACACCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGA
TCCTTTGGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCTGTTCCCAGTCATTACACCTCCAAAATAAGTGATAGCTGCTTTCTAGAGAAAGTCCCACACCTAACATCCTTCTAAAAAAGGGAGTCTGAATCTGAGAGCTGAGAGGAGCCAAGAAATAAAGAGTAACTCTATTAGGAAAATTACTCTCTCCAGTTCTAAGACTCCTCTCTACATCCGGCCGAAAAAGACTCTTTACAAAGCACATGCCCAAGAAACCCAAAAAGAAGGCCCATGTGTGATGGAGAAGTTAGTGACAGGAAGTATCTGAACAGCTACTATTAAAATTCAATTCCCACCTCATTCACTAACATTACCTGAGGCTATTTATAAAGTGACTTAAAACTTCTGCCTCGACACCACTGGTGAGGCACTAATTAATGTAAGATCATCCCAATGCTGGCCTTGTTGCCAGGACTGAACTACCATCTGCAGAAATCCAACATTAAAAGGAAAAAAAAAAATGGTATGTACAGCACTCTATATCCATGGTCCTGAGAGGTATGTTAAACAGAATTGGTCCCCCATCCTTCTTTTTCTCTCTCCCTCTTTGAAAGGCAGCCTAGGGAAGAGAAAGGAAACACTTTACACCTACTCTCTACCAACTACCATTAGGTGCTTTCAGTGTGAGTTAACTTCAAAGCAACCCAATAGGAGAAACAAGCTCACATGGTGGCTGGAAAGTGCTTGTATAGCTGGACCACGGAGTAGTGGGACTGCCGCTCCGTCTTTTAGGAAATAAGTCATCAAGCCATTCTCTATGCCATGCGGGAGACATACTGTCTGGGTCTGAAACGCTTTCCCCACTAAGGTCTGGCTCCCGAGCCCTGGCATACCTTTGTGGTATCTGAGTGCTTGTTCTGCAGTTGTTCCAAATAGAGCTCGTTGACCTCCCCAAGAACCAACAGCTGCCTGTTCAAGAACTCCATCTGCTGCTGGACCGACTGTTTGAGAGCTAACCAAAAAACATGAGCAAAGTGAAAAATCCGACGACATAAAACTAGCACATAGACGTCATTAAACAGGGAATCAGCTAGGAGCACACTATTTCAATGTTAAGGCAAAATAAACCAGTCCCATGGGTTCACAGTCCCTGACATAATGGCAGGTGGGGAGGATGGTACCCAAGGACAACAAAAATAGACAGAAACACACTTCAGAACTGTGCTTTGCAAAGGGGACAGCACAAATGCAGTCCATCAAACTGACCACCCACAGAACACCTGGAGAAGGTGGACAGGTATACCACCAAGGCCCAGTGGCATAAAGCCCTAGGGAAAACTCACCGTTCTTGACAAAATGATGTATGAAGTGCAGTGATTCCCAAAGAAGGAGGAATCACGCTCAAAAACCTGAACAAACTTTTGACATTTATGTAAACAAGGTATGAAGAAAGAGTTCCATGGGATACACATAGAGCAGGGTTTAGGATGGATACTTCTTTGTTGCAGGGGGCTGCCTGTGCATTGTAGGATATTTGGCAGCACCCTGGCTCCTACCCACTGGATACCAGCAGCACCAAAAACATGAACCTAAAATGTCTCCAGACATTGCCAAATGTCAGGGACTATGGGGGCAGCAGAACCACTTCCTGTTGGGAACCCATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGAAACCTGACTGAGCAGCAGCTCAGTGTGACACACCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGANNNN
pathogenic
152,710
Does the variant impacting TSC1 (TSC complex subunit 1) on chromosome 9, position 132900827, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Cortical_tubers', 'Isolated_focal_cortical_dysplasia_type_II', 'Lymphangiomyomatosis', 'Multiple_renal_cysts', 'Seizure', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
GGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCTGTTCCCAGTCATTACACCTCCAAAATAAGTGATAGCTGCTTTCTAGAGAAAGTCCCACACCTAACATCCTTCTAAAAAAGGGAGTCTGAATCTGAGAGCTGAGAGGAGCCAAGAAATAAAGAGTAACTCTATTAGGAAAATTACTCTCTCCAGTTCTAAGACTCCTCTCTACATCCGGCCGAAAAAGACTCTTTACAAAGCACATGCCCAAGAAACCCAAAAAGAAGGCCCATGTGTGATGGAGAAGTTAGTGACAGGAAGTATCTGAACAGCTACTATTAAAATTCAATTCCCACCTCATTCACTAACATTACCTGAGGCTATTTATAAAGTGACTTAAAACTTCTGCCTCGACACCACTGGTGAGGCACTAATTAATGTAAGATCATCCCAATGCTGGCCTTGTTGCCAGGACTGAACTACCATCTGCAGAAATCCAACATTAAAAGGAAAAAAAAAAATGGTATGTACAGCACTCTATATCCATGGTCCTGAGAGGTATGTTAAACAGAATTGGTCCCCCATCCTTCTTTTTCTCTCTCCCTCTTTGAAAGGCAGCCTAGGGAAGAGAAAGGAAACACTTTACACCTACTCTCTACCAACTACCATTAGGTGCTTTCAGTGTGAGTTAACTTCAAAGCAACCCAATAGGAGAAACAAGCTCACATGGTGGCTGGAAAGTGCTTGTATAGCTGGACCACGGAGTAGTGGGACTGCCGCTCCGTCTTTTAGGAAATAAGTCATCAAGCCATTCTCTATGCCATGCGGGAGACATACTGTCTGGGTCTGAAACGCTTTCCCCACTAAGGTCTGGCTCCCGAGCCCTGGCATACCTTTGTGGTATCTGAGTGCTTGTTCTGCAGTTGTTCCAAATAGAGCTCGTTGACCTCCCCAAGAACCAACAGCTGCCTGTTCAAGAACTCCATCTGCTGCTGGACCGACTCACTGTTTGAGAGCTAACCAAAAAACATGAGCAAAGTGAAAAATCCGACGACATAAAACTAGCACATAGACGTCATTAAACAGGGAATCAGCTAGGAGCACACTATTTCAATGTTAAGGCAAAATAAACCAGTCCCATGGGTTCACAGTCCCTGACATAATGGCAGGTGGGGAGGATGGTACCCAAGGACAACAAAAATAGACAGAAACACACTTCAGAACTGTGCTTTGCAAAGGGGACAGCACAAATGCAGTCCATCAAACTGACCACCCACAGAACACCTGGAGAAGGTGGACAGGTATACCACCAAGGCCCAGTGGCATAAAGCCCTAGGGAAAACTCACCGTTCTTGACAAAATGATGTATGAAGTGCAGTGATTCCCAAAGAAGGAGGAATCACGCTCAAAAACCTGAACAAACTTTTGACATTTATGTAAACAAGGTATGAAGAAAGAGTTCCATGGGATACACATAGAGCAGGGTTTAGGATGGATACTTCTTTGTTGCAGGGGGCTGCCTGTGCATTGTAGGATATTTGGCAGCACCCTGGCTCCTACCCACTGGATACCAGCAGCACCAAAAACATGAACCTAAAATGTCTCCAGACATTGCCAAATGTCAGGGACTATGGGGGCAGCAGAACCACTTCCTGTTGGGAACCCATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGAAACCTGACTGAGCAGCAGCTCAGTGTGACACACCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTC
GGATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCTGTTCCCAGTCATTACACCTCCAAAATAAGTGATAGCTGCTTTCTAGAGAAAGTCCCACACCTAACATCCTTCTAAAAAAGGGAGTCTGAATCTGAGAGCTGAGAGGAGCCAAGAAATAAAGAGTAACTCTATTAGGAAAATTACTCTCTCCAGTTCTAAGACTCCTCTCTACATCCGGCCGAAAAAGACTCTTTACAAAGCACATGCCCAAGAAACCCAAAAAGAAGGCCCATGTGTGATGGAGAAGTTAGTGACAGGAAGTATCTGAACAGCTACTATTAAAATTCAATTCCCACCTCATTCACTAACATTACCTGAGGCTATTTATAAAGTGACTTAAAACTTCTGCCTCGACACCACTGGTGAGGCACTAATTAATGTAAGATCATCCCAATGCTGGCCTTGTTGCCAGGACTGAACTACCATCTGCAGAAATCCAACATTAAAAGGAAAAAAAAAAATGGTATGTACAGCACTCTATATCCATGGTCCTGAGAGGTATGTTAAACAGAATTGGTCCCCCATCCTTCTTTTTCTCTCTCCCTCTTTGAAAGGCAGCCTAGGGAAGAGAAAGGAAACACTTTACACCTACTCTCTACCAACTACCATTAGGTGCTTTCAGTGTGAGTTAACTTCAAAGCAACCCAATAGGAGAAACAAGCTCACATGGTGGCTGGAAAGTGCTTGTATAGCTGGACCACGGAGTAGTGGGACTGCCGCTCCGTCTTTTAGGAAATAAGTCATCAAGCCATTCTCTATGCCATGCGGGAGACATACTGTCTGGGTCTGAAACGCTTTCCCCACTAAGGTCTGGCTCCCGAGCCCTGGCATACCTTTGTGGTATCTGAGTGCTTGTTCTGCAGTTGTTCCAAATAGAGCTCGTTGACCTCCCCAAGAACCAACAGCTGCCTGTTCAAGAACTCCATCTGCTGCTGGACCGACTCACTGAGAGCTAACCAAAAAACATGAGCAAAGTGAAAAATCCGACGACATAAAACTAGCACATAGACGTCATTAAACAGGGAATCAGCTAGGAGCACACTATTTCAATGTTAAGGCAAAATAAACCAGTCCCATGGGTTCACAGTCCCTGACATAATGGCAGGTGGGGAGGATGGTACCCAAGGACAACAAAAATAGACAGAAACACACTTCAGAACTGTGCTTTGCAAAGGGGACAGCACAAATGCAGTCCATCAAACTGACCACCCACAGAACACCTGGAGAAGGTGGACAGGTATACCACCAAGGCCCAGTGGCATAAAGCCCTAGGGAAAACTCACCGTTCTTGACAAAATGATGTATGAAGTGCAGTGATTCCCAAAGAAGGAGGAATCACGCTCAAAAACCTGAACAAACTTTTGACATTTATGTAAACAAGGTATGAAGAAAGAGTTCCATGGGATACACATAGAGCAGGGTTTAGGATGGATACTTCTTTGTTGCAGGGGGCTGCCTGTGCATTGTAGGATATTTGGCAGCACCCTGGCTCCTACCCACTGGATACCAGCAGCACCAAAAACATGAACCTAAAATGTCTCCAGACATTGCCAAATGTCAGGGACTATGGGGGCAGCAGAACCACTTCCTGTTGGGAACCCATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGAAACCTGACTGAGCAGCAGCTCAGTGTGACACACCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCNNNN
pathogenic
152,712
The genetic variant at chromosome 9, position 132900829, affecting gene TSC1 (TSC complex subunit 1): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
ATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCTGTTCCCAGTCATTACACCTCCAAAATAAGTGATAGCTGCTTTCTAGAGAAAGTCCCACACCTAACATCCTTCTAAAAAAGGGAGTCTGAATCTGAGAGCTGAGAGGAGCCAAGAAATAAAGAGTAACTCTATTAGGAAAATTACTCTCTCCAGTTCTAAGACTCCTCTCTACATCCGGCCGAAAAAGACTCTTTACAAAGCACATGCCCAAGAAACCCAAAAAGAAGGCCCATGTGTGATGGAGAAGTTAGTGACAGGAAGTATCTGAACAGCTACTATTAAAATTCAATTCCCACCTCATTCACTAACATTACCTGAGGCTATTTATAAAGTGACTTAAAACTTCTGCCTCGACACCACTGGTGAGGCACTAATTAATGTAAGATCATCCCAATGCTGGCCTTGTTGCCAGGACTGAACTACCATCTGCAGAAATCCAACATTAAAAGGAAAAAAAAAAATGGTATGTACAGCACTCTATATCCATGGTCCTGAGAGGTATGTTAAACAGAATTGGTCCCCCATCCTTCTTTTTCTCTCTCCCTCTTTGAAAGGCAGCCTAGGGAAGAGAAAGGAAACACTTTACACCTACTCTCTACCAACTACCATTAGGTGCTTTCAGTGTGAGTTAACTTCAAAGCAACCCAATAGGAGAAACAAGCTCACATGGTGGCTGGAAAGTGCTTGTATAGCTGGACCACGGAGTAGTGGGACTGCCGCTCCGTCTTTTAGGAAATAAGTCATCAAGCCATTCTCTATGCCATGCGGGAGACATACTGTCTGGGTCTGAAACGCTTTCCCCACTAAGGTCTGGCTCCCGAGCCCTGGCATACCTTTGTGGTATCTGAGTGCTTGTTCTGCAGTTGTTCCAAATAGAGCTCGTTGACCTCCCCAAGAACCAACAGCTGCCTGTTCAAGAACTCCATCTGCTGCTGGACCGACTCACTGTTTGAGAGCTAACCAAAAAACATGAGCAAAGTGAAAAATCCGACGACATAAAACTAGCACATAGACGTCATTAAACAGGGAATCAGCTAGGAGCACACTATTTCAATGTTAAGGCAAAATAAACCAGTCCCATGGGTTCACAGTCCCTGACATAATGGCAGGTGGGGAGGATGGTACCCAAGGACAACAAAAATAGACAGAAACACACTTCAGAACTGTGCTTTGCAAAGGGGACAGCACAAATGCAGTCCATCAAACTGACCACCCACAGAACACCTGGAGAAGGTGGACAGGTATACCACCAAGGCCCAGTGGCATAAAGCCCTAGGGAAAACTCACCGTTCTTGACAAAATGATGTATGAAGTGCAGTGATTCCCAAAGAAGGAGGAATCACGCTCAAAAACCTGAACAAACTTTTGACATTTATGTAAACAAGGTATGAAGAAAGAGTTCCATGGGATACACATAGAGCAGGGTTTAGGATGGATACTTCTTTGTTGCAGGGGGCTGCCTGTGCATTGTAGGATATTTGGCAGCACCCTGGCTCCTACCCACTGGATACCAGCAGCACCAAAAACATGAACCTAAAATGTCTCCAGACATTGCCAAATGTCAGGGACTATGGGGGCAGCAGAACCACTTCCTGTTGGGAACCCATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGAAACCTGACTGAGCAGCAGCTCAGTGTGACACACCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCAT
ATGGAACAAGAGCAACCCTAGCTCCAGGTTCAGGAGCAAATCCTGACTGGGTTGAGGCAATGACTAGGCTAGGGATGGGCACAGGACAGGCCTGGCCAACAGGGGTGATGAGAAGTATGGTGGGATCATCTGGGAAAGGTTTTCTTTTCCTTTTCTTTTTTTTGGAGACAGAGTCTTGCTCTGTTGACCGGGCTGGAGTGCAGTGGCGTGATCTCGGCCCACTGAAACCTCCGCCTCCGGGGTTCAAGCGATTCCCCTGCCTCAGCTCCCCAAGTAGCTGGGACTACAAGTGTGCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGATGGTCTCGTTCTCCTAACCTCGTGATCCACCCGCCTCGGCCTACCAAAGTGCTGGGATTACAAGCATGAGCCACCACGTCCAGCCTGGGAAAGATTTTCTTGCTGAGGAATAGGAAGAGATGCTCTCCTCTTCTGTGGGGACATCATTGTGTCTGCCTGTCATATCTGTGCCTGTGGCACACACCTGGCAACCATGAGTGCAGCTAGCTGGAAGACAAGGTCTGCAGGATAAGCAAGGCAGTGCAGAAGAGTGGAAAGAGCCTGGCTCCTCGATGCTGTCCCTGAATGGCCAACTTGACCAACCTGGAACTCACCTGCCTCACAACCTCTTGTCAAGTGAAACAATACAGTTCTTCACTGTTAAGCCAGTTGAGTGCTTTTTGTTTTTGTTGTTTTTTTGGATATTGTTAGGCTTGGTCTAGAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCTGTTCCCAGTCATTACACCTCCAAAATAAGTGATAGCTGCTTTCTAGAGAAAGTCCCACACCTAACATCCTTCTAAAAAAGGGAGTCTGAATCTGAGAGCTGAGAGGAGCCAAGAAATAAAGAGTAACTCTATTAGGAAAATTACTCTCTCCAGTTCTAAGACTCCTCTCTACATCCGGCCGAAAAAGACTCTTTACAAAGCACATGCCCAAGAAACCCAAAAAGAAGGCCCATGTGTGATGGAGAAGTTAGTGACAGGAAGTATCTGAACAGCTACTATTAAAATTCAATTCCCACCTCATTCACTAACATTACCTGAGGCTATTTATAAAGTGACTTAAAACTTCTGCCTCGACACCACTGGTGAGGCACTAATTAATGTAAGATCATCCCAATGCTGGCCTTGTTGCCAGGACTGAACTACCATCTGCAGAAATCCAACATTAAAAGGAAAAAAAAAAATGGTATGTACAGCACTCTATATCCATGGTCCTGAGAGGTATGTTAAACAGAATTGGTCCCCCATCCTTCTTTTTCTCTCTCCCTCTTTGAAAGGCAGCCTAGGGAAGAGAAAGGAAACACTTTACACCTACTCTCTACCAACTACCATTAGGTGCTTTCAGTGTGAGTTAACTTCAAAGCAACCCAATAGGAGAAACAAGCTCACATGGTGGCTGGAAAGTGCTTGTATAGCTGGACCACGGAGTAGTGGGACTGCCGCTCCGTCTTTTAGGAAATAAGTCATCAAGCCATTCTCTATGCCATGCGGGAGACATACTGTCTGGGTCTGAAACGCTTTCCCCACTAAGGTCTGGCTCCCGAGCCCTGGCATACCTTTGTGGTATCTGAGTGCTTGTTCTGCAGTTGTTCCAAATAGAGCTCGTTGACCTCCCCAAGAACCAACAGCTGCCTGTTCAAGAACTCCATCTGCTGCTGGACCGACTCACTGTTTTGAGAGCTAACCAAAAAACATGAGCAAAGTGAAAAATCCGACGACATAAAACTAGCACATAGACGTCATTAAACAGGGAATCAGCTAGGAGCACACTATTTCAATGTTAAGGCAAAATAAACCAGTCCCATGGGTTCACAGTCCCTGACATAATGGCAGGTGGGGAGGATGGTACCCAAGGACAACAAAAATAGACAGAAACACACTTCAGAACTGTGCTTTGCAAAGGGGACAGCACAAATGCAGTCCATCAAACTGACCACCCACAGAACACCTGGAGAAGGTGGACAGGTATACCACCAAGGCCCAGTGGCATAAAGCCCTAGGGAAAACTCACCGTTCTTGACAAAATGATGTATGAAGTGCAGTGATTCCCAAAGAAGGAGGAATCACGCTCAAAAACCTGAACAAACTTTTGACATTTATGTAAACAAGGTATGAAGAAAGAGTTCCATGGGATACACATAGAGCAGGGTTTAGGATGGATACTTCTTTGTTGCAGGGGGCTGCCTGTGCATTGTAGGATATTTGGCAGCACCCTGGCTCCTACCCACTGGATACCAGCAGCACCAAAAACATGAACCTAAAATGTCTCCAGACATTGCCAAATGTCAGGGACTATGGGGGCAGCAGAACCACTTCCTGTTGGGAACCCATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGAAACCTGACTGAGCAGCAGCTCAGTGTGACACACCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCA
pathogenic
152,713
Mutation at chromosome 9, position 132901610, within TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Tuberous_sclerosis_1']
GAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCTGTTCCCAGTCATTACACCTCCAAAATAAGTGATAGCTGCTTTCTAGAGAAAGTCCCACACCTAACATCCTTCTAAAAAAGGGAGTCTGAATCTGAGAGCTGAGAGGAGCCAAGAAATAAAGAGTAACTCTATTAGGAAAATTACTCTCTCCAGTTCTAAGACTCCTCTCTACATCCGGCCGAAAAAGACTCTTTACAAAGCACATGCCCAAGAAACCCAAAAAGAAGGCCCATGTGTGATGGAGAAGTTAGTGACAGGAAGTATCTGAACAGCTACTATTAAAATTCAATTCCCACCTCATTCACTAACATTACCTGAGGCTATTTATAAAGTGACTTAAAACTTCTGCCTCGACACCACTGGTGAGGCACTAATTAATGTAAGATCATCCCAATGCTGGCCTTGTTGCCAGGACTGAACTACCATCTGCAGAAATCCAACATTAAAAGGAAAAAAAAAAATGGTATGTACAGCACTCTATATCCATGGTCCTGAGAGGTATGTTAAACAGAATTGGTCCCCCATCCTTCTTTTTCTCTCTCCCTCTTTGAAAGGCAGCCTAGGGAAGAGAAAGGAAACACTTTACACCTACTCTCTACCAACTACCATTAGGTGCTTTCAGTGTGAGTTAACTTCAAAGCAACCCAATAGGAGAAACAAGCTCACATGGTGGCTGGAAAGTGCTTGTATAGCTGGACCACGGAGTAGTGGGACTGCCGCTCCGTCTTTTAGGAAATAAGTCATCAAGCCATTCTCTATGCCATGCGGGAGACATACTGTCTGGGTCTGAAACGCTTTCCCCACTAAGGTCTGGCTCCCGAGCCCTGGCATACCTTTGTGGTATCTGAGTGCTTGTTCTGCAGTTGTTCCAAATAGAGCTCGTTGACCTCCCCAAGAACCAACAGCTGCCTGTTCAAGAACTCCATCTGCTGCTGGACCGACTCACTGTTTGAGAGCTAACCAAAAAACATGAGCAAAGTGAAAAATCCGACGACATAAAACTAGCACATAGACGTCATTAAACAGGGAATCAGCTAGGAGCACACTATTTCAATGTTAAGGCAAAATAAACCAGTCCCATGGGTTCACAGTCCCTGACATAATGGCAGGTGGGGAGGATGGTACCCAAGGACAACAAAAATAGACAGAAACACACTTCAGAACTGTGCTTTGCAAAGGGGACAGCACAAATGCAGTCCATCAAACTGACCACCCACAGAACACCTGGAGAAGGTGGACAGGTATACCACCAAGGCCCAGTGGCATAAAGCCCTAGGGAAAACTCACCGTTCTTGACAAAATGATGTATGAAGTGCAGTGATTCCCAAAGAAGGAGGAATCACGCTCAAAAACCTGAACAAACTTTTGACATTTATGTAAACAAGGTATGAAGAAAGAGTTCCATGGGATACACATAGAGCAGGGTTTAGGATGGATACTTCTTTGTTGCAGGGGGCTGCCTGTGCATTGTAGGATATTTGGCAGCACCCTGGCTCCTACCCACTGGATACCAGCAGCACCAAAAACATGAACCTAAAATGTCTCCAGACATTGCCAAATGTCAGGGACTATGGGGGCAGCAGAACCACTTCCTGTTGGGAACCCATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGAAACCTGACTGAGCAGCAGCTCAGTGTGACACACCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCA
GAACTTCTGAGCTCAAGCAATCCTCCTATTTCAGCCTTCCAAATAGTTGGCACTGTAGGCATGTGTCACCGTGCCCAGCCCTAGTTTGGTTTTTGTTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCTGTTCCCAGTCATTACACCTCCAAAATAAGTGATAGCTGCTTTCTAGAGAAAGTCCCACACCTAACATCCTTCTAAAAAAGGGAGTCTGAATCTGAGAGCTGAGAGGAGCCAAGAAATAAAGAGTAACTCTATTAGGAAAATTACTCTCTCCAGTTCTAAGACTCCTCTCTACATCCGGCCGAAAAAGACTCTTTACAAAGCACATGCCCAAGAAACCCAAAAAGAAGGCCCATGTGTGATGGAGAAGTTAGTGACAGGAAGTATCTGAACAGCTACTATTAAAATTCAATTCCCACCTCATTCACTAACATTACCTGAGGCTATTTATAAAGTGACTTAAAACTTCTGCCTCGACACCACTGGTGAGGCACTAATTAATGTAAGATCATCCCAATGCTGGCCTTGTTGCCAGGACTGAACTACCATCTGCAGAAATCCAACATTAAAAGGAAAAAAAAAAATGGTATGTACAGCACTCTATATCCATGGTCCTGAGAGGTATGTTAAACAGAATTGGTCCCCCATCCTTCTTTTTCTCTCTCCCTCTTTGAAAGGCAGCCTAGGGAAGAGAAAGGAAACACTTTACACCTACTCTCTACCAACTACCATTAGGTGCTTTCAGTGTGAGTTAACTTCAAAGCAACCCAATAGGAGAAACAAGCTCACATGGTGGCTGGAAAGTGCTTGTATAGCTGGACCACGGAGTAGTGGGACTGCCGCTCCGTCTTTTAGGAAATAAGTCATCAAGCCATTCTCTATGCCATGCGGGAGACATACTGTCTGGGTCTGAAACGCTTTCCCCACTAAGGTCTGGCTCCCGAGCCCTGGCATACCTTTGTGGTATCTGAGTGCTTGTTCTGCAGTTGTTCCAAATAGAGCTCGTTGACCTCCCCAAGAACCAACAGCTGCCTGTTCAAGAACTCCATCTGCTGCTGGACCGACTCACTGTTTGAGAGCTAACCAAAAAACATGAGCAAAGTGAAAAATCCGACGACATAAAACTAGCACATAGACGTCATTAAACAGGGAATCAGCTAGGAGCACACTATTTCAATGTTAAGGCAAAATAAACCAGTCCCATGGGTTCACAGTCCCTGACATAATGGCAGGTGGGGAGGATGGTACCCAAGGACAACAAAAATAGACAGAAACACACTTCAGAACTGTGCTTTGCAAAGGGGACAGCACAAATGCAGTCCATCAAACTGACCACCCACAGAACACCTGGAGAAGGTGGACAGGTATACCACCAAGGCCCAGTGGCATAAAGCCCTAGGGAAAACTCACCGTTCTTGACAAAATGATGTATGAAGTGCAGTGATTCCCAAAGAAGGAGGAATCACGCTCAAAAACCTGAACAAACTTTTGACATTTATGTAAACAAGGTATGAAGAAAGAGTTCCATGGGATACACATAGAGCAGGGTTTAGGATGGATACTTCTTTGTTGCAGGGGGCTGCCTGTGCATTGTAGGATATTTGGCAGCACCCTGGCTCCTACCCACTGGATACCAGCAGCACCAAAAACATGAACCTAAAATGTCTCCAGACATTGCCAAATGTCAGGGACTATGGGGGCAGCAGAACCACTTCCTGTTGGGAACCCATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGAAACCTGACTGAGCAGCAAGCAGCTCAGTGTGACACACCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCAT
pathogenic
152,727
Regarding the variant found on chromosome 9 at position 132901705 in gene TSC1 (TSC complex subunit 1): is it benign or pathogenic? If pathogenic, identify the disease(s).
benign
TTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCTGTTCCCAGTCATTACACCTCCAAAATAAGTGATAGCTGCTTTCTAGAGAAAGTCCCACACCTAACATCCTTCTAAAAAAGGGAGTCTGAATCTGAGAGCTGAGAGGAGCCAAGAAATAAAGAGTAACTCTATTAGGAAAATTACTCTCTCCAGTTCTAAGACTCCTCTCTACATCCGGCCGAAAAAGACTCTTTACAAAGCACATGCCCAAGAAACCCAAAAAGAAGGCCCATGTGTGATGGAGAAGTTAGTGACAGGAAGTATCTGAACAGCTACTATTAAAATTCAATTCCCACCTCATTCACTAACATTACCTGAGGCTATTTATAAAGTGACTTAAAACTTCTGCCTCGACACCACTGGTGAGGCACTAATTAATGTAAGATCATCCCAATGCTGGCCTTGTTGCCAGGACTGAACTACCATCTGCAGAAATCCAACATTAAAAGGAAAAAAAAAAATGGTATGTACAGCACTCTATATCCATGGTCCTGAGAGGTATGTTAAACAGAATTGGTCCCCCATCCTTCTTTTTCTCTCTCCCTCTTTGAAAGGCAGCCTAGGGAAGAGAAAGGAAACACTTTACACCTACTCTCTACCAACTACCATTAGGTGCTTTCAGTGTGAGTTAACTTCAAAGCAACCCAATAGGAGAAACAAGCTCACATGGTGGCTGGAAAGTGCTTGTATAGCTGGACCACGGAGTAGTGGGACTGCCGCTCCGTCTTTTAGGAAATAAGTCATCAAGCCATTCTCTATGCCATGCGGGAGACATACTGTCTGGGTCTGAAACGCTTTCCCCACTAAGGTCTGGCTCCCGAGCCCTGGCATACCTTTGTGGTATCTGAGTGCTTGTTCTGCAGTTGTTCCAAATAGAGCTCGTTGACCTCCCCAAGAACCAACAGCTGCCTGTTCAAGAACTCCATCTGCTGCTGGACCGACTCACTGTTTGAGAGCTAACCAAAAAACATGAGCAAAGTGAAAAATCCGACGACATAAAACTAGCACATAGACGTCATTAAACAGGGAATCAGCTAGGAGCACACTATTTCAATGTTAAGGCAAAATAAACCAGTCCCATGGGTTCACAGTCCCTGACATAATGGCAGGTGGGGAGGATGGTACCCAAGGACAACAAAAATAGACAGAAACACACTTCAGAACTGTGCTTTGCAAAGGGGACAGCACAAATGCAGTCCATCAAACTGACCACCCACAGAACACCTGGAGAAGGTGGACAGGTATACCACCAAGGCCCAGTGGCATAAAGCCCTAGGGAAAACTCACCGTTCTTGACAAAATGATGTATGAAGTGCAGTGATTCCCAAAGAAGGAGGAATCACGCTCAAAAACCTGAACAAACTTTTGACATTTATGTAAACAAGGTATGAAGAAAGAGTTCCATGGGATACACATAGAGCAGGGTTTAGGATGGATACTTCTTTGTTGCAGGGGGCTGCCTGTGCATTGTAGGATATTTGGCAGCACCCTGGCTCCTACCCACTGGATACCAGCAGCACCAAAAACATGAACCTAAAATGTCTCCAGACATTGCCAAATGTCAGGGACTATGGGGGCAGCAGAACCACTTCCTGTTGGGAACCCATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGAAACCTGACTGAGCAGCAGCTCAGTGTGACACACCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAG
TTGTCTACAATTGAAGGCATCCTGACTATCACAACTCAGCTGCATCACCCGTTTTATGAACTGGGAAACAGGGCCCCATGGAGAGGCAGCTACTCAAGGTCCCAAACAGCACAAGGACTCCTTGGAGGCCGCCCATCTAGGCTTCTCTCAGGAGATGGCCCAGGCACGTTTCAGCAGCTTTTTCAGGAGCTCTCTTGTGCCTCGGATCTGTTTCTCCCCCTTTCTGTTCCCAGTCATTACACCTCCAAAATAAGTGATAGCTGCTTTCTAGAGAAAGTCCCACACCTAACATCCTTCTAAAAAAGGGAGTCTGAATCTGAGAGCTGAGAGGAGCCAAGAAATAAAGAGTAACTCTATTAGGAAAATTACTCTCTCCAGTTCTAAGACTCCTCTCTACATCCGGCCGAAAAAGACTCTTTACAAAGCACATGCCCAAGAAACCCAAAAAGAAGGCCCATGTGTGATGGAGAAGTTAGTGACAGGAAGTATCTGAACAGCTACTATTAAAATTCAATTCCCACCTCATTCACTAACATTACCTGAGGCTATTTATAAAGTGACTTAAAACTTCTGCCTCGACACCACTGGTGAGGCACTAATTAATGTAAGATCATCCCAATGCTGGCCTTGTTGCCAGGACTGAACTACCATCTGCAGAAATCCAACATTAAAAGGAAAAAAAAAAATGGTATGTACAGCACTCTATATCCATGGTCCTGAGAGGTATGTTAAACAGAATTGGTCCCCCATCCTTCTTTTTCTCTCTCCCTCTTTGAAAGGCAGCCTAGGGAAGAGAAAGGAAACACTTTACACCTACTCTCTACCAACTACCATTAGGTGCTTTCAGTGTGAGTTAACTTCAAAGCAACCCAATAGGAGAAACAAGCTCACATGGTGGCTGGAAAGTGCTTGTATAGCTGGACCACGGAGTAGTGGGACTGCCGCTCCGTCTTTTAGGAAATAAGTCATCAAGCCATTCTCTATGCCATGCGGGAGACATACTGTCTGGGTCTGAAACGCTTTCCCCACTAAGGTCTGGCTCCCGAGCCCTGGCATACCTTTGTGGTATCTGAGTGCTTGTTCTGCAGTTGTTCCAAATAGAGCTCGTTGACCTCCCCAAGAACCAACAGCTGCCTGTTCAAGAACTCCATCTGCTGCTGGACCGACTCACTGTTTGAGAGCTAACCAAAAAACATGAGCAAAGTGAAAAATCCGACGACATAAAACTAGCACATAGACGTCATTAAACAGGGAATCAGCTAGGAGCACACTATTTCAATGTTAAGGCAAAATAAACCAGTCCCATGGGTTCACAGTCCCTGACATAATGGCAGGTGGGGAGGATGGTACCCAAGGACAACAAAAATAGACAGAAACACACTTCAGAACTGTGCTTTGCAAAGGGGACAGCACAAATGCAGTCCATCAAACTGACCACCCACAGAACACCTGGAGAAGGTGGACAGGTATACCACCAAGGCCCAGTGGCATAAAGCCCTAGGGAAAACTCACCGTTCTTGACAAAATGATGTATGAAGTGCAGTGATTCCCAAAGAAGGAGGAATCACGCTCAAAAACCTGAACAAACTTTTGACATTTATGTAAACAAGGTATGAAGAAAGAGTTCCATGGGATACACATAGAGCAGGGTTTAGGATGGATACTTCTTTGTTGCAGGGGGCTGCCTGTGCATTGTAGGATATTTGGCAGCACCCTGGCTCCTACCCACTGGATACCAGCAGCACCAAAAACATGAACCTAAAATGTCTCCAGACATTGCCAAATGTCAGGGACTATGGGGGCAGCAGAACCACTTCCTGTTGGGAACCCATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGAAACCTGACTGAGCAGCAGCTCAGTGTGACACACCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGNN
benign
152,745
Benign or pathogenic: chromosome 9, position 132903713, gene TSC1 (TSC complex subunit 1) variant? Disease(s) if pathogenic?
pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
TCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGA
TCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGAN
pathogenic
152,801
The mutation impacting TSC1 (TSC complex subunit 1) on chromosome 9 at position 132903746: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Isolated_focal_cortical_dysplasia_type_II', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
GTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAG
GTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGNN
pathogenic
152,807
A mutation at chromosome position 132903752 on chromosome 9 in gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
CCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACT
CCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCC
pathogenic
152,810
Variant chromosome 9, position 132903776, gene TSC1 (TSC complex subunit 1): benign or pathogenic? Disease(s)?
pathogenic; ['Isolated_focal_cortical_dysplasia_type_II', 'Lymphangiomyomatosis', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
TGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAA
TGAGGAACACCAACAGGCCAGATCACAGGCCTACCTAGCCACCAGCCCACAGAGGACTGGGAATGCCTTAGCTCAACGGCTCTACTTTCTTGGGCCCTCAGAATTTGATGTCTTAGTTTTAAAAAGTAAGTTATGGTTGATTTCTGAGTTCCTTACTGTTTAACAAAAGAAAAAAAGAGACCTTAGATCCTCAGTTCCCAAACTGTGCACCAAAGAGCCCTGAGGCTACACAGCAAACTCACAGGGATGCTGCAGAAAGATTCTGAATTTTCGAGGGAGACGCAGCGCCATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATCTGTGAACAGCTACTAAGTTCTTAGGACATTCGTACTCACTAAGTTATTCAGATCTACTTAATGAGCAGAACTGTTAACTGTTTCCTTTTGGCTGCAGAAAAAAAAATGACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAATGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAN
pathogenic
152,814
Variant at chromosome position 132904428, chromosome 9, gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['TSC1-related_disorder', 'Tuberous_sclerosis_syndrome']
ACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGG
ACTGAGACACTAAGGGAGCTACTATATGAACCAACAAAGTTGGGGAACCTCTGTCCTAAGTAAGATTCACCTGCCATGAAGAATTTCTGCCATGATTTCAGAGAGAAAAGCATTCAGCTTAGTAAAGCTGAACAAGTCAAGGACACCCAGGGAAACTGACTGCCTCCCTCCCCACTGCTCTCCGGCATTCTCGCAGTTGGCTTTGCCTGGTGCTGCAGTTTATACCTGTAATTCCTGGCTCTGGTTGTAGAATTCCTCTCGGTCATGCTGCAGCTGTCTGATCTGGCTGTGGAGCTTGGTTACCATAGTGTCACGCTGCTCCTGGAGCTGATTGTATCTAGCTTGTTCTTTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGGATCTTAAGTTGCTTAAATAAATCTTCTCAGGGATCAGTTTGCTTCCAATACTTTCAAAAGTCTGACTACCAACACTGGAATAAAATCTCTCAAACATGGTACTAAGTTCACTGAAACGATGAGCATTTACTGAATGCTTGCAGTGTGCTGGGCGCTCAGCAAGGGCTTACCGACATAATTTCTTTTAACCATCACAACTTAAAGAGCAGGTGCTGCTATTGTTATTTCCATTTTATAGCATGGCTAACAGAGGCTTCAAGAGGCCACGTTACTTTTCTAAGGTAACACTGGTAGAGCCAAGATTCAAACTCCAGGCCTGACTGGCTTCACACCCGCTGTACAATACACGCTTCAGTTTTGTGCCATGAAATAGCTTTACAAGAGTTGGTTTTACATTTGGAGAAATAAAATCATCTTCTGACCCTTCATCATCATGGCCAGTTACATGCAAACATACACACACAAAATCACTTGTCCCCACGGTTTCTGAGAATTATGAGGGAATTCCGAGGTGTCACCATTCATGTCTTAATCTCAAGCGACCTGCCCAAAGGAGTGGGAAGGACTGGGAACTCTGACCTCCTCGGCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGN
pathogenic
152,826
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 9, position 132905618, gene TSC1 (TSC complex subunit 1). What disease(s) is it linked to if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
GCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTAT
GCTGCTGTGCTTTATAAGCTATCATGCTGACCCAAAACAAAACAAAAAGCAAGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTA
pathogenic
152,846
For chromosome 9, position 132905669, gene TSC1 (TSC complex subunit 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Malignant_tumor_of_urinary_bladder', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
AGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCC
AGCTCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCNN
pathogenic
152,855
Regarding the variant at chromosome 9 and position 132905672, affecting gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'TSC1-related_disorder', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
TCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAA
TCCACCTGTCCCCTCCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAANN
pathogenic
152,856
Does the chromosome 9 mutation at position 132905686 within gene TSC1 (TSC complex subunit 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
CCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTG
CCCCAGTCCTCACCATGGCAGCATTATGTTCCTCCAGAGCTGCTGCTTTGATCACCTTGCGGAGGAGCCGCCTGTTCCGGAGGGCATGCTGCTGCCTCTTAAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTCGGAGGGTGCGGATCTCATCTGAAGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGNNNN
pathogenic
152,860
The mutation in gene TSC1 (TSC complex subunit 1) at chromosome 9, position 132905855—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Lymphangiomyomatosis', 'Tuberous_sclerosis_1']
AGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAAC
AGGAGGAGAGCCTGATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCC
pathogenic
152,895
Evaluate this variant at chromosome 9, position 132905868, gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
GATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCC
GATTGTAAAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCNN
pathogenic
152,899
Regarding the variant at chromosome 9 and position 132905875, affecting gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
AAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTA
AAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGG
pathogenic
152,901
Chromosome 9, position 132905875, gene TSC1 (TSC complex subunit 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
AAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTA
AAGCAGAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTANNNNNNNNNNNNNNNNNNNNNNN
pathogenic
152,902
Regarding the variant found on chromosome 9 at position 132905880 in gene TSC1 (TSC complex subunit 1): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
GAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAA
GAGGGAGGGTGGCAGAAATGCCTTTTACAGATGGTTCAATCAAGCCCCCTTCCCATGTGTTGTTAGCTTAACAAACACAATTCTTTAAAAACAAATCACCACTCTCTTTGCAAATGACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAN
pathogenic
152,906
Chromosome 9, position 132905996, gene TSC1 (TSC complex subunit 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
ACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGT
ACCACTTGACTCCCAGCAACAGCAGGGGGGAAAGTATGGACTATGTGTCTCCCCCGTGAAGGAATGCAAAAGGTCATATCATGTGGGATGACTCTTTGAGAGCCTGCTTTCCTTTCCCCACAAATCTAGATCACGCATTTCAGATGCCCTGTTTCTCAAGACACTTCCTTCGCTGTGTGTTCTCCCCCAGGAAGATGCTTCACTCTGGTCTTCTCCAGGGAAGCCTGGCAGGAAGTCTGTATTTTGCACTTATACTCTCAAGCGCATAGTACTTGCCACTTTTCAAAAATAAGAAATGCTGACTTGGCAACACTTGAGATCCTTTAGCCAAGCAGATAGCCTGGCCGGAGCAATAGCCAAGGGGAGATCTGTTTCCCAGAGGGCACCTCCTTCAAGGACAGAAAGGGCAACAAGCAAGCAGGAACCATGTGGGCTGGATTTGGAGCTAAAGTAACAACTTTACCTCCAAAGTGGGTCCAGTCGACAGACTTGCTGGGTAAAGGCAACCTAGGAAGAAAGTTTTTGAGTAACAAAGTTACCGATCTTACCAAGAAAAAAACGTATCTGGACTTTTATTTGCAGCAAAGTTAGATCACTTCCTTGTGGTCAAAATCTGCAATGGCATAAGAATGTTTCAAACTCCAGGTCCACAGAGAGTTAGAGGAGAAGCCTACACTGGACACAATGGGAGGCGGCCCTCGCCCCACTGCCTAGGACCTGTGTTGTTAGCTTAACACAGTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTNN
pathogenic
152,926
Is the genetic change at chromosome 9, position 132906734, within gene TSC1 (TSC complex subunit 1) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Isolated_focal_cortical_dysplasia_type_II', 'Lymphangiomyomatosis', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
GTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAAT
GTCCTTTAAAAAACAAATCCAGAGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATNNNN
pathogenic
152,957
Considering the genetic mutation at chromosome 9, position 132906756, impacting TSC1 (TSC complex subunit 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
AGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCA
AGCGGAGAGGGTTGCAGGCTGAGCTGCACTGCATACACCGTGGCCTCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTACTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAN
pathogenic
152,959
The genetic variant at chromosome 9, position 132906801, affecting gene TSC1 (TSC complex subunit 1): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Tuberous_sclerosis_1']
TCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTG
TCCGTTTCTGGGGCCAGCTCTCCAGAGAAACTGAGTAGTCAAACACACTGAGAGCCGTTTTCAACCCTGTCTGTTGAAATATACAGGGAGTACACTCTGTTGTAAAGCTATGTCACTCCGATTTAAGGAAAAAGTAGGTAATTTACCTAAGCCTATCATACCAAATCTCGTTTAAAAAGAGGGAGCTTAAATACTATAATCCCTGTCAAATTCCACCATAGCATAGTATATAAGAAGAAAAATAAAAATATTCCCCAAGCACCTGTAAAGTAGCTAATAAAAGACGGATGGGAAACCGTTTCTCAGCTAGAGTCCTTTCTATGAAAACTTGGGTGCCTCAGGGGGTCTGGAGGGGATGTCAGGCCATCTGAACTTGCATAAAATGCTGATGATTTTATCTCCACCTAATGAACTATGATACCAAAATAGAAAATAATAATAATAATCTGTAGCTAGAGAGGGAAACACTGTGACAAATATTCTTATATTCTTTGAAATACCATAACCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTT
pathogenic
152,962
The mutation in gene TSC1 (TSC complex subunit 1) at chromosome 9, position 132907306—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Isolated_focal_cortical_dysplasia_type_II', 'Lymphangiomyomatosis', 'Tuberous_sclerosis_1']
CCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAAC
CCTCATTTTCAGCCTACAGCTTGCAGAGGGCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACNN
pathogenic
152,975
Mutation found at chromosome 9 position 132907335, gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Tuberous_sclerosis_1']
GCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATC
GCACATATGAAAGCATTTGAGTGTCCTCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCNNNNNNNNNNNNNN
pathogenic
152,980
Variant in gene TSC1 (TSC complex subunit 1), located at chromosome 9 position 132907361: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
TCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAG
TCATAGAACAGAGGCATAAAATGGCCTATATAAAAAGACTCATTTTGAAATGGACTGCTAAGGAATCATCCCAATTTAGGTGCACAGAGGTCACACATGGTCACATATATGAAGATGCAACAGCCTAGAAGGACATCTGACAAACAGCAGAGAACCAGCTGCCTCAAGGTGGGAGTGTGAAGAATGATTCTTGTTCCTCTCTTACACTTTCTGTACTTCACAATAAAATGGACCATTTAACACAGAAGAGAGTGCCCCAGTCCCTTACTTGTTCAGCTCCTTGCTGTGCGCGTCTGCTCCCTGCTGTATCAGTCTGTCCAGCACTTCCATTGGGGAGGTAGAGGGCACACCATCTTCCTCTGTGTTTCCTTTTGCTTTCTTTAACAGCTCCTCAGTCTTCCTGATGACAAAATGATGGGCTGTCTTTGGCAATGCCACCTCAAAAAGATGATCATACGGGGGAGGCTGCCCGCTTCCAAAGCCCACTCTCGTCGGAGGTGGAATTTTACAAGGACTGGGAGTGAAGATACTGGTCTCCAAAGAAGTCTGGCATTCCCTGTCTCCCGCAGGGCTTTCATCAGCACTGCCGCAGGGCAGGTCTATGGGAGTAAAGGCTTGCTTTGGTGTGTCAGGCCCAAGCTTGTCCAGGGAGGAGTGTAAAGGCTCAGGGTTCACGCTGGCGCCCTGAGAACTGGAGGCTGCCGAGTGGGTCTTCCGCTGAGAACCTGGGAGACTGTCTCGGTAAAAGGGAGAGTCAAAGCCTCCTCGAGGAACCACAGGCTCTGCCTCTGCTGTGGTGATCTCAGAAAGTTCTCTAGATATTGCAGCTGAGAGGAAGAGAGGAAACAAAAGAAATGGCAGTCGGTATTCCACCTGGGAAAGACTAGGCAGTTTGGGTGGCATGCTGCCACATGCCAGTGTCACTCAGAGAGAGGAGAAAAAGTGGCATCCGGCTGGACACAGTGGCTCACGCCTGTAATGCCAGAACTTTGGGAGGCTGAGGAGGGAGGATCACTTGAGCCCAGGAGTTAGAGACCAGCCTGGACAACATAGGGAGATCCCATCTCTACAAAAAATACAATAAAAATCAGCTGAGCATCGTGGTGTATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGCGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTACCACTGCACTCCAGCCAGGGTGACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGTGGCATCACTTTACCTGGCATAGGTCCCAGACTAAACCACCCATCTTGTTACCTCAAGAGAAGAAAAATCCAGCAAGCCTGTGAGCAATGGCACAAAATCCCAGATTTATAGCAGAGCGAGGGTCAGGTTTTATCAACTCATAGCAATCCCACATACATTACCTTCTTCTTTATCTTTTTCAATACTATCTTCTTCAGAGGCCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGACAGAACCTTTGCTGCCAGGTGGCTCTTCTGAAGAGAAACAAAGACAACTGAAGTCAAAGAAATACAGTGTAATCCCTGTAAGTGTAAAACTGCTTACACTGTATAGAATATGTCTGTAATAACTCTTCATGCTGAACAGAGAAGGCTGGACATGGCTCTGTCCTGGGGATACTACAAAAGACTGAAATATTAAAAATAATATAACTAAAAGTACCAAAAATAATCCCATAGCAAATAAAATTCTCAGTTCTTAATGTCTCTGAAAAGAGATATAGTCAAGTCAGAATACAGGTACTTCACTGCAATAGCTTAAAAACTGTTTTTGATATTATTAGGTTGGTGTTTAGAATTCACTACTCGTTTCATTATGTTTAGGCCTCAGTATTTTGGATATCCCAGAATTTCCTTGTTTCCATTTAACTTTCTTTTCTTAAACACATATAACCCAATTAGAAGAGGCAAGCAAGGCCTGTAGTAACGCAGAAATTTTACCTGATCCTCTGTCATTCAGAAGATGGTGTTGTCTGTGTAGACATGGTCTTGCAGAATCCATTCTCTTCCTGAAAAGATAAGTATCATTTATATCACAAGACGAAAAATGTTGCACATGTTCTCGAGCATATTGTAAAGTAGTTTAAAGGTCAGCCGAGTGCAGTGATTCTCAAATTGTTGGGATGTTTTCTTTTCTTTTTTTTTGAGGTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGAAATGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTACAGACGGGGTTTCTCCACATTGGTCAGGCTGGTCACGAACTCCCAACCTCAGATGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGACCACGCCCAGCAGCTTTCTTTATAGTCTTAAAAAATGGCTGCAGACTGGGCGTGGTGGCCCACGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCCAGTGGATCCCTTGAGCTCAGCAGTTTGAGACTAGCCTGGGGAACATGGCAAAACCCCATCTCTACAAAAAATTTAAAAAGTAGCCGGGCATGGTGACTGGTGCTTGTAGTCCCAACTACCCAGGAGGCTGAGGTGGGAGGACCACCTGAGCCAGGGAGGTCAAGGCTGCAGAGAGCTGCAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCACACACACAAAATAATAATAATAATGAGAAAGTTGGAGAATCCCAAGAGCTTTTACGAGGCATAATTATTATATTAGAAAACCAGGAAATTTTTAAAATATTAATTCCCTTAAAAATAGCAAGCCCATTACAAGTTAATGTAAATTACATATTCTTATTAAAAAACTATATTTCCCGAAATAAAAATAAATTTAGTGAGAAGAATGGAACATTTTTGCCATCTCTTTAATATATGGCTTCATGAAAGACAGCTGGATTCTCATATCTACCTCTACATTCAGTCTGTTGCAATATGTTATTTTGACTGAAGTGTATAAAGAAAATCTGGGGCCCCACAGATATGTAATTGCAAAAGTAAACATATGTGTTGTTGTTTTTCTTTTTGAGACAGGGTCTGGCTCTGTCACCTAGGCTGGAATGCAGTGGCGTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGNN
pathogenic
152,984
Regarding the variant at chromosome 9 and position 132910562, affecting gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, what are the associated illness(es)?
benign
GTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAA
GTGATCATGGCTCACTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACAT
benign
152,994
The mutation in gene TSC1 (TSC complex subunit 1) at chromosome 9, position 132910576—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
CTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCA
CTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTC
pathogenic
152,995
Regarding the variant found on chromosome 9 at position 132910576 in gene TSC1 (TSC complex subunit 1): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
CTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCA
CTGCAATCTCTGCCTCCTGGGCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCAN
pathogenic
152,996
Variant in gene TSC1 (TSC complex subunit 1), located at chromosome 9 position 132910596: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Tuberous_sclerosis_1']
GCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTC
GCTCAAGCCGTTCTCCATCAGCTCCCCGATTAGCTGGGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCN
pathogenic
153,002
Assess the variant on chromosome 9, position 132910632, impacting TSC1 (TSC complex subunit 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Tuberous_sclerosis_1']
GGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAA
GGACTACAGATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAANN
pathogenic
153,013
A genetic variant at chromosome 9, position 132910641, affecting gene TSC1 (TSC complex subunit 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
pathogenic; ['Tuberous_sclerosis_1']
ATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACA
ATGCACATCACCACACCTGGCTTTTTTTTTTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAN
pathogenic
153,017
Mutation at chromosome 9, position 132910670, within TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Tuberous_sclerosis_1']
TTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTA
TTTTTTTAGTTGAGATGGGGTTTTGCATGTTGCCCAGGCTGGTCTTGAACGCCTGGGCTCAAGCAATCTACCTCCCTTGGACTCCCAGAGTGCTGGATACAGAAGCAAGCCACCACGCCCAGCCGCAAAAAGTAAACGTATGTTGACAGACTTTTCAAATAATCATCTTTGTTATTACACCAAAATTTGATAAGTGTTAGTTTCTTAAAGTTACAAAGTGAAATTTGAAACCACATCAATGAGCTTTTCCTGTGTTAAAACCCACTAGTCTACCTTGCACTTTTTTTTTTTTTTTTTGTGACAGTCTTGCCCTGTTGCCCAGGCTGGGGCTGGAATGCAGTGGTGTGATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTANN
pathogenic
153,021
A genetic alteration at chromosome 9, position 132911017, in gene TSC1 (TSC complex subunit 1)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Tuberous_sclerosis_1']
ATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCA
ATCTCGACTTACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCATACCCGGCTAATGTCTATATTTAGTAGAGATGGTGTTTCAACATGTAGGCCAGGCTGGTCTTCAACTGCTGACCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGCTGGGTTACAGGTGTAAGCCACTGCGCCCAGCCTGCTTTGTACTTTGAATGTACTTTTTACCTATGCATGATTCTGCAACGTATCATACATTGGACACTCTGAAAATATTGGCTCCTCAAGCTATTCAAATATTCCAAATGTTGAAACACTTCATTATACAATATCAAAAACTCAAATTACTAACTAAGCTTCCACAGACTTTTCGGTCTCATCATAAAAGTCCTGGGGCAGCTATCAAGTTCATGGTAGTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCC
pathogenic
153,027
Variant chromosome 9, position 132911466, gene TSC1 (TSC complex subunit 1): benign or pathogenic? Disease(s)?
pathogenic; ['Tuberous_sclerosis_1']
GTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAA
GTATATACACGTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACA
pathogenic
153,040
The mutation in gene TSC1 (TSC complex subunit 1) at chromosome 9, position 132911476—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Tuberous_sclerosis_1']
GTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGT
GTTTTTTAATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTG
pathogenic
153,044
Chromosome 9, position 132911483, gene TSC1 (TSC complex subunit 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Tuberous_sclerosis_1']
AATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAAC
AATATCTTGATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACN
pathogenic
153,049
Clinical classification of chromosome 9, position 132911491, gene TSC1 (TSC complex subunit 1): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
GATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGT
GATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTNN
pathogenic
153,052
Clinical classification of chromosome 9, position 132911492, gene TSC1 (TSC complex subunit 1): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Cortical_dysplasia', 'Hereditary_cancer-predisposing_syndrome', 'Renal_cortical_cysts', 'Renal_insufficiency', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
ATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTA
ATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGT
pathogenic
153,053
Clinically, how would you classify the variant at chromosome 9, position 132911492, gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
ATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTA
ATTTCCACCTGAGAGTTGACTTTTATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTANN
pathogenic
153,054
Located at chromosome 9 position 132911516, the variant affecting gene TSC1 (TSC complex subunit 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
benign
ATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTATGTCTTGACGTACATACAGAAGTG
ATTGTTGGCAACAAATACTGTCAGTTGTTTATCTTGAAGTGACAGACTCAGCTCATCATTTGAGAAGCTGCCTGCCAAACACCCAAGTCTGAATAACCAGTTTGTAAGACAGCAGTTCTTTCAAATAAAACTGGCATTCCATGAAAAAAGGCAGCTACTTCACCTCTCAATTCAAATAACTGCATGAGGGCCAGAGGTCACCATCATACCCTGGTATGCAGTACATGTGCCTTATGCATATTTTCTATTTTGCCACGAAGAATATTACACATACATGTTCTCAAGGGCTAAGATTTAATAAAATTAATAATGGTTACTGCTTAATACAGAACACTCAACTTTTAAAATTTTTTAGTTTTTATTGTTTTTAATGGAGAGAAGATGTCAGGGAAGAATGCAAGGCCTCTTGGGATAGGACACTTCAATGCCTGCCTTGATTCAGGCTAAGTTGCCACCATTTCACCCCCCGTCGTATTTGTGCCATCATTGCAGATGCCAATGCAGTGGGAAGGGCAAATGACAGCTTAGTGTTACTATGAAGGTGGGTTTGGTCAGGTGTGGTGGCTCAAACCTGTAATCCCAGGATTTTGGGAGGCCCAGGTAGGAGGATCGTTTGAGTCCAGGAGTTTAAGACTAGCCTGGGCAACATAGTGAGACCTCATCTCCACCAAAAAAAAAAAAAACTTAGCCAGGCATCATGGCACATGCCTGTAGTCCCAGCTACTAGCGAGGCTGATGCAGGAGGATTGCATGAGTCTGGGAGGTCAAGGCTGCAGTGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGAGTATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTATGTCTTGACGTACATACAGAAGTG
benign
153,061
Determine if the mutation at chromosome 9, position 132912292 in gene TSC1 (TSC complex subunit 1) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
TGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTATGTCTTGACGTACATACAGAAGTGAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACGGATCACAAGGTCGAGAGATTGAGACCATCCTGGCTAACATGGTGAACCCCCGTTTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAATTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCTGGGCGATAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGTGAGCCAATGTGCCAGCCTCCCATGGGTTTTTTGTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCAATCTCGACTCACTGCAACCTCCACCTTCTGGATTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTCCAGGTGCCCGCCACCATCCCCAGCCAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTACCCGGCCAAGAATATTTTTAAAACTGTCTAAAGATTCCTGTTATGTGATCCATGGTTTCACTTCTAAGAATTTATCCTATAGAAACAGACATACAACAATGTTCAGCACAGCACAGCTTGTAATGGAAAGAAGAAAGGAAATAACCC
TGAGCCATGATCGTGCCACTGCACTCCACCCTGGGCGACAGAGCAAGACCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTATGTCTTGACGTACATACAGAAGTGAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACGGATCACAAGGTCGAGAGATTGAGACCATCCTGGCTAACATGGTGAACCCCCGTTTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAATTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCTGGGCGATAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGTGAGCCAATGTGCCAGCCTCCCATGGGTTTTTTGTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCAATCTCGACTCACTGCAACCTCCACCTTCTGGATTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTCCAGGTGCCCGCCACCATCCCCAGCCAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTACCCGGCCAAGAATATTTTTAAAACTGTCTAAAGATTCCTGTTATGTGATCCATGGTTTCACTTCTAAGAATTTATCCTATAGAAACAGACATACAACAATGTTCAGCACAGCACAGCTTGTAATGGAAAGAAGAAAGGAAATAACCCNN
pathogenic
153,079
Evaluate if the mutation on chromosome 9 at position 132912348 in TSC1 (TSC complex subunit 1) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Isolated_focal_cortical_dysplasia_type_II', 'Lymphangiomyomatosis', 'Tuberous_sclerosis_1']
CCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTATGTCTTGACGTACATACAGAAGTGAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACGGATCACAAGGTCGAGAGATTGAGACCATCCTGGCTAACATGGTGAACCCCCGTTTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAATTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCTGGGCGATAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGTGAGCCAATGTGCCAGCCTCCCATGGGTTTTTTGTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCAATCTCGACTCACTGCAACCTCCACCTTCTGGATTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTCCAGGTGCCCGCCACCATCCCCAGCCAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTACCCGGCCAAGAATATTTTTAAAACTGTCTAAAGATTCCTGTTATGTGATCCATGGTTTCACTTCTAAGAATTTATCCTATAGAAACAGACATACAACAATGTTCAGCACAGCACAGCTTGTAATGGAAAGAAGAAAGGAAATAACCCAAAGTTCAACCAAAGGGATATATTTTATAGAATAACTATTATTACACCCCCTGAAA
CCAAAAAAAAAAAAAAAAAAAAAATCAAGAGAGTAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTATGTCTTGACGTACATACAGAAGTGAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACGGATCACAAGGTCGAGAGATTGAGACCATCCTGGCTAACATGGTGAACCCCCGTTTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAATTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCTGGGCGATAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGTGAGCCAATGTGCCAGCCTCCCATGGGTTTTTTGTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCAATCTCGACTCACTGCAACCTCCACCTTCTGGATTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTCCAGGTGCCCGCCACCATCCCCAGCCAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTACCCGGCCAAGAATATTTTTAAAACTGTCTAAAGATTCCTGTTATGTGATCCATGGTTTCACTTCTAAGAATTTATCCTATAGAAACAGACATACAACAATGTTCAGCACAGCACAGCTTGTAATGGAAAGAAGAAAGGAAATAACCCAAAGTTCAACCAAAGGGATATATTTTATAGAATAACTATTATTACACCCCCTGAAAN
pathogenic
153,093
A mutation at chromosome position 132912381 on chromosome 9 in gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
TAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTATGTCTTGACGTACATACAGAAGTGAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACGGATCACAAGGTCGAGAGATTGAGACCATCCTGGCTAACATGGTGAACCCCCGTTTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAATTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCTGGGCGATAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGTGAGCCAATGTGCCAGCCTCCCATGGGTTTTTTGTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCAATCTCGACTCACTGCAACCTCCACCTTCTGGATTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTCCAGGTGCCCGCCACCATCCCCAGCCAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTACCCGGCCAAGAATATTTTTAAAACTGTCTAAAGATTCCTGTTATGTGATCCATGGTTTCACTTCTAAGAATTTATCCTATAGAAACAGACATACAACAATGTTCAGCACAGCACAGCTTGTAATGGAAAGAAGAAAGGAAATAACCCAAAGTTCAACCAAAGGGATATATTTTATAGAATAACTATTATTACACCCCCTGAAAAAGCATGCTTTTAGCAGATCGATGGTTGCCAGA
TAGGTTTGACCTGCTGGGTTCCCCACAAGAGTTCTGCCAAAGCAGAGTTTTGGAACCACCCAGGGGTCGGCAGATCACACCTTGAGAGCAGCTTGTTAGTCCATTTTCAATTATTCTGATTCAAACCCATTGCATTTTAGGTCAGAATTCTATCTGGCATAATTAGGCTTCTCAAAGTGAGGCTTGCAAGTGAGTCACTGTGCCTGGGCAGAGGGATAGCAGACGAGCTGGATCGCACCTTCCTGGGGGGTGTGACTGTGGCCTGGGGGAGTGAAATGTGCACGTAGTCATCCGAATGACAGAGTGGGGCTGGAGGAGGAGAGGTTGCTGGGGTTCCCAGAGGAGTTCCTTTTCCACCTGCTTAGAGACAAGGGCAGAACATATATGAACACTGAGCCCAACTATTAGAAAAACTGCCGATTTTTTTTCAGCCTATAACTATTACTATAAATAAAGCTGCTAGAGTTAACTTTCTGGGGATCTAGATCAGTCTCTCTCTTTTTTGTTTTTAGGTTCACTTTACACATTCTGAAAGCCCCAGGGATTTGCAATAAGTGTCAAAAACAAGTTTACAACAGCAAGTGGTCCCTTAGATCTAAAAGAGAGCTCCTCCTGCCATTAAAGGCAGGCCAAAACCAACTAATCAAATCCAACCTAAGACATACATACCAGTTGTACCAAAGACTTTACTGTAAGGGTGTGACAGATCAGGTGGGACATTTCCAGGAGAAGTTGGAGGAGTGGTCATACCACAAACCATAGATGGGCTCCAAAGAGTAGCCTGGGAAGTTAATAAAGTACATCAGCAGTGGCAAAGGAATGCTAAGTCATCCACGAGGTTTATATCCATGGCCAGTGTTCAGCTTAAATTTAGCTTTTTCATCTAGAAAAAGGCATCTTATTAAAAGCGTATCAAGAAACAAGTTGCATTTTGTAAATCAAGACTTCAAGATGAATCTAAGAGGCAACAGTAACTTTCTTTGCTAATATCATGGATCCTTAAAAGTGACTCCTGAAATGAGCAGTGTGAAATTTTCCCAACCACATACTAAATCTGACCCAAAGGGTCAGCTTCACCAGAAAGCAGAGGAGAGAGCAGGCACACTAGTTGACACCATACTTGTGGTGGTTCAGTTATCAGCCGTGTCGATGGGGAACTCAGAGTCTGAGGTAGCTGCCCTGGCATATTTAACAACATCAGCCGAGACGTGGAGTAAGGGGTAGAAGTAGCACACCCTAAAATGGAAGAGAAGAACACAGGGGGTTAGTGTGTGGTTTTAGGTTATTCTGGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGTCCTCTAGACCATTTGATAATATTCAATTCTCTGTACCTAAAAAATCTGAGGGACTTAACTGACATCCTTGGGGACAAAGTAACACTTCAGAGTTTCTCTAAATGCTCCTTTGAAATAAAGTTCAATAAGGTTTGATGTCTCATTAAGCCTCAAGATAACTTAAAAAAGCACAATACAGATGACAACTTCAGTGGCTGCAACCCACAAATAAAGCCTAGATTTTTATATGAATCCAATTCTAAATTGTTCCGACTCATTCAAACTGTGTCAGTGCTACAGACACAAGAGCCTCACTCTAAATGTCTGAAAATCAGAAAGATTCCCTTATGAGGTAGAGTCTGGAAGTCAAATACTTAAACCCATTTTCTTTCTTAAGTGTTGGAGACACGTCACCAACTCTGTTGGCATACAATCAGGTAGCAGACCAAGGACATCTAAATTAAACTTGAAGGAGAAATTAATTAGAAGAAAATGGAGGGACATGCAAATTTAAGATATTTTGGGAAAAATCCCTAGGAACTGAACTAAGTCTTACTCCAGAAAAGAAAATCAACAAAGACAAATAATGTTTTCCAGAGACAAAGTTGCAAAACAGATAAGTACCAAAGACACTTTTTACCATAGCTATTCTGTGTGTCAGCATAAGGGCTGGTGGTGACATCGGCTGAACGATGAGGAAAGCGGGCTGAGATTTGGTGAGACACAGAATAGCCATCTTCATGAGGCTTCTGTGGGATCCAGAGAGATTTTGGCACACTCGATCACAACATCATGAGTTTCTAATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTGTAATCAACTGAATTAAATACTTCAGAGTGTCAACTCAGTGCCAGCCACGGAACTCTGATAGCAAAGAACAAGCGGGACCATGCCAGCCCAAGTCTGAAACAATTCTAGTACATAAAGAAATAGCCATTCATTTTACAATCCTATACCTTCCCTGTTTAAAATGGTTATATCAAGTTTACAAGCTAATCTGAAACAAATATTTCCTCAACAAAAGACTAGGTGTAGCCTCAAAATGGAAAAATGAAACATAAGCTATGCAGCAGAGCAGCAGGCAGGGAAAAATGTCCTTTGGAACAAAGGTCATCAAAAAATAGGGAGACCTGGAGACTGCCAAGCAGCTGAGGCTGACTTAAGGTCTCCTATCAAGGCCTCAGGTGTCAAATCCATCCCTGGACCAGAAACAGAGTATAAAAAGACAAACTAAAGAAAGTCCATGAGAATTTTTTTCTTTTTTTTTTTTTCTTGAGATGGGGTCTCACTCTATCACCCAGGCTGGAGGACAGTGGCATGATCGTGGCTCACTGCTACCTCCAACTCCTAGGCTCAGGGATCCTCCTGCCACAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCGTGCCTGGCTAATATTCTTACAGAAATGGGGTCTCACTTTGTTGCTCATGCTGGTCTCGAACTTACTGGCCTCAAATGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCATGACCATGCCCAGCTGAAGGCATGATTTTTTAAATCAACGTGTTAGTATGGCATAATTTGCTTACAATAAAATTAGTCAATCTTGCTAAGTTTTGACAAAAGTCCCGATCATAATAAAGAACATGTCCATCACCCCAAAAGTTCCTTTGTGCCCTTTGTGGTGAGTCTCTTCCCCCACTTCTTGCAACTATCGATCTGCTAAAAGCATGCTTTTTCAGGGGGTGTAATAATAGTTATTCTATAGAATATAACCCTTTGGTTGAACTTTGGGTTATTTCTTCTTTCCATTACAAGCTGTGCTGTGCTGAACACTGTTGTATGTCTTGACGTACATACAGAAGTGAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGACGGATCACAAGGTCGAGAGATTGAGACCATCCTGGCTAACATGGTGAACCCCCGTTTCTACTAAAAATACAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAATTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCCTGGGCGATAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGTGAGCCAATGTGCCAGCCTCCCATGGGTTTTTTGTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCAATCTCGACTCACTGCAACCTCCACCTTCTGGATTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTCCAGGTGCCCGCCACCATCCCCAGCCAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTACCCGGCCAAGAATATTTTTAAAACTGTCTAAAGATTCCTGTTATGTGATCCATGGTTTCACTTCTAAGAATTTATCCTATAGAAACAGACATACAACAATGTTCAGCACAGCACAGCTTGTAATGGAAAGAAGAAAGGAAATAACCCAAAGTTCAACCAAAGGGATATATTTTATAGAATAACTATTATTACACCCCCTGAAAAAGCATGCTTTTAGCAGATCGATGGTTGCCAGANN
pathogenic
153,097
Gene mutation in TSC1 (TSC complex subunit 1) at chromosome 9, position 132921368—is it benign or pathogenic? If pathogenic, specify the disease(s).
pathogenic; ['Tuberous_sclerosis_1']
AGCACAAAACAACTAAAGAAAATATCATAGAACTTGAAGAGCTTCCAGCTTGAACAATGAGAATAGATTCATACCAACATACATCACTGGAAATTTCAGAATATTATGACAACAAAGAGAACTCCCTACCAGCTCCCCTAGAGAAAAACACAGCAAATACAGATGATCAGAAATTCTAAGAGCAACATTGGAAGCAGGGTGGCAATGGAATAATGCCTTCAAATTACTGAATGCCTTCAAATTACCGACTCTCAACCTGTAAGTCTACACCAGCCAAAACACTGCATCCTTCCTCAAAAAGCTCCTAGAGGCTATGTCCTATTAAACAAGAGTAAACCAAGAAAGAAGACAAGATACAGGAAATGGGAGATCCTGCACAGGAGAGAGGCGAAGGAAAGCCCCAGGAGACTAGGATGACAGCTGGGTACTAGGCACAGACGAGAACCAGTTCGGATCAGAACAGCAGCTGCCAAGAGACAGGCATGTCTCAAAGTTCCTGCTGTCCTGCACTATCTTTTTAATGAGGGACAGAGCCAGGTGACCCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTC
AGCACAAAACAACTAAAGAAAATATCATAGAACTTGAAGAGCTTCCAGCTTGAACAATGAGAATAGATTCATACCAACATACATCACTGGAAATTTCAGAATATTATGACAACAAAGAGAACTCCCTACCAGCTCCCCTAGAGAAAAACACAGCAAATACAGATGATCAGAAATTCTAAGAGCAACATTGGAAGCAGGGTGGCAATGGAATAATGCCTTCAAATTACTGAATGCCTTCAAATTACCGACTCTCAACCTGTAAGTCTACACCAGCCAAAACACTGCATCCTTCCTCAAAAAGCTCCTAGAGGCTATGTCCTATTAAACAAGAGTAAACCAAGAAAGAAGACAAGATACAGGAAATGGGAGATCCTGCACAGGAGAGAGGCGAAGGAAAGCCCCAGGAGACTAGGATGACAGCTGGGTACTAGGCACAGACGAGAACCAGTTCGGATCAGAACAGCAGCTGCCAAGAGACAGGCATGTCTCAAAGTTCCTGCTGTCCTGCACTATCTTTTTAATGAGGGACAGAGCCAGGTGACCCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCN
pathogenic
153,124
Is the genetic variant on chromosome 9, position 132921833, gene TSC1 (TSC complex subunit 1), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
GCTGCCAAGAGACAGGCATGTCTCAAAGTTCCTGCTGTCCTGCACTATCTTTTTAATGAGGGACAGAGCCAGGTGACCCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAA
GCTGCCAAGAGACAGGCATGTCTCAAAGTTCCTGCTGTCCTGCACTATCTTTTTAATGAGGGACAGAGCCAGGTGACCCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAAN
pathogenic
153,141
Located at chromosome 9 position 132921833, the variant affecting gene TSC1 (TSC complex subunit 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
GCTGCCAAGAGACAGGCATGTCTCAAAGTTCCTGCTGTCCTGCACTATCTTTTTAATGAGGGACAGAGCCAGGTGACCCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAA
GCTGCCAAGAGACAGGCATGTCTCAAAGTTCCTGCTGTCCTGCACTATCTTTTTAATGAGGGACAGAGCCAGGTGACCCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAANN
pathogenic
153,142
A genetic variant at chromosome 9, position 132921894, affecting gene TSC1 (TSC complex subunit 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
pathogenic; ['Tuberous_sclerosis_1']
GACAGAGCCAGGTGACCCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAG
GACAGAGCCAGGTGACCCTGGCCTGTATAACTTGTCTGTACTTAGCTTGTCTTAACTACATACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGN
pathogenic
153,152
Considering the variant on chromosome 9, location 132921955, involving gene TSC1 (TSC complex subunit 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1']
ACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGC
ACTGATGAAATTCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAG
pathogenic
153,169
Regarding the variant at chromosome 9 and position 132921966, affecting gene TSC1 (TSC complex subunit 1): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
TCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTC
TCCTACTCTCCCTCCTCTGTCTGATCAGCAGAGGACATTCATTTTATCCCACAGAAGGATTCTGTCTGACCTATTCCTGAGAGCTGAAAGCAGGCGCAGAGAGCAGCTTCCCTGCCTGCCATATTTCACGCATGTCCAGTGCCTTGCCCTTGCTAGAAGCCTTGCCAGACGCTCTGATGAGGGTAAGCCTTGTGTTTCCCAGACTCATTCATGACCTTGTGCACTGACTTCCCAGAAGGGGCTGTGAAACCTCAGGGACAGTGAAACCACACCAAGACTCAGATGCGCTGGTCCTCCTCTCATCTCCTGGAAACCTTCAACTACTAGTGACAAGACTGCCCTTCTCTTAACCAGGCTTTGCCTCCTAGTCAACTAGCTTTTCAAAACAAAGCAATACCTACAGTAAAACTACAAAGAAAAGCAAGAGAATGATTAAAAGCAACAATGGTAGTTGTCTCTGAGGTAGTAGGGAGAAAAGAGGGGTTCTCCACGGGGAGCCTCTAAGGTACCAGTAATGTTCTGTTTTTTTTAAGCTAGGTGCCAGCTACATGTGTTTTTGTGTTATTATTAAACTTTACATACACATTTTCTATACTTCTCTACATATAATCTCACAATAAACTGCTTTAAGCTGGCTGAGGCTCTGTGTGGTAGAGGCAGTGTCTGTGGTGAGGTGAGATTCGCTGTTGGGGGATCAGGCAGTGAGCTAGCTTTTTCAGCAGGAGATCCCTAAGTGTCAGTATCCATGGGTCAGTTTCCCCAAAAAGGGCCAGCTCCCCTAACTGGGGAGCATAATAAGCCTGGCTACCAGGCAGAGACAAGCAGAGGGAAGGAGCTGGGCCTCCCACAGCTCAGTCTGTAAATTTCCTTTATCTCCCTCGCTCAGTCTTACCCTCAGTTCCACTCTCCACTGTGCCTGGAATCCTTCAATCAAGGGACTCAAAGGTTCGGTTTTTCCAGAGAACATACCTGGGGGCCTCTGTAGGGCCCTGGGGAGGATGGTATAGTCAACTGGCTTTGCAGAATGGAGAAAGGACCTCAGGGACTCCAAATACTTAATATAGGACTCCCTGAAGTCCTTTCTCCATTTTGCAAAGCCAGATTTATATATATGCTAAATTGTTTTTCTGCAGTCCCCTTGTTTTTAGCCATATGCTTCACCTCCTGCATCGCCCCATCACTGGCACTACTGAGGTGTAAGCCTTTCTGGGGGACAGGCACTTGTGCTGCAACTTTCTCCACTCTGCTAAATGTTATTAGTCCTCCGCCTGTGAAGAGTATGTTTTAAACTCACACAAATTTTAGCTGTATGAGTGCTTCCAAGTGGACTGATTCTGTAAGTAGAACATCTATATTCCCAAATATACCTCAACAGGGATTACCTCCTAGATCACATTTTCAATCTCTCGAAAGATTCTTTAAAATTTTGACACTAGTTTCTATACCTTCGAGGGTCCAGTTCATGGTCCTTGGATCCAGTCACTAATTCCGGATGAATTCGCACATGCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCAACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGT
pathogenic
153,170
The mutation in gene TSC1 (TSC complex subunit 1) at chromosome 9, position 132923472—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
GCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACAACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAAAGGCTCACTTCAAAGCAGTATTTAGAGACCAGTAAATTAAAATATATATATATGGAAACCTTTCAGCACGCCTACAGTTTAAATATTAAGTCAAATAAATAACTTCAGGCTAACTGAAGACACTTAACACCCAATGGATACTCAATCAGCTCTGACTAGCTAGCTACAGCAGCTCACCTGACCCATAATTAAATCATGAATGTTTGCCAGGTAGATGAAATTCAGATTTATGAAACAAGATATTAATCAAAAGACTACTATGTAGGTTAAGACATCCATTATTCCTATTAGAATAGGAATCTATGAGTCTGGGAATAAAGTTTTAAATATATTTTGATTTTTACATCAAGCATCAAGCCTTTCATTACGGAAGATATCCAGTAAGAATAATATATTGGTAGGAGAATTGAGAATATATGAGACTATATAATGATTCTCAGCAGAAAGAACTAGCCCTGATTTCATTTTCCTAACAGTCTAACTGAAGACTTATCCATGATTAACAAAACGTACTCTTTTGGAAAAGATAAGTGTTTTGCAATCTGAACTAAATGATGTGCCTCAAAATTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTAATTAGATTATATTCTCATCAATCCATTTGTTTAAAAAACATTAAGTTGTTAAAACTGTTCCTATTTTTTCTGAATTAAATGCATGTTTTTATAATACCCTGCCAATGTGACTCCTTGGGACCCACCTCTAGGGATAATAAAAGAGTTACCCTTCTTGGCAGACACAAAAATCAATTTGCATGGTGCTGTAGCAGATGAATCCAATGGTACTGCCATCCTGGAACAAATACTATTGGATATTTTCATGTCTCTGTGAGGTACAGGCAGTTAATATTAACCACATTTTCTTATTTTATAGATAGAAAACAAGTCCAGGAACTAAAACAGATTAAACAAATAACCCTGAGTATGGCTGCACGCCACTGTTAAAACTAAAACCATAAAGTTCTATTTAGATTTTGACTCCCTATATAGAAAAATGCACTAAATTTAGTGCAAAAAATAGAATGCAACTTAGTAGAATTTACATCAACAAAGTCTTAATTATAGCTGCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTA
GCTCCATCATTGGCTAGAAGAGTTGGGTTGACAAATTATAAAGGGCTGAATGTTTGTGGAACATCCAAATGATGGAATATTAGTTGACAATTAAAAGGAATGAAGTACTGATACATGTTATAACACAGATGGAACCTTGAGAACATTATACTGAGTGAAAGAAGCCAGTCACAAAAGACCACATATTATATGATCCCATTTATACAAAATGTCCAGAATAGGCAAATCTATTAAGACAGAAAACAGATTAGTGGCTGCCTAGGGATTGGAGTGGCGAGGAAGAAAACTGAATTTCTTTTCAAAATTTCCCTGTCTGCCGTTAAATACAAAAGGTATAAATGCAGCCTATCTAAACAGTATACTAAGTAGCAAACAAACAAGCAGTTTCAATTTACCTTGACCACTTCTTCAAAAGTCTCCAGGTTTTCTTTCATACTGTAATGAGAACGCAAAAAGGAGACGAAGTTGCAAGGGTACATTCCATAAAGGCGATGAAAGAGTGCGTACACACTGGCATGGAGATGGACGAGATAGACTTCCGCCACGTGGCCTAGAAAAGGAACCCGTTGAGAAGAGCCTCTTAGTTGGAGACAGATTGAGGAGTGCAAAACAGCTATAAACAAGTGGCTGCCAGCAGGACTTTTTATCTATGTATATTCCCACCTCACTCCAAAGACAGGAAGAGTGGTTTTCTAAAATGCAAACAAATCCGAACACACCAGACACCCTTATTTCAAATCCATCAATGGCTCCCTATAAGTTTTGGATAAATTCCAGTCTACTAGTATGATCCATGAAGGCTCTTCCTGATCTAACTTCTGCCCTCCTCTTCAGCCACTGCCCAAAAAGGATCCCAAACATTCTCACAATACTGAACTATCTTTATGATGATAGCTCTCTGTAAAATTTATACTTTTCCATTGCCGAATTCAGTACGAGCTTCTTGAGAAAAAAACTGTCTTACTTATTTCTCGGTGCTTTGCACTGGACCTGATATTTAACAAGCACTCAATATTTACAGAATGAATGTGTGAGACTCTTTTAAATCAGTATGTAGTCTTAGCTATGCAGATTTATAACTACAGAGTGAAAAAAACTATTATCTAGAAATTAGCTTAAAGAACTAAGAGTGAAAGAAATTGAACATCTTAATTTAGCCTTACCTAGACCCTGTGGAAACCCACGGCCACAGTATACATAAAGGTCCTCCAAAATAATGGACAGACCATTCCTTTTTCACAAAGGTCCTACTAAACAAGCAGGCACCACGTGGGCCTATGCTTGTAATTTAATCCTATACAGGAAGGCACGGTGTTCTGTCTCACAGGTCTGACATACTTCACCCTTTTGATAGAAATACCTCACACTGGGATAACCCAAAGATTCCAAATTTCACATGCTTACAGCTTCTGATCCCTTTGATAGAGCTCTGCTACCTGCCGATAGGGGAAAAAAAAAAACCACTGCATTTGAAGCTGGAGTGCTAATCAGGACACACCGCATTTCCCTCTGACTCCTACAGGTACAACGAGTGGGTTCTCAGAATCTGACATTTGCGTTCTGTCACAACAGAGCAGCCAAGGAAGACAGAAATGTCCCACAAGCTTAGTCCTGTACTGCTGCAATACAGACGGAGGCTGTTTTTCAGTTTATCAACAATCATAAAGTTTTACATCCTACCACTCAATTTCTCTGACGACTAATCCTTTTAAGCCAAGAAAATAAAAAAAGTTATCTCAACAGTCATGTTTCTTCTATGTGCCTGTAGTGGATGCACCCAAGATATTCCCTCATCTGTCTGGTGAAAACCACTCATTTCAGCTATAAAAGTCTACATGTCCATTCCTTACAGCATATGAGCAATTAATCAATAATGAAAGCATTCACCTCACAGGGCCCAACAGGTATATGAGGAGATCTGTACCTGGTTTCTTCAGGCACCATGATGACAGACGGCCAAAAATGTCAAAGAAATCAAGAAGATGCTGTTTCCCAGACTGTGGAATCATTGGTAGCATGGTTATCAACACCAAGACGCCTGTTGTGAGGACGACGTCAGTGTCCATCTGCAGGAGAAAAGGTCAAACAGGAAACGTCTGTCAGGCACTGGCACCAGGATCGGCATTGTACAGTACATGAAGAGGCTCTAAACACTGAGAGAATCACAAATCACAAGTTGACTCACGTACTCATTTCCCTATCCCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAAAGGCTCACTTCAAAGCAGTATTTAGAGACCAGTAAATTAAAATATATATATATGGAAACCTTTCAGCACGCCTACAGTTTAAATATTAAGTCAAATAAATAACTTCAGGCTAACTGAAGACACTTAACACCCAATGGATACTCAATCAGCTCTGACTAGCTAGCTACAGCAGCTCACCTGACCCATAATTAAATCATGAATGTTTGCCAGGTAGATGAAATTCAGATTTATGAAACAAGATATTAATCAAAAGACTACTATGTAGGTTAAGACATCCATTATTCCTATTAGAATAGGAATCTATGAGTCTGGGAATAAAGTTTTAAATATATTTTGATTTTTACATCAAGCATCAAGCCTTTCATTACGGAAGATATCCAGTAAGAATAATATATTGGTAGGAGAATTGAGAATATATGAGACTATATAATGATTCTCAGCAGAAAGAACTAGCCCTGATTTCATTTTCCTAACAGTCTAACTGAAGACTTATCCATGATTAACAAAACGTACTCTTTTGGAAAAGATAAGTGTTTTGCAATCTGAACTAAATGATGTGCCTCAAAATTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTAATTAGATTATATTCTCATCAATCCATTTGTTTAAAAAACATTAAGTTGTTAAAACTGTTCCTATTTTTTCTGAATTAAATGCATGTTTTTATAATACCCTGCCAATGTGACTCCTTGGGACCCACCTCTAGGGATAATAAAAGAGTTACCCTTCTTGGCAGACACAAAAATCAATTTGCATGGTGCTGTAGCAGATGAATCCAATGGTACTGCCATCCTGGAACAAATACTATTGGATATTTTCATGTCTCTGTGAGGTACAGGCAGTTAATATTAACCACATTTTCTTATTTTATAGATAGAAAACAAGTCCAGGAACTAAAACAGATTAAACAAATAACCCTGAGTATGGCTGCACGCCACTGTTAAAACTAAAACCATAAAGTTCTATTTAGATTTTGACTCCCTATATAGAAAAATGCACTAAATTTAGTGCAAAAAATAGAATGCAACTTAGTAGAATTTACATCAACAAAGTCTTAATTATAGCTGCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTANNN
pathogenic
153,197
Clinical significance of chromosome 9, position 132925677, gene TSC1 (TSC complex subunit 1): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Tuberous_sclerosis_1', 'Tuberous_sclerosis_syndrome']
CCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAAAGGCTCACTTCAAAGCAGTATTTAGAGACCAGTAAATTAAAATATATATATATGGAAACCTTTCAGCACGCCTACAGTTTAAATATTAAGTCAAATAAATAACTTCAGGCTAACTGAAGACACTTAACACCCAATGGATACTCAATCAGCTCTGACTAGCTAGCTACAGCAGCTCACCTGACCCATAATTAAATCATGAATGTTTGCCAGGTAGATGAAATTCAGATTTATGAAACAAGATATTAATCAAAAGACTACTATGTAGGTTAAGACATCCATTATTCCTATTAGAATAGGAATCTATGAGTCTGGGAATAAAGTTTTAAATATATTTTGATTTTTACATCAAGCATCAAGCCTTTCATTACGGAAGATATCCAGTAAGAATAATATATTGGTAGGAGAATTGAGAATATATGAGACTATATAATGATTCTCAGCAGAAAGAACTAGCCCTGATTTCATTTTCCTAACAGTCTAACTGAAGACTTATCCATGATTAACAAAACGTACTCTTTTGGAAAAGATAAGTGTTTTGCAATCTGAACTAAATGATGTGCCTCAAAATTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTAATTAGATTATATTCTCATCAATCCATTTGTTTAAAAAACATTAAGTTGTTAAAACTGTTCCTATTTTTTCTGAATTAAATGCATGTTTTTATAATACCCTGCCAATGTGACTCCTTGGGACCCACCTCTAGGGATAATAAAAGAGTTACCCTTCTTGGCAGACACAAAAATCAATTTGCATGGTGCTGTAGCAGATGAATCCAATGGTACTGCCATCCTGGAACAAATACTATTGGATATTTTCATGTCTCTGTGAGGTACAGGCAGTTAATATTAACCACATTTTCTTATTTTATAGATAGAAAACAAGTCCAGGAACTAAAACAGATTAAACAAATAACCCTGAGTATGGCTGCACGCCACTGTTAAAACTAAAACCATAAAGTTCTATTTAGATTTTGACTCCCTATATAGAAAAATGCACTAAATTTAGTGCAAAAAATAGAATGCAACTTAGTAGAATTTACATCAACAAAGTCTTAATTATAGCTGCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTCAGAAACTATACTCATAAAACCATTTCATTCAAATCCTTACAAACATCCTACCTTGAGACATTTTAGTAAAGAAGGCAAAAGAGGTGCTTGAGAGAGCTTATGCTTCCAAGATGGCTGCAGTCTTATGACATGACCCAGTAACGAGAGGATGGATAAACGAGTGGCGGCTTTGCCCACATATTCGTTAATCCTGTCCAAGAGGTGCTGAAAATGTAAAAGAACAAGGGCAGTCCTCACATGAATGTATGAAGTTAACACAAATAAAGACAGCAATGATGTGCTCCAATCTCTCAAGTCTTGTCTCTAATGTAAAGCAAGGGTCATGCAGATAAAAGGTCAAATTCAAGATTTTAAAAACCACGTTAGCAAACAAAACACTGCTGCATTTGGCCTGACAAAAGGCAGCCAGTTTGCAGCTCATGAAAAAGGACCCTACAATACACGCATGCAGAAAGGGGGAGACTTGTTCACAGCCCCTCAATAACCAACAGTCCCAAACTGTGATAGGTTACTGAAGCCATGAGGGGATCCTGCTGGAAGCAGCCACTTATTGCTAGAGCAACCCAGCCTACATGGTTTGGCCTCAAGTATCAATTAGGTAGTAGAAGTTACATTTCAGACCAGAGTAAACAAAAAAACAAGACGGGCCAGGCGCAGTGGCTCATGCCGGCAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGGCCAGGAGTTCAAGGTTACAGTGAGCTATGATTGTGCCACCACGCTCCAGTCTAGGGAACACAATGAGACCTCACCTCTTTAGAAAACAAAACAAAACAAGATGTACTGTAAAAGGCATGCAATACAAGGTCTTCAAATCCTGGGGAAGTTGCTCTCATATATACACTTAAGACTTACCAAAGTCTGCAATAACAATGCTTTATTAGCTACTTACTAAAAACAAAAGGAAAACATGAAGGAGCCCTCCAAGTGCCGGGTGCTAGGAAACAAGACTCATTAATTTGTCATGTTAGTCCTTTGTACTTGAAGCTTTTCCATATCGATAAAAGTCTAAAAATTCTATTCAAAGTATGGGTTGAAAGATGGGTACCTATGGGCCAAATCATCACTATACAATTATAGTACTGGAAATGTAAGATTTCTTTAAACAAGATCTTTTTTTTTTTTGAGACAGTTTCACTCTTGTTGCCCTGGAGTGCAATGGTGCAATCTCAGGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCA
CCTAAGGATTACTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAAAGGCTCACTTCAAAGCAGTATTTAGAGACCAGTAAATTAAAATATATATATATGGAAACCTTTCAGCACGCCTACAGTTTAAATATTAAGTCAAATAAATAACTTCAGGCTAACTGAAGACACTTAACACCCAATGGATACTCAATCAGCTCTGACTAGCTAGCTACAGCAGCTCACCTGACCCATAATTAAATCATGAATGTTTGCCAGGTAGATGAAATTCAGATTTATGAAACAAGATATTAATCAAAAGACTACTATGTAGGTTAAGACATCCATTATTCCTATTAGAATAGGAATCTATGAGTCTGGGAATAAAGTTTTAAATATATTTTGATTTTTACATCAAGCATCAAGCCTTTCATTACGGAAGATATCCAGTAAGAATAATATATTGGTAGGAGAATTGAGAATATATGAGACTATATAATGATTCTCAGCAGAAAGAACTAGCCCTGATTTCATTTTCCTAACAGTCTAACTGAAGACTTATCCATGATTAACAAAACGTACTCTTTTGGAAAAGATAAGTGTTTTGCAATCTGAACTAAATGATGTGCCTCAAAATTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTAATTAGATTATATTCTCATCAATCCATTTGTTTAAAAAACATTAAGTTGTTAAAACTGTTCCTATTTTTTCTGAATTAAATGCATGTTTTTATAATACCCTGCCAATGTGACTCCTTGGGACCCACCTCTAGGGATAATAAAAGAGTTACCCTTCTTGGCAGACACAAAAATCAATTTGCATGGTGCTGTAGCAGATGAATCCAATGGTACTGCCATCCTGGAACAAATACTATTGGATATTTTCATGTCTCTGTGAGGTACAGGCAGTTAATATTAACCACATTTTCTTATTTTATAGATAGAAAACAAGTCCAGGAACTAAAACAGATTAAACAAATAACCCTGAGTATGGCTGCACGCCACTGTTAAAACTAAAACCATAAAGTTCTATTTAGATTTTGACTCCCTATATAGAAAAATGCACTAAATTTAGTGCAAAAAATAGAATGCAACTTAGTAGAATTTACATCAACAAAGTCTTAATTATAGCTGCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTCAGAAACTATACTCATAAAACCATTTCATTCAAATCCTTACAAACATCCTACCTTGAGACATTTTAGTAAAGAAGGCAAAAGAGGTGCTTGAGAGAGCTTATGCTTCCAAGATGGCTGCAGTCTTATGACATGACCCAGTAACGAGGATGGATAAACGAGTGGCGGCTTTGCCCACATATTCGTTAATCCTGTCCAAGAGGTGCTGAAAATGTAAAAGAACAAGGGCAGTCCTCACATGAATGTATGAAGTTAACACAAATAAAGACAGCAATGATGTGCTCCAATCTCTCAAGTCTTGTCTCTAATGTAAAGCAAGGGTCATGCAGATAAAAGGTCAAATTCAAGATTTTAAAAACCACGTTAGCAAACAAAACACTGCTGCATTTGGCCTGACAAAAGGCAGCCAGTTTGCAGCTCATGAAAAAGGACCCTACAATACACGCATGCAGAAAGGGGGAGACTTGTTCACAGCCCCTCAATAACCAACAGTCCCAAACTGTGATAGGTTACTGAAGCCATGAGGGGATCCTGCTGGAAGCAGCCACTTATTGCTAGAGCAACCCAGCCTACATGGTTTGGCCTCAAGTATCAATTAGGTAGTAGAAGTTACATTTCAGACCAGAGTAAACAAAAAAACAAGACGGGCCAGGCGCAGTGGCTCATGCCGGCAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGGCCAGGAGTTCAAGGTTACAGTGAGCTATGATTGTGCCACCACGCTCCAGTCTAGGGAACACAATGAGACCTCACCTCTTTAGAAAACAAAACAAAACAAGATGTACTGTAAAAGGCATGCAATACAAGGTCTTCAAATCCTGGGGAAGTTGCTCTCATATATACACTTAAGACTTACCAAAGTCTGCAATAACAATGCTTTATTAGCTACTTACTAAAAACAAAAGGAAAACATGAAGGAGCCCTCCAAGTGCCGGGTGCTAGGAAACAAGACTCATTAATTTGTCATGTTAGTCCTTTGTACTTGAAGCTTTTCCATATCGATAAAAGTCTAAAAATTCTATTCAAAGTATGGGTTGAAAGATGGGTACCTATGGGCCAAATCATCACTATACAATTATAGTACTGGAAATGTAAGATTTCTTTAAACAAGATCTTTTTTTTTTTTGAGACAGTTTCACTCTTGTTGCCCTGGAGTGCAATGGTGCAATCTCAGGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCANN
pathogenic
153,221
Located at chromosome 9 position 132925688, the variant affecting gene TSC1 (TSC complex subunit 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Tuberous_sclerosis_1']
CTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAAAGGCTCACTTCAAAGCAGTATTTAGAGACCAGTAAATTAAAATATATATATATGGAAACCTTTCAGCACGCCTACAGTTTAAATATTAAGTCAAATAAATAACTTCAGGCTAACTGAAGACACTTAACACCCAATGGATACTCAATCAGCTCTGACTAGCTAGCTACAGCAGCTCACCTGACCCATAATTAAATCATGAATGTTTGCCAGGTAGATGAAATTCAGATTTATGAAACAAGATATTAATCAAAAGACTACTATGTAGGTTAAGACATCCATTATTCCTATTAGAATAGGAATCTATGAGTCTGGGAATAAAGTTTTAAATATATTTTGATTTTTACATCAAGCATCAAGCCTTTCATTACGGAAGATATCCAGTAAGAATAATATATTGGTAGGAGAATTGAGAATATATGAGACTATATAATGATTCTCAGCAGAAAGAACTAGCCCTGATTTCATTTTCCTAACAGTCTAACTGAAGACTTATCCATGATTAACAAAACGTACTCTTTTGGAAAAGATAAGTGTTTTGCAATCTGAACTAAATGATGTGCCTCAAAATTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTAATTAGATTATATTCTCATCAATCCATTTGTTTAAAAAACATTAAGTTGTTAAAACTGTTCCTATTTTTTCTGAATTAAATGCATGTTTTTATAATACCCTGCCAATGTGACTCCTTGGGACCCACCTCTAGGGATAATAAAAGAGTTACCCTTCTTGGCAGACACAAAAATCAATTTGCATGGTGCTGTAGCAGATGAATCCAATGGTACTGCCATCCTGGAACAAATACTATTGGATATTTTCATGTCTCTGTGAGGTACAGGCAGTTAATATTAACCACATTTTCTTATTTTATAGATAGAAAACAAGTCCAGGAACTAAAACAGATTAAACAAATAACCCTGAGTATGGCTGCACGCCACTGTTAAAACTAAAACCATAAAGTTCTATTTAGATTTTGACTCCCTATATAGAAAAATGCACTAAATTTAGTGCAAAAAATAGAATGCAACTTAGTAGAATTTACATCAACAAAGTCTTAATTATAGCTGCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTCAGAAACTATACTCATAAAACCATTTCATTCAAATCCTTACAAACATCCTACCTTGAGACATTTTAGTAAAGAAGGCAAAAGAGGTGCTTGAGAGAGCTTATGCTTCCAAGATGGCTGCAGTCTTATGACATGACCCAGTAACGAGAGGATGGATAAACGAGTGGCGGCTTTGCCCACATATTCGTTAATCCTGTCCAAGAGGTGCTGAAAATGTAAAAGAACAAGGGCAGTCCTCACATGAATGTATGAAGTTAACACAAATAAAGACAGCAATGATGTGCTCCAATCTCTCAAGTCTTGTCTCTAATGTAAAGCAAGGGTCATGCAGATAAAAGGTCAAATTCAAGATTTTAAAAACCACGTTAGCAAACAAAACACTGCTGCATTTGGCCTGACAAAAGGCAGCCAGTTTGCAGCTCATGAAAAAGGACCCTACAATACACGCATGCAGAAAGGGGGAGACTTGTTCACAGCCCCTCAATAACCAACAGTCCCAAACTGTGATAGGTTACTGAAGCCATGAGGGGATCCTGCTGGAAGCAGCCACTTATTGCTAGAGCAACCCAGCCTACATGGTTTGGCCTCAAGTATCAATTAGGTAGTAGAAGTTACATTTCAGACCAGAGTAAACAAAAAAACAAGACGGGCCAGGCGCAGTGGCTCATGCCGGCAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGGCCAGGAGTTCAAGGTTACAGTGAGCTATGATTGTGCCACCACGCTCCAGTCTAGGGAACACAATGAGACCTCACCTCTTTAGAAAACAAAACAAAACAAGATGTACTGTAAAAGGCATGCAATACAAGGTCTTCAAATCCTGGGGAAGTTGCTCTCATATATACACTTAAGACTTACCAAAGTCTGCAATAACAATGCTTTATTAGCTACTTACTAAAAACAAAAGGAAAACATGAAGGAGCCCTCCAAGTGCCGGGTGCTAGGAAACAAGACTCATTAATTTGTCATGTTAGTCCTTTGTACTTGAAGCTTTTCCATATCGATAAAAGTCTAAAAATTCTATTCAAAGTATGGGTTGAAAGATGGGTACCTATGGGCCAAATCATCACTATACAATTATAGTACTGGAAATGTAAGATTTCTTTAAACAAGATCTTTTTTTTTTTTGAGACAGTTTCACTCTTGTTGCCCTGGAGTGCAATGGTGCAATCTCAGGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACATTGGCC
CTGAAGGGATAACATTCAAACAGACTCAACAGAACACTGAGCCCCAACTCTACTGTAATGAGTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAAAGGCTCACTTCAAAGCAGTATTTAGAGACCAGTAAATTAAAATATATATATATGGAAACCTTTCAGCACGCCTACAGTTTAAATATTAAGTCAAATAAATAACTTCAGGCTAACTGAAGACACTTAACACCCAATGGATACTCAATCAGCTCTGACTAGCTAGCTACAGCAGCTCACCTGACCCATAATTAAATCATGAATGTTTGCCAGGTAGATGAAATTCAGATTTATGAAACAAGATATTAATCAAAAGACTACTATGTAGGTTAAGACATCCATTATTCCTATTAGAATAGGAATCTATGAGTCTGGGAATAAAGTTTTAAATATATTTTGATTTTTACATCAAGCATCAAGCCTTTCATTACGGAAGATATCCAGTAAGAATAATATATTGGTAGGAGAATTGAGAATATATGAGACTATATAATGATTCTCAGCAGAAAGAACTAGCCCTGATTTCATTTTCCTAACAGTCTAACTGAAGACTTATCCATGATTAACAAAACGTACTCTTTTGGAAAAGATAAGTGTTTTGCAATCTGAACTAAATGATGTGCCTCAAAATTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTAATTAGATTATATTCTCATCAATCCATTTGTTTAAAAAACATTAAGTTGTTAAAACTGTTCCTATTTTTTCTGAATTAAATGCATGTTTTTATAATACCCTGCCAATGTGACTCCTTGGGACCCACCTCTAGGGATAATAAAAGAGTTACCCTTCTTGGCAGACACAAAAATCAATTTGCATGGTGCTGTAGCAGATGAATCCAATGGTACTGCCATCCTGGAACAAATACTATTGGATATTTTCATGTCTCTGTGAGGTACAGGCAGTTAATATTAACCACATTTTCTTATTTTATAGATAGAAAACAAGTCCAGGAACTAAAACAGATTAAACAAATAACCCTGAGTATGGCTGCACGCCACTGTTAAAACTAAAACCATAAAGTTCTATTTAGATTTTGACTCCCTATATAGAAAAATGCACTAAATTTAGTGCAAAAAATAGAATGCAACTTAGTAGAATTTACATCAACAAAGTCTTAATTATAGCTGCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTCAGAAACTATACTCATAAAACCATTTCATTCAAATCCTTACAAACATCCTACCTTGAGACATTTTAGTAAAGAAGGCAAAAGAGGTGCTTGAGAGAGCTTATGCTTCCAAGATGGCTGCAGTCTTATGACATGACCCAGTAACGAGAGGATGGATTAAACGAGTGGCGGCTTTGCCCACATATTCGTTAATCCTGTCCAAGAGGTGCTGAAAATGTAAAAGAACAAGGGCAGTCCTCACATGAATGTATGAAGTTAACACAAATAAAGACAGCAATGATGTGCTCCAATCTCTCAAGTCTTGTCTCTAATGTAAAGCAAGGGTCATGCAGATAAAAGGTCAAATTCAAGATTTTAAAAACCACGTTAGCAAACAAAACACTGCTGCATTTGGCCTGACAAAAGGCAGCCAGTTTGCAGCTCATGAAAAAGGACCCTACAATACACGCATGCAGAAAGGGGGAGACTTGTTCACAGCCCCTCAATAACCAACAGTCCCAAACTGTGATAGGTTACTGAAGCCATGAGGGGATCCTGCTGGAAGCAGCCACTTATTGCTAGAGCAACCCAGCCTACATGGTTTGGCCTCAAGTATCAATTAGGTAGTAGAAGTTACATTTCAGACCAGAGTAAACAAAAAAACAAGACGGGCCAGGCGCAGTGGCTCATGCCGGCAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGGCCAGGAGTTCAAGGTTACAGTGAGCTATGATTGTGCCACCACGCTCCAGTCTAGGGAACACAATGAGACCTCACCTCTTTAGAAAACAAAACAAAACAAGATGTACTGTAAAAGGCATGCAATACAAGGTCTTCAAATCCTGGGGAAGTTGCTCTCATATATACACTTAAGACTTACCAAAGTCTGCAATAACAATGCTTTATTAGCTACTTACTAAAAACAAAAGGAAAACATGAAGGAGCCCTCCAAGTGCCGGGTGCTAGGAAACAAGACTCATTAATTTGTCATGTTAGTCCTTTGTACTTGAAGCTTTTCCATATCGATAAAAGTCTAAAAATTCTATTCAAAGTATGGGTTGAAAGATGGGTACCTATGGGCCAAATCATCACTATACAATTATAGTACTGGAAATGTAAGATTTCTTTAAACAAGATCTTTTTTTTTTTTGAGACAGTTTCACTCTTGTTGCCCTGGAGTGCAATGGTGCAATCTCAGGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACATTGGC
pathogenic
153,224
Chromosome 9, position 132925749, gene TSC1 (TSC complex subunit 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
benign
GTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAAAGGCTCACTTCAAAGCAGTATTTAGAGACCAGTAAATTAAAATATATATATATGGAAACCTTTCAGCACGCCTACAGTTTAAATATTAAGTCAAATAAATAACTTCAGGCTAACTGAAGACACTTAACACCCAATGGATACTCAATCAGCTCTGACTAGCTAGCTACAGCAGCTCACCTGACCCATAATTAAATCATGAATGTTTGCCAGGTAGATGAAATTCAGATTTATGAAACAAGATATTAATCAAAAGACTACTATGTAGGTTAAGACATCCATTATTCCTATTAGAATAGGAATCTATGAGTCTGGGAATAAAGTTTTAAATATATTTTGATTTTTACATCAAGCATCAAGCCTTTCATTACGGAAGATATCCAGTAAGAATAATATATTGGTAGGAGAATTGAGAATATATGAGACTATATAATGATTCTCAGCAGAAAGAACTAGCCCTGATTTCATTTTCCTAACAGTCTAACTGAAGACTTATCCATGATTAACAAAACGTACTCTTTTGGAAAAGATAAGTGTTTTGCAATCTGAACTAAATGATGTGCCTCAAAATTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTAATTAGATTATATTCTCATCAATCCATTTGTTTAAAAAACATTAAGTTGTTAAAACTGTTCCTATTTTTTCTGAATTAAATGCATGTTTTTATAATACCCTGCCAATGTGACTCCTTGGGACCCACCTCTAGGGATAATAAAAGAGTTACCCTTCTTGGCAGACACAAAAATCAATTTGCATGGTGCTGTAGCAGATGAATCCAATGGTACTGCCATCCTGGAACAAATACTATTGGATATTTTCATGTCTCTGTGAGGTACAGGCAGTTAATATTAACCACATTTTCTTATTTTATAGATAGAAAACAAGTCCAGGAACTAAAACAGATTAAACAAATAACCCTGAGTATGGCTGCACGCCACTGTTAAAACTAAAACCATAAAGTTCTATTTAGATTTTGACTCCCTATATAGAAAAATGCACTAAATTTAGTGCAAAAAATAGAATGCAACTTAGTAGAATTTACATCAACAAAGTCTTAATTATAGCTGCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTCAGAAACTATACTCATAAAACCATTTCATTCAAATCCTTACAAACATCCTACCTTGAGACATTTTAGTAAAGAAGGCAAAAGAGGTGCTTGAGAGAGCTTATGCTTCCAAGATGGCTGCAGTCTTATGACATGACCCAGTAACGAGAGGATGGATAAACGAGTGGCGGCTTTGCCCACATATTCGTTAATCCTGTCCAAGAGGTGCTGAAAATGTAAAAGAACAAGGGCAGTCCTCACATGAATGTATGAAGTTAACACAAATAAAGACAGCAATGATGTGCTCCAATCTCTCAAGTCTTGTCTCTAATGTAAAGCAAGGGTCATGCAGATAAAAGGTCAAATTCAAGATTTTAAAAACCACGTTAGCAAACAAAACACTGCTGCATTTGGCCTGACAAAAGGCAGCCAGTTTGCAGCTCATGAAAAAGGACCCTACAATACACGCATGCAGAAAGGGGGAGACTTGTTCACAGCCCCTCAATAACCAACAGTCCCAAACTGTGATAGGTTACTGAAGCCATGAGGGGATCCTGCTGGAAGCAGCCACTTATTGCTAGAGCAACCCAGCCTACATGGTTTGGCCTCAAGTATCAATTAGGTAGTAGAAGTTACATTTCAGACCAGAGTAAACAAAAAAACAAGACGGGCCAGGCGCAGTGGCTCATGCCGGCAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGGCCAGGAGTTCAAGGTTACAGTGAGCTATGATTGTGCCACCACGCTCCAGTCTAGGGAACACAATGAGACCTCACCTCTTTAGAAAACAAAACAAAACAAGATGTACTGTAAAAGGCATGCAATACAAGGTCTTCAAATCCTGGGGAAGTTGCTCTCATATATACACTTAAGACTTACCAAAGTCTGCAATAACAATGCTTTATTAGCTACTTACTAAAAACAAAAGGAAAACATGAAGGAGCCCTCCAAGTGCCGGGTGCTAGGAAACAAGACTCATTAATTTGTCATGTTAGTCCTTTGTACTTGAAGCTTTTCCATATCGATAAAAGTCTAAAAATTCTATTCAAAGTATGGGTTGAAAGATGGGTACCTATGGGCCAAATCATCACTATACAATTATAGTACTGGAAATGTAAGATTTCTTTAAACAAGATCTTTTTTTTTTTTGAGACAGTTTCACTCTTGTTGCCCTGGAGTGCAATGGTGCAATCTCAGGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACATTGGCCAACATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGGA
GTCAGTGAGGACCATTTACAACACACCTATGCAAAGGCATCCGGGAGACGAGTTCAAACTTGACTTGGGGACACCCAAGTCCTGCAGCCTTAGGATGCCCTATTGATAGCAGTTGGATGAAAACAAAAGGAGCTGCTTTTCAACAAAACACAGGAGCACTGCTCTGTTTCATTCATTCAACCAAATCCTAAGATACTTACTTTTTGTTAATTAAAAAAAAAAAAAACTGCACATTGACAAGTAACTTACTATTTTTTAAAGAACTACAACAGAAGTATAATTGAAGGAGAAATTCATATAGCACTAACAAGTCAACTTAAAGGCTCACTTCAAAGCAGTATTTAGAGACCAGTAAATTAAAATATATATATATGGAAACCTTTCAGCACGCCTACAGTTTAAATATTAAGTCAAATAAATAACTTCAGGCTAACTGAAGACACTTAACACCCAATGGATACTCAATCAGCTCTGACTAGCTAGCTACAGCAGCTCACCTGACCCATAATTAAATCATGAATGTTTGCCAGGTAGATGAAATTCAGATTTATGAAACAAGATATTAATCAAAAGACTACTATGTAGGTTAAGACATCCATTATTCCTATTAGAATAGGAATCTATGAGTCTGGGAATAAAGTTTTAAATATATTTTGATTTTTACATCAAGCATCAAGCCTTTCATTACGGAAGATATCCAGTAAGAATAATATATTGGTAGGAGAATTGAGAATATATGAGACTATATAATGATTCTCAGCAGAAAGAACTAGCCCTGATTTCATTTTCCTAACAGTCTAACTGAAGACTTATCCATGATTAACAAAACGTACTCTTTTGGAAAAGATAAGTGTTTTGCAATCTGAACTAAATGATGTGCCTCAAAATTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTTAGATTATATTCTCATCAATCCATTTAGATTATATTCTCACCAATCCATTAATTAGATTATATTCTCATCAATCCATTTGTTTAAAAAACATTAAGTTGTTAAAACTGTTCCTATTTTTTCTGAATTAAATGCATGTTTTTATAATACCCTGCCAATGTGACTCCTTGGGACCCACCTCTAGGGATAATAAAAGAGTTACCCTTCTTGGCAGACACAAAAATCAATTTGCATGGTGCTGTAGCAGATGAATCCAATGGTACTGCCATCCTGGAACAAATACTATTGGATATTTTCATGTCTCTGTGAGGTACAGGCAGTTAATATTAACCACATTTTCTTATTTTATAGATAGAAAACAAGTCCAGGAACTAAAACAGATTAAACAAATAACCCTGAGTATGGCTGCACGCCACTGTTAAAACTAAAACCATAAAGTTCTATTTAGATTTTGACTCCCTATATAGAAAAATGCACTAAATTTAGTGCAAAAAATAGAATGCAACTTAGTAGAATTTACATCAACAAAGTCTTAATTATAGCTGCAACCAGACCATACTCCTAAATGGTTAACAGAAACTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTCAGAAACTATACTCATAAAACCATTTCATTCAAATCCTTACAAACATCCTACCTTGAGACATTTTAGTAAAGAAGGCAAAAGAGGTGCTTGAGAGAGCTTATGCTTCCAAGATGGCTGCAGTCTTATGACATGACCCAGTAACGAGAGGATGGATAAACGAGTGGCGGCTTTGCCCACATATTCGTTAATCCTGTCCAAGAGGTGCTGAAAATGTAAAAAGAACAAGGGCAGTCCTCACATGAATGTATGAAGTTAACACAAATAAAGACAGCAATGATGTGCTCCAATCTCTCAAGTCTTGTCTCTAATGTAAAGCAAGGGTCATGCAGATAAAAGGTCAAATTCAAGATTTTAAAAACCACGTTAGCAAACAAAACACTGCTGCATTTGGCCTGACAAAAGGCAGCCAGTTTGCAGCTCATGAAAAAGGACCCTACAATACACGCATGCAGAAAGGGGGAGACTTGTTCACAGCCCCTCAATAACCAACAGTCCCAAACTGTGATAGGTTACTGAAGCCATGAGGGGATCCTGCTGGAAGCAGCCACTTATTGCTAGAGCAACCCAGCCTACATGGTTTGGCCTCAAGTATCAATTAGGTAGTAGAAGTTACATTTCAGACCAGAGTAAACAAAAAAACAAGACGGGCCAGGCGCAGTGGCTCATGCCGGCAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGGCCAGGAGTTCAAGGTTACAGTGAGCTATGATTGTGCCACCACGCTCCAGTCTAGGGAACACAATGAGACCTCACCTCTTTAGAAAACAAAACAAAACAAGATGTACTGTAAAAGGCATGCAATACAAGGTCTTCAAATCCTGGGGAAGTTGCTCTCATATATACACTTAAGACTTACCAAAGTCTGCAATAACAATGCTTTATTAGCTACTTACTAAAAACAAAAGGAAAACATGAAGGAGCCCTCCAAGTGCCGGGTGCTAGGAAACAAGACTCATTAATTTGTCATGTTAGTCCTTTGTACTTGAAGCTTTTCCATATCGATAAAAGTCTAAAAATTCTATTCAAAGTATGGGTTGAAAGATGGGTACCTATGGGCCAAATCATCACTATACAATTATAGTACTGGAAATGTAAGATTTCTTTAAACAAGATCTTTTTTTTTTTTGAGACAGTTTCACTCTTGTTGCCCTGGAGTGCAATGGTGCAATCTCAGGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACATTGGCCAACATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGG
benign
153,237
Benign or pathogenic: chromosome 9, position 132927264, gene TSC1 (TSC complex subunit 1) variant? Disease(s) if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Tuberous_sclerosis_1']
CTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTCAGAAACTATACTCATAAAACCATTTCATTCAAATCCTTACAAACATCCTACCTTGAGACATTTTAGTAAAGAAGGCAAAAGAGGTGCTTGAGAGAGCTTATGCTTCCAAGATGGCTGCAGTCTTATGACATGACCCAGTAACGAGAGGATGGATAAACGAGTGGCGGCTTTGCCCACATATTCGTTAATCCTGTCCAAGAGGTGCTGAAAATGTAAAAGAACAAGGGCAGTCCTCACATGAATGTATGAAGTTAACACAAATAAAGACAGCAATGATGTGCTCCAATCTCTCAAGTCTTGTCTCTAATGTAAAGCAAGGGTCATGCAGATAAAAGGTCAAATTCAAGATTTTAAAAACCACGTTAGCAAACAAAACACTGCTGCATTTGGCCTGACAAAAGGCAGCCAGTTTGCAGCTCATGAAAAAGGACCCTACAATACACGCATGCAGAAAGGGGGAGACTTGTTCACAGCCCCTCAATAACCAACAGTCCCAAACTGTGATAGGTTACTGAAGCCATGAGGGGATCCTGCTGGAAGCAGCCACTTATTGCTAGAGCAACCCAGCCTACATGGTTTGGCCTCAAGTATCAATTAGGTAGTAGAAGTTACATTTCAGACCAGAGTAAACAAAAAAACAAGACGGGCCAGGCGCAGTGGCTCATGCCGGCAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGGCCAGGAGTTCAAGGTTACAGTGAGCTATGATTGTGCCACCACGCTCCAGTCTAGGGAACACAATGAGACCTCACCTCTTTAGAAAACAAAACAAAACAAGATGTACTGTAAAAGGCATGCAATACAAGGTCTTCAAATCCTGGGGAAGTTGCTCTCATATATACACTTAAGACTTACCAAAGTCTGCAATAACAATGCTTTATTAGCTACTTACTAAAAACAAAAGGAAAACATGAAGGAGCCCTCCAAGTGCCGGGTGCTAGGAAACAAGACTCATTAATTTGTCATGTTAGTCCTTTGTACTTGAAGCTTTTCCATATCGATAAAAGTCTAAAAATTCTATTCAAAGTATGGGTTGAAAGATGGGTACCTATGGGCCAAATCATCACTATACAATTATAGTACTGGAAATGTAAGATTTCTTTAAACAAGATCTTTTTTTTTTTTGAGACAGTTTCACTCTTGTTGCCCTGGAGTGCAATGGTGCAATCTCAGGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACATTGGCCAACATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCGCCACACCTGGCCCTTTATTGCTTTTTTAATTACAAAAAATAATCCATATCTACTGTTAAACATTCAGGCTATGTAAAAGTACATAAAATAAAAATGAAAGTGCTCCTCACCACCTGCCTCCCAACCCACTCTTCACAGATAAACACCCTTAAGTTTAGAGTGTGTCTCTTCAAACCCTTTTCTACTTGTATAACCACACGCACACAGCCCTCATGTCCACAGACACAGACACAGTTTGTGCATGTGTGTGTTTTTTCCACTGAACAGTATGTTGTAACCACCTTCCCACGTCAGCATCTATGGCCTATTTCATTTCTTTCCGTCCTCCTAGTGTTCCACTGCATGGCTCTACATAACTAATTTAACCATTCACCTACTGAAGGATACTTGGGTTTTTCCAATTCTTCACTGTATTTCACTCAAAGCTGTAATAAGATACAGATTCTTATAAATGGCCCAAATGGTATGTGTTTTAAAATTGATGACTGATGCTCCAAAAGGCTGAACATCAATTCATATTCCTGCTAACAGTGCCCATTTCTATATTCAATATTTAATTTTGCCAACCTGGTAAGCAAAAAAGGGTACTATTTAAATTTGTATTTCTCATATTAAAAAGAGGTTAAGCACTTTTCATATTAAAAACCACATATATGATTTACAGTTAAAGCAACATCTGGAATTTGCTTTAAAATATTTGGAGGGTGGGAGAGTCAGGGAGGAAAGAATTTGAAACTGGATTCATGGGGTTCACTGCATGATTCTTACTTCATGTGTGTGCATACTTGAGTATTTCCATAATTGAAAGTTTAAAACACATATAGATACTCTCTTTGGGTGTTTAAAAAACTTTTCAGAAGATGAAAACTAAAATGTATCAGCAGGATTCTAGTGGCTCTAAAGTCAATCTCTTCTTTCTAGAAGATAAGCTAAAAAGGATATTATTTTGCTAACCAGAATTGAGGTTCTCTTTAAAGACAGCTGTCACGTCGTCCCGCACACCCAGCATGGGGGAGTCCAGCATGGCAAGAAGCTCCCCGACATTTGCTTGTTGGGCCATTCTCTCGCTCGAAGGCGCTGTGCTGGCTCCAGGACGTGTGCTACAGGTTCTGAAGGTTCTTCATTGGGGCCACTACCAAACTGAGAAAAAGGAAGATGAACAGTCACTAAATGGCCCCATTTTTCTCCATAAAAAAAGAAAATACCTGCAAGACAAACTAATGCACGTGTTCAATGCAATGGAAAGTTTGGCCAGAATTCTCTGATTCAAACAGTGAGTACATTTAGCTGATAAAAGAAGATAAAGTGTATGAATAATTCTTTGGCGAGTTTATGAAGAGGGTTTCTACAAAATATAACAATCAGAAAGAAACCTTAAAAACTGATACCAGTCACAGCAACTTAATGATAGGATCAAATCTAAGTTTTATTCCTACTTCTGATTCTACCTTGGGTTTTGGCTAAGACCACATTTATATTTCAAATTATTGATCTAAAAA
CTTTAAGCCATTTTTCTATTAGCTAAAAGATAATTTAGAAACAGGGATTCCCAAAAGATAATCCAGGATGTTTTTAAATGAGGGAAGGCTAAACGATGACGAAATCAAGAGGTTTGGAATAATGTAACATTGAACCCATCTGATCGAAATTTTTCCATACTTGCATGGACAAGGTATTCAATAGTCATAGTGATGTATTTGAGAACTTACTAAGTACCAACTCTGGACAACATTCTATTTGAGAAAAGCCAAATGCCTAGAAGGTTTTAAACTCTAAAAGTTAAAATCTAGCTTCCTTGCTTTAAGTTGCCTAAAATTTCAGAAACTATACTCATAAAACCATTTCATTCAAATCCTTACAAACATCCTACCTTGAGACATTTTAGTAAAGAAGGCAAAAGAGGTGCTTGAGAGAGCTTATGCTTCCAAGATGGCTGCAGTCTTATGACATGACCCAGTAACGAGAGGATGGATAAACGAGTGGCGGCTTTGCCCACATATTCGTTAATCCTGTCCAAGAGGTGCTGAAAATGTAAAAGAACAAGGGCAGTCCTCACATGAATGTATGAAGTTAACACAAATAAAGACAGCAATGATGTGCTCCAATCTCTCAAGTCTTGTCTCTAATGTAAAGCAAGGGTCATGCAGATAAAAGGTCAAATTCAAGATTTTAAAAACCACGTTAGCAAACAAAACACTGCTGCATTTGGCCTGACAAAAGGCAGCCAGTTTGCAGCTCATGAAAAAGGACCCTACAATACACGCATGCAGAAAGGGGGAGACTTGTTCACAGCCCCTCAATAACCAACAGTCCCAAACTGTGATAGGTTACTGAAGCCATGAGGGGATCCTGCTGGAAGCAGCCACTTATTGCTAGAGCAACCCAGCCTACATGGTTTGGCCTCAAGTATCAATTAGGTAGTAGAAGTTACATTTCAGACCAGAGTAAACAAAAAAACAAGACGGGCCAGGCGCAGTGGCTCATGCCGGCAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATAGCTTGAGGCCAGGAGTTCAAGGTTACAGTGAGCTATGATTGTGCCACCACGCTCCAGTCTAGGGAACACAATGAGACCTCACCTCTTTAGAAAACAAAACAAAACAAGATGTACTGTAAAAGGCATGCAATACAAGGTCTTCAAATCCTGGGGAAGTTGCTCTCATATATACACTTAAGACTTACCAAAGTCTGCAATAACAATGCTTTATTAGCTACTTACTAAAAACAAAAGGAAAACATGAAGGAGCCCTCCAAGTGCCGGGTGCTAGGAAACAAGACTCATTAATTTGTCATGTTAGTCCTTTGTACTTGAAGCTTTTCCATATCGATAAAAGTCTAAAAATTCTATTCAAAGTATGGGTTGAAAGATGGGTACCTATGGGCCAAATCATCACTATACAATTATAGTACTGGAAATGTAAGATTTCTTTAAACAAGATCTTTTTTTTTTTTGAGACAGTTTCACTCTTGTTGCCCTGGAGTGCAATGGTGCAATCTCAGGTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACATTGGCCAACATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCGCCACACCTGGCCCTTTATTGCTTTTTTAATTACAAAAAATAATCCATATCTACTGTTAAACATTCAGGCTATGTAAAAGTACATAAAATAAAAATGAAAGTGCTCCTCACCACCTGCCTCCCAACCCACTCTTCACAGATAAACACCCTTAAGTTTAGAGTGTGTCTCTTCAAACCCTTTTCTACTTGTATAACCACACGCACACAGCCCTCATGTCCACAGACACAGACACAGTTTGTGCATGTGTGTGTTTTTTCCACTGAACAGTATGTTGTAACCACCTTCCCACGTCAGCATCTATGGCCTATTTCATTTCTTTCCGTCCTCCTAGTGTTCCACTGCATGGCTCTACATAACTAATTTAACCATTCACCTACTGAAGGATACTTGGGTTTTTCCAATTCTTCACTGTATTTCACTCAAAGCTGTAATAAGATACAGATTCTTATAAATGGCCCAAATGGTATGTGTTTTAAAATTGATGACTGATGCTCCAAAAGGCTGAACATCAATTCATATTCCTGCTAACAGTGCCCATTTCTATATTCAATATTTAATTTTGCCAACCTGGTAAGCAAAAAAGGGTACTATTTAAATTTGTATTTCTCATATTAAAAAGAGGTTAAGCACTTTTCATATTAAAAACCACATATATGATTTACAGTTAAAGCAACATCTGGAATTTGCTTTAAAATATTTGGAGGGTGGGAGAGTCAGGGAGGAAAGAATTTGAAACTGGATTCATGGGGTTCACTGCATGATTCTTACTTCATGTGTGTGCATACTTGAGTATTTCCATAATTGAAAGTTTAAAACACATATAGATACTCTCTTTGGGTGTTTAAAAAACTTTTCAGAAGATGAAAACTAAAATGTATCAGCAGGATTCTAGTGGCTCTAAAGTCAATCTCTTCTTTCTAGAAGATAAGCTAAAAAGGATATTATTTTGCTAACCAGAATTGAGGTTCTCTTTAAAGACAGCTGTCACGTCGTCCCGCACACCCAGCATGGGGGAGTCCAGCATGGCAAGAAGCTCCCCGACATTTGCTTGTTGGGCCATTCTCTCGCTCGAAGGCGCTGTGCTGGCTCCAGGACGTGTGCTACAGGTTCTGAAGGTTCTTCATTGGGGCCACTACCAAACTGAGAAAAAGGAAGATGAACAGTCACTAAATGGCCCCATTTTTCTCCATAAAAAAAGAAAATACCTGCAAGACAAACTAATGCACGTGTTCAATGCAATGGAAAGTTTGGCCAGAATTCTCTGATTCAAACAGTGAGTACATTTAGCTGATAAAAGAAGATAAAGTGTATGAATAATTCTTTGGCGAGTTTATGAAGAGGGTTTCTACAAAATATAACAATCAGAAAGAAACCTTAAAAACTGATACCAGTCACAGCAACTTAATGATAGGATCAAATCTAAGTTTTATTCCTACTTCTGATTCTACCTTGGGTTTTGGCTAAGACCACATTTATATTTCAAATTATTGATCTAAAAANNNNNNN
pathogenic
153,262
Variant in gene TSC1 (TSC complex subunit 1), located at chromosome 9 position 132928798: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Tuberous_sclerosis_1']
CTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACATTGGCCAACATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCGCCACACCTGGCCCTTTATTGCTTTTTTAATTACAAAAAATAATCCATATCTACTGTTAAACATTCAGGCTATGTAAAAGTACATAAAATAAAAATGAAAGTGCTCCTCACCACCTGCCTCCCAACCCACTCTTCACAGATAAACACCCTTAAGTTTAGAGTGTGTCTCTTCAAACCCTTTTCTACTTGTATAACCACACGCACACAGCCCTCATGTCCACAGACACAGACACAGTTTGTGCATGTGTGTGTTTTTTCCACTGAACAGTATGTTGTAACCACCTTCCCACGTCAGCATCTATGGCCTATTTCATTTCTTTCCGTCCTCCTAGTGTTCCACTGCATGGCTCTACATAACTAATTTAACCATTCACCTACTGAAGGATACTTGGGTTTTTCCAATTCTTCACTGTATTTCACTCAAAGCTGTAATAAGATACAGATTCTTATAAATGGCCCAAATGGTATGTGTTTTAAAATTGATGACTGATGCTCCAAAAGGCTGAACATCAATTCATATTCCTGCTAACAGTGCCCATTTCTATATTCAATATTTAATTTTGCCAACCTGGTAAGCAAAAAAGGGTACTATTTAAATTTGTATTTCTCATATTAAAAAGAGGTTAAGCACTTTTCATATTAAAAACCACATATATGATTTACAGTTAAAGCAACATCTGGAATTTGCTTTAAAATATTTGGAGGGTGGGAGAGTCAGGGAGGAAAGAATTTGAAACTGGATTCATGGGGTTCACTGCATGATTCTTACTTCATGTGTGTGCATACTTGAGTATTTCCATAATTGAAAGTTTAAAACACATATAGATACTCTCTTTGGGTGTTTAAAAAACTTTTCAGAAGATGAAAACTAAAATGTATCAGCAGGATTCTAGTGGCTCTAAAGTCAATCTCTTCTTTCTAGAAGATAAGCTAAAAAGGATATTATTTTGCTAACCAGAATTGAGGTTCTCTTTAAAGACAGCTGTCACGTCGTCCCGCACACCCAGCATGGGGGAGTCCAGCATGGCAAGAAGCTCCCCGACATTTGCTTGTTGGGCCATTCTCTCGCTCGAAGGCGCTGTGCTGGCTCCAGGACGTGTGCTACAGGTTCTGAAGGTTCTTCATTGGGGCCACTACCAAACTGAGAAAAAGGAAGATGAACAGTCACTAAATGGCCCCATTTTTCTCCATAAAAAAAGAAAATACCTGCAAGACAAACTAATGCACGTGTTCAATGCAATGGAAAGTTTGGCCAGAATTCTCTGATTCAAACAGTGAGTACATTTAGCTGATAAAAGAAGATAAAGTGTATGAATAATTCTTTGGCGAGTTTATGAAGAGGGTTTCTACAAAATATAACAATCAGAAAGAAACCTTAAAAACTGATACCAGTCACAGCAACTTAATGATAGGATCAAATCTAAGTTTTATTCCTACTTCTGATTCTACCTTGGGTTTTGGCTAAGACCACATTTATATTTCAAATTATTGATCTAAAAAGCAGACAGTCTTTTTTCAGCAAAAGAACTAAATACATACTATTTCCTTCTTGACAGTCTCATCAATGGCTAAGAGTTAGTATAGCTGGTTAGGTCACAAGTCTGTTAAGTCCAACATCTAGCATAAACTGGGGATCATTTCTCTGTTTTAGCATATACCTCTCATCTGAGACATCTAATTGCACACCCAAATACCACTGGCTACAGGGAGGTATCCATAGATGGGATCATCAGGGCAAATCTTCAAAAACTCACCCTTCAAAACCCAAGCTCTCTATGGTAGTAGAGCAGCTGCTTTATCTTGATATACAAAAAGCAGCTCATTCCCAAGTGTAACTATACACATTTACGATTTCTCCCCCACTTTGATCTCTGAGGCTATATTTGTTAAAACAAGTAACAACAGTTATCATTCATAAGCACTGTACACCTTTCACAAACATCATTGTATATACTCCTAATATGACCACCATGTAATTGGCACTTTTGTCCCCATTGTACAGGGAGCAGAATGGAGATCAAGCCATTTGTTCTGGGTCACAAAGCTAGCAAGAGGCAAAACCAGAGGAGAAAAACTGATATTGGAAGCTAGGTATGCCCGACTCCAAAGCCCCAAGCCCTTAAGTGTCACACTAAGCTAACCTGTGGTTTTGATCATCACAGCAAGTCTGTGATGTGATGTGATGTGGTGTGAGCAGGTATCATCCTTATTTTACACATGGGGATATGCATGCCCAAAAAGGATAACACTTCCTTTTCTTTCAGTAAGTGTAAGTAGCAGTTCTTAAGCTTCAATGTGCATCGAAACCACCTGGGATACTTGCTAGAAATGCAATACCTGGGCCCCTTCCAAAACTGTATTTTGGGCTCAGGAATCTATATTTTAATAAGCACTCCAGGTAATTCTTAAAGTGAGACACAAATTATTTTTGAGAAACACTATGATAAAGAAAAATCCAACTAAAGAGTTAAGCTGAGGCCGGATGTAGTGGCTGAGGCCAGGCATGGTGGCTCACGCTTGTAATCCCAGCATAATGGGAGGCCGAGGCAGGCAGATCACCTAAGGTCAAGAGTTCGAGACCAACCTGGCCAACATGGTGAAGCCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTGTGGTGGCGTGTGCCTGTAGTCCCACCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGACGGAGGTTGCAGTGAGTCAAGGTCATGCCACTGCACTCTAGCCTGGGCAACAAAGCAAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGAGAGATAAGCTCCTTCTGCAAGAATGCCAAATTTAAATTAGCCATGACCCCAAAAACTGCCAGGTATTAACTTGCTATCATCTATATTCTTATTTAATTACAATCTTGTGACATTCACTGATTTTGGCTCTTAGTAAGTTAGAAGTTCATTTATCAGAAAAATCAATTAAAATGTCTAAATGCCTTTTTGATACCATGATATAGGAAGTTGCTGACTCATATCTATAAAT
CTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACATTGGCCAACATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCGCCACACCTGGCCCTTTATTGCTTTTTTAATTACAAAAAATAATCCATATCTACTGTTAAACATTCAGGCTATGTAAAAGTACATAAAATAAAAATGAAAGTGCTCCTCACCACCTGCCTCCCAACCCACTCTTCACAGATAAACACCCTTAAGTTTAGAGTGTGTCTCTTCAAACCCTTTTCTACTTGTATAACCACACGCACACAGCCCTCATGTCCACAGACACAGACACAGTTTGTGCATGTGTGTGTTTTTTCCACTGAACAGTATGTTGTAACCACCTTCCCACGTCAGCATCTATGGCCTATTTCATTTCTTTCCGTCCTCCTAGTGTTCCACTGCATGGCTCTACATAACTAATTTAACCATTCACCTACTGAAGGATACTTGGGTTTTTCCAATTCTTCACTGTATTTCACTCAAAGCTGTAATAAGATACAGATTCTTATAAATGGCCCAAATGGTATGTGTTTTAAAATTGATGACTGATGCTCCAAAAGGCTGAACATCAATTCATATTCCTGCTAACAGTGCCCATTTCTATATTCAATATTTAATTTTGCCAACCTGGTAAGCAAAAAAGGGTACTATTTAAATTTGTATTTCTCATATTAAAAAGAGGTTAAGCACTTTTCATATTAAAAACCACATATATGATTTACAGTTAAAGCAACATCTGGAATTTGCTTTAAAATATTTGGAGGGTGGGAGAGTCAGGGAGGAAAGAATTTGAAACTGGATTCATGGGGTTCACTGCATGATTCTTACTTCATGTGTGTGCATACTTGAGTATTTCCATAATTGAAAGTTTAAAACACATATAGATACTCTCTTTGGGTGTTTAAAAAACTTTTCAGAAGATGAAAACTAAAATGTATCAGCAGGATTCTAGTGGCTCTAAAGTCAATCTCTTCTTTCTAGAAGATAAGCTAAAAAGGATATTATTTTGCTAACCAGAATTGAGGTTCTCTTTAAAGACAGCTGTCAACGTCGTCCCGCACACCCAGCATGGGGGAGTCCAGCATGGCAAGAAGCTCCCCGACATTTGCTTGTTGGGCCATTCTCTCGCTCGAAGGCGCTGTGCTGGCTCCAGGACGTGTGCTACAGGTTCTGAAGGTTCTTCATTGGGGCCACTACCAAACTGAGAAAAAGGAAGATGAACAGTCACTAAATGGCCCCATTTTTCTCCATAAAAAAAGAAAATACCTGCAAGACAAACTAATGCACGTGTTCAATGCAATGGAAAGTTTGGCCAGAATTCTCTGATTCAAACAGTGAGTACATTTAGCTGATAAAAGAAGATAAAGTGTATGAATAATTCTTTGGCGAGTTTATGAAGAGGGTTTCTACAAAATATAACAATCAGAAAGAAACCTTAAAAACTGATACCAGTCACAGCAACTTAATGATAGGATCAAATCTAAGTTTTATTCCTACTTCTGATTCTACCTTGGGTTTTGGCTAAGACCACATTTATATTTCAAATTATTGATCTAAAAAGCAGACAGTCTTTTTTCAGCAAAAGAACTAAATACATACTATTTCCTTCTTGACAGTCTCATCAATGGCTAAGAGTTAGTATAGCTGGTTAGGTCACAAGTCTGTTAAGTCCAACATCTAGCATAAACTGGGGATCATTTCTCTGTTTTAGCATATACCTCTCATCTGAGACATCTAATTGCACACCCAAATACCACTGGCTACAGGGAGGTATCCATAGATGGGATCATCAGGGCAAATCTTCAAAAACTCACCCTTCAAAACCCAAGCTCTCTATGGTAGTAGAGCAGCTGCTTTATCTTGATATACAAAAAGCAGCTCATTCCCAAGTGTAACTATACACATTTACGATTTCTCCCCCACTTTGATCTCTGAGGCTATATTTGTTAAAACAAGTAACAACAGTTATCATTCATAAGCACTGTACACCTTTCACAAACATCATTGTATATACTCCTAATATGACCACCATGTAATTGGCACTTTTGTCCCCATTGTACAGGGAGCAGAATGGAGATCAAGCCATTTGTTCTGGGTCACAAAGCTAGCAAGAGGCAAAACCAGAGGAGAAAAACTGATATTGGAAGCTAGGTATGCCCGACTCCAAAGCCCCAAGCCCTTAAGTGTCACACTAAGCTAACCTGTGGTTTTGATCATCACAGCAAGTCTGTGATGTGATGTGATGTGGTGTGAGCAGGTATCATCCTTATTTTACACATGGGGATATGCATGCCCAAAAAGGATAACACTTCCTTTTCTTTCAGTAAGTGTAAGTAGCAGTTCTTAAGCTTCAATGTGCATCGAAACCACCTGGGATACTTGCTAGAAATGCAATACCTGGGCCCCTTCCAAAACTGTATTTTGGGCTCAGGAATCTATATTTTAATAAGCACTCCAGGTAATTCTTAAAGTGAGACACAAATTATTTTTGAGAAACACTATGATAAAGAAAAATCCAACTAAAGAGTTAAGCTGAGGCCGGATGTAGTGGCTGAGGCCAGGCATGGTGGCTCACGCTTGTAATCCCAGCATAATGGGAGGCCGAGGCAGGCAGATCACCTAAGGTCAAGAGTTCGAGACCAACCTGGCCAACATGGTGAAGCCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTGTGGTGGCGTGTGCCTGTAGTCCCACCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGACGGAGGTTGCAGTGAGTCAAGGTCATGCCACTGCACTCTAGCCTGGGCAACAAAGCAAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGAGAGATAAGCTCCTTCTGCAAGAATGCCAAATTTAAATTAGCCATGACCCCAAAAACTGCCAGGTATTAACTTGCTATCATCTATATTCTTATTTAATTACAATCTTGTGACATTCACTGATTTTGGCTCTTAGTAAGTTAGAAGTTCATTTATCAGAAAAATCAATTAAAATGTCTAAATGCCTTTTTGATACCATGATATAGGAAGTTGCTGACTCATATCTATAAA
pathogenic
153,280
Determine if the mutation at chromosome 9, position 132928803 in gene TSC1 (TSC complex subunit 1) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Isolated_focal_cortical_dysplasia_type_II']
ACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACATTGGCCAACATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCGCCACACCTGGCCCTTTATTGCTTTTTTAATTACAAAAAATAATCCATATCTACTGTTAAACATTCAGGCTATGTAAAAGTACATAAAATAAAAATGAAAGTGCTCCTCACCACCTGCCTCCCAACCCACTCTTCACAGATAAACACCCTTAAGTTTAGAGTGTGTCTCTTCAAACCCTTTTCTACTTGTATAACCACACGCACACAGCCCTCATGTCCACAGACACAGACACAGTTTGTGCATGTGTGTGTTTTTTCCACTGAACAGTATGTTGTAACCACCTTCCCACGTCAGCATCTATGGCCTATTTCATTTCTTTCCGTCCTCCTAGTGTTCCACTGCATGGCTCTACATAACTAATTTAACCATTCACCTACTGAAGGATACTTGGGTTTTTCCAATTCTTCACTGTATTTCACTCAAAGCTGTAATAAGATACAGATTCTTATAAATGGCCCAAATGGTATGTGTTTTAAAATTGATGACTGATGCTCCAAAAGGCTGAACATCAATTCATATTCCTGCTAACAGTGCCCATTTCTATATTCAATATTTAATTTTGCCAACCTGGTAAGCAAAAAAGGGTACTATTTAAATTTGTATTTCTCATATTAAAAAGAGGTTAAGCACTTTTCATATTAAAAACCACATATATGATTTACAGTTAAAGCAACATCTGGAATTTGCTTTAAAATATTTGGAGGGTGGGAGAGTCAGGGAGGAAAGAATTTGAAACTGGATTCATGGGGTTCACTGCATGATTCTTACTTCATGTGTGTGCATACTTGAGTATTTCCATAATTGAAAGTTTAAAACACATATAGATACTCTCTTTGGGTGTTTAAAAAACTTTTCAGAAGATGAAAACTAAAATGTATCAGCAGGATTCTAGTGGCTCTAAAGTCAATCTCTTCTTTCTAGAAGATAAGCTAAAAAGGATATTATTTTGCTAACCAGAATTGAGGTTCTCTTTAAAGACAGCTGTCACGTCGTCCCGCACACCCAGCATGGGGGAGTCCAGCATGGCAAGAAGCTCCCCGACATTTGCTTGTTGGGCCATTCTCTCGCTCGAAGGCGCTGTGCTGGCTCCAGGACGTGTGCTACAGGTTCTGAAGGTTCTTCATTGGGGCCACTACCAAACTGAGAAAAAGGAAGATGAACAGTCACTAAATGGCCCCATTTTTCTCCATAAAAAAAGAAAATACCTGCAAGACAAACTAATGCACGTGTTCAATGCAATGGAAAGTTTGGCCAGAATTCTCTGATTCAAACAGTGAGTACATTTAGCTGATAAAAGAAGATAAAGTGTATGAATAATTCTTTGGCGAGTTTATGAAGAGGGTTTCTACAAAATATAACAATCAGAAAGAAACCTTAAAAACTGATACCAGTCACAGCAACTTAATGATAGGATCAAATCTAAGTTTTATTCCTACTTCTGATTCTACCTTGGGTTTTGGCTAAGACCACATTTATATTTCAAATTATTGATCTAAAAAGCAGACAGTCTTTTTTCAGCAAAAGAACTAAATACATACTATTTCCTTCTTGACAGTCTCATCAATGGCTAAGAGTTAGTATAGCTGGTTAGGTCACAAGTCTGTTAAGTCCAACATCTAGCATAAACTGGGGATCATTTCTCTGTTTTAGCATATACCTCTCATCTGAGACATCTAATTGCACACCCAAATACCACTGGCTACAGGGAGGTATCCATAGATGGGATCATCAGGGCAAATCTTCAAAAACTCACCCTTCAAAACCCAAGCTCTCTATGGTAGTAGAGCAGCTGCTTTATCTTGATATACAAAAAGCAGCTCATTCCCAAGTGTAACTATACACATTTACGATTTCTCCCCCACTTTGATCTCTGAGGCTATATTTGTTAAAACAAGTAACAACAGTTATCATTCATAAGCACTGTACACCTTTCACAAACATCATTGTATATACTCCTAATATGACCACCATGTAATTGGCACTTTTGTCCCCATTGTACAGGGAGCAGAATGGAGATCAAGCCATTTGTTCTGGGTCACAAAGCTAGCAAGAGGCAAAACCAGAGGAGAAAAACTGATATTGGAAGCTAGGTATGCCCGACTCCAAAGCCCCAAGCCCTTAAGTGTCACACTAAGCTAACCTGTGGTTTTGATCATCACAGCAAGTCTGTGATGTGATGTGATGTGGTGTGAGCAGGTATCATCCTTATTTTACACATGGGGATATGCATGCCCAAAAAGGATAACACTTCCTTTTCTTTCAGTAAGTGTAAGTAGCAGTTCTTAAGCTTCAATGTGCATCGAAACCACCTGGGATACTTGCTAGAAATGCAATACCTGGGCCCCTTCCAAAACTGTATTTTGGGCTCAGGAATCTATATTTTAATAAGCACTCCAGGTAATTCTTAAAGTGAGACACAAATTATTTTTGAGAAACACTATGATAAAGAAAAATCCAACTAAAGAGTTAAGCTGAGGCCGGATGTAGTGGCTGAGGCCAGGCATGGTGGCTCACGCTTGTAATCCCAGCATAATGGGAGGCCGAGGCAGGCAGATCACCTAAGGTCAAGAGTTCGAGACCAACCTGGCCAACATGGTGAAGCCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTGTGGTGGCGTGTGCCTGTAGTCCCACCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGACGGAGGTTGCAGTGAGTCAAGGTCATGCCACTGCACTCTAGCCTGGGCAACAAAGCAAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGAGAGATAAGCTCCTTCTGCAAGAATGCCAAATTTAAATTAGCCATGACCCCAAAAACTGCCAGGTATTAACTTGCTATCATCTATATTCTTATTTAATTACAATCTTGTGACATTCACTGATTTTGGCTCTTAGTAAGTTAGAAGTTCATTTATCAGAAAAATCAATTAAAATGTCTAAATGCCTTTTTGATACCATGATATAGGAAGTTGCTGACTCATATCTATAAATAAAAA
ACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTATAGGTGTCCACCACCACGCCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCGTGACCTCAGGCAATCCACCCGCCTCGGCCTCCTAAGGGGATTACAGGCGTGAGCCACCACACCCGGCCCAAACAAGATCTTTAACAGTCTCTGAAATATGTTTTATTTTGTAAACTTTTCAAGAATCATGGGTCCTACAAAGTAATTTTTATATGTAGTTATAAACTGGGAACAATGTCATCAGTGGCGCACAGAAATCAAAAGAATAAGCTCAGGACAAGTTGCACAGTGGCCGTGCACAGAAGCTGTTGTACTCATGAAGAACATATGAAATGCCTATGATATTTCAGCCATTACCTTGTCATGTGGCTCTTGCAAGGTGGTCAGGATGTGCAATGCCGGCTGAGAGCTGGTTTCCAGGTAATAATCCACCAAGGTGTTTACAAGCATAGGGCCACGGTCTAAATCAAGAAAAGGGCAATGGATGATACTTATTCCCCTTAACATCCTAAATTTACCTTACACAGCTTCCTGTCACAAAATCCAGAAAATGTTTCTTTATATGCTATTCTAAGTTTTGTGCAGCATTACAGTTCTGCCTTCTTAATTTAATAATAAGATATTCCAAGCTTATTTGCCTAAATATGCATAAAAACATATGAAGTCATTTTTATTGCCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTACTAGAGATGGGGTTTCACCACATTGGCCAACATGGTCTCAATCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCGCCACACCTGGCCCTTTATTGCTTTTTTAATTACAAAAAATAATCCATATCTACTGTTAAACATTCAGGCTATGTAAAAGTACATAAAATAAAAATGAAAGTGCTCCTCACCACCTGCCTCCCAACCCACTCTTCACAGATAAACACCCTTAAGTTTAGAGTGTGTCTCTTCAAACCCTTTTCTACTTGTATAACCACACGCACACAGCCCTCATGTCCACAGACACAGACACAGTTTGTGCATGTGTGTGTTTTTTCCACTGAACAGTATGTTGTAACCACCTTCCCACGTCAGCATCTATGGCCTATTTCATTTCTTTCCGTCCTCCTAGTGTTCCACTGCATGGCTCTACATAACTAATTTAACCATTCACCTACTGAAGGATACTTGGGTTTTTCCAATTCTTCACTGTATTTCACTCAAAGCTGTAATAAGATACAGATTCTTATAAATGGCCCAAATGGTATGTGTTTTAAAATTGATGACTGATGCTCCAAAAGGCTGAACATCAATTCATATTCCTGCTAACAGTGCCCATTTCTATATTCAATATTTAATTTTGCCAACCTGGTAAGCAAAAAAGGGTACTATTTAAATTTGTATTTCTCATATTAAAAAGAGGTTAAGCACTTTTCATATTAAAAACCACATATATGATTTACAGTTAAAGCAACATCTGGAATTTGCTTTAAAATATTTGGAGGGTGGGAGAGTCAGGGAGGAAAGAATTTGAAACTGGATTCATGGGGTTCACTGCATGATTCTTACTTCATGTGTGTGCATACTTGAGTATTTCCATAATTGAAAGTTTAAAACACATATAGATACTCTCTTTGGGTGTTTAAAAAACTTTTCAGAAGATGAAAACTAAAATGTATCAGCAGGATTCTAGTGGCTCTAAAGTCAATCTCTTCTTTCTAGAAGATAAGCTAAAAAGGATATTATTTTGCTAACCAGAATTGAGGTTCTCTTTAAAGACAGCTGTCACGTCCAAGAAGCTCCCCGACATTTGCTTGTTGGGCCATTCTCTCGCTCGAAGGCGCTGTGCTGGCTCCAGGACGTGTGCTACAGGTTCTGAAGGTTCTTCATTGGGGCCACTACCAAACTGAGAAAAAGGAAGATGAACAGTCACTAAATGGCCCCATTTTTCTCCATAAAAAAAGAAAATACCTGCAAGACAAACTAATGCACGTGTTCAATGCAATGGAAAGTTTGGCCAGAATTCTCTGATTCAAACAGTGAGTACATTTAGCTGATAAAAGAAGATAAAGTGTATGAATAATTCTTTGGCGAGTTTATGAAGAGGGTTTCTACAAAATATAACAATCAGAAAGAAACCTTAAAAACTGATACCAGTCACAGCAACTTAATGATAGGATCAAATCTAAGTTTTATTCCTACTTCTGATTCTACCTTGGGTTTTGGCTAAGACCACATTTATATTTCAAATTATTGATCTAAAAAGCAGACAGTCTTTTTTCAGCAAAAGAACTAAATACATACTATTTCCTTCTTGACAGTCTCATCAATGGCTAAGAGTTAGTATAGCTGGTTAGGTCACAAGTCTGTTAAGTCCAACATCTAGCATAAACTGGGGATCATTTCTCTGTTTTAGCATATACCTCTCATCTGAGACATCTAATTGCACACCCAAATACCACTGGCTACAGGGAGGTATCCATAGATGGGATCATCAGGGCAAATCTTCAAAAACTCACCCTTCAAAACCCAAGCTCTCTATGGTAGTAGAGCAGCTGCTTTATCTTGATATACAAAAAGCAGCTCATTCCCAAGTGTAACTATACACATTTACGATTTCTCCCCCACTTTGATCTCTGAGGCTATATTTGTTAAAACAAGTAACAACAGTTATCATTCATAAGCACTGTACACCTTTCACAAACATCATTGTATATACTCCTAATATGACCACCATGTAATTGGCACTTTTGTCCCCATTGTACAGGGAGCAGAATGGAGATCAAGCCATTTGTTCTGGGTCACAAAGCTAGCAAGAGGCAAAACCAGAGGAGAAAAACTGATATTGGAAGCTAGGTATGCCCGACTCCAAAGCCCCAAGCCCTTAAGTGTCACACTAAGCTAACCTGTGGTTTTGATCATCACAGCAAGTCTGTGATGTGATGTGATGTGGTGTGAGCAGGTATCATCCTTATTTTACACATGGGGATATGCATGCCCAAAAAGGATAACACTTCCTTTTCTTTCAGTAAGTGTAAGTAGCAGTTCTTAAGCTTCAATGTGCATCGAAACCACCTGGGATACTTGCTAGAAATGCAATACCTGGGCCCCTTCCAAAACTGTATTTTGGGCTCAGGAATCTATATTTTAATAAGCACTCCAGGTAATTCTTAAAGTGAGACACAAATTATTTTTGAGAAACACTATGATAAAGAAAAATCCAACTAAAGAGTTAAGCTGAGGCCGGATGTAGTGGCTGAGGCCAGGCATGGTGGCTCACGCTTGTAATCCCAGCATAATGGGAGGCCGAGGCAGGCAGATCACCTAAGGTCAAGAGTTCGAGACCAACCTGGCCAACATGGTGAAGCCCCGTCTCTACTAAAAATACAAAAATTAGCTGGTGTGGTGGCGTGTGCCTGTAGTCCCACCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGACGGAGGTTGCAGTGAGTCAAGGTCATGCCACTGCACTCTAGCCTGGGCAACAAAGCAAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGAGAGATAAGCTCCTTCTGCAAGAATGCCAAATTTAAATTAGCCATGACCCCAAAAACTGCCAGGTATTAACTTGCTATCATCTATATTCTTATTTAATTACAATCTTGTGACATTCACTGATTTTGGCTCTTAGTAAGTTAGAAGTTCATTTATCAGAAAAATCAATTAAAATGTCTAAATGCCTTTTTGATACCATGATATAGGAAGTTGCTGACTCATATCTATAAATAAAAANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
pathogenic
153,282
Is the variant located on chromosome 9 at position 132944529, gene TSC1 (TSC complex subunit 1), benign or pathogenic? If pathogenic, specify the disease(s) linked.
benign
AGTTTCATCTCACGAATGAAACCAGGCATGCACAGAAGGCATCATATTACACCACAACAGTAGCAGTATCAGTTTTTACTCTTAACCCAGTGAGGAAGAGGACAACTGAGTCACAGGACCTGAAGCACTCTAATTTTATGGAAACAAGAAGGCTGGTAGCCACCTGCTTTCTAACCAGGAATTTAGGAACGTACCAAGTGTTTATGACACCAGGAAATGCATGCAGCAGAGAAAGTTTACATCATCTGCCCTTCTAGGCACGTGATATAAGAGTGTTTTGGATAAGATATTAACTTTAGTAAGAGGATATTTTCCGTTTACATCTTCTATAAATACCCCTTAAGTTTACACCAGGTGGTTAGAGGAAGATTCTGCAGCTCCCTAGGGCAATAGCAAAGAATGTTTCACTGTTTCTGAGGAGCCTCATTTGCCTGATGCATGACTGTTAAAGGTGCATTTCCCTACACAACCCTAAATCAGTTTTCACATTTGCATATTCCAGATTTACTCAGGAATGTTCAATTTAAGAATCACAGGTGGTTGCTCGGTAAATCAAAGGCTCCCCAAAGATTAGGTTTTATAATGCTTCCTGAAATTTACAGCTCCACTTTGCCGGCCTGTTTGAATTCAGATGACTCCAAGTTGATCCCAAAATTATAAATCAAAGTATCTCAGAAGAGTATTATTCTATTTTAGCACTTTTATAGCTTACTCTATGCAACGTGAAGTGTTATTTGTATGCTTTCTATTTAAAAAAAAAAAAAAGCCAGCAAGGATTTTAGCAGGACTTCTTTCTTCAGTAAACTCATCAGTTTTATTAAACTATCAAATACTTTTTAGCCTAATTTAGACTAACAAGTTCACATGCACAACACTGCCATCCCAAACAAAAGCTAAGGCGGATAAGCCAAGTGCATCCCCCCACTTCAACATTAAACAGACACACGTGCATAAACCTTGGCTAAATGATAAATTTTAATCACTTACAGGCCAGCTTTGATCAAATAACAGATAAATTTAAGAGTCATATCTTTGGAGTCAGTCAGATCCCAGCAGTTCCAGTCCTGGCTCAGATACAATTGGGGTGTGAACTTAGGCAAAGTACCCTGCTCTCTCCGGGCCTCAGTTTCTTCATTTGAGAAGATTGGAGGTGTTAACAGTGGCTGCCTCTTCTCTTTGTCGTGAGGACCAAAGGAGATAATGACTGCCAAGCACTTTCACAGTGCCTGGCACACAGAGAGCACTCCATTAACGTTAGCTGTTGTTCTTAGGAGGACCGCGTCCCCTCCCAAGTCCTCACCACACATCCAAAACACACAAAGCAAAACTCTTTAACAGGAAACACAAAGAAAGAGCTTTAATTCTACAAGGTCCCTCCGATTGCAGGCTCTTCATCCTCCAGTTCCTCAAATGAATGAATGAACGCCTAGGAGGGGCTCTGCAAATAGCTGTCTCTTAGGAATCCCCTTTGCCCACTTTAAGGTAACTGTCTTTCACCACCAATTAAACACCCACAAGTACACCCAGAGCGAGTCATGCAAATTTCAGCGGAGACACCGAATCCAGGCGAGTCCTTGATCCCCACAGGCGACCTCCATTCATTCTCCACGCCCCTATACCCCGACCCCTCTCTTTAAGTTCTGGGACCAGCCCCACCCTCGCGACCCTTCCCCTCCCGCCAAGCGTCTCTACCCTGCCCTCCGCACCTAGCGTGAACCTGTCACCCCACCAAGTGAGGGACTGACGAAGGGGCCCACCTCGCCCCTGCCCGAGGGACCGAGGCCCAGGGTGCAGCCGTCCCCTCGGGGGCCAAGGAGGGGCGAAGTGCTCCGTCCGGCTCGCCTCTCCTCCCCAGGGACCCGCCAGTCCCGGCCGGGCCAGCCGGAGATAGCGTGTAATAAGAGGGAGGGGAGAGCTCTCCGAACCCCCCTTCCCCGGGATCCCTACCAAGCAAGTGAGTCTCTTGCTCCAGCCCCTCCGAGCCTCCCCGGCTGGAGTCATGGTGCCGGGGCTGCCCCAGGAAGCCCCCATAAAAAGGAGGGGGAGACACCCCCATACTCACCCACCGTCTCCTCCCCCTCAGCTGTTTACCTCACAGTCCCTCCAGCCTACAGGGCGCCGCCATCTTGGACGTACAGCACCTCCCCCGTCGTGAAAGGGCCAAGGCCGACGGCGGCCTCCGCCACGAAAAAGAGTCCCCCTCCGGACCTCCCCTCCTTCTCGAAAGGAAGGATAGACGGCCGCGCTCGGCAGCCCCGCCGGAAGGAAGAGGCTCTTCCACTCATAACTGACGATGTGGGTTGGACGAGAAAAAAAGTAAGGAGGGTTTTTATGGAGGGGGGCGGGGCCGGGCGGAAGGATCCGAAAGGAGGCTGCGAAGAGATCTTGTGACTCCGCGAAGGAGGCAAAAAGAAGGGCCGGCGCGGCGGGAGGAGCCACGCGAGAGCCCGAGGGGGCGGGGCGGGCGGTCACGTGACTGGCGGGCGGGGGGACGCGGCGGAGAGGCGTAAACAAGCTGGCGGCGCCTGGGTGTGGTTGGAGCGCCCTGCCCCTGCCCCCCGAGTCGTTTCTGCCCTTCGCTTGCGTGGCGCCCTCCGAGGGTCTCTCTGTGGGCGGCCTCAGAGCAGCGATCCTGTTTCCCAAGGAGCTGCTGGGGCCCGCGTGGGTGAAGGGCCTGCTTGGGAGCTTTGGAGTTGCAGCTCACCTGGGAAGGGGCGGAAAGCTGCGGGCCAGGGCAGCCCTCCTTCCTGGGCTAAACATTTTCAGAAGCCCGCCTCCGGGATTGCGGGGGACCCCCCTGGCTTCTGCCTTCAAGTAGCTCACACTTCACACCTACTCATGACATCTAGGGGAAACCAGCCCTAATAGGAGACAGCTTGAAAATCAGAACGCCTTATTCCGTTTCCTGCTGAAACAAGGCTTTAAGTCCTCCAAGCCTCAGTTTCTTCCTCTGTGAAATGGGCATAATGACATCTGTGACGTGAAGAATCAAGGAGATGAAGTATGGACAGCGTTTAGCCCAGAGTCCTGCGCCTAGTAAATGCTCACTCACTAGATAGGTGGCCTTTATTGCGAGGCTGAGTATGATGGGCTCCATCCAGCACGAACACAAAGCCCTGTGAGAGGAGGCAGAGTGAGATGAAGTCGAACTGTGGGATATGAAAGGCATTTTGAAGGAGTAGGCATCAGGTTGGGTTTTAAAGGAAATGTAGGTTTTGTGAAATACTAGGTCGGTGCAAAAGTCATCACGGTTTTTACCATTAAAACCGCGATGACTTTTGCATCAACCTAATAGAACCAGGCGAGGCGGCTCGGGAGAGAAGGCCATTCCAGGCAGAGGGAACCAAAGGAGCAAGAGCCTAGGGGCAAAAAAGTGTTGGGTGAGTTATGGGAATAACAGGTTTTGTCATGGGAACCAATTGGGTCACAGTGCAAGGCAGCCATGGTTAAGGGGGGCCAGGTGTGTGAGTAGCCAGCACCGTGGGTGCCTTCAGAATTCTGAAAAGGCCCTGGATGGTATCGGGTAGAGCCGCTGCTAGTCAGTATAGGGCCTTGGTGAGAATTAGAAAAATGGCACCCCTGGGCTGTATTTTGGCCCCTATCCACCAGCCCCAAACCCTCCTGGGCCCTTGAGCAGTGAACAACCTTTATAACCATACGTCTAGAGCCACGAAGGCTTAGGAGGGAGGTGAAAATTGAACTGATGATTCCTCTGTTCTAACACAGTCGCTGGGGGGAAGCTAAGAGTTCTAGATTCAAACAGACCAGAGTTTGAATGTAGGTTTCAGCCATCATGTTCTAACTGGATGAGCCTTAGTCTCCTCACCTGCAACATAGGGCTAATAATAATGCTAGTTCATGGGGATTTGGGGTGAAGTCAGTGAGTCATTAAGCTCTAAGTGGCACAGAGCCTACTCCAGTTAATGTTATTTTTGATAACTGTTAAGTGCCAGCTGTCAGCATCCATCACTTCCAGAAACGGGTCCACCAAACACTAAATTCTTCTGTGTCACCACCCAAGCATAGTCTGCATGGGGTCCAGAGATGGAAAGGTCGAGGGAAACGGGGAAGGGTCTGGGTTCTCTCAGTTCCACCA
AGTTTCATCTCACGAATGAAACCAGGCATGCACAGAAGGCATCATATTACACCACAACAGTAGCAGTATCAGTTTTTACTCTTAACCCAGTGAGGAAGAGGACAACTGAGTCACAGGACCTGAAGCACTCTAATTTTATGGAAACAAGAAGGCTGGTAGCCACCTGCTTTCTAACCAGGAATTTAGGAACGTACCAAGTGTTTATGACACCAGGAAATGCATGCAGCAGAGAAAGTTTACATCATCTGCCCTTCTAGGCACGTGATATAAGAGTGTTTTGGATAAGATATTAACTTTAGTAAGAGGATATTTTCCGTTTACATCTTCTATAAATACCCCTTAAGTTTACACCAGGTGGTTAGAGGAAGATTCTGCAGCTCCCTAGGGCAATAGCAAAGAATGTTTCACTGTTTCTGAGGAGCCTCATTTGCCTGATGCATGACTGTTAAAGGTGCATTTCCCTACACAACCCTAAATCAGTTTTCACATTTGCATATTCCAGATTTACTCAGGAATGTTCAATTTAAGAATCACAGGTGGTTGCTCGGTAAATCAAAGGCTCCCCAAAGATTAGGTTTTATAATGCTTCCTGAAATTTACAGCTCCACTTTGCCGGCCTGTTTGAATTCAGATGACTCCAAGTTGATCCCAAAATTATAAATCAAAGTATCTCAGAAGAGTATTATTCTATTTTAGCACTTTTATAGCTTACTCTATGCAACGTGAAGTGTTATTTGTATGCTTTCTATTTAAAAAAAAAAAAAAGCCAGCAAGGATTTTAGCAGGACTTCTTTCTTCAGTAAACTCATCAGTTTTATTAAACTATCAAATACTTTTTAGCCTAATTTAGACTAACAAGTTCACATGCACAACACTGCCATCCCAAACAAAAGCTAAGGCGGATAAGCCAAGTGCATCCCCCCACTTCAACATTAAACAGACACACGTGCATAAACCTTGGCTAAATGATAAATTTTAATCACTTACAGGCCAGCTTTGATCAAATAACAGATAAATTTAAGAGTCATATCTTTGGAGTCAGTCAGATCCCAGCAGTTCCAGTCCTGGCTCAGATACAATTGGGGTGTGAACTTAGGCAAAGTACCCTGCTCTCTCCGGGCCTCAGTTTCTTCATTTGAGAAGATTGGAGGTGTTAACAGTGGCTGCCTCTTCTCTTTGTCGTGAGGACCAAAGGAGATAATGACTGCCAAGCACTTTCACAGTGCCTGGCACACAGAGAGCACTCCATTAACGTTAGCTGTTGTTCTTAGGAGGACCGCGTCCCCTCCCAAGTCCTCACCACACATCCAAAACACACAAAGCAAAACTCTTTAACAGGAAACACAAAGAAAGAGCTTTAATTCTACAAGGTCCCTCCGATTGCAGGCTCTTCATCCTCCAGTTCCTCAAATGAATGAATGAACGCCTAGGAGGGGCTCTGCAAATAGCTGTCTCTTAGGAATCCCCTTTGCCCACTTTAAGGTAACTGTCTTTCACCACCAATTAAACACCCACAAGTACACCCAGAGCGAGTCATGCAAATTTCAGCGGAGACACCGAATCCAGGCGAGTCCTTGATCCCCACAGGCGACCTCCATTCATTCTCCACGCCCCTATACCCCGACCCCTCTCTTTAAGTTCTGGGACCAGCCCCACCCTCGCGACCCTTCCCCTCCCGCCAAGCGTCTCTACCCTGCCCTCCGCACCTAGCGTGAACCTGTCACCCCACCAAGTGAGGGACTGACGAAGGGGCCCACCTCGCCCCTGCCCGAGGGACCGAGGCCCAGGGTGCAGCCGTCCCCTCGGGGGCCAAGGAGGGGCGAAGTGCTCCGTCCGGCTCGCCTCTCCTCCCCAGGGACCCGCCAGTCCCGGCCGGGCCAGCCGGAGATAGCGTGTAATAAGAGGGAGGGGAGAGCTCTCCGAACCCCCCTTCCCCGGGATCCCTACCAAGCAAGTGAGTCTCTTGCTCCAGCCCCTCCGAGCCTCCCCGGCTGGAGTCATGGTGCCGGGGCTGCCCCAGGAAGCCCCCATAAAAAGGAGGGGGAGACACCCCCCATACTCACCCACCGTCTCCTCCCCCTCAGCTGTTTACCTCACAGTCCCTCCAGCCTACAGGGCGCCGCCATCTTGGACGTACAGCACCTCCCCCGTCGTGAAAGGGCCAAGGCCGACGGCGGCCTCCGCCACGAAAAAGAGTCCCCCTCCGGACCTCCCCTCCTTCTCGAAAGGAAGGATAGACGGCCGCGCTCGGCAGCCCCGCCGGAAGGAAGAGGCTCTTCCACTCATAACTGACGATGTGGGTTGGACGAGAAAAAAAGTAAGGAGGGTTTTTATGGAGGGGGGCGGGGCCGGGCGGAAGGATCCGAAAGGAGGCTGCGAAGAGATCTTGTGACTCCGCGAAGGAGGCAAAAAGAAGGGCCGGCGCGGCGGGAGGAGCCACGCGAGAGCCCGAGGGGGCGGGGCGGGCGGTCACGTGACTGGCGGGCGGGGGGACGCGGCGGAGAGGCGTAAACAAGCTGGCGGCGCCTGGGTGTGGTTGGAGCGCCCTGCCCCTGCCCCCCGAGTCGTTTCTGCCCTTCGCTTGCGTGGCGCCCTCCGAGGGTCTCTCTGTGGGCGGCCTCAGAGCAGCGATCCTGTTTCCCAAGGAGCTGCTGGGGCCCGCGTGGGTGAAGGGCCTGCTTGGGAGCTTTGGAGTTGCAGCTCACCTGGGAAGGGGCGGAAAGCTGCGGGCCAGGGCAGCCCTCCTTCCTGGGCTAAACATTTTCAGAAGCCCGCCTCCGGGATTGCGGGGGACCCCCCTGGCTTCTGCCTTCAAGTAGCTCACACTTCACACCTACTCATGACATCTAGGGGAAACCAGCCCTAATAGGAGACAGCTTGAAAATCAGAACGCCTTATTCCGTTTCCTGCTGAAACAAGGCTTTAAGTCCTCCAAGCCTCAGTTTCTTCCTCTGTGAAATGGGCATAATGACATCTGTGACGTGAAGAATCAAGGAGATGAAGTATGGACAGCGTTTAGCCCAGAGTCCTGCGCCTAGTAAATGCTCACTCACTAGATAGGTGGCCTTTATTGCGAGGCTGAGTATGATGGGCTCCATCCAGCACGAACACAAAGCCCTGTGAGAGGAGGCAGAGTGAGATGAAGTCGAACTGTGGGATATGAAAGGCATTTTGAAGGAGTAGGCATCAGGTTGGGTTTTAAAGGAAATGTAGGTTTTGTGAAATACTAGGTCGGTGCAAAAGTCATCACGGTTTTTACCATTAAAACCGCGATGACTTTTGCATCAACCTAATAGAACCAGGCGAGGCGGCTCGGGAGAGAAGGCCATTCCAGGCAGAGGGAACCAAAGGAGCAAGAGCCTAGGGGCAAAAAAGTGTTGGGTGAGTTATGGGAATAACAGGTTTTGTCATGGGAACCAATTGGGTCACAGTGCAAGGCAGCCATGGTTAAGGGGGGCCAGGTGTGTGAGTAGCCAGCACCGTGGGTGCCTTCAGAATTCTGAAAAGGCCCTGGATGGTATCGGGTAGAGCCGCTGCTAGTCAGTATAGGGCCTTGGTGAGAATTAGAAAAATGGCACCCCTGGGCTGTATTTTGGCCCCTATCCACCAGCCCCAAACCCTCCTGGGCCCTTGAGCAGTGAACAACCTTTATAACCATACGTCTAGAGCCACGAAGGCTTAGGAGGGAGGTGAAAATTGAACTGATGATTCCTCTGTTCTAACACAGTCGCTGGGGGGAAGCTAAGAGTTCTAGATTCAAACAGACCAGAGTTTGAATGTAGGTTTCAGCCATCATGTTCTAACTGGATGAGCCTTAGTCTCCTCACCTGCAACATAGGGCTAATAATAATGCTAGTTCATGGGGATTTGGGGTGAAGTCAGTGAGTCATTAAGCTCTAAGTGGCACAGAGCCTACTCCAGTTAATGTTATTTTTGATAACTGTTAAGTGCCAGCTGTCAGCATCCATCACTTCCAGAAACGGGTCCACCAAACACTAAATTCTTCTGTGTCACCACCCAAGCATAGTCTGCATGGGGTCCAGAGATGGAAAGGTCGAGGGAAACGGGGAAGGGTCTGGGTTCTCTCAGTTCCACC
benign
153,302
Variant on chromosome 9, at position 133071270, affecting CEL (carboxyl ester lipase): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Maturity-onset_diabetes_of_the_young_type_8']
ACCGAGATTGCCCTAGCCCAGCACAGAGCCAATGCCAAGTGAGGATCTGGGCAGCGGGTGGCTCCTGGGGGCCTTCCTGGGGTGCTGCACCTTCCAGCCGAGGCCTCGCTGTGGGTGGCTCTCAGGTGTCTGGGTTGTCTGGGAAAGTGGTGCTTGAGTCCCCACCTGTGCCTGCCTGATCCACTTTGCTGAGGCCTGGCAAGACTTGAGGGCCTCTTTTTACCTCCCAGCCTACAGGGCTTTACAAACCCTATGATCCTCTGCCCTGCTCAGCCCTGCACCCCATGGTCCTTCCCACTGGAGAGTTCTTGAGCTACCTTCCATCCCCCATGCTGTGTGCACTGAGAGAACACTGGACAATAGTTTCTATCCACTGACTCTTATGGGCCTCAACTTTGCCCATAATTTCAGCCCACCACCACATTAAAAATCTTCATGTAATAATAGCCAATTATAATAAAAAATAAGGCCAGACACAGTAGCTCATGCCTGTAATCCCAGCACATTGGGAGGTCAAGGTGGGAGGATCACTTGAGGTCAGGAGTCTGAGACTAGTCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTATCCAGGCATGGTGGTGCATGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGCAGAATTGATTGACCCAGGGAGGTGGAGGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCAGGGGCAACAGAGTGAGACTGTGTCTCGAATAAATAAGTAAATAAATAATAAAAATAAAAAATAAGTTAGGAATACGAAAAAGATAGGAAGATAAAAGTATACCTAGAAGTCTAGGATGAAAGCTTTGCAGCAACTAAGCAGTACATTTAGCTGTGAGCCTCCTTTCAGTCAAGGCAAAAAGGGAAACAGTTGAGGGCCTATACCTTGTCCAATCTAATTGAAGAATGCACATTCACTTGGAGAGCAAAATATTTCTTGATACTGAATTCTAGAAGGAAGGTGCCTCACAATGTTTTGTGGAGGTGAAGTATAAATTCAGCTGAAATTGTGGAACCCATGAATCCATGAATTTGGTTCTCAGCTTTCCCTTCCCTGGGTGTAAGAAGCCCCATCTCTTCATGTGAATTCCCCAGACACTTCCCTGCCCACTGCCCGGGACCTCCCTCCAAGTCCGGTCTCTGGGCTGATCGGTCCCCAGTGAGCACCCTGCCTACTTGGGTGGTCTCTCCCCTCCAGGAGTGCCAAGACCTACGCCTACCTGTTTTCCCATCCCTCTCGGATGCCCGTCTACCCCAAATGGGTGGGGGCCGACCATGCAGATGACATTCAGTACGTTTTCGGGAAGCCCTTCGCCACCCCCACGGGCTACCGGCCCCAAGACAGGACAGTCTCTAAGGCCATGATCGCCTACTGGACCAACTTTGCCAAAACAGGGTAAGACGTGGGTTGAGTGCAGGGCGGAGGGCCACAGCCGAGAAGGGCCTCCCACCACGAGGCCTTGTTCCCTCATTTGCCAGTGGAGGGACTTTGGGCAAGTCACTTAACCTCCCCCTGCATCGGAATCCATGTGTGTTTGAGGATGAGAGTTACTGGCAGAGCCCCAAGCCCATGCACGTGCACAGCCAGTGCCCAGTATGCAGTGAGGGGCATGGTGCCCAGGGCCAGCTCAGAGGGCGGGGATGGCTCAGGCGTGCAGGTGGAGAGCAGGGCTTCAGCCCCCTGGGAGTCCCCAGCCCCTGCACAGCCTCTTCTCACTCTGCAGGGACCCCAACATGGGCGACTCGGCTGTGCCCACACACTGGGAACCCTACACTACGGAAAACAGCGGCTACCTGGAGATCACCAAGAAGATGGGCAGCAGCTCCATGAAGCGGAGCCTGAGAACCAACTTCCTGCGCTACTGGACCCTCACCTATCTGGCGCTGCCCACAGTGACCGACCAGGAGGCCACCCCTGTGCCCCCCACAGGGGACTCCGAGGCCACTCCCGTGCCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGACCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCTGTGCCCCCCACGGGTGACTCTGAGGCTGCCCCTGTGCCCCCCACAGATGACTCCAAGGAAGCTCAGATGCCTGCAGTCATTAGGTTTTAGCGTCCCATGAGCCTTGGTATCAAGAGGCCACAAGAGTGGGACCCCAGGGGCTCCCCTCCCATCTTGAGCTCTTCCTGAATAAAGCCTCATACCCCTGTCGGTGTCTTTCTTTGCTCCCAAGGCTAAGCTGCAGGATCTGCCTGGCAATTGCAGGCTTGCTTTTTCATGCCCAGCTCATCTTATCTTTGGCCAGAGGCGGCCTCAGGTTGACCTCTGTAGTCCTTTGACTCAACCCTTGGGTCTTGGGCACCTTCCTTACTTGCAGCCACCATGATGGTGCAGGCTCCAGCCCCTCCCTGGCATTTCCTGCCATGGACCCGGCCCAACCATCTCCGCAGGGTGCACTCCTTCGTCGGTGTGAATATGGTGTTTAGAGACCCCAATCTGGTCACCAGGGGTGGTGCTTGCTCCTGGGATTTCGTTACTGCTAGGGCTTTGGAAGAGACAGAGCCAGGAAATAAGTATTTTTTTTTAACCAGTAAAAAAAAAAAAAAGTATGAGGCCGGGCACAGTGGCTCACACCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGTCAGGAGTTGGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAAATTAGCCAGGTGTGGTAGTGCGCACCTGAGGTCCCAGCTGAGGCAGGAGAATCACTTGAGCTCGGGAGGTAGAGGCTGCAGTGAGCCGAGATCGCACCACTGCACTTGAGCCTGGGCAACAGAGCAAGGCACCATCTCAAATAATAATAAAAGTATGAATTCATACAGGTATTTCCCAGTTGTAAGACTGTCAGGTTTTACTTCTCTCATTTTACACTTGTTTCTTTCTCCGCCTATGCTGAAAGTCTGGGTTCGACAGCACCAACATAATTGTTTATGTTCTTTTTCCTATAACATACATATGCTAGTTTTGAAATATAAGATATAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAAAATACAAAAAAAGTTAGCCAGGCACGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGGGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGGCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAGAAATATAAGATATTGCAATAAATCATATGAGTTACATTTAAAGTACATGAATTTAAATAAATTATAAATTATATAAAGTAATATATGATAAAATATTAAGACTACTAAGGATCATTTAAGATCGTTTTGCTCATTCTCCTTAAATTATCCCACAGAATAAACAATTGTGCCTCTAGGTCCCTTAAGTAACTCTGTGGTTACTTAATTGGTAGATTAAGCCATCTACCGATACACAGTTAGAAGTTTGGGGTTTTTTTAATCATGCAGATGTAGACACTGACCAAAGACTTCTTG
ACCGAGATTGCCCTAGCCCAGCACAGAGCCAATGCCAAGTGAGGATCTGGGCAGCGGGTGGCTCCTGGGGGCCTTCCTGGGGTGCTGCACCTTCCAGCCGAGGCCTCGCTGTGGGTGGCTCTCAGGTGTCTGGGTTGTCTGGGAAAGTGGTGCTTGAGTCCCCACCTGTGCCTGCCTGATCCACTTTGCTGAGGCCTGGCAAGACTTGAGGGCCTCTTTTTACCTCCCAGCCTACAGGGCTTTACAAACCCTATGATCCTCTGCCCTGCTCAGCCCTGCACCCCATGGTCCTTCCCACTGGAGAGTTCTTGAGCTACCTTCCATCCCCCATGCTGTGTGCACTGAGAGAACACTGGACAATAGTTTCTATCCACTGACTCTTATGGGCCTCAACTTTGCCCATAATTTCAGCCCACCACCACATTAAAAATCTTCATGTAATAATAGCCAATTATAATAAAAAATAAGGCCAGACACAGTAGCTCATGCCTGTAATCCCAGCACATTGGGAGGTCAAGGTGGGAGGATCACTTGAGGTCAGGAGTCTGAGACTAGTCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTATCCAGGCATGGTGGTGCATGCCTATAATCCTAGCTACTCAGGAGGCTGAGGTAGCAGAATTGATTGACCCAGGGAGGTGGAGGTTGCAGTGAGCCGAGATTACGCCACTGCACTCCAGCAGGGGCAACAGAGTGAGACTGTGTCTCGAATAAATAAGTAAATAAATAATAAAAATAAAAAATAAGTTAGGAATACGAAAAAGATAGGAAGATAAAAGTATACCTAGAAGTCTAGGATGAAAGCTTTGCAGCAACTAAGCAGTACATTTAGCTGTGAGCCTCCTTTCAGTCAAGGCAAAAAGGGAAACAGTTGAGGGCCTATACCTTGTCCAATCTAATTGAAGAATGCACATTCACTTGGAGAGCAAAATATTTCTTGATACTGAATTCTAGAAGGAAGGTGCCTCACAATGTTTTGTGGAGGTGAAGTATAAATTCAGCTGAAATTGTGGAACCCATGAATCCATGAATTTGGTTCTCAGCTTTCCCTTCCCTGGGTGTAAGAAGCCCCATCTCTTCATGTGAATTCCCCAGACACTTCCCTGCCCACTGCCCGGGACCTCCCTCCAAGTCCGGTCTCTGGGCTGATCGGTCCCCAGTGAGCACCCTGCCTACTTGGGTGGTCTCTCCCCTCCAGGAGTGCCAAGACCTACGCCTACCTGTTTTCCCATCCCTCTCGGATGCCCGTCTACCCCAAATGGGTGGGGGCCGACCATGCAGATGACATTCAGTACGTTTTCGGGAAGCCCTTCGCCACCCCCACGGGCTACCGGCCCCAAGACAGGACAGTCTCTAAGGCCATGATCGCCTACTGGACCAACTTTGCCAAAACAGGGTAAGACGTGGGTTGAGTGCAGGGCGGAGGGCCACAGCCGAGAAGGGCCTCCCACCACGAGGCCTTGTTCCCTCATTTGCCAGTGGAGGGACTTTGGGCAAGTCACTTAACCTCCCCCTGCATCGGAATCCATGTGTGTTTGAGGATGAGAGTTACTGGCAGAGCCCCAAGCCCATGCACGTGCACAGCCAGTGCCCAGTATGCAGTGAGGGGCATGGTGCCCAGGGCCAGCTCAGAGGGCGGGGATGGCTCAGGCGTGCAGGTGGAGAGCAGGGCTTCAGCCCCCTGGGAGTCCCCAGCCCCTGCACAGCCTCTTCTCACTCTGCAGGGACCCCAACATGGGCGACTCGGCTGTGCCCACACACTGGGAACCCTACACTACGGAAAACAGCGGCTACCTGGAGATCACCAAGAAGATGGGCAGCAGCTCCATGAAGCGGAGCCTGAGAACCAACTTCCTGCGCTACTGGACCCTCACCTATCTGGCGCTGCCCACAGTGACCGACCAGGAGGCCACCCCTGTGCCCCCCACAGGGGACTCCGAGGCCACTCCCGTGCCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGACCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCTGTGCCCCCCACGGGTGACTCTGAGGCTGCCCCTGTGCCCCCCACAGATGACTCCAAGGAAGCTCAGATGCCTGCAGTCATTAGGTTTTAGCGTCCCATGAGCCTTGGTATCAAGAGGCCACAAGAGTGGGACCCCAGGGGCTCCCCTCCCATCTTGAGCTCTTCCTGAATAAAGCCTCATACCCCTGTCGGTGTCTTTCTTTGCTCCCAAGGCTAAGCTGCAGGATCTGCCTGGCAATTGCAGGCTTGCTTTTTCATGCCCAGCTCATCTTATCTTTGGCCAGAGGCGGCCTCAGGTTGACCTCTGTAGTCCTTTGACTCAACCCTTGGGTCTTGGGCACCTTCCTTACTTGCAGCCACCATGATGGTGCAGGCTCCAGCCCCTCCCTGGCATTTCCTGCCATGGACCCGGCCCAACCATCTCCGCAGGGTGCACTCCTTCGTCGGTGTGAATATGGTGTTTAGAGACCCCAATCTGGTCACCAGGGGTGGTGCTTGCTCCTGGGATTTCGTTACTGCTAGGGCTTTGGAAGAGACAGAGCCAGGAAATAAGTATTTTTTTTTAACCAGTAAAAAAAAAAAAAAGTATGAGGCCGGGCACAGTGGCTCACACCTGTAGTCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGTCAGGAGTTGGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAAATTAGCCAGGTGTGGTAGTGCGCACCTGAGGTCCCAGCTGAGGCAGGAGAATCACTTGAGCTCGGGAGGTAGAGGCTGCAGTGAGCCGAGATCGCACCACTGCACTTGAGCCTGGGCAACAGAGCAAGGCACCATCTCAAATAATAATAAAAGTATGAATTCATACAGGTATTTCCCAGTTGTAAGACTGTCAGGTTTTACTTCTCTCATTTTACACTTGTTTCTTTCTCCGCCTATGCTGAAAGTCTGGGTTCGACAGCACCAACATAATTGTTTATGTTCTTTTTCCTATAACATACATATGCTAGTTTTGAAATATAAGATATAGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCTACTAAAAAAATACAAAAAAAGTTAGCCAGGCACGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGGGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGGCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAGAAATATAAGATATTGCAATAAATCATATGAGTTACATTTAAAGTACATGAATTTAAATAAATTATAAATTATATAAAGTAATATATGATAAAATATTAAGACTACTAAGGATCATTTAAGATCGTTTTGCTCATTCTCCTTAAATTATCCCACAGAATAAACAATTGTGCCTCTAGGTCCCTTAAGTAACTCTGTGGTTACTTAATTGGTAGATTAAGCCATCTACCGATACACAGTTAGAAGTTTGGGGTTTTTTTAATCATGCAGATGTAGACACTGACCAAAGACTTCTTGN
pathogenic
153,370
Variant on chromosome 9, at position 133351945, affecting SURF1 (SURF1 cytochrome c oxidase assembly factor): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Inborn_genetic_diseases', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
AGAGTGTTTTTCCAGCTACTCAGCTGCTTAAGCTGGCCCACAAGTACAGACCAGAGACAAAGCAAGAGAAGAAGCAGAGACTGTTGGCCCGGGCCGAGAAGAAGGCTGCTGGCAAAGGGGACGTCCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATC
AGAGTGTTTTTCCAGCTACTCAGCTGCTTAAGCTGGCCCACAAGTACAGACCAGAGACAAAGCAAGAGAAGAAGCAGAGACTGTTGGCCCGGGCCGAGAAGAAGGCTGCTGGCAAAGGGGACGTCCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAAT
pathogenic
153,397
Variant at chromosome 9, position 133351945, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['Leigh_syndrome']
AGAGTGTTTTTCCAGCTACTCAGCTGCTTAAGCTGGCCCACAAGTACAGACCAGAGACAAAGCAAGAGAAGAAGCAGAGACTGTTGGCCCGGGCCGAGAAGAAGGCTGCTGGCAAAGGGGACGTCCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATC
AGAGTGTTTTTCCAGCTACTCAGCTGCTTAAGCTGGCCCACAAGTACAGACCAGAGACAAAGCAAGAGAAGAAGCAGAGACTGTTGGCCCGGGCCGAGAAGAAGGCTGCTGGCAAAGGGGACGTCCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCN
pathogenic
153,398
The mutation impacting SURF1 (SURF1 cytochrome c oxidase assembly factor) on chromosome 9 at position 133351969: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Abnormal_pyramidal_sign', 'Cerebellar_ataxia', 'Charcot-Marie-Tooth_disease_type_4K', 'Dysarthria', 'Inborn_genetic_diseases', 'Leigh_syndrome', 'Leigh_syndrome_due_to_mitochondrial_complex_IV_deficiency', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1', 'Muscle_weakness', 'SURF1-related_disorder']
TGCTTAAGCTGGCCCACAAGTACAGACCAGAGACAAAGCAAGAGAAGAAGCAGAGACTGTTGGCCCGGGCCGAGAAGAAGGCTGCTGGCAAAGGGGACGTCCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAG
TGCTTAAGCTGGCCCACAAGTACAGACCAGAGACAAAGCAAGAGAAGAAGCAGAGACTGTTGGCCCGGGCCGAGAAGAAGGCTGCTGGCAAAGGGGACGTCCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGNN
pathogenic
153,399
Mutation at chromosome 9, position 133352069, within SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
CCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTC
CCCAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTAATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCA
pathogenic
153,407
Evaluate the clinical significance of the mutation at chromosome 9, position 133352071 in gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
CAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCA
CAACGAAGAGACCACCTGTCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTG
pathogenic
153,408
Gene SURF1 (SURF1 cytochrome c oxidase assembly factor) variant at chromosome position 133352089 on chromosome 9: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
TCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTA
TCCTTCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAN
pathogenic
153,412
Is chromosome 9, position 133352093, gene SURF1 (SURF1 cytochrome c oxidase assembly factor) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
TCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAA
TCGAGCAGGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAANN
pathogenic
153,413
Regarding the variant at chromosome 9 and position 133352100, affecting gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Inborn_genetic_diseases', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
GGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGAC
GGTGAGTAGGCCCCACCTTAGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACNN
pathogenic
153,414
Evaluate the clinical significance of the mutation at chromosome 9, position 133352119 in gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['Leigh_syndrome']
AGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTAT
AGGGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATNN
pathogenic
153,415
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 9, position 133352121, gene SURF1 (SURF1 cytochrome c oxidase assembly factor). What disease(s) is it linked to if pathogenic?
pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
GGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGT
GGTGAACACTGGGGGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGCCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTNN
pathogenic
153,416
Mutation at chromosome 9, position 133352134, within SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_2', 'Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
GGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAA
GGCGGGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAANN
pathogenic
153,418
A genetic variant at chromosome 9, position 133352138, affecting gene SURF1 (SURF1 cytochrome c oxidase assembly factor)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
pathogenic; ['Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
GGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATAT
GGCTGTTGCAGTGATGTAAAATTTCTTGGCCTGAAATTACTGTGAAGAGTAAAACCGAGCTTTTTAACACTGAGTCAGCAGCTGAGCCCAGCAGCTTCTTGTGACTAGAGCAGGCCCTGTGAGTGCTCACAAAGTGGTTGTGTGTTCTAGGAGTTAACACCGTCACCACCTTGGTGGAGAACAAGAAAGCTCAGCTGGTGGTGATTGCACACGACGTGGATCCCATCGAGGTGCGTTTGCCTGTTGACTGCTAACCCAAGGGCTTCTGGCAGTACCAGGAAGAGAGAGTAGACCTAATGCCAAGTCAGTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATNN
pathogenic
153,419
Chromosome 9, position 133352445, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
GTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTC
GTGATGGGACCGAAGTGGGTGAGGGCAGTACTGACACAGATCCAACACATGCGTGGCTCTTGCAATGATGTGAATCTCTCACTGAATTCAACCTTGAAGTGCGAATCCATGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCN
pathogenic
153,423
A mutation at chromosome position 133352554 on chromosome 9 in gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
TGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCA
TGAGCTTTTTAACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCANNNNNNNNNNN
pathogenic
153,429
Variant in SURF1 (SURF1 cytochrome c oxidase assembly factor), chromosome 9, position 133352564—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Leigh_syndrome']
AACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCT
AACCCTGAGCAATTGTTACAAGCTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTNN
pathogenic
153,430
Clinically, how would you classify the variant at chromosome 9, position 133352586, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
CTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGC
CTAACTGAAATTTGCTGCTTTTGGTCAAAATACAGTCTTCAGCTAATGCTTTCTTCCAGCTGGTTGTCTTCTTGCCTGCCCTGTGTCGTAAAATGGGGGTCCCTTACTGCATTATCAAGGGAAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAA
pathogenic
153,431
Mutation at chromosome 9, position 133352707, within SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Inborn_genetic_diseases', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
AAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGA
AAAGGCAAGACTGGGACGTCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGCAGGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGA
pathogenic
153,433
Does the chromosome 9 mutation at position 133352725 within gene SURF1 (SURF1 cytochrome c oxidase assembly factor) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Leigh_syndrome']
TCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGAT
TCTAGTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATNN
pathogenic
153,437
Variant at chromosome 9, position 133352729, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
GTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCA
GTCCACAGGAAGACCTGCACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAN
pathogenic
153,438
The mutation in gene SURF1 (SURF1 cytochrome c oxidase assembly factor) at chromosome 9, position 133352746—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome']
CACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCA
CACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCC
pathogenic
153,440
Regarding the variant at chromosome 9 and position 133352746, affecting gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
CACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCA
CACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCANN
pathogenic
153,441
Is the variant located on chromosome 9 at position 133352746, gene SURF1 (SURF1 cytochrome c oxidase assembly factor), benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
CACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCA
CACCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCANNNN
pathogenic
153,442
Benign or pathogenic: chromosome 9, position 133352748, gene SURF1 (SURF1 cytochrome c oxidase assembly factor) variant? Disease(s) if pathogenic?
pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
CCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGA
CCACTGTCGCCTTCACACAGGTGAACTCGTAAGTACACAGCCTGGCCCCAAACTTCCCCCCAGTTCATTTAATCCATGCCTCACAGTTGTTTCCTTTTGCCTTAAAGGCCAATCTTTTAGTTTAAGAAATATATTTATCTGAACTTTTGCCAATGATGGTTAAGAATTTCTTCACCTGAATAAACCATGTGGTCAGCATTGCATCTGAGGCAAAAGACTGTCTTGAGCTAAAAGGTATTTTTGCATTCTAAAAGGGAAACTAAGGCAAAAAACCCACTTTTGTTTCCCCTCCTGCCTTTTAGGGAAGACAAAGGCGCTTTGGCTAAGCTGGTGGAAGCTATCAGGACCAATTACAATGACAGATACGATGAGGTAAGAGGCAGCTTTACACCAAAATACTGTCATTCACAAATCTTTCTCCCAAATAACTGGCTGGCTTAACCTATGAGAAGTTCTATCTGACGATCAGCTTGGAACAGCCAAACAGAATTAACGCAACTAATAACCTTGAAAATCTCAGAAAACAGTAAGCCAAGCTAACTGCCTCTTTTTGTCTTTTCAGATCCGCCGTCACTGGGGTGGCAATGTCCTGGGTCCTAAGTCTGTGGCTCGTATCGCCAAGCTCGAAAAGGCAAAGGCTAAAGAACTTGCCACTAAACTGGGTTAAATGTACACTGTTGAGTTTTCTGTACATAAAAATAATTGAAATAATACAAATTTTCCTTCAGCCAGTGTCTGTTGAGTATCTCGGGTTGAATCTTACTTGGGGTTAGCAAGTATCTTTTTGAGACACAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATGTCAAAGCAACCTTCGCCTCCCAGGTTTAGGATATTCTGGTGCCTCAGCATCCCAACTGGCTGGCCCATATTTGTGTTTTTGGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTGAGCTCCTGACCGCACCCGGCCCTTCCCACCCTTAAATACATTCTTAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAG
pathogenic
153,443
Variant chromosome 9, position 133353747, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? Disease(s)?
pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
TAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCAC
TAAACCAGGCATTTTGTTCCCTAGAGATGTAACTTGAGTATCAAGTTTTGGGAAAGTTCTTTGGACTGAAACCAAGCCAGGATTTTATGATGAACCAGTCATGAGCTCATTTAAGGTAGAAGGCCAGAACTTTATACCAGTAGCACATGATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACN
pathogenic
153,448
Mutation found at chromosome 9 position 133353895, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
GATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTAC
GATCCAGCATAAAGGCAGTCTTGAAATACTGCATTATCCAGGGACAGGGCTTCAGCAGCTGATCTGTCACACACCAGGTGTCCCACGTAGGAATTTCTTAAACCACAGGTAGGATGTAGCTGCAGAGAGTCCATACCTAGGGGTTGAAAGCAAGCCAGCATTAGCAGGCTGCTAGGCTGAAGGGGAGGAAGCCAGAGGGCCGCTGGGGACTCACCAGGTCACGATGTACTGCAGATGCTCGTTCCTCAGAGTAACTCTGGTTTGCCCTCCAATGGGTCCTCCAGGGACTGTGCTCTCTGTGGAGACAGCAGACTCAAGTCCACCCCCTACTGGCCTGCCAGCCTCTGCACCACTTCCTAGTGGCTGTCATTTTTGCGTGGCCAGTTGGAAGTCCTGTATGGCCTTTACGTTGGGTGACCATCCCCGCCCTTGTCCGCTCAGTACTTGCCTAGGTTCTTTGCTGAGTTGCTGCCTCCTCCCACCCGCCATATACACATGTGAGAACATAAGCCACAGTAGTGACTGGGCAATGAGGGTTAGGAGGAAGGACAGTATTCACAAAAGCTACTTGTTCCGAGATGGGCTGGTCCACAACGTACGGAAGTTGGCATCAATGAAGATGGGCTCTGCGCCTGTGATTCTGGCCATAGCTTCCAGGTCTCGATAATGCCAGTGGTTCCTTTCTGGATTGTTCTCAGGGACAAAAGGCTGCCTGGTTTCTGTCAGCCTCACCATCCCAATGAGGTCCACTTCTCCCTCAATCTATAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACNN
pathogenic
153,450
Regarding the variant at chromosome 9 and position 133354660, affecting gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; []
TAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAG
TAAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGNNNNNNNNN
pathogenic
153,452
Mutation found at chromosome 9 position 133354661, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1', 'SURF1-related_disorder']
AAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGG
AAAGGAAGGTGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCATGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGNNNNNNNN
pathogenic
153,453
Gene SURF1 (SURF1 cytochrome c oxidase assembly factor) variant at chromosome 9, position 133354670—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
TGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTG
TGTGTGAGATTGCATGGAGCCTGGTGGACTCCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGATGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTT
pathogenic
153,454
Variant at chromosome 9, position 133354700, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['Leigh_syndrome', 'SURF1-related_disorder']
CCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAG
CCCAGAGCCTTCTCTAAAGTAGGAAGAGTCCATGTCCCTTACCTGGCCTTTCTGCCGGGTTTCAGGATTCACTTTCTTCCTGGGAACGAACCCTCTATTTACCAGGATGGTGACTCTAGGGTAATGAAAGTGCTACTTCAGGTGGGGAGGGTTTTTGACTAAAGACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGA
pathogenic
153,455
Determine whether the variant at chromosome 9, position 133354864, in gene SURF1 (SURF1 cytochrome c oxidase assembly factor) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
ACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGC
ACAGTCACTCATGGTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGG
pathogenic
153,463
Clinically, how would you classify the variant at chromosome 9, position 133354877, gene SURF1 (SURF1 cytochrome c oxidase assembly factor): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Leigh_syndrome']
GTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCAT
GTCACTCAGGCACCCATAGGAACAACTAGAGCACCAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATNNNN
pathogenic
153,464
Variant on chromosome 9, at position 133354911, affecting SURF1 (SURF1 cytochrome c oxidase assembly factor): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
CAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATCCTGACAGGTCACGAGCTGCCCTGCCGCCTGCCG
CAAGGAAGGCTTTTAAAACAGGGCTGGCTCAGTGGAGCCCTGGCAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATCCTGACAGGTCACGAGCTGCCCTGCCGCCTGCC
pathogenic
153,466
Considering the variant on chromosome 9, location 133354954, involving gene SURF1 (SURF1 cytochrome c oxidase assembly factor), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Charcot-Marie-Tooth_disease_type_4K', 'Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
CAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATCCTGACAGGTCACGAGCTGCCCTGCCGCCTGCCGGAGCTCCAGGTCTACACCCGCGGCAAAAAGTACCAGCGGCTGG
CAGTGCCACACAGGCAAAGTCTTCCTCTCTTGAGGCACCTTCGTGGTTGGTAAAAGGCTCCCTGCCACCATCACTACCTTTTTACCAGTGTGGCTTTCCCCTTCTATCTCTGCTTCTTGTGGTCTACCTACTACAACGTGCAACTGGTGAGCAACGCTGCCACGCCAGAGTTTAGACCCCACACCTCTCCCCTGAACTATGGCAAGAGCTGTCTCCAATCCCTCCTCCTAACCAAGGCAGCCGTGAGGAGCAGCCCTGGCACCCCAGCCTGCTGGAGATGAGTACTTGGGCCCCATCCCAGCCCTAAAACAGGAACCCATGGGTTAACAAGAGCCCCAGGTATTTTCATTTTTACGTGAATCCTCCAGTTCCCTAGTTAATCACACAGGTGCTCCTGTACCTGTCATTTGCTTTGCCTGGAATGTTCTTCCCATCTCTTAACTCCCAAATAGCCCTCTAGGGAGCCACCCCTGCCTCCACTCCCTCAAGGTAGGGCTGGGGTCCTTTCTCTTGAAGTCCTCTTGCTGGCCCCTCATAGCTTGCCATCATCTAATGTGTGGGCAACTAGACAGTTCTCCAGAGGCAGGGCCCCTGTTTCACGAATCCCTCCTTTCCCTTCAGAGGTCAACATACAGAAATTATCCAGTCATAAATGAGCTGGCTGAGAAGATTAAGTCAATGTCACAATTAGGGACTTAAACTATGCAAGGAATTGAATCTCCTGGGTATCTTGGGTTCCCCAGGGTCCTACCAAGGTTGGGGATTGTGAAGGAAATAGTGATGTAAATTAGTATACCCTGACTGCCTCTGCCAGGACAGCCAGCTCCCACATGTCCTACTCACCCCAGGTCGGTGCAGTGGAAGGGAGTGACCACATAGGCCCCACTCTGAGTTGAGGAGGAGATGAGGCCGCCCTCCCGGGCCTCCCGGACAGGGTCCACCATGGTCCGGGGCATCATATACAGCTCCTTGGAATGGTCAAAGCACCCCCTGACCTTCACTGGCCTATACTCCAGATTTTTCAGTTCCATTGGGCTGCATGGAGATAAGAACAGTGGCCGAGCAAGGTTTGGCTGGAAAACGAATCCCCTGAGGGTGGCAGACTACACAGCCCACCAGGGCCAGACAAGTGAAGGAGAAAGGCAAAGGGCGTGCTCTTCAAAGGGGAACTTTGATGCCATGTGGGAATGTGGATCTGCACTGCCAGAGTCCAACTTTACAAGAGAGGCTAAAAATCTGGACTCCTCAATGAATATTTTATGTGAAATTTTAAAAAATATGTGGGCCAAAACCCCATCTGCAAGCCAAATCTGGCATACTGTTTGCTACCCTGAATGGAAAATGTGGCTGAATATACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATCCTGACAGGTCACGAGCTGCCCTGCCGCCTGCCGGAGCTCCAGGTCTACACCCGCGGCAAAAAGTACCAGCGGCTG
pathogenic
153,467
Located at chromosome 9 position 133356309, the variant affecting gene SURF1—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Leigh_syndrome', 'Mitochondrial_complex_IV_deficiency,_nuclear_type_1']
ACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGCTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATCCTGACAGGTCACGAGCTGCCCTGCCGCCTGCCGGAGCTCCAGGTCTACACCCGCGGCAAAAAGTACCAGCGGCTGGTCCGCGCCTCCCCGGCCTTCGACTATGCAGAGTTCGAGCCGCACATCGTGCCCAGCACCAAGAACCCGTAGGTGGTCCGCGGCGGCGCGGGGAGGCCCAGGGCAATTAGGACAGCCCCTCCGCTGGACTCCGCCAGTGCTGCAGCCCCTACTCTTTCAGAGTTGGGAGCCCTGGGACCCAGGTGGGCGCCCGGGTGCTGGAATCACCTGCGGTCCCAGCGGCGAGGCCTCTTGGTGAGCTCGTTTGCTCACCTGAGGTTTGTCCTGTGGGGTGTGGCTGCTTCCCAGATGAGTAGAGGCTTGTGATTTGTCACCTGAGGTTGTGAACAGCGTTGGGTTCTTCCCTTAACCCCAGAAGGGGTCTTTGATTTAGCTGGGAGCTAGGCTTTGTAATAATCGTCAAAACAGAGATAGGATGTTTCCATTCATTGAGCCCTTGCTCCAGGTGGAGCCATCCTCTTGCATGAACTCATCCTGGAGCAGTCAGTGAGGCTGCCATGCGTGCTTTTCCGGTAAACATTAAGAGGCTGCAGTCGGCCTGGGTCAGACGGTTCCCCACCCAGCTTCAGAGTGGAATTGCTCCGGGAGCCTTTAAAAGCCCGATGTCCAAGCCGCATGGTAGACTGTCCAGGGATGAGTCCAAGACACAGCCACCAGTCTGAATCCTTGCTGTGAACTGTCCCTACAAATTTGGTCTCTCTGCTCTGTAGGCACCAGTTGTTCTGCAAACTCACCCTGCGGCACATCAACAAGTGCCCAGAACACGTGCTGAGGCACACCCAGGGCCGGCGGTACCAGCGAGCTCTGTGTAAATGTAAGTCCCAGTGGACCCCCATCAGTGCATCGCCATCTGAGTGCATGCCCGCCTTGCCCCAGATGGAGCGTGCTTGAAGGCAGGTCGTCCTTCAGCGATCCGTGTTGATGCATCAGGCCTGTTTTTTGGCACAGTGAAGAGAGGGATGATGGCCCCTGACCCCACAGCTTTTAGTGCAGGCAGGCACAGAGCCAGAAGCAGGCTCGGGAGTGAGTGAGTGTGCGTGGCAATGCGAGGTGTGAAAGAAACTGGGCGAGGGATGTGGGGTGGGCTTGCGGAGACAGGAGGGCTGGGGAGACTCGCTGAGGGATTCGCTCGAGGCTGAGGCTGGAGGGATGTGGTGGCAGTGGGGTCGGGGGAACAGCACCCCAGGGAGAAGCCAGGGTCCATGGAAGTCTGAGGCAAAAATGTGTTGGCTGAGGTAGGCTCCAAAGGACTGGCTGGGCTAGTGTGCACAGCCCGGATGACCCAGAGACCAGGCCAGGAGCACTGCAGTGGGTGTGTGGAGAGGGTTGGGTGGGGGCTGCATGGACAGTGTGCAT
ACCTATCTCTGTAGGGCATATTCTAGGGAGAGAGCAGACAAATCATTCAGGGCACTTTTTCAAACGACCACCCTCACGGTGAGACCTACATTATCTGTCCTCAGCCACAGGGCCTTGGGCCCTGTGGAGGATAAGTTTACTATACCTGAAAAAAGGGTGACACCCAGGACTCAAAATAAGACTTTCCTCCATATGTCAGGAGGCGGTCTCAGGTAGCTTCACAAGGGCAGTCAGGTGTCAACAGCAAGCCCAACAGATGACTGATAATGAGAGCTCCCACCTGAGGTCAAGGCAGTGACTAAAAGTCCCACCAAAAGGGGCAAGCTGGCCAGCAGAAGCCAGGGCTCTGCTGTTGAACTCAAGTAAAACAGGCCCTAGGGGGGCAGCCATGCACTCACTCGGCTGGCAGAGGGACAGGCTCAGCCAGAACTCTGGACTCCAACTCTGCAATCAGGTTCAGCTTCCACTTCCGACGCTGGACCTACAGTGACAGAGCATAAGGCCAAGCAGATGGCAGCAAGGTCAAGGGCCCAGAGTTACGCACACCAGATGCCGGTCTTTACCTGCCATGTCCCCAAGCCAAAGGCAGTCACAGGGATGAGGAGCAGGACCCACTGAAGAAAGGAGTCATCTTCCGCTTTTGTGGCAGATGCTTCTGCTGCAGAACTGCCACATCTGCTTGGCCTCCAGGCCACCCCTGGAGAGTTTCACAACACTGACATGGAGCCAGAAGCCCTCGAACACAGACCTGGAGCAGCCCGTTCCAAGACAGACTCCAGTACTGCCAATCAAAACCTGCTGCCTAGAGCCAACTAGCAGCACCTGTATCCAGCCCAGCTCCTAACCCGGTGCCCAGAACAAGGCACACACAGTACGTCTGCCAAGTGAGTAAGTGGGATCTAGGGCTCAGTGCCGGTTTGACCACCAACCACGACCCTGAGTAACTCATGCCTTTTTACTCAAGAATCTAGATGTATTCCACTGCACTAAGATGCACCATTCATCCATTCAAAATGCATTTAATAAGCAGCTACAGTTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGCAGAAACCCCATCTCTACAAAAAAATGCAAAAATTAGCTGAGCACGATGGTGCTTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGTGGTTGCTGTAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTGTCTCAAAAAATAAAAAATAAGCAGCTACAGTTACTAAGTAGCTTAGTCAGGCACTAGTGGTTGTTGTGTTATGTAGAAAAATATATCAATTCAGTAATGGCTCACAGAGCTCTCTTAACAGCTTTCCATTTTTACAACTCATCGTAAATGTAAAGAGGGAAGAATGTACACAGAAAGTGCCTTTAAGCTCTCAGAGGATGAGTTCCATCCGCTGAAAAGCACCAGGGGCCTTGCGGATACTATTTTTTTTTTTTTTTTTATAAAAAGGCAGGCCTGGGGCAGGCTTGCACAGCACTCTACACACGGCAAAACAGCCCTGTGCTGCACACTGAGAGGAACACGTAAGCCGCGGTGGTTAGATACGCTTTACTTTCAGAGCCCTGGGCTTTCAGCCTGGGCTGGCCACCCATTAGCTGGATGGGACGTTCGGAAGTAACTCTCGAGCCTTCTCTGTAACAGGGGAACGACCAAGGAGCTACCTCTCGCGTTGTGAGGACAAAGCGCTCGCTACATGCCCGGCACACGACCACAATTCCACTGAAAGCATTTTAATACGGAACTTGTCACTCCCAGGGAGCCTCCGCTCAGCCGGCAGTTGGTTCATTTCAATCCCCACGACAACCCTTCAAAGTGCAGGGCAGACAGCAGGTGGCTCTGCCCAGGCGCCTGGATCACAGCCCGGCCTGCAGCCCTCACCTGGGCGCGGGGAGACCCTGAGGACGCTCCTCCAGGCGGCGTGGCCGGGGCCTGCGGACACGGACGGGCGGGCTGAGCTCCGGGACCCCTCCCCGCGCCCCGCACCCCGCACCCCGCACCCGGCGCTCACCCGTCCCAGCCCCGCCGCCCGCAGCCCCAGCTGCAACGCAGCCACCGCCGCCATCGCACCCGGCCCCGCGGGCGCTTCCGGGACGCAGGAAGCATCTGCATCCGGGGCGCCGCTGAGTCCCGCCCAGAGCCCCGCCCCCGGCTCCAGGTTCTGCGAGCGGCTTCCGCCGGGCTGCTCCGCGGGCGCGTCGGCCATGAGCGAGTTGCCGGGCGACGTGCGGGCGTTTCTGCGGGAGCACCCGAGCCTGCGGCTCCAGACGGACGCCCGCAAGGTTCGCAGCGCGGGAGGGGAACGGAGTGGCGGAGAAGGGCGCAGTTGGGATGAGGGGCTGAGGGGAGGGCAGGGGAGAGGAGAGGGCAGGGGAGAGGGGAGAGGGGAGAGCAGGAGAGAGGGGAGGGCAGGGGAGAGGGCGCGGCGGGATCAGGGGAGGAGAGGGAAGGGGGCGCGGCAGGAGGGGGCACCAGGGAGCGGAGCCCTGGCCCTCCTGACGTCCTGCCCGCCCACGCGTCCGCAGGTGAGGTGCATCCTGACAGGTCACGAGCTGCCCTGCCGCCTGCCGGAGCTCCAGGTCTACACCCGCGGCAAAAAGTACCAGCGGCTGGTCCGCGCCTCCCCGGCCTTCGACTATGCAGAGTTCGAGCCGCACATCGTGCCCAGCACCAAGAACCCGTAGGTGGTCCGCGGCGGCGCGGGGAGGCCCAGGGCAATTAGGACAGCCCCTCCGCTGGACTCCGCCAGTGCTGCAGCCCCTACTCTTTCAGAGTTGGGAGCCCTGGGACCCAGGTGGGCGCCCGGGTGCTGGAATCACCTGCGGTCCCAGCGGCGAGGCCTCTTGGTGAGCTCGTTTGCTCACCTGAGGTTTGTCCTGTGGGGTGTGGCTGCTTCCCAGATGAGTAGAGGCTTGTGATTTGTCACCTGAGGTTGTGAACAGCGTTGGGTTCTTCCCTTAACCCCAGAAGGGGTCTTTGATTTAGCTGGGAGCTAGGCTTTGTAATAATCGTCAAAACAGAGATAGGATGTTTCCATTCATTGAGCCCTTGCTCCAGGTGGAGCCATCCTCTTGCATGAACTCATCCTGGAGCAGTCAGTGAGGCTGCCATGCGTGCTTTTCCGGTAAACATTAAGAGGCTGCAGTCGGCCTGGGTCAGACGGTTCCCCACCCAGCTTCAGAGTGGAATTGCTCCGGGAGCCTTTAAAAGCCCGATGTCCAAGCCGCATGGTAGACTGTCCAGGGATGAGTCCAAGACACAGCCACCAGTCTGAATCCTTGCTGTGAACTGTCCCTACAAATTTGGTCTCTCTGCTCTGTAGGCACCAGTTGTTCTGCAAACTCACCCTGCGGCACATCAACAAGTGCCCAGAACACGTGCTGAGGCACACCCAGGGCCGGCGGTACCAGCGAGCTCTGTGTAAATGTAAGTCCCAGTGGACCCCCATCAGTGCATCGCCATCTGAGTGCATGCCCGCCTTGCCCCAGATGGAGCGTGCTTGAAGGCAGGTCGTCCTTCAGCGATCCGTGTTGATGCATCAGGCCTGTTTTTTGGCACAGTGAAGAGAGGGATGATGGCCCCTGACCCCACAGCTTTTAGTGCAGGCAGGCACAGAGCCAGAAGCAGGCTCGGGAGTGAGTGAGTGTGCGTGGCAATGCGAGGTGTGAAAGAAACTGGGCGAGGGATGTGGGGTGGGCTTGCGGAGACAGGAGGGCTGGGGAGACTCGCTGAGGGATTCGCTCGAGGCTGAGGCTGGAGGGATGTGGTGGCAGTGGGGTCGGGGGAACAGCACCCCAGGGAGAAGCCAGGGTCCATGGAAGTCTGAGGCAAAAATGTGTTGGCTGAGGTAGGCTCCAAAGGACTGGCTGGGCTAGTGTGCACAGCCCGGATGACCCAGAGACCAGGCCAGGAGCACTGCAGTGGGTGTGTGGAGAGGGTTGGGTGGGGGCTGCATGGACAGTGTGCATN
pathogenic
153,472