Datasets:
wanglab
/
variant_effect_non_snv

Dataset card Data Studio Files
xet
Community
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
Considering the genetic mutation at chromosome 19, position 35033491, impacting SCN1B (sodium voltage-gated channel beta subunit 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
benign
AGAAGAGAGAGGGAGATGCGGGTGCCCGTGAACACCGGGAGAGAATCTTGCATGGAGTTTGAAAAGGGATAGACGTAGAAAGGTGGAAAGAGATTAGGAGAGGTCTCCTTCTGAGCCCAGAGAGTGGACAAAAAGTGGAGGGACCTTCAGAGAGACCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAGGCAGAAAGGAGGTGCCAGGTAAGAGTGTGAAGGAATTCTAAGACTGGAATTCAGTGGGCTGCAAAAGCCCTGGGGCAGGAGAGAGCTCAGGAAAGCTTTGAGTAGTGGATGGGGTTGGGGTGGGAAGAGCTCTAGAGGCGAGGAGCCTGGGGAAGAGGGGATGATGGAGGCAGGAGAGGCCGGGGAGGGGATGGCTCACACAGGGGCTTGTGGGCTGTGGAGAGGGGCTGAGTGTGGGTCAGCCCCGGTTTCAGTGCCCACCTCCCCACAATCCCCCACCCCCAGACCTTTTCTCCCAACCCATTTCTCCTGGAGCTAGCTGGTTTTACAATTTAATGGTGAAAATGACTGCCACCTTAAACTTCTAACTTAGCTGGAATTCTCATTCTACCACCTAGATGCTTGGGTTCCTCCAGCAAGGGACTTTCTGAGGAAGGGGCACTCGGGTAGCATAAAGTCTGAGTTACCGGCAACGTTGACAGTCCCACTTATGGGGCCTCCCATGTACAAGGCCCTACCTAATGTATGAAAATGGGCCCAGCCATTGCTGGAAGCAAAGGACCATTTCTTTCAACAAGAGAGAGGGAAACTGAGACTCAGGGATGAATGACTTGCTGAGGTCACGCAGTGAGTGACAGGGCTCAGCCTAGCATCCAGTCCTGTCTGCTGGTAATCATTGAGGGGGGAACAGATGGTTTGTGAGGGGTCTGGCATTGCTTAGGGCAATGGGTGCCTCTGCCTGACCTGAGCCTGCTGTCCCCACAGTGTCCTCAGCCTGCGGGGGCTGCGTGGAGGTGGACTCGGAGACCGAGGCCGTGTATGGGATGACCTTCAAAATTCTTTGCATCTCCTGCAAGCGCCGCAGCGAGACCAACGCTGAGACCTTCACCGAGTGGACCTTCCGCCAGAAGGGCACTGAGGAGTTTGTCAAGGTGTGCGGGTGCCGGGAACGGGCATGGGAGGGCAGGGGTCCACGAGTGGGAGGCGGTGGGGCTGGATCTCAGGGAGGGGGCTTATTTGTTTAATAATATGCTGTGATTGCTGACCTGGATTCAGATTCTGGCTCCACCAGTGGCCAGCTGGTGACCTTGGCCAAGTCAGTGAGCCTCTCTGAAAGTCAGTTTCCTCCTCGGTAAAGACGGGGTGGCGGTGGTCTCTAGCCCATAGGTTTGTGTGAGGACTGAATGCATTGACGCACCTGGCACACGGTTGGCATGAAATAAATGTCAGTGGACTTATTTGGCACCAGCAAACAATGTCTCTGATAGTCATTACGGAGGGAAGACAGAACTGTTTTTTTTAACCTCCTTTAAACTATGTGTGTATTTTGCATTATATATCGGTGAGGGAACCATAAAATTCTGTGACGTGCTGGAGAGTTGGGGTCTCCAGCTGCTGGAATCAGGCTGCCCTGTCTCTGCTGGAGGAGTGTGTCTGGTGGCTGGGAAAGAACGGCAGAGAATGATAGCCTAGAGGCCAGATGGGGCTTGGGAGGATGACTGAGGAACGTGTGTGTGCTCGTGTGCATCTTGGCTAGAGGCAAAAGCGGGGTCTGGTTGACTCCAGGCGTGATCCTAGCCCCCCACCCCTGTGCCCTCCCTGCCTGAGGTCAAGGTGTCTGAGCCCATCTGTGTGCCATCTGTGTTTGTGGGTGTCAGGGCAGGGGACAGAATCAGGGTCAGGTAAGGGAAGAGAGGCCCAGGCAGTGACACCTTCCCCTCCCTGGCTACCCCTAGATCCTGCGCTATGAGAATGAGGTGTTGCAGCTGGAGGAGGATGAGCGCTTCGAGGGCCGCGTGGTGTGGAATGGCAGCCGGGGCACCAAAGACCTGCAGGATCTGTCTATCTTCATCACCAATGTCACCTACAACCACTCGGGCGACTACGAGTGCCACGTCTACCGCCTGCTCTTCTTCGAAAACTACGAGCACAACACCAGCGTCGTCAAGAAGATCCACATTGAGGTAGTGGACAAAGGTGAGTCGGGTGCTGCCTGCCCCTTTACCGTCACCCACCGGAGAGCCAGATGGAGGGACAGATGGCAGGCAGTGGACAGGACAGGCTGGCTCTGTGCCTGGCCAGCCAACCGCCCACAGCAGCGGGCTGAGGGGGAGGGGAGCAGCCCCTCCTGCCCACTCCAGCTCTGGCCTCTGTTTCTCTCCAGCCCACGGAGAGGTCAAAGCATGCCTGTCCCCCACAGACGCTCCGGGTACAGAACCCAGCTCTGTCACCTGTGCTGTATGACCTCTGGCAGGTGCCTTCTGTCTCTGAGCCAAAGGGTTGTCCTGGGCTTGCCCGGGATAATAATCCGATGTGTTTCTCGGGGTGTGGTTTGAGCCATTCTTCCATCATGGGGTTCATGAGGATTGAGCAGCTGCAGGCACACGCCTGGCTTCCAGCAGAGCCTTGCAGGTGGTGGCGAGGGTGGCGGTTCTTACTGTTCGAGTAGCTCAGCCCTGCTGCCCTCTGTGGTGATGAGGCAAGAGAGCGTGCCACCTAGAGCAGAGTTCCGCACACCCCTCTGCACTCCTGCCCCGGGGGAGCCGCGCTGGCCTGCAGTCTCACTCAACACCTCTGGGGCGGGCCTAGGGGTCCTTTCTAAAGCTCTCAGGTGAGGCAGTGAAGGGCCACAGGTGCGGGGCCCACCCTCTGAGCAGCAAGGGCCTACAGCGCTTTTGAACGTCTCATCATTTTGCCTCAGCCACCCTGGACCCCTTTTCTGAGGGAGGTCCGCCCCTTCTCTGATCCATCTTCTGCTCAGCATCAATTGCAATTGTCCAGCGCCCTGTGGCCACTGGCTTAGAGTTGGGGAAACAGCCCAGGCCTTGAAGCAGCTACAAGCCGTGGCAGAAAGGTCTCTCAGGGCCACGGCACACACATCCTCATGGGCAACACGCACTGCCCATCTTTTCTGTGAGATGGGTGCCGGCCTCAGTGCCTTACACGGAGTCCCTTAGTGAATCCTCTCCCCACCCTCTGGGGTAGGGGCTCTTCCTATCCCCATTTTACGGATGAGAAAACCAAGGCTCAGGGAGGGAAGGTTATGTGGCCAAGGTCATGTGATTGGGAGCTGGACTTGAATCCAGAGGAGCTTGGGTGACTGTGTTTCTGTTCTTGGCATGATTCACTGTACTCTGTGATCAGCCAGAGCCTGTGGGTTTCTTTTTATAATTAGCATTTTTACGTTTATTGTCAAATTGGTGTAGCAGAATGCAATTCAGCAGGCATGTCTGAGCCACTCTGGTGTTTGTCACGATGCTGGGGGGTGGGGGTCACCCGCAGACATGGATGATGGAGCCCCGCCTGCGGAGTTGCTGTGACAAAGATGCCTGCGGTACTGGGACTTTACAAAACCTGTGTTATTGCTCTTGCAAATCTGCAGAGGTGAGATGGGGAGAGGGTGGGAGGCTCCAGGGCACTGTTCAGCCACCCAGGTTCTTTCCATCTTGTTGTTTGGCAGTTGGCCAGGGTGTTGTGTCCTCTGTACGCCGTGACCCAATAGAGCCTCTTTTTTTTTTTTTTTAAATTTAGATTTTTATTTTTTGAGACGGAGTTTTGCTATTATTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCCCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGATATGGAGTTTCCCCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTAATGATCCACC
AGAAGAGAGAGGGAGATGCGGGTGCCCGTGAACACCGGGAGAGAATCTTGCATGGAGTTTGAAAAGGGATAGACGTAGAAAGGTGGAAAGAGATTAGGAGAGGTCTCCTTCTGAGCCCAGAGAGTGGACAAAAAGTGGAGGGACCTTCAGAGAGACCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAGGCAGAAAGGAGGTGCCAGGTAAGAGTGTGAAGGAATTCTAAGACTGGAATTCAGTGGGCTGCAAAAGCCCTGGGGCAGGAGAGAGCTCAGGAAAGCTTTGAGTAGTGGATGGGGTTGGGGTGGGAAGAGCTCTAGAGGCGAGGAGCCTGGGGAAGAGGGGATGATGGAGGCAGGAGAGGCCGGGGAGGGGATGGCTCACACAGGGGCTTGTGGGCTGTGGAGAGGGGCTGAGTGTGGGTCAGCCCCGGTTTCAGTGCCCACCTCCCCACAATCCCCCACCCCCAGACCTTTTCTCCCAACCCATTTCTCCTGGAGCTAGCTGGTTTTACAATTTAATGGTGAAAATGACTGCCACCTTAAACTTCTAACTTAGCTGGAATTCTCATTCTACCACCTAGATGCTTGGGTTCCTCCAGCAAGGGACTTTCTGAGGAAGGGGCACTCGGGTAGCATAAAGTCTGAGTTACCGGCAACGTTGACAGTCCCACTTATGGGGCCTCCCATGTACAAGGCCCTACCTAATGTATGAAAATGGGCCCAGCCATTGCTGGAAGCAAAGGACCATTTCTTTCAACAAGAGAGAGGGAAACTGAGACTCAGGGATGAATGACTTGCTGAGGTCACGCAGTGAGTGACAGGGCTCAGCCTAGCATCCAGTCCTGTCTGCTGGTAATCATTGAGGGGGGAACAGATGGTTTGTGAGGGGTCTGGCATTGCTTAGGGCAATGGGTGCCTCTGCCTGACCTGAGCCTGCTGTCCCCACAGTGTCCTCAGCCTGCGGGGGCTGCGTGGAGGTGGACTCGGAGACCGAGGCCGTGTATGGGATGACCTTCAAAATTCTTTGCATCTCCTGCAAGCGCCGCAGCGAGACCAACGCTGAGACCTTCACCGAGTGGACCTTCCGCCAGAAGGGCACTGAGGAGTTTGTCAAGGTGTGCGGGTGCCGGGAACGGGCATGGGAGGGCAGGGGTCCACGAGTGGGAGGCGGTGGGGCTGGATCTCAGGGAGGGGGCTTATTTGTTTAATAATATGCTGTGATTGCTGACCTGGATTCAGATTCTGGCTCCACCAGTGGCCAGCTGGTGACCTTGGCCAAGTCAGTGAGCCTCTCTGAAAGTCAGTTTCCTCCTCGGTAAAGACGGGGTGGCGGTGGTCTCTAGCCCATAGGTTTGTGTGAGGACTGAATGCATTGACGCACCTGGCACACGGTTGGCATGAAATAAATGTCAGTGGACTTATTTGGCACCAGCAAACAATGTCTCTGATAGTCATTACGGAGGGAAGACAGAACTGTTTTTTTTAACCTCCTTTAAACTATGTGTGTATTTTGCATTATATATCGGTGAGGGAACCATAAAATTCTGTGACGTGCTGGAGAGTTGGGGTCTCCAGCTGCTGGAATCAGGCTGCCCTGTCTCTGCTGGAGGAGTGTGTCTGGTGGCTGGGAAAGAACGGCAGAGAATGATAGCCTAGAGGCCAGATGGGGCTTGGGAGGATGACTGAGGAACGTGTGTGTGCTCGTGTGCATCTTGGCTAGAGGCAAAAGCGGGGTCTGGTTGACTCCAGGCGTGATCCTAGCCCCCCACCCCTGTGCCCTCCCTGCCTGAGGTCAAGGTGTCTGAGCCCATCTGTGTGCCATCTGTGTTTGTGGGTGTCAGGGCAGGGGACAGAATCAGGGTCAGGTAAGGGAAGAGAGGCCCAGGCAGTGACACCTTCCCCTCCCTGGCTACCCTAGATCCTGCGCTATGAGAATGAGGTGTTGCAGCTGGAGGAGGATGAGCGCTTCGAGGGCCGCGTGGTGTGGAATGGCAGCCGGGGCACCAAAGACCTGCAGGATCTGTCTATCTTCATCACCAATGTCACCTACAACCACTCGGGCGACTACGAGTGCCACGTCTACCGCCTGCTCTTCTTCGAAAACTACGAGCACAACACCAGCGTCGTCAAGAAGATCCACATTGAGGTAGTGGACAAAGGTGAGTCGGGTGCTGCCTGCCCCTTTACCGTCACCCACCGGAGAGCCAGATGGAGGGACAGATGGCAGGCAGTGGACAGGACAGGCTGGCTCTGTGCCTGGCCAGCCAACCGCCCACAGCAGCGGGCTGAGGGGGAGGGGAGCAGCCCCTCCTGCCCACTCCAGCTCTGGCCTCTGTTTCTCTCCAGCCCACGGAGAGGTCAAAGCATGCCTGTCCCCCACAGACGCTCCGGGTACAGAACCCAGCTCTGTCACCTGTGCTGTATGACCTCTGGCAGGTGCCTTCTGTCTCTGAGCCAAAGGGTTGTCCTGGGCTTGCCCGGGATAATAATCCGATGTGTTTCTCGGGGTGTGGTTTGAGCCATTCTTCCATCATGGGGTTCATGAGGATTGAGCAGCTGCAGGCACACGCCTGGCTTCCAGCAGAGCCTTGCAGGTGGTGGCGAGGGTGGCGGTTCTTACTGTTCGAGTAGCTCAGCCCTGCTGCCCTCTGTGGTGATGAGGCAAGAGAGCGTGCCACCTAGAGCAGAGTTCCGCACACCCCTCTGCACTCCTGCCCCGGGGGAGCCGCGCTGGCCTGCAGTCTCACTCAACACCTCTGGGGCGGGCCTAGGGGTCCTTTCTAAAGCTCTCAGGTGAGGCAGTGAAGGGCCACAGGTGCGGGGCCCACCCTCTGAGCAGCAAGGGCCTACAGCGCTTTTGAACGTCTCATCATTTTGCCTCAGCCACCCTGGACCCCTTTTCTGAGGGAGGTCCGCCCCTTCTCTGATCCATCTTCTGCTCAGCATCAATTGCAATTGTCCAGCGCCCTGTGGCCACTGGCTTAGAGTTGGGGAAACAGCCCAGGCCTTGAAGCAGCTACAAGCCGTGGCAGAAAGGTCTCTCAGGGCCACGGCACACACATCCTCATGGGCAACACGCACTGCCCATCTTTTCTGTGAGATGGGTGCCGGCCTCAGTGCCTTACACGGAGTCCCTTAGTGAATCCTCTCCCCACCCTCTGGGGTAGGGGCTCTTCCTATCCCCATTTTACGGATGAGAAAACCAAGGCTCAGGGAGGGAAGGTTATGTGGCCAAGGTCATGTGATTGGGAGCTGGACTTGAATCCAGAGGAGCTTGGGTGACTGTGTTTCTGTTCTTGGCATGATTCACTGTACTCTGTGATCAGCCAGAGCCTGTGGGTTTCTTTTTATAATTAGCATTTTTACGTTTATTGTCAAATTGGTGTAGCAGAATGCAATTCAGCAGGCATGTCTGAGCCACTCTGGTGTTTGTCACGATGCTGGGGGGTGGGGGTCACCCGCAGACATGGATGATGGAGCCCCGCCTGCGGAGTTGCTGTGACAAAGATGCCTGCGGTACTGGGACTTTACAAAACCTGTGTTATTGCTCTTGCAAATCTGCAGAGGTGAGATGGGGAGAGGGTGGGAGGCTCCAGGGCACTGTTCAGCCACCCAGGTTCTTTCCATCTTGTTGTTTGGCAGTTGGCCAGGGTGTTGTGTCCTCTGTACGCCGTGACCCAATAGAGCCTCTTTTTTTTTTTTTTTAAATTTAGATTTTTATTTTTTGAGACGGAGTTTTGCTATTATTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCCCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGATATGGAGTTTCCCCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTAATGATCCACCN
benign
302,090
Variant at chromosome 19, position 35033637, gene SCN1B (sodium voltage-gated channel beta subunit 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['Brugada_syndrome_5']
TCAGAGAGACCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAGGCAGAAAGGAGGTGCCAGGTAAGAGTGTGAAGGAATTCTAAGACTGGAATTCAGTGGGCTGCAAAAGCCCTGGGGCAGGAGAGAGCTCAGGAAAGCTTTGAGTAGTGGATGGGGTTGGGGTGGGAAGAGCTCTAGAGGCGAGGAGCCTGGGGAAGAGGGGATGATGGAGGCAGGAGAGGCCGGGGAGGGGATGGCTCACACAGGGGCTTGTGGGCTGTGGAGAGGGGCTGAGTGTGGGTCAGCCCCGGTTTCAGTGCCCACCTCCCCACAATCCCCCACCCCCAGACCTTTTCTCCCAACCCATTTCTCCTGGAGCTAGCTGGTTTTACAATTTAATGGTGAAAATGACTGCCACCTTAAACTTCTAACTTAGCTGGAATTCTCATTCTACCACCTAGATGCTTGGGTTCCTCCAGCAAGGGACTTTCTGAGGAAGGGGCACTCGGGTAGCATAAAGTCTGAGTTACCGGCAACGTTGACAGTCCCACTTATGGGGCCTCCCATGTACAAGGCCCTACCTAATGTATGAAAATGGGCCCAGCCATTGCTGGAAGCAAAGGACCATTTCTTTCAACAAGAGAGAGGGAAACTGAGACTCAGGGATGAATGACTTGCTGAGGTCACGCAGTGAGTGACAGGGCTCAGCCTAGCATCCAGTCCTGTCTGCTGGTAATCATTGAGGGGGGAACAGATGGTTTGTGAGGGGTCTGGCATTGCTTAGGGCAATGGGTGCCTCTGCCTGACCTGAGCCTGCTGTCCCCACAGTGTCCTCAGCCTGCGGGGGCTGCGTGGAGGTGGACTCGGAGACCGAGGCCGTGTATGGGATGACCTTCAAAATTCTTTGCATCTCCTGCAAGCGCCGCAGCGAGACCAACGCTGAGACCTTCACCGAGTGGACCTTCCGCCAGAAGGGCACTGAGGAGTTTGTCAAGGTGTGCGGGTGCCGGGAACGGGCATGGGAGGGCAGGGGTCCACGAGTGGGAGGCGGTGGGGCTGGATCTCAGGGAGGGGGCTTATTTGTTTAATAATATGCTGTGATTGCTGACCTGGATTCAGATTCTGGCTCCACCAGTGGCCAGCTGGTGACCTTGGCCAAGTCAGTGAGCCTCTCTGAAAGTCAGTTTCCTCCTCGGTAAAGACGGGGTGGCGGTGGTCTCTAGCCCATAGGTTTGTGTGAGGACTGAATGCATTGACGCACCTGGCACACGGTTGGCATGAAATAAATGTCAGTGGACTTATTTGGCACCAGCAAACAATGTCTCTGATAGTCATTACGGAGGGAAGACAGAACTGTTTTTTTTAACCTCCTTTAAACTATGTGTGTATTTTGCATTATATATCGGTGAGGGAACCATAAAATTCTGTGACGTGCTGGAGAGTTGGGGTCTCCAGCTGCTGGAATCAGGCTGCCCTGTCTCTGCTGGAGGAGTGTGTCTGGTGGCTGGGAAAGAACGGCAGAGAATGATAGCCTAGAGGCCAGATGGGGCTTGGGAGGATGACTGAGGAACGTGTGTGTGCTCGTGTGCATCTTGGCTAGAGGCAAAAGCGGGGTCTGGTTGACTCCAGGCGTGATCCTAGCCCCCCACCCCTGTGCCCTCCCTGCCTGAGGTCAAGGTGTCTGAGCCCATCTGTGTGCCATCTGTGTTTGTGGGTGTCAGGGCAGGGGACAGAATCAGGGTCAGGTAAGGGAAGAGAGGCCCAGGCAGTGACACCTTCCCCTCCCTGGCTACCCCTAGATCCTGCGCTATGAGAATGAGGTGTTGCAGCTGGAGGAGGATGAGCGCTTCGAGGGCCGCGTGGTGTGGAATGGCAGCCGGGGCACCAAAGACCTGCAGGATCTGTCTATCTTCATCACCAATGTCACCTACAACCACTCGGGCGACTACGAGTGCCACGTCTACCGCCTGCTCTTCTTCGAAAACTACGAGCACAACACCAGCGTCGTCAAGAAGATCCACATTGAGGTAGTGGACAAAGGTGAGTCGGGTGCTGCCTGCCCCTTTACCGTCACCCACCGGAGAGCCAGATGGAGGGACAGATGGCAGGCAGTGGACAGGACAGGCTGGCTCTGTGCCTGGCCAGCCAACCGCCCACAGCAGCGGGCTGAGGGGGAGGGGAGCAGCCCCTCCTGCCCACTCCAGCTCTGGCCTCTGTTTCTCTCCAGCCCACGGAGAGGTCAAAGCATGCCTGTCCCCCACAGACGCTCCGGGTACAGAACCCAGCTCTGTCACCTGTGCTGTATGACCTCTGGCAGGTGCCTTCTGTCTCTGAGCCAAAGGGTTGTCCTGGGCTTGCCCGGGATAATAATCCGATGTGTTTCTCGGGGTGTGGTTTGAGCCATTCTTCCATCATGGGGTTCATGAGGATTGAGCAGCTGCAGGCACACGCCTGGCTTCCAGCAGAGCCTTGCAGGTGGTGGCGAGGGTGGCGGTTCTTACTGTTCGAGTAGCTCAGCCCTGCTGCCCTCTGTGGTGATGAGGCAAGAGAGCGTGCCACCTAGAGCAGAGTTCCGCACACCCCTCTGCACTCCTGCCCCGGGGGAGCCGCGCTGGCCTGCAGTCTCACTCAACACCTCTGGGGCGGGCCTAGGGGTCCTTTCTAAAGCTCTCAGGTGAGGCAGTGAAGGGCCACAGGTGCGGGGCCCACCCTCTGAGCAGCAAGGGCCTACAGCGCTTTTGAACGTCTCATCATTTTGCCTCAGCCACCCTGGACCCCTTTTCTGAGGGAGGTCCGCCCCTTCTCTGATCCATCTTCTGCTCAGCATCAATTGCAATTGTCCAGCGCCCTGTGGCCACTGGCTTAGAGTTGGGGAAACAGCCCAGGCCTTGAAGCAGCTACAAGCCGTGGCAGAAAGGTCTCTCAGGGCCACGGCACACACATCCTCATGGGCAACACGCACTGCCCATCTTTTCTGTGAGATGGGTGCCGGCCTCAGTGCCTTACACGGAGTCCCTTAGTGAATCCTCTCCCCACCCTCTGGGGTAGGGGCTCTTCCTATCCCCATTTTACGGATGAGAAAACCAAGGCTCAGGGAGGGAAGGTTATGTGGCCAAGGTCATGTGATTGGGAGCTGGACTTGAATCCAGAGGAGCTTGGGTGACTGTGTTTCTGTTCTTGGCATGATTCACTGTACTCTGTGATCAGCCAGAGCCTGTGGGTTTCTTTTTATAATTAGCATTTTTACGTTTATTGTCAAATTGGTGTAGCAGAATGCAATTCAGCAGGCATGTCTGAGCCACTCTGGTGTTTGTCACGATGCTGGGGGGTGGGGGTCACCCGCAGACATGGATGATGGAGCCCCGCCTGCGGAGTTGCTGTGACAAAGATGCCTGCGGTACTGGGACTTTACAAAACCTGTGTTATTGCTCTTGCAAATCTGCAGAGGTGAGATGGGGAGAGGGTGGGAGGCTCCAGGGCACTGTTCAGCCACCCAGGTTCTTTCCATCTTGTTGTTTGGCAGTTGGCCAGGGTGTTGTGTCCTCTGTACGCCGTGACCCAATAGAGCCTCTTTTTTTTTTTTTTTAAATTTAGATTTTTATTTTTTGAGACGGAGTTTTGCTATTATTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCCCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGATATGGAGTTTCCCCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTAATGATCCACCTGCCTTGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTGAGCCTCTCTTTTTTAGGATTGCCCACTGTATGACACTACATCCCACAGCCTGTGCTATTACCAGCATTTACCATCATATGCAGTTCCTTA
TCAGAGAGACCCCTGAGAGGGACAAAGATAGGAGGGACTGAGACAGAGGCCCTCAGGGAGTCTGAAAGGGACCGCAGGGGAGGCGGATGGATGAGAAGTCCTGAGGATCAGGAAACAAGGACAGCACAGGGCTGCAGCAGAAGAGACACAGCGTTAGCTACAGAGTGCTGGGAGGCAGAAAGGAGGTGCCAGGTAAGAGTGTGAAGGAATTCTAAGACTGGAATTCAGTGGGCTGCAAAAGCCCTGGGGCAGGAGAGAGCTCAGGAAAGCTTTGAGTAGTGGATGGGGTTGGGGTGGGAAGAGCTCTAGAGGCGAGGAGCCTGGGGAAGAGGGGATGATGGAGGCAGGAGAGGCCGGGGAGGGGATGGCTCACACAGGGGCTTGTGGGCTGTGGAGAGGGGCTGAGTGTGGGTCAGCCCCGGTTTCAGTGCCCACCTCCCCACAATCCCCCACCCCCAGACCTTTTCTCCCAACCCATTTCTCCTGGAGCTAGCTGGTTTTACAATTTAATGGTGAAAATGACTGCCACCTTAAACTTCTAACTTAGCTGGAATTCTCATTCTACCACCTAGATGCTTGGGTTCCTCCAGCAAGGGACTTTCTGAGGAAGGGGCACTCGGGTAGCATAAAGTCTGAGTTACCGGCAACGTTGACAGTCCCACTTATGGGGCCTCCCATGTACAAGGCCCTACCTAATGTATGAAAATGGGCCCAGCCATTGCTGGAAGCAAAGGACCATTTCTTTCAACAAGAGAGAGGGAAACTGAGACTCAGGGATGAATGACTTGCTGAGGTCACGCAGTGAGTGACAGGGCTCAGCCTAGCATCCAGTCCTGTCTGCTGGTAATCATTGAGGGGGGAACAGATGGTTTGTGAGGGGTCTGGCATTGCTTAGGGCAATGGGTGCCTCTGCCTGACCTGAGCCTGCTGTCCCCACAGTGTCCTCAGCCTGCGGGGGCTGCGTGGAGGTGGACTCGGAGACCGAGGCCGTGTATGGGATGACCTTCAAAATTCTTTGCATCTCCTGCAAGCGCCGCAGCGAGACCAACGCTGAGACCTTCACCGAGTGGACCTTCCGCCAGAAGGGCACTGAGGAGTTTGTCAAGGTGTGCGGGTGCCGGGAACGGGCATGGGAGGGCAGGGGTCCACGAGTGGGAGGCGGTGGGGCTGGATCTCAGGGAGGGGGCTTATTTGTTTAATAATATGCTGTGATTGCTGACCTGGATTCAGATTCTGGCTCCACCAGTGGCCAGCTGGTGACCTTGGCCAAGTCAGTGAGCCTCTCTGAAAGTCAGTTTCCTCCTCGGTAAAGACGGGGTGGCGGTGGTCTCTAGCCCATAGGTTTGTGTGAGGACTGAATGCATTGACGCACCTGGCACACGGTTGGCATGAAATAAATGTCAGTGGACTTATTTGGCACCAGCAAACAATGTCTCTGATAGTCATTACGGAGGGAAGACAGAACTGTTTTTTTTAACCTCCTTTAAACTATGTGTGTATTTTGCATTATATATCGGTGAGGGAACCATAAAATTCTGTGACGTGCTGGAGAGTTGGGGTCTCCAGCTGCTGGAATCAGGCTGCCCTGTCTCTGCTGGAGGAGTGTGTCTGGTGGCTGGGAAAGAACGGCAGAGAATGATAGCCTAGAGGCCAGATGGGGCTTGGGAGGATGACTGAGGAACGTGTGTGTGCTCGTGTGCATCTTGGCTAGAGGCAAAAGCGGGGTCTGGTTGACTCCAGGCGTGATCCTAGCCCCCCACCCCTGTGCCCTCCCTGCCTGAGGTCAAGGTGTCTGAGCCCATCTGTGTGCCATCTGTGTTTGTGGGTGTCAGGGCAGGGGACAGAATCAGGGTCAGGTAAGGGAAGAGAGGCCCAGGCAGTGACACCTTCCCCTCCCTGGCTACCCCTAGATCCTGCGCTATGAGAATGAGGTGTTGCAGCTGGAGGAGGATGAGCGCTTCGAGGGCCGCGTGGTGTGGAATGGCAGCCGGGGCACCAAAGACCTGCAGGATCTGTCTATCTTCATCACCAATGTCACCTACAACCACTGGGCGACTACGAGTGCCACGTCTACCGCCTGCTCTTCTTCGAAAACTACGAGCACAACACCAGCGTCGTCAAGAAGATCCACATTGAGGTAGTGGACAAAGGTGAGTCGGGTGCTGCCTGCCCCTTTACCGTCACCCACCGGAGAGCCAGATGGAGGGACAGATGGCAGGCAGTGGACAGGACAGGCTGGCTCTGTGCCTGGCCAGCCAACCGCCCACAGCAGCGGGCTGAGGGGGAGGGGAGCAGCCCCTCCTGCCCACTCCAGCTCTGGCCTCTGTTTCTCTCCAGCCCACGGAGAGGTCAAAGCATGCCTGTCCCCCACAGACGCTCCGGGTACAGAACCCAGCTCTGTCACCTGTGCTGTATGACCTCTGGCAGGTGCCTTCTGTCTCTGAGCCAAAGGGTTGTCCTGGGCTTGCCCGGGATAATAATCCGATGTGTTTCTCGGGGTGTGGTTTGAGCCATTCTTCCATCATGGGGTTCATGAGGATTGAGCAGCTGCAGGCACACGCCTGGCTTCCAGCAGAGCCTTGCAGGTGGTGGCGAGGGTGGCGGTTCTTACTGTTCGAGTAGCTCAGCCCTGCTGCCCTCTGTGGTGATGAGGCAAGAGAGCGTGCCACCTAGAGCAGAGTTCCGCACACCCCTCTGCACTCCTGCCCCGGGGGAGCCGCGCTGGCCTGCAGTCTCACTCAACACCTCTGGGGCGGGCCTAGGGGTCCTTTCTAAAGCTCTCAGGTGAGGCAGTGAAGGGCCACAGGTGCGGGGCCCACCCTCTGAGCAGCAAGGGCCTACAGCGCTTTTGAACGTCTCATCATTTTGCCTCAGCCACCCTGGACCCCTTTTCTGAGGGAGGTCCGCCCCTTCTCTGATCCATCTTCTGCTCAGCATCAATTGCAATTGTCCAGCGCCCTGTGGCCACTGGCTTAGAGTTGGGGAAACAGCCCAGGCCTTGAAGCAGCTACAAGCCGTGGCAGAAAGGTCTCTCAGGGCCACGGCACACACATCCTCATGGGCAACACGCACTGCCCATCTTTTCTGTGAGATGGGTGCCGGCCTCAGTGCCTTACACGGAGTCCCTTAGTGAATCCTCTCCCCACCCTCTGGGGTAGGGGCTCTTCCTATCCCCATTTTACGGATGAGAAAACCAAGGCTCAGGGAGGGAAGGTTATGTGGCCAAGGTCATGTGATTGGGAGCTGGACTTGAATCCAGAGGAGCTTGGGTGACTGTGTTTCTGTTCTTGGCATGATTCACTGTACTCTGTGATCAGCCAGAGCCTGTGGGTTTCTTTTTATAATTAGCATTTTTACGTTTATTGTCAAATTGGTGTAGCAGAATGCAATTCAGCAGGCATGTCTGAGCCACTCTGGTGTTTGTCACGATGCTGGGGGGTGGGGGTCACCCGCAGACATGGATGATGGAGCCCCGCCTGCGGAGTTGCTGTGACAAAGATGCCTGCGGTACTGGGACTTTACAAAACCTGTGTTATTGCTCTTGCAAATCTGCAGAGGTGAGATGGGGAGAGGGTGGGAGGCTCCAGGGCACTGTTCAGCCACCCAGGTTCTTTCCATCTTGTTGTTTGGCAGTTGGCCAGGGTGTTGTGTCCTCTGTACGCCGTGACCCAATAGAGCCTCTTTTTTTTTTTTTTTAAATTTAGATTTTTATTTTTTGAGACGGAGTTTTGCTATTATTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCCCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGATATGGAGTTTCCCCACATTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTAATGATCCACCTGCCTTGGCCTCCCAAGGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTGAGCCTCTCTTTTTTAGGATTGCCCACTGTATGACACTACATCCCACAGCCTGTGCTATTACCAGCATTTACCATCATATGCAGTTCCTTAN
pathogenic
302,102
Mutation found at chromosome 19 position 35718020, gene KMT2B (lysine methyltransferase 2B): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Dystonia_28,_childhood-onset', 'Inborn_genetic_diseases', 'Intellectual_developmental_disorder,_autosomal_dominant_68']
CTGGGGAGATGGAAGAGTCTGATCAGGGGCACACAGGTGAGTCGGGCGGGGGCACTCGTGCCTCAGCCCCACTGTAGCCCTTGATTTCCTGCCTGAATGGTACAGTGAGTTGGCGCTGGGATTCCTGGCCCTGCCCTCCTTTGCCTTCTCTGTCCCCACAGGCGCACTTGCAACCTGTGCGGGTCATGAGGACAAGGCAGGCTGCCCACCTCGCCCGCACCCTCCCCCGGCCCCTCCTGCTCGGTCTCGGCCCTATGCGTGCTCTGTCTGTGGAAAGAGGTTTTCACTCAAGCATCAGATGGAGACGCACTACCGAGTCCACACAGGTATGGGCGCCCTGCCCTGTGTGAACTGTCGGCTTTCTTCCCAACTCCGCTCCTGAGTCTCCACCTGTGTGCCCGGTTCCCGCGCAATCCCCTAGCCCCGTGGCCCGATCCACCCCTAACTTGGCCAGCTTTCGCCGCCTTCTTCCTTCCTTCACCGGCCTCCCCTTCCGACCGCTCTAGGAGAGAAGCCCTTCTCCTGTAGCCTTTGTCCTCAGCGCTCCCGGGACTTCTCGGCCATGACCAAGCACCTGCGGACACACGGGGCCGCTCCGTACCGCTGCTCCCTGTGCGGGGCCGGCTGTCCCAGCCTGGCCTCCATGCAGGCGCACATGCGCGGTCACTCGCCCAGCCAACTCCCGCCCGGATGGACCATCCGCTCCACCTTCCTCTACTCCTCCTCGAGGCCGTCTCGGCCCTCGACCTCTCCCTGTTGTCCTTCTTCCTCCACCACCTGACGGGGTGTCGGTAGCGTCTTAGCCAAGAGTCCAATTAAAGAACGAAAAGCGGGCCGGCTCGGCTTCTGACCTGGCACCGCTGCTACGGCGGCCTAGCAAATTCCGCCCCAGAAGCGCCCCAGGAAGGGCGCCGAGTGCCCTCTCCTGGACGATCGCGGGTCGCAGAAGCCCAGGCCAGCGAGCCCTACAGAGTGAGGACACTGAAGTGTGCAGGAGCGAAGGTTAACAGTAGGGGAGATTGTCGATCTCATCACCATAATAAAGAGTTTCCTGTGCCCTCCCTTCAGGACTAGAAAGCCGAGTTTAGTCTGTGCACACCCCCGCCCACGCCCCTTGTCCTGTAGCGGCCCCTGGTGGCCCTGCGTCCGCTGTCCAGCGGGATGGACACTTCTTCCACCCCCGAGGCGCCCCGTCCTCCCCAGGAGGCAGCCGGCCCCGAGGACTCGGTGTCCGGGCACACCTTGCGGCATGCCGGTCCTGGACTGGTGGGGGCTGTGCGACCGCAAGTCACTCGCCCCTTCCACTGCAATCCACGGCGCGCGGAGTCTGATCTGGGAACGCTCGGCCCGGGAGAGAGAGGAACGCGTGCTCCGACCCTGCTTTCGGCCACCCGCCTCCTCTCCGGGAGCACACGGACCCCGAGACCGCGGCCTCTCCGGCGTCTTCCCTCCACACCGTGCCAAGCCGCCGCCAGGTCGCGCCTGGAACGGAGACTGACTATGCTTTCCACCGCTCCTTCTCCAGCCCACGCCTCCTGCAGCCGCGAACTGCATTTCCCAGGGCCTCGGGGGTCCCGGGGCCCGAGCCCGCGGCACCCTGGGAGTGGTAGTCCACGCGGGCCGCCGGCCTAGCCAAGAACAATGGGAGGAGCCTGGGGCTAGGACCACACCTCCCGGAGACCCGGCAACCCGCTTTCCGGGTCCTGGCCGGGAACCCCGCCGTCCCGGCCCTCGCGCCCTGGCTGCCGGCGGAAGAAGCGAGGCGTCCGGACTACATTTCCCGGAGGCCCCCGCGGTTCGCCCCTCTGCGGCCGCGACGCGGGGGTCTGTGCTCCCCAGGTGCGGTCCGAGGGCGCCGGCCGGCCGCGGACTCCCTCTCCCGTGGTGCCCTGCGCGTGGCCGGCCCGGCCCCCGGTCTCCCGCGGCGGCGCTGGTTGTTGTCGTGCGCCGCGGCCGCCCCGCCCCGCCCCCGCTCTCTCCCCTCCCCCCGGCCCTGCGCACGGGCCGCCCCTCCCCCCGCCTCCCCGGCCCCTCTCACGGTGCCAAGATGGCGGCGGCGGCGGGCGGCGGCAGTTGCCCCGGGCCTGGCTCCGCGCGGGGCCGCTTCCCGGGCCGGCCGCGGGGCGCCGGCGGGGGCGGGGGCCGCGGCGGACGGGGCAACGGGGCCGAAAGAGTGCGGGTAGCTCTGCGGCGCGGCGGTGGCGCGACGGGGCCGGGCGGAGCCGAGCCCGGGGAGGACACGGCCCTGCTCCGTTTGCTGGGGCTCCGCCGGGGCCTGCGCCGGCTCCGCCGCCTGTGGGCCGGCCCGCGGGTCCAGCGGGGCCGGGGACGGGGTCGGGGCCGGGGCTGGGGCCCGAGTCGAGGCTGCGTGCCGGAGGAGGAGAGCAGTGACGGGGAATCCGACGAGGAGGTGAGGCGGTTGGAGGCGTCCCCGGCGCCGGGTGGGGCGGAGGCCGGGGCTTCCAGGGGTCTGGGTTGTCCCGGGGGCGGCGTGGGCAGGCCGGGTCCTCAGGGTTCCTTCGGAGAGACGGGGCACGGAGGGAGGGCGGCTGCATGCAGCTTCCGGGGGAAAGGGCCTCTGGAAGTGGGTAGAGAAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAGCGTGGCCTTGGCAGACAGGTTGGAGCTGTCTGGGCTCTTACCTGTGGGCCGCCCCGCCGGGCCTCGCAACCTCCTGGTTTCTCCAGGGCCCCAGTTTCTCTTGGCATCTCAGGTAGAGTGGTGGAGGGCTTCCTCTTGGGGCTCGGGTTGAACAGGAGTGGGATGAAGGCCGGGACTGGGCACTCTAGCAGGTCAGAGCTCAGCTCAGGATTTCTCCCCCAGCCTTTCAGAACAGGCAGGAAGGTGTGGGTTGCGTTGCCCTGGACGGTTAATAACAACCTGAGAGCTCGCAGTGGAGCCTGTACGAAAGCCATCTGATGCCCTCCCCGCCCCTTCACTTGCGGGCCCCTGTTCCCAACTTAATGCAGAAATAAATTGTGGCCCGAAAGGGTGTCAGTGGAGGTCCCACTTTGGTCTGAATTGGACTCTGAAGGAATCTGAGTATGGGGCCTGCTGCCTTTCCTGAGGAGACCCTGTCGTCTTCTCTCTTGGGCCAGTGAACCATGGCTTTGGCTGTGCTGGTGTGGTCCGGCACTGGGGATCGGAGTTCGAAATACCTGGCGCCTCCATCCCTAGGGAGAGACCCTCTCTTCCACTACCCGCGACCTTTGAGTCTTTTTCGTTCTTTTTAAATAGGCAGGGGTATGCTAAGTGGGAACTGGGGATATTCCTCGATACCTCAGATGGAACGAGGGCTTTGGCACTGACTGCTGTTTCTCCCCTCCACCCCGGTCCCCTAAATCAGGAGTTTCAGGGTTTTCATTCAGATGAAGATGTGGCCCCCAGTTCCCTGCGCTCTGCGCTCCGATCCCAGCGAGGTGAGTGACGGGGGAACTCCACCTCTTTAGCGTCACAGGAATTTATCCTCGCCCTTCGTGTCAGCTCTTCCCTGTTCAACTAGCCTCTGTCAGTTGCCGAATGTGTTCTGTGTTCAGAGTCCAAGCTAGTCTGGGCAGCGGGGGAAACACACAAGCAAGACTTAGTCCCTGCCCTCCTGGAGCGCCTTCCTCTGTGTGTAGGGCTGGCTTGATCCATCTCCCCACAACTATTCTCCTTTTAGGTCGAGCGCCCCGAGGTCGGGGTCGCAAGCATAAGACGACCCCCCTTCCTCCTCCTCGCCTAGCAGATGTGGCTCCTACCCCCCCAAAGACCCCTGCCCGGAAACGGGGTGAGGAAGGCACAGAACGGATGGTGCAGGCACTGACTGAACTTCTCCGGCGGGCCCAGGCACCCCAAGCACCCCGGAGCCGGGCATGTGAGCCCTCCACCCCCCGGCGGTCTCGGGGACGGCCCCCAGGACGGCCAGCAGGCCCCTGCAGGAGGAAGCAGCAAGCAGTAGTGGTG
CTGGGGAGATGGAAGAGTCTGATCAGGGGCACACAGGTGAGTCGGGCGGGGGCACTCGTGCCTCAGCCCCACTGTAGCCCTTGATTTCCTGCCTGAATGGTACAGTGAGTTGGCGCTGGGATTCCTGGCCCTGCCCTCCTTTGCCTTCTCTGTCCCCACAGGCGCACTTGCAACCTGTGCGGGTCATGAGGACAAGGCAGGCTGCCCACCTCGCCCGCACCCTCCCCCGGCCCCTCCTGCTCGGTCTCGGCCCTATGCGTGCTCTGTCTGTGGAAAGAGGTTTTCACTCAAGCATCAGATGGAGACGCACTACCGAGTCCACACAGGTATGGGCGCCCTGCCCTGTGTGAACTGTCGGCTTTCTTCCCAACTCCGCTCCTGAGTCTCCACCTGTGTGCCCGGTTCCCGCGCAATCCCCTAGCCCCGTGGCCCGATCCACCCCTAACTTGGCCAGCTTTCGCCGCCTTCTTCCTTCCTTCACCGGCCTCCCCTTCCGACCGCTCTAGGAGAGAAGCCCTTCTCCTGTAGCCTTTGTCCTCAGCGCTCCCGGGACTTCTCGGCCATGACCAAGCACCTGCGGACACACGGGGCCGCTCCGTACCGCTGCTCCCTGTGCGGGGCCGGCTGTCCCAGCCTGGCCTCCATGCAGGCGCACATGCGCGGTCACTCGCCCAGCCAACTCCCGCCCGGATGGACCATCCGCTCCACCTTCCTCTACTCCTCCTCGAGGCCGTCTCGGCCCTCGACCTCTCCCTGTTGTCCTTCTTCCTCCACCACCTGACGGGGTGTCGGTAGCGTCTTAGCCAAGAGTCCAATTAAAGAACGAAAAGCGGGCCGGCTCGGCTTCTGACCTGGCACCGCTGCTACGGCGGCCTAGCAAATTCCGCCCCAGAAGCGCCCCAGGAAGGGCGCCGAGTGCCCTCTCCTGGACGATCGCGGGTCGCAGAAGCCCAGGCCAGCGAGCCCTACAGAGTGAGGACACTGAAGTGTGCAGGAGCGAAGGTTAACAGTAGGGGAGATTGTCGATCTCATCACCATAATAAAGAGTTTCCTGTGCCCTCCCTTCAGGACTAGAAAGCCGAGTTTAGTCTGTGCACACCCCCGCCCACGCCCCTTGTCCTGTAGCGGCCCCTGGTGGCCCTGCGTCCGCTGTCCAGCGGGATGGACACTTCTTCCACCCCCGAGGCGCCCCGTCCTCCCCAGGAGGCAGCCGGCCCCGAGGACTCGGTGTCCGGGCACACCTTGCGGCATGCCGGTCCTGGACTGGTGGGGGCTGTGCGACCGCAAGTCACTCGCCCCTTCCACTGCAATCCACGGCGCGCGGAGTCTGATCTGGGAACGCTCGGCCCGGGAGAGAGAGGAACGCGTGCTCCGACCCTGCTTTCGGCCACCCGCCTCCTCTCCGGGAGCACACGGACCCCGAGACCGCGGCCTCTCCGGCGTCTTCCCTCCACACCGTGCCAAGCCGCCGCCAGGTCGCGCCTGGAACGGAGACTGACTATGCTTTCCACCGCTCCTTCTCCAGCCCACGCCTCCTGCAGCCGCGAACTGCATTTCCCAGGGCCTCGGGGGTCCCGGGGCCCGAGCCCGCGGCACCCTGGGAGTGGTAGTCCACGCGGGCCGCCGGCCTAGCCAAGAACAATGGGAGGAGCCTGGGGCTAGGACCACACCTCCCGGAGACCCGGCAACCCGCTTTCCGGGTCCTGGCCGGGAACCCCGCCGTCCCGGCCCTCGCGCCCTGGCTGCCGGCGGAAGAAGCGAGGCGTCCGGACTACATTTCCCGGAGGCCCCCGCGGTTCGCCCCTCTGCGGCCGCGACGCGGGGGTCTGTGCTCCCCAGGTGCGGTCCGAGGGCGCCGGCCGGCCGCGGACTCCCTCTCCCGTGGTGCCCTGCGCGTGGCCGGCCCGGCCCCCGGTCTCCCGCGGCGGCGCTGGTTGTTGTCGTGCGCCGCGGCCGCCCCGCCCCGCCCCCGCTCTCTCCCCTCCCCCCGGCCCTGCGCACGGGCCGCCCCTCCCCCCGCCTCCCCGGCCCCTCTCACGGTGCCAAGATGGCGGCGGCGGCGGGCGGCGGCGGCGGGCGGCGGCAGTTGCCCCGGGCCTGGCTCCGCGCGGGGCCGCTTCCCGGGCCGGCCGCGGGGCGCCGGCGGGGGCGGGGGCCGCGGCGGACGGGGCAACGGGGCCGAAAGAGTGCGGGTAGCTCTGCGGCGCGGCGGTGGCGCGACGGGGCCGGGCGGAGCCGAGCCCGGGGAGGACACGGCCCTGCTCCGTTTGCTGGGGCTCCGCCGGGGCCTGCGCCGGCTCCGCCGCCTGTGGGCCGGCCCGCGGGTCCAGCGGGGCCGGGGACGGGGTCGGGGCCGGGGCTGGGGCCCGAGTCGAGGCTGCGTGCCGGAGGAGGAGAGCAGTGACGGGGAATCCGACGAGGAGGTGAGGCGGTTGGAGGCGTCCCCGGCGCCGGGTGGGGCGGAGGCCGGGGCTTCCAGGGGTCTGGGTTGTCCCGGGGGCGGCGTGGGCAGGCCGGGTCCTCAGGGTTCCTTCGGAGAGACGGGGCACGGAGGGAGGGCGGCTGCATGCAGCTTCCGGGGGAAAGGGCCTCTGGAAGTGGGTAGAGAAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAGCGTGGCCTTGGCAGACAGGTTGGAGCTGTCTGGGCTCTTACCTGTGGGCCGCCCCGCCGGGCCTCGCAACCTCCTGGTTTCTCCAGGGCCCCAGTTTCTCTTGGCATCTCAGGTAGAGTGGTGGAGGGCTTCCTCTTGGGGCTCGGGTTGAACAGGAGTGGGATGAAGGCCGGGACTGGGCACTCTAGCAGGTCAGAGCTCAGCTCAGGATTTCTCCCCCAGCCTTTCAGAACAGGCAGGAAGGTGTGGGTTGCGTTGCCCTGGACGGTTAATAACAACCTGAGAGCTCGCAGTGGAGCCTGTACGAAAGCCATCTGATGCCCTCCCCGCCCCTTCACTTGCGGGCCCCTGTTCCCAACTTAATGCAGAAATAAATTGTGGCCCGAAAGGGTGTCAGTGGAGGTCCCACTTTGGTCTGAATTGGACTCTGAAGGAATCTGAGTATGGGGCCTGCTGCCTTTCCTGAGGAGACCCTGTCGTCTTCTCTCTTGGGCCAGTGAACCATGGCTTTGGCTGTGCTGGTGTGGTCCGGCACTGGGGATCGGAGTTCGAAATACCTGGCGCCTCCATCCCTAGGGAGAGACCCTCTCTTCCACTACCCGCGACCTTTGAGTCTTTTTCGTTCTTTTTAAATAGGCAGGGGTATGCTAAGTGGGAACTGGGGATATTCCTCGATACCTCAGATGGAACGAGGGCTTTGGCACTGACTGCTGTTTCTCCCCTCCACCCCGGTCCCCTAAATCAGGAGTTTCAGGGTTTTCATTCAGATGAAGATGTGGCCCCCAGTTCCCTGCGCTCTGCGCTCCGATCCCAGCGAGGTGAGTGACGGGGGAACTCCACCTCTTTAGCGTCACAGGAATTTATCCTCGCCCTTCGTGTCAGCTCTTCCCTGTTCAACTAGCCTCTGTCAGTTGCCGAATGTGTTCTGTGTTCAGAGTCCAAGCTAGTCTGGGCAGCGGGGGAAACACACAAGCAAGACTTAGTCCCTGCCCTCCTGGAGCGCCTTCCTCTGTGTGTAGGGCTGGCTTGATCCATCTCCCCACAACTATTCTCCTTTTAGGTCGAGCGCCCCGAGGTCGGGGTCGCAAGCATAAGACGACCCCCCTTCCTCCTCCTCGCCTAGCAGATGTGGCTCCTACCCCCCCAAAGACCCCTGCCCGGAAACGGGGTGAGGAAGGCACAGAACGGATGGTGCAGGCACTGACTGAACTTCTCCGGCGGGCCCAGGCACCCCAAGCACCCCGGAGCCGGGCATGTGAGCCCTCCACCCCCCGGCGGTCTCGGGGACGGCCCCCAGGACGGCCAGCAGGCCCCTGCAGGAGGAAGCAGCA
pathogenic
302,264
Does the chromosome 19 mutation at position 35718023 within gene KMT2B (lysine methyltransferase 2B) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Dystonia_28,_childhood-onset', 'Intellectual_developmental_disorder,_autosomal_dominant_68']
GGGAGATGGAAGAGTCTGATCAGGGGCACACAGGTGAGTCGGGCGGGGGCACTCGTGCCTCAGCCCCACTGTAGCCCTTGATTTCCTGCCTGAATGGTACAGTGAGTTGGCGCTGGGATTCCTGGCCCTGCCCTCCTTTGCCTTCTCTGTCCCCACAGGCGCACTTGCAACCTGTGCGGGTCATGAGGACAAGGCAGGCTGCCCACCTCGCCCGCACCCTCCCCCGGCCCCTCCTGCTCGGTCTCGGCCCTATGCGTGCTCTGTCTGTGGAAAGAGGTTTTCACTCAAGCATCAGATGGAGACGCACTACCGAGTCCACACAGGTATGGGCGCCCTGCCCTGTGTGAACTGTCGGCTTTCTTCCCAACTCCGCTCCTGAGTCTCCACCTGTGTGCCCGGTTCCCGCGCAATCCCCTAGCCCCGTGGCCCGATCCACCCCTAACTTGGCCAGCTTTCGCCGCCTTCTTCCTTCCTTCACCGGCCTCCCCTTCCGACCGCTCTAGGAGAGAAGCCCTTCTCCTGTAGCCTTTGTCCTCAGCGCTCCCGGGACTTCTCGGCCATGACCAAGCACCTGCGGACACACGGGGCCGCTCCGTACCGCTGCTCCCTGTGCGGGGCCGGCTGTCCCAGCCTGGCCTCCATGCAGGCGCACATGCGCGGTCACTCGCCCAGCCAACTCCCGCCCGGATGGACCATCCGCTCCACCTTCCTCTACTCCTCCTCGAGGCCGTCTCGGCCCTCGACCTCTCCCTGTTGTCCTTCTTCCTCCACCACCTGACGGGGTGTCGGTAGCGTCTTAGCCAAGAGTCCAATTAAAGAACGAAAAGCGGGCCGGCTCGGCTTCTGACCTGGCACCGCTGCTACGGCGGCCTAGCAAATTCCGCCCCAGAAGCGCCCCAGGAAGGGCGCCGAGTGCCCTCTCCTGGACGATCGCGGGTCGCAGAAGCCCAGGCCAGCGAGCCCTACAGAGTGAGGACACTGAAGTGTGCAGGAGCGAAGGTTAACAGTAGGGGAGATTGTCGATCTCATCACCATAATAAAGAGTTTCCTGTGCCCTCCCTTCAGGACTAGAAAGCCGAGTTTAGTCTGTGCACACCCCCGCCCACGCCCCTTGTCCTGTAGCGGCCCCTGGTGGCCCTGCGTCCGCTGTCCAGCGGGATGGACACTTCTTCCACCCCCGAGGCGCCCCGTCCTCCCCAGGAGGCAGCCGGCCCCGAGGACTCGGTGTCCGGGCACACCTTGCGGCATGCCGGTCCTGGACTGGTGGGGGCTGTGCGACCGCAAGTCACTCGCCCCTTCCACTGCAATCCACGGCGCGCGGAGTCTGATCTGGGAACGCTCGGCCCGGGAGAGAGAGGAACGCGTGCTCCGACCCTGCTTTCGGCCACCCGCCTCCTCTCCGGGAGCACACGGACCCCGAGACCGCGGCCTCTCCGGCGTCTTCCCTCCACACCGTGCCAAGCCGCCGCCAGGTCGCGCCTGGAACGGAGACTGACTATGCTTTCCACCGCTCCTTCTCCAGCCCACGCCTCCTGCAGCCGCGAACTGCATTTCCCAGGGCCTCGGGGGTCCCGGGGCCCGAGCCCGCGGCACCCTGGGAGTGGTAGTCCACGCGGGCCGCCGGCCTAGCCAAGAACAATGGGAGGAGCCTGGGGCTAGGACCACACCTCCCGGAGACCCGGCAACCCGCTTTCCGGGTCCTGGCCGGGAACCCCGCCGTCCCGGCCCTCGCGCCCTGGCTGCCGGCGGAAGAAGCGAGGCGTCCGGACTACATTTCCCGGAGGCCCCCGCGGTTCGCCCCTCTGCGGCCGCGACGCGGGGGTCTGTGCTCCCCAGGTGCGGTCCGAGGGCGCCGGCCGGCCGCGGACTCCCTCTCCCGTGGTGCCCTGCGCGTGGCCGGCCCGGCCCCCGGTCTCCCGCGGCGGCGCTGGTTGTTGTCGTGCGCCGCGGCCGCCCCGCCCCGCCCCCGCTCTCTCCCCTCCCCCCGGCCCTGCGCACGGGCCGCCCCTCCCCCCGCCTCCCCGGCCCCTCTCACGGTGCCAAGATGGCGGCGGCGGCGGGCGGCGGCAGTTGCCCCGGGCCTGGCTCCGCGCGGGGCCGCTTCCCGGGCCGGCCGCGGGGCGCCGGCGGGGGCGGGGGCCGCGGCGGACGGGGCAACGGGGCCGAAAGAGTGCGGGTAGCTCTGCGGCGCGGCGGTGGCGCGACGGGGCCGGGCGGAGCCGAGCCCGGGGAGGACACGGCCCTGCTCCGTTTGCTGGGGCTCCGCCGGGGCCTGCGCCGGCTCCGCCGCCTGTGGGCCGGCCCGCGGGTCCAGCGGGGCCGGGGACGGGGTCGGGGCCGGGGCTGGGGCCCGAGTCGAGGCTGCGTGCCGGAGGAGGAGAGCAGTGACGGGGAATCCGACGAGGAGGTGAGGCGGTTGGAGGCGTCCCCGGCGCCGGGTGGGGCGGAGGCCGGGGCTTCCAGGGGTCTGGGTTGTCCCGGGGGCGGCGTGGGCAGGCCGGGTCCTCAGGGTTCCTTCGGAGAGACGGGGCACGGAGGGAGGGCGGCTGCATGCAGCTTCCGGGGGAAAGGGCCTCTGGAAGTGGGTAGAGAAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAGCGTGGCCTTGGCAGACAGGTTGGAGCTGTCTGGGCTCTTACCTGTGGGCCGCCCCGCCGGGCCTCGCAACCTCCTGGTTTCTCCAGGGCCCCAGTTTCTCTTGGCATCTCAGGTAGAGTGGTGGAGGGCTTCCTCTTGGGGCTCGGGTTGAACAGGAGTGGGATGAAGGCCGGGACTGGGCACTCTAGCAGGTCAGAGCTCAGCTCAGGATTTCTCCCCCAGCCTTTCAGAACAGGCAGGAAGGTGTGGGTTGCGTTGCCCTGGACGGTTAATAACAACCTGAGAGCTCGCAGTGGAGCCTGTACGAAAGCCATCTGATGCCCTCCCCGCCCCTTCACTTGCGGGCCCCTGTTCCCAACTTAATGCAGAAATAAATTGTGGCCCGAAAGGGTGTCAGTGGAGGTCCCACTTTGGTCTGAATTGGACTCTGAAGGAATCTGAGTATGGGGCCTGCTGCCTTTCCTGAGGAGACCCTGTCGTCTTCTCTCTTGGGCCAGTGAACCATGGCTTTGGCTGTGCTGGTGTGGTCCGGCACTGGGGATCGGAGTTCGAAATACCTGGCGCCTCCATCCCTAGGGAGAGACCCTCTCTTCCACTACCCGCGACCTTTGAGTCTTTTTCGTTCTTTTTAAATAGGCAGGGGTATGCTAAGTGGGAACTGGGGATATTCCTCGATACCTCAGATGGAACGAGGGCTTTGGCACTGACTGCTGTTTCTCCCCTCCACCCCGGTCCCCTAAATCAGGAGTTTCAGGGTTTTCATTCAGATGAAGATGTGGCCCCCAGTTCCCTGCGCTCTGCGCTCCGATCCCAGCGAGGTGAGTGACGGGGGAACTCCACCTCTTTAGCGTCACAGGAATTTATCCTCGCCCTTCGTGTCAGCTCTTCCCTGTTCAACTAGCCTCTGTCAGTTGCCGAATGTGTTCTGTGTTCAGAGTCCAAGCTAGTCTGGGCAGCGGGGGAAACACACAAGCAAGACTTAGTCCCTGCCCTCCTGGAGCGCCTTCCTCTGTGTGTAGGGCTGGCTTGATCCATCTCCCCACAACTATTCTCCTTTTAGGTCGAGCGCCCCGAGGTCGGGGTCGCAAGCATAAGACGACCCCCCTTCCTCCTCCTCGCCTAGCAGATGTGGCTCCTACCCCCCCAAAGACCCCTGCCCGGAAACGGGGTGAGGAAGGCACAGAACGGATGGTGCAGGCACTGACTGAACTTCTCCGGCGGGCCCAGGCACCCCAAGCACCCCGGAGCCGGGCATGTGAGCCCTCCACCCCCCGGCGGTCTCGGGGACGGCCCCCAGGACGGCCAGCAGGCCCCTGCAGGAGGAAGCAGCAAGCAGTAGTGGTGGCA
GGGAGATGGAAGAGTCTGATCAGGGGCACACAGGTGAGTCGGGCGGGGGCACTCGTGCCTCAGCCCCACTGTAGCCCTTGATTTCCTGCCTGAATGGTACAGTGAGTTGGCGCTGGGATTCCTGGCCCTGCCCTCCTTTGCCTTCTCTGTCCCCACAGGCGCACTTGCAACCTGTGCGGGTCATGAGGACAAGGCAGGCTGCCCACCTCGCCCGCACCCTCCCCCGGCCCCTCCTGCTCGGTCTCGGCCCTATGCGTGCTCTGTCTGTGGAAAGAGGTTTTCACTCAAGCATCAGATGGAGACGCACTACCGAGTCCACACAGGTATGGGCGCCCTGCCCTGTGTGAACTGTCGGCTTTCTTCCCAACTCCGCTCCTGAGTCTCCACCTGTGTGCCCGGTTCCCGCGCAATCCCCTAGCCCCGTGGCCCGATCCACCCCTAACTTGGCCAGCTTTCGCCGCCTTCTTCCTTCCTTCACCGGCCTCCCCTTCCGACCGCTCTAGGAGAGAAGCCCTTCTCCTGTAGCCTTTGTCCTCAGCGCTCCCGGGACTTCTCGGCCATGACCAAGCACCTGCGGACACACGGGGCCGCTCCGTACCGCTGCTCCCTGTGCGGGGCCGGCTGTCCCAGCCTGGCCTCCATGCAGGCGCACATGCGCGGTCACTCGCCCAGCCAACTCCCGCCCGGATGGACCATCCGCTCCACCTTCCTCTACTCCTCCTCGAGGCCGTCTCGGCCCTCGACCTCTCCCTGTTGTCCTTCTTCCTCCACCACCTGACGGGGTGTCGGTAGCGTCTTAGCCAAGAGTCCAATTAAAGAACGAAAAGCGGGCCGGCTCGGCTTCTGACCTGGCACCGCTGCTACGGCGGCCTAGCAAATTCCGCCCCAGAAGCGCCCCAGGAAGGGCGCCGAGTGCCCTCTCCTGGACGATCGCGGGTCGCAGAAGCCCAGGCCAGCGAGCCCTACAGAGTGAGGACACTGAAGTGTGCAGGAGCGAAGGTTAACAGTAGGGGAGATTGTCGATCTCATCACCATAATAAAGAGTTTCCTGTGCCCTCCCTTCAGGACTAGAAAGCCGAGTTTAGTCTGTGCACACCCCCGCCCACGCCCCTTGTCCTGTAGCGGCCCCTGGTGGCCCTGCGTCCGCTGTCCAGCGGGATGGACACTTCTTCCACCCCCGAGGCGCCCCGTCCTCCCCAGGAGGCAGCCGGCCCCGAGGACTCGGTGTCCGGGCACACCTTGCGGCATGCCGGTCCTGGACTGGTGGGGGCTGTGCGACCGCAAGTCACTCGCCCCTTCCACTGCAATCCACGGCGCGCGGAGTCTGATCTGGGAACGCTCGGCCCGGGAGAGAGAGGAACGCGTGCTCCGACCCTGCTTTCGGCCACCCGCCTCCTCTCCGGGAGCACACGGACCCCGAGACCGCGGCCTCTCCGGCGTCTTCCCTCCACACCGTGCCAAGCCGCCGCCAGGTCGCGCCTGGAACGGAGACTGACTATGCTTTCCACCGCTCCTTCTCCAGCCCACGCCTCCTGCAGCCGCGAACTGCATTTCCCAGGGCCTCGGGGGTCCCGGGGCCCGAGCCCGCGGCACCCTGGGAGTGGTAGTCCACGCGGGCCGCCGGCCTAGCCAAGAACAATGGGAGGAGCCTGGGGCTAGGACCACACCTCCCGGAGACCCGGCAACCCGCTTTCCGGGTCCTGGCCGGGAACCCCGCCGTCCCGGCCCTCGCGCCCTGGCTGCCGGCGGAAGAAGCGAGGCGTCCGGACTACATTTCCCGGAGGCCCCCGCGGTTCGCCCCTCTGCGGCCGCGACGCGGGGGTCTGTGCTCCCCAGGTGCGGTCCGAGGGCGCCGGCCGGCCGCGGACTCCCTCTCCCGTGGTGCCCTGCGCGTGGCCGGCCCGGCCCCCGGTCTCCCGCGGCGGCGCTGGTTGTTGTCGTGCGCCGCGGCCGCCCCGCCCCGCCCCCGCTCTCTCCCCTCCCCCCGGCCCTGCGCACGGGCCGCCCCTCCCCCCGCCTCCCCGGCCCCTCTCACGGTGCCAAGATGGCGGCGGCGGCGGGCGGCGGCGGGCGGCGGCAGTTGCCCCGGGCCTGGCTCCGCGCGGGGCCGCTTCCCGGGCCGGCCGCGGGGCGCCGGCGGGGGCGGGGGCCGCGGCGGACGGGGCAACGGGGCCGAAAGAGTGCGGGTAGCTCTGCGGCGCGGCGGTGGCGCGACGGGGCCGGGCGGAGCCGAGCCCGGGGAGGACACGGCCCTGCTCCGTTTGCTGGGGCTCCGCCGGGGCCTGCGCCGGCTCCGCCGCCTGTGGGCCGGCCCGCGGGTCCAGCGGGGCCGGGGACGGGGTCGGGGCCGGGGCTGGGGCCCGAGTCGAGGCTGCGTGCCGGAGGAGGAGAGCAGTGACGGGGAATCCGACGAGGAGGTGAGGCGGTTGGAGGCGTCCCCGGCGCCGGGTGGGGCGGAGGCCGGGGCTTCCAGGGGTCTGGGTTGTCCCGGGGGCGGCGTGGGCAGGCCGGGTCCTCAGGGTTCCTTCGGAGAGACGGGGCACGGAGGGAGGGCGGCTGCATGCAGCTTCCGGGGGAAAGGGCCTCTGGAAGTGGGTAGAGAAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAGCGTGGCCTTGGCAGACAGGTTGGAGCTGTCTGGGCTCTTACCTGTGGGCCGCCCCGCCGGGCCTCGCAACCTCCTGGTTTCTCCAGGGCCCCAGTTTCTCTTGGCATCTCAGGTAGAGTGGTGGAGGGCTTCCTCTTGGGGCTCGGGTTGAACAGGAGTGGGATGAAGGCCGGGACTGGGCACTCTAGCAGGTCAGAGCTCAGCTCAGGATTTCTCCCCCAGCCTTTCAGAACAGGCAGGAAGGTGTGGGTTGCGTTGCCCTGGACGGTTAATAACAACCTGAGAGCTCGCAGTGGAGCCTGTACGAAAGCCATCTGATGCCCTCCCCGCCCCTTCACTTGCGGGCCCCTGTTCCCAACTTAATGCAGAAATAAATTGTGGCCCGAAAGGGTGTCAGTGGAGGTCCCACTTTGGTCTGAATTGGACTCTGAAGGAATCTGAGTATGGGGCCTGCTGCCTTTCCTGAGGAGACCCTGTCGTCTTCTCTCTTGGGCCAGTGAACCATGGCTTTGGCTGTGCTGGTGTGGTCCGGCACTGGGGATCGGAGTTCGAAATACCTGGCGCCTCCATCCCTAGGGAGAGACCCTCTCTTCCACTACCCGCGACCTTTGAGTCTTTTTCGTTCTTTTTAAATAGGCAGGGGTATGCTAAGTGGGAACTGGGGATATTCCTCGATACCTCAGATGGAACGAGGGCTTTGGCACTGACTGCTGTTTCTCCCCTCCACCCCGGTCCCCTAAATCAGGAGTTTCAGGGTTTTCATTCAGATGAAGATGTGGCCCCCAGTTCCCTGCGCTCTGCGCTCCGATCCCAGCGAGGTGAGTGACGGGGGAACTCCACCTCTTTAGCGTCACAGGAATTTATCCTCGCCCTTCGTGTCAGCTCTTCCCTGTTCAACTAGCCTCTGTCAGTTGCCGAATGTGTTCTGTGTTCAGAGTCCAAGCTAGTCTGGGCAGCGGGGGAAACACACAAGCAAGACTTAGTCCCTGCCCTCCTGGAGCGCCTTCCTCTGTGTGTAGGGCTGGCTTGATCCATCTCCCCACAACTATTCTCCTTTTAGGTCGAGCGCCCCGAGGTCGGGGTCGCAAGCATAAGACGACCCCCCTTCCTCCTCCTCGCCTAGCAGATGTGGCTCCTACCCCCCCAAAGACCCCTGCCCGGAAACGGGGTGAGGAAGGCACAGAACGGATGGTGCAGGCACTGACTGAACTTCTCCGGCGGGCCCAGGCACCCCAAGCACCCCGGAGCCGGGCATGTGAGCCCTCCACCCCCCGGCGGTCTCGGGGACGGCCCCCAGGACGGCCAGCAGGCCCCTGCAGGAGGAAGCAGCAAGCAGT
pathogenic
302,265
Variant in KMT2B (lysine methyltransferase 2B), chromosome 19, position 35718026—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic
AGATGGAAGAGTCTGATCAGGGGCACACAGGTGAGTCGGGCGGGGGCACTCGTGCCTCAGCCCCACTGTAGCCCTTGATTTCCTGCCTGAATGGTACAGTGAGTTGGCGCTGGGATTCCTGGCCCTGCCCTCCTTTGCCTTCTCTGTCCCCACAGGCGCACTTGCAACCTGTGCGGGTCATGAGGACAAGGCAGGCTGCCCACCTCGCCCGCACCCTCCCCCGGCCCCTCCTGCTCGGTCTCGGCCCTATGCGTGCTCTGTCTGTGGAAAGAGGTTTTCACTCAAGCATCAGATGGAGACGCACTACCGAGTCCACACAGGTATGGGCGCCCTGCCCTGTGTGAACTGTCGGCTTTCTTCCCAACTCCGCTCCTGAGTCTCCACCTGTGTGCCCGGTTCCCGCGCAATCCCCTAGCCCCGTGGCCCGATCCACCCCTAACTTGGCCAGCTTTCGCCGCCTTCTTCCTTCCTTCACCGGCCTCCCCTTCCGACCGCTCTAGGAGAGAAGCCCTTCTCCTGTAGCCTTTGTCCTCAGCGCTCCCGGGACTTCTCGGCCATGACCAAGCACCTGCGGACACACGGGGCCGCTCCGTACCGCTGCTCCCTGTGCGGGGCCGGCTGTCCCAGCCTGGCCTCCATGCAGGCGCACATGCGCGGTCACTCGCCCAGCCAACTCCCGCCCGGATGGACCATCCGCTCCACCTTCCTCTACTCCTCCTCGAGGCCGTCTCGGCCCTCGACCTCTCCCTGTTGTCCTTCTTCCTCCACCACCTGACGGGGTGTCGGTAGCGTCTTAGCCAAGAGTCCAATTAAAGAACGAAAAGCGGGCCGGCTCGGCTTCTGACCTGGCACCGCTGCTACGGCGGCCTAGCAAATTCCGCCCCAGAAGCGCCCCAGGAAGGGCGCCGAGTGCCCTCTCCTGGACGATCGCGGGTCGCAGAAGCCCAGGCCAGCGAGCCCTACAGAGTGAGGACACTGAAGTGTGCAGGAGCGAAGGTTAACAGTAGGGGAGATTGTCGATCTCATCACCATAATAAAGAGTTTCCTGTGCCCTCCCTTCAGGACTAGAAAGCCGAGTTTAGTCTGTGCACACCCCCGCCCACGCCCCTTGTCCTGTAGCGGCCCCTGGTGGCCCTGCGTCCGCTGTCCAGCGGGATGGACACTTCTTCCACCCCCGAGGCGCCCCGTCCTCCCCAGGAGGCAGCCGGCCCCGAGGACTCGGTGTCCGGGCACACCTTGCGGCATGCCGGTCCTGGACTGGTGGGGGCTGTGCGACCGCAAGTCACTCGCCCCTTCCACTGCAATCCACGGCGCGCGGAGTCTGATCTGGGAACGCTCGGCCCGGGAGAGAGAGGAACGCGTGCTCCGACCCTGCTTTCGGCCACCCGCCTCCTCTCCGGGAGCACACGGACCCCGAGACCGCGGCCTCTCCGGCGTCTTCCCTCCACACCGTGCCAAGCCGCCGCCAGGTCGCGCCTGGAACGGAGACTGACTATGCTTTCCACCGCTCCTTCTCCAGCCCACGCCTCCTGCAGCCGCGAACTGCATTTCCCAGGGCCTCGGGGGTCCCGGGGCCCGAGCCCGCGGCACCCTGGGAGTGGTAGTCCACGCGGGCCGCCGGCCTAGCCAAGAACAATGGGAGGAGCCTGGGGCTAGGACCACACCTCCCGGAGACCCGGCAACCCGCTTTCCGGGTCCTGGCCGGGAACCCCGCCGTCCCGGCCCTCGCGCCCTGGCTGCCGGCGGAAGAAGCGAGGCGTCCGGACTACATTTCCCGGAGGCCCCCGCGGTTCGCCCCTCTGCGGCCGCGACGCGGGGGTCTGTGCTCCCCAGGTGCGGTCCGAGGGCGCCGGCCGGCCGCGGACTCCCTCTCCCGTGGTGCCCTGCGCGTGGCCGGCCCGGCCCCCGGTCTCCCGCGGCGGCGCTGGTTGTTGTCGTGCGCCGCGGCCGCCCCGCCCCGCCCCCGCTCTCTCCCCTCCCCCCGGCCCTGCGCACGGGCCGCCCCTCCCCCCGCCTCCCCGGCCCCTCTCACGGTGCCAAGATGGCGGCGGCGGCGGGCGGCGGCAGTTGCCCCGGGCCTGGCTCCGCGCGGGGCCGCTTCCCGGGCCGGCCGCGGGGCGCCGGCGGGGGCGGGGGCCGCGGCGGACGGGGCAACGGGGCCGAAAGAGTGCGGGTAGCTCTGCGGCGCGGCGGTGGCGCGACGGGGCCGGGCGGAGCCGAGCCCGGGGAGGACACGGCCCTGCTCCGTTTGCTGGGGCTCCGCCGGGGCCTGCGCCGGCTCCGCCGCCTGTGGGCCGGCCCGCGGGTCCAGCGGGGCCGGGGACGGGGTCGGGGCCGGGGCTGGGGCCCGAGTCGAGGCTGCGTGCCGGAGGAGGAGAGCAGTGACGGGGAATCCGACGAGGAGGTGAGGCGGTTGGAGGCGTCCCCGGCGCCGGGTGGGGCGGAGGCCGGGGCTTCCAGGGGTCTGGGTTGTCCCGGGGGCGGCGTGGGCAGGCCGGGTCCTCAGGGTTCCTTCGGAGAGACGGGGCACGGAGGGAGGGCGGCTGCATGCAGCTTCCGGGGGAAAGGGCCTCTGGAAGTGGGTAGAGAAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAGCGTGGCCTTGGCAGACAGGTTGGAGCTGTCTGGGCTCTTACCTGTGGGCCGCCCCGCCGGGCCTCGCAACCTCCTGGTTTCTCCAGGGCCCCAGTTTCTCTTGGCATCTCAGGTAGAGTGGTGGAGGGCTTCCTCTTGGGGCTCGGGTTGAACAGGAGTGGGATGAAGGCCGGGACTGGGCACTCTAGCAGGTCAGAGCTCAGCTCAGGATTTCTCCCCCAGCCTTTCAGAACAGGCAGGAAGGTGTGGGTTGCGTTGCCCTGGACGGTTAATAACAACCTGAGAGCTCGCAGTGGAGCCTGTACGAAAGCCATCTGATGCCCTCCCCGCCCCTTCACTTGCGGGCCCCTGTTCCCAACTTAATGCAGAAATAAATTGTGGCCCGAAAGGGTGTCAGTGGAGGTCCCACTTTGGTCTGAATTGGACTCTGAAGGAATCTGAGTATGGGGCCTGCTGCCTTTCCTGAGGAGACCCTGTCGTCTTCTCTCTTGGGCCAGTGAACCATGGCTTTGGCTGTGCTGGTGTGGTCCGGCACTGGGGATCGGAGTTCGAAATACCTGGCGCCTCCATCCCTAGGGAGAGACCCTCTCTTCCACTACCCGCGACCTTTGAGTCTTTTTCGTTCTTTTTAAATAGGCAGGGGTATGCTAAGTGGGAACTGGGGATATTCCTCGATACCTCAGATGGAACGAGGGCTTTGGCACTGACTGCTGTTTCTCCCCTCCACCCCGGTCCCCTAAATCAGGAGTTTCAGGGTTTTCATTCAGATGAAGATGTGGCCCCCAGTTCCCTGCGCTCTGCGCTCCGATCCCAGCGAGGTGAGTGACGGGGGAACTCCACCTCTTTAGCGTCACAGGAATTTATCCTCGCCCTTCGTGTCAGCTCTTCCCTGTTCAACTAGCCTCTGTCAGTTGCCGAATGTGTTCTGTGTTCAGAGTCCAAGCTAGTCTGGGCAGCGGGGGAAACACACAAGCAAGACTTAGTCCCTGCCCTCCTGGAGCGCCTTCCTCTGTGTGTAGGGCTGGCTTGATCCATCTCCCCACAACTATTCTCCTTTTAGGTCGAGCGCCCCGAGGTCGGGGTCGCAAGCATAAGACGACCCCCCTTCCTCCTCCTCGCCTAGCAGATGTGGCTCCTACCCCCCCAAAGACCCCTGCCCGGAAACGGGGTGAGGAAGGCACAGAACGGATGGTGCAGGCACTGACTGAACTTCTCCGGCGGGCCCAGGCACCCCAAGCACCCCGGAGCCGGGCATGTGAGCCCTCCACCCCCCGGCGGTCTCGGGGACGGCCCCCAGGACGGCCAGCAGGCCCCTGCAGGAGGAAGCAGCAAGCAGTAGTGGTGGCAGAA
AGATGGAAGAGTCTGATCAGGGGCACACAGGTGAGTCGGGCGGGGGCACTCGTGCCTCAGCCCCACTGTAGCCCTTGATTTCCTGCCTGAATGGTACAGTGAGTTGGCGCTGGGATTCCTGGCCCTGCCCTCCTTTGCCTTCTCTGTCCCCACAGGCGCACTTGCAACCTGTGCGGGTCATGAGGACAAGGCAGGCTGCCCACCTCGCCCGCACCCTCCCCCGGCCCCTCCTGCTCGGTCTCGGCCCTATGCGTGCTCTGTCTGTGGAAAGAGGTTTTCACTCAAGCATCAGATGGAGACGCACTACCGAGTCCACACAGGTATGGGCGCCCTGCCCTGTGTGAACTGTCGGCTTTCTTCCCAACTCCGCTCCTGAGTCTCCACCTGTGTGCCCGGTTCCCGCGCAATCCCCTAGCCCCGTGGCCCGATCCACCCCTAACTTGGCCAGCTTTCGCCGCCTTCTTCCTTCCTTCACCGGCCTCCCCTTCCGACCGCTCTAGGAGAGAAGCCCTTCTCCTGTAGCCTTTGTCCTCAGCGCTCCCGGGACTTCTCGGCCATGACCAAGCACCTGCGGACACACGGGGCCGCTCCGTACCGCTGCTCCCTGTGCGGGGCCGGCTGTCCCAGCCTGGCCTCCATGCAGGCGCACATGCGCGGTCACTCGCCCAGCCAACTCCCGCCCGGATGGACCATCCGCTCCACCTTCCTCTACTCCTCCTCGAGGCCGTCTCGGCCCTCGACCTCTCCCTGTTGTCCTTCTTCCTCCACCACCTGACGGGGTGTCGGTAGCGTCTTAGCCAAGAGTCCAATTAAAGAACGAAAAGCGGGCCGGCTCGGCTTCTGACCTGGCACCGCTGCTACGGCGGCCTAGCAAATTCCGCCCCAGAAGCGCCCCAGGAAGGGCGCCGAGTGCCCTCTCCTGGACGATCGCGGGTCGCAGAAGCCCAGGCCAGCGAGCCCTACAGAGTGAGGACACTGAAGTGTGCAGGAGCGAAGGTTAACAGTAGGGGAGATTGTCGATCTCATCACCATAATAAAGAGTTTCCTGTGCCCTCCCTTCAGGACTAGAAAGCCGAGTTTAGTCTGTGCACACCCCCGCCCACGCCCCTTGTCCTGTAGCGGCCCCTGGTGGCCCTGCGTCCGCTGTCCAGCGGGATGGACACTTCTTCCACCCCCGAGGCGCCCCGTCCTCCCCAGGAGGCAGCCGGCCCCGAGGACTCGGTGTCCGGGCACACCTTGCGGCATGCCGGTCCTGGACTGGTGGGGGCTGTGCGACCGCAAGTCACTCGCCCCTTCCACTGCAATCCACGGCGCGCGGAGTCTGATCTGGGAACGCTCGGCCCGGGAGAGAGAGGAACGCGTGCTCCGACCCTGCTTTCGGCCACCCGCCTCCTCTCCGGGAGCACACGGACCCCGAGACCGCGGCCTCTCCGGCGTCTTCCCTCCACACCGTGCCAAGCCGCCGCCAGGTCGCGCCTGGAACGGAGACTGACTATGCTTTCCACCGCTCCTTCTCCAGCCCACGCCTCCTGCAGCCGCGAACTGCATTTCCCAGGGCCTCGGGGGTCCCGGGGCCCGAGCCCGCGGCACCCTGGGAGTGGTAGTCCACGCGGGCCGCCGGCCTAGCCAAGAACAATGGGAGGAGCCTGGGGCTAGGACCACACCTCCCGGAGACCCGGCAACCCGCTTTCCGGGTCCTGGCCGGGAACCCCGCCGTCCCGGCCCTCGCGCCCTGGCTGCCGGCGGAAGAAGCGAGGCGTCCGGACTACATTTCCCGGAGGCCCCCGCGGTTCGCCCCTCTGCGGCCGCGACGCGGGGGTCTGTGCTCCCCAGGTGCGGTCCGAGGGCGCCGGCCGGCCGCGGACTCCCTCTCCCGTGGTGCCCTGCGCGTGGCCGGCCCGGCCCCCGGTCTCCCGCGGCGGCGCTGGTTGTTGTCGTGCGCCGCGGCCGCCCCGCCCCGCCCCCGCTCTCTCCCCTCCCCCCGGCCCTGCGCACGGGCCGCCCCTCCCCCCGCCTCCCCGGCCCCTCTCACGGTGCCAAGATGGCGGCGGCGGCGGGCGGCGGGCGGCGGCAGTTGCCCCGGGCCTGGCTCCGCGCGGGGCCGCTTCCCGGGCCGGCCGCGGGGCGCCGGCGGGGGCGGGGGCCGCGGCGGACGGGGCAACGGGGCCGAAAGAGTGCGGGTAGCTCTGCGGCGCGGCGGTGGCGCGACGGGGCCGGGCGGAGCCGAGCCCGGGGAGGACACGGCCCTGCTCCGTTTGCTGGGGCTCCGCCGGGGCCTGCGCCGGCTCCGCCGCCTGTGGGCCGGCCCGCGGGTCCAGCGGGGCCGGGGACGGGGTCGGGGCCGGGGCTGGGGCCCGAGTCGAGGCTGCGTGCCGGAGGAGGAGAGCAGTGACGGGGAATCCGACGAGGAGGTGAGGCGGTTGGAGGCGTCCCCGGCGCCGGGTGGGGCGGAGGCCGGGGCTTCCAGGGGTCTGGGTTGTCCCGGGGGCGGCGTGGGCAGGCCGGGTCCTCAGGGTTCCTTCGGAGAGACGGGGCACGGAGGGAGGGCGGCTGCATGCAGCTTCCGGGGGAAAGGGCCTCTGGAAGTGGGTAGAGAAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAGCGTGGCCTTGGCAGACAGGTTGGAGCTGTCTGGGCTCTTACCTGTGGGCCGCCCCGCCGGGCCTCGCAACCTCCTGGTTTCTCCAGGGCCCCAGTTTCTCTTGGCATCTCAGGTAGAGTGGTGGAGGGCTTCCTCTTGGGGCTCGGGTTGAACAGGAGTGGGATGAAGGCCGGGACTGGGCACTCTAGCAGGTCAGAGCTCAGCTCAGGATTTCTCCCCCAGCCTTTCAGAACAGGCAGGAAGGTGTGGGTTGCGTTGCCCTGGACGGTTAATAACAACCTGAGAGCTCGCAGTGGAGCCTGTACGAAAGCCATCTGATGCCCTCCCCGCCCCTTCACTTGCGGGCCCCTGTTCCCAACTTAATGCAGAAATAAATTGTGGCCCGAAAGGGTGTCAGTGGAGGTCCCACTTTGGTCTGAATTGGACTCTGAAGGAATCTGAGTATGGGGCCTGCTGCCTTTCCTGAGGAGACCCTGTCGTCTTCTCTCTTGGGCCAGTGAACCATGGCTTTGGCTGTGCTGGTGTGGTCCGGCACTGGGGATCGGAGTTCGAAATACCTGGCGCCTCCATCCCTAGGGAGAGACCCTCTCTTCCACTACCCGCGACCTTTGAGTCTTTTTCGTTCTTTTTAAATAGGCAGGGGTATGCTAAGTGGGAACTGGGGATATTCCTCGATACCTCAGATGGAACGAGGGCTTTGGCACTGACTGCTGTTTCTCCCCTCCACCCCGGTCCCCTAAATCAGGAGTTTCAGGGTTTTCATTCAGATGAAGATGTGGCCCCCAGTTCCCTGCGCTCTGCGCTCCGATCCCAGCGAGGTGAGTGACGGGGGAACTCCACCTCTTTAGCGTCACAGGAATTTATCCTCGCCCTTCGTGTCAGCTCTTCCCTGTTCAACTAGCCTCTGTCAGTTGCCGAATGTGTTCTGTGTTCAGAGTCCAAGCTAGTCTGGGCAGCGGGGGAAACACACAAGCAAGACTTAGTCCCTGCCCTCCTGGAGCGCCTTCCTCTGTGTGTAGGGCTGGCTTGATCCATCTCCCCACAACTATTCTCCTTTTAGGTCGAGCGCCCCGAGGTCGGGGTCGCAAGCATAAGACGACCCCCCTTCCTCCTCCTCGCCTAGCAGATGTGGCTCCTACCCCCCCAAAGACCCCTGCCCGGAAACGGGGTGAGGAAGGCACAGAACGGATGGTGCAGGCACTGACTGAACTTCTCCGGCGGGCCCAGGCACCCCAAGCACCCCGGAGCCGGGCATGTGAGCCCTCCACCCCCCGGCGGTCTCGGGGACGGCCCCCAGGACGGCCAGCAGGCCCCTGCAGGAGGAAGCAGCAAGCAGTAGTGGT
pathogenic
302,266
Variant chromosome 19, position 35719861, gene KMT2B (lysine methyltransferase 2B): benign or pathogenic? Disease(s)?
pathogenic; ['Dystonia_28,_childhood-onset']
GCGGTCCGAGGGCGCCGGCCGGCCGCGGACTCCCTCTCCCGTGGTGCCCTGCGCGTGGCCGGCCCGGCCCCCGGTCTCCCGCGGCGGCGCTGGTTGTTGTCGTGCGCCGCGGCCGCCCCGCCCCGCCCCCGCTCTCTCCCCTCCCCCCGGCCCTGCGCACGGGCCGCCCCTCCCCCCGCCTCCCCGGCCCCTCTCACGGTGCCAAGATGGCGGCGGCGGCGGGCGGCGGCAGTTGCCCCGGGCCTGGCTCCGCGCGGGGCCGCTTCCCGGGCCGGCCGCGGGGCGCCGGCGGGGGCGGGGGCCGCGGCGGACGGGGCAACGGGGCCGAAAGAGTGCGGGTAGCTCTGCGGCGCGGCGGTGGCGCGACGGGGCCGGGCGGAGCCGAGCCCGGGGAGGACACGGCCCTGCTCCGTTTGCTGGGGCTCCGCCGGGGCCTGCGCCGGCTCCGCCGCCTGTGGGCCGGCCCGCGGGTCCAGCGGGGCCGGGGACGGGGTCGGGGCCGGGGCTGGGGCCCGAGTCGAGGCTGCGTGCCGGAGGAGGAGAGCAGTGACGGGGAATCCGACGAGGAGGTGAGGCGGTTGGAGGCGTCCCCGGCGCCGGGTGGGGCGGAGGCCGGGGCTTCCAGGGGTCTGGGTTGTCCCGGGGGCGGCGTGGGCAGGCCGGGTCCTCAGGGTTCCTTCGGAGAGACGGGGCACGGAGGGAGGGCGGCTGCATGCAGCTTCCGGGGGAAAGGGCCTCTGGAAGTGGGTAGAGAAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAGCGTGGCCTTGGCAGACAGGTTGGAGCTGTCTGGGCTCTTACCTGTGGGCCGCCCCGCCGGGCCTCGCAACCTCCTGGTTTCTCCAGGGCCCCAGTTTCTCTTGGCATCTCAGGTAGAGTGGTGGAGGGCTTCCTCTTGGGGCTCGGGTTGAACAGGAGTGGGATGAAGGCCGGGACTGGGCACTCTAGCAGGTCAGAGCTCAGCTCAGGATTTCTCCCCCAGCCTTTCAGAACAGGCAGGAAGGTGTGGGTTGCGTTGCCCTGGACGGTTAATAACAACCTGAGAGCTCGCAGTGGAGCCTGTACGAAAGCCATCTGATGCCCTCCCCGCCCCTTCACTTGCGGGCCCCTGTTCCCAACTTAATGCAGAAATAAATTGTGGCCCGAAAGGGTGTCAGTGGAGGTCCCACTTTGGTCTGAATTGGACTCTGAAGGAATCTGAGTATGGGGCCTGCTGCCTTTCCTGAGGAGACCCTGTCGTCTTCTCTCTTGGGCCAGTGAACCATGGCTTTGGCTGTGCTGGTGTGGTCCGGCACTGGGGATCGGAGTTCGAAATACCTGGCGCCTCCATCCCTAGGGAGAGACCCTCTCTTCCACTACCCGCGACCTTTGAGTCTTTTTCGTTCTTTTTAAATAGGCAGGGGTATGCTAAGTGGGAACTGGGGATATTCCTCGATACCTCAGATGGAACGAGGGCTTTGGCACTGACTGCTGTTTCTCCCCTCCACCCCGGTCCCCTAAATCAGGAGTTTCAGGGTTTTCATTCAGATGAAGATGTGGCCCCCAGTTCCCTGCGCTCTGCGCTCCGATCCCAGCGAGGTGAGTGACGGGGGAACTCCACCTCTTTAGCGTCACAGGAATTTATCCTCGCCCTTCGTGTCAGCTCTTCCCTGTTCAACTAGCCTCTGTCAGTTGCCGAATGTGTTCTGTGTTCAGAGTCCAAGCTAGTCTGGGCAGCGGGGGAAACACACAAGCAAGACTTAGTCCCTGCCCTCCTGGAGCGCCTTCCTCTGTGTGTAGGGCTGGCTTGATCCATCTCCCCACAACTATTCTCCTTTTAGGTCGAGCGCCCCGAGGTCGGGGTCGCAAGCATAAGACGACCCCCCTTCCTCCTCCTCGCCTAGCAGATGTGGCTCCTACCCCCCCAAAGACCCCTGCCCGGAAACGGGGTGAGGAAGGCACAGAACGGATGGTGCAGGCACTGACTGAACTTCTCCGGCGGGCCCAGGCACCCCAAGCACCCCGGAGCCGGGCATGTGAGCCCTCCACCCCCCGGCGGTCTCGGGGACGGCCCCCAGGACGGCCAGCAGGCCCCTGCAGGAGGAAGCAGCAAGCAGTAGTGGTGGCAGAAGCAGCTGTGACAATCCCCAAACCTGAGCCCCCACCTCCTGTGGTTCCAGTGAAACATCAGACTGGCAGCTGGAAATGCAAGGAGGGGCCCGGTCCAGGACCTGGGACCCCCAGGCGTGGAGGACAGTCAAGCCGTGGAGGCCGTGGAGGCAGGGGCCGCGGCCGAGGTGGTGGGCTCCCCTTTGTGATCAAGTTTGTTTCAAGGGCCAAAAAAGTAAAGATGGGACAATTGTCCTTGGGACTCGAATCAGGTCAAGGTCAAGGTCAACATGAGGAAAGTTGGCAGGATGTCCCCCAAAGAAGAGTTGGATCTGGACAGGGAGGGAGCCCTTGCTGGAAAAAGCAGGAACAGAAGCTGGATGACGAGGAAGAAGAGAAGAAAGAAGAAGAAGAAAAAGACAAGGAGGGAGAAGAGAAGGAAGAAAGAGCTGTAGCTGAGGAGATGATGCCAGCTGCGGAAAAGGAAGAGGCAAAGCTGCCACCACCGCCTCTGACTCCTCCAGCCCCTTCACCTCCTCCACCCCTCCCACCCCCTTCGACATCTCCTCCACCCCCACTCTGCCCTCCACCACCACCCCCAGTGTCCCCACCACCTCTACCATCCCCTCCACCGCCTCCTGCCCAAGAGGAGCAGGAGGAATCCCCTCCTCCTGTGGTCCCAGCTACGTGCTCCAGGAAGAGGGGCCGGCCTCCCCTGACTCCCAGCCAGCGGGCGGAGCGGGAAGCTGCTCGGGCAGGGCCAGAGGGCACCTCTCCTCCCACTCCAACCCCCAGCACCGCCACGGGAGGCCCTCCGGAAGACAGTCCCACCGTGGCCCCCAAAAGCACCACCTTCCTGAAGAATATCCGGCAGTTTATTATGCCTGTGGTGAGTGCCCGCTCCTCCCGTGTCATCAAGACACCCCGGCGATTTATGGATGAAGACCCCCCCAAACCCCCAAAGGTGGAGGTCTCACCTGTCCTGCGACCTCCCATTACCACCTCCCCACCTGTTCCCCAGGAGCCAGCACCAGTCCCCTCTCCACCACGTGCCCCAACTCCTCCATCTACCCCAGTTCCACTCCCTGAGAAGAGACGGTCCATCCTAAGGGAACCCACATTTCGCTGGACCTCACTGACCCGGGAGCTGCCCCCTCCTCCCCCAGCCCCTCCACCTCCCCCGGCCCCCTCCCCACCCCCTGCTCCTGCCACCTCCTCCCGGAGGCCCCTACTCCTTCGGGCCCCTCAGTTTACCCCAAGCGAAGCCCACCTGAAGATCTACGAATCGGTGCTTACTCCTCCTCCTCTTGGGGCTCCTGAAGCCCCTGAGCCAGAGCCTCCTCCTGCCGATGACTCTCCAGCTGAGCCTGAGCCTCGGGCAGTGGGCCGCACCAACCACCTCAGCCTGCCTCGATTCGCCCCTGTGGTCACCACTCCTGTTAAGGCCGAGGTGTCCCCTCACGGGGCTCCAGCTCTGAGCAACGGGCCACAGACACAGGCTCAGCTACTGCAGCCCCTGCAGGCCTTGCAAACCCAGCTCCTGCCCCAGGCACTACCGCCACCACAGCCACAGCTGCAGCCACCGCCGTCACCACAGCAGATGCCTCCCCTGGAAAAAGCCCGGATTGCGGGCGTGGGTTCCTTGCCGCTGTCTGGGGTAGAGGAGAAGATGTTCAGCCTCCTCAAGAGAGCCAAAGTGCAGCTATTCAAGATCGATCAGCAGCAGCAGCAGAAGGTGGCAGCTTCCATGCCGGTGAGTGTGGTCCCTGGGCCCAGCGGCACACCCAGCCATCCAGCCTCCATTCTTTGCAACCCCCTAACCTTCCGCCTCCTTGGACACTTTCCAGCATTGCGGGG
GCGGTCCGAGGGCGCCGGCCGGCCGCGGACTCCCTCTCCCGTGGTGCCCTGCGCGTGGCCGGCCCGGCCCCCGGTCTCCCGCGGCGGCGCTGGTTGTTGTCGTGCGCCGCGGCCGCCCCGCCCCGCCCCCGCTCTCTCCCCTCCCCCCGGCCCTGCGCACGGGCCGCCCCTCCCCCCGCCTCCCCGGCCCCTCTCACGGTGCCAAGATGGCGGCGGCGGCGGGCGGCGGCAGTTGCCCCGGGCCTGGCTCCGCGCGGGGCCGCTTCCCGGGCCGGCCGCGGGGCGCCGGCGGGGGCGGGGGCCGCGGCGGACGGGGCAACGGGGCCGAAAGAGTGCGGGTAGCTCTGCGGCGCGGCGGTGGCGCGACGGGGCCGGGCGGAGCCGAGCCCGGGGAGGACACGGCCCTGCTCCGTTTGCTGGGGCTCCGCCGGGGCCTGCGCCGGCTCCGCCGCCTGTGGGCCGGCCCGCGGGTCCAGCGGGGCCGGGGACGGGGTCGGGGCCGGGGCTGGGGCCCGAGTCGAGGCTGCGTGCCGGAGGAGGAGAGCAGTGACGGGGAATCCGACGAGGAGGTGAGGCGGTTGGAGGCGTCCCCGGCGCCGGGTGGGGCGGAGGCCGGGGCTTCCAGGGGTCTGGGTTGTCCCGGGGGCGGCGTGGGCAGGCCGGGTCCTCAGGGTTCCTTCGGAGAGACGGGGCACGGAGGGAGGGCGGCTGCATGCAGCTTCCGGGGGAAAGGGCCTCTGGAAGTGGGTAGAGAAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAGCGTGGCCTTGGCAGACAGGTTGGAGCTGTCTGGGCTCTTACCTGTGGGCCGCCCCGCCGGGCCTCGCAACCTCCTGGTTTCTCCAGGGCCCCAGTTTCTCTTGGCATCTCAGGTAGAGTGGTGGAGGGCTTCCTCTTGGGGCTCGGGTTGAACAGGAGTGGGATGAAGGCCGGGACTGGGCACTCTAGCAGGTCAGAGCTCAGCTCAGGATTTCTCCCCCAGCCTTTCAGAACAGGCAGGAAGGTGTGGGTTGCGTTGCCCTGGACGGTTAATAACAACCTGAGAGCTCGCAGTGGAGCCTGTACGAAAGCCATCTGATGCCCTCCCCGCCCCTTCACTTGCGGGCCCCTGTTCCCAACTTAATGCAGAAATAAATTGTGGCCCGAAAGGGTGTCAGTGGAGGTCCCACTTTGGTCTGAATTGGACTCTGAAGGAATCTGAGTATGGGGCCTGCTGCCTTTCCTGAGGAGACCCTGTCGTCTTCTCTCTTGGGCCAGTGAACCATGGCTTTGGCTGTGCTGGTGTGGTCCGGCACTGGGGATCGGAGTTCGAAATACCTGGCGCCTCCATCCCTAGGGAGAGACCCTCTCTTCCACTACCCGCGACCTTTGAGTCTTTTTCGTTCTTTTTAAATAGGCAGGGGTATGCTAAGTGGGAACTGGGGATATTCCTCGATACCTCAGATGGAACGAGGGCTTTGGCACTGACTGCTGTTTCTCCCCTCCACCCCGGTCCCCTAAATCAGGAGTTTCAGGGTTTTCATTCAGATGAAGATGTGGCCCCCAGTTCCCTGCGCTCTGCGCTCCGATCCCAGCGAGGTGAGTGACGGGGGAACTCCACCTCTTTAGCGTCACAGGAATTTATCCTCGCCCTTCGTGTCAGCTCTTCCCTGTTCAACTAGCCTCTGTCAGTTGCCGAATGTGTTCTGTGTTCAGAGTCCAAGCTAGTCTGGGCAGCGGGGGAAACACACAAGCAAGACTTAGTCCCTGCCCTCCTGGAGCGCCTTCCTCTGTGTGTAGGGCTGGCTTGATCCATCTCCCCACAACTATTCTCCTTTTAGGTCGAGCGCCCCGAGGTCGGGGTCGCAAGCATAAGACGACCCCCCTTCCTCCTCCTCGCCTAGCAGATGTGGCTCCTACCCCCCCCAAAGACCCCTGCCCGGAAACGGGGTGAGGAAGGCACAGAACGGATGGTGCAGGCACTGACTGAACTTCTCCGGCGGGCCCAGGCACCCCAAGCACCCCGGAGCCGGGCATGTGAGCCCTCCACCCCCCGGCGGTCTCGGGGACGGCCCCCAGGACGGCCAGCAGGCCCCTGCAGGAGGAAGCAGCAAGCAGTAGTGGTGGCAGAAGCAGCTGTGACAATCCCCAAACCTGAGCCCCCACCTCCTGTGGTTCCAGTGAAACATCAGACTGGCAGCTGGAAATGCAAGGAGGGGCCCGGTCCAGGACCTGGGACCCCCAGGCGTGGAGGACAGTCAAGCCGTGGAGGCCGTGGAGGCAGGGGCCGCGGCCGAGGTGGTGGGCTCCCCTTTGTGATCAAGTTTGTTTCAAGGGCCAAAAAAGTAAAGATGGGACAATTGTCCTTGGGACTCGAATCAGGTCAAGGTCAAGGTCAACATGAGGAAAGTTGGCAGGATGTCCCCCAAAGAAGAGTTGGATCTGGACAGGGAGGGAGCCCTTGCTGGAAAAAGCAGGAACAGAAGCTGGATGACGAGGAAGAAGAGAAGAAAGAAGAAGAAGAAAAAGACAAGGAGGGAGAAGAGAAGGAAGAAAGAGCTGTAGCTGAGGAGATGATGCCAGCTGCGGAAAAGGAAGAGGCAAAGCTGCCACCACCGCCTCTGACTCCTCCAGCCCCTTCACCTCCTCCACCCCTCCCACCCCCTTCGACATCTCCTCCACCCCCACTCTGCCCTCCACCACCACCCCCAGTGTCCCCACCACCTCTACCATCCCCTCCACCGCCTCCTGCCCAAGAGGAGCAGGAGGAATCCCCTCCTCCTGTGGTCCCAGCTACGTGCTCCAGGAAGAGGGGCCGGCCTCCCCTGACTCCCAGCCAGCGGGCGGAGCGGGAAGCTGCTCGGGCAGGGCCAGAGGGCACCTCTCCTCCCACTCCAACCCCCAGCACCGCCACGGGAGGCCCTCCGGAAGACAGTCCCACCGTGGCCCCCAAAAGCACCACCTTCCTGAAGAATATCCGGCAGTTTATTATGCCTGTGGTGAGTGCCCGCTCCTCCCGTGTCATCAAGACACCCCGGCGATTTATGGATGAAGACCCCCCCAAACCCCCAAAGGTGGAGGTCTCACCTGTCCTGCGACCTCCCATTACCACCTCCCCACCTGTTCCCCAGGAGCCAGCACCAGTCCCCTCTCCACCACGTGCCCCAACTCCTCCATCTACCCCAGTTCCACTCCCTGAGAAGAGACGGTCCATCCTAAGGGAACCCACATTTCGCTGGACCTCACTGACCCGGGAGCTGCCCCCTCCTCCCCCAGCCCCTCCACCTCCCCCGGCCCCCTCCCCACCCCCTGCTCCTGCCACCTCCTCCCGGAGGCCCCTACTCCTTCGGGCCCCTCAGTTTACCCCAAGCGAAGCCCACCTGAAGATCTACGAATCGGTGCTTACTCCTCCTCCTCTTGGGGCTCCTGAAGCCCCTGAGCCAGAGCCTCCTCCTGCCGATGACTCTCCAGCTGAGCCTGAGCCTCGGGCAGTGGGCCGCACCAACCACCTCAGCCTGCCTCGATTCGCCCCTGTGGTCACCACTCCTGTTAAGGCCGAGGTGTCCCCTCACGGGGCTCCAGCTCTGAGCAACGGGCCACAGACACAGGCTCAGCTACTGCAGCCCCTGCAGGCCTTGCAAACCCAGCTCCTGCCCCAGGCACTACCGCCACCACAGCCACAGCTGCAGCCACCGCCGTCACCACAGCAGATGCCTCCCCTGGAAAAAGCCCGGATTGCGGGCGTGGGTTCCTTGCCGCTGTCTGGGGTAGAGGAGAAGATGTTCAGCCTCCTCAAGAGAGCCAAAGTGCAGCTATTCAAGATCGATCAGCAGCAGCAGCAGAAGGTGGCAGCTTCCATGCCGGTGAGTGTGGTCCCTGGGCCCAGCGGCACACCCAGCCATCCAGCCTCCATTCTTTGCAACCCCCTAACCTTCCGCCTCCTTGGACACTTTCCAGCATTGCGGG
pathogenic
302,278
Mutation at chromosome 19, position 35720452, within KMT2B (lysine methyltransferase 2B): benign or pathogenic? If pathogenic, indicate the disease(s).
benign
CGGCGCCGGGTGGGGCGGAGGCCGGGGCTTCCAGGGGTCTGGGTTGTCCCGGGGGCGGCGTGGGCAGGCCGGGTCCTCAGGGTTCCTTCGGAGAGACGGGGCACGGAGGGAGGGCGGCTGCATGCAGCTTCCGGGGGAAAGGGCCTCTGGAAGTGGGTAGAGAAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAGCGTGGCCTTGGCAGACAGGTTGGAGCTGTCTGGGCTCTTACCTGTGGGCCGCCCCGCCGGGCCTCGCAACCTCCTGGTTTCTCCAGGGCCCCAGTTTCTCTTGGCATCTCAGGTAGAGTGGTGGAGGGCTTCCTCTTGGGGCTCGGGTTGAACAGGAGTGGGATGAAGGCCGGGACTGGGCACTCTAGCAGGTCAGAGCTCAGCTCAGGATTTCTCCCCCAGCCTTTCAGAACAGGCAGGAAGGTGTGGGTTGCGTTGCCCTGGACGGTTAATAACAACCTGAGAGCTCGCAGTGGAGCCTGTACGAAAGCCATCTGATGCCCTCCCCGCCCCTTCACTTGCGGGCCCCTGTTCCCAACTTAATGCAGAAATAAATTGTGGCCCGAAAGGGTGTCAGTGGAGGTCCCACTTTGGTCTGAATTGGACTCTGAAGGAATCTGAGTATGGGGCCTGCTGCCTTTCCTGAGGAGACCCTGTCGTCTTCTCTCTTGGGCCAGTGAACCATGGCTTTGGCTGTGCTGGTGTGGTCCGGCACTGGGGATCGGAGTTCGAAATACCTGGCGCCTCCATCCCTAGGGAGAGACCCTCTCTTCCACTACCCGCGACCTTTGAGTCTTTTTCGTTCTTTTTAAATAGGCAGGGGTATGCTAAGTGGGAACTGGGGATATTCCTCGATACCTCAGATGGAACGAGGGCTTTGGCACTGACTGCTGTTTCTCCCCTCCACCCCGGTCCCCTAAATCAGGAGTTTCAGGGTTTTCATTCAGATGAAGATGTGGCCCCCAGTTCCCTGCGCTCTGCGCTCCGATCCCAGCGAGGTGAGTGACGGGGGAACTCCACCTCTTTAGCGTCACAGGAATTTATCCTCGCCCTTCGTGTCAGCTCTTCCCTGTTCAACTAGCCTCTGTCAGTTGCCGAATGTGTTCTGTGTTCAGAGTCCAAGCTAGTCTGGGCAGCGGGGGAAACACACAAGCAAGACTTAGTCCCTGCCCTCCTGGAGCGCCTTCCTCTGTGTGTAGGGCTGGCTTGATCCATCTCCCCACAACTATTCTCCTTTTAGGTCGAGCGCCCCGAGGTCGGGGTCGCAAGCATAAGACGACCCCCCTTCCTCCTCCTCGCCTAGCAGATGTGGCTCCTACCCCCCCAAAGACCCCTGCCCGGAAACGGGGTGAGGAAGGCACAGAACGGATGGTGCAGGCACTGACTGAACTTCTCCGGCGGGCCCAGGCACCCCAAGCACCCCGGAGCCGGGCATGTGAGCCCTCCACCCCCCGGCGGTCTCGGGGACGGCCCCCAGGACGGCCAGCAGGCCCCTGCAGGAGGAAGCAGCAAGCAGTAGTGGTGGCAGAAGCAGCTGTGACAATCCCCAAACCTGAGCCCCCACCTCCTGTGGTTCCAGTGAAACATCAGACTGGCAGCTGGAAATGCAAGGAGGGGCCCGGTCCAGGACCTGGGACCCCCAGGCGTGGAGGACAGTCAAGCCGTGGAGGCCGTGGAGGCAGGGGCCGCGGCCGAGGTGGTGGGCTCCCCTTTGTGATCAAGTTTGTTTCAAGGGCCAAAAAAGTAAAGATGGGACAATTGTCCTTGGGACTCGAATCAGGTCAAGGTCAAGGTCAACATGAGGAAAGTTGGCAGGATGTCCCCCAAAGAAGAGTTGGATCTGGACAGGGAGGGAGCCCTTGCTGGAAAAAGCAGGAACAGAAGCTGGATGACGAGGAAGAAGAGAAGAAAGAAGAAGAAGAAAAAGACAAGGAGGGAGAAGAGAAGGAAGAAAGAGCTGTAGCTGAGGAGATGATGCCAGCTGCGGAAAAGGAAGAGGCAAAGCTGCCACCACCGCCTCTGACTCCTCCAGCCCCTTCACCTCCTCCACCCCTCCCACCCCCTTCGACATCTCCTCCACCCCCACTCTGCCCTCCACCACCACCCCCAGTGTCCCCACCACCTCTACCATCCCCTCCACCGCCTCCTGCCCAAGAGGAGCAGGAGGAATCCCCTCCTCCTGTGGTCCCAGCTACGTGCTCCAGGAAGAGGGGCCGGCCTCCCCTGACTCCCAGCCAGCGGGCGGAGCGGGAAGCTGCTCGGGCAGGGCCAGAGGGCACCTCTCCTCCCACTCCAACCCCCAGCACCGCCACGGGAGGCCCTCCGGAAGACAGTCCCACCGTGGCCCCCAAAAGCACCACCTTCCTGAAGAATATCCGGCAGTTTATTATGCCTGTGGTGAGTGCCCGCTCCTCCCGTGTCATCAAGACACCCCGGCGATTTATGGATGAAGACCCCCCCAAACCCCCAAAGGTGGAGGTCTCACCTGTCCTGCGACCTCCCATTACCACCTCCCCACCTGTTCCCCAGGAGCCAGCACCAGTCCCCTCTCCACCACGTGCCCCAACTCCTCCATCTACCCCAGTTCCACTCCCTGAGAAGAGACGGTCCATCCTAAGGGAACCCACATTTCGCTGGACCTCACTGACCCGGGAGCTGCCCCCTCCTCCCCCAGCCCCTCCACCTCCCCCGGCCCCCTCCCCACCCCCTGCTCCTGCCACCTCCTCCCGGAGGCCCCTACTCCTTCGGGCCCCTCAGTTTACCCCAAGCGAAGCCCACCTGAAGATCTACGAATCGGTGCTTACTCCTCCTCCTCTTGGGGCTCCTGAAGCCCCTGAGCCAGAGCCTCCTCCTGCCGATGACTCTCCAGCTGAGCCTGAGCCTCGGGCAGTGGGCCGCACCAACCACCTCAGCCTGCCTCGATTCGCCCCTGTGGTCACCACTCCTGTTAAGGCCGAGGTGTCCCCTCACGGGGCTCCAGCTCTGAGCAACGGGCCACAGACACAGGCTCAGCTACTGCAGCCCCTGCAGGCCTTGCAAACCCAGCTCCTGCCCCAGGCACTACCGCCACCACAGCCACAGCTGCAGCCACCGCCGTCACCACAGCAGATGCCTCCCCTGGAAAAAGCCCGGATTGCGGGCGTGGGTTCCTTGCCGCTGTCTGGGGTAGAGGAGAAGATGTTCAGCCTCCTCAAGAGAGCCAAAGTGCAGCTATTCAAGATCGATCAGCAGCAGCAGCAGAAGGTGGCAGCTTCCATGCCGGTGAGTGTGGTCCCTGGGCCCAGCGGCACACCCAGCCATCCAGCCTCCATTCTTTGCAACCCCCTAACCTTCCGCCTCCTTGGACACTTTCCAGCATTGCGGGGAACCCTCAGAACCTGCCTTTCTGTGATCCCCCACCTTCCTTTGTTCCTCCCCAGACCTGGCCCTTCTCTGTGCTAGTTCCCTGTCCCTATCTTCCTTTTTTTTTTTTTTTTATTTTTGAGACCGAGTCTCACTTTGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTTTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGTCTCTCGAGTAGCTGGGACTACAGGTGCCCATCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCTAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACACCCAGCTCCCTGTCCCTATCTTTCCTCACTGTCCAGCCCCTGACCCTGTTTATTCCCTGCCAGCTGAGCCCTGGAGGGCAGATGGAGGAGGTGGCCGGGGCTGTCAAGCAGATCTCCGACAGAGGCCCTGTCCGGTCTGAAGATGAGTCGGTGGAAGCTAAGAGAGAGCGGCCCTCAGTATGCATCGGGAGGAGGGCCCTGAAG
CGGCGCCGGGTGGGGCGGAGGCCGGGGCTTCCAGGGGTCTGGGTTGTCCCGGGGGCGGCGTGGGCAGGCCGGGTCCTCAGGGTTCCTTCGGAGAGACGGGGCACGGAGGGAGGGCGGCTGCATGCAGCTTCCGGGGGAAAGGGCCTCTGGAAGTGGGTAGAGAAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAGCGTGGCCTTGGCAGACAGGTTGGAGCTGTCTGGGCTCTTACCTGTGGGCCGCCCCGCCGGGCCTCGCAACCTCCTGGTTTCTCCAGGGCCCCAGTTTCTCTTGGCATCTCAGGTAGAGTGGTGGAGGGCTTCCTCTTGGGGCTCGGGTTGAACAGGAGTGGGATGAAGGCCGGGACTGGGCACTCTAGCAGGTCAGAGCTCAGCTCAGGATTTCTCCCCCAGCCTTTCAGAACAGGCAGGAAGGTGTGGGTTGCGTTGCCCTGGACGGTTAATAACAACCTGAGAGCTCGCAGTGGAGCCTGTACGAAAGCCATCTGATGCCCTCCCCGCCCCTTCACTTGCGGGCCCCTGTTCCCAACTTAATGCAGAAATAAATTGTGGCCCGAAAGGGTGTCAGTGGAGGTCCCACTTTGGTCTGAATTGGACTCTGAAGGAATCTGAGTATGGGGCCTGCTGCCTTTCCTGAGGAGACCCTGTCGTCTTCTCTCTTGGGCCAGTGAACCATGGCTTTGGCTGTGCTGGTGTGGTCCGGCACTGGGGATCGGAGTTCGAAATACCTGGCGCCTCCATCCCTAGGGAGAGACCCTCTCTTCCACTACCCGCGACCTTTGAGTCTTTTTCGTTCTTTTTAAATAGGCAGGGGTATGCTAAGTGGGAACTGGGGATATTCCTCGATACCTCAGATGGAACGAGGGCTTTGGCACTGACTGCTGTTTCTCCCCTCCACCCCGGTCCCCTAAATCAGGAGTTTCAGGGTTTTCATTCAGATGAAGATGTGGCCCCCAGTTCCCTGCGCTCTGCGCTCCGATCCCAGCGAGGTGAGTGACGGGGGAACTCCACCTCTTTAGCGTCACAGGAATTTATCCTCGCCCTTCGTGTCAGCTCTTCCCTGTTCAACTAGCCTCTGTCAGTTGCCGAATGTGTTCTGTGTTCAGAGTCCAAGCTAGTCTGGGCAGCGGGGGAAACACACAAGCAAGACTTAGTCCCTGCCCTCCTGGAGCGCCTTCCTCTGTGTGTAGGGCTGGCTTGATCCATCTCCCCACAACTATTCTCCTTTTAGGTCGAGCGCCCCGAGGTCGGGGTCGCAAGCATAAGACGACCCCCCTTCCTCCTCCTCGCCTAGCAGATGTGGCTCCTACCCCCCCAAAGACCCCTGCCCGGAAACGGGGTGAGGAAGGCACAGAACGGATGGTGCAGGCACTGACTGAACTTCTCCGGCGGGCCCAGGCACCCCAAGCACCCCGGAGCCGGGCATGTGAGCCCTCCACCCCCCGGCGGTCTCGGGGACGGCCCCCAGGACGGCCAGCAGGCCCCTGCAGGAGGAAGCAGCAAGCAGTAGTGGTGGCAGAAGCAGCTGTGACAATCCCCAAACCTGAGCCCCCACCTCCTGTGGTTCCAGTGAAACATCAGACTGGCAGCTGGAAATGCAAGGAGGGGCCCGGTCCAGGACCTGGGACCCCCAGGCGTGGAGGACAGTCAAGCCGTGGAGGCCGTGGAGGCAGGGGCCGCGGCCGAGGTGGTGGGCTCCCCTTTGTGATCAAGTTTGTTTCAAGGGCCAAAAAAGTAAAGATGGGACAATTGTCCTTGGGACTCGAATCAGGTCAAGGTCAAGGTCAACATGAGGAAAGTTGGCAGGATGTCCCCCAAAGAAGAGTTGGATCTGGACAGGGAGGGAGCCCTTGCTGGAAAAAGCAGGAACAGAAGCTGGATGACGAGGAAGAAGAGAAGAAAGAAGAAGAAAAAGACAAGGAGGGAGAAGAGAAGGAAGAAAGAGCTGTAGCTGAGGAGATGATGCCAGCTGCGGAAAAGGAAGAGGCAAAGCTGCCACCACCGCCTCTGACTCCTCCAGCCCCTTCACCTCCTCCACCCCTCCCACCCCCTTCGACATCTCCTCCACCCCCACTCTGCCCTCCACCACCACCCCCAGTGTCCCCACCACCTCTACCATCCCCTCCACCGCCTCCTGCCCAAGAGGAGCAGGAGGAATCCCCTCCTCCTGTGGTCCCAGCTACGTGCTCCAGGAAGAGGGGCCGGCCTCCCCTGACTCCCAGCCAGCGGGCGGAGCGGGAAGCTGCTCGGGCAGGGCCAGAGGGCACCTCTCCTCCCACTCCAACCCCCAGCACCGCCACGGGAGGCCCTCCGGAAGACAGTCCCACCGTGGCCCCCAAAAGCACCACCTTCCTGAAGAATATCCGGCAGTTTATTATGCCTGTGGTGAGTGCCCGCTCCTCCCGTGTCATCAAGACACCCCGGCGATTTATGGATGAAGACCCCCCCAAACCCCCAAAGGTGGAGGTCTCACCTGTCCTGCGACCTCCCATTACCACCTCCCCACCTGTTCCCCAGGAGCCAGCACCAGTCCCCTCTCCACCACGTGCCCCAACTCCTCCATCTACCCCAGTTCCACTCCCTGAGAAGAGACGGTCCATCCTAAGGGAACCCACATTTCGCTGGACCTCACTGACCCGGGAGCTGCCCCCTCCTCCCCCAGCCCCTCCACCTCCCCCGGCCCCCTCCCCACCCCCTGCTCCTGCCACCTCCTCCCGGAGGCCCCTACTCCTTCGGGCCCCTCAGTTTACCCCAAGCGAAGCCCACCTGAAGATCTACGAATCGGTGCTTACTCCTCCTCCTCTTGGGGCTCCTGAAGCCCCTGAGCCAGAGCCTCCTCCTGCCGATGACTCTCCAGCTGAGCCTGAGCCTCGGGCAGTGGGCCGCACCAACCACCTCAGCCTGCCTCGATTCGCCCCTGTGGTCACCACTCCTGTTAAGGCCGAGGTGTCCCCTCACGGGGCTCCAGCTCTGAGCAACGGGCCACAGACACAGGCTCAGCTACTGCAGCCCCTGCAGGCCTTGCAAACCCAGCTCCTGCCCCAGGCACTACCGCCACCACAGCCACAGCTGCAGCCACCGCCGTCACCACAGCAGATGCCTCCCCTGGAAAAAGCCCGGATTGCGGGCGTGGGTTCCTTGCCGCTGTCTGGGGTAGAGGAGAAGATGTTCAGCCTCCTCAAGAGAGCCAAAGTGCAGCTATTCAAGATCGATCAGCAGCAGCAGCAGAAGGTGGCAGCTTCCATGCCGGTGAGTGTGGTCCCTGGGCCCAGCGGCACACCCAGCCATCCAGCCTCCATTCTTTGCAACCCCCTAACCTTCCGCCTCCTTGGACACTTTCCAGCATTGCGGGGAACCCTCAGAACCTGCCTTTCTGTGATCCCCCACCTTCCTTTGTTCCTCCCCAGACCTGGCCCTTCTCTGTGCTAGTTCCCTGTCCCTATCTTCCTTTTTTTTTTTTTTTTATTTTTGAGACCGAGTCTCACTTTGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTTTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGTCTCTCGAGTAGCTGGGACTACAGGTGCCCATCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCTAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACACCCAGCTCCCTGTCCCTATCTTTCCTCACTGTCCAGCCCCTGACCCTGTTTATTCCCTGCCAGCTGAGCCCTGGAGGGCAGATGGAGGAGGTGGCCGGGGCTGTCAAGCAGATCTCCGACAGAGGCCCTGTCCGGTCTGAAGATGAGTCGGTGGAAGCTAAGAGAGAGCGGCCCTCAGTATGCATCGGGAGGAGGGCCCTGAAGNNN
benign
302,297
A genetic alteration at chromosome 19, position 35720472, in gene KMT2B (lysine methyltransferase 2B)—benign or pathogenic? If pathogenic, which disease(s) is involved?
benign
GCCGGGGCTTCCAGGGGTCTGGGTTGTCCCGGGGGCGGCGTGGGCAGGCCGGGTCCTCAGGGTTCCTTCGGAGAGACGGGGCACGGAGGGAGGGCGGCTGCATGCAGCTTCCGGGGGAAAGGGCCTCTGGAAGTGGGTAGAGAAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAGCGTGGCCTTGGCAGACAGGTTGGAGCTGTCTGGGCTCTTACCTGTGGGCCGCCCCGCCGGGCCTCGCAACCTCCTGGTTTCTCCAGGGCCCCAGTTTCTCTTGGCATCTCAGGTAGAGTGGTGGAGGGCTTCCTCTTGGGGCTCGGGTTGAACAGGAGTGGGATGAAGGCCGGGACTGGGCACTCTAGCAGGTCAGAGCTCAGCTCAGGATTTCTCCCCCAGCCTTTCAGAACAGGCAGGAAGGTGTGGGTTGCGTTGCCCTGGACGGTTAATAACAACCTGAGAGCTCGCAGTGGAGCCTGTACGAAAGCCATCTGATGCCCTCCCCGCCCCTTCACTTGCGGGCCCCTGTTCCCAACTTAATGCAGAAATAAATTGTGGCCCGAAAGGGTGTCAGTGGAGGTCCCACTTTGGTCTGAATTGGACTCTGAAGGAATCTGAGTATGGGGCCTGCTGCCTTTCCTGAGGAGACCCTGTCGTCTTCTCTCTTGGGCCAGTGAACCATGGCTTTGGCTGTGCTGGTGTGGTCCGGCACTGGGGATCGGAGTTCGAAATACCTGGCGCCTCCATCCCTAGGGAGAGACCCTCTCTTCCACTACCCGCGACCTTTGAGTCTTTTTCGTTCTTTTTAAATAGGCAGGGGTATGCTAAGTGGGAACTGGGGATATTCCTCGATACCTCAGATGGAACGAGGGCTTTGGCACTGACTGCTGTTTCTCCCCTCCACCCCGGTCCCCTAAATCAGGAGTTTCAGGGTTTTCATTCAGATGAAGATGTGGCCCCCAGTTCCCTGCGCTCTGCGCTCCGATCCCAGCGAGGTGAGTGACGGGGGAACTCCACCTCTTTAGCGTCACAGGAATTTATCCTCGCCCTTCGTGTCAGCTCTTCCCTGTTCAACTAGCCTCTGTCAGTTGCCGAATGTGTTCTGTGTTCAGAGTCCAAGCTAGTCTGGGCAGCGGGGGAAACACACAAGCAAGACTTAGTCCCTGCCCTCCTGGAGCGCCTTCCTCTGTGTGTAGGGCTGGCTTGATCCATCTCCCCACAACTATTCTCCTTTTAGGTCGAGCGCCCCGAGGTCGGGGTCGCAAGCATAAGACGACCCCCCTTCCTCCTCCTCGCCTAGCAGATGTGGCTCCTACCCCCCCAAAGACCCCTGCCCGGAAACGGGGTGAGGAAGGCACAGAACGGATGGTGCAGGCACTGACTGAACTTCTCCGGCGGGCCCAGGCACCCCAAGCACCCCGGAGCCGGGCATGTGAGCCCTCCACCCCCCGGCGGTCTCGGGGACGGCCCCCAGGACGGCCAGCAGGCCCCTGCAGGAGGAAGCAGCAAGCAGTAGTGGTGGCAGAAGCAGCTGTGACAATCCCCAAACCTGAGCCCCCACCTCCTGTGGTTCCAGTGAAACATCAGACTGGCAGCTGGAAATGCAAGGAGGGGCCCGGTCCAGGACCTGGGACCCCCAGGCGTGGAGGACAGTCAAGCCGTGGAGGCCGTGGAGGCAGGGGCCGCGGCCGAGGTGGTGGGCTCCCCTTTGTGATCAAGTTTGTTTCAAGGGCCAAAAAAGTAAAGATGGGACAATTGTCCTTGGGACTCGAATCAGGTCAAGGTCAAGGTCAACATGAGGAAAGTTGGCAGGATGTCCCCCAAAGAAGAGTTGGATCTGGACAGGGAGGGAGCCCTTGCTGGAAAAAGCAGGAACAGAAGCTGGATGACGAGGAAGAAGAGAAGAAAGAAGAAGAAGAAAAAGACAAGGAGGGAGAAGAGAAGGAAGAAAGAGCTGTAGCTGAGGAGATGATGCCAGCTGCGGAAAAGGAAGAGGCAAAGCTGCCACCACCGCCTCTGACTCCTCCAGCCCCTTCACCTCCTCCACCCCTCCCACCCCCTTCGACATCTCCTCCACCCCCACTCTGCCCTCCACCACCACCCCCAGTGTCCCCACCACCTCTACCATCCCCTCCACCGCCTCCTGCCCAAGAGGAGCAGGAGGAATCCCCTCCTCCTGTGGTCCCAGCTACGTGCTCCAGGAAGAGGGGCCGGCCTCCCCTGACTCCCAGCCAGCGGGCGGAGCGGGAAGCTGCTCGGGCAGGGCCAGAGGGCACCTCTCCTCCCACTCCAACCCCCAGCACCGCCACGGGAGGCCCTCCGGAAGACAGTCCCACCGTGGCCCCCAAAAGCACCACCTTCCTGAAGAATATCCGGCAGTTTATTATGCCTGTGGTGAGTGCCCGCTCCTCCCGTGTCATCAAGACACCCCGGCGATTTATGGATGAAGACCCCCCCAAACCCCCAAAGGTGGAGGTCTCACCTGTCCTGCGACCTCCCATTACCACCTCCCCACCTGTTCCCCAGGAGCCAGCACCAGTCCCCTCTCCACCACGTGCCCCAACTCCTCCATCTACCCCAGTTCCACTCCCTGAGAAGAGACGGTCCATCCTAAGGGAACCCACATTTCGCTGGACCTCACTGACCCGGGAGCTGCCCCCTCCTCCCCCAGCCCCTCCACCTCCCCCGGCCCCCTCCCCACCCCCTGCTCCTGCCACCTCCTCCCGGAGGCCCCTACTCCTTCGGGCCCCTCAGTTTACCCCAAGCGAAGCCCACCTGAAGATCTACGAATCGGTGCTTACTCCTCCTCCTCTTGGGGCTCCTGAAGCCCCTGAGCCAGAGCCTCCTCCTGCCGATGACTCTCCAGCTGAGCCTGAGCCTCGGGCAGTGGGCCGCACCAACCACCTCAGCCTGCCTCGATTCGCCCCTGTGGTCACCACTCCTGTTAAGGCCGAGGTGTCCCCTCACGGGGCTCCAGCTCTGAGCAACGGGCCACAGACACAGGCTCAGCTACTGCAGCCCCTGCAGGCCTTGCAAACCCAGCTCCTGCCCCAGGCACTACCGCCACCACAGCCACAGCTGCAGCCACCGCCGTCACCACAGCAGATGCCTCCCCTGGAAAAAGCCCGGATTGCGGGCGTGGGTTCCTTGCCGCTGTCTGGGGTAGAGGAGAAGATGTTCAGCCTCCTCAAGAGAGCCAAAGTGCAGCTATTCAAGATCGATCAGCAGCAGCAGCAGAAGGTGGCAGCTTCCATGCCGGTGAGTGTGGTCCCTGGGCCCAGCGGCACACCCAGCCATCCAGCCTCCATTCTTTGCAACCCCCTAACCTTCCGCCTCCTTGGACACTTTCCAGCATTGCGGGGAACCCTCAGAACCTGCCTTTCTGTGATCCCCCACCTTCCTTTGTTCCTCCCCAGACCTGGCCCTTCTCTGTGCTAGTTCCCTGTCCCTATCTTCCTTTTTTTTTTTTTTTTATTTTTGAGACCGAGTCTCACTTTGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTTTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGTCTCTCGAGTAGCTGGGACTACAGGTGCCCATCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCTAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACACCCAGCTCCCTGTCCCTATCTTTCCTCACTGTCCAGCCCCTGACCCTGTTTATTCCCTGCCAGCTGAGCCCTGGAGGGCAGATGGAGGAGGTGGCCGGGGCTGTCAAGCAGATCTCCGACAGAGGCCCTGTCCGGTCTGAAGATGAGTCGGTGGAAGCTAAGAGAGAGCGGCCCTCAGTATGCATCGGGAGGAGGGCCCTGAAGAAGACTGGCGGGAGGAGTGG
GCCGGGGCTTCCAGGGGTCTGGGTTGTCCCGGGGGCGGCGTGGGCAGGCCGGGTCCTCAGGGTTCCTTCGGAGAGACGGGGCACGGAGGGAGGGCGGCTGCATGCAGCTTCCGGGGGAAAGGGCCTCTGGAAGTGGGTAGAGAAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAGCGTGGCCTTGGCAGACAGGTTGGAGCTGTCTGGGCTCTTACCTGTGGGCCGCCCCGCCGGGCCTCGCAACCTCCTGGTTTCTCCAGGGCCCCAGTTTCTCTTGGCATCTCAGGTAGAGTGGTGGAGGGCTTCCTCTTGGGGCTCGGGTTGAACAGGAGTGGGATGAAGGCCGGGACTGGGCACTCTAGCAGGTCAGAGCTCAGCTCAGGATTTCTCCCCCAGCCTTTCAGAACAGGCAGGAAGGTGTGGGTTGCGTTGCCCTGGACGGTTAATAACAACCTGAGAGCTCGCAGTGGAGCCTGTACGAAAGCCATCTGATGCCCTCCCCGCCCCTTCACTTGCGGGCCCCTGTTCCCAACTTAATGCAGAAATAAATTGTGGCCCGAAAGGGTGTCAGTGGAGGTCCCACTTTGGTCTGAATTGGACTCTGAAGGAATCTGAGTATGGGGCCTGCTGCCTTTCCTGAGGAGACCCTGTCGTCTTCTCTCTTGGGCCAGTGAACCATGGCTTTGGCTGTGCTGGTGTGGTCCGGCACTGGGGATCGGAGTTCGAAATACCTGGCGCCTCCATCCCTAGGGAGAGACCCTCTCTTCCACTACCCGCGACCTTTGAGTCTTTTTCGTTCTTTTTAAATAGGCAGGGGTATGCTAAGTGGGAACTGGGGATATTCCTCGATACCTCAGATGGAACGAGGGCTTTGGCACTGACTGCTGTTTCTCCCCTCCACCCCGGTCCCCTAAATCAGGAGTTTCAGGGTTTTCATTCAGATGAAGATGTGGCCCCCAGTTCCCTGCGCTCTGCGCTCCGATCCCAGCGAGGTGAGTGACGGGGGAACTCCACCTCTTTAGCGTCACAGGAATTTATCCTCGCCCTTCGTGTCAGCTCTTCCCTGTTCAACTAGCCTCTGTCAGTTGCCGAATGTGTTCTGTGTTCAGAGTCCAAGCTAGTCTGGGCAGCGGGGGAAACACACAAGCAAGACTTAGTCCCTGCCCTCCTGGAGCGCCTTCCTCTGTGTGTAGGGCTGGCTTGATCCATCTCCCCACAACTATTCTCCTTTTAGGTCGAGCGCCCCGAGGTCGGGGTCGCAAGCATAAGACGACCCCCCTTCCTCCTCCTCGCCTAGCAGATGTGGCTCCTACCCCCCCAAAGACCCCTGCCCGGAAACGGGGTGAGGAAGGCACAGAACGGATGGTGCAGGCACTGACTGAACTTCTCCGGCGGGCCCAGGCACCCCAAGCACCCCGGAGCCGGGCATGTGAGCCCTCCACCCCCCGGCGGTCTCGGGGACGGCCCCCAGGACGGCCAGCAGGCCCCTGCAGGAGGAAGCAGCAAGCAGTAGTGGTGGCAGAAGCAGCTGTGACAATCCCCAAACCTGAGCCCCCACCTCCTGTGGTTCCAGTGAAACATCAGACTGGCAGCTGGAAATGCAAGGAGGGGCCCGGTCCAGGACCTGGGACCCCCAGGCGTGGAGGACAGTCAAGCCGTGGAGGCCGTGGAGGCAGGGGCCGCGGCCGAGGTGGTGGGCTCCCCTTTGTGATCAAGTTTGTTTCAAGGGCCAAAAAAGTAAAGATGGGACAATTGTCCTTGGGACTCGAATCAGGTCAAGGTCAAGGTCAACATGAGGAAAGTTGGCAGGATGTCCCCCAAAGAAGAGTTGGATCTGGACAGGGAGGGAGCCCTTGCTGGAAAAAGCAGGAACAGAAGCTGGATGACGAGGAAGAAGAGAAGAAAGAAGAAGAAGAAAAAGACGAGGGAGAAGAGAAGGAAGAAAGAGCTGTAGCTGAGGAGATGATGCCAGCTGCGGAAAAGGAAGAGGCAAAGCTGCCACCACCGCCTCTGACTCCTCCAGCCCCTTCACCTCCTCCACCCCTCCCACCCCCTTCGACATCTCCTCCACCCCCACTCTGCCCTCCACCACCACCCCCAGTGTCCCCACCACCTCTACCATCCCCTCCACCGCCTCCTGCCCAAGAGGAGCAGGAGGAATCCCCTCCTCCTGTGGTCCCAGCTACGTGCTCCAGGAAGAGGGGCCGGCCTCCCCTGACTCCCAGCCAGCGGGCGGAGCGGGAAGCTGCTCGGGCAGGGCCAGAGGGCACCTCTCCTCCCACTCCAACCCCCAGCACCGCCACGGGAGGCCCTCCGGAAGACAGTCCCACCGTGGCCCCCAAAAGCACCACCTTCCTGAAGAATATCCGGCAGTTTATTATGCCTGTGGTGAGTGCCCGCTCCTCCCGTGTCATCAAGACACCCCGGCGATTTATGGATGAAGACCCCCCCAAACCCCCAAAGGTGGAGGTCTCACCTGTCCTGCGACCTCCCATTACCACCTCCCCACCTGTTCCCCAGGAGCCAGCACCAGTCCCCTCTCCACCACGTGCCCCAACTCCTCCATCTACCCCAGTTCCACTCCCTGAGAAGAGACGGTCCATCCTAAGGGAACCCACATTTCGCTGGACCTCACTGACCCGGGAGCTGCCCCCTCCTCCCCCAGCCCCTCCACCTCCCCCGGCCCCCTCCCCACCCCCTGCTCCTGCCACCTCCTCCCGGAGGCCCCTACTCCTTCGGGCCCCTCAGTTTACCCCAAGCGAAGCCCACCTGAAGATCTACGAATCGGTGCTTACTCCTCCTCCTCTTGGGGCTCCTGAAGCCCCTGAGCCAGAGCCTCCTCCTGCCGATGACTCTCCAGCTGAGCCTGAGCCTCGGGCAGTGGGCCGCACCAACCACCTCAGCCTGCCTCGATTCGCCCCTGTGGTCACCACTCCTGTTAAGGCCGAGGTGTCCCCTCACGGGGCTCCAGCTCTGAGCAACGGGCCACAGACACAGGCTCAGCTACTGCAGCCCCTGCAGGCCTTGCAAACCCAGCTCCTGCCCCAGGCACTACCGCCACCACAGCCACAGCTGCAGCCACCGCCGTCACCACAGCAGATGCCTCCCCTGGAAAAAGCCCGGATTGCGGGCGTGGGTTCCTTGCCGCTGTCTGGGGTAGAGGAGAAGATGTTCAGCCTCCTCAAGAGAGCCAAAGTGCAGCTATTCAAGATCGATCAGCAGCAGCAGCAGAAGGTGGCAGCTTCCATGCCGGTGAGTGTGGTCCCTGGGCCCAGCGGCACACCCAGCCATCCAGCCTCCATTCTTTGCAACCCCCTAACCTTCCGCCTCCTTGGACACTTTCCAGCATTGCGGGGAACCCTCAGAACCTGCCTTTCTGTGATCCCCCACCTTCCTTTGTTCCTCCCCAGACCTGGCCCTTCTCTGTGCTAGTTCCCTGTCCCTATCTTCCTTTTTTTTTTTTTTTTATTTTTGAGACCGAGTCTCACTTTGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTTTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGTCTCTCGAGTAGCTGGGACTACAGGTGCCCATCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCTAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACACCCAGCTCCCTGTCCCTATCTTTCCTCACTGTCCAGCCCCTGACCCTGTTTATTCCCTGCCAGCTGAGCCCTGGAGGGCAGATGGAGGAGGTGGCCGGGGCTGTCAAGCAGATCTCCGACAGAGGCCCTGTCCGGTCTGAAGATGAGTCGGTGGAAGCTAAGAGAGAGCGGCCCTCAGTATGCATCGGGAGGAGGGCCCTGAAGAAGACTGGCGGGAGGAGTGGNNN
benign
302,299
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 35720472, gene KMT2B (lysine methyltransferase 2B). What disease(s) is it linked to if pathogenic?
pathogenic; ['Inborn_genetic_diseases']
GCCGGGGCTTCCAGGGGTCTGGGTTGTCCCGGGGGCGGCGTGGGCAGGCCGGGTCCTCAGGGTTCCTTCGGAGAGACGGGGCACGGAGGGAGGGCGGCTGCATGCAGCTTCCGGGGGAAAGGGCCTCTGGAAGTGGGTAGAGAAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAGCGTGGCCTTGGCAGACAGGTTGGAGCTGTCTGGGCTCTTACCTGTGGGCCGCCCCGCCGGGCCTCGCAACCTCCTGGTTTCTCCAGGGCCCCAGTTTCTCTTGGCATCTCAGGTAGAGTGGTGGAGGGCTTCCTCTTGGGGCTCGGGTTGAACAGGAGTGGGATGAAGGCCGGGACTGGGCACTCTAGCAGGTCAGAGCTCAGCTCAGGATTTCTCCCCCAGCCTTTCAGAACAGGCAGGAAGGTGTGGGTTGCGTTGCCCTGGACGGTTAATAACAACCTGAGAGCTCGCAGTGGAGCCTGTACGAAAGCCATCTGATGCCCTCCCCGCCCCTTCACTTGCGGGCCCCTGTTCCCAACTTAATGCAGAAATAAATTGTGGCCCGAAAGGGTGTCAGTGGAGGTCCCACTTTGGTCTGAATTGGACTCTGAAGGAATCTGAGTATGGGGCCTGCTGCCTTTCCTGAGGAGACCCTGTCGTCTTCTCTCTTGGGCCAGTGAACCATGGCTTTGGCTGTGCTGGTGTGGTCCGGCACTGGGGATCGGAGTTCGAAATACCTGGCGCCTCCATCCCTAGGGAGAGACCCTCTCTTCCACTACCCGCGACCTTTGAGTCTTTTTCGTTCTTTTTAAATAGGCAGGGGTATGCTAAGTGGGAACTGGGGATATTCCTCGATACCTCAGATGGAACGAGGGCTTTGGCACTGACTGCTGTTTCTCCCCTCCACCCCGGTCCCCTAAATCAGGAGTTTCAGGGTTTTCATTCAGATGAAGATGTGGCCCCCAGTTCCCTGCGCTCTGCGCTCCGATCCCAGCGAGGTGAGTGACGGGGGAACTCCACCTCTTTAGCGTCACAGGAATTTATCCTCGCCCTTCGTGTCAGCTCTTCCCTGTTCAACTAGCCTCTGTCAGTTGCCGAATGTGTTCTGTGTTCAGAGTCCAAGCTAGTCTGGGCAGCGGGGGAAACACACAAGCAAGACTTAGTCCCTGCCCTCCTGGAGCGCCTTCCTCTGTGTGTAGGGCTGGCTTGATCCATCTCCCCACAACTATTCTCCTTTTAGGTCGAGCGCCCCGAGGTCGGGGTCGCAAGCATAAGACGACCCCCCTTCCTCCTCCTCGCCTAGCAGATGTGGCTCCTACCCCCCCAAAGACCCCTGCCCGGAAACGGGGTGAGGAAGGCACAGAACGGATGGTGCAGGCACTGACTGAACTTCTCCGGCGGGCCCAGGCACCCCAAGCACCCCGGAGCCGGGCATGTGAGCCCTCCACCCCCCGGCGGTCTCGGGGACGGCCCCCAGGACGGCCAGCAGGCCCCTGCAGGAGGAAGCAGCAAGCAGTAGTGGTGGCAGAAGCAGCTGTGACAATCCCCAAACCTGAGCCCCCACCTCCTGTGGTTCCAGTGAAACATCAGACTGGCAGCTGGAAATGCAAGGAGGGGCCCGGTCCAGGACCTGGGACCCCCAGGCGTGGAGGACAGTCAAGCCGTGGAGGCCGTGGAGGCAGGGGCCGCGGCCGAGGTGGTGGGCTCCCCTTTGTGATCAAGTTTGTTTCAAGGGCCAAAAAAGTAAAGATGGGACAATTGTCCTTGGGACTCGAATCAGGTCAAGGTCAAGGTCAACATGAGGAAAGTTGGCAGGATGTCCCCCAAAGAAGAGTTGGATCTGGACAGGGAGGGAGCCCTTGCTGGAAAAAGCAGGAACAGAAGCTGGATGACGAGGAAGAAGAGAAGAAAGAAGAAGAAGAAAAAGACAAGGAGGGAGAAGAGAAGGAAGAAAGAGCTGTAGCTGAGGAGATGATGCCAGCTGCGGAAAAGGAAGAGGCAAAGCTGCCACCACCGCCTCTGACTCCTCCAGCCCCTTCACCTCCTCCACCCCTCCCACCCCCTTCGACATCTCCTCCACCCCCACTCTGCCCTCCACCACCACCCCCAGTGTCCCCACCACCTCTACCATCCCCTCCACCGCCTCCTGCCCAAGAGGAGCAGGAGGAATCCCCTCCTCCTGTGGTCCCAGCTACGTGCTCCAGGAAGAGGGGCCGGCCTCCCCTGACTCCCAGCCAGCGGGCGGAGCGGGAAGCTGCTCGGGCAGGGCCAGAGGGCACCTCTCCTCCCACTCCAACCCCCAGCACCGCCACGGGAGGCCCTCCGGAAGACAGTCCCACCGTGGCCCCCAAAAGCACCACCTTCCTGAAGAATATCCGGCAGTTTATTATGCCTGTGGTGAGTGCCCGCTCCTCCCGTGTCATCAAGACACCCCGGCGATTTATGGATGAAGACCCCCCCAAACCCCCAAAGGTGGAGGTCTCACCTGTCCTGCGACCTCCCATTACCACCTCCCCACCTGTTCCCCAGGAGCCAGCACCAGTCCCCTCTCCACCACGTGCCCCAACTCCTCCATCTACCCCAGTTCCACTCCCTGAGAAGAGACGGTCCATCCTAAGGGAACCCACATTTCGCTGGACCTCACTGACCCGGGAGCTGCCCCCTCCTCCCCCAGCCCCTCCACCTCCCCCGGCCCCCTCCCCACCCCCTGCTCCTGCCACCTCCTCCCGGAGGCCCCTACTCCTTCGGGCCCCTCAGTTTACCCCAAGCGAAGCCCACCTGAAGATCTACGAATCGGTGCTTACTCCTCCTCCTCTTGGGGCTCCTGAAGCCCCTGAGCCAGAGCCTCCTCCTGCCGATGACTCTCCAGCTGAGCCTGAGCCTCGGGCAGTGGGCCGCACCAACCACCTCAGCCTGCCTCGATTCGCCCCTGTGGTCACCACTCCTGTTAAGGCCGAGGTGTCCCCTCACGGGGCTCCAGCTCTGAGCAACGGGCCACAGACACAGGCTCAGCTACTGCAGCCCCTGCAGGCCTTGCAAACCCAGCTCCTGCCCCAGGCACTACCGCCACCACAGCCACAGCTGCAGCCACCGCCGTCACCACAGCAGATGCCTCCCCTGGAAAAAGCCCGGATTGCGGGCGTGGGTTCCTTGCCGCTGTCTGGGGTAGAGGAGAAGATGTTCAGCCTCCTCAAGAGAGCCAAAGTGCAGCTATTCAAGATCGATCAGCAGCAGCAGCAGAAGGTGGCAGCTTCCATGCCGGTGAGTGTGGTCCCTGGGCCCAGCGGCACACCCAGCCATCCAGCCTCCATTCTTTGCAACCCCCTAACCTTCCGCCTCCTTGGACACTTTCCAGCATTGCGGGGAACCCTCAGAACCTGCCTTTCTGTGATCCCCCACCTTCCTTTGTTCCTCCCCAGACCTGGCCCTTCTCTGTGCTAGTTCCCTGTCCCTATCTTCCTTTTTTTTTTTTTTTTATTTTTGAGACCGAGTCTCACTTTGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTTTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGTCTCTCGAGTAGCTGGGACTACAGGTGCCCATCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCTAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACACCCAGCTCCCTGTCCCTATCTTTCCTCACTGTCCAGCCCCTGACCCTGTTTATTCCCTGCCAGCTGAGCCCTGGAGGGCAGATGGAGGAGGTGGCCGGGGCTGTCAAGCAGATCTCCGACAGAGGCCCTGTCCGGTCTGAAGATGAGTCGGTGGAAGCTAAGAGAGAGCGGCCCTCAGTATGCATCGGGAGGAGGGCCCTGAAGAAGACTGGCGGGAGGAGTGG
GCCGGGGCTTCCAGGGGTCTGGGTTGTCCCGGGGGCGGCGTGGGCAGGCCGGGTCCTCAGGGTTCCTTCGGAGAGACGGGGCACGGAGGGAGGGCGGCTGCATGCAGCTTCCGGGGGAAAGGGCCTCTGGAAGTGGGTAGAGAAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAGCGTGGCCTTGGCAGACAGGTTGGAGCTGTCTGGGCTCTTACCTGTGGGCCGCCCCGCCGGGCCTCGCAACCTCCTGGTTTCTCCAGGGCCCCAGTTTCTCTTGGCATCTCAGGTAGAGTGGTGGAGGGCTTCCTCTTGGGGCTCGGGTTGAACAGGAGTGGGATGAAGGCCGGGACTGGGCACTCTAGCAGGTCAGAGCTCAGCTCAGGATTTCTCCCCCAGCCTTTCAGAACAGGCAGGAAGGTGTGGGTTGCGTTGCCCTGGACGGTTAATAACAACCTGAGAGCTCGCAGTGGAGCCTGTACGAAAGCCATCTGATGCCCTCCCCGCCCCTTCACTTGCGGGCCCCTGTTCCCAACTTAATGCAGAAATAAATTGTGGCCCGAAAGGGTGTCAGTGGAGGTCCCACTTTGGTCTGAATTGGACTCTGAAGGAATCTGAGTATGGGGCCTGCTGCCTTTCCTGAGGAGACCCTGTCGTCTTCTCTCTTGGGCCAGTGAACCATGGCTTTGGCTGTGCTGGTGTGGTCCGGCACTGGGGATCGGAGTTCGAAATACCTGGCGCCTCCATCCCTAGGGAGAGACCCTCTCTTCCACTACCCGCGACCTTTGAGTCTTTTTCGTTCTTTTTAAATAGGCAGGGGTATGCTAAGTGGGAACTGGGGATATTCCTCGATACCTCAGATGGAACGAGGGCTTTGGCACTGACTGCTGTTTCTCCCCTCCACCCCGGTCCCCTAAATCAGGAGTTTCAGGGTTTTCATTCAGATGAAGATGTGGCCCCCAGTTCCCTGCGCTCTGCGCTCCGATCCCAGCGAGGTGAGTGACGGGGGAACTCCACCTCTTTAGCGTCACAGGAATTTATCCTCGCCCTTCGTGTCAGCTCTTCCCTGTTCAACTAGCCTCTGTCAGTTGCCGAATGTGTTCTGTGTTCAGAGTCCAAGCTAGTCTGGGCAGCGGGGGAAACACACAAGCAAGACTTAGTCCCTGCCCTCCTGGAGCGCCTTCCTCTGTGTGTAGGGCTGGCTTGATCCATCTCCCCACAACTATTCTCCTTTTAGGTCGAGCGCCCCGAGGTCGGGGTCGCAAGCATAAGACGACCCCCCTTCCTCCTCCTCGCCTAGCAGATGTGGCTCCTACCCCCCCAAAGACCCCTGCCCGGAAACGGGGTGAGGAAGGCACAGAACGGATGGTGCAGGCACTGACTGAACTTCTCCGGCGGGCCCAGGCACCCCAAGCACCCCGGAGCCGGGCATGTGAGCCCTCCACCCCCCGGCGGTCTCGGGGACGGCCCCCAGGACGGCCAGCAGGCCCCTGCAGGAGGAAGCAGCAAGCAGTAGTGGTGGCAGAAGCAGCTGTGACAATCCCCAAACCTGAGCCCCCACCTCCTGTGGTTCCAGTGAAACATCAGACTGGCAGCTGGAAATGCAAGGAGGGGCCCGGTCCAGGACCTGGGACCCCCAGGCGTGGAGGACAGTCAAGCCGTGGAGGCCGTGGAGGCAGGGGCCGCGGCCGAGGTGGTGGGCTCCCCTTTGTGATCAAGTTTGTTTCAAGGGCCAAAAAAGTAAAGATGGGACAATTGTCCTTGGGACTCGAATCAGGTCAAGGTCAAGGTCAACATGAGGAAAGTTGGCAGGATGTCCCCCAAAGAAGAGTTGGATCTGGACAGGGAGGGAGCCCTTGCTGGAAAAAGCAGGAACAGAAGCTGGATGACGAGGAAGAAGAGAAGAAAGAAGAAGAAGAAAAAGACAGGGAGAAGAGAAGGAAGAAAGAGCTGTAGCTGAGGAGATGATGCCAGCTGCGGAAAAGGAAGAGGCAAAGCTGCCACCACCGCCTCTGACTCCTCCAGCCCCTTCACCTCCTCCACCCCTCCCACCCCCTTCGACATCTCCTCCACCCCCACTCTGCCCTCCACCACCACCCCCAGTGTCCCCACCACCTCTACCATCCCCTCCACCGCCTCCTGCCCAAGAGGAGCAGGAGGAATCCCCTCCTCCTGTGGTCCCAGCTACGTGCTCCAGGAAGAGGGGCCGGCCTCCCCTGACTCCCAGCCAGCGGGCGGAGCGGGAAGCTGCTCGGGCAGGGCCAGAGGGCACCTCTCCTCCCACTCCAACCCCCAGCACCGCCACGGGAGGCCCTCCGGAAGACAGTCCCACCGTGGCCCCCAAAAGCACCACCTTCCTGAAGAATATCCGGCAGTTTATTATGCCTGTGGTGAGTGCCCGCTCCTCCCGTGTCATCAAGACACCCCGGCGATTTATGGATGAAGACCCCCCCAAACCCCCAAAGGTGGAGGTCTCACCTGTCCTGCGACCTCCCATTACCACCTCCCCACCTGTTCCCCAGGAGCCAGCACCAGTCCCCTCTCCACCACGTGCCCCAACTCCTCCATCTACCCCAGTTCCACTCCCTGAGAAGAGACGGTCCATCCTAAGGGAACCCACATTTCGCTGGACCTCACTGACCCGGGAGCTGCCCCCTCCTCCCCCAGCCCCTCCACCTCCCCCGGCCCCCTCCCCACCCCCTGCTCCTGCCACCTCCTCCCGGAGGCCCCTACTCCTTCGGGCCCCTCAGTTTACCCCAAGCGAAGCCCACCTGAAGATCTACGAATCGGTGCTTACTCCTCCTCCTCTTGGGGCTCCTGAAGCCCCTGAGCCAGAGCCTCCTCCTGCCGATGACTCTCCAGCTGAGCCTGAGCCTCGGGCAGTGGGCCGCACCAACCACCTCAGCCTGCCTCGATTCGCCCCTGTGGTCACCACTCCTGTTAAGGCCGAGGTGTCCCCTCACGGGGCTCCAGCTCTGAGCAACGGGCCACAGACACAGGCTCAGCTACTGCAGCCCCTGCAGGCCTTGCAAACCCAGCTCCTGCCCCAGGCACTACCGCCACCACAGCCACAGCTGCAGCCACCGCCGTCACCACAGCAGATGCCTCCCCTGGAAAAAGCCCGGATTGCGGGCGTGGGTTCCTTGCCGCTGTCTGGGGTAGAGGAGAAGATGTTCAGCCTCCTCAAGAGAGCCAAAGTGCAGCTATTCAAGATCGATCAGCAGCAGCAGCAGAAGGTGGCAGCTTCCATGCCGGTGAGTGTGGTCCCTGGGCCCAGCGGCACACCCAGCCATCCAGCCTCCATTCTTTGCAACCCCCTAACCTTCCGCCTCCTTGGACACTTTCCAGCATTGCGGGGAACCCTCAGAACCTGCCTTTCTGTGATCCCCCACCTTCCTTTGTTCCTCCCCAGACCTGGCCCTTCTCTGTGCTAGTTCCCTGTCCCTATCTTCCTTTTTTTTTTTTTTTTATTTTTGAGACCGAGTCTCACTTTGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTTTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGTCTCTCGAGTAGCTGGGACTACAGGTGCCCATCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCTAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACACCCAGCTCCCTGTCCCTATCTTTCCTCACTGTCCAGCCCCTGACCCTGTTTATTCCCTGCCAGCTGAGCCCTGGAGGGCAGATGGAGGAGGTGGCCGGGGCTGTCAAGCAGATCTCCGACAGAGGCCCTGTCCGGTCTGAAGATGAGTCGGTGGAAGCTAAGAGAGAGCGGCCCTCAGTATGCATCGGGAGGAGGGCCCTGAAGAAGACTGGCGGGAGGAGTGGNNNN
pathogenic
302,300
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 35720614, gene KMT2B (lysine methyltransferase 2B): what disease(s) if pathogenic?
benign
AAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAGCGTGGCCTTGGCAGACAGGTTGGAGCTGTCTGGGCTCTTACCTGTGGGCCGCCCCGCCGGGCCTCGCAACCTCCTGGTTTCTCCAGGGCCCCAGTTTCTCTTGGCATCTCAGGTAGAGTGGTGGAGGGCTTCCTCTTGGGGCTCGGGTTGAACAGGAGTGGGATGAAGGCCGGGACTGGGCACTCTAGCAGGTCAGAGCTCAGCTCAGGATTTCTCCCCCAGCCTTTCAGAACAGGCAGGAAGGTGTGGGTTGCGTTGCCCTGGACGGTTAATAACAACCTGAGAGCTCGCAGTGGAGCCTGTACGAAAGCCATCTGATGCCCTCCCCGCCCCTTCACTTGCGGGCCCCTGTTCCCAACTTAATGCAGAAATAAATTGTGGCCCGAAAGGGTGTCAGTGGAGGTCCCACTTTGGTCTGAATTGGACTCTGAAGGAATCTGAGTATGGGGCCTGCTGCCTTTCCTGAGGAGACCCTGTCGTCTTCTCTCTTGGGCCAGTGAACCATGGCTTTGGCTGTGCTGGTGTGGTCCGGCACTGGGGATCGGAGTTCGAAATACCTGGCGCCTCCATCCCTAGGGAGAGACCCTCTCTTCCACTACCCGCGACCTTTGAGTCTTTTTCGTTCTTTTTAAATAGGCAGGGGTATGCTAAGTGGGAACTGGGGATATTCCTCGATACCTCAGATGGAACGAGGGCTTTGGCACTGACTGCTGTTTCTCCCCTCCACCCCGGTCCCCTAAATCAGGAGTTTCAGGGTTTTCATTCAGATGAAGATGTGGCCCCCAGTTCCCTGCGCTCTGCGCTCCGATCCCAGCGAGGTGAGTGACGGGGGAACTCCACCTCTTTAGCGTCACAGGAATTTATCCTCGCCCTTCGTGTCAGCTCTTCCCTGTTCAACTAGCCTCTGTCAGTTGCCGAATGTGTTCTGTGTTCAGAGTCCAAGCTAGTCTGGGCAGCGGGGGAAACACACAAGCAAGACTTAGTCCCTGCCCTCCTGGAGCGCCTTCCTCTGTGTGTAGGGCTGGCTTGATCCATCTCCCCACAACTATTCTCCTTTTAGGTCGAGCGCCCCGAGGTCGGGGTCGCAAGCATAAGACGACCCCCCTTCCTCCTCCTCGCCTAGCAGATGTGGCTCCTACCCCCCCAAAGACCCCTGCCCGGAAACGGGGTGAGGAAGGCACAGAACGGATGGTGCAGGCACTGACTGAACTTCTCCGGCGGGCCCAGGCACCCCAAGCACCCCGGAGCCGGGCATGTGAGCCCTCCACCCCCCGGCGGTCTCGGGGACGGCCCCCAGGACGGCCAGCAGGCCCCTGCAGGAGGAAGCAGCAAGCAGTAGTGGTGGCAGAAGCAGCTGTGACAATCCCCAAACCTGAGCCCCCACCTCCTGTGGTTCCAGTGAAACATCAGACTGGCAGCTGGAAATGCAAGGAGGGGCCCGGTCCAGGACCTGGGACCCCCAGGCGTGGAGGACAGTCAAGCCGTGGAGGCCGTGGAGGCAGGGGCCGCGGCCGAGGTGGTGGGCTCCCCTTTGTGATCAAGTTTGTTTCAAGGGCCAAAAAAGTAAAGATGGGACAATTGTCCTTGGGACTCGAATCAGGTCAAGGTCAAGGTCAACATGAGGAAAGTTGGCAGGATGTCCCCCAAAGAAGAGTTGGATCTGGACAGGGAGGGAGCCCTTGCTGGAAAAAGCAGGAACAGAAGCTGGATGACGAGGAAGAAGAGAAGAAAGAAGAAGAAGAAAAAGACAAGGAGGGAGAAGAGAAGGAAGAAAGAGCTGTAGCTGAGGAGATGATGCCAGCTGCGGAAAAGGAAGAGGCAAAGCTGCCACCACCGCCTCTGACTCCTCCAGCCCCTTCACCTCCTCCACCCCTCCCACCCCCTTCGACATCTCCTCCACCCCCACTCTGCCCTCCACCACCACCCCCAGTGTCCCCACCACCTCTACCATCCCCTCCACCGCCTCCTGCCCAAGAGGAGCAGGAGGAATCCCCTCCTCCTGTGGTCCCAGCTACGTGCTCCAGGAAGAGGGGCCGGCCTCCCCTGACTCCCAGCCAGCGGGCGGAGCGGGAAGCTGCTCGGGCAGGGCCAGAGGGCACCTCTCCTCCCACTCCAACCCCCAGCACCGCCACGGGAGGCCCTCCGGAAGACAGTCCCACCGTGGCCCCCAAAAGCACCACCTTCCTGAAGAATATCCGGCAGTTTATTATGCCTGTGGTGAGTGCCCGCTCCTCCCGTGTCATCAAGACACCCCGGCGATTTATGGATGAAGACCCCCCCAAACCCCCAAAGGTGGAGGTCTCACCTGTCCTGCGACCTCCCATTACCACCTCCCCACCTGTTCCCCAGGAGCCAGCACCAGTCCCCTCTCCACCACGTGCCCCAACTCCTCCATCTACCCCAGTTCCACTCCCTGAGAAGAGACGGTCCATCCTAAGGGAACCCACATTTCGCTGGACCTCACTGACCCGGGAGCTGCCCCCTCCTCCCCCAGCCCCTCCACCTCCCCCGGCCCCCTCCCCACCCCCTGCTCCTGCCACCTCCTCCCGGAGGCCCCTACTCCTTCGGGCCCCTCAGTTTACCCCAAGCGAAGCCCACCTGAAGATCTACGAATCGGTGCTTACTCCTCCTCCTCTTGGGGCTCCTGAAGCCCCTGAGCCAGAGCCTCCTCCTGCCGATGACTCTCCAGCTGAGCCTGAGCCTCGGGCAGTGGGCCGCACCAACCACCTCAGCCTGCCTCGATTCGCCCCTGTGGTCACCACTCCTGTTAAGGCCGAGGTGTCCCCTCACGGGGCTCCAGCTCTGAGCAACGGGCCACAGACACAGGCTCAGCTACTGCAGCCCCTGCAGGCCTTGCAAACCCAGCTCCTGCCCCAGGCACTACCGCCACCACAGCCACAGCTGCAGCCACCGCCGTCACCACAGCAGATGCCTCCCCTGGAAAAAGCCCGGATTGCGGGCGTGGGTTCCTTGCCGCTGTCTGGGGTAGAGGAGAAGATGTTCAGCCTCCTCAAGAGAGCCAAAGTGCAGCTATTCAAGATCGATCAGCAGCAGCAGCAGAAGGTGGCAGCTTCCATGCCGGTGAGTGTGGTCCCTGGGCCCAGCGGCACACCCAGCCATCCAGCCTCCATTCTTTGCAACCCCCTAACCTTCCGCCTCCTTGGACACTTTCCAGCATTGCGGGGAACCCTCAGAACCTGCCTTTCTGTGATCCCCCACCTTCCTTTGTTCCTCCCCAGACCTGGCCCTTCTCTGTGCTAGTTCCCTGTCCCTATCTTCCTTTTTTTTTTTTTTTTATTTTTGAGACCGAGTCTCACTTTGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTTTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGTCTCTCGAGTAGCTGGGACTACAGGTGCCCATCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCTAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACACCCAGCTCCCTGTCCCTATCTTTCCTCACTGTCCAGCCCCTGACCCTGTTTATTCCCTGCCAGCTGAGCCCTGGAGGGCAGATGGAGGAGGTGGCCGGGGCTGTCAAGCAGATCTCCGACAGAGGCCCTGTCCGGTCTGAAGATGAGTCGGTGGAAGCTAAGAGAGAGCGGCCCTCAGTATGCATCGGGAGGAGGGCCCTGAAGAAGACTGGCGGGAGGAGTGGGGCTGCGGGAGCGCAAGCTGCCCACACACACTCCGATTTCTCCCCCAGGGTCCCGAGTCCCCTGTGCAAGGTCCCCGCATCAAACATGTCTGCCGTCATGCTGCTGTGGCCCTGGGTCAGGCCCGGGCCATGGTGCCTGAAG
AAGCCCCGGCTGCAGCCAGGCACTCGCGCCCGATGTCGGTCCCGCTGAAGTGTCTTGGGCCGATCCTTTTCGGCAGCTGGCAAAGCTAGGGCGGTGGAGGTTTGGGCGAGGAGGCAGTGGGGACTGCATGTCCAGCCAGTCGTGGTTGACAGCGGCAGCGTGGCCTTGGCAGACAGGTTGGAGCTGTCTGGGCTCTTACCTGTGGGCCGCCCCGCCGGGCCTCGCAACCTCCTGGTTTCTCCAGGGCCCCAGTTTCTCTTGGCATCTCAGGTAGAGTGGTGGAGGGCTTCCTCTTGGGGCTCGGGTTGAACAGGAGTGGGATGAAGGCCGGGACTGGGCACTCTAGCAGGTCAGAGCTCAGCTCAGGATTTCTCCCCCAGCCTTTCAGAACAGGCAGGAAGGTGTGGGTTGCGTTGCCCTGGACGGTTAATAACAACCTGAGAGCTCGCAGTGGAGCCTGTACGAAAGCCATCTGATGCCCTCCCCGCCCCTTCACTTGCGGGCCCCTGTTCCCAACTTAATGCAGAAATAAATTGTGGCCCGAAAGGGTGTCAGTGGAGGTCCCACTTTGGTCTGAATTGGACTCTGAAGGAATCTGAGTATGGGGCCTGCTGCCTTTCCTGAGGAGACCCTGTCGTCTTCTCTCTTGGGCCAGTGAACCATGGCTTTGGCTGTGCTGGTGTGGTCCGGCACTGGGGATCGGAGTTCGAAATACCTGGCGCCTCCATCCCTAGGGAGAGACCCTCTCTTCCACTACCCGCGACCTTTGAGTCTTTTTCGTTCTTTTTAAATAGGCAGGGGTATGCTAAGTGGGAACTGGGGATATTCCTCGATACCTCAGATGGAACGAGGGCTTTGGCACTGACTGCTGTTTCTCCCCTCCACCCCGGTCCCCTAAATCAGGAGTTTCAGGGTTTTCATTCAGATGAAGATGTGGCCCCCAGTTCCCTGCGCTCTGCGCTCCGATCCCAGCGAGGTGAGTGACGGGGGAACTCCACCTCTTTAGCGTCACAGGAATTTATCCTCGCCCTTCGTGTCAGCTCTTCCCTGTTCAACTAGCCTCTGTCAGTTGCCGAATGTGTTCTGTGTTCAGAGTCCAAGCTAGTCTGGGCAGCGGGGGAAACACACAAGCAAGACTTAGTCCCTGCCCTCCTGGAGCGCCTTCCTCTGTGTGTAGGGCTGGCTTGATCCATCTCCCCACAACTATTCTCCTTTTAGGTCGAGCGCCCCGAGGTCGGGGTCGCAAGCATAAGACGACCCCCCTTCCTCCTCCTCGCCTAGCAGATGTGGCTCCTACCCCCCCAAAGACCCCTGCCCGGAAACGGGGTGAGGAAGGCACAGAACGGATGGTGCAGGCACTGACTGAACTTCTCCGGCGGGCCCAGGCACCCCAAGCACCCCGGAGCCGGGCATGTGAGCCCTCCACCCCCCGGCGGTCTCGGGGACGGCCCCCAGGACGGCCAGCAGGCCCCTGCAGGAGGAAGCAGCAAGCAGTAGTGGTGGCAGAAGCAGCTGTGACAATCCCCAAACCTGAGCCCCCACCTCCTGTGGTTCCAGTGAAACATCAGACTGGCAGCTGGAAATGCAAGGAGGGGCCCGGTCCAGGACCTGGGACCCCCAGGCGTGGAGGACAGTCAAGCCGTGGAGGCCGTGGAGGCAGGGGCCGCGGCCGAGGTGGTGGGCTCCCCTTTGTGATCAAGTTTGTTTCAAGGGCCAAAAAAGTAAAGATGGGACAATTGTCCTTGGGACTCGAATCAGGTCAAGGTCAAGGTCAACATGAGGAAAGTTGGCAGGATGTCCCCCAAAGAAGAGTTGGATCTGGACAGGGAGGGAGCCCTTGCTGGAAAAAGCAGGAACAGAAGCTGGATGACGAGGAAGAAGAGAAGAAAGAAGAAGAAGAAAAAGACAAGGAGGGAGAAGAGAAGGAAGAAAGAGCTGTAGCTGAGGAGATGATGCCAGCTGCGGAAAAGGAAGAGGCAAAGCTGCCACCACCGCCTCTGACTCCTCCAGCCCCTTCACCTCCTCCACCCCTCCCACCCCCTTCGACATCTCCACCCCCACTCTGCCCTCCACCACCACCCCCAGTGTCCCCACCACCTCTACCATCCCCTCCACCGCCTCCTGCCCAAGAGGAGCAGGAGGAATCCCCTCCTCCTGTGGTCCCAGCTACGTGCTCCAGGAAGAGGGGCCGGCCTCCCCTGACTCCCAGCCAGCGGGCGGAGCGGGAAGCTGCTCGGGCAGGGCCAGAGGGCACCTCTCCTCCCACTCCAACCCCCAGCACCGCCACGGGAGGCCCTCCGGAAGACAGTCCCACCGTGGCCCCCAAAAGCACCACCTTCCTGAAGAATATCCGGCAGTTTATTATGCCTGTGGTGAGTGCCCGCTCCTCCCGTGTCATCAAGACACCCCGGCGATTTATGGATGAAGACCCCCCCAAACCCCCAAAGGTGGAGGTCTCACCTGTCCTGCGACCTCCCATTACCACCTCCCCACCTGTTCCCCAGGAGCCAGCACCAGTCCCCTCTCCACCACGTGCCCCAACTCCTCCATCTACCCCAGTTCCACTCCCTGAGAAGAGACGGTCCATCCTAAGGGAACCCACATTTCGCTGGACCTCACTGACCCGGGAGCTGCCCCCTCCTCCCCCAGCCCCTCCACCTCCCCCGGCCCCCTCCCCACCCCCTGCTCCTGCCACCTCCTCCCGGAGGCCCCTACTCCTTCGGGCCCCTCAGTTTACCCCAAGCGAAGCCCACCTGAAGATCTACGAATCGGTGCTTACTCCTCCTCCTCTTGGGGCTCCTGAAGCCCCTGAGCCAGAGCCTCCTCCTGCCGATGACTCTCCAGCTGAGCCTGAGCCTCGGGCAGTGGGCCGCACCAACCACCTCAGCCTGCCTCGATTCGCCCCTGTGGTCACCACTCCTGTTAAGGCCGAGGTGTCCCCTCACGGGGCTCCAGCTCTGAGCAACGGGCCACAGACACAGGCTCAGCTACTGCAGCCCCTGCAGGCCTTGCAAACCCAGCTCCTGCCCCAGGCACTACCGCCACCACAGCCACAGCTGCAGCCACCGCCGTCACCACAGCAGATGCCTCCCCTGGAAAAAGCCCGGATTGCGGGCGTGGGTTCCTTGCCGCTGTCTGGGGTAGAGGAGAAGATGTTCAGCCTCCTCAAGAGAGCCAAAGTGCAGCTATTCAAGATCGATCAGCAGCAGCAGCAGAAGGTGGCAGCTTCCATGCCGGTGAGTGTGGTCCCTGGGCCCAGCGGCACACCCAGCCATCCAGCCTCCATTCTTTGCAACCCCCTAACCTTCCGCCTCCTTGGACACTTTCCAGCATTGCGGGGAACCCTCAGAACCTGCCTTTCTGTGATCCCCCACCTTCCTTTGTTCCTCCCCAGACCTGGCCCTTCTCTGTGCTAGTTCCCTGTCCCTATCTTCCTTTTTTTTTTTTTTTTATTTTTGAGACCGAGTCTCACTTTGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTTTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGTCTCTCGAGTAGCTGGGACTACAGGTGCCCATCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCTAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACACCCAGCTCCCTGTCCCTATCTTTCCTCACTGTCCAGCCCCTGACCCTGTTTATTCCCTGCCAGCTGAGCCCTGGAGGGCAGATGGAGGAGGTGGCCGGGGCTGTCAAGCAGATCTCCGACAGAGGCCCTGTCCGGTCTGAAGATGAGTCGGTGGAAGCTAAGAGAGAGCGGCCCTCAGTATGCATCGGGAGGAGGGCCCTGAAGAAGACTGGCGGGAGGAGTGGGGCTGCGGGAGCGCAAGCTGCCCACACACACTCCGATTTCTCCCCCAGGGTCCCGAGTCCCCTGTGCAAGGTCCCCGCATCAAACATGTCTGCCGTCATGCTGCTGTGGCCCTGGGTCAGGCCCGGGCCATGGTGCCTGAAGNNN
benign
302,305
Evaluate the clinical significance of the mutation at chromosome 19, position 35723730 in gene KMT2B (lysine methyltransferase 2B): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
benign
GGCGTGGGTTCCTTGCCGCTGTCTGGGGTAGAGGAGAAGATGTTCAGCCTCCTCAAGAGAGCCAAAGTGCAGCTATTCAAGATCGATCAGCAGCAGCAGCAGAAGGTGGCAGCTTCCATGCCGGTGAGTGTGGTCCCTGGGCCCAGCGGCACACCCAGCCATCCAGCCTCCATTCTTTGCAACCCCCTAACCTTCCGCCTCCTTGGACACTTTCCAGCATTGCGGGGAACCCTCAGAACCTGCCTTTCTGTGATCCCCCACCTTCCTTTGTTCCTCCCCAGACCTGGCCCTTCTCTGTGCTAGTTCCCTGTCCCTATCTTCCTTTTTTTTTTTTTTTTATTTTTGAGACCGAGTCTCACTTTGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTTTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGTCTCTCGAGTAGCTGGGACTACAGGTGCCCATCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCTAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACACCCAGCTCCCTGTCCCTATCTTTCCTCACTGTCCAGCCCCTGACCCTGTTTATTCCCTGCCAGCTGAGCCCTGGAGGGCAGATGGAGGAGGTGGCCGGGGCTGTCAAGCAGATCTCCGACAGAGGCCCTGTCCGGTCTGAAGATGAGTCGGTGGAAGCTAAGAGAGAGCGGCCCTCAGTATGCATCGGGAGGAGGGCCCTGAAGAAGACTGGCGGGAGGAGTGGGGCTGCGGGAGCGCAAGCTGCCCACACACACTCCGATTTCTCCCCCAGGGTCCCGAGTCCCCTGTGCAAGGTCCCCGCATCAAACATGTCTGCCGTCATGCTGCTGTGGCCCTGGGTCAGGCCCGGGCCATGGTGCCTGAAGATGTCCCTCGCCTCAGTGCCCTCCCTCTCCGGGATCGGCAGGACCTCGCCACAGAGGGTAGGTGGGGAGACTGGACAGCCATGTCAGGTTTGGGGATGACCCCACACTTGGGTGACATGCACCAAGAGCCTAGGAGAGAGGGAGCCAAGTCAGGTGCTCAGGGGTTAGGTGGCAAGTGGGCTGGAGTGCTAGGTCCTAGAGCAACTTCATTTGGGGGCACCAGGAACCTGGCGCTGTGAGAAAGCGAGAGCCAGGTTGTGGGAAAGCAGGGAAGTGAGGTAGAAGCCTGGTGGCTTTGTGGCTCCATCCCCTCCTCCCTGCCTGCTGCAATAGATACATCATCGGCGTCCGAGACTGAGAGTGTCCCGTCACGGTCCCGGCGGGGAAAGGTGGAGGCAGCAGGCCCTGGGGGAGAATCAGAGCCCACAGGTTCTGGAGGGACCCTGGCCCACACACCCCGGCGCTCACTGCCCTCCCATCACGGCAAGAAGATGCGCATGGCTCGATGTGGACACTGTCGGGGCTGCCTACGTGTGCAGGACTGTGGGTCCTGTGTCAACTGCCTAGACAAGCCCAAGTTTGGGGGCCCTAACACCAAGAAGCAGTGCTGTGTGTGAGTAGCTGGGGCGTGACCTCATTCCCGTGGTTGTTGGTCCCCTAGGCTTCCTACCTCACTCCTCTTCTGCCTGGCCAGAGCAGTGGGGTTGGCATTCTTGTGGAGAGCTTCCTCTCTTCCCCCAGACCACCAGTCCCCTACCCTGGTGACGTGCTGCTCCCCTCCCCAGATACCGGAAGTGTGACAAAATAGAGGCTCGGAAGATGGAACGACTGGCTAAAAAAGGTGACGAGCTTTAAGGAGCATTTCTTCTCAAAACCGTGTTAGAGTTTGTGCTGTGGAGGGAGCTGTTTTTCTTTGCTCTCCTCCCTTGCAGCTCACCCTCTCCATCTTCTCCGTTGTGTGCTTTCATAGCTCCTGCGTTCATTCCCTGCCCCGCTTCTTTCTGGCTTCTCTCCCAGTGTCCCATGTCCCTGGCTGAGCTCAAATCCTACTAAGTCCCCTGTTCCCGCAGGCCGGACGATAGTGAAGACGCTGTTGCCCTGGGATTCCGATGAATCTCCTGAGGCCTCCCCTGGTCCTCCAGGCCCACGCCGGGGGGCGGGAGCTGGGGGGCCCCGGGAGGAGGTGGTGGCCCACCCAGGGCCCGAGGAGCAGGACTCCCTCCTGCAGCGCAAGTCAGCTCGGCGCTGCGTCAAACAGCGACCCTCCTATGATATCTTCGAGGATTCGGATGACTCGGAGCCCGGGGGCCCCCCTGCTCCTCGGCGTCGGACCCCCCGAGAAAATGGTGCGAACTGCTTAATGCTTTCTCTGTTGATCATTTATTTGGTCTTGTGTCTTTTGTGTAGGAGGGACAAGGCACCCAGACCCAGGGCTCTGTCAGTCTGATAGAGAAGGTGGCTGAGGGCGGAGGAGGAGACAGTTTTTAGGTGGATGTACAGAACTGGCCTATGAGGTTCTCAGTGAGCCTAATGAGTGAGACTTAAGGGTCATCCTAGGCCTGGTGCAGTGGCTCACACTTGTAATCCCAGCACTTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGGGACCCCATCCCTATAAAAGCAAAAGTTAGTTGTATGTGGTGGCACGCATCTGTGGTCTCAGCTGCTCAGGAGGCTGAGGCAGGAGGATCGTCTGAGCCTGGGAGTTCAAGGCTGCGGTGGGCTATGGGTCACGCCACTGCATTCCAGTCTGGGCAACAGAGCGAGACCCTGCCTCAAAAAACAAGAAAAAGAATCGTCCTGGCGGGTCTTGGTTAGTTAAAGAAGGCCCTGGGAATCCAGGTAACATTTGGGGTTGTAGAAGAAGAGGGGCGTGGAAGGGGAGTGACCTCACTGCTCATTGTGTCCTGCCTAGAGCTGCCACTGCCAGAACCTGAGGAGCAGAGCCGGCCCCGCAAACCTACCCTGCAGCCTGTGTTGCAGCTCAAGGCCCGAAGGCGCCTGGACAAGGTCAGCACGGCCCGCTCCGAGAGCCCCTTCCCTCCAGGAGCTACCTGGCAAGTCAGAGTGACAGACACACCTGAGTGTCGTGGTGTGTCCACATGAGAGGACAGGCCCTGAGGGATGAGGCGGGCCTTGCCTGTCTGGAAAGCAAAGGGGTCTGGATCAGGGTCTGGGTCCAGTAGGCTGGGGGAAAGGCGGTGAGGAGAGGAGTCTGCATCACGGCCAGGCTGGCAGCTCTGAATTCCCCCACCTTTCCTCCCCAGGATGCTTTGGCCCCTGGCCCCTTTGCTTCTTTTCCCAATGGCTGGACTGGAAAGCAGAAGTCTCCCGATGGTGTGCACCGCGTCCGTGTGGATTTTAAGGTATGGCATTGAGTGGGGCGAGTCACAGAGCCTCTGGTTGGAAGAACCTCGATGACTGTGTCATCGAGAAGCCAGGTGGGTCTGCCTTGTATGCCTGGCGGCCCTCTGATCCTGCATCCTCTCTTCCCCCAGGAGGATTGTGATTTAGAGAACGTGTGGCTGATGGGGGGCCTGAGTGTGCTCACCTCTGTGCCAGGGGGCCCCCCGATGGTGTGCTTGCTGTGTGCCAGCAAAGGACTCCACGAGGTTAGATCTCTGCCTTTCTTCACAGACCCCCAGCTCTCTGTCGGTCCTCACGGCCTGATTCCTTGGGCCCTCTCAGCTGGGTCTCATCCCTTGGCCCTCTGGCCTCATGCTATGCCCATCATTCACTCCTTTACCCTGTCCCCAGCTGGTGTTCTGTCAAGTCTGCTGTGACCCATTCCACCCATTCTGCCTGGAGGAGGCCGAGCGGCCCCTGCCCCAGCATCACGACACCTGGTGCTGCCGTCGCTGCAAATTCTGCCACGTCTGTGGACGCAAAGGTCGTGGATCCAAGGTTTGGGCCCAAGGGCTGGCCAGGGTGGGTGGAGGCCTGAAGGTGAGGGCATCCCTGTGCCAGCAGGTTTCGCCATCTCTGTCTCCACATCCAACAGCACCTCCTGGAGTGCGAGCGCTGCCGCCATGCATACCACCCGGCCTGTCTGGGGC
GGCGTGGGTTCCTTGCCGCTGTCTGGGGTAGAGGAGAAGATGTTCAGCCTCCTCAAGAGAGCCAAAGTGCAGCTATTCAAGATCGATCAGCAGCAGCAGCAGAAGGTGGCAGCTTCCATGCCGGTGAGTGTGGTCCCTGGGCCCAGCGGCACACCCAGCCATCCAGCCTCCATTCTTTGCAACCCCCTAACCTTCCGCCTCCTTGGACACTTTCCAGCATTGCGGGGAACCCTCAGAACCTGCCTTTCTGTGATCCCCCACCTTCCTTTGTTCCTCCCCAGACCTGGCCCTTCTCTGTGCTAGTTCCCTGTCCCTATCTTCCTTTTTTTTTTTTTTTTATTTTTGAGACCGAGTCTCACTTTGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTTTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGTCTCTCGAGTAGCTGGGACTACAGGTGCCCATCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCTAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACACCCAGCTCCCTGTCCCTATCTTTCCTCACTGTCCAGCCCCTGACCCTGTTTATTCCCTGCCAGCTGAGCCCTGGAGGGCAGATGGAGGAGGTGGCCGGGGCTGTCAAGCAGATCTCCGACAGAGGCCCTGTCCGGTCTGAAGATGAGTCGGTGGAAGCTAAGAGAGAGCGGCCCTCAGTATGCATCGGGAGGAGGGCCCTGAAGAAGACTGGCGGGAGGAGTGGGGCTGCGGGAGCGCAAGCTGCCCACACACACTCCGATTTCTCCCCCAGGGTCCCGAGTCCCCTGTGCAAGGTCCCCGCATCAAACATGTCTGCCGTCATGCTGCTGTGGCCCTGGGTCAGGCCCGGGCCATGGTGCCTGAAGATGTCCCTCGCCTCAGTGCCCTCCCTCTCCGGGATCGGCAGGACCTCGCCACAGAGGGTAGGTGGGGAGACTGGACAGCCATGTCAGGTTTGGGGATGACCCCACACTTGGGTGACATGCACCAAGAGCCTAGGAGAGAGGGAGCCAAGTCAGGTGCTCAGGGGTTAGGTGGCAAGTGGGCTGGAGTGCTAGGTCCTAGAGCAACTTCATTTGGGGGCACCAGGAACCTGGCGCTGTGAGAAAGCGAGAGCCAGGTTGTGGGAAAGCAGGGAAGTGAGGTAGAAGCCTGGTGGCTTTGTGGCTCCATCCCCTCCTCCCTGCCTGCTGCAATAGATACATCATCGGCGTCCGAGACTGAGAGTGTCCCGTCACGGTCCCGGCGGGGAAAGGTGGAGGCAGCAGGCCCTGGGGGAGAATCAGAGCCCACAGGTTCTGGAGGGACCCTGGCCCACACACCCCGGCGCTCACTGCCCTCCCATCACGGCAAGAAGATGCGCATGGCTCGATGTGGACACTGTCGGGGCTGCCTACGTGTGCAGGACTGTGGGTCCTGTGTCAACTGCCTAGACAAGCCCAAGTTTGGGGGCCCTAACACCAAGAAGCAGTGCTGTGTGTGAGTAGCTGGGGCGTGACCTCATTCCCGTGGTTGTTGGTCCCCTAGGCTTCCTACCTCACTCCTCTTCTGCCTGGCCAGAGCAGTGGGGTTGGCATTCTTGTGGAGAGCTTCCTCTCTTCCCCCAGACCACCAGTCCCCTACCCTGGTGACGTGCTGCTCCCCTCCCCAGATACCGGAAGTGTGACAAAATAGAGGCTCGGAAGATGGAACGACTGGCTAAAAAAGGTGACGAGCTTTAAGGAGCATTTCTTCTCAAAACCGTGTTAGAGTTTGTGCTGTGGAGGGAGCTGTTTTTCTTTGCTCTCCTCCCTTGCAGCTCACCCTCTCCATCTTCTCCGTTGTGTGCTTTCATAGCTCCTGCGTTCATTCCCTGCCCCGCTTCTTTCTGGCTTCTCTCCCAGTGTCCCATGTCCCTGGCTGAGCTCAAATCCTACTAAGTCCCCTGTTCCCGCAGGGCCGGACGATAGTGAAGACGCTGTTGCCCTGGGATTCCGATGAATCTCCTGAGGCCTCCCCTGGTCCTCCAGGCCCACGCCGGGGGGCGGGAGCTGGGGGGCCCCGGGAGGAGGTGGTGGCCCACCCAGGGCCCGAGGAGCAGGACTCCCTCCTGCAGCGCAAGTCAGCTCGGCGCTGCGTCAAACAGCGACCCTCCTATGATATCTTCGAGGATTCGGATGACTCGGAGCCCGGGGGCCCCCCTGCTCCTCGGCGTCGGACCCCCCGAGAAAATGGTGCGAACTGCTTAATGCTTTCTCTGTTGATCATTTATTTGGTCTTGTGTCTTTTGTGTAGGAGGGACAAGGCACCCAGACCCAGGGCTCTGTCAGTCTGATAGAGAAGGTGGCTGAGGGCGGAGGAGGAGACAGTTTTTAGGTGGATGTACAGAACTGGCCTATGAGGTTCTCAGTGAGCCTAATGAGTGAGACTTAAGGGTCATCCTAGGCCTGGTGCAGTGGCTCACACTTGTAATCCCAGCACTTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGGGACCCCATCCCTATAAAAGCAAAAGTTAGTTGTATGTGGTGGCACGCATCTGTGGTCTCAGCTGCTCAGGAGGCTGAGGCAGGAGGATCGTCTGAGCCTGGGAGTTCAAGGCTGCGGTGGGCTATGGGTCACGCCACTGCATTCCAGTCTGGGCAACAGAGCGAGACCCTGCCTCAAAAAACAAGAAAAAGAATCGTCCTGGCGGGTCTTGGTTAGTTAAAGAAGGCCCTGGGAATCCAGGTAACATTTGGGGTTGTAGAAGAAGAGGGGCGTGGAAGGGGAGTGACCTCACTGCTCATTGTGTCCTGCCTAGAGCTGCCACTGCCAGAACCTGAGGAGCAGAGCCGGCCCCGCAAACCTACCCTGCAGCCTGTGTTGCAGCTCAAGGCCCGAAGGCGCCTGGACAAGGTCAGCACGGCCCGCTCCGAGAGCCCCTTCCCTCCAGGAGCTACCTGGCAAGTCAGAGTGACAGACACACCTGAGTGTCGTGGTGTGTCCACATGAGAGGACAGGCCCTGAGGGATGAGGCGGGCCTTGCCTGTCTGGAAAGCAAAGGGGTCTGGATCAGGGTCTGGGTCCAGTAGGCTGGGGGAAAGGCGGTGAGGAGAGGAGTCTGCATCACGGCCAGGCTGGCAGCTCTGAATTCCCCCACCTTTCCTCCCCAGGATGCTTTGGCCCCTGGCCCCTTTGCTTCTTTTCCCAATGGCTGGACTGGAAAGCAGAAGTCTCCCGATGGTGTGCACCGCGTCCGTGTGGATTTTAAGGTATGGCATTGAGTGGGGCGAGTCACAGAGCCTCTGGTTGGAAGAACCTCGATGACTGTGTCATCGAGAAGCCAGGTGGGTCTGCCTTGTATGCCTGGCGGCCCTCTGATCCTGCATCCTCTCTTCCCCCAGGAGGATTGTGATTTAGAGAACGTGTGGCTGATGGGGGGCCTGAGTGTGCTCACCTCTGTGCCAGGGGGCCCCCCGATGGTGTGCTTGCTGTGTGCCAGCAAAGGACTCCACGAGGTTAGATCTCTGCCTTTCTTCACAGACCCCCAGCTCTCTGTCGGTCCTCACGGCCTGATTCCTTGGGCCCTCTCAGCTGGGTCTCATCCCTTGGCCCTCTGGCCTCATGCTATGCCCATCATTCACTCCTTTACCCTGTCCCCAGCTGGTGTTCTGTCAAGTCTGCTGTGACCCATTCCACCCATTCTGCCTGGAGGAGGCCGAGCGGCCCCTGCCCCAGCATCACGACACCTGGTGCTGCCGTCGCTGCAAATTCTGCCACGTCTGTGGACGCAAAGGTCGTGGATCCAAGGTTTGGGCCCAAGGGCTGGCCAGGGTGGGTGGAGGCCTGAAGGTGAGGGCATCCCTGTGCCAGCAGGTTTCGCCATCTCTGTCTCCACATCCAACAGCACCTCCTGGAGTGCGAGCGCTGCCGCCATGCATACCACCCGGCCTGTCTGGGG
benign
302,354
Clinically, how would you classify the variant at chromosome 19, position 35723812, gene KMT2B (lysine methyltransferase 2B): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Inborn_genetic_diseases']
TCGATCAGCAGCAGCAGCAGAAGGTGGCAGCTTCCATGCCGGTGAGTGTGGTCCCTGGGCCCAGCGGCACACCCAGCCATCCAGCCTCCATTCTTTGCAACCCCCTAACCTTCCGCCTCCTTGGACACTTTCCAGCATTGCGGGGAACCCTCAGAACCTGCCTTTCTGTGATCCCCCACCTTCCTTTGTTCCTCCCCAGACCTGGCCCTTCTCTGTGCTAGTTCCCTGTCCCTATCTTCCTTTTTTTTTTTTTTTTATTTTTGAGACCGAGTCTCACTTTGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTTTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGTCTCTCGAGTAGCTGGGACTACAGGTGCCCATCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCTAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACACCCAGCTCCCTGTCCCTATCTTTCCTCACTGTCCAGCCCCTGACCCTGTTTATTCCCTGCCAGCTGAGCCCTGGAGGGCAGATGGAGGAGGTGGCCGGGGCTGTCAAGCAGATCTCCGACAGAGGCCCTGTCCGGTCTGAAGATGAGTCGGTGGAAGCTAAGAGAGAGCGGCCCTCAGTATGCATCGGGAGGAGGGCCCTGAAGAAGACTGGCGGGAGGAGTGGGGCTGCGGGAGCGCAAGCTGCCCACACACACTCCGATTTCTCCCCCAGGGTCCCGAGTCCCCTGTGCAAGGTCCCCGCATCAAACATGTCTGCCGTCATGCTGCTGTGGCCCTGGGTCAGGCCCGGGCCATGGTGCCTGAAGATGTCCCTCGCCTCAGTGCCCTCCCTCTCCGGGATCGGCAGGACCTCGCCACAGAGGGTAGGTGGGGAGACTGGACAGCCATGTCAGGTTTGGGGATGACCCCACACTTGGGTGACATGCACCAAGAGCCTAGGAGAGAGGGAGCCAAGTCAGGTGCTCAGGGGTTAGGTGGCAAGTGGGCTGGAGTGCTAGGTCCTAGAGCAACTTCATTTGGGGGCACCAGGAACCTGGCGCTGTGAGAAAGCGAGAGCCAGGTTGTGGGAAAGCAGGGAAGTGAGGTAGAAGCCTGGTGGCTTTGTGGCTCCATCCCCTCCTCCCTGCCTGCTGCAATAGATACATCATCGGCGTCCGAGACTGAGAGTGTCCCGTCACGGTCCCGGCGGGGAAAGGTGGAGGCAGCAGGCCCTGGGGGAGAATCAGAGCCCACAGGTTCTGGAGGGACCCTGGCCCACACACCCCGGCGCTCACTGCCCTCCCATCACGGCAAGAAGATGCGCATGGCTCGATGTGGACACTGTCGGGGCTGCCTACGTGTGCAGGACTGTGGGTCCTGTGTCAACTGCCTAGACAAGCCCAAGTTTGGGGGCCCTAACACCAAGAAGCAGTGCTGTGTGTGAGTAGCTGGGGCGTGACCTCATTCCCGTGGTTGTTGGTCCCCTAGGCTTCCTACCTCACTCCTCTTCTGCCTGGCCAGAGCAGTGGGGTTGGCATTCTTGTGGAGAGCTTCCTCTCTTCCCCCAGACCACCAGTCCCCTACCCTGGTGACGTGCTGCTCCCCTCCCCAGATACCGGAAGTGTGACAAAATAGAGGCTCGGAAGATGGAACGACTGGCTAAAAAAGGTGACGAGCTTTAAGGAGCATTTCTTCTCAAAACCGTGTTAGAGTTTGTGCTGTGGAGGGAGCTGTTTTTCTTTGCTCTCCTCCCTTGCAGCTCACCCTCTCCATCTTCTCCGTTGTGTGCTTTCATAGCTCCTGCGTTCATTCCCTGCCCCGCTTCTTTCTGGCTTCTCTCCCAGTGTCCCATGTCCCTGGCTGAGCTCAAATCCTACTAAGTCCCCTGTTCCCGCAGGCCGGACGATAGTGAAGACGCTGTTGCCCTGGGATTCCGATGAATCTCCTGAGGCCTCCCCTGGTCCTCCAGGCCCACGCCGGGGGGCGGGAGCTGGGGGGCCCCGGGAGGAGGTGGTGGCCCACCCAGGGCCCGAGGAGCAGGACTCCCTCCTGCAGCGCAAGTCAGCTCGGCGCTGCGTCAAACAGCGACCCTCCTATGATATCTTCGAGGATTCGGATGACTCGGAGCCCGGGGGCCCCCCTGCTCCTCGGCGTCGGACCCCCCGAGAAAATGGTGCGAACTGCTTAATGCTTTCTCTGTTGATCATTTATTTGGTCTTGTGTCTTTTGTGTAGGAGGGACAAGGCACCCAGACCCAGGGCTCTGTCAGTCTGATAGAGAAGGTGGCTGAGGGCGGAGGAGGAGACAGTTTTTAGGTGGATGTACAGAACTGGCCTATGAGGTTCTCAGTGAGCCTAATGAGTGAGACTTAAGGGTCATCCTAGGCCTGGTGCAGTGGCTCACACTTGTAATCCCAGCACTTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGGGACCCCATCCCTATAAAAGCAAAAGTTAGTTGTATGTGGTGGCACGCATCTGTGGTCTCAGCTGCTCAGGAGGCTGAGGCAGGAGGATCGTCTGAGCCTGGGAGTTCAAGGCTGCGGTGGGCTATGGGTCACGCCACTGCATTCCAGTCTGGGCAACAGAGCGAGACCCTGCCTCAAAAAACAAGAAAAAGAATCGTCCTGGCGGGTCTTGGTTAGTTAAAGAAGGCCCTGGGAATCCAGGTAACATTTGGGGTTGTAGAAGAAGAGGGGCGTGGAAGGGGAGTGACCTCACTGCTCATTGTGTCCTGCCTAGAGCTGCCACTGCCAGAACCTGAGGAGCAGAGCCGGCCCCGCAAACCTACCCTGCAGCCTGTGTTGCAGCTCAAGGCCCGAAGGCGCCTGGACAAGGTCAGCACGGCCCGCTCCGAGAGCCCCTTCCCTCCAGGAGCTACCTGGCAAGTCAGAGTGACAGACACACCTGAGTGTCGTGGTGTGTCCACATGAGAGGACAGGCCCTGAGGGATGAGGCGGGCCTTGCCTGTCTGGAAAGCAAAGGGGTCTGGATCAGGGTCTGGGTCCAGTAGGCTGGGGGAAAGGCGGTGAGGAGAGGAGTCTGCATCACGGCCAGGCTGGCAGCTCTGAATTCCCCCACCTTTCCTCCCCAGGATGCTTTGGCCCCTGGCCCCTTTGCTTCTTTTCCCAATGGCTGGACTGGAAAGCAGAAGTCTCCCGATGGTGTGCACCGCGTCCGTGTGGATTTTAAGGTATGGCATTGAGTGGGGCGAGTCACAGAGCCTCTGGTTGGAAGAACCTCGATGACTGTGTCATCGAGAAGCCAGGTGGGTCTGCCTTGTATGCCTGGCGGCCCTCTGATCCTGCATCCTCTCTTCCCCCAGGAGGATTGTGATTTAGAGAACGTGTGGCTGATGGGGGGCCTGAGTGTGCTCACCTCTGTGCCAGGGGGCCCCCCGATGGTGTGCTTGCTGTGTGCCAGCAAAGGACTCCACGAGGTTAGATCTCTGCCTTTCTTCACAGACCCCCAGCTCTCTGTCGGTCCTCACGGCCTGATTCCTTGGGCCCTCTCAGCTGGGTCTCATCCCTTGGCCCTCTGGCCTCATGCTATGCCCATCATTCACTCCTTTACCCTGTCCCCAGCTGGTGTTCTGTCAAGTCTGCTGTGACCCATTCCACCCATTCTGCCTGGAGGAGGCCGAGCGGCCCCTGCCCCAGCATCACGACACCTGGTGCTGCCGTCGCTGCAAATTCTGCCACGTCTGTGGACGCAAAGGTCGTGGATCCAAGGTTTGGGCCCAAGGGCTGGCCAGGGTGGGTGGAGGCCTGAAGGTGAGGGCATCCCTGTGCCAGCAGGTTTCGCCATCTCTGTCTCCACATCCAACAGCACCTCCTGGAGTGCGAGCGCTGCCGCCATGCATACCACCCGGCCTGTCTGGGGCCCAGCTATCCAACCCGGGCCACGCGCAAACGGCGCCACTGGGTGAGAGATGAGGTTCACCCACTTGCTTTGTCTCTAATGAA
TCGATCAGCAGCAGCAGCAGAAGGTGGCAGCTTCCATGCCGGTGAGTGTGGTCCCTGGGCCCAGCGGCACACCCAGCCATCCAGCCTCCATTCTTTGCAACCCCCTAACCTTCCGCCTCCTTGGACACTTTCCAGCATTGCGGGGAACCCTCAGAACCTGCCTTTCTGTGATCCCCCACCTTCCTTTGTTCCTCCCCAGACCTGGCCCTTCTCTGTGCTAGTTCCCTGTCCCTATCTTCCTTTTTTTTTTTTTTTTATTTTTGAGACCGAGTCTCACTTTGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTTTGCCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGTCTCTCGAGTAGCTGGGACTACAGGTGCCCATCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACATTGGCTAGGCTGGTCTTGAACTCCTGACCTCGTGATCTGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACCACACCCAGCTCCCTGTCCCTATCTTTCCTCACTGTCCAGCCCCTGACCCTGTTTATTCCCTGCCAGCTGAGCCCTGGAGGGCAGATGGAGGAGGTGGCCGGGGCTGTCAAGCAGATCTCCGACAGAGGCCCTGTCCGGTCTGAAGATGAGTCGGTGGAAGCTAAGAGAGAGCGGCCCTCAGTATGCATCGGGAGGAGGGCCCTGAAGAAGACTGGCGGGAGGAGTGGGGCTGCGGGAGCGCAAGCTGCCCACACACACTCCGATTTCTCCCCCAGGGTCCCGAGTCCCCTGTGCAAGGTCCCCGCATCAAACATGTCTGCCGTCATGCTGCTGTGGCCCTGGGTCAGGCCCGGGCCATGGTGCCTGAAGATGTCCCTCGCCTCAGTGCCCTCCCTCTCCGGGATCGGCAGGACCTCGCCACAGAGGGTAGGTGGGGAGACTGGACAGCCATGTCAGGTTTGGGGATGACCCCACACTTGGGTGACATGCACCAAGAGCCTAGGAGAGAGGGAGCCAAGTCAGGTGCTCAGGGGTTAGGTGGCAAGTGGGCTGGAGTGCTAGGTCCTAGAGCAACTTCATTTGGGGGCACCAGGAACCTGGCGCTGTGAGAAAGCGAGAGCCAGGTTGTGGGAAAGCAGGGAAGTGAGGTAGAAGCCTGGTGGCTTTGTGGCTCCATCCCCTCCTCCCTGCCTGCTGCAATAGATACATCATCGGCGTCCGAGACTGAGAGTGTCCCGTCACGGTCCCGGCGGGGAAAGGTGGAGGCAGCAGGCCCTGGGGGAGAATCAGAGCCCACAGGTTCTGGAGGGACCCTGGCCCACACACCCCGGCGCTCACTGCCCTCCCATCACGGCAAGAAGATGCGCATGGCTCGATGTGGACACTGTCGGGGCTGCCTACGTGTGCAGGACTGTGGGTCCTGTGTCAACTGCCTAGACAAGCCCAAGTTTGGGGGCCCTAACACCAAGAAGCAGTGCTGTGTGTGAGTAGCTGGGGCGTGACCTCATTCCCGTGGTTGTTGGTCCCCTAGGCTTCCTACCTCACTCCTCTTCTGCCTGGCCAGAGCAGTGGGGTTGGCATTCTTGTGGAGAGCTTCCTCTCTTCCCCCAGACCACCAGTCCCCTACCCTGGTGACGTGCTGCTCCCCTCCCCAGATACCGGAAGTGTGACAAAATAGAGGCTCGGAAGATGGAACGACTGGCTAAAAAAGGTGACGAGCTTTAAGGAGCATTTCTTCTCAAAACCGTGTTAGAGTTTGTGCTGTGGAGGGAGCTGTTTTTCTTTGCTCTCCTCCCTTGCAGCTCACCCTCTCCATCTTCTCCGTTGTGTGCTTTCATAGCTCCTGCGTTCATTCCCTGCCCCGCTTCTTTCTGGCTTCTCTCCCAGTGTCCCATGTCCCTGGCTGAGCTCAAATCCTACTAAGTCCCCTGTTCCCGCAGGCCGGACGATAGTGAAGACGCTGTTGCCCTGGGATTCCGATGAATCTCCTGAGGCCTCCCCTGGTCCTCCAGGCCCACGCCGGGGGGGCGGGAGCTGGGGGGCCCCGGGAGGAGGTGGTGGCCCACCCAGGGCCCGAGGAGCAGGACTCCCTCCTGCAGCGCAAGTCAGCTCGGCGCTGCGTCAAACAGCGACCCTCCTATGATATCTTCGAGGATTCGGATGACTCGGAGCCCGGGGGCCCCCCTGCTCCTCGGCGTCGGACCCCCCGAGAAAATGGTGCGAACTGCTTAATGCTTTCTCTGTTGATCATTTATTTGGTCTTGTGTCTTTTGTGTAGGAGGGACAAGGCACCCAGACCCAGGGCTCTGTCAGTCTGATAGAGAAGGTGGCTGAGGGCGGAGGAGGAGACAGTTTTTAGGTGGATGTACAGAACTGGCCTATGAGGTTCTCAGTGAGCCTAATGAGTGAGACTTAAGGGTCATCCTAGGCCTGGTGCAGTGGCTCACACTTGTAATCCCAGCACTTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGGGACCCCATCCCTATAAAAGCAAAAGTTAGTTGTATGTGGTGGCACGCATCTGTGGTCTCAGCTGCTCAGGAGGCTGAGGCAGGAGGATCGTCTGAGCCTGGGAGTTCAAGGCTGCGGTGGGCTATGGGTCACGCCACTGCATTCCAGTCTGGGCAACAGAGCGAGACCCTGCCTCAAAAAACAAGAAAAAGAATCGTCCTGGCGGGTCTTGGTTAGTTAAAGAAGGCCCTGGGAATCCAGGTAACATTTGGGGTTGTAGAAGAAGAGGGGCGTGGAAGGGGAGTGACCTCACTGCTCATTGTGTCCTGCCTAGAGCTGCCACTGCCAGAACCTGAGGAGCAGAGCCGGCCCCGCAAACCTACCCTGCAGCCTGTGTTGCAGCTCAAGGCCCGAAGGCGCCTGGACAAGGTCAGCACGGCCCGCTCCGAGAGCCCCTTCCCTCCAGGAGCTACCTGGCAAGTCAGAGTGACAGACACACCTGAGTGTCGTGGTGTGTCCACATGAGAGGACAGGCCCTGAGGGATGAGGCGGGCCTTGCCTGTCTGGAAAGCAAAGGGGTCTGGATCAGGGTCTGGGTCCAGTAGGCTGGGGGAAAGGCGGTGAGGAGAGGAGTCTGCATCACGGCCAGGCTGGCAGCTCTGAATTCCCCCACCTTTCCTCCCCAGGATGCTTTGGCCCCTGGCCCCTTTGCTTCTTTTCCCAATGGCTGGACTGGAAAGCAGAAGTCTCCCGATGGTGTGCACCGCGTCCGTGTGGATTTTAAGGTATGGCATTGAGTGGGGCGAGTCACAGAGCCTCTGGTTGGAAGAACCTCGATGACTGTGTCATCGAGAAGCCAGGTGGGTCTGCCTTGTATGCCTGGCGGCCCTCTGATCCTGCATCCTCTCTTCCCCCAGGAGGATTGTGATTTAGAGAACGTGTGGCTGATGGGGGGCCTGAGTGTGCTCACCTCTGTGCCAGGGGGCCCCCCGATGGTGTGCTTGCTGTGTGCCAGCAAAGGACTCCACGAGGTTAGATCTCTGCCTTTCTTCACAGACCCCCAGCTCTCTGTCGGTCCTCACGGCCTGATTCCTTGGGCCCTCTCAGCTGGGTCTCATCCCTTGGCCCTCTGGCCTCATGCTATGCCCATCATTCACTCCTTTACCCTGTCCCCAGCTGGTGTTCTGTCAAGTCTGCTGTGACCCATTCCACCCATTCTGCCTGGAGGAGGCCGAGCGGCCCCTGCCCCAGCATCACGACACCTGGTGCTGCCGTCGCTGCAAATTCTGCCACGTCTGTGGACGCAAAGGTCGTGGATCCAAGGTTTGGGCCCAAGGGCTGGCCAGGGTGGGTGGAGGCCTGAAGGTGAGGGCATCCCTGTGCCAGCAGGTTTCGCCATCTCTGTCTCCACATCCAACAGCACCTCCTGGAGTGCGAGCGCTGCCGCCATGCATACCACCCGGCCTGTCTGGGGCCCAGCTATCCAACCCGGGCCACGCGCAAACGGCGCCACTGGGTGAGAGATGAGGTTCACCCACTTGCTTTGTCTCTAATGA
pathogenic
302,355
Determine whether the variant at chromosome 19, position 35724630, in gene KMT2B (lysine methyltransferase 2B) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
benign
TGTGCAAGGTCCCCGCATCAAACATGTCTGCCGTCATGCTGCTGTGGCCCTGGGTCAGGCCCGGGCCATGGTGCCTGAAGATGTCCCTCGCCTCAGTGCCCTCCCTCTCCGGGATCGGCAGGACCTCGCCACAGAGGGTAGGTGGGGAGACTGGACAGCCATGTCAGGTTTGGGGATGACCCCACACTTGGGTGACATGCACCAAGAGCCTAGGAGAGAGGGAGCCAAGTCAGGTGCTCAGGGGTTAGGTGGCAAGTGGGCTGGAGTGCTAGGTCCTAGAGCAACTTCATTTGGGGGCACCAGGAACCTGGCGCTGTGAGAAAGCGAGAGCCAGGTTGTGGGAAAGCAGGGAAGTGAGGTAGAAGCCTGGTGGCTTTGTGGCTCCATCCCCTCCTCCCTGCCTGCTGCAATAGATACATCATCGGCGTCCGAGACTGAGAGTGTCCCGTCACGGTCCCGGCGGGGAAAGGTGGAGGCAGCAGGCCCTGGGGGAGAATCAGAGCCCACAGGTTCTGGAGGGACCCTGGCCCACACACCCCGGCGCTCACTGCCCTCCCATCACGGCAAGAAGATGCGCATGGCTCGATGTGGACACTGTCGGGGCTGCCTACGTGTGCAGGACTGTGGGTCCTGTGTCAACTGCCTAGACAAGCCCAAGTTTGGGGGCCCTAACACCAAGAAGCAGTGCTGTGTGTGAGTAGCTGGGGCGTGACCTCATTCCCGTGGTTGTTGGTCCCCTAGGCTTCCTACCTCACTCCTCTTCTGCCTGGCCAGAGCAGTGGGGTTGGCATTCTTGTGGAGAGCTTCCTCTCTTCCCCCAGACCACCAGTCCCCTACCCTGGTGACGTGCTGCTCCCCTCCCCAGATACCGGAAGTGTGACAAAATAGAGGCTCGGAAGATGGAACGACTGGCTAAAAAAGGTGACGAGCTTTAAGGAGCATTTCTTCTCAAAACCGTGTTAGAGTTTGTGCTGTGGAGGGAGCTGTTTTTCTTTGCTCTCCTCCCTTGCAGCTCACCCTCTCCATCTTCTCCGTTGTGTGCTTTCATAGCTCCTGCGTTCATTCCCTGCCCCGCTTCTTTCTGGCTTCTCTCCCAGTGTCCCATGTCCCTGGCTGAGCTCAAATCCTACTAAGTCCCCTGTTCCCGCAGGCCGGACGATAGTGAAGACGCTGTTGCCCTGGGATTCCGATGAATCTCCTGAGGCCTCCCCTGGTCCTCCAGGCCCACGCCGGGGGGCGGGAGCTGGGGGGCCCCGGGAGGAGGTGGTGGCCCACCCAGGGCCCGAGGAGCAGGACTCCCTCCTGCAGCGCAAGTCAGCTCGGCGCTGCGTCAAACAGCGACCCTCCTATGATATCTTCGAGGATTCGGATGACTCGGAGCCCGGGGGCCCCCCTGCTCCTCGGCGTCGGACCCCCCGAGAAAATGGTGCGAACTGCTTAATGCTTTCTCTGTTGATCATTTATTTGGTCTTGTGTCTTTTGTGTAGGAGGGACAAGGCACCCAGACCCAGGGCTCTGTCAGTCTGATAGAGAAGGTGGCTGAGGGCGGAGGAGGAGACAGTTTTTAGGTGGATGTACAGAACTGGCCTATGAGGTTCTCAGTGAGCCTAATGAGTGAGACTTAAGGGTCATCCTAGGCCTGGTGCAGTGGCTCACACTTGTAATCCCAGCACTTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGGGACCCCATCCCTATAAAAGCAAAAGTTAGTTGTATGTGGTGGCACGCATCTGTGGTCTCAGCTGCTCAGGAGGCTGAGGCAGGAGGATCGTCTGAGCCTGGGAGTTCAAGGCTGCGGTGGGCTATGGGTCACGCCACTGCATTCCAGTCTGGGCAACAGAGCGAGACCCTGCCTCAAAAAACAAGAAAAAGAATCGTCCTGGCGGGTCTTGGTTAGTTAAAGAAGGCCCTGGGAATCCAGGTAACATTTGGGGTTGTAGAAGAAGAGGGGCGTGGAAGGGGAGTGACCTCACTGCTCATTGTGTCCTGCCTAGAGCTGCCACTGCCAGAACCTGAGGAGCAGAGCCGGCCCCGCAAACCTACCCTGCAGCCTGTGTTGCAGCTCAAGGCCCGAAGGCGCCTGGACAAGGTCAGCACGGCCCGCTCCGAGAGCCCCTTCCCTCCAGGAGCTACCTGGCAAGTCAGAGTGACAGACACACCTGAGTGTCGTGGTGTGTCCACATGAGAGGACAGGCCCTGAGGGATGAGGCGGGCCTTGCCTGTCTGGAAAGCAAAGGGGTCTGGATCAGGGTCTGGGTCCAGTAGGCTGGGGGAAAGGCGGTGAGGAGAGGAGTCTGCATCACGGCCAGGCTGGCAGCTCTGAATTCCCCCACCTTTCCTCCCCAGGATGCTTTGGCCCCTGGCCCCTTTGCTTCTTTTCCCAATGGCTGGACTGGAAAGCAGAAGTCTCCCGATGGTGTGCACCGCGTCCGTGTGGATTTTAAGGTATGGCATTGAGTGGGGCGAGTCACAGAGCCTCTGGTTGGAAGAACCTCGATGACTGTGTCATCGAGAAGCCAGGTGGGTCTGCCTTGTATGCCTGGCGGCCCTCTGATCCTGCATCCTCTCTTCCCCCAGGAGGATTGTGATTTAGAGAACGTGTGGCTGATGGGGGGCCTGAGTGTGCTCACCTCTGTGCCAGGGGGCCCCCCGATGGTGTGCTTGCTGTGTGCCAGCAAAGGACTCCACGAGGTTAGATCTCTGCCTTTCTTCACAGACCCCCAGCTCTCTGTCGGTCCTCACGGCCTGATTCCTTGGGCCCTCTCAGCTGGGTCTCATCCCTTGGCCCTCTGGCCTCATGCTATGCCCATCATTCACTCCTTTACCCTGTCCCCAGCTGGTGTTCTGTCAAGTCTGCTGTGACCCATTCCACCCATTCTGCCTGGAGGAGGCCGAGCGGCCCCTGCCCCAGCATCACGACACCTGGTGCTGCCGTCGCTGCAAATTCTGCCACGTCTGTGGACGCAAAGGTCGTGGATCCAAGGTTTGGGCCCAAGGGCTGGCCAGGGTGGGTGGAGGCCTGAAGGTGAGGGCATCCCTGTGCCAGCAGGTTTCGCCATCTCTGTCTCCACATCCAACAGCACCTCCTGGAGTGCGAGCGCTGCCGCCATGCATACCACCCGGCCTGTCTGGGGCCCAGCTATCCAACCCGGGCCACGCGCAAACGGCGCCACTGGGTGAGAGATGAGGTTCACCCACTTGCTTTGTCTCTAATGAATATCACCACCACCCCCAAACTTGCTCTAGGCTGGGGCTCTCAGGAGGAGCAGAGGTTGGGGATCCTCTTAAGAATTGATTAGTAATGTTTCCTCTTCAAAAATTTCACATAGGTCAGATTTATATTCAGAATTTGCATGGAGTGGTTTTAGGGGCTTATGAATCTCACATTCCGTGGGCTCAGAATCCCCTGCTATAGCCTGATGTCCTCTCCTGCCCTCATGTTCCTCCTCCGTGTCTGTCCTGCGTGTTTTCTCCTCTTACCTGTCCCTCCTTGCCTGCTTCCTGCATATCCCCAATTCCTCCTCGCCCGTCTCCCGCTCATGTTGCTCCAGTCCAGTGCCTGGTTTTCCCCTAACATCGCCCTGCTCCCCCAGATCTGTTCAGCCTGTGTGCGCTGTAAGAGCTGTGGGGCAACTCCAGGCAAGAACTGGGACGTCGAGTGGTCTGGAGATTACAGCCTCTGCCCCAGGTGCACCCAGCTATATGAGAAAGGTGGGGACCGGGCAGGGGAACTGGATGCTGGGGGCCACAGGGGAATGGCCAGGCTCTTTTACAGGCTTTAGCACAGACCCTCTTTTCTCATGGCTTTCCACCTTGTAGCTATGGGACTATCTCTTCAACTCAGGGAACTCTTCCACAGGAGTCCATCCAGTATGTAAAACAGGGACACATAGCTCCTCTGAGGGTGGTGGGAGTGGAAGGCCTGGGACCCCACTGTCTTGGTGTCTGAGGTACTTCCTGGAACCTCACGTCTCCATTGAGCGGTTTGGAAGCCTTATTCAGGCAGTACATTAGCAAGGCCCTGTGTTCTGCAGA
TGTGCAAGGTCCCCGCATCAAACATGTCTGCCGTCATGCTGCTGTGGCCCTGGGTCAGGCCCGGGCCATGGTGCCTGAAGATGTCCCTCGCCTCAGTGCCCTCCCTCTCCGGGATCGGCAGGACCTCGCCACAGAGGGTAGGTGGGGAGACTGGACAGCCATGTCAGGTTTGGGGATGACCCCACACTTGGGTGACATGCACCAAGAGCCTAGGAGAGAGGGAGCCAAGTCAGGTGCTCAGGGGTTAGGTGGCAAGTGGGCTGGAGTGCTAGGTCCTAGAGCAACTTCATTTGGGGGCACCAGGAACCTGGCGCTGTGAGAAAGCGAGAGCCAGGTTGTGGGAAAGCAGGGAAGTGAGGTAGAAGCCTGGTGGCTTTGTGGCTCCATCCCCTCCTCCCTGCCTGCTGCAATAGATACATCATCGGCGTCCGAGACTGAGAGTGTCCCGTCACGGTCCCGGCGGGGAAAGGTGGAGGCAGCAGGCCCTGGGGGAGAATCAGAGCCCACAGGTTCTGGAGGGACCCTGGCCCACACACCCCGGCGCTCACTGCCCTCCCATCACGGCAAGAAGATGCGCATGGCTCGATGTGGACACTGTCGGGGCTGCCTACGTGTGCAGGACTGTGGGTCCTGTGTCAACTGCCTAGACAAGCCCAAGTTTGGGGGCCCTAACACCAAGAAGCAGTGCTGTGTGTGAGTAGCTGGGGCGTGACCTCATTCCCGTGGTTGTTGGTCCCCTAGGCTTCCTACCTCACTCCTCTTCTGCCTGGCCAGAGCAGTGGGGTTGGCATTCTTGTGGAGAGCTTCCTCTCTTCCCCCAGACCACCAGTCCCCTACCCTGGTGACGTGCTGCTCCCCTCCCCAGATACCGGAAGTGTGACAAAATAGAGGCTCGGAAGATGGAACGACTGGCTAAAAAAGGTGACGAGCTTTAAGGAGCATTTCTTCTCAAAACCGTGTTAGAGTTTGTGCTGTGGAGGGAGCTGTTTTTCTTTGCTCTCCTCCCTTGCAGCTCACCCTCTCCATCTTCTCCGTTGTGTGCTTTCATAGCTCCTGCGTTCATTCCCTGCCCCGCTTCTTTCTGGCTTCTCTCCCAGTGTCCCATGTCCCTGGCTGAGCTCAAATCCTACTAAGTCCCCTGTTCCCGCAGGCCGGACGATAGTGAAGACGCTGTTGCCCTGGGATTCCGATGAATCTCCTGAGGCCTCCCCTGGTCCTCCAGGCCCACGCCGGGGGGCGGGAGCTGGGGGGCCCCGGGAGGAGGTGGTGGCCCACCCAGGGCCCGAGGAGCAGGACTCCCTCCTGCAGCGCAAGTCAGCTCGGCGCTGCGTCAAACAGCGACCCTCCTATGATATCTTCGAGGATTCGGATGACTCGGAGCCCGGGGGCCCCCCTGCTCCTCGGCGTCGGACCCCCCGAGAAAATGGTGCGAACTGCTTAATGCTTTCTCTGTTGATCATTTATTTGGTCTTGTGTCTTTTGTGTAGGAGGGACAAGGCACCCAGACCCAGGGCTCTGTCAGTCTGATAGAGAAGGTGGCTGAGGGCGGAGGAGGAGACAGTTTTTAGGTGGATGTACAGAACTGGCCTATGAGGTTCTCAGTGAGCCTAATGAGTGAGACTTAAGGGTCATCCTAGGCCTGGTGCAGTGGCTCACACTTGTAATCCCAGCACTTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGGGACCCCATCCCTATAAAAGCAAAAGTTAGTTGTATGTGGTGGCACGCATCTGTGGTCTCAGCTGCTCAGGAGGCTGAGGCAGGAGGATCGTCTGAGCCTGGGAGTTCAAGGCTGCGGTGGGCTATGGGTCACGCCACTGCATTCCAGTCTGGGCAACAGAGCGAGACCCTGCCTCAAAAAACAAGAAAAAGAATCGTCCTGGCGGGTCTTGGTTAGTTAAAGAAGGCCCTGGGAATCCAGGTAACATTTGGGGTTGTAGAAGAAGAGGGGCGTGGAAGGGGAGTGACCTCACTGCTCATTGTGTCCTCCTAGAGCTGCCACTGCCAGAACCTGAGGAGCAGAGCCGGCCCCGCAAACCTACCCTGCAGCCTGTGTTGCAGCTCAAGGCCCGAAGGCGCCTGGACAAGGTCAGCACGGCCCGCTCCGAGAGCCCCTTCCCTCCAGGAGCTACCTGGCAAGTCAGAGTGACAGACACACCTGAGTGTCGTGGTGTGTCCACATGAGAGGACAGGCCCTGAGGGATGAGGCGGGCCTTGCCTGTCTGGAAAGCAAAGGGGTCTGGATCAGGGTCTGGGTCCAGTAGGCTGGGGGAAAGGCGGTGAGGAGAGGAGTCTGCATCACGGCCAGGCTGGCAGCTCTGAATTCCCCCACCTTTCCTCCCCAGGATGCTTTGGCCCCTGGCCCCTTTGCTTCTTTTCCCAATGGCTGGACTGGAAAGCAGAAGTCTCCCGATGGTGTGCACCGCGTCCGTGTGGATTTTAAGGTATGGCATTGAGTGGGGCGAGTCACAGAGCCTCTGGTTGGAAGAACCTCGATGACTGTGTCATCGAGAAGCCAGGTGGGTCTGCCTTGTATGCCTGGCGGCCCTCTGATCCTGCATCCTCTCTTCCCCCAGGAGGATTGTGATTTAGAGAACGTGTGGCTGATGGGGGGCCTGAGTGTGCTCACCTCTGTGCCAGGGGGCCCCCCGATGGTGTGCTTGCTGTGTGCCAGCAAAGGACTCCACGAGGTTAGATCTCTGCCTTTCTTCACAGACCCCCAGCTCTCTGTCGGTCCTCACGGCCTGATTCCTTGGGCCCTCTCAGCTGGGTCTCATCCCTTGGCCCTCTGGCCTCATGCTATGCCCATCATTCACTCCTTTACCCTGTCCCCAGCTGGTGTTCTGTCAAGTCTGCTGTGACCCATTCCACCCATTCTGCCTGGAGGAGGCCGAGCGGCCCCTGCCCCAGCATCACGACACCTGGTGCTGCCGTCGCTGCAAATTCTGCCACGTCTGTGGACGCAAAGGTCGTGGATCCAAGGTTTGGGCCCAAGGGCTGGCCAGGGTGGGTGGAGGCCTGAAGGTGAGGGCATCCCTGTGCCAGCAGGTTTCGCCATCTCTGTCTCCACATCCAACAGCACCTCCTGGAGTGCGAGCGCTGCCGCCATGCATACCACCCGGCCTGTCTGGGGCCCAGCTATCCAACCCGGGCCACGCGCAAACGGCGCCACTGGGTGAGAGATGAGGTTCACCCACTTGCTTTGTCTCTAATGAATATCACCACCACCCCCAAACTTGCTCTAGGCTGGGGCTCTCAGGAGGAGCAGAGGTTGGGGATCCTCTTAAGAATTGATTAGTAATGTTTCCTCTTCAAAAATTTCACATAGGTCAGATTTATATTCAGAATTTGCATGGAGTGGTTTTAGGGGCTTATGAATCTCACATTCCGTGGGCTCAGAATCCCCTGCTATAGCCTGATGTCCTCTCCTGCCCTCATGTTCCTCCTCCGTGTCTGTCCTGCGTGTTTTCTCCTCTTACCTGTCCCTCCTTGCCTGCTTCCTGCATATCCCCAATTCCTCCTCGCCCGTCTCCCGCTCATGTTGCTCCAGTCCAGTGCCTGGTTTTCCCCTAACATCGCCCTGCTCCCCCAGATCTGTTCAGCCTGTGTGCGCTGTAAGAGCTGTGGGGCAACTCCAGGCAAGAACTGGGACGTCGAGTGGTCTGGAGATTACAGCCTCTGCCCCAGGTGCACCCAGCTATATGAGAAAGGTGGGGACCGGGCAGGGGAACTGGATGCTGGGGGCCACAGGGGAATGGCCAGGCTCTTTTACAGGCTTTAGCACAGACCCTCTTTTCTCATGGCTTTCCACCTTGTAGCTATGGGACTATCTCTTCAACTCAGGGAACTCTTCCACAGGAGTCCATCCAGTATGTAAAACAGGGACACATAGCTCCTCTGAGGGTGGTGGGAGTGGAAGGCCTGGGACCCCACTGTCTTGGTGTCTGAGGTACTTCCTGGAACCTCACGTCTCCATTGAGCGGTTTGGAAGCCTTATTCAGGCAGTACATTAGCAAGGCCCTGTGTTCTGCAGAN
benign
302,361
Determine if the mutation at chromosome 19, position 35725212 in gene KMT2B (lysine methyltransferase 2B) is benign or pathogenic. If pathogenic, what disease(s) is associated?
benign
TCGATGTGGACACTGTCGGGGCTGCCTACGTGTGCAGGACTGTGGGTCCTGTGTCAACTGCCTAGACAAGCCCAAGTTTGGGGGCCCTAACACCAAGAAGCAGTGCTGTGTGTGAGTAGCTGGGGCGTGACCTCATTCCCGTGGTTGTTGGTCCCCTAGGCTTCCTACCTCACTCCTCTTCTGCCTGGCCAGAGCAGTGGGGTTGGCATTCTTGTGGAGAGCTTCCTCTCTTCCCCCAGACCACCAGTCCCCTACCCTGGTGACGTGCTGCTCCCCTCCCCAGATACCGGAAGTGTGACAAAATAGAGGCTCGGAAGATGGAACGACTGGCTAAAAAAGGTGACGAGCTTTAAGGAGCATTTCTTCTCAAAACCGTGTTAGAGTTTGTGCTGTGGAGGGAGCTGTTTTTCTTTGCTCTCCTCCCTTGCAGCTCACCCTCTCCATCTTCTCCGTTGTGTGCTTTCATAGCTCCTGCGTTCATTCCCTGCCCCGCTTCTTTCTGGCTTCTCTCCCAGTGTCCCATGTCCCTGGCTGAGCTCAAATCCTACTAAGTCCCCTGTTCCCGCAGGCCGGACGATAGTGAAGACGCTGTTGCCCTGGGATTCCGATGAATCTCCTGAGGCCTCCCCTGGTCCTCCAGGCCCACGCCGGGGGGCGGGAGCTGGGGGGCCCCGGGAGGAGGTGGTGGCCCACCCAGGGCCCGAGGAGCAGGACTCCCTCCTGCAGCGCAAGTCAGCTCGGCGCTGCGTCAAACAGCGACCCTCCTATGATATCTTCGAGGATTCGGATGACTCGGAGCCCGGGGGCCCCCCTGCTCCTCGGCGTCGGACCCCCCGAGAAAATGGTGCGAACTGCTTAATGCTTTCTCTGTTGATCATTTATTTGGTCTTGTGTCTTTTGTGTAGGAGGGACAAGGCACCCAGACCCAGGGCTCTGTCAGTCTGATAGAGAAGGTGGCTGAGGGCGGAGGAGGAGACAGTTTTTAGGTGGATGTACAGAACTGGCCTATGAGGTTCTCAGTGAGCCTAATGAGTGAGACTTAAGGGTCATCCTAGGCCTGGTGCAGTGGCTCACACTTGTAATCCCAGCACTTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGGGACCCCATCCCTATAAAAGCAAAAGTTAGTTGTATGTGGTGGCACGCATCTGTGGTCTCAGCTGCTCAGGAGGCTGAGGCAGGAGGATCGTCTGAGCCTGGGAGTTCAAGGCTGCGGTGGGCTATGGGTCACGCCACTGCATTCCAGTCTGGGCAACAGAGCGAGACCCTGCCTCAAAAAACAAGAAAAAGAATCGTCCTGGCGGGTCTTGGTTAGTTAAAGAAGGCCCTGGGAATCCAGGTAACATTTGGGGTTGTAGAAGAAGAGGGGCGTGGAAGGGGAGTGACCTCACTGCTCATTGTGTCCTGCCTAGAGCTGCCACTGCCAGAACCTGAGGAGCAGAGCCGGCCCCGCAAACCTACCCTGCAGCCTGTGTTGCAGCTCAAGGCCCGAAGGCGCCTGGACAAGGTCAGCACGGCCCGCTCCGAGAGCCCCTTCCCTCCAGGAGCTACCTGGCAAGTCAGAGTGACAGACACACCTGAGTGTCGTGGTGTGTCCACATGAGAGGACAGGCCCTGAGGGATGAGGCGGGCCTTGCCTGTCTGGAAAGCAAAGGGGTCTGGATCAGGGTCTGGGTCCAGTAGGCTGGGGGAAAGGCGGTGAGGAGAGGAGTCTGCATCACGGCCAGGCTGGCAGCTCTGAATTCCCCCACCTTTCCTCCCCAGGATGCTTTGGCCCCTGGCCCCTTTGCTTCTTTTCCCAATGGCTGGACTGGAAAGCAGAAGTCTCCCGATGGTGTGCACCGCGTCCGTGTGGATTTTAAGGTATGGCATTGAGTGGGGCGAGTCACAGAGCCTCTGGTTGGAAGAACCTCGATGACTGTGTCATCGAGAAGCCAGGTGGGTCTGCCTTGTATGCCTGGCGGCCCTCTGATCCTGCATCCTCTCTTCCCCCAGGAGGATTGTGATTTAGAGAACGTGTGGCTGATGGGGGGCCTGAGTGTGCTCACCTCTGTGCCAGGGGGCCCCCCGATGGTGTGCTTGCTGTGTGCCAGCAAAGGACTCCACGAGGTTAGATCTCTGCCTTTCTTCACAGACCCCCAGCTCTCTGTCGGTCCTCACGGCCTGATTCCTTGGGCCCTCTCAGCTGGGTCTCATCCCTTGGCCCTCTGGCCTCATGCTATGCCCATCATTCACTCCTTTACCCTGTCCCCAGCTGGTGTTCTGTCAAGTCTGCTGTGACCCATTCCACCCATTCTGCCTGGAGGAGGCCGAGCGGCCCCTGCCCCAGCATCACGACACCTGGTGCTGCCGTCGCTGCAAATTCTGCCACGTCTGTGGACGCAAAGGTCGTGGATCCAAGGTTTGGGCCCAAGGGCTGGCCAGGGTGGGTGGAGGCCTGAAGGTGAGGGCATCCCTGTGCCAGCAGGTTTCGCCATCTCTGTCTCCACATCCAACAGCACCTCCTGGAGTGCGAGCGCTGCCGCCATGCATACCACCCGGCCTGTCTGGGGCCCAGCTATCCAACCCGGGCCACGCGCAAACGGCGCCACTGGGTGAGAGATGAGGTTCACCCACTTGCTTTGTCTCTAATGAATATCACCACCACCCCCAAACTTGCTCTAGGCTGGGGCTCTCAGGAGGAGCAGAGGTTGGGGATCCTCTTAAGAATTGATTAGTAATGTTTCCTCTTCAAAAATTTCACATAGGTCAGATTTATATTCAGAATTTGCATGGAGTGGTTTTAGGGGCTTATGAATCTCACATTCCGTGGGCTCAGAATCCCCTGCTATAGCCTGATGTCCTCTCCTGCCCTCATGTTCCTCCTCCGTGTCTGTCCTGCGTGTTTTCTCCTCTTACCTGTCCCTCCTTGCCTGCTTCCTGCATATCCCCAATTCCTCCTCGCCCGTCTCCCGCTCATGTTGCTCCAGTCCAGTGCCTGGTTTTCCCCTAACATCGCCCTGCTCCCCCAGATCTGTTCAGCCTGTGTGCGCTGTAAGAGCTGTGGGGCAACTCCAGGCAAGAACTGGGACGTCGAGTGGTCTGGAGATTACAGCCTCTGCCCCAGGTGCACCCAGCTATATGAGAAAGGTGGGGACCGGGCAGGGGAACTGGATGCTGGGGGCCACAGGGGAATGGCCAGGCTCTTTTACAGGCTTTAGCACAGACCCTCTTTTCTCATGGCTTTCCACCTTGTAGCTATGGGACTATCTCTTCAACTCAGGGAACTCTTCCACAGGAGTCCATCCAGTATGTAAAACAGGGACACATAGCTCCTCTGAGGGTGGTGGGAGTGGAAGGCCTGGGACCCCACTGTCTTGGTGTCTGAGGTACTTCCTGGAACCTCACGTCTCCATTGAGCGGTTTGGAAGCCTTATTCAGGCAGTACATTAGCAAGGCCCTGTGTTCTGCAGAGTCTGAAAAGAGGCCTCATCCTAAGGCCGAGCACAGTGGCTCACGCCTGTAATCCTAACACTTTGGAAGGCTGAGGCAGGTGGATCACCTGAGGTGAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCCCATCTGTACTACAAATACAAAAATTAGCCGGGCATGATGGCGGGCACCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATCTTGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACACTGTCTCAAAAAAAAAAAAAAAAAAAAAGCCTCATCCTCAAGGAGCTTTTAGGGACTAGTAGGGGCCCAAAACAGGGGCATAGTGGAGGCAGCTAAGGTACTGCTAATCCTTGAACAGAGACACTCAGGGCTGAGTGGGAACTCCAGCACCTCTGACTCCTTCTCTTCCCTTTCTCTAGGAAACTACTGCCCGATCTGTACACGCTGCTATGAAGACAACGACTATGAGAGCAAGATGATGCAGTGCGCACAGTGCGATCACTGGGTGCATGCCAAGTGCGAG
TCGATGTGGACACTGTCGGGGCTGCCTACGTGTGCAGGACTGTGGGTCCTGTGTCAACTGCCTAGACAAGCCCAAGTTTGGGGGCCCTAACACCAAGAAGCAGTGCTGTGTGTGAGTAGCTGGGGCGTGACCTCATTCCCGTGGTTGTTGGTCCCCTAGGCTTCCTACCTCACTCCTCTTCTGCCTGGCCAGAGCAGTGGGGTTGGCATTCTTGTGGAGAGCTTCCTCTCTTCCCCCAGACCACCAGTCCCCTACCCTGGTGACGTGCTGCTCCCCTCCCCAGATACCGGAAGTGTGACAAAATAGAGGCTCGGAAGATGGAACGACTGGCTAAAAAAGGTGACGAGCTTTAAGGAGCATTTCTTCTCAAAACCGTGTTAGAGTTTGTGCTGTGGAGGGAGCTGTTTTTCTTTGCTCTCCTCCCTTGCAGCTCACCCTCTCCATCTTCTCCGTTGTGTGCTTTCATAGCTCCTGCGTTCATTCCCTGCCCCGCTTCTTTCTGGCTTCTCTCCCAGTGTCCCATGTCCCTGGCTGAGCTCAAATCCTACTAAGTCCCCTGTTCCCGCAGGCCGGACGATAGTGAAGACGCTGTTGCCCTGGGATTCCGATGAATCTCCTGAGGCCTCCCCTGGTCCTCCAGGCCCACGCCGGGGGGCGGGAGCTGGGGGGCCCCGGGAGGAGGTGGTGGCCCACCCAGGGCCCGAGGAGCAGGACTCCCTCCTGCAGCGCAAGTCAGCTCGGCGCTGCGTCAAACAGCGACCCTCCTATGATATCTTCGAGGATTCGGATGACTCGGAGCCCGGGGGCCCCCCTGCTCCTCGGCGTCGGACCCCCCGAGAAAATGGTGCGAACTGCTTAATGCTTTCTCTGTTGATCATTTATTTGGTCTTGTGTCTTTTGTGTAGGAGGGACAAGGCACCCAGACCCAGGGCTCTGTCAGTCTGATAGAGAAGGTGGCTGAGGGCGGAGGAGGAGACAGTTTTTAGGTGGATGTACAGAACTGGCCTATGAGGTTCTCAGTGAGCCTAATGAGTGAGACTTAAGGGTCATCCTAGGCCTGGTGCAGTGGCTCACACTTGTAATCCCAGCACTTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGGGACCCCATCCCTATAAAAGCAAAAGTTAGTTGTATGTGGTGGCACGCATCTGTGGTCTCAGCTGCTCAGGAGGCTGAGGCAGGAGGATCGTCTGAGCCTGGGAGTTCAAGGCTGCGGTGGGCTATGGGTCACGCCACTGCATTCCAGTCTGGGCAACAGAGCGAGACCCTGCCTCAAAAAACAAGAAAAAGAATCGTCCTGGCGGGTCTTGGTTAGTTAAAGAAGGCCCTGGGAATCCAGGTAACATTTGGGGTTGTAGAAGAAGAGGGGCGTGGAAGGGGAGTGACCTCACTGCTCATTGTGTCCTGCCTAGAGCTGCCACTGCCAGAACCTGAGGAGCAGAGCCGGCCCCGCAAACCTACCCTGCAGCCTGTGTTGCAGCTCAAGGCCCGAAGGCGCCTGGACAAGGTCAGCACGGCCCGCTCCGAGAGCCCCTTCCCTCCAGGAGCTACCTGGCAAGTCAGAGTGACAGACACACCTGAGTGTCGTGGTGTGTCCACATGAGAGGACAGGCCCTGAGGGATGAGGCGGGCCTTGCCTGTCTGGAAAGCAAAGGGGTCTGGATCAGGGTCTGGGTCCAGTAGGCTGGGGGAAAGGCGGTGAGGAGAGGAGTCTGCATCACGGCCAGGCTGGCAGCTCTGAATTCCCCCACCTTTCCTCCCCAGGATGCTTTGGCCCCTGGCCCCTTTGCTTCTTTTCCCAATGGCTGGACTGGAAAGCAGAAGTCTCCCGATGGTGTGCACCGCGTCCGTGTGGATTTTAAGGTATGGCATTGAGTGGGGCGAGTCACAGAGCCTCTGGTTGGAAGAACCTCGATGACTGTGTCATCGAGAAGCCAGGTGGGTCTGCCTTGTATGCCTGGCGGCCCTCTGATCCTGCATCCTCTCTTCCCCCCAGGAGGATTGTGATTTAGAGAACGTGTGGCTGATGGGGGGCCTGAGTGTGCTCACCTCTGTGCCAGGGGGCCCCCCGATGGTGTGCTTGCTGTGTGCCAGCAAAGGACTCCACGAGGTTAGATCTCTGCCTTTCTTCACAGACCCCCAGCTCTCTGTCGGTCCTCACGGCCTGATTCCTTGGGCCCTCTCAGCTGGGTCTCATCCCTTGGCCCTCTGGCCTCATGCTATGCCCATCATTCACTCCTTTACCCTGTCCCCAGCTGGTGTTCTGTCAAGTCTGCTGTGACCCATTCCACCCATTCTGCCTGGAGGAGGCCGAGCGGCCCCTGCCCCAGCATCACGACACCTGGTGCTGCCGTCGCTGCAAATTCTGCCACGTCTGTGGACGCAAAGGTCGTGGATCCAAGGTTTGGGCCCAAGGGCTGGCCAGGGTGGGTGGAGGCCTGAAGGTGAGGGCATCCCTGTGCCAGCAGGTTTCGCCATCTCTGTCTCCACATCCAACAGCACCTCCTGGAGTGCGAGCGCTGCCGCCATGCATACCACCCGGCCTGTCTGGGGCCCAGCTATCCAACCCGGGCCACGCGCAAACGGCGCCACTGGGTGAGAGATGAGGTTCACCCACTTGCTTTGTCTCTAATGAATATCACCACCACCCCCAAACTTGCTCTAGGCTGGGGCTCTCAGGAGGAGCAGAGGTTGGGGATCCTCTTAAGAATTGATTAGTAATGTTTCCTCTTCAAAAATTTCACATAGGTCAGATTTATATTCAGAATTTGCATGGAGTGGTTTTAGGGGCTTATGAATCTCACATTCCGTGGGCTCAGAATCCCCTGCTATAGCCTGATGTCCTCTCCTGCCCTCATGTTCCTCCTCCGTGTCTGTCCTGCGTGTTTTCTCCTCTTACCTGTCCCTCCTTGCCTGCTTCCTGCATATCCCCAATTCCTCCTCGCCCGTCTCCCGCTCATGTTGCTCCAGTCCAGTGCCTGGTTTTCCCCTAACATCGCCCTGCTCCCCCAGATCTGTTCAGCCTGTGTGCGCTGTAAGAGCTGTGGGGCAACTCCAGGCAAGAACTGGGACGTCGAGTGGTCTGGAGATTACAGCCTCTGCCCCAGGTGCACCCAGCTATATGAGAAAGGTGGGGACCGGGCAGGGGAACTGGATGCTGGGGGCCACAGGGGAATGGCCAGGCTCTTTTACAGGCTTTAGCACAGACCCTCTTTTCTCATGGCTTTCCACCTTGTAGCTATGGGACTATCTCTTCAACTCAGGGAACTCTTCCACAGGAGTCCATCCAGTATGTAAAACAGGGACACATAGCTCCTCTGAGGGTGGTGGGAGTGGAAGGCCTGGGACCCCACTGTCTTGGTGTCTGAGGTACTTCCTGGAACCTCACGTCTCCATTGAGCGGTTTGGAAGCCTTATTCAGGCAGTACATTAGCAAGGCCCTGTGTTCTGCAGAGTCTGAAAAGAGGCCTCATCCTAAGGCCGAGCACAGTGGCTCACGCCTGTAATCCTAACACTTTGGAAGGCTGAGGCAGGTGGATCACCTGAGGTGAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCCCATCTGTACTACAAATACAAAAATTAGCCGGGCATGATGGCGGGCACCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATCTTGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACACTGTCTCAAAAAAAAAAAAAAAAAAAAAGCCTCATCCTCAAGGAGCTTTTAGGGACTAGTAGGGGCCCAAAACAGGGGCATAGTGGAGGCAGCTAAGGTACTGCTAATCCTTGAACAGAGACACTCAGGGCTGAGTGGGAACTCCAGCACCTCTGACTCCTTCTCTTCCCTTTCTCTAGGAAACTACTGCCCGATCTGTACACGCTGCTATGAAGACAACGACTATGAGAGCAAGATGATGCAGTGCGCACAGTGCGATCACTGGGTGCATGCCAAGTGCGA
benign
302,371
Gene KMT2B (lysine methyltransferase 2B) variant at chromosome position 35727200 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Inborn_genetic_diseases']
CGAGAAGCCAGGTGGGTCTGCCTTGTATGCCTGGCGGCCCTCTGATCCTGCATCCTCTCTTCCCCCAGGAGGATTGTGATTTAGAGAACGTGTGGCTGATGGGGGGCCTGAGTGTGCTCACCTCTGTGCCAGGGGGCCCCCCGATGGTGTGCTTGCTGTGTGCCAGCAAAGGACTCCACGAGGTTAGATCTCTGCCTTTCTTCACAGACCCCCAGCTCTCTGTCGGTCCTCACGGCCTGATTCCTTGGGCCCTCTCAGCTGGGTCTCATCCCTTGGCCCTCTGGCCTCATGCTATGCCCATCATTCACTCCTTTACCCTGTCCCCAGCTGGTGTTCTGTCAAGTCTGCTGTGACCCATTCCACCCATTCTGCCTGGAGGAGGCCGAGCGGCCCCTGCCCCAGCATCACGACACCTGGTGCTGCCGTCGCTGCAAATTCTGCCACGTCTGTGGACGCAAAGGTCGTGGATCCAAGGTTTGGGCCCAAGGGCTGGCCAGGGTGGGTGGAGGCCTGAAGGTGAGGGCATCCCTGTGCCAGCAGGTTTCGCCATCTCTGTCTCCACATCCAACAGCACCTCCTGGAGTGCGAGCGCTGCCGCCATGCATACCACCCGGCCTGTCTGGGGCCCAGCTATCCAACCCGGGCCACGCGCAAACGGCGCCACTGGGTGAGAGATGAGGTTCACCCACTTGCTTTGTCTCTAATGAATATCACCACCACCCCCAAACTTGCTCTAGGCTGGGGCTCTCAGGAGGAGCAGAGGTTGGGGATCCTCTTAAGAATTGATTAGTAATGTTTCCTCTTCAAAAATTTCACATAGGTCAGATTTATATTCAGAATTTGCATGGAGTGGTTTTAGGGGCTTATGAATCTCACATTCCGTGGGCTCAGAATCCCCTGCTATAGCCTGATGTCCTCTCCTGCCCTCATGTTCCTCCTCCGTGTCTGTCCTGCGTGTTTTCTCCTCTTACCTGTCCCTCCTTGCCTGCTTCCTGCATATCCCCAATTCCTCCTCGCCCGTCTCCCGCTCATGTTGCTCCAGTCCAGTGCCTGGTTTTCCCCTAACATCGCCCTGCTCCCCCAGATCTGTTCAGCCTGTGTGCGCTGTAAGAGCTGTGGGGCAACTCCAGGCAAGAACTGGGACGTCGAGTGGTCTGGAGATTACAGCCTCTGCCCCAGGTGCACCCAGCTATATGAGAAAGGTGGGGACCGGGCAGGGGAACTGGATGCTGGGGGCCACAGGGGAATGGCCAGGCTCTTTTACAGGCTTTAGCACAGACCCTCTTTTCTCATGGCTTTCCACCTTGTAGCTATGGGACTATCTCTTCAACTCAGGGAACTCTTCCACAGGAGTCCATCCAGTATGTAAAACAGGGACACATAGCTCCTCTGAGGGTGGTGGGAGTGGAAGGCCTGGGACCCCACTGTCTTGGTGTCTGAGGTACTTCCTGGAACCTCACGTCTCCATTGAGCGGTTTGGAAGCCTTATTCAGGCAGTACATTAGCAAGGCCCTGTGTTCTGCAGAGTCTGAAAAGAGGCCTCATCCTAAGGCCGAGCACAGTGGCTCACGCCTGTAATCCTAACACTTTGGAAGGCTGAGGCAGGTGGATCACCTGAGGTGAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCCCATCTGTACTACAAATACAAAAATTAGCCGGGCATGATGGCGGGCACCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATCTTGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACACTGTCTCAAAAAAAAAAAAAAAAAAAAAGCCTCATCCTCAAGGAGCTTTTAGGGACTAGTAGGGGCCCAAAACAGGGGCATAGTGGAGGCAGCTAAGGTACTGCTAATCCTTGAACAGAGACACTCAGGGCTGAGTGGGAACTCCAGCACCTCTGACTCCTTCTCTTCCCTTTCTCTAGGAAACTACTGCCCGATCTGTACACGCTGCTATGAAGACAACGACTATGAGAGCAAGATGATGCAGTGCGCACAGTGCGATCACTGGGTGCATGCCAAGTGCGAGGGGCTCTCAGGTGAGTCAGTGGAGCACCTGGGCTGCAGCCTCAACCCTGTGGGGACCCCTGCCCCCACCACAGGCCCCAAGAGGACTGGTGGGCTAAGGGTCCTTGCTGGCCTAGGGGCTGCTGGGAGCCCTCACATCCTCTGAAACCACTTTTCCCTTTCCCACTTGGCTATCCTAGATGAAGACTACGAGATCCTTTCAGGACTGCCAGACTCGGTGCTGTACACCTGCGGACCGTGTGCTGGGGCAGCGCAGCCCCGCTGGCGAGAGGCCCTGAGCGGGGCCCTCCAGGGGGGCCTGCGCCAGGTGCTCCAGGGCCTGCTGAGCTCCAAGGTGGTGGGCCCACTGCTGCTCTGCACCCAGGTCTGGAGGGCCCTGGAGGCAGGATGGGCCGGGGCTAGGCCCACCCCCAGCCCTGCTAACTTCCCCGCTTTGCAGTGTGGGCCAGATGGGAAGCAACTGCACCCAGGACCCTGCGGCCTGCAAGCTGTGAGTCAGCGCTTCGAGGATGGCCACTACAAGTCTGTGGTGAGTGGTACACCAGGAGGAGCAGGTGGGTGGCAGGAGGAGAGGGCTGGAATTGTGCAGAGGGGACTCAGTCTCTGACAAACCCCCTTACAGCACAGCTTCATGGAGGACATGGTGGGCATCCTCATGCGGCACTCGGAGGAGGGAGAGACCCCGGACCGCCGGGCTGGAGGCCAGATGAAGGGGCTCCTGCTGAAGGTGAGCTCTTCCGGGGATGCTTGTGGGGTGGGGGAGTGGGACCTTCAGACCCTGCCCCTGCCAGCTCTCCTGGGGAAGCTGGCTCTTCTCATCCTGTTAACCCACTCCCCAGCTGCTAGAATCTGCGTTCGGCTGGTTCGACGCCCACGACCCCAAGTACTGGCGACGGAGTACCCGGCTGCCAAAGTGAGCAAGGCTGGGTAGCAGAAGGGAAGCCGGGGAGTGAGGGCAAGGCCAGGGCATGCAGGGGCCACGCTGGGCTGAGAAGAGATGAGCAGAGGTAGGGTCTGGAGCAGAGCTGGAGAGGAGGGTGGTGGAACCCAGGTGAGATTCCCTGGTGGTTCTAGACTAGCAAAGCTTTGTTTCTGCTTTGTGCAGGGGAATGCTGGGGACAAAGCAGTGAGCGAATCAGATTGGGCTCTGCTTAAAGAGCTCATTGTGGAGCCGGGCAGGCACTGAAGACCCAGATGGTCAGGGCAGTGATGGAGAATACCAGGGGGCGGTGGGGGCCCGGAGGGGTACCTGCTGGAGCCGAGGTGTCAGGGAAGGCTTCCTGAAAGAGATGGCATTGGAGCAGAGCTGGGGAGGAAGAGTATTGCAGGCATGAGGAGCAGCATTTCGTATGTCCAAGCTGGCACAAGAGGGCCTGGCTTATTTGGTGGACTGAGAGAAATTCCACATAGAGAGGGAGTAGCGGGTGTCATGGCGAGTTCAGGCTGGTTTGTGGATGGGCCCCCGTTCAGCTGCCCTTGTTGGGCACATCAGCTGCTAACCCTGCCTGTCCACAGCGGAGTCCTTCCCAATGCGGTGTTGCCCCCATCCCTGGATCATGTCTATGCGCAGTGGAGACAGCAGGAACCAGAGACCCCAGAATCAGGGCAGCCTCCAGGGGATCCCTCAGCAGGTACTGGGAAGTGGGGGTCCAGAAGCCAGGGCCCTGTGTTGGTGGCCTGGCTCCGGGTCCTGATTCTTAGACCTCCCTTCACATTTCCTCTTCAGCATTCCAGGGCAAGGATCCGGCTGCCTTCTCACACCTGGAGGACCCCCGTCAGTGTGCACTCTGCCTCAAATACGGGGATGCAGACTCCAAGGTGAGGGCTGCTCTGTGACGCACCAGGTTGTGGGGCCTGTTCCCTGGCCTCCCCACATCATGCCACTCCTCTTCTGCCCCAGGAGGCGGGGCGGCTCTTGTACATCGGGCAGAACGAGTGGACACACGTCAACTGTGCCATCTGGTCGGCGGAAGTCTTCGAGGAGAACGA
CGAGAAGCCAGGTGGGTCTGCCTTGTATGCCTGGCGGCCCTCTGATCCTGCATCCTCTCTTCCCCCAGGAGGATTGTGATTTAGAGAACGTGTGGCTGATGGGGGGCCTGAGTGTGCTCACCTCTGTGCCAGGGGGCCCCCCGATGGTGTGCTTGCTGTGTGCCAGCAAAGGACTCCACGAGGTTAGATCTCTGCCTTTCTTCACAGACCCCCAGCTCTCTGTCGGTCCTCACGGCCTGATTCCTTGGGCCCTCTCAGCTGGGTCTCATCCCTTGGCCCTCTGGCCTCATGCTATGCCCATCATTCACTCCTTTACCCTGTCCCCAGCTGGTGTTCTGTCAAGTCTGCTGTGACCCATTCCACCCATTCTGCCTGGAGGAGGCCGAGCGGCCCCTGCCCCAGCATCACGACACCTGGTGCTGCCGTCGCTGCAAATTCTGCCACGTCTGTGGACGCAAAGGTCGTGGATCCAAGGTTTGGGCCCAAGGGCTGGCCAGGGTGGGTGGAGGCCTGAAGGTGAGGGCATCCCTGTGCCAGCAGGTTTCGCCATCTCTGTCTCCACATCCAACAGCACCTCCTGGAGTGCGAGCGCTGCCGCCATGCATACCACCCGGCCTGTCTGGGGCCCAGCTATCCAACCCGGGCCACGCGCAAACGGCGCCACTGGGTGAGAGATGAGGTTCACCCACTTGCTTTGTCTCTAATGAATATCACCACCACCCCCAAACTTGCTCTAGGCTGGGGCTCTCAGGAGGAGCAGAGGTTGGGGATCCTCTTAAGAATTGATTAGTAATGTTTCCTCTTCAAAAATTTCACATAGGTCAGATTTATATTCAGAATTTGCATGGAGTGGTTTTAGGGGCTTATGAATCTCACATTCCGTGGGCTCAGAATCCCCTGCTATAGCCTGATGTCCTCTCCTGCCCTCATGTTCCTCCTCCGTGTCTGTCCTGCGTGTTTTCTCCTCTTACCTGTCCCTCCTTGCCTGCTTCCTGCATATCCCCAATTCCTCCTCGCCCGTCTCCCGCTCATGTTGCTCCAGTCCAGTGCCTGGTTTTCCCCTAACATCGCCCTGCTCCCCCAGATCTGTTCAGCCTGTGTGCGCTGTAAGAGCTGTGGGGCAACTCCAGGCAAGAACTGGGACGTCGAGTGGTCTGGAGATTACAGCCTCTGCCCCAGGTGCACCCAGCTATATGAGAAAGGTGGGGACCGGGCAGGGGAACTGGATGCTGGGGGCCACAGGGGAATGGCCAGGCTCTTTTACAGGCTTTAGCACAGACCCTCTTTTCTCATGGCTTTCCACCTTGTAGCTATGGGACTATCTCTTCAACTCAGGGAACTCTTCCACAGGAGTCCATCCAGTATGTAAAACAGGGACACATAGCTCCTCTGAGGGTGGTGGGAGTGGAAGGCCTGGGACCCCACTGTCTTGGTGTCTGAGGTACTTCCTGGAACCTCACGTCTCCATTGAGCGGTTTGGAAGCCTTATTCAGGCAGTACATTAGCAAGGCCCTGTGTTCTGCAGAGTCTGAAAAGAGGCCTCATCCTAAGGCCGAGCACAGTGGCTCACGCCTGTAATCCTAACACTTTGGAAGGCTGAGGCAGGTGGATCACCTGAGGTGAGGAGTTTGAGATCAGCCTGGCCAACATGGTGAAACCCCATCTGTACTACAAATACAAAAATTAGCCGGGCATGATGGCGGGCACCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATCTTGCCACTGCACTCTAGCCTGGGTGACAGAGCAAGACACTGTCTCAAAAAAAAAAAAAAAAAAAAAGCCTCATCCTCAAGGAGCTTTTAGGGACTAGTAGGGGCCCAAAACAGGGGCATAGTGGAGGCAGCTAAGGTACTGCTAATCCTTGAACAGAGACACTCAGGGCTGAGTGGGAACTCCAGCACCTCTGACTCCTTCTCTTCCCTTTCTCTAGGAAACTACTGCCCGATCTGTACACGCTGCTATGAAGACAACGACTATGATGCAGTGCGCACAGTGCGATCACTGGGTGCATGCCAAGTGCGAGGGGCTCTCAGGTGAGTCAGTGGAGCACCTGGGCTGCAGCCTCAACCCTGTGGGGACCCCTGCCCCCACCACAGGCCCCAAGAGGACTGGTGGGCTAAGGGTCCTTGCTGGCCTAGGGGCTGCTGGGAGCCCTCACATCCTCTGAAACCACTTTTCCCTTTCCCACTTGGCTATCCTAGATGAAGACTACGAGATCCTTTCAGGACTGCCAGACTCGGTGCTGTACACCTGCGGACCGTGTGCTGGGGCAGCGCAGCCCCGCTGGCGAGAGGCCCTGAGCGGGGCCCTCCAGGGGGGCCTGCGCCAGGTGCTCCAGGGCCTGCTGAGCTCCAAGGTGGTGGGCCCACTGCTGCTCTGCACCCAGGTCTGGAGGGCCCTGGAGGCAGGATGGGCCGGGGCTAGGCCCACCCCCAGCCCTGCTAACTTCCCCGCTTTGCAGTGTGGGCCAGATGGGAAGCAACTGCACCCAGGACCCTGCGGCCTGCAAGCTGTGAGTCAGCGCTTCGAGGATGGCCACTACAAGTCTGTGGTGAGTGGTACACCAGGAGGAGCAGGTGGGTGGCAGGAGGAGAGGGCTGGAATTGTGCAGAGGGGACTCAGTCTCTGACAAACCCCCTTACAGCACAGCTTCATGGAGGACATGGTGGGCATCCTCATGCGGCACTCGGAGGAGGGAGAGACCCCGGACCGCCGGGCTGGAGGCCAGATGAAGGGGCTCCTGCTGAAGGTGAGCTCTTCCGGGGATGCTTGTGGGGTGGGGGAGTGGGACCTTCAGACCCTGCCCCTGCCAGCTCTCCTGGGGAAGCTGGCTCTTCTCATCCTGTTAACCCACTCCCCAGCTGCTAGAATCTGCGTTCGGCTGGTTCGACGCCCACGACCCCAAGTACTGGCGACGGAGTACCCGGCTGCCAAAGTGAGCAAGGCTGGGTAGCAGAAGGGAAGCCGGGGAGTGAGGGCAAGGCCAGGGCATGCAGGGGCCACGCTGGGCTGAGAAGAGATGAGCAGAGGTAGGGTCTGGAGCAGAGCTGGAGAGGAGGGTGGTGGAACCCAGGTGAGATTCCCTGGTGGTTCTAGACTAGCAAAGCTTTGTTTCTGCTTTGTGCAGGGGAATGCTGGGGACAAAGCAGTGAGCGAATCAGATTGGGCTCTGCTTAAAGAGCTCATTGTGGAGCCGGGCAGGCACTGAAGACCCAGATGGTCAGGGCAGTGATGGAGAATACCAGGGGGCGGTGGGGGCCCGGAGGGGTACCTGCTGGAGCCGAGGTGTCAGGGAAGGCTTCCTGAAAGAGATGGCATTGGAGCAGAGCTGGGGAGGAAGAGTATTGCAGGCATGAGGAGCAGCATTTCGTATGTCCAAGCTGGCACAAGAGGGCCTGGCTTATTTGGTGGACTGAGAGAAATTCCACATAGAGAGGGAGTAGCGGGTGTCATGGCGAGTTCAGGCTGGTTTGTGGATGGGCCCCCGTTCAGCTGCCCTTGTTGGGCACATCAGCTGCTAACCCTGCCTGTCCACAGCGGAGTCCTTCCCAATGCGGTGTTGCCCCCATCCCTGGATCATGTCTATGCGCAGTGGAGACAGCAGGAACCAGAGACCCCAGAATCAGGGCAGCCTCCAGGGGATCCCTCAGCAGGTACTGGGAAGTGGGGGTCCAGAAGCCAGGGCCCTGTGTTGGTGGCCTGGCTCCGGGTCCTGATTCTTAGACCTCCCTTCACATTTCCTCTTCAGCATTCCAGGGCAAGGATCCGGCTGCCTTCTCACACCTGGAGGACCCCCGTCAGTGTGCACTCTGCCTCAAATACGGGGATGCAGACTCCAAGGTGAGGGCTGCTCTGTGACGCACCAGGTTGTGGGGCCTGTTCCCTGGCCTCCCCACATCATGCCACTCCTCTTCTGCCCCAGGAGGCGGGGCGGCTCTTGTACATCGGGCAGAACGAGTGGACACACGTCAACTGTGCCATCTGGTCGGCGGAAGTCTTCGAGGAGAACGANNNNNNNNNNN
pathogenic
302,385
Variant in KMT2B (lysine methyltransferase 2B), chromosome 19, position 35730565—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Dystonia_28,_childhood-onset']
CCGAGGTGTCAGGGAAGGCTTCCTGAAAGAGATGGCATTGGAGCAGAGCTGGGGAGGAAGAGTATTGCAGGCATGAGGAGCAGCATTTCGTATGTCCAAGCTGGCACAAGAGGGCCTGGCTTATTTGGTGGACTGAGAGAAATTCCACATAGAGAGGGAGTAGCGGGTGTCATGGCGAGTTCAGGCTGGTTTGTGGATGGGCCCCCGTTCAGCTGCCCTTGTTGGGCACATCAGCTGCTAACCCTGCCTGTCCACAGCGGAGTCCTTCCCAATGCGGTGTTGCCCCCATCCCTGGATCATGTCTATGCGCAGTGGAGACAGCAGGAACCAGAGACCCCAGAATCAGGGCAGCCTCCAGGGGATCCCTCAGCAGGTACTGGGAAGTGGGGGTCCAGAAGCCAGGGCCCTGTGTTGGTGGCCTGGCTCCGGGTCCTGATTCTTAGACCTCCCTTCACATTTCCTCTTCAGCATTCCAGGGCAAGGATCCGGCTGCCTTCTCACACCTGGAGGACCCCCGTCAGTGTGCACTCTGCCTCAAATACGGGGATGCAGACTCCAAGGTGAGGGCTGCTCTGTGACGCACCAGGTTGTGGGGCCTGTTCCCTGGCCTCCCCACATCATGCCACTCCTCTTCTGCCCCAGGAGGCGGGGCGGCTCTTGTACATCGGGCAGAACGAGTGGACACACGTCAACTGTGCCATCTGGTCGGCGGAAGTCTTCGAGGAGAACGACGGCTCCCTCAAGAATGTGCATGCTGCTGTGGCCCGAGGGAGGCAGATGGTGAGGGCGCGGGCGCAGAGAGGTGGACAGCTCTCTGGCTCTTGGGGAGGCCTCCTCCGGTGCAAACAGCTCTTACTTCACATTCCCTACCTGGCATCCTTTCACTGCCAGGCTGAGGTCTCTTGGTTGCCCTGGGACGTTGGTGCTGATGGCAGCTTTTTCCTATGTGGGCCCTCTGGCTGTAATCTGGGCCTGAAGTGTGGGAGTCTAAAAGTGAGAAGAGTGCCCATTGATTGAACCTGGGCTGCACGCTTTCCATGCTGGGTGGCGTTGAGCTCTCACTACATCCCCGTGAGGTTAGAATTCCCCCACTCCTCACAGTGGTGCCTGGGCCAGGTACAGAGAGACCTCAGGCACTCTCGGGCATTGGGGTGGTAGAGATTCCCACTGCGGGGGTATCTGTGAGGATGAAAATAACACAACCTCCGCCTGAAAACTGTGACAAAGATAATCACACTAATGCTATCAGCAAGTATTGTCATTCTTGCTTCAAAGAACCAGAGAGAGTTTGGTGTGCACCTGGGCCTGGATGCGGCTGGGGAGAGGCTGCGCCTAGGGAGAGCCTTTGCCGTGCCAGGCTAGACAGGGACCCATGCAGACTCAGTGACAGTGGTGCCTGGCGCCCAGCCCCAGCCCTGGCTTCTCCCCTGAGCTGCCCTCCCCTACGCAGCGCTGCGAGCTCTGCCTGAAGCCTGGCGCCACGGTGGGCTGCTGCCTGTCCTCCTGCCTCAGCAACTTCCACTTCATGTGTGCCCGGGCCAGCTACTGCATCTTCCAGGATGACAAGAAAGTCTTCTGCCAGAAACACACTGATCTCCTGGATGGCAAGGTGGGCCAGAACTGTGGGGTACACGGTTCCTTCCCCACCTCTCTTCCTGTTCACTTAGGGACCCCCGTGGCCCCCAGGCCTGGCCCTACTGCCTCTCAGTGTCTCCTCATCTGTTTTCCCAGAGGCCTTTAGGCCAAGCCCCTGACTGTTCAGACTTCCCTGGCATCCACCTCCCCCACCAATGCAGCCACCTCACTTTGCCACCCCCTCTTCCAGGAAATTGTGAACCCCGATGGTTTTGATGTTCTCCGCCGAGTCTATGTGGACTTCGAGGGCATCAACTTCAAGCGGAAGTTCTTGACGGGGCTTGAACCCGATGCCATCAACGTGCTCATTGGTAAGCTGCCTGCTCTCCGCCCTGTCCTCCTACCCTGTCCTGCCTGCCTCTCCTGACCTCCGCTTTGCACCACAGGTTCCATCCGCATTGACTCCCTGGGTACTCTGTCTGATCTCTCGGACTGCGAGGGACGGCTCTTCCCCATTGGCTACCAGTGAGCGGTCGGGGTGATCCATGGGGCCAGGGGACTCCATAGCTGGATCCCATTTCCCAAGCATCCTAACCGTCTTATCCCACATGCCAGGTGCTCCCGTCTGTACTGGAGCACAGTGGATGCTCGGAGGCGCTGCTGGTATCGGTGCCGAATTCTGGAGTATCGGCCATGGGGGCCGAGGGAAGAGCCAGCTCACCTGGAGGCTGCAGAGGAGAACCAGACCATTGTGCACAGCCCCGCCCCTTCCTCAGGTGTGGCTTTGGCTCTGTCTTCTTCCTGAATACCGCTCTCCCTAAACAAACCTACAGATCTCTGTTCCCCGCTCCCTTTTGGAAAGTCCAGGAGGCTTGCTTTTGCTTCAGTTGCTGTAATGTAACGGCAGCTCGCTTACTGCCATGCCTTGTGTGCCAGGGGCTGTGCCCGGCTTTTCATGGGAAGTGAGGTGGGGAGAGCGGCACGCTGCCTACTTGAGGTGGGGTACTGGCTTTTGGACGACTGCAGGGAGTAGAGTGCTTACAGCTCCCTAACTTGGGGCACTGTGCTCATGGAGCGCTCTCCAGTGTCGCCATACTACACCTTGAAGGGGACAGTGGCTGAACACAGTAACATGCTAGGGAAGCTGGAATTGGAACTGCATCTGCTCAGCTCCCAAACCGGCCCCCTTACAGCCACACTGGCTGTGGGATGTGGCTGAGAGCTGGATGGCACAGGGCAAAGAATGGGCTTGGAGATGGGGGAGAGGTTATTGTGGGCAGAGCAGGAGGCAGAAGAGATTTGGATGGTAGGAAGGGCTTTATTCCAGGTTGGAGCATGACAAGAAGTGGACAGAGGAGGAGGGTACACCCATCCCGTCTGGAAACCAGGGAGTTTTGGGTGGAGGAGGGAGATCAGTTTGCAGAGGTTGGGTGGAGCCAGGTAATGGAGAGCCTCCGGGCCGGGGCGGGCGGGAGCGTCTGATGTGGCTTGGATGCACCAGGCAAGTAAGAAAGTGGTAGGACTGGCCGTGCTGGAGGGAGGGCAGTTCCCCATGGCGTGCAAAGCCTGCAGCAGAGGCAGAGAGGAGATGGCAAGGAGCGAGTGGGGAGAGGCCCTGAAGGCCCCCTGGCCCAGGTGTGTGCAGGTTTTGCCAACTCCACGGTGGGTTTAGCCTGGGTGGTCACTGGAAACTGGGGCCTGTTGTGACTGGGTCAGGGTCGGGGACCTGGGAGGCATAGTGGCTCAGGATGAGAGCATGTGGGCAGGCTTTGACACAGAGCCCCTACCACCCCAATGCCATTTCTCGCCTCTTCAGAGCCCCCAGGTGGTGAGGACCCCCCACTGGACACAGATGTTCTTGTCCCTGGAGCTCCTGAGCGCCACTCGCCCATTCAGAACCTGGACCCTCCACTGCGGCCAGATTCAGGCAGCGCCCCTCCTCCAGCCCCCCGTTCTTTTTCGGGGGCTCGAATCAAAGTGCCCAACTACTCGCCATCCCGGAGGCCCTTGGGGGGTGTCTCCTTTGGCCCCCTGCCCTCCCCTGGTGAGCACCGGGCATGTGGGGGTTGGGGGTGGAGCCGCGGAGGTGGGAGCTGCTGGTAACACCAACCCTCCCCCCACAGGAAGTCCATCTTCACTGACCCACCACATCCCCACAGTGGGAGACCCGGACTTCCCAGCTCCCCCCAGACGTTCCCGTCGTCCCAGCCCTTTGGCTCCCAGGCCGCCTCCATCACGGTGGGCCTCCCCTCCTCTAAAAACCTCCCCTCAGCTCAGGGTGCCCCCTCCTACCTCAGTCGTCACAGCCCTCACACCTACCTCAGGGGAGCTGGCTCCCCCTGGCCCGGCCCCATCTCCACCACCCCCTGAAGACCTGGGCCCAGACTTCGAGGACATGGAGGTGGTGTCAGGACTGAGTGCTGCTGACCTGGACTTCGCGGCCAGCCTGCTGGGGACTGAGCCCTTCCAGGAAGAGATTGTAGCCGCTGGGGCCATGGGGAGCAGCCACGGGGGCCCGGGG
CCGAGGTGTCAGGGAAGGCTTCCTGAAAGAGATGGCATTGGAGCAGAGCTGGGGAGGAAGAGTATTGCAGGCATGAGGAGCAGCATTTCGTATGTCCAAGCTGGCACAAGAGGGCCTGGCTTATTTGGTGGACTGAGAGAAATTCCACATAGAGAGGGAGTAGCGGGTGTCATGGCGAGTTCAGGCTGGTTTGTGGATGGGCCCCCGTTCAGCTGCCCTTGTTGGGCACATCAGCTGCTAACCCTGCCTGTCCACAGCGGAGTCCTTCCCAATGCGGTGTTGCCCCCATCCCTGGATCATGTCTATGCGCAGTGGAGACAGCAGGAACCAGAGACCCCAGAATCAGGGCAGCCTCCAGGGGATCCCTCAGCAGGTACTGGGAAGTGGGGGTCCAGAAGCCAGGGCCCTGTGTTGGTGGCCTGGCTCCGGGTCCTGATTCTTAGACCTCCCTTCACATTTCCTCTTCAGCATTCCAGGGCAAGGATCCGGCTGCCTTCTCACACCTGGAGGACCCCCGTCAGTGTGCACTCTGCCTCAAATACGGGGATGCAGACTCCAAGGTGAGGGCTGCTCTGTGACGCACCAGGTTGTGGGGCCTGTTCCCTGGCCTCCCCACATCATGCCACTCCTCTTCTGCCCCAGGAGGCGGGGCGGCTCTTGTACATCGGGCAGAACGAGTGGACACACGTCAACTGTGCCATCTGGTCGGCGGAAGTCTTCGAGGAGAACGACGGCTCCCTCAAGAATGTGCATGCTGCTGTGGCCCGAGGGAGGCAGATGGTGAGGGCGCGGGCGCAGAGAGGTGGACAGCTCTCTGGCTCTTGGGGAGGCCTCCTCCGGTGCAAACAGCTCTTACTTCACATTCCCTACCTGGCATCCTTTCACTGCCAGGCTGAGGTCTCTTGGTTGCCCTGGGACGTTGGTGCTGATGGCAGCTTTTTCCTATGTGGGCCCTCTGGCTGTAATCTGGGCCTGAAGTGTGGGAGTCTAAAAGTGAGAAGAGTGCCCATTGATTGAACCTGGGCTGCACGCTTTCCATGCTGGGTGGCGTTGAGCTCTCACTACATCCCCGTGAGGTTAGAATTCCCCCACTCCTCACAGTGGTGCCTGGGCCAGGTACAGAGAGACCTCAGGCACTCTCGGGCATTGGGGTGGTAGAGATTCCCACTGCGGGGGTATCTGTGAGGATGAAAATAACACAACCTCCGCCTGAAAACTGTGACAAAGATAATCACACTAATGCTATCAGCAAGTATTGTCATTCTTGCTTCAAAGAACCAGAGAGAGTTTGGTGTGCACCTGGGCCTGGATGCGGCTGGGGAGAGGCTGCGCCTAGGGAGAGCCTTTGCCGTGCCAGGCTAGACAGGGACCCATGCAGACTCAGTGACAGTGGTGCCTGGCGCCCAGCCCCAGCCCTGGCTTCTCCCCTGAGCTGCCCTCCCCTACGCAGCGCTGCGAGCTCTGCCTGAAGCCTGGCGCCACGGTGGGCTGCTGCCTGTCCTCCTGCCTCAGCAACTTCCACTTCATGTGTGCCCGGGCCAGCTACTGCATCTTCCAGGATGACAAGAAAGTCTTCTGCCAGAAACACACTGATCTCCTGGATGGCAAGGTGGGCCAGAACTGTGGGGTACACGGTTCCTTCCCCACCTCTCTTCCTGTTCACTTAGGGACCCCCGTGGCCCCCAGGCCTGGCCCTACTGCCTCTCAGTGTCTCCTCATCTGTTTTCCCAGAGGCCTTTAGGCCAAGCCCCTGACTGTTCAGACTTCCCTGGCATCCACCTCCCCCACCAATGCAGCCACCTCACTTTGCCACCCCCTCTTCCAGGAAATTGTGAACCCCGATGGTTTTGATGTTCTCCGCCGAGTCTATGTGGACTTCGAGGGCATCAACTTCAAGCGGAAGTTCTTGACGGGGCTTGAACCCGATGCCATCAACGTGCTCATTGGTAAGCTGCCTGCTCTCCGCCCTGTCCTCCTACCCTGTCCTGCCTGCCTCTCCTGACCTCCGCTTTGCACCACAGGTTCCATCCGCATTGACTCCCTGGGTACTCTGATCTCTCGGACTGCGAGGGACGGCTCTTCCCCATTGGCTACCAGTGAGCGGTCGGGGTGATCCATGGGGCCAGGGGACTCCATAGCTGGATCCCATTTCCCAAGCATCCTAACCGTCTTATCCCACATGCCAGGTGCTCCCGTCTGTACTGGAGCACAGTGGATGCTCGGAGGCGCTGCTGGTATCGGTGCCGAATTCTGGAGTATCGGCCATGGGGGCCGAGGGAAGAGCCAGCTCACCTGGAGGCTGCAGAGGAGAACCAGACCATTGTGCACAGCCCCGCCCCTTCCTCAGGTGTGGCTTTGGCTCTGTCTTCTTCCTGAATACCGCTCTCCCTAAACAAACCTACAGATCTCTGTTCCCCGCTCCCTTTTGGAAAGTCCAGGAGGCTTGCTTTTGCTTCAGTTGCTGTAATGTAACGGCAGCTCGCTTACTGCCATGCCTTGTGTGCCAGGGGCTGTGCCCGGCTTTTCATGGGAAGTGAGGTGGGGAGAGCGGCACGCTGCCTACTTGAGGTGGGGTACTGGCTTTTGGACGACTGCAGGGAGTAGAGTGCTTACAGCTCCCTAACTTGGGGCACTGTGCTCATGGAGCGCTCTCCAGTGTCGCCATACTACACCTTGAAGGGGACAGTGGCTGAACACAGTAACATGCTAGGGAAGCTGGAATTGGAACTGCATCTGCTCAGCTCCCAAACCGGCCCCCTTACAGCCACACTGGCTGTGGGATGTGGCTGAGAGCTGGATGGCACAGGGCAAAGAATGGGCTTGGAGATGGGGGAGAGGTTATTGTGGGCAGAGCAGGAGGCAGAAGAGATTTGGATGGTAGGAAGGGCTTTATTCCAGGTTGGAGCATGACAAGAAGTGGACAGAGGAGGAGGGTACACCCATCCCGTCTGGAAACCAGGGAGTTTTGGGTGGAGGAGGGAGATCAGTTTGCAGAGGTTGGGTGGAGCCAGGTAATGGAGAGCCTCCGGGCCGGGGCGGGCGGGAGCGTCTGATGTGGCTTGGATGCACCAGGCAAGTAAGAAAGTGGTAGGACTGGCCGTGCTGGAGGGAGGGCAGTTCCCCATGGCGTGCAAAGCCTGCAGCAGAGGCAGAGAGGAGATGGCAAGGAGCGAGTGGGGAGAGGCCCTGAAGGCCCCCTGGCCCAGGTGTGTGCAGGTTTTGCCAACTCCACGGTGGGTTTAGCCTGGGTGGTCACTGGAAACTGGGGCCTGTTGTGACTGGGTCAGGGTCGGGGACCTGGGAGGCATAGTGGCTCAGGATGAGAGCATGTGGGCAGGCTTTGACACAGAGCCCCTACCACCCCAATGCCATTTCTCGCCTCTTCAGAGCCCCCAGGTGGTGAGGACCCCCCACTGGACACAGATGTTCTTGTCCCTGGAGCTCCTGAGCGCCACTCGCCCATTCAGAACCTGGACCCTCCACTGCGGCCAGATTCAGGCAGCGCCCCTCCTCCAGCCCCCCGTTCTTTTTCGGGGGCTCGAATCAAAGTGCCCAACTACTCGCCATCCCGGAGGCCCTTGGGGGGTGTCTCCTTTGGCCCCCTGCCCTCCCCTGGTGAGCACCGGGCATGTGGGGGTTGGGGGTGGAGCCGCGGAGGTGGGAGCTGCTGGTAACACCAACCCTCCCCCCACAGGAAGTCCATCTTCACTGACCCACCACATCCCCACAGTGGGAGACCCGGACTTCCCAGCTCCCCCCAGACGTTCCCGTCGTCCCAGCCCTTTGGCTCCCAGGCCGCCTCCATCACGGTGGGCCTCCCCTCCTCTAAAAACCTCCCCTCAGCTCAGGGTGCCCCCTCCTACCTCAGTCGTCACAGCCCTCACACCTACCTCAGGGGAGCTGGCTCCCCCTGGCCCGGCCCCATCTCCACCACCCCCTGAAGACCTGGGCCCAGACTTCGAGGACATGGAGGTGGTGTCAGGACTGAGTGCTGCTGACCTGGACTTCGCGGCCAGCCTGCTGGGGACTGAGCCCTTCCAGGAAGAGATTGTAGCCGCTGGGGCCATGGGGAGCAGCCACGGGGGCCCGGGGNNNN
pathogenic
302,423
Benign or pathogenic: chromosome 19, position 35732756, gene KMT2B (lysine methyltransferase 2B) variant? Disease(s) if pathogenic?
pathogenic
TGCTCCCGTCTGTACTGGAGCACAGTGGATGCTCGGAGGCGCTGCTGGTATCGGTGCCGAATTCTGGAGTATCGGCCATGGGGGCCGAGGGAAGAGCCAGCTCACCTGGAGGCTGCAGAGGAGAACCAGACCATTGTGCACAGCCCCGCCCCTTCCTCAGGTGTGGCTTTGGCTCTGTCTTCTTCCTGAATACCGCTCTCCCTAAACAAACCTACAGATCTCTGTTCCCCGCTCCCTTTTGGAAAGTCCAGGAGGCTTGCTTTTGCTTCAGTTGCTGTAATGTAACGGCAGCTCGCTTACTGCCATGCCTTGTGTGCCAGGGGCTGTGCCCGGCTTTTCATGGGAAGTGAGGTGGGGAGAGCGGCACGCTGCCTACTTGAGGTGGGGTACTGGCTTTTGGACGACTGCAGGGAGTAGAGTGCTTACAGCTCCCTAACTTGGGGCACTGTGCTCATGGAGCGCTCTCCAGTGTCGCCATACTACACCTTGAAGGGGACAGTGGCTGAACACAGTAACATGCTAGGGAAGCTGGAATTGGAACTGCATCTGCTCAGCTCCCAAACCGGCCCCCTTACAGCCACACTGGCTGTGGGATGTGGCTGAGAGCTGGATGGCACAGGGCAAAGAATGGGCTTGGAGATGGGGGAGAGGTTATTGTGGGCAGAGCAGGAGGCAGAAGAGATTTGGATGGTAGGAAGGGCTTTATTCCAGGTTGGAGCATGACAAGAAGTGGACAGAGGAGGAGGGTACACCCATCCCGTCTGGAAACCAGGGAGTTTTGGGTGGAGGAGGGAGATCAGTTTGCAGAGGTTGGGTGGAGCCAGGTAATGGAGAGCCTCCGGGCCGGGGCGGGCGGGAGCGTCTGATGTGGCTTGGATGCACCAGGCAAGTAAGAAAGTGGTAGGACTGGCCGTGCTGGAGGGAGGGCAGTTCCCCATGGCGTGCAAAGCCTGCAGCAGAGGCAGAGAGGAGATGGCAAGGAGCGAGTGGGGAGAGGCCCTGAAGGCCCCCTGGCCCAGGTGTGTGCAGGTTTTGCCAACTCCACGGTGGGTTTAGCCTGGGTGGTCACTGGAAACTGGGGCCTGTTGTGACTGGGTCAGGGTCGGGGACCTGGGAGGCATAGTGGCTCAGGATGAGAGCATGTGGGCAGGCTTTGACACAGAGCCCCTACCACCCCAATGCCATTTCTCGCCTCTTCAGAGCCCCCAGGTGGTGAGGACCCCCCACTGGACACAGATGTTCTTGTCCCTGGAGCTCCTGAGCGCCACTCGCCCATTCAGAACCTGGACCCTCCACTGCGGCCAGATTCAGGCAGCGCCCCTCCTCCAGCCCCCCGTTCTTTTTCGGGGGCTCGAATCAAAGTGCCCAACTACTCGCCATCCCGGAGGCCCTTGGGGGGTGTCTCCTTTGGCCCCCTGCCCTCCCCTGGTGAGCACCGGGCATGTGGGGGTTGGGGGTGGAGCCGCGGAGGTGGGAGCTGCTGGTAACACCAACCCTCCCCCCACAGGAAGTCCATCTTCACTGACCCACCACATCCCCACAGTGGGAGACCCGGACTTCCCAGCTCCCCCCAGACGTTCCCGTCGTCCCAGCCCTTTGGCTCCCAGGCCGCCTCCATCACGGTGGGCCTCCCCTCCTCTAAAAACCTCCCCTCAGCTCAGGGTGCCCCCTCCTACCTCAGTCGTCACAGCCCTCACACCTACCTCAGGGGAGCTGGCTCCCCCTGGCCCGGCCCCATCTCCACCACCCCCTGAAGACCTGGGCCCAGACTTCGAGGACATGGAGGTGGTGTCAGGACTGAGTGCTGCTGACCTGGACTTCGCGGCCAGCCTGCTGGGGACTGAGCCCTTCCAGGAAGAGATTGTAGCCGCTGGGGCCATGGGGAGCAGCCACGGGGGCCCGGGGGACAGCTCCGAGGAGGAGTCCAGCCCCACCTCCCGCTACATCCACTTCCCTGTGACTGTGGTGTCCGCCCCTGGTCTGGCCCCCAGCGCTACCCCTGGAGCCCCCCGCATTGAACAGCTGGACGGCGTGGACGACGGCACTGACAGTGAGGCTGAGGCGGTGCAGCAGCCTCGGGGCCAGGGCACGCCTCCTTCGGGGCCAGGAGTAGTCCGGGCAGGGGTCCTTGGGGCTGCAGGGGACAGGGCCCGGCCTCCTGAGGACCTGCCATCGGAAATTGTGGATTTTGTGTTGAAGAACCTAGGGGGTCCTGGGGATGGAGGTGCTGGCCCTAGAGAGGAGTCACTCCCCCCGGCGCCTCCCCTGGCTAATGGCAGCCAGCCCTCCCAAGGCCTGACCGCCAGCCCAGCTGACCCCACCCGCACATTTGCCTGGCTCCCAGGGGCCCCAGGGGTCCGGGTGTTAAGCCTTGGCCCTGCCCCTGAGCCCCCCAAACCCGCCACATCCAAAATCATACTTGTCAACAAGCTGGGGCAAGTATTTGTGAAGATGGCTGGGGAGGGTGAACCTGTCCCACCCCCAGTGAAGCAGCCACCTTTGCCCCCCACCATTTCCCCCACGGCTCCCACCTCCTGGACTCTGCCCCCAGGCCCCCTCCTCGGCGTGCTGCCCGTGGTCGGAGTGGTCCGCCCTGCCCCGCCCCCGCCACCCCCTCCCCTGACGCTGGTGCTGAGCAGTGGGCCAGCCAGCCCGCCCCGCCAGGCCATCCGCGTCAAGAGGGTGTCCACTTTCTCCGGCCGGTCCCCGCCAGCACCTCCCCCATACAAAGCCCCCCGGCTGGATGAAGATGGAGAGGCCTCAGAGGATACCCCTCAGGTTCCAGGGCTTGGCAGTGGCGGGTGAGTGCGGGTGCTGAGGCTGGCAGAGCAGGCAAGGGGGCAGATGGGCGGGAGATGCGGCTCATCCTTCTCGGGCTCGCCCTCCCAGGTTTAGCCGTGTGAGGATGAAAACCCCCACAGTGCGTGGGGTCCTTGACCTGGATCGGCCTGGGGAGCCCGCTGGGGAAGAAAGTCCTGGGTGAGTGGCCAGGCCCCTCTCCCTGGAGGGTCTGGGACCTCTGTCCTTCCCCTTCCTGACAGGTCTCTTCTCGCAGGCCCCTCCAGGAACGGTCCCCTTTGCTGCCACTTCCGGAAGATGGTCCTCCCCAGGTCCCCGATGGTCCCCCAGACCTGCTGCTTGAGTCCCAGTGGCACCACTATTCAGGTAGGGACCGGCCTTGCCCTCTCCCTCCTTGCCTGTGCCTGGCTCAGCTGGGTGACTCACAGATGCAAAATCAGCCCTCTTTCAAAACCAGTATCTACTCCCAGGGGCCAAGCCTGAGGCTCGGTGCTAGAGTTAGAGATGACCTTGGGGAGCCTCTGGCCTTGTGGGAGAAACAGACATGGAAATGACATTTCGCCTCTACGTGGGATCCTTTTAAGGGTCTTTGTCCAGCATGCCCAAGAGCCTAGGGGAGGGCCTCAGAGCCTAGCCTGCCAGGAGCTGAGAGAGAGCTTCCTAGAGTAGCCAAAGGTGAAGTTCTAGGATCATCTAGAGGGAATGCAGCCCAGCTAGCACCGAGATGAGGGTCAGGGACAGTGGGAAGATCAGAAGAGTGGTGTCCCAGAGGCCCAGGGAAGGGAGTCGTCACATCTCAGCTGCCACAGAGACTGCCAGGCCTGTGGAGTCTAGCGTTGGTGTCCAGTGAGAGCAGGTGGCACAGGGTGGGGCGTTGTGTCCAAGTCCAGAATTGAGACCATGGTTGAAGAAGGCAAAACAGCCCAAGCACTTGGCCAGAGTTCAGCTAAGGATCGGGAGCGGGAGGTGGGCGAGCAGCGTGGAGGTGCTTGGTGTGAGGGCCAAGACAGCGGAGCCATGGATGGCAGGGAAGGGCAGGCTGGGATGGAAAAGGCAGTGGGAAGAGGCCTGGTGGCTGGTTTTGAACTGGTGACCTCTGAGGTAAAGGAGAGGAGGGAAAGCAGGTGTTTATGCAGAAACTGTAATACATGGGGTGGAGGCCCCTGGAGGAGGCTTGGCTGATGGACTCCTTGAAGCTGGCGGTGGAGTGGTGGAGTTTTCTGTTGGTCCCTGAGGGCAGTGGCTGGGGGAGTGGCTGCGGCCAGGTAAGCTGGTGGTCGAGCAGCCTGAGGCTGGG
TGCTCCCGTCTGTACTGGAGCACAGTGGATGCTCGGAGGCGCTGCTGGTATCGGTGCCGAATTCTGGAGTATCGGCCATGGGGGCCGAGGGAAGAGCCAGCTCACCTGGAGGCTGCAGAGGAGAACCAGACCATTGTGCACAGCCCCGCCCCTTCCTCAGGTGTGGCTTTGGCTCTGTCTTCTTCCTGAATACCGCTCTCCCTAAACAAACCTACAGATCTCTGTTCCCCGCTCCCTTTTGGAAAGTCCAGGAGGCTTGCTTTTGCTTCAGTTGCTGTAATGTAACGGCAGCTCGCTTACTGCCATGCCTTGTGTGCCAGGGGCTGTGCCCGGCTTTTCATGGGAAGTGAGGTGGGGAGAGCGGCACGCTGCCTACTTGAGGTGGGGTACTGGCTTTTGGACGACTGCAGGGAGTAGAGTGCTTACAGCTCCCTAACTTGGGGCACTGTGCTCATGGAGCGCTCTCCAGTGTCGCCATACTACACCTTGAAGGGGACAGTGGCTGAACACAGTAACATGCTAGGGAAGCTGGAATTGGAACTGCATCTGCTCAGCTCCCAAACCGGCCCCCTTACAGCCACACTGGCTGTGGGATGTGGCTGAGAGCTGGATGGCACAGGGCAAAGAATGGGCTTGGAGATGGGGGAGAGGTTATTGTGGGCAGAGCAGGAGGCAGAAGAGATTTGGATGGTAGGAAGGGCTTTATTCCAGGTTGGAGCATGACAAGAAGTGGACAGAGGAGGAGGGTACACCCATCCCGTCTGGAAACCAGGGAGTTTTGGGTGGAGGAGGGAGATCAGTTTGCAGAGGTTGGGTGGAGCCAGGTAATGGAGAGCCTCCGGGCCGGGGCGGGCGGGAGCGTCTGATGTGGCTTGGATGCACCAGGCAAGTAAGAAAGTGGTAGGACTGGCCGTGCTGGAGGGAGGGCAGTTCCCCATGGCGTGCAAAGCCTGCAGCAGAGGCAGAGAGGAGATGGCAAGGAGCGAGTGGGGAGAGGCCCTGAAGGCCCCCTGGCCCAGGTGTGTGCAGGTTTTGCCAACTCCACGGTGGGTTTAGCCTGGGTGGTCACTGGAAACTGGGGCCTGTTGTGACTGGGTCAGGGTCGGGGACCTGGGAGGCATAGTGGCTCAGGATGAGAGCATGTGGGCAGGCTTTGACACAGAGCCCCTACCACCCCAATGCCATTTCTCGCCTCTTCAGAGCCCCCAGGTGGTGAGGACCCCCCACTGGACACAGATGTTCTTGTCCCTGGAGCTCCTGAGCGCCACTCGCCCATTCAGAACCTGGACCCTCCACTGCGGCCAGATTCAGGCAGCGCCCCTCCTCCAGCCCCCCGTTCTTTTTCGGGGGCTCGAATCAAAGTGCCCAACTACTCGCCATCCCGGAGGCCCTTGGGGGGTGTCTCCTTTGGCCCCCTGCCCTCCCCTGGTGAGCACCGGGCATGTGGGGGTTGGGGGTGGAGCCGCGGAGGTGGGAGCTGCTGGTAACACCAACCCTCCCCCCACAGGAAGTCCATCTTCACTGACCCACCACATCCCCACAGTGGGAGACCCGGACTTCCCAGCTCCCCCCAGACGTTCCCGTCGTCCCAGCCCTTTGGCTCCCAGGCCGCCTCCATCACGGTGGGCCTCCCCTCCTCTAAAAACCTCCCCTCAGCTCAGGGTGCCCCCTCCTACCTCAGTCGTCACAGCCCTCACACCTACCTCAGGGGAGCTGGCTCCCCCTGGCCCGGCCCCATCTCCACCACCCCCTGAAGACCTGGGCCCAGACTTCGAGGACATGGAGGTGGTGTCAGGACTGAGTGCTGCTGACCTGGACTTCGCGGCCAGCCTGCTGGGGACTGAGCCCTTCCAGGAAGAGATTGTAGCCGCTGGGGCCATGGGGAGCAGCCACGGGGGCCCGGGGGACAGCTCCGAGGAGGAGTCCAGCCCCACCTCCCGCTACATCCACTTCCCTGTGACTGTGGTGTCCGCCCCTGGTCTGGCCCCCAGCGCTACCCCTGGAGCCCCCCGCATTGAACAGCTGGACGGCGTGGACGACGGCACTGACAGGCTGAGGCGGTGCAGCAGCCTCGGGGCCAGGGCACGCCTCCTTCGGGGCCAGGAGTAGTCCGGGCAGGGGTCCTTGGGGCTGCAGGGGACAGGGCCCGGCCTCCTGAGGACCTGCCATCGGAAATTGTGGATTTTGTGTTGAAGAACCTAGGGGGTCCTGGGGATGGAGGTGCTGGCCCTAGAGAGGAGTCACTCCCCCCGGCGCCTCCCCTGGCTAATGGCAGCCAGCCCTCCCAAGGCCTGACCGCCAGCCCAGCTGACCCCACCCGCACATTTGCCTGGCTCCCAGGGGCCCCAGGGGTCCGGGTGTTAAGCCTTGGCCCTGCCCCTGAGCCCCCCAAACCCGCCACATCCAAAATCATACTTGTCAACAAGCTGGGGCAAGTATTTGTGAAGATGGCTGGGGAGGGTGAACCTGTCCCACCCCCAGTGAAGCAGCCACCTTTGCCCCCCACCATTTCCCCCACGGCTCCCACCTCCTGGACTCTGCCCCCAGGCCCCCTCCTCGGCGTGCTGCCCGTGGTCGGAGTGGTCCGCCCTGCCCCGCCCCCGCCACCCCCTCCCCTGACGCTGGTGCTGAGCAGTGGGCCAGCCAGCCCGCCCCGCCAGGCCATCCGCGTCAAGAGGGTGTCCACTTTCTCCGGCCGGTCCCCGCCAGCACCTCCCCCATACAAAGCCCCCCGGCTGGATGAAGATGGAGAGGCCTCAGAGGATACCCCTCAGGTTCCAGGGCTTGGCAGTGGCGGGTGAGTGCGGGTGCTGAGGCTGGCAGAGCAGGCAAGGGGGCAGATGGGCGGGAGATGCGGCTCATCCTTCTCGGGCTCGCCCTCCCAGGTTTAGCCGTGTGAGGATGAAAACCCCCACAGTGCGTGGGGTCCTTGACCTGGATCGGCCTGGGGAGCCCGCTGGGGAAGAAAGTCCTGGGTGAGTGGCCAGGCCCCTCTCCCTGGAGGGTCTGGGACCTCTGTCCTTCCCCTTCCTGACAGGTCTCTTCTCGCAGGCCCCTCCAGGAACGGTCCCCTTTGCTGCCACTTCCGGAAGATGGTCCTCCCCAGGTCCCCGATGGTCCCCCAGACCTGCTGCTTGAGTCCCAGTGGCACCACTATTCAGGTAGGGACCGGCCTTGCCCTCTCCCTCCTTGCCTGTGCCTGGCTCAGCTGGGTGACTCACAGATGCAAAATCAGCCCTCTTTCAAAACCAGTATCTACTCCCAGGGGCCAAGCCTGAGGCTCGGTGCTAGAGTTAGAGATGACCTTGGGGAGCCTCTGGCCTTGTGGGAGAAACAGACATGGAAATGACATTTCGCCTCTACGTGGGATCCTTTTAAGGGTCTTTGTCCAGCATGCCCAAGAGCCTAGGGGAGGGCCTCAGAGCCTAGCCTGCCAGGAGCTGAGAGAGAGCTTCCTAGAGTAGCCAAAGGTGAAGTTCTAGGATCATCTAGAGGGAATGCAGCCCAGCTAGCACCGAGATGAGGGTCAGGGACAGTGGGAAGATCAGAAGAGTGGTGTCCCAGAGGCCCAGGGAAGGGAGTCGTCACATCTCAGCTGCCACAGAGACTGCCAGGCCTGTGGAGTCTAGCGTTGGTGTCCAGTGAGAGCAGGTGGCACAGGGTGGGGCGTTGTGTCCAAGTCCAGAATTGAGACCATGGTTGAAGAAGGCAAAACAGCCCAAGCACTTGGCCAGAGTTCAGCTAAGGATCGGGAGCGGGAGGTGGGCGAGCAGCGTGGAGGTGCTTGGTGTGAGGGCCAAGACAGCGGAGCCATGGATGGCAGGGAAGGGCAGGCTGGGATGGAAAAGGCAGTGGGAAGAGGCCTGGTGGCTGGTTTTGAACTGGTGACCTCTGAGGTAAAGGAGAGGAGGGAAAGCAGGTGTTTATGCAGAAACTGTAATACATGGGGTGGAGGCCCCTGGAGGAGGCTTGGCTGATGGACTCCTTGAAGCTGGCGGTGGAGTGGTGGAGTTTTCTGTTGGTCCCTGAGGGCAGTGGCTGGGGGAGTGGCTGCGGCCAGGTAAGCTGGTGGTCGAGCAGCCTGAGGCTGGGNNNN
pathogenic
302,452
Is the genetic mutation found on chromosome 19 at position 35732782, within the gene KMT2B (lysine methyltransferase 2B), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Inborn_genetic_diseases']
GGATGCTCGGAGGCGCTGCTGGTATCGGTGCCGAATTCTGGAGTATCGGCCATGGGGGCCGAGGGAAGAGCCAGCTCACCTGGAGGCTGCAGAGGAGAACCAGACCATTGTGCACAGCCCCGCCCCTTCCTCAGGTGTGGCTTTGGCTCTGTCTTCTTCCTGAATACCGCTCTCCCTAAACAAACCTACAGATCTCTGTTCCCCGCTCCCTTTTGGAAAGTCCAGGAGGCTTGCTTTTGCTTCAGTTGCTGTAATGTAACGGCAGCTCGCTTACTGCCATGCCTTGTGTGCCAGGGGCTGTGCCCGGCTTTTCATGGGAAGTGAGGTGGGGAGAGCGGCACGCTGCCTACTTGAGGTGGGGTACTGGCTTTTGGACGACTGCAGGGAGTAGAGTGCTTACAGCTCCCTAACTTGGGGCACTGTGCTCATGGAGCGCTCTCCAGTGTCGCCATACTACACCTTGAAGGGGACAGTGGCTGAACACAGTAACATGCTAGGGAAGCTGGAATTGGAACTGCATCTGCTCAGCTCCCAAACCGGCCCCCTTACAGCCACACTGGCTGTGGGATGTGGCTGAGAGCTGGATGGCACAGGGCAAAGAATGGGCTTGGAGATGGGGGAGAGGTTATTGTGGGCAGAGCAGGAGGCAGAAGAGATTTGGATGGTAGGAAGGGCTTTATTCCAGGTTGGAGCATGACAAGAAGTGGACAGAGGAGGAGGGTACACCCATCCCGTCTGGAAACCAGGGAGTTTTGGGTGGAGGAGGGAGATCAGTTTGCAGAGGTTGGGTGGAGCCAGGTAATGGAGAGCCTCCGGGCCGGGGCGGGCGGGAGCGTCTGATGTGGCTTGGATGCACCAGGCAAGTAAGAAAGTGGTAGGACTGGCCGTGCTGGAGGGAGGGCAGTTCCCCATGGCGTGCAAAGCCTGCAGCAGAGGCAGAGAGGAGATGGCAAGGAGCGAGTGGGGAGAGGCCCTGAAGGCCCCCTGGCCCAGGTGTGTGCAGGTTTTGCCAACTCCACGGTGGGTTTAGCCTGGGTGGTCACTGGAAACTGGGGCCTGTTGTGACTGGGTCAGGGTCGGGGACCTGGGAGGCATAGTGGCTCAGGATGAGAGCATGTGGGCAGGCTTTGACACAGAGCCCCTACCACCCCAATGCCATTTCTCGCCTCTTCAGAGCCCCCAGGTGGTGAGGACCCCCCACTGGACACAGATGTTCTTGTCCCTGGAGCTCCTGAGCGCCACTCGCCCATTCAGAACCTGGACCCTCCACTGCGGCCAGATTCAGGCAGCGCCCCTCCTCCAGCCCCCCGTTCTTTTTCGGGGGCTCGAATCAAAGTGCCCAACTACTCGCCATCCCGGAGGCCCTTGGGGGGTGTCTCCTTTGGCCCCCTGCCCTCCCCTGGTGAGCACCGGGCATGTGGGGGTTGGGGGTGGAGCCGCGGAGGTGGGAGCTGCTGGTAACACCAACCCTCCCCCCACAGGAAGTCCATCTTCACTGACCCACCACATCCCCACAGTGGGAGACCCGGACTTCCCAGCTCCCCCCAGACGTTCCCGTCGTCCCAGCCCTTTGGCTCCCAGGCCGCCTCCATCACGGTGGGCCTCCCCTCCTCTAAAAACCTCCCCTCAGCTCAGGGTGCCCCCTCCTACCTCAGTCGTCACAGCCCTCACACCTACCTCAGGGGAGCTGGCTCCCCCTGGCCCGGCCCCATCTCCACCACCCCCTGAAGACCTGGGCCCAGACTTCGAGGACATGGAGGTGGTGTCAGGACTGAGTGCTGCTGACCTGGACTTCGCGGCCAGCCTGCTGGGGACTGAGCCCTTCCAGGAAGAGATTGTAGCCGCTGGGGCCATGGGGAGCAGCCACGGGGGCCCGGGGGACAGCTCCGAGGAGGAGTCCAGCCCCACCTCCCGCTACATCCACTTCCCTGTGACTGTGGTGTCCGCCCCTGGTCTGGCCCCCAGCGCTACCCCTGGAGCCCCCCGCATTGAACAGCTGGACGGCGTGGACGACGGCACTGACAGTGAGGCTGAGGCGGTGCAGCAGCCTCGGGGCCAGGGCACGCCTCCTTCGGGGCCAGGAGTAGTCCGGGCAGGGGTCCTTGGGGCTGCAGGGGACAGGGCCCGGCCTCCTGAGGACCTGCCATCGGAAATTGTGGATTTTGTGTTGAAGAACCTAGGGGGTCCTGGGGATGGAGGTGCTGGCCCTAGAGAGGAGTCACTCCCCCCGGCGCCTCCCCTGGCTAATGGCAGCCAGCCCTCCCAAGGCCTGACCGCCAGCCCAGCTGACCCCACCCGCACATTTGCCTGGCTCCCAGGGGCCCCAGGGGTCCGGGTGTTAAGCCTTGGCCCTGCCCCTGAGCCCCCCAAACCCGCCACATCCAAAATCATACTTGTCAACAAGCTGGGGCAAGTATTTGTGAAGATGGCTGGGGAGGGTGAACCTGTCCCACCCCCAGTGAAGCAGCCACCTTTGCCCCCCACCATTTCCCCCACGGCTCCCACCTCCTGGACTCTGCCCCCAGGCCCCCTCCTCGGCGTGCTGCCCGTGGTCGGAGTGGTCCGCCCTGCCCCGCCCCCGCCACCCCCTCCCCTGACGCTGGTGCTGAGCAGTGGGCCAGCCAGCCCGCCCCGCCAGGCCATCCGCGTCAAGAGGGTGTCCACTTTCTCCGGCCGGTCCCCGCCAGCACCTCCCCCATACAAAGCCCCCCGGCTGGATGAAGATGGAGAGGCCTCAGAGGATACCCCTCAGGTTCCAGGGCTTGGCAGTGGCGGGTGAGTGCGGGTGCTGAGGCTGGCAGAGCAGGCAAGGGGGCAGATGGGCGGGAGATGCGGCTCATCCTTCTCGGGCTCGCCCTCCCAGGTTTAGCCGTGTGAGGATGAAAACCCCCACAGTGCGTGGGGTCCTTGACCTGGATCGGCCTGGGGAGCCCGCTGGGGAAGAAAGTCCTGGGTGAGTGGCCAGGCCCCTCTCCCTGGAGGGTCTGGGACCTCTGTCCTTCCCCTTCCTGACAGGTCTCTTCTCGCAGGCCCCTCCAGGAACGGTCCCCTTTGCTGCCACTTCCGGAAGATGGTCCTCCCCAGGTCCCCGATGGTCCCCCAGACCTGCTGCTTGAGTCCCAGTGGCACCACTATTCAGGTAGGGACCGGCCTTGCCCTCTCCCTCCTTGCCTGTGCCTGGCTCAGCTGGGTGACTCACAGATGCAAAATCAGCCCTCTTTCAAAACCAGTATCTACTCCCAGGGGCCAAGCCTGAGGCTCGGTGCTAGAGTTAGAGATGACCTTGGGGAGCCTCTGGCCTTGTGGGAGAAACAGACATGGAAATGACATTTCGCCTCTACGTGGGATCCTTTTAAGGGTCTTTGTCCAGCATGCCCAAGAGCCTAGGGGAGGGCCTCAGAGCCTAGCCTGCCAGGAGCTGAGAGAGAGCTTCCTAGAGTAGCCAAAGGTGAAGTTCTAGGATCATCTAGAGGGAATGCAGCCCAGCTAGCACCGAGATGAGGGTCAGGGACAGTGGGAAGATCAGAAGAGTGGTGTCCCAGAGGCCCAGGGAAGGGAGTCGTCACATCTCAGCTGCCACAGAGACTGCCAGGCCTGTGGAGTCTAGCGTTGGTGTCCAGTGAGAGCAGGTGGCACAGGGTGGGGCGTTGTGTCCAAGTCCAGAATTGAGACCATGGTTGAAGAAGGCAAAACAGCCCAAGCACTTGGCCAGAGTTCAGCTAAGGATCGGGAGCGGGAGGTGGGCGAGCAGCGTGGAGGTGCTTGGTGTGAGGGCCAAGACAGCGGAGCCATGGATGGCAGGGAAGGGCAGGCTGGGATGGAAAAGGCAGTGGGAAGAGGCCTGGTGGCTGGTTTTGAACTGGTGACCTCTGAGGTAAAGGAGAGGAGGGAAAGCAGGTGTTTATGCAGAAACTGTAATACATGGGGTGGAGGCCCCTGGAGGAGGCTTGGCTGATGGACTCCTTGAAGCTGGCGGTGGAGTGGTGGAGTTTTCTGTTGGTCCCTGAGGGCAGTGGCTGGGGGAGTGGCTGCGGCCAGGTAAGCTGGTGGTCGAGCAGCCTGAGGCTGGGATTTTGTGGTGGCCCAATCCTGTCCA
GGATGCTCGGAGGCGCTGCTGGTATCGGTGCCGAATTCTGGAGTATCGGCCATGGGGGCCGAGGGAAGAGCCAGCTCACCTGGAGGCTGCAGAGGAGAACCAGACCATTGTGCACAGCCCCGCCCCTTCCTCAGGTGTGGCTTTGGCTCTGTCTTCTTCCTGAATACCGCTCTCCCTAAACAAACCTACAGATCTCTGTTCCCCGCTCCCTTTTGGAAAGTCCAGGAGGCTTGCTTTTGCTTCAGTTGCTGTAATGTAACGGCAGCTCGCTTACTGCCATGCCTTGTGTGCCAGGGGCTGTGCCCGGCTTTTCATGGGAAGTGAGGTGGGGAGAGCGGCACGCTGCCTACTTGAGGTGGGGTACTGGCTTTTGGACGACTGCAGGGAGTAGAGTGCTTACAGCTCCCTAACTTGGGGCACTGTGCTCATGGAGCGCTCTCCAGTGTCGCCATACTACACCTTGAAGGGGACAGTGGCTGAACACAGTAACATGCTAGGGAAGCTGGAATTGGAACTGCATCTGCTCAGCTCCCAAACCGGCCCCCTTACAGCCACACTGGCTGTGGGATGTGGCTGAGAGCTGGATGGCACAGGGCAAAGAATGGGCTTGGAGATGGGGGAGAGGTTATTGTGGGCAGAGCAGGAGGCAGAAGAGATTTGGATGGTAGGAAGGGCTTTATTCCAGGTTGGAGCATGACAAGAAGTGGACAGAGGAGGAGGGTACACCCATCCCGTCTGGAAACCAGGGAGTTTTGGGTGGAGGAGGGAGATCAGTTTGCAGAGGTTGGGTGGAGCCAGGTAATGGAGAGCCTCCGGGCCGGGGCGGGCGGGAGCGTCTGATGTGGCTTGGATGCACCAGGCAAGTAAGAAAGTGGTAGGACTGGCCGTGCTGGAGGGAGGGCAGTTCCCCATGGCGTGCAAAGCCTGCAGCAGAGGCAGAGAGGAGATGGCAAGGAGCGAGTGGGGAGAGGCCCTGAAGGCCCCCTGGCCCAGGTGTGTGCAGGTTTTGCCAACTCCACGGTGGGTTTAGCCTGGGTGGTCACTGGAAACTGGGGCCTGTTGTGACTGGGTCAGGGTCGGGGACCTGGGAGGCATAGTGGCTCAGGATGAGAGCATGTGGGCAGGCTTTGACACAGAGCCCCTACCACCCCAATGCCATTTCTCGCCTCTTCAGAGCCCCCAGGTGGTGAGGACCCCCCACTGGACACAGATGTTCTTGTCCCTGGAGCTCCTGAGCGCCACTCGCCCATTCAGAACCTGGACCCTCCACTGCGGCCAGATTCAGGCAGCGCCCCTCCTCCAGCCCCCCGTTCTTTTTCGGGGGCTCGAATCAAAGTGCCCAACTACTCGCCATCCCGGAGGCCCTTGGGGGGTGTCTCCTTTGGCCCCCTGCCCTCCCCTGGTGAGCACCGGGCATGTGGGGGTTGGGGGTGGAGCCGCGGAGGTGGGAGCTGCTGGTAACACCAACCCTCCCCCCACAGGAAGTCCATCTTCACTGACCCACCACATCCCCACAGTGGGAGACCCGGACTTCCCAGCTCCCCCCAGACGTTCCCGTCGTCCCAGCCCTTTGGCTCCCAGGCCGCCTCCATCACGGTGGGCCTCCCCTCCTCTAAAAACCTCCCCTCAGCTCAGGGTGCCCCCTCCTACCTCAGTCGTCACAGCCCTCACACCTACCTCAGGGGAGCTGGCTCCCCCTGGCCCGGCCCCATCTCCACCACCCCCTGAAGACCTGGGCCCAGACTTCGAGGACATGGAGGTGGTGTCAGGACTGAGTGCTGCTGACCTGGACTTCGCGGCCAGCCTGCTGGGGACTGAGCCCTTCCAGGAAGAGATTGTAGCCGCTGGGGCCATGGGGAGCAGCCACGGGGGCCCGGGGGACAGCTCCGAGGAGGAGTCCAGCCCCACCTCCCGCTACATCCACTTCCCTGTGACTGTGGTGTCCGCCCCTGGTCTGGCCCCCAGCGCTACCCCTGGAGCCCCCCGCATTGAACAGCTGGACGGCGTGGACGACGGCACTGACAGTGAGGCTGAGGCGGTGCAGCAGCCTCGGGGCCAGGGCACGCCTCCTTCGGGGCCAGGGCACGCCTCCTTCGGGGCCAGGAGTAGTCCGGGCAGGGGTCCTTGGGGCTGCAGGGGACAGGGCCCGGCCTCCTGAGGACCTGCCATCGGAAATTGTGGATTTTGTGTTGAAGAACCTAGGGGGTCCTGGGGATGGAGGTGCTGGCCCTAGAGAGGAGTCACTCCCCCCGGCGCCTCCCCTGGCTAATGGCAGCCAGCCCTCCCAAGGCCTGACCGCCAGCCCAGCTGACCCCACCCGCACATTTGCCTGGCTCCCAGGGGCCCCAGGGGTCCGGGTGTTAAGCCTTGGCCCTGCCCCTGAGCCCCCCAAACCCGCCACATCCAAAATCATACTTGTCAACAAGCTGGGGCAAGTATTTGTGAAGATGGCTGGGGAGGGTGAACCTGTCCCACCCCCAGTGAAGCAGCCACCTTTGCCCCCCACCATTTCCCCCACGGCTCCCACCTCCTGGACTCTGCCCCCAGGCCCCCTCCTCGGCGTGCTGCCCGTGGTCGGAGTGGTCCGCCCTGCCCCGCCCCCGCCACCCCCTCCCCTGACGCTGGTGCTGAGCAGTGGGCCAGCCAGCCCGCCCCGCCAGGCCATCCGCGTCAAGAGGGTGTCCACTTTCTCCGGCCGGTCCCCGCCAGCACCTCCCCCATACAAAGCCCCCCGGCTGGATGAAGATGGAGAGGCCTCAGAGGATACCCCTCAGGTTCCAGGGCTTGGCAGTGGCGGGTGAGTGCGGGTGCTGAGGCTGGCAGAGCAGGCAAGGGGGCAGATGGGCGGGAGATGCGGCTCATCCTTCTCGGGCTCGCCCTCCCAGGTTTAGCCGTGTGAGGATGAAAACCCCCACAGTGCGTGGGGTCCTTGACCTGGATCGGCCTGGGGAGCCCGCTGGGGAAGAAAGTCCTGGGTGAGTGGCCAGGCCCCTCTCCCTGGAGGGTCTGGGACCTCTGTCCTTCCCCTTCCTGACAGGTCTCTTCTCGCAGGCCCCTCCAGGAACGGTCCCCTTTGCTGCCACTTCCGGAAGATGGTCCTCCCCAGGTCCCCGATGGTCCCCCAGACCTGCTGCTTGAGTCCCAGTGGCACCACTATTCAGGTAGGGACCGGCCTTGCCCTCTCCCTCCTTGCCTGTGCCTGGCTCAGCTGGGTGACTCACAGATGCAAAATCAGCCCTCTTTCAAAACCAGTATCTACTCCCAGGGGCCAAGCCTGAGGCTCGGTGCTAGAGTTAGAGATGACCTTGGGGAGCCTCTGGCCTTGTGGGAGAAACAGACATGGAAATGACATTTCGCCTCTACGTGGGATCCTTTTAAGGGTCTTTGTCCAGCATGCCCAAGAGCCTAGGGGAGGGCCTCAGAGCCTAGCCTGCCAGGAGCTGAGAGAGAGCTTCCTAGAGTAGCCAAAGGTGAAGTTCTAGGATCATCTAGAGGGAATGCAGCCCAGCTAGCACCGAGATGAGGGTCAGGGACAGTGGGAAGATCAGAAGAGTGGTGTCCCAGAGGCCCAGGGAAGGGAGTCGTCACATCTCAGCTGCCACAGAGACTGCCAGGCCTGTGGAGTCTAGCGTTGGTGTCCAGTGAGAGCAGGTGGCACAGGGTGGGGCGTTGTGTCCAAGTCCAGAATTGAGACCATGGTTGAAGAAGGCAAAACAGCCCAAGCACTTGGCCAGAGTTCAGCTAAGGATCGGGAGCGGGAGGTGGGCGAGCAGCGTGGAGGTGCTTGGTGTGAGGGCCAAGACAGCGGAGCCATGGATGGCAGGGAAGGGCAGGCTGGGATGGAAAAGGCAGTGGGAAGAGGCCTGGTGGCTGGTTTTGAACTGGTGACCTCTGAGGTAAAGGAGAGGAGGGAAAGCAGGTGTTTATGCAGAAACTGTAATACATGGGGTGGAGGCCCCTGGAGGAGGCTTGGCTGATGGACTCCTTGAAGCTGGCGGTGGAGTGGTGGAGTTTTCTGTTGGTCCCTGAGGGCAGTGGCTGGGGGAGTGGCTGCGGCCAGGTAAGCTGGTGGTCGAGCAGCCTGAGGCTGGGATTT
pathogenic
302,454
Gene mutation in KMT2B (lysine methyltransferase 2B) at chromosome 19, position 35732956—is it benign or pathogenic? If pathogenic, specify the disease(s).
pathogenic; ['Dystonia_28,_childhood-onset']
CCTAAACAAACCTACAGATCTCTGTTCCCCGCTCCCTTTTGGAAAGTCCAGGAGGCTTGCTTTTGCTTCAGTTGCTGTAATGTAACGGCAGCTCGCTTACTGCCATGCCTTGTGTGCCAGGGGCTGTGCCCGGCTTTTCATGGGAAGTGAGGTGGGGAGAGCGGCACGCTGCCTACTTGAGGTGGGGTACTGGCTTTTGGACGACTGCAGGGAGTAGAGTGCTTACAGCTCCCTAACTTGGGGCACTGTGCTCATGGAGCGCTCTCCAGTGTCGCCATACTACACCTTGAAGGGGACAGTGGCTGAACACAGTAACATGCTAGGGAAGCTGGAATTGGAACTGCATCTGCTCAGCTCCCAAACCGGCCCCCTTACAGCCACACTGGCTGTGGGATGTGGCTGAGAGCTGGATGGCACAGGGCAAAGAATGGGCTTGGAGATGGGGGAGAGGTTATTGTGGGCAGAGCAGGAGGCAGAAGAGATTTGGATGGTAGGAAGGGCTTTATTCCAGGTTGGAGCATGACAAGAAGTGGACAGAGGAGGAGGGTACACCCATCCCGTCTGGAAACCAGGGAGTTTTGGGTGGAGGAGGGAGATCAGTTTGCAGAGGTTGGGTGGAGCCAGGTAATGGAGAGCCTCCGGGCCGGGGCGGGCGGGAGCGTCTGATGTGGCTTGGATGCACCAGGCAAGTAAGAAAGTGGTAGGACTGGCCGTGCTGGAGGGAGGGCAGTTCCCCATGGCGTGCAAAGCCTGCAGCAGAGGCAGAGAGGAGATGGCAAGGAGCGAGTGGGGAGAGGCCCTGAAGGCCCCCTGGCCCAGGTGTGTGCAGGTTTTGCCAACTCCACGGTGGGTTTAGCCTGGGTGGTCACTGGAAACTGGGGCCTGTTGTGACTGGGTCAGGGTCGGGGACCTGGGAGGCATAGTGGCTCAGGATGAGAGCATGTGGGCAGGCTTTGACACAGAGCCCCTACCACCCCAATGCCATTTCTCGCCTCTTCAGAGCCCCCAGGTGGTGAGGACCCCCCACTGGACACAGATGTTCTTGTCCCTGGAGCTCCTGAGCGCCACTCGCCCATTCAGAACCTGGACCCTCCACTGCGGCCAGATTCAGGCAGCGCCCCTCCTCCAGCCCCCCGTTCTTTTTCGGGGGCTCGAATCAAAGTGCCCAACTACTCGCCATCCCGGAGGCCCTTGGGGGGTGTCTCCTTTGGCCCCCTGCCCTCCCCTGGTGAGCACCGGGCATGTGGGGGTTGGGGGTGGAGCCGCGGAGGTGGGAGCTGCTGGTAACACCAACCCTCCCCCCACAGGAAGTCCATCTTCACTGACCCACCACATCCCCACAGTGGGAGACCCGGACTTCCCAGCTCCCCCCAGACGTTCCCGTCGTCCCAGCCCTTTGGCTCCCAGGCCGCCTCCATCACGGTGGGCCTCCCCTCCTCTAAAAACCTCCCCTCAGCTCAGGGTGCCCCCTCCTACCTCAGTCGTCACAGCCCTCACACCTACCTCAGGGGAGCTGGCTCCCCCTGGCCCGGCCCCATCTCCACCACCCCCTGAAGACCTGGGCCCAGACTTCGAGGACATGGAGGTGGTGTCAGGACTGAGTGCTGCTGACCTGGACTTCGCGGCCAGCCTGCTGGGGACTGAGCCCTTCCAGGAAGAGATTGTAGCCGCTGGGGCCATGGGGAGCAGCCACGGGGGCCCGGGGGACAGCTCCGAGGAGGAGTCCAGCCCCACCTCCCGCTACATCCACTTCCCTGTGACTGTGGTGTCCGCCCCTGGTCTGGCCCCCAGCGCTACCCCTGGAGCCCCCCGCATTGAACAGCTGGACGGCGTGGACGACGGCACTGACAGTGAGGCTGAGGCGGTGCAGCAGCCTCGGGGCCAGGGCACGCCTCCTTCGGGGCCAGGAGTAGTCCGGGCAGGGGTCCTTGGGGCTGCAGGGGACAGGGCCCGGCCTCCTGAGGACCTGCCATCGGAAATTGTGGATTTTGTGTTGAAGAACCTAGGGGGTCCTGGGGATGGAGGTGCTGGCCCTAGAGAGGAGTCACTCCCCCCGGCGCCTCCCCTGGCTAATGGCAGCCAGCCCTCCCAAGGCCTGACCGCCAGCCCAGCTGACCCCACCCGCACATTTGCCTGGCTCCCAGGGGCCCCAGGGGTCCGGGTGTTAAGCCTTGGCCCTGCCCCTGAGCCCCCCAAACCCGCCACATCCAAAATCATACTTGTCAACAAGCTGGGGCAAGTATTTGTGAAGATGGCTGGGGAGGGTGAACCTGTCCCACCCCCAGTGAAGCAGCCACCTTTGCCCCCCACCATTTCCCCCACGGCTCCCACCTCCTGGACTCTGCCCCCAGGCCCCCTCCTCGGCGTGCTGCCCGTGGTCGGAGTGGTCCGCCCTGCCCCGCCCCCGCCACCCCCTCCCCTGACGCTGGTGCTGAGCAGTGGGCCAGCCAGCCCGCCCCGCCAGGCCATCCGCGTCAAGAGGGTGTCCACTTTCTCCGGCCGGTCCCCGCCAGCACCTCCCCCATACAAAGCCCCCCGGCTGGATGAAGATGGAGAGGCCTCAGAGGATACCCCTCAGGTTCCAGGGCTTGGCAGTGGCGGGTGAGTGCGGGTGCTGAGGCTGGCAGAGCAGGCAAGGGGGCAGATGGGCGGGAGATGCGGCTCATCCTTCTCGGGCTCGCCCTCCCAGGTTTAGCCGTGTGAGGATGAAAACCCCCACAGTGCGTGGGGTCCTTGACCTGGATCGGCCTGGGGAGCCCGCTGGGGAAGAAAGTCCTGGGTGAGTGGCCAGGCCCCTCTCCCTGGAGGGTCTGGGACCTCTGTCCTTCCCCTTCCTGACAGGTCTCTTCTCGCAGGCCCCTCCAGGAACGGTCCCCTTTGCTGCCACTTCCGGAAGATGGTCCTCCCCAGGTCCCCGATGGTCCCCCAGACCTGCTGCTTGAGTCCCAGTGGCACCACTATTCAGGTAGGGACCGGCCTTGCCCTCTCCCTCCTTGCCTGTGCCTGGCTCAGCTGGGTGACTCACAGATGCAAAATCAGCCCTCTTTCAAAACCAGTATCTACTCCCAGGGGCCAAGCCTGAGGCTCGGTGCTAGAGTTAGAGATGACCTTGGGGAGCCTCTGGCCTTGTGGGAGAAACAGACATGGAAATGACATTTCGCCTCTACGTGGGATCCTTTTAAGGGTCTTTGTCCAGCATGCCCAAGAGCCTAGGGGAGGGCCTCAGAGCCTAGCCTGCCAGGAGCTGAGAGAGAGCTTCCTAGAGTAGCCAAAGGTGAAGTTCTAGGATCATCTAGAGGGAATGCAGCCCAGCTAGCACCGAGATGAGGGTCAGGGACAGTGGGAAGATCAGAAGAGTGGTGTCCCAGAGGCCCAGGGAAGGGAGTCGTCACATCTCAGCTGCCACAGAGACTGCCAGGCCTGTGGAGTCTAGCGTTGGTGTCCAGTGAGAGCAGGTGGCACAGGGTGGGGCGTTGTGTCCAAGTCCAGAATTGAGACCATGGTTGAAGAAGGCAAAACAGCCCAAGCACTTGGCCAGAGTTCAGCTAAGGATCGGGAGCGGGAGGTGGGCGAGCAGCGTGGAGGTGCTTGGTGTGAGGGCCAAGACAGCGGAGCCATGGATGGCAGGGAAGGGCAGGCTGGGATGGAAAAGGCAGTGGGAAGAGGCCTGGTGGCTGGTTTTGAACTGGTGACCTCTGAGGTAAAGGAGAGGAGGGAAAGCAGGTGTTTATGCAGAAACTGTAATACATGGGGTGGAGGCCCCTGGAGGAGGCTTGGCTGATGGACTCCTTGAAGCTGGCGGTGGAGTGGTGGAGTTTTCTGTTGGTCCCTGAGGGCAGTGGCTGGGGGAGTGGCTGCGGCCAGGTAAGCTGGTGGTCGAGCAGCCTGAGGCTGGGATTTTGTGGTGGCCCAATCCTGTCCAGATGTTTGGATTTTCTCATGACACACAGCTCAGTTGCTGAGCTGGGAAGCAGAGTGACGTGGATTGAGAGTGCTTAACTCAGAGGCTGCTTATGTCTCAGAGATGACATGAGAATATGGCAGTGGCCTTAGGAGGTCCCTGTCCTCAGGGATCAGACCACATTTTGGTGCGGGA
CCTAAACAAACCTACAGATCTCTGTTCCCCGCTCCCTTTTGGAAAGTCCAGGAGGCTTGCTTTTGCTTCAGTTGCTGTAATGTAACGGCAGCTCGCTTACTGCCATGCCTTGTGTGCCAGGGGCTGTGCCCGGCTTTTCATGGGAAGTGAGGTGGGGAGAGCGGCACGCTGCCTACTTGAGGTGGGGTACTGGCTTTTGGACGACTGCAGGGAGTAGAGTGCTTACAGCTCCCTAACTTGGGGCACTGTGCTCATGGAGCGCTCTCCAGTGTCGCCATACTACACCTTGAAGGGGACAGTGGCTGAACACAGTAACATGCTAGGGAAGCTGGAATTGGAACTGCATCTGCTCAGCTCCCAAACCGGCCCCCTTACAGCCACACTGGCTGTGGGATGTGGCTGAGAGCTGGATGGCACAGGGCAAAGAATGGGCTTGGAGATGGGGGAGAGGTTATTGTGGGCAGAGCAGGAGGCAGAAGAGATTTGGATGGTAGGAAGGGCTTTATTCCAGGTTGGAGCATGACAAGAAGTGGACAGAGGAGGAGGGTACACCCATCCCGTCTGGAAACCAGGGAGTTTTGGGTGGAGGAGGGAGATCAGTTTGCAGAGGTTGGGTGGAGCCAGGTAATGGAGAGCCTCCGGGCCGGGGCGGGCGGGAGCGTCTGATGTGGCTTGGATGCACCAGGCAAGTAAGAAAGTGGTAGGACTGGCCGTGCTGGAGGGAGGGCAGTTCCCCATGGCGTGCAAAGCCTGCAGCAGAGGCAGAGAGGAGATGGCAAGGAGCGAGTGGGGAGAGGCCCTGAAGGCCCCCTGGCCCAGGTGTGTGCAGGTTTTGCCAACTCCACGGTGGGTTTAGCCTGGGTGGTCACTGGAAACTGGGGCCTGTTGTGACTGGGTCAGGGTCGGGGACCTGGGAGGCATAGTGGCTCAGGATGAGAGCATGTGGGCAGGCTTTGACACAGAGCCCCTACCACCCCAATGCCATTTCTCGCCTCTTCAGAGCCCCCAGGTGGTGAGGACCCCCCACTGGACACAGATGTTCTTGTCCCTGGAGCTCCTGAGCGCCACTCGCCCATTCAGAACCTGGACCCTCCACTGCGGCCAGATTCAGGCAGCGCCCCTCCTCCAGCCCCCCGTTCTTTTTCGGGGGCTCGAATCAAAGTGCCCAACTACTCGCCATCCCGGAGGCCCTTGGGGGGTGTCTCCTTTGGCCCCCTGCCCTCCCCTGGTGAGCACCGGGCATGTGGGGGTTGGGGGTGGAGCCGCGGAGGTGGGAGCTGCTGGTAACACCAACCCTCCCCCCACAGGAAGTCCATCTTCACTGACCCACCACATCCCCACAGTGGGAGACCCGGACTTCCCAGCTCCCCCCAGACGTTCCCGTCGTCCCAGCCCTTTGGCTCCCAGGCCGCCTCCATCACGGTGGGCCTCCCCTCCTCTAAAAACCTCCCCTCAGCTCAGGGTGCCCCCTCCTACCTCAGTCGTCACAGCCCTCACACCTACCTCAGGGGAGCTGGCTCCCCCTGGCCCGGCCCCATCTCCACCACCCCCTGAAGACCTGGGCCCAGACTTCGAGGACATGGAGGTGGTGTCAGGACTGAGTGCTGCTGACCTGGACTTCGCGGCCAGCCTGCTGGGGACTGAGCCCTTCCAGGAAGAGATTGTAGCCGCTGGGGCCATGGGGAGCAGCCACGGGGGCCCGGGGGACAGCTCCGAGGAGGAGTCCAGCCCCACCTCCCGCTACATCCACTTCCCTGTGACTGTGGTGTCCGCCCCTGGTCTGGCCCCCAGCGCTACCCCTGGAGCCCCCCGCATTGAACAGCTGGACGGCGTGGACGACGGCACTGACAGTGAGGCTGAGGCGGTGCAGCAGCCTCGGGGCCAGGGCACGCCTCCTTCGGGGCCAGGAGTAGTCCGGGCAGGGGTCCTTGGGGCTGCAGGGGACAGGGCCCGGCCTCCTGAGGACCTGCCATCGGAAATTGTGGATTTTGTGTTGAAGAACCTAGGGGGTCCTGGGGATGGAGGTGCTGGCCCTAGAGAGGAGTCACTCCCCCCCGGCGCCTCCCCTGGCTAATGGCAGCCAGCCCTCCCAAGGCCTGACCGCCAGCCCAGCTGACCCCACCCGCACATTTGCCTGGCTCCCAGGGGCCCCAGGGGTCCGGGTGTTAAGCCTTGGCCCTGCCCCTGAGCCCCCCAAACCCGCCACATCCAAAATCATACTTGTCAACAAGCTGGGGCAAGTATTTGTGAAGATGGCTGGGGAGGGTGAACCTGTCCCACCCCCAGTGAAGCAGCCACCTTTGCCCCCCACCATTTCCCCCACGGCTCCCACCTCCTGGACTCTGCCCCCAGGCCCCCTCCTCGGCGTGCTGCCCGTGGTCGGAGTGGTCCGCCCTGCCCCGCCCCCGCCACCCCCTCCCCTGACGCTGGTGCTGAGCAGTGGGCCAGCCAGCCCGCCCCGCCAGGCCATCCGCGTCAAGAGGGTGTCCACTTTCTCCGGCCGGTCCCCGCCAGCACCTCCCCCATACAAAGCCCCCCGGCTGGATGAAGATGGAGAGGCCTCAGAGGATACCCCTCAGGTTCCAGGGCTTGGCAGTGGCGGGTGAGTGCGGGTGCTGAGGCTGGCAGAGCAGGCAAGGGGGCAGATGGGCGGGAGATGCGGCTCATCCTTCTCGGGCTCGCCCTCCCAGGTTTAGCCGTGTGAGGATGAAAACCCCCACAGTGCGTGGGGTCCTTGACCTGGATCGGCCTGGGGAGCCCGCTGGGGAAGAAAGTCCTGGGTGAGTGGCCAGGCCCCTCTCCCTGGAGGGTCTGGGACCTCTGTCCTTCCCCTTCCTGACAGGTCTCTTCTCGCAGGCCCCTCCAGGAACGGTCCCCTTTGCTGCCACTTCCGGAAGATGGTCCTCCCCAGGTCCCCGATGGTCCCCCAGACCTGCTGCTTGAGTCCCAGTGGCACCACTATTCAGGTAGGGACCGGCCTTGCCCTCTCCCTCCTTGCCTGTGCCTGGCTCAGCTGGGTGACTCACAGATGCAAAATCAGCCCTCTTTCAAAACCAGTATCTACTCCCAGGGGCCAAGCCTGAGGCTCGGTGCTAGAGTTAGAGATGACCTTGGGGAGCCTCTGGCCTTGTGGGAGAAACAGACATGGAAATGACATTTCGCCTCTACGTGGGATCCTTTTAAGGGTCTTTGTCCAGCATGCCCAAGAGCCTAGGGGAGGGCCTCAGAGCCTAGCCTGCCAGGAGCTGAGAGAGAGCTTCCTAGAGTAGCCAAAGGTGAAGTTCTAGGATCATCTAGAGGGAATGCAGCCCAGCTAGCACCGAGATGAGGGTCAGGGACAGTGGGAAGATCAGAAGAGTGGTGTCCCAGAGGCCCAGGGAAGGGAGTCGTCACATCTCAGCTGCCACAGAGACTGCCAGGCCTGTGGAGTCTAGCGTTGGTGTCCAGTGAGAGCAGGTGGCACAGGGTGGGGCGTTGTGTCCAAGTCCAGAATTGAGACCATGGTTGAAGAAGGCAAAACAGCCCAAGCACTTGGCCAGAGTTCAGCTAAGGATCGGGAGCGGGAGGTGGGCGAGCAGCGTGGAGGTGCTTGGTGTGAGGGCCAAGACAGCGGAGCCATGGATGGCAGGGAAGGGCAGGCTGGGATGGAAAAGGCAGTGGGAAGAGGCCTGGTGGCTGGTTTTGAACTGGTGACCTCTGAGGTAAAGGAGAGGAGGGAAAGCAGGTGTTTATGCAGAAACTGTAATACATGGGGTGGAGGCCCCTGGAGGAGGCTTGGCTGATGGACTCCTTGAAGCTGGCGGTGGAGTGGTGGAGTTTTCTGTTGGTCCCTGAGGGCAGTGGCTGGGGGAGTGGCTGCGGCCAGGTAAGCTGGTGGTCGAGCAGCCTGAGGCTGGGATTTTGTGGTGGCCCAATCCTGTCCAGATGTTTGGATTTTCTCATGACACACAGCTCAGTTGCTGAGCTGGGAAGCAGAGTGACGTGGATTGAGAGTGCTTAACTCAGAGGCTGCTTATGTCTCAGAGATGACATGAGAATATGGCAGTGGCCTTAGGAGGTCCCTGTCCTCAGGGATCAGACCACATTTTGGTGCGGG
pathogenic
302,461
Variant in gene NPHS1 (NPHS1 adhesion molecule, nephrin), located at chromosome 19 position 35826620: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
TTATTTTAGTCTGTGCTGATAAAAAATAACATTGTCATACAACAATTGGGGTGTATTTGTAAAAAAGAAAACAAAAGAAAAATAAATATATTGACAAACACGTGAACTAGAAAGTTTTGATAATATGGTTAATCAAGTAGAAGTGTGGTCTGAAGAAAGTCTGTTCTTCATGGAAACAGGTGGGCTTCTCAGCTATCCTGCTATTCAATAGAAAGATGGAGCCAGGCGTGGTGGCTCACGCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCTAACATGGTTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGAGCCTGGTGGCGGCCGCCTGCAATCCCAGCTACTAGGGAGGCTGAGGCAAGAGAATTACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCTGGGTGACAAAGCGAGACAAGAAAGGAAGGGAAGAGAAGGGAACGGGAGGGGAGGGGAGGGGAGGTAAGGGGAGGGGAGGGAAGGGGAGGGGAGGGGAGGGAAGGGGAGGGGAGGGGAGAGGAGGGAAGGGGAGGGGAGGGGAGAGAAGGGAAGGGCAGCGGAGGGGAGAGAAGGGAAGGGAAGGGCAGGGGAGGGGAGGGGAGGGAAGGGGAAAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGACAGGAAAGAAAAGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGATCCTCTTACTGGGCTGTTATTATGAAGCCTGTTTTTAAAATCACTTTTATTGAGATATCATTTATGTACAATAAAAATGCACCCATCTTAAGTGTAAAGTTCAATGAGTTTTGACAAATCTGTGCACCCGTGCAACCACCACCACAATCGTTATATAGAATATTTCCAACACCTCAGAAAGTTCTCCCATGCCTTTTTGCAGTCAACCCTCCTCTCATGGCCCCAGGAAACCTCTGCTGTGCTCTCTGCCACCGTAGATTAGTTTTGCCTATTTTAGAATTTCTATAAACGAAAGCACACACACAGTACATATTCTTTTCCTCTAGCTTCTTTTGATTGTCTGTTTATTTTAATGCTTATGGAGCATACTTATGTTTACATGTGTCATAGTTTATGCCTCCTGTGTTAGATAACTGTCGGAAATAATAAAATAATAGGTAGGATGCAACATGGATTCATAAATTCCACTTATTATTAGCTATTTCAGACGTCATGGAATGCAAAATGAACAGAGTTTTTCATATGTCTTTCCCCACTTCTGAAAACTTTACTTCATGAAGCACTTAGGGACCCTCAGAATAGCATTTTATTTTTTATTTTTATTTTATTTTTATTTTTTGAGACAGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCATGCATCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGCCACTACTCCTGGCTAATTTTTTATATTTTTAGTAGAAATGGAGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCACCCGGCAGCATTTCATTTTTGAGACGACGTTTACAATCTGCCCTGTCCTTTTGGAGAAGTTTAGTTTCTAAAGCCAACCCCAGGATGCACCTTGTTTCTACTCTGGTACCAGCTGAACCATCTCTGTCACTCAGCCCCCTCCATGTCCTCTCCTGACACCAAGTCCCTTTGGGTTTTATGGAGCTCACCTAACCAGCTCGGCCCAGGCTGTAATGAGAGAGACCAGTGGAGTGTAAATTCCTGCAGGTGCAGGACAATGGGGTTGAGAGGGCTCTTACACCAGATGTCCCCTCAGCTCGAAGGGCAGAGAATCGGGTTCCAGAGTGTCCAAGTCTCCGGCCACCTGGTCATAGATTCCTCTTGGATCCTGATATGTGTCTTCAGGCCAGTGGAGGTCCCAGGGTCCCTGACAGGCAAAAAGTGGAGTTAGAACCATGGAGAGATGCCCTGTAGGTCTTCATTGAAGATCTGGGGGATACATGCCCCTGCTTAACTTCCCAGAAAAAAGTGTTTTAGCTTTTACTAAAATCCCAACATATACAAAAAAGGAGTGTGATTATAATGAATGCTTATGATGAACCCCATGTGCTTATCACCTAACTTCAACAATATCAGGCTGGGCACGGTAGCTCATGCCTATAATTCCAGCACTTTGGGATGCCAAAGCAGGAGGATTGCTTGAGACCAGGAGTTCGAGACCAGCCTGGGCAACATAGTGAGATCCTGTATCTACAAAAAATAATTTTATTTTTCTTAGACAGGGTCTGGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTTAGCTCCCTGCAACCTCCACCTTCTGGGCTCAATCCATCCTCCCACTTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCATCACCACACCCAGCTAACTTTTGAATTTTTTTTTTTTTTAAAGACGAGGTTTCCATTGTGGCCCAGGCTGGTCTTGAACTCCTGAGTTCAATCGATCCACCCGTCTCAGCCTCCCAAAGTGCTGGGATTATAAGTCACTGGGATTATGAGCCACTGCACCGAGCCTATAAAAAATATTTTTAAAGAAATTAGCTAGGTGTGGTGGTGAGCGCCTATAGTCCTAGATACTCAGGAGGCTGAGGTAAGAGGATCGCTTGAGCCCCGGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCCGCCTGGGTGACAGACTGAGACTATCTCAAAAAAAGAAAAAAAGAAAAAAGAAAAAACCAGTAGCAACCCTTGGTCAATTGATTTCTCTGTATTTCTATCTTGTTCCCCTCCCCGACTAACTGGATTATTTTGAAGCAAGCCCAAGATACCCAATGATTTCATGTTAGAAAAATAATGTAAATGTCAGAAATATAAAACCTTTAGGCCAAGCATGGTGACTCATGCCTGTAATCCTAGCATTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGATCAGGATTCGAGACCAGCCTGGGCAATGGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGATGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGCCTGGGTTACAGAGCAAGCCTCCATCTCAAAAATAAATAAATAAATAAAATTTTTAAAAATGAAAACTTTAAAAGTCCATGTTATCAGGTATGGCAACTGTGGAATGTAAGTTATGATTATATTGTCCTATGAATTTCCAAAACAGTTCCCTAATCATAATAGAAAAACAAAACAAAGCAAAACCAAACAAACAACAACAACAAAAAGAACATGAATGGTAGCCCTAACTGGGGATGTATTTTGTTCTAGGGCTGGGAGAAAATGATTATTTTAGTTCAGCAAACTTTAGAGCAGATTGGCCCATGCTCCAAATATGGCCTGCCACCTGCTTTTTTATACTGCCCAAGAGCTAAGAATGGTTTTTATTTTTTTCTTTTTCTTTTTCTTTTTTTTTGAGACGGAGTCTTGGTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGATTCTCCTGCCTAGCCTCCCGAGTAGGTGGGACTACAGGCGCCAGCCACCACACCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACCGTGCCCGGCCTGGTTTTTCATTTTTTAATTGTTGGGAAAAAATGAAAAAAGATAACATTTGTGACATAGAAAAATTACATGAAGTTCAAATTACAGTGTCCAAAAATTAAGTTT
TTATTTTAGTCTGTGCTGATAAAAAATAACATTGTCATACAACAATTGGGGTGTATTTGTAAAAAAGAAAACAAAAGAAAAATAAATATATTGACAAACACGTGAACTAGAAAGTTTTGATAATATGGTTAATCAAGTAGAAGTGTGGTCTGAAGAAAGTCTGTTCTTCATGGAAACAGGTGGGCTTCTCAGCTATCCTGCTATTCAATAGAAAGATGGAGCCAGGCGTGGTGGCTCACGCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCTAACATGGTTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGAGCCTGGTGGCGGCCGCCTGCAATCCCAGCTACTAGGGAGGCTGAGGCAAGAGAATTACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCTGGGTGACAAAGCGAGACAAGAAAGGAAGGGAAGAGAAGGGAACGGGAGGGGAGGGGAGGGGAGGTAAGGGGAGGGGAGGGAAGGGGAGGGGAGGGGAGGGAAGGGGAGGGGAGGGGAGAGGAGGGAAGGGGAGGGGAGGGGAGAGAAGGGAAGGGCAGCGGAGGGGAGAGAAGGGAAGGGAAGGGCAGGGGAGGGGAGGGGAGGGAAGGGGAAAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGACAGGAAAGAAAAGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGATCCTCTTACTGGGCTGTTATTATGAAGCCTGTTTTTAAAATCACTTTTATTGAGATATCATTTATGTACAATAAAAATGCACCCATCTTAAGTGTAAAGTTCAATGAGTTTTGACAAATCTGTGCACCCGTGCAACCACCACCACAATCGTTATATAGAATATTTCCAACACCTCAGAAAGTTCTCCCATGCCTTTTTGCAGTCAACCCTCCTCTCATGGCCCCAGGAAACCTCTGCTGTGCTCTCTGCCACCGTAGATTAGTTTTGCCTATTTTAGAATTTCTATAAACGAAAGCACACACACAGTACATATTCTTTTCCTCTAGCTTCTTTTGATTGTCTGTTTATTTTAATGCTTATGGAGCATACTTATGTTTACATGTGTCATAGTTTATGCCTCCTGTGTTAGATAACTGTCGGAAATAATAAAATAATAGGTAGGATGCAACATGGATTCATAAATTCCACTTATTATTAGCTATTTCAGACGTCATGGAATGCAAAATGAACAGAGTTTTTCATATGTCTTTCCCCACTTCTGAAAACTTTACTTCATGAAGCACTTAGGGACCCTCAGAATAGCATTTTATTTTTTATTTTTATTTTATTTTTATTTTTTGAGACAGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCATGCATCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGCCACTACTCCTGGCTAATTTTTTATATTTTTAGTAGAAATGGAGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCACCCGGCAGCATTTCATTTTTGAGACGACGTTTACAATCTGCCCTGTCCTTTTGGAGAAGTTTAGTTTCTAAAGCCAACCCCAGGATGCACCTTGTTTCTACTCTGGTACCAGCTGAACCATCTCTGTCACTCAGCCCCCTCCATGTCCTCTCCTGACACCAAGTCCCTTTGGGTTTTATGGAGCTCACCTAACCAGCTCGGCCCAGGCTGTAATGAGAGAGACCAGTGGAGTGTAAATTCCTGCAGGTGCAGGACAATGGGGTTGAGAGGGCTCTTACACCAGATGTCCCCTCAGCTCGAAGGGCAGAGAATCGGGTTCCAGAGTGTCCAAGTCTCCGGCCACCTGGTCATAGATTCCTCTTGGATCCTGATATGTGTCTTAGGCCAGTGGAGGTCCCAGGGTCCCTGACAGGCAAAAAGTGGAGTTAGAACCATGGAGAGATGCCCTGTAGGTCTTCATTGAAGATCTGGGGGATACATGCCCCTGCTTAACTTCCCAGAAAAAAGTGTTTTAGCTTTTACTAAAATCCCAACATATACAAAAAAGGAGTGTGATTATAATGAATGCTTATGATGAACCCCATGTGCTTATCACCTAACTTCAACAATATCAGGCTGGGCACGGTAGCTCATGCCTATAATTCCAGCACTTTGGGATGCCAAAGCAGGAGGATTGCTTGAGACCAGGAGTTCGAGACCAGCCTGGGCAACATAGTGAGATCCTGTATCTACAAAAAATAATTTTATTTTTCTTAGACAGGGTCTGGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTTAGCTCCCTGCAACCTCCACCTTCTGGGCTCAATCCATCCTCCCACTTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCATCACCACACCCAGCTAACTTTTGAATTTTTTTTTTTTTTAAAGACGAGGTTTCCATTGTGGCCCAGGCTGGTCTTGAACTCCTGAGTTCAATCGATCCACCCGTCTCAGCCTCCCAAAGTGCTGGGATTATAAGTCACTGGGATTATGAGCCACTGCACCGAGCCTATAAAAAATATTTTTAAAGAAATTAGCTAGGTGTGGTGGTGAGCGCCTATAGTCCTAGATACTCAGGAGGCTGAGGTAAGAGGATCGCTTGAGCCCCGGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCCGCCTGGGTGACAGACTGAGACTATCTCAAAAAAAGAAAAAAAGAAAAAAGAAAAAACCAGTAGCAACCCTTGGTCAATTGATTTCTCTGTATTTCTATCTTGTTCCCCTCCCCGACTAACTGGATTATTTTGAAGCAAGCCCAAGATACCCAATGATTTCATGTTAGAAAAATAATGTAAATGTCAGAAATATAAAACCTTTAGGCCAAGCATGGTGACTCATGCCTGTAATCCTAGCATTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGATCAGGATTCGAGACCAGCCTGGGCAATGGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGATGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGCCTGGGTTACAGAGCAAGCCTCCATCTCAAAAATAAATAAATAAATAAAATTTTTAAAAATGAAAACTTTAAAAGTCCATGTTATCAGGTATGGCAACTGTGGAATGTAAGTTATGATTATATTGTCCTATGAATTTCCAAAACAGTTCCCTAATCATAATAGAAAAACAAAACAAAGCAAAACCAAACAAACAACAACAACAAAAAGAACATGAATGGTAGCCCTAACTGGGGATGTATTTTGTTCTAGGGCTGGGAGAAAATGATTATTTTAGTTCAGCAAACTTTAGAGCAGATTGGCCCATGCTCCAAATATGGCCTGCCACCTGCTTTTTTATACTGCCCAAGAGCTAAGAATGGTTTTTATTTTTTTCTTTTTCTTTTTCTTTTTTTTTGAGACGGAGTCTTGGTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGATTCTCCTGCCTAGCCTCCCGAGTAGGTGGGACTACAGGCGCCAGCCACCACACCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACCGTGCCCGGCCTGGTTTTTCATTTTTTAATTGTTGGGAAAAAATGAAAAAAGATAACATTTGTGACATAGAAAAATTACATGAAGTTCAAATTACAGTGTCCAAAAATTAAGTTTN
pathogenic
302,509
Does the variant impacting NPHS1 (NPHS1 adhesion molecule, nephrin) on chromosome 19, position 35826626, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
TAGTCTGTGCTGATAAAAAATAACATTGTCATACAACAATTGGGGTGTATTTGTAAAAAAGAAAACAAAAGAAAAATAAATATATTGACAAACACGTGAACTAGAAAGTTTTGATAATATGGTTAATCAAGTAGAAGTGTGGTCTGAAGAAAGTCTGTTCTTCATGGAAACAGGTGGGCTTCTCAGCTATCCTGCTATTCAATAGAAAGATGGAGCCAGGCGTGGTGGCTCACGCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCTAACATGGTTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGAGCCTGGTGGCGGCCGCCTGCAATCCCAGCTACTAGGGAGGCTGAGGCAAGAGAATTACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCTGGGTGACAAAGCGAGACAAGAAAGGAAGGGAAGAGAAGGGAACGGGAGGGGAGGGGAGGGGAGGTAAGGGGAGGGGAGGGAAGGGGAGGGGAGGGGAGGGAAGGGGAGGGGAGGGGAGAGGAGGGAAGGGGAGGGGAGGGGAGAGAAGGGAAGGGCAGCGGAGGGGAGAGAAGGGAAGGGAAGGGCAGGGGAGGGGAGGGGAGGGAAGGGGAAAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGACAGGAAAGAAAAGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGATCCTCTTACTGGGCTGTTATTATGAAGCCTGTTTTTAAAATCACTTTTATTGAGATATCATTTATGTACAATAAAAATGCACCCATCTTAAGTGTAAAGTTCAATGAGTTTTGACAAATCTGTGCACCCGTGCAACCACCACCACAATCGTTATATAGAATATTTCCAACACCTCAGAAAGTTCTCCCATGCCTTTTTGCAGTCAACCCTCCTCTCATGGCCCCAGGAAACCTCTGCTGTGCTCTCTGCCACCGTAGATTAGTTTTGCCTATTTTAGAATTTCTATAAACGAAAGCACACACACAGTACATATTCTTTTCCTCTAGCTTCTTTTGATTGTCTGTTTATTTTAATGCTTATGGAGCATACTTATGTTTACATGTGTCATAGTTTATGCCTCCTGTGTTAGATAACTGTCGGAAATAATAAAATAATAGGTAGGATGCAACATGGATTCATAAATTCCACTTATTATTAGCTATTTCAGACGTCATGGAATGCAAAATGAACAGAGTTTTTCATATGTCTTTCCCCACTTCTGAAAACTTTACTTCATGAAGCACTTAGGGACCCTCAGAATAGCATTTTATTTTTTATTTTTATTTTATTTTTATTTTTTGAGACAGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCATGCATCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGCCACTACTCCTGGCTAATTTTTTATATTTTTAGTAGAAATGGAGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCACCCGGCAGCATTTCATTTTTGAGACGACGTTTACAATCTGCCCTGTCCTTTTGGAGAAGTTTAGTTTCTAAAGCCAACCCCAGGATGCACCTTGTTTCTACTCTGGTACCAGCTGAACCATCTCTGTCACTCAGCCCCCTCCATGTCCTCTCCTGACACCAAGTCCCTTTGGGTTTTATGGAGCTCACCTAACCAGCTCGGCCCAGGCTGTAATGAGAGAGACCAGTGGAGTGTAAATTCCTGCAGGTGCAGGACAATGGGGTTGAGAGGGCTCTTACACCAGATGTCCCCTCAGCTCGAAGGGCAGAGAATCGGGTTCCAGAGTGTCCAAGTCTCCGGCCACCTGGTCATAGATTCCTCTTGGATCCTGATATGTGTCTTCAGGCCAGTGGAGGTCCCAGGGTCCCTGACAGGCAAAAAGTGGAGTTAGAACCATGGAGAGATGCCCTGTAGGTCTTCATTGAAGATCTGGGGGATACATGCCCCTGCTTAACTTCCCAGAAAAAAGTGTTTTAGCTTTTACTAAAATCCCAACATATACAAAAAAGGAGTGTGATTATAATGAATGCTTATGATGAACCCCATGTGCTTATCACCTAACTTCAACAATATCAGGCTGGGCACGGTAGCTCATGCCTATAATTCCAGCACTTTGGGATGCCAAAGCAGGAGGATTGCTTGAGACCAGGAGTTCGAGACCAGCCTGGGCAACATAGTGAGATCCTGTATCTACAAAAAATAATTTTATTTTTCTTAGACAGGGTCTGGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTTAGCTCCCTGCAACCTCCACCTTCTGGGCTCAATCCATCCTCCCACTTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCATCACCACACCCAGCTAACTTTTGAATTTTTTTTTTTTTTAAAGACGAGGTTTCCATTGTGGCCCAGGCTGGTCTTGAACTCCTGAGTTCAATCGATCCACCCGTCTCAGCCTCCCAAAGTGCTGGGATTATAAGTCACTGGGATTATGAGCCACTGCACCGAGCCTATAAAAAATATTTTTAAAGAAATTAGCTAGGTGTGGTGGTGAGCGCCTATAGTCCTAGATACTCAGGAGGCTGAGGTAAGAGGATCGCTTGAGCCCCGGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCCGCCTGGGTGACAGACTGAGACTATCTCAAAAAAAGAAAAAAAGAAAAAAGAAAAAACCAGTAGCAACCCTTGGTCAATTGATTTCTCTGTATTTCTATCTTGTTCCCCTCCCCGACTAACTGGATTATTTTGAAGCAAGCCCAAGATACCCAATGATTTCATGTTAGAAAAATAATGTAAATGTCAGAAATATAAAACCTTTAGGCCAAGCATGGTGACTCATGCCTGTAATCCTAGCATTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGATCAGGATTCGAGACCAGCCTGGGCAATGGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGATGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGCCTGGGTTACAGAGCAAGCCTCCATCTCAAAAATAAATAAATAAATAAAATTTTTAAAAATGAAAACTTTAAAAGTCCATGTTATCAGGTATGGCAACTGTGGAATGTAAGTTATGATTATATTGTCCTATGAATTTCCAAAACAGTTCCCTAATCATAATAGAAAAACAAAACAAAGCAAAACCAAACAAACAACAACAACAAAAAGAACATGAATGGTAGCCCTAACTGGGGATGTATTTTGTTCTAGGGCTGGGAGAAAATGATTATTTTAGTTCAGCAAACTTTAGAGCAGATTGGCCCATGCTCCAAATATGGCCTGCCACCTGCTTTTTTATACTGCCCAAGAGCTAAGAATGGTTTTTATTTTTTTCTTTTTCTTTTTCTTTTTTTTTGAGACGGAGTCTTGGTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGATTCTCCTGCCTAGCCTCCCGAGTAGGTGGGACTACAGGCGCCAGCCACCACACCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACCGTGCCCGGCCTGGTTTTTCATTTTTTAATTGTTGGGAAAAAATGAAAAAAGATAACATTTGTGACATAGAAAAATTACATGAAGTTCAAATTACAGTGTCCAAAAATTAAGTTTTGTAGG
TAGTCTGTGCTGATAAAAAATAACATTGTCATACAACAATTGGGGTGTATTTGTAAAAAAGAAAACAAAAGAAAAATAAATATATTGACAAACACGTGAACTAGAAAGTTTTGATAATATGGTTAATCAAGTAGAAGTGTGGTCTGAAGAAAGTCTGTTCTTCATGGAAACAGGTGGGCTTCTCAGCTATCCTGCTATTCAATAGAAAGATGGAGCCAGGCGTGGTGGCTCACGCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCTAACATGGTTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGAGCCTGGTGGCGGCCGCCTGCAATCCCAGCTACTAGGGAGGCTGAGGCAAGAGAATTACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCTGGGTGACAAAGCGAGACAAGAAAGGAAGGGAAGAGAAGGGAACGGGAGGGGAGGGGAGGGGAGGTAAGGGGAGGGGAGGGAAGGGGAGGGGAGGGGAGGGAAGGGGAGGGGAGGGGAGAGGAGGGAAGGGGAGGGGAGGGGAGAGAAGGGAAGGGCAGCGGAGGGGAGAGAAGGGAAGGGAAGGGCAGGGGAGGGGAGGGGAGGGAAGGGGAAAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGACAGGAAAGAAAAGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGATCCTCTTACTGGGCTGTTATTATGAAGCCTGTTTTTAAAATCACTTTTATTGAGATATCATTTATGTACAATAAAAATGCACCCATCTTAAGTGTAAAGTTCAATGAGTTTTGACAAATCTGTGCACCCGTGCAACCACCACCACAATCGTTATATAGAATATTTCCAACACCTCAGAAAGTTCTCCCATGCCTTTTTGCAGTCAACCCTCCTCTCATGGCCCCAGGAAACCTCTGCTGTGCTCTCTGCCACCGTAGATTAGTTTTGCCTATTTTAGAATTTCTATAAACGAAAGCACACACACAGTACATATTCTTTTCCTCTAGCTTCTTTTGATTGTCTGTTTATTTTAATGCTTATGGAGCATACTTATGTTTACATGTGTCATAGTTTATGCCTCCTGTGTTAGATAACTGTCGGAAATAATAAAATAATAGGTAGGATGCAACATGGATTCATAAATTCCACTTATTATTAGCTATTTCAGACGTCATGGAATGCAAAATGAACAGAGTTTTTCATATGTCTTTCCCCACTTCTGAAAACTTTACTTCATGAAGCACTTAGGGACCCTCAGAATAGCATTTTATTTTTTATTTTTATTTTATTTTTATTTTTTGAGACAGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCATGCATCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGCCACTACTCCTGGCTAATTTTTTATATTTTTAGTAGAAATGGAGTTTTACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCACCCGGCAGCATTTCATTTTTGAGACGACGTTTACAATCTGCCCTGTCCTTTTGGAGAAGTTTAGTTTCTAAAGCCAACCCCAGGATGCACCTTGTTTCTACTCTGGTACCAGCTGAACCATCTCTGTCACTCAGCCCCCTCCATGTCCTCTCCTGACACCAAGTCCCTTTGGGTTTTATGGAGCTCACCTAACCAGCTCGGCCCAGGCTGTAATGAGAGAGACCAGTGGAGTGTAAATTCCTGCAGGTGCAGGACAATGGGGTTGAGAGGGCTCTTACACCAGATGTCCCCTCAGCTCGAAGGGCAGAGAATCGGGTTCCAGAGTGTCCAAGTCTCCGGCCACCTGGTCATAGATTCCTCTTGGATCCTGATATGTGTCTTCAGGCCGTGGAGGTCCCAGGGTCCCTGACAGGCAAAAAGTGGAGTTAGAACCATGGAGAGATGCCCTGTAGGTCTTCATTGAAGATCTGGGGGATACATGCCCCTGCTTAACTTCCCAGAAAAAAGTGTTTTAGCTTTTACTAAAATCCCAACATATACAAAAAAGGAGTGTGATTATAATGAATGCTTATGATGAACCCCATGTGCTTATCACCTAACTTCAACAATATCAGGCTGGGCACGGTAGCTCATGCCTATAATTCCAGCACTTTGGGATGCCAAAGCAGGAGGATTGCTTGAGACCAGGAGTTCGAGACCAGCCTGGGCAACATAGTGAGATCCTGTATCTACAAAAAATAATTTTATTTTTCTTAGACAGGGTCTGGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTTAGCTCCCTGCAACCTCCACCTTCTGGGCTCAATCCATCCTCCCACTTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCATCACCACACCCAGCTAACTTTTGAATTTTTTTTTTTTTTAAAGACGAGGTTTCCATTGTGGCCCAGGCTGGTCTTGAACTCCTGAGTTCAATCGATCCACCCGTCTCAGCCTCCCAAAGTGCTGGGATTATAAGTCACTGGGATTATGAGCCACTGCACCGAGCCTATAAAAAATATTTTTAAAGAAATTAGCTAGGTGTGGTGGTGAGCGCCTATAGTCCTAGATACTCAGGAGGCTGAGGTAAGAGGATCGCTTGAGCCCCGGAGGTCAAGGCTGCAGTAAGCCATGATCATGCCACTGCACTCCCGCCTGGGTGACAGACTGAGACTATCTCAAAAAAAGAAAAAAAGAAAAAAGAAAAAACCAGTAGCAACCCTTGGTCAATTGATTTCTCTGTATTTCTATCTTGTTCCCCTCCCCGACTAACTGGATTATTTTGAAGCAAGCCCAAGATACCCAATGATTTCATGTTAGAAAAATAATGTAAATGTCAGAAATATAAAACCTTTAGGCCAAGCATGGTGACTCATGCCTGTAATCCTAGCATTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGATCAGGATTCGAGACCAGCCTGGGCAATGGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGATGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCTACTGCACTCCAGCCTGGGTTACAGAGCAAGCCTCCATCTCAAAAATAAATAAATAAATAAAATTTTTAAAAATGAAAACTTTAAAAGTCCATGTTATCAGGTATGGCAACTGTGGAATGTAAGTTATGATTATATTGTCCTATGAATTTCCAAAACAGTTCCCTAATCATAATAGAAAAACAAAACAAAGCAAAACCAAACAAACAACAACAACAAAAAGAACATGAATGGTAGCCCTAACTGGGGATGTATTTTGTTCTAGGGCTGGGAGAAAATGATTATTTTAGTTCAGCAAACTTTAGAGCAGATTGGCCCATGCTCCAAATATGGCCTGCCACCTGCTTTTTTATACTGCCCAAGAGCTAAGAATGGTTTTTATTTTTTTCTTTTTCTTTTTCTTTTTTTTTGAGACGGAGTCTTGGTTTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGATTCTCCTGCCTAGCCTCCCGAGTAGGTGGGACTACAGGCGCCAGCCACCACACCCGGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACCGTGCCCGGCCTGGTTTTTCATTTTTTAATTGTTGGGAAAAAATGAAAAAAGATAACATTTGTGACATAGAAAAATTACATGAAGTTCAAATTACAGTGTCCAAAAATTAAGTTTTGTAGGN
pathogenic
302,510
Variant at chromosome 19, position 35830863, gene NPHS1 (NPHS1 adhesion molecule, nephrin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
GCGTGCAGCCTCCATCTACGCTTTAGAGAGTGCATATGGTCCAGCACCATGGACAGCGCTTTGCGCCATGCTGGTGAGGAGCTAGGATCTGACAACAGTCCCGGTATCGGAGGTCGTTCACAGAGACAGAAGGAAATCCTTGGCCCAGGAGGTGCCAGAGCATCAGCCAAGGCCACACAGGAAATCAGGGGTTCTGTCCCATCTCCCTAACTGTGCAGCAATGGGTGGGGATTGGCTGGTGGTCAAAGTGCCTGTCTGTTGTTTTTGCCTGTACAGCCACCATCCTCATTTCCCTGTGAGCTCTCTGTCCCTCTCCTACTCTCAGCCCAGTGACCTGAGTGGGGCTGGCCCCTACTCCCTGATCCCATGGTGAACTGGCCCAGGCCTCTCCTGTTAGCATATTCCATCCCCTGACTCAGGGATGTGTTCAGTGATGAGGATGTGACCCAAGCTAGACCAATTAAGTGTCAGCATTGGGCATTTGGGGCCACTGGAAAACAGGTATACTCTTTCTTTGAAGATTTCTAATCTCGTAGGATACAAATCTAGATTTTCTGGGAATATTTTTTCCCTTTCTTTTTTGAAACAGTCTCTCAGGCTGGAATGCAGTGGCACAATCAGGGCTCATGGCAGCCTCAACTTCCCTGGCTCAGGCATTCCTCCTACCTCAGCCTCCTGAGTAGCTGAGACCACAGGCATGCACCACCATGCCCAGTTAATTTTTTAAACTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCATCAGCCTCCCAAGTAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGCCGTGACCATGCCTAGCCATAAAAACATTTTTAGGGAAGAAATTCTGGGCCCAGCTGGGCCTGATGACAATTGTATGCCTTGATTTTTCAGTTGAATGGGCCCCCAAATTCTCTCTTTCTCTCTCTTTAACCAGTGGAGTAGATATGGCTAATTATCTTTAAAAATTCATGTCTACTTCCTTCCACAGTAGCAGAATTGCAGCAAGGCACATCACTGCTAAGCTAGACCACATTTCACAGCCTCCTTTGCCGTCAGATGTGACCATGTGACTCTCTTCCCACCAGGGGAGTGAGAGCAGAGTGGTGTGCACCATTTCTGGGCCTGGGCCACAAGGCAGGGTTGTGCCTCCTCCACATTCTTTCACCTTTTCCCATGGGTTGAACCCCCAGTGAACTGGCTCATTCATGTAGACTCGGTTGACTTGAGCAGGGCCACTCACGTCTGACTGAAAAAGAAATAGACTGCCTTCTTTTTTTCAGAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACCATCATGGCTCACCGCAGCCTCCAACTCCTGAGCTCAAGGGATCCTCCTGGCTCAGCCTCCTGAGTAGCTGAGACTACAGGTGCACACCTCCATGCCTGGCTCATTTTAAAAAATGTTTTGTAGAGACAAGTCACTATATTGCCCAGGCTCGTCTCAAACTTATGGGCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGGACCATCATGCCCAGCCGACTGTCTTTAAGCCACTGGATCATGGTCAGGCCTCTTTGTTACAGCAGCTAGCTGGCCCTAACTAATACAAGCAATAGGAGGTAGGCTCCCAGCACTAGCCAGGAAGGATGGTTGCTGATGCAAAGCTTCTCACCATCTGCACTTCATCGTAGAGGGGTCCCCAGGCTCCAGACGGGGGGTACGTTCTTTCTACCTCATCATACAAGTGCCCAGGGAAGGCCATATCCTCATCTTCACCTGTGAAACCTGGAGTTGGAGTGGAAGGGAGACACGATCAAGGCACCCAGTCCAGGCGTCGGGGGTACCTCTGAGTGAGGGAATCCTGACATGGTCCTAACTCACCTCGGGAATAAGACACCTCCTCCTGCGTCGGGGGCAGCTGGGGGCTGAAGTCCCTCAGGGAGCGGTAATACGGCTCTGCCTCTGTTGTGCTGACCTGTTCCCCACACGCAAAACAAACAAAGCCCTTTCCATCCTCTGACCCCACTGTGCCCGGAAGGGCAATGATCAACCTGATGCTAACGGCAGGGCTTCAGTCGCCGTCGGTGCCCTGATTGTGGGGTCACCAGGGCCACCCCCACTTACCGTGGAGCTCTGAGTGTCCCGCTCTCCTGTCCACTGGCTCTCCTCATATTCGTTCCTGACTCGGTCCTCTTCCGACCTTCCAGGATGAAGGTGTGGGGGGAAGTTGAGTGCTGCCCCCCGCCACCAGTCTCCCCCAAACCTCCCTCAGAGCCTTCTTTACAGAAAAATATCCCCACTTACCCTGCCTCTGTCTTCTCTGAGATGCCTGAAGGAAACAGGAATAAAGGGCTCAGTGACCCTATGCAAGCCCCCCACCCCGGCCCCAGGAAGACCTTCAGTATGCAGCAACCACAGGGTTCCCTATCACCCTCGGGTCTCCACCCTGGCAGGGAAGGGTCTCTCCTCACCCTCAGCAAGACGCCTGAGTCTCCGCTGCCAGAGGACCCCCCCGACACAGGAGGCATTGGAGAGGAGCAGAAGCCCCCCAAGAGCGAACAGCACAGGCAGCAGGGGCAGCCCCGAGGGTCCTAGGGGTGGAAGATACCCCTCAGTGAATCCCAGACAACAGGCTGTAGGCCAGGGGTGGGTCTCCCCGAGAAAGTGTAGCCCTGACCAAGTCCCTCCCCCAGGGTCAGAGAAACAGATGGGCAGAGGTCTCTGTGCCCACCCTTTCTGCCCACCCAAGGGCAGGTGGCTTCTTTCTTAAGTCAAGCCATTAGCAAAACTTCCTCCGTTTGCTTGAACTCTGCAAACTCAGAACGGAACTCTGGACTCAGGAGGGAGCTTCAGCTCGTTAGCTGGGCACTGAAGACTTTCTGTGGTCCAGCCTCTTCCCACGCCTCCAGCCATGCCCACCAAACTTAGACCCTGGTACTGGACTGTCCAGCCACACAAATCAACCACCAGCTGTTTCCAGAATCACTGAAGCAAATTCACACCTCAGAGCTTTGGAATAGTTAAGTGTCTGTCCTCAAATGTCCTTTCTTCTCAAGCAAACTTCTGTTTGCCTTTCAAATTCTATCTCAAGGTCAGGCGCTGCAGCACATGCCTGTAATCCCAGCATGTTGGGAGGTCAAGGTGGGAGAATCGCTTGAGCCTAGGAGCTCAAGACCAGCCTAGGCAACATAGTGAGGCTGATTCTTTACAAAAAAAATTAAAAATTTAGCAGCATGGTGGTGCATGTCTATAGTCCCAGCTACTCGGGACACTGAAGCAAGAGGATTGCTTGAACCTGGTAAGTCAAGGCTCCAGTGAGCTATGATAGCACCACTGCACTCCAGCCTGGGCAGCAGAGCAAGACCCTGCCTCTGAAAAAAAAATCCCATCTCAAGGACTTCTTTATTTTATTTTGTTTTTTAATTAAGACGGAGTTGGCTGGGCACGGTGGCTCACGCCTATAATCCCAGCACTCTGGGAGGCTGAGGGGTTGGATCACAAGGTCAGGAGTTCAAAACCAGCCTGGCCGATATGGTAAAACCCTGTCTCTACTAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGGGAATCACTTGAACTGGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGA
GCGTGCAGCCTCCATCTACGCTTTAGAGAGTGCATATGGTCCAGCACCATGGACAGCGCTTTGCGCCATGCTGGTGAGGAGCTAGGATCTGACAACAGTCCCGGTATCGGAGGTCGTTCACAGAGACAGAAGGAAATCCTTGGCCCAGGAGGTGCCAGAGCATCAGCCAAGGCCACACAGGAAATCAGGGGTTCTGTCCCATCTCCCTAACTGTGCAGCAATGGGTGGGGATTGGCTGGTGGTCAAAGTGCCTGTCTGTTGTTTTTGCCTGTACAGCCACCATCCTCATTTCCCTGTGAGCTCTCTGTCCCTCTCCTACTCTCAGCCCAGTGACCTGAGTGGGGCTGGCCCCTACTCCCTGATCCCATGGTGAACTGGCCCAGGCCTCTCCTGTTAGCATATTCCATCCCCTGACTCAGGGATGTGTTCAGTGATGAGGATGTGACCCAAGCTAGACCAATTAAGTGTCAGCATTGGGCATTTGGGGCCACTGGAAAACAGGTATACTCTTTCTTTGAAGATTTCTAATCTCGTAGGATACAAATCTAGATTTTCTGGGAATATTTTTTCCCTTTCTTTTTTGAAACAGTCTCTCAGGCTGGAATGCAGTGGCACAATCAGGGCTCATGGCAGCCTCAACTTCCCTGGCTCAGGCATTCCTCCTACCTCAGCCTCCTGAGTAGCTGAGACCACAGGCATGCACCACCATGCCCAGTTAATTTTTTAAACTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCATCAGCCTCCCAAGTAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGCCGTGACCATGCCTAGCCATAAAAACATTTTTAGGGAAGAAATTCTGGGCCCAGCTGGGCCTGATGACAATTGTATGCCTTGATTTTTCAGTTGAATGGGCCCCCAAATTCTCTCTTTCTCTCTCTTTAACCAGTGGAGTAGATATGGCTAATTATCTTTAAAAATTCATGTCTACTTCCTTCCACAGTAGCAGAATTGCAGCAAGGCACATCACTGCTAAGCTAGACCACATTTCACAGCCTCCTTTGCCGTCAGATGTGACCATGTGACTCTCTTCCCACCAGGGGAGTGAGAGCAGAGTGGTGTGCACCATTTCTGGGCCTGGGCCACAAGGCAGGGTTGTGCCTCCTCCACATTCTTTCACCTTTTCCCATGGGTTGAACCCCCAGTGAACTGGCTCATTCATGTAGACTCGGTTGACTTGAGCAGGGCCACTCACGTCTGACTGAAAAAGAAATAGACTGCCTTCTTTTTTTCAGAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACCATCATGGCTCACCGCAGCCTCCAACTCCTGAGCTCAAGGGATCCTCCTGGCTCAGCCTCCTGAGTAGCTGAGACTACAGGTGCACACCTCCATGCCTGGCTCATTTTAAAAAATGTTTTGTAGAGACAAGTCACTATATTGCCCAGGCTCGTCTCAAACTTATGGGCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGGACCATCATGCCCAGCCGACTGTCTTTAAGCCACTGGATCATGGTCAGGCCTCTTTGTTACAGCAGCTAGCTGGCCCTAACTAATACAAGCAATAGGAGGTAGGCTCCCAGCACTAGCCAGGAAGGATGGTTGCTGATGCAAAGCTTCTCACCATCTGCACTTCATCGTAGAGGGGGGTACGTTCTTTCTACCTCATCATACAAGTGCCCAGGGAAGGCCATATCCTCATCTTCACCTGTGAAACCTGGAGTTGGAGTGGAAGGGAGACACGATCAAGGCACCCAGTCCAGGCGTCGGGGGTACCTCTGAGTGAGGGAATCCTGACATGGTCCTAACTCACCTCGGGAATAAGACACCTCCTCCTGCGTCGGGGGCAGCTGGGGGCTGAAGTCCCTCAGGGAGCGGTAATACGGCTCTGCCTCTGTTGTGCTGACCTGTTCCCCACACGCAAAACAAACAAAGCCCTTTCCATCCTCTGACCCCACTGTGCCCGGAAGGGCAATGATCAACCTGATGCTAACGGCAGGGCTTCAGTCGCCGTCGGTGCCCTGATTGTGGGGTCACCAGGGCCACCCCCACTTACCGTGGAGCTCTGAGTGTCCCGCTCTCCTGTCCACTGGCTCTCCTCATATTCGTTCCTGACTCGGTCCTCTTCCGACCTTCCAGGATGAAGGTGTGGGGGGAAGTTGAGTGCTGCCCCCCGCCACCAGTCTCCCCCAAACCTCCCTCAGAGCCTTCTTTACAGAAAAATATCCCCACTTACCCTGCCTCTGTCTTCTCTGAGATGCCTGAAGGAAACAGGAATAAAGGGCTCAGTGACCCTATGCAAGCCCCCCACCCCGGCCCCAGGAAGACCTTCAGTATGCAGCAACCACAGGGTTCCCTATCACCCTCGGGTCTCCACCCTGGCAGGGAAGGGTCTCTCCTCACCCTCAGCAAGACGCCTGAGTCTCCGCTGCCAGAGGACCCCCCCGACACAGGAGGCATTGGAGAGGAGCAGAAGCCCCCCAAGAGCGAACAGCACAGGCAGCAGGGGCAGCCCCGAGGGTCCTAGGGGTGGAAGATACCCCTCAGTGAATCCCAGACAACAGGCTGTAGGCCAGGGGTGGGTCTCCCCGAGAAAGTGTAGCCCTGACCAAGTCCCTCCCCCAGGGTCAGAGAAACAGATGGGCAGAGGTCTCTGTGCCCACCCTTTCTGCCCACCCAAGGGCAGGTGGCTTCTTTCTTAAGTCAAGCCATTAGCAAAACTTCCTCCGTTTGCTTGAACTCTGCAAACTCAGAACGGAACTCTGGACTCAGGAGGGAGCTTCAGCTCGTTAGCTGGGCACTGAAGACTTTCTGTGGTCCAGCCTCTTCCCACGCCTCCAGCCATGCCCACCAAACTTAGACCCTGGTACTGGACTGTCCAGCCACACAAATCAACCACCAGCTGTTTCCAGAATCACTGAAGCAAATTCACACCTCAGAGCTTTGGAATAGTTAAGTGTCTGTCCTCAAATGTCCTTTCTTCTCAAGCAAACTTCTGTTTGCCTTTCAAATTCTATCTCAAGGTCAGGCGCTGCAGCACATGCCTGTAATCCCAGCATGTTGGGAGGTCAAGGTGGGAGAATCGCTTGAGCCTAGGAGCTCAAGACCAGCCTAGGCAACATAGTGAGGCTGATTCTTTACAAAAAAAATTAAAAATTTAGCAGCATGGTGGTGCATGTCTATAGTCCCAGCTACTCGGGACACTGAAGCAAGAGGATTGCTTGAACCTGGTAAGTCAAGGCTCCAGTGAGCTATGATAGCACCACTGCACTCCAGCCTGGGCAGCAGAGCAAGACCCTGCCTCTGAAAAAAAAATCCCATCTCAAGGACTTCTTTATTTTATTTTGTTTTTTAATTAAGACGGAGTTGGCTGGGCACGGTGGCTCACGCCTATAATCCCAGCACTCTGGGAGGCTGAGGGGTTGGATCACAAGGTCAGGAGTTCAAAACCAGCCTGGCCGATATGGTAAAACCCTGTCTCTACTAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGGGAATCACTTGAACTGGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGANNNNNNNNNNNNNNNNNNNN
pathogenic
302,518
Is the genetic variant on chromosome 19, position 35830883, gene NPHS1 (NPHS1 adhesion molecule, nephrin), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
CTTTAGAGAGTGCATATGGTCCAGCACCATGGACAGCGCTTTGCGCCATGCTGGTGAGGAGCTAGGATCTGACAACAGTCCCGGTATCGGAGGTCGTTCACAGAGACAGAAGGAAATCCTTGGCCCAGGAGGTGCCAGAGCATCAGCCAAGGCCACACAGGAAATCAGGGGTTCTGTCCCATCTCCCTAACTGTGCAGCAATGGGTGGGGATTGGCTGGTGGTCAAAGTGCCTGTCTGTTGTTTTTGCCTGTACAGCCACCATCCTCATTTCCCTGTGAGCTCTCTGTCCCTCTCCTACTCTCAGCCCAGTGACCTGAGTGGGGCTGGCCCCTACTCCCTGATCCCATGGTGAACTGGCCCAGGCCTCTCCTGTTAGCATATTCCATCCCCTGACTCAGGGATGTGTTCAGTGATGAGGATGTGACCCAAGCTAGACCAATTAAGTGTCAGCATTGGGCATTTGGGGCCACTGGAAAACAGGTATACTCTTTCTTTGAAGATTTCTAATCTCGTAGGATACAAATCTAGATTTTCTGGGAATATTTTTTCCCTTTCTTTTTTGAAACAGTCTCTCAGGCTGGAATGCAGTGGCACAATCAGGGCTCATGGCAGCCTCAACTTCCCTGGCTCAGGCATTCCTCCTACCTCAGCCTCCTGAGTAGCTGAGACCACAGGCATGCACCACCATGCCCAGTTAATTTTTTAAACTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCATCAGCCTCCCAAGTAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGCCGTGACCATGCCTAGCCATAAAAACATTTTTAGGGAAGAAATTCTGGGCCCAGCTGGGCCTGATGACAATTGTATGCCTTGATTTTTCAGTTGAATGGGCCCCCAAATTCTCTCTTTCTCTCTCTTTAACCAGTGGAGTAGATATGGCTAATTATCTTTAAAAATTCATGTCTACTTCCTTCCACAGTAGCAGAATTGCAGCAAGGCACATCACTGCTAAGCTAGACCACATTTCACAGCCTCCTTTGCCGTCAGATGTGACCATGTGACTCTCTTCCCACCAGGGGAGTGAGAGCAGAGTGGTGTGCACCATTTCTGGGCCTGGGCCACAAGGCAGGGTTGTGCCTCCTCCACATTCTTTCACCTTTTCCCATGGGTTGAACCCCCAGTGAACTGGCTCATTCATGTAGACTCGGTTGACTTGAGCAGGGCCACTCACGTCTGACTGAAAAAGAAATAGACTGCCTTCTTTTTTTCAGAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACCATCATGGCTCACCGCAGCCTCCAACTCCTGAGCTCAAGGGATCCTCCTGGCTCAGCCTCCTGAGTAGCTGAGACTACAGGTGCACACCTCCATGCCTGGCTCATTTTAAAAAATGTTTTGTAGAGACAAGTCACTATATTGCCCAGGCTCGTCTCAAACTTATGGGCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGGACCATCATGCCCAGCCGACTGTCTTTAAGCCACTGGATCATGGTCAGGCCTCTTTGTTACAGCAGCTAGCTGGCCCTAACTAATACAAGCAATAGGAGGTAGGCTCCCAGCACTAGCCAGGAAGGATGGTTGCTGATGCAAAGCTTCTCACCATCTGCACTTCATCGTAGAGGGGTCCCCAGGCTCCAGACGGGGGGTACGTTCTTTCTACCTCATCATACAAGTGCCCAGGGAAGGCCATATCCTCATCTTCACCTGTGAAACCTGGAGTTGGAGTGGAAGGGAGACACGATCAAGGCACCCAGTCCAGGCGTCGGGGGTACCTCTGAGTGAGGGAATCCTGACATGGTCCTAACTCACCTCGGGAATAAGACACCTCCTCCTGCGTCGGGGGCAGCTGGGGGCTGAAGTCCCTCAGGGAGCGGTAATACGGCTCTGCCTCTGTTGTGCTGACCTGTTCCCCACACGCAAAACAAACAAAGCCCTTTCCATCCTCTGACCCCACTGTGCCCGGAAGGGCAATGATCAACCTGATGCTAACGGCAGGGCTTCAGTCGCCGTCGGTGCCCTGATTGTGGGGTCACCAGGGCCACCCCCACTTACCGTGGAGCTCTGAGTGTCCCGCTCTCCTGTCCACTGGCTCTCCTCATATTCGTTCCTGACTCGGTCCTCTTCCGACCTTCCAGGATGAAGGTGTGGGGGGAAGTTGAGTGCTGCCCCCCGCCACCAGTCTCCCCCAAACCTCCCTCAGAGCCTTCTTTACAGAAAAATATCCCCACTTACCCTGCCTCTGTCTTCTCTGAGATGCCTGAAGGAAACAGGAATAAAGGGCTCAGTGACCCTATGCAAGCCCCCCACCCCGGCCCCAGGAAGACCTTCAGTATGCAGCAACCACAGGGTTCCCTATCACCCTCGGGTCTCCACCCTGGCAGGGAAGGGTCTCTCCTCACCCTCAGCAAGACGCCTGAGTCTCCGCTGCCAGAGGACCCCCCCGACACAGGAGGCATTGGAGAGGAGCAGAAGCCCCCCAAGAGCGAACAGCACAGGCAGCAGGGGCAGCCCCGAGGGTCCTAGGGGTGGAAGATACCCCTCAGTGAATCCCAGACAACAGGCTGTAGGCCAGGGGTGGGTCTCCCCGAGAAAGTGTAGCCCTGACCAAGTCCCTCCCCCAGGGTCAGAGAAACAGATGGGCAGAGGTCTCTGTGCCCACCCTTTCTGCCCACCCAAGGGCAGGTGGCTTCTTTCTTAAGTCAAGCCATTAGCAAAACTTCCTCCGTTTGCTTGAACTCTGCAAACTCAGAACGGAACTCTGGACTCAGGAGGGAGCTTCAGCTCGTTAGCTGGGCACTGAAGACTTTCTGTGGTCCAGCCTCTTCCCACGCCTCCAGCCATGCCCACCAAACTTAGACCCTGGTACTGGACTGTCCAGCCACACAAATCAACCACCAGCTGTTTCCAGAATCACTGAAGCAAATTCACACCTCAGAGCTTTGGAATAGTTAAGTGTCTGTCCTCAAATGTCCTTTCTTCTCAAGCAAACTTCTGTTTGCCTTTCAAATTCTATCTCAAGGTCAGGCGCTGCAGCACATGCCTGTAATCCCAGCATGTTGGGAGGTCAAGGTGGGAGAATCGCTTGAGCCTAGGAGCTCAAGACCAGCCTAGGCAACATAGTGAGGCTGATTCTTTACAAAAAAAATTAAAAATTTAGCAGCATGGTGGTGCATGTCTATAGTCCCAGCTACTCGGGACACTGAAGCAAGAGGATTGCTTGAACCTGGTAAGTCAAGGCTCCAGTGAGCTATGATAGCACCACTGCACTCCAGCCTGGGCAGCAGAGCAAGACCCTGCCTCTGAAAAAAAAATCCCATCTCAAGGACTTCTTTATTTTATTTTGTTTTTTAATTAAGACGGAGTTGGCTGGGCACGGTGGCTCACGCCTATAATCCCAGCACTCTGGGAGGCTGAGGGGTTGGATCACAAGGTCAGGAGTTCAAAACCAGCCTGGCCGATATGGTAAAACCCTGTCTCTACTAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGGGAATCACTTGAACTGGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTCTCACTCTTTCACCCAGG
CTTTAGAGAGTGCATATGGTCCAGCACCATGGACAGCGCTTTGCGCCATGCTGGTGAGGAGCTAGGATCTGACAACAGTCCCGGTATCGGAGGTCGTTCACAGAGACAGAAGGAAATCCTTGGCCCAGGAGGTGCCAGAGCATCAGCCAAGGCCACACAGGAAATCAGGGGTTCTGTCCCATCTCCCTAACTGTGCAGCAATGGGTGGGGATTGGCTGGTGGTCAAAGTGCCTGTCTGTTGTTTTTGCCTGTACAGCCACCATCCTCATTTCCCTGTGAGCTCTCTGTCCCTCTCCTACTCTCAGCCCAGTGACCTGAGTGGGGCTGGCCCCTACTCCCTGATCCCATGGTGAACTGGCCCAGGCCTCTCCTGTTAGCATATTCCATCCCCTGACTCAGGGATGTGTTCAGTGATGAGGATGTGACCCAAGCTAGACCAATTAAGTGTCAGCATTGGGCATTTGGGGCCACTGGAAAACAGGTATACTCTTTCTTTGAAGATTTCTAATCTCGTAGGATACAAATCTAGATTTTCTGGGAATATTTTTTCCCTTTCTTTTTTGAAACAGTCTCTCAGGCTGGAATGCAGTGGCACAATCAGGGCTCATGGCAGCCTCAACTTCCCTGGCTCAGGCATTCCTCCTACCTCAGCCTCCTGAGTAGCTGAGACCACAGGCATGCACCACCATGCCCAGTTAATTTTTTAAACTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCATCAGCCTCCCAAGTAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGCCGTGACCATGCCTAGCCATAAAAACATTTTTAGGGAAGAAATTCTGGGCCCAGCTGGGCCTGATGACAATTGTATGCCTTGATTTTTCAGTTGAATGGGCCCCCAAATTCTCTCTTTCTCTCTCTTTAACCAGTGGAGTAGATATGGCTAATTATCTTTAAAAATTCATGTCTACTTCCTTCCACAGTAGCAGAATTGCAGCAAGGCACATCACTGCTAAGCTAGACCACATTTCACAGCCTCCTTTGCCGTCAGATGTGACCATGTGACTCTCTTCCCACCAGGGGAGTGAGAGCAGAGTGGTGTGCACCATTTCTGGGCCTGGGCCACAAGGCAGGGTTGTGCCTCCTCCACATTCTTTCACCTTTTCCCATGGGTTGAACCCCCAGTGAACTGGCTCATTCATGTAGACTCGGTTGACTTGAGCAGGGCCACTCACGTCTGACTGAAAAAGAAATAGACTGCCTTCTTTTTTTCAGAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACCATCATGGCTCACCGCAGCCTCCAACTCCTGAGCTCAAGGGATCCTCCTGGCTCAGCCTCCTGAGTAGCTGAGACTACAGGTGCACACCTCCATGCCTGGCTCATTTTAAAAAATGTTTTGTAGAGACAAGTCACTATATTGCCCAGGCTCGTCTCAAACTTATGGGCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGGACCATCATGCCCAGCCGACTGTCTTTAAGCCACTGGATCATGGTCAGGCCTCTTTGTTACAGCAGCTAGCTGGCCCTAACTAATACAAGCAATAGGAGGTAGGCTCCCAGCACTAGCCAGGAAGGATGGTTGCTGATGCAAAGCTTCTCACCATCTGCACTTCATCGTAGAGGGGTCCCCAGGCTCCAGACGGGGGGGTACGTTCTTTCTACCTCATCATACAAGTGCCCAGGGAAGGCCATATCCTCATCTTCACCTGTGAAACCTGGAGTTGGAGTGGAAGGGAGACACGATCAAGGCACCCAGTCCAGGCGTCGGGGGTACCTCTGAGTGAGGGAATCCTGACATGGTCCTAACTCACCTCGGGAATAAGACACCTCCTCCTGCGTCGGGGGCAGCTGGGGGCTGAAGTCCCTCAGGGAGCGGTAATACGGCTCTGCCTCTGTTGTGCTGACCTGTTCCCCACACGCAAAACAAACAAAGCCCTTTCCATCCTCTGACCCCACTGTGCCCGGAAGGGCAATGATCAACCTGATGCTAACGGCAGGGCTTCAGTCGCCGTCGGTGCCCTGATTGTGGGGTCACCAGGGCCACCCCCACTTACCGTGGAGCTCTGAGTGTCCCGCTCTCCTGTCCACTGGCTCTCCTCATATTCGTTCCTGACTCGGTCCTCTTCCGACCTTCCAGGATGAAGGTGTGGGGGGAAGTTGAGTGCTGCCCCCCGCCACCAGTCTCCCCCAAACCTCCCTCAGAGCCTTCTTTACAGAAAAATATCCCCACTTACCCTGCCTCTGTCTTCTCTGAGATGCCTGAAGGAAACAGGAATAAAGGGCTCAGTGACCCTATGCAAGCCCCCCACCCCGGCCCCAGGAAGACCTTCAGTATGCAGCAACCACAGGGTTCCCTATCACCCTCGGGTCTCCACCCTGGCAGGGAAGGGTCTCTCCTCACCCTCAGCAAGACGCCTGAGTCTCCGCTGCCAGAGGACCCCCCCGACACAGGAGGCATTGGAGAGGAGCAGAAGCCCCCCAAGAGCGAACAGCACAGGCAGCAGGGGCAGCCCCGAGGGTCCTAGGGGTGGAAGATACCCCTCAGTGAATCCCAGACAACAGGCTGTAGGCCAGGGGTGGGTCTCCCCGAGAAAGTGTAGCCCTGACCAAGTCCCTCCCCCAGGGTCAGAGAAACAGATGGGCAGAGGTCTCTGTGCCCACCCTTTCTGCCCACCCAAGGGCAGGTGGCTTCTTTCTTAAGTCAAGCCATTAGCAAAACTTCCTCCGTTTGCTTGAACTCTGCAAACTCAGAACGGAACTCTGGACTCAGGAGGGAGCTTCAGCTCGTTAGCTGGGCACTGAAGACTTTCTGTGGTCCAGCCTCTTCCCACGCCTCCAGCCATGCCCACCAAACTTAGACCCTGGTACTGGACTGTCCAGCCACACAAATCAACCACCAGCTGTTTCCAGAATCACTGAAGCAAATTCACACCTCAGAGCTTTGGAATAGTTAAGTGTCTGTCCTCAAATGTCCTTTCTTCTCAAGCAAACTTCTGTTTGCCTTTCAAATTCTATCTCAAGGTCAGGCGCTGCAGCACATGCCTGTAATCCCAGCATGTTGGGAGGTCAAGGTGGGAGAATCGCTTGAGCCTAGGAGCTCAAGACCAGCCTAGGCAACATAGTGAGGCTGATTCTTTACAAAAAAAATTAAAAATTTAGCAGCATGGTGGTGCATGTCTATAGTCCCAGCTACTCGGGACACTGAAGCAAGAGGATTGCTTGAACCTGGTAAGTCAAGGCTCCAGTGAGCTATGATAGCACCACTGCACTCCAGCCTGGGCAGCAGAGCAAGACCCTGCCTCTGAAAAAAAAATCCCATCTCAAGGACTTCTTTATTTTATTTTGTTTTTTAATTAAGACGGAGTTGGCTGGGCACGGTGGCTCACGCCTATAATCCCAGCACTCTGGGAGGCTGAGGGGTTGGATCACAAGGTCAGGAGTTCAAAACCAGCCTGGCCGATATGGTAAAACCCTGTCTCTACTAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGGGAATCACTTGAACTGGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTCTCACTCTTTCACCCAG
pathogenic
302,519
Determine whether the variant at chromosome 19, position 35830883, in gene NPHS1 (NPHS1 adhesion molecule, nephrin) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
CTTTAGAGAGTGCATATGGTCCAGCACCATGGACAGCGCTTTGCGCCATGCTGGTGAGGAGCTAGGATCTGACAACAGTCCCGGTATCGGAGGTCGTTCACAGAGACAGAAGGAAATCCTTGGCCCAGGAGGTGCCAGAGCATCAGCCAAGGCCACACAGGAAATCAGGGGTTCTGTCCCATCTCCCTAACTGTGCAGCAATGGGTGGGGATTGGCTGGTGGTCAAAGTGCCTGTCTGTTGTTTTTGCCTGTACAGCCACCATCCTCATTTCCCTGTGAGCTCTCTGTCCCTCTCCTACTCTCAGCCCAGTGACCTGAGTGGGGCTGGCCCCTACTCCCTGATCCCATGGTGAACTGGCCCAGGCCTCTCCTGTTAGCATATTCCATCCCCTGACTCAGGGATGTGTTCAGTGATGAGGATGTGACCCAAGCTAGACCAATTAAGTGTCAGCATTGGGCATTTGGGGCCACTGGAAAACAGGTATACTCTTTCTTTGAAGATTTCTAATCTCGTAGGATACAAATCTAGATTTTCTGGGAATATTTTTTCCCTTTCTTTTTTGAAACAGTCTCTCAGGCTGGAATGCAGTGGCACAATCAGGGCTCATGGCAGCCTCAACTTCCCTGGCTCAGGCATTCCTCCTACCTCAGCCTCCTGAGTAGCTGAGACCACAGGCATGCACCACCATGCCCAGTTAATTTTTTAAACTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCATCAGCCTCCCAAGTAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGCCGTGACCATGCCTAGCCATAAAAACATTTTTAGGGAAGAAATTCTGGGCCCAGCTGGGCCTGATGACAATTGTATGCCTTGATTTTTCAGTTGAATGGGCCCCCAAATTCTCTCTTTCTCTCTCTTTAACCAGTGGAGTAGATATGGCTAATTATCTTTAAAAATTCATGTCTACTTCCTTCCACAGTAGCAGAATTGCAGCAAGGCACATCACTGCTAAGCTAGACCACATTTCACAGCCTCCTTTGCCGTCAGATGTGACCATGTGACTCTCTTCCCACCAGGGGAGTGAGAGCAGAGTGGTGTGCACCATTTCTGGGCCTGGGCCACAAGGCAGGGTTGTGCCTCCTCCACATTCTTTCACCTTTTCCCATGGGTTGAACCCCCAGTGAACTGGCTCATTCATGTAGACTCGGTTGACTTGAGCAGGGCCACTCACGTCTGACTGAAAAAGAAATAGACTGCCTTCTTTTTTTCAGAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACCATCATGGCTCACCGCAGCCTCCAACTCCTGAGCTCAAGGGATCCTCCTGGCTCAGCCTCCTGAGTAGCTGAGACTACAGGTGCACACCTCCATGCCTGGCTCATTTTAAAAAATGTTTTGTAGAGACAAGTCACTATATTGCCCAGGCTCGTCTCAAACTTATGGGCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGGACCATCATGCCCAGCCGACTGTCTTTAAGCCACTGGATCATGGTCAGGCCTCTTTGTTACAGCAGCTAGCTGGCCCTAACTAATACAAGCAATAGGAGGTAGGCTCCCAGCACTAGCCAGGAAGGATGGTTGCTGATGCAAAGCTTCTCACCATCTGCACTTCATCGTAGAGGGGTCCCCAGGCTCCAGACGGGGGGTACGTTCTTTCTACCTCATCATACAAGTGCCCAGGGAAGGCCATATCCTCATCTTCACCTGTGAAACCTGGAGTTGGAGTGGAAGGGAGACACGATCAAGGCACCCAGTCCAGGCGTCGGGGGTACCTCTGAGTGAGGGAATCCTGACATGGTCCTAACTCACCTCGGGAATAAGACACCTCCTCCTGCGTCGGGGGCAGCTGGGGGCTGAAGTCCCTCAGGGAGCGGTAATACGGCTCTGCCTCTGTTGTGCTGACCTGTTCCCCACACGCAAAACAAACAAAGCCCTTTCCATCCTCTGACCCCACTGTGCCCGGAAGGGCAATGATCAACCTGATGCTAACGGCAGGGCTTCAGTCGCCGTCGGTGCCCTGATTGTGGGGTCACCAGGGCCACCCCCACTTACCGTGGAGCTCTGAGTGTCCCGCTCTCCTGTCCACTGGCTCTCCTCATATTCGTTCCTGACTCGGTCCTCTTCCGACCTTCCAGGATGAAGGTGTGGGGGGAAGTTGAGTGCTGCCCCCCGCCACCAGTCTCCCCCAAACCTCCCTCAGAGCCTTCTTTACAGAAAAATATCCCCACTTACCCTGCCTCTGTCTTCTCTGAGATGCCTGAAGGAAACAGGAATAAAGGGCTCAGTGACCCTATGCAAGCCCCCCACCCCGGCCCCAGGAAGACCTTCAGTATGCAGCAACCACAGGGTTCCCTATCACCCTCGGGTCTCCACCCTGGCAGGGAAGGGTCTCTCCTCACCCTCAGCAAGACGCCTGAGTCTCCGCTGCCAGAGGACCCCCCCGACACAGGAGGCATTGGAGAGGAGCAGAAGCCCCCCAAGAGCGAACAGCACAGGCAGCAGGGGCAGCCCCGAGGGTCCTAGGGGTGGAAGATACCCCTCAGTGAATCCCAGACAACAGGCTGTAGGCCAGGGGTGGGTCTCCCCGAGAAAGTGTAGCCCTGACCAAGTCCCTCCCCCAGGGTCAGAGAAACAGATGGGCAGAGGTCTCTGTGCCCACCCTTTCTGCCCACCCAAGGGCAGGTGGCTTCTTTCTTAAGTCAAGCCATTAGCAAAACTTCCTCCGTTTGCTTGAACTCTGCAAACTCAGAACGGAACTCTGGACTCAGGAGGGAGCTTCAGCTCGTTAGCTGGGCACTGAAGACTTTCTGTGGTCCAGCCTCTTCCCACGCCTCCAGCCATGCCCACCAAACTTAGACCCTGGTACTGGACTGTCCAGCCACACAAATCAACCACCAGCTGTTTCCAGAATCACTGAAGCAAATTCACACCTCAGAGCTTTGGAATAGTTAAGTGTCTGTCCTCAAATGTCCTTTCTTCTCAAGCAAACTTCTGTTTGCCTTTCAAATTCTATCTCAAGGTCAGGCGCTGCAGCACATGCCTGTAATCCCAGCATGTTGGGAGGTCAAGGTGGGAGAATCGCTTGAGCCTAGGAGCTCAAGACCAGCCTAGGCAACATAGTGAGGCTGATTCTTTACAAAAAAAATTAAAAATTTAGCAGCATGGTGGTGCATGTCTATAGTCCCAGCTACTCGGGACACTGAAGCAAGAGGATTGCTTGAACCTGGTAAGTCAAGGCTCCAGTGAGCTATGATAGCACCACTGCACTCCAGCCTGGGCAGCAGAGCAAGACCCTGCCTCTGAAAAAAAAATCCCATCTCAAGGACTTCTTTATTTTATTTTGTTTTTTAATTAAGACGGAGTTGGCTGGGCACGGTGGCTCACGCCTATAATCCCAGCACTCTGGGAGGCTGAGGGGTTGGATCACAAGGTCAGGAGTTCAAAACCAGCCTGGCCGATATGGTAAAACCCTGTCTCTACTAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGGGAATCACTTGAACTGGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTCTCACTCTTTCACCCAGG
CTTTAGAGAGTGCATATGGTCCAGCACCATGGACAGCGCTTTGCGCCATGCTGGTGAGGAGCTAGGATCTGACAACAGTCCCGGTATCGGAGGTCGTTCACAGAGACAGAAGGAAATCCTTGGCCCAGGAGGTGCCAGAGCATCAGCCAAGGCCACACAGGAAATCAGGGGTTCTGTCCCATCTCCCTAACTGTGCAGCAATGGGTGGGGATTGGCTGGTGGTCAAAGTGCCTGTCTGTTGTTTTTGCCTGTACAGCCACCATCCTCATTTCCCTGTGAGCTCTCTGTCCCTCTCCTACTCTCAGCCCAGTGACCTGAGTGGGGCTGGCCCCTACTCCCTGATCCCATGGTGAACTGGCCCAGGCCTCTCCTGTTAGCATATTCCATCCCCTGACTCAGGGATGTGTTCAGTGATGAGGATGTGACCCAAGCTAGACCAATTAAGTGTCAGCATTGGGCATTTGGGGCCACTGGAAAACAGGTATACTCTTTCTTTGAAGATTTCTAATCTCGTAGGATACAAATCTAGATTTTCTGGGAATATTTTTTCCCTTTCTTTTTTGAAACAGTCTCTCAGGCTGGAATGCAGTGGCACAATCAGGGCTCATGGCAGCCTCAACTTCCCTGGCTCAGGCATTCCTCCTACCTCAGCCTCCTGAGTAGCTGAGACCACAGGCATGCACCACCATGCCCAGTTAATTTTTTAAACTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCATCAGCCTCCCAAGTAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGCCGTGACCATGCCTAGCCATAAAAACATTTTTAGGGAAGAAATTCTGGGCCCAGCTGGGCCTGATGACAATTGTATGCCTTGATTTTTCAGTTGAATGGGCCCCCAAATTCTCTCTTTCTCTCTCTTTAACCAGTGGAGTAGATATGGCTAATTATCTTTAAAAATTCATGTCTACTTCCTTCCACAGTAGCAGAATTGCAGCAAGGCACATCACTGCTAAGCTAGACCACATTTCACAGCCTCCTTTGCCGTCAGATGTGACCATGTGACTCTCTTCCCACCAGGGGAGTGAGAGCAGAGTGGTGTGCACCATTTCTGGGCCTGGGCCACAAGGCAGGGTTGTGCCTCCTCCACATTCTTTCACCTTTTCCCATGGGTTGAACCCCCAGTGAACTGGCTCATTCATGTAGACTCGGTTGACTTGAGCAGGGCCACTCACGTCTGACTGAAAAAGAAATAGACTGCCTTCTTTTTTTCAGAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACCATCATGGCTCACCGCAGCCTCCAACTCCTGAGCTCAAGGGATCCTCCTGGCTCAGCCTCCTGAGTAGCTGAGACTACAGGTGCACACCTCCATGCCTGGCTCATTTTAAAAAATGTTTTGTAGAGACAAGTCACTATATTGCCCAGGCTCGTCTCAAACTTATGGGCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGGACCATCATGCCCAGCCGACTGTCTTTAAGCCACTGGATCATGGTCAGGCCTCTTTGTTACAGCAGCTAGCTGGCCCTAACTAATACAAGCAATAGGAGGTAGGCTCCCAGCACTAGCCAGGAAGGATGGTTGCTGATGCAAAGCTTCTCACCATCTGCACTTCATCGTAGAGGGGTCCCCAGGCTCCAGACGGGGGTACGTTCTTTCTACCTCATCATACAAGTGCCCAGGGAAGGCCATATCCTCATCTTCACCTGTGAAACCTGGAGTTGGAGTGGAAGGGAGACACGATCAAGGCACCCAGTCCAGGCGTCGGGGGTACCTCTGAGTGAGGGAATCCTGACATGGTCCTAACTCACCTCGGGAATAAGACACCTCCTCCTGCGTCGGGGGCAGCTGGGGGCTGAAGTCCCTCAGGGAGCGGTAATACGGCTCTGCCTCTGTTGTGCTGACCTGTTCCCCACACGCAAAACAAACAAAGCCCTTTCCATCCTCTGACCCCACTGTGCCCGGAAGGGCAATGATCAACCTGATGCTAACGGCAGGGCTTCAGTCGCCGTCGGTGCCCTGATTGTGGGGTCACCAGGGCCACCCCCACTTACCGTGGAGCTCTGAGTGTCCCGCTCTCCTGTCCACTGGCTCTCCTCATATTCGTTCCTGACTCGGTCCTCTTCCGACCTTCCAGGATGAAGGTGTGGGGGGAAGTTGAGTGCTGCCCCCCGCCACCAGTCTCCCCCAAACCTCCCTCAGAGCCTTCTTTACAGAAAAATATCCCCACTTACCCTGCCTCTGTCTTCTCTGAGATGCCTGAAGGAAACAGGAATAAAGGGCTCAGTGACCCTATGCAAGCCCCCCACCCCGGCCCCAGGAAGACCTTCAGTATGCAGCAACCACAGGGTTCCCTATCACCCTCGGGTCTCCACCCTGGCAGGGAAGGGTCTCTCCTCACCCTCAGCAAGACGCCTGAGTCTCCGCTGCCAGAGGACCCCCCCGACACAGGAGGCATTGGAGAGGAGCAGAAGCCCCCCAAGAGCGAACAGCACAGGCAGCAGGGGCAGCCCCGAGGGTCCTAGGGGTGGAAGATACCCCTCAGTGAATCCCAGACAACAGGCTGTAGGCCAGGGGTGGGTCTCCCCGAGAAAGTGTAGCCCTGACCAAGTCCCTCCCCCAGGGTCAGAGAAACAGATGGGCAGAGGTCTCTGTGCCCACCCTTTCTGCCCACCCAAGGGCAGGTGGCTTCTTTCTTAAGTCAAGCCATTAGCAAAACTTCCTCCGTTTGCTTGAACTCTGCAAACTCAGAACGGAACTCTGGACTCAGGAGGGAGCTTCAGCTCGTTAGCTGGGCACTGAAGACTTTCTGTGGTCCAGCCTCTTCCCACGCCTCCAGCCATGCCCACCAAACTTAGACCCTGGTACTGGACTGTCCAGCCACACAAATCAACCACCAGCTGTTTCCAGAATCACTGAAGCAAATTCACACCTCAGAGCTTTGGAATAGTTAAGTGTCTGTCCTCAAATGTCCTTTCTTCTCAAGCAAACTTCTGTTTGCCTTTCAAATTCTATCTCAAGGTCAGGCGCTGCAGCACATGCCTGTAATCCCAGCATGTTGGGAGGTCAAGGTGGGAGAATCGCTTGAGCCTAGGAGCTCAAGACCAGCCTAGGCAACATAGTGAGGCTGATTCTTTACAAAAAAAATTAAAAATTTAGCAGCATGGTGGTGCATGTCTATAGTCCCAGCTACTCGGGACACTGAAGCAAGAGGATTGCTTGAACCTGGTAAGTCAAGGCTCCAGTGAGCTATGATAGCACCACTGCACTCCAGCCTGGGCAGCAGAGCAAGACCCTGCCTCTGAAAAAAAAATCCCATCTCAAGGACTTCTTTATTTTATTTTGTTTTTTAATTAAGACGGAGTTGGCTGGGCACGGTGGCTCACGCCTATAATCCCAGCACTCTGGGAGGCTGAGGGGTTGGATCACAAGGTCAGGAGTTCAAAACCAGCCTGGCCGATATGGTAAAACCCTGTCTCTACTAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGGGAATCACTTGAACTGGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTCTCACTCTTTCACCCAGGN
pathogenic
302,520
Variant in NPHS1 (NPHS1 adhesion molecule, nephrin), chromosome 19, position 35830889—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
AGAGTGCATATGGTCCAGCACCATGGACAGCGCTTTGCGCCATGCTGGTGAGGAGCTAGGATCTGACAACAGTCCCGGTATCGGAGGTCGTTCACAGAGACAGAAGGAAATCCTTGGCCCAGGAGGTGCCAGAGCATCAGCCAAGGCCACACAGGAAATCAGGGGTTCTGTCCCATCTCCCTAACTGTGCAGCAATGGGTGGGGATTGGCTGGTGGTCAAAGTGCCTGTCTGTTGTTTTTGCCTGTACAGCCACCATCCTCATTTCCCTGTGAGCTCTCTGTCCCTCTCCTACTCTCAGCCCAGTGACCTGAGTGGGGCTGGCCCCTACTCCCTGATCCCATGGTGAACTGGCCCAGGCCTCTCCTGTTAGCATATTCCATCCCCTGACTCAGGGATGTGTTCAGTGATGAGGATGTGACCCAAGCTAGACCAATTAAGTGTCAGCATTGGGCATTTGGGGCCACTGGAAAACAGGTATACTCTTTCTTTGAAGATTTCTAATCTCGTAGGATACAAATCTAGATTTTCTGGGAATATTTTTTCCCTTTCTTTTTTGAAACAGTCTCTCAGGCTGGAATGCAGTGGCACAATCAGGGCTCATGGCAGCCTCAACTTCCCTGGCTCAGGCATTCCTCCTACCTCAGCCTCCTGAGTAGCTGAGACCACAGGCATGCACCACCATGCCCAGTTAATTTTTTAAACTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCATCAGCCTCCCAAGTAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGCCGTGACCATGCCTAGCCATAAAAACATTTTTAGGGAAGAAATTCTGGGCCCAGCTGGGCCTGATGACAATTGTATGCCTTGATTTTTCAGTTGAATGGGCCCCCAAATTCTCTCTTTCTCTCTCTTTAACCAGTGGAGTAGATATGGCTAATTATCTTTAAAAATTCATGTCTACTTCCTTCCACAGTAGCAGAATTGCAGCAAGGCACATCACTGCTAAGCTAGACCACATTTCACAGCCTCCTTTGCCGTCAGATGTGACCATGTGACTCTCTTCCCACCAGGGGAGTGAGAGCAGAGTGGTGTGCACCATTTCTGGGCCTGGGCCACAAGGCAGGGTTGTGCCTCCTCCACATTCTTTCACCTTTTCCCATGGGTTGAACCCCCAGTGAACTGGCTCATTCATGTAGACTCGGTTGACTTGAGCAGGGCCACTCACGTCTGACTGAAAAAGAAATAGACTGCCTTCTTTTTTTCAGAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACCATCATGGCTCACCGCAGCCTCCAACTCCTGAGCTCAAGGGATCCTCCTGGCTCAGCCTCCTGAGTAGCTGAGACTACAGGTGCACACCTCCATGCCTGGCTCATTTTAAAAAATGTTTTGTAGAGACAAGTCACTATATTGCCCAGGCTCGTCTCAAACTTATGGGCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGGACCATCATGCCCAGCCGACTGTCTTTAAGCCACTGGATCATGGTCAGGCCTCTTTGTTACAGCAGCTAGCTGGCCCTAACTAATACAAGCAATAGGAGGTAGGCTCCCAGCACTAGCCAGGAAGGATGGTTGCTGATGCAAAGCTTCTCACCATCTGCACTTCATCGTAGAGGGGTCCCCAGGCTCCAGACGGGGGGTACGTTCTTTCTACCTCATCATACAAGTGCCCAGGGAAGGCCATATCCTCATCTTCACCTGTGAAACCTGGAGTTGGAGTGGAAGGGAGACACGATCAAGGCACCCAGTCCAGGCGTCGGGGGTACCTCTGAGTGAGGGAATCCTGACATGGTCCTAACTCACCTCGGGAATAAGACACCTCCTCCTGCGTCGGGGGCAGCTGGGGGCTGAAGTCCCTCAGGGAGCGGTAATACGGCTCTGCCTCTGTTGTGCTGACCTGTTCCCCACACGCAAAACAAACAAAGCCCTTTCCATCCTCTGACCCCACTGTGCCCGGAAGGGCAATGATCAACCTGATGCTAACGGCAGGGCTTCAGTCGCCGTCGGTGCCCTGATTGTGGGGTCACCAGGGCCACCCCCACTTACCGTGGAGCTCTGAGTGTCCCGCTCTCCTGTCCACTGGCTCTCCTCATATTCGTTCCTGACTCGGTCCTCTTCCGACCTTCCAGGATGAAGGTGTGGGGGGAAGTTGAGTGCTGCCCCCCGCCACCAGTCTCCCCCAAACCTCCCTCAGAGCCTTCTTTACAGAAAAATATCCCCACTTACCCTGCCTCTGTCTTCTCTGAGATGCCTGAAGGAAACAGGAATAAAGGGCTCAGTGACCCTATGCAAGCCCCCCACCCCGGCCCCAGGAAGACCTTCAGTATGCAGCAACCACAGGGTTCCCTATCACCCTCGGGTCTCCACCCTGGCAGGGAAGGGTCTCTCCTCACCCTCAGCAAGACGCCTGAGTCTCCGCTGCCAGAGGACCCCCCCGACACAGGAGGCATTGGAGAGGAGCAGAAGCCCCCCAAGAGCGAACAGCACAGGCAGCAGGGGCAGCCCCGAGGGTCCTAGGGGTGGAAGATACCCCTCAGTGAATCCCAGACAACAGGCTGTAGGCCAGGGGTGGGTCTCCCCGAGAAAGTGTAGCCCTGACCAAGTCCCTCCCCCAGGGTCAGAGAAACAGATGGGCAGAGGTCTCTGTGCCCACCCTTTCTGCCCACCCAAGGGCAGGTGGCTTCTTTCTTAAGTCAAGCCATTAGCAAAACTTCCTCCGTTTGCTTGAACTCTGCAAACTCAGAACGGAACTCTGGACTCAGGAGGGAGCTTCAGCTCGTTAGCTGGGCACTGAAGACTTTCTGTGGTCCAGCCTCTTCCCACGCCTCCAGCCATGCCCACCAAACTTAGACCCTGGTACTGGACTGTCCAGCCACACAAATCAACCACCAGCTGTTTCCAGAATCACTGAAGCAAATTCACACCTCAGAGCTTTGGAATAGTTAAGTGTCTGTCCTCAAATGTCCTTTCTTCTCAAGCAAACTTCTGTTTGCCTTTCAAATTCTATCTCAAGGTCAGGCGCTGCAGCACATGCCTGTAATCCCAGCATGTTGGGAGGTCAAGGTGGGAGAATCGCTTGAGCCTAGGAGCTCAAGACCAGCCTAGGCAACATAGTGAGGCTGATTCTTTACAAAAAAAATTAAAAATTTAGCAGCATGGTGGTGCATGTCTATAGTCCCAGCTACTCGGGACACTGAAGCAAGAGGATTGCTTGAACCTGGTAAGTCAAGGCTCCAGTGAGCTATGATAGCACCACTGCACTCCAGCCTGGGCAGCAGAGCAAGACCCTGCCTCTGAAAAAAAAATCCCATCTCAAGGACTTCTTTATTTTATTTTGTTTTTTAATTAAGACGGAGTTGGCTGGGCACGGTGGCTCACGCCTATAATCCCAGCACTCTGGGAGGCTGAGGGGTTGGATCACAAGGTCAGGAGTTCAAAACCAGCCTGGCCGATATGGTAAAACCCTGTCTCTACTAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGGGAATCACTTGAACTGGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTCTCACTCTTTCACCCAGGCTGGAG
AGAGTGCATATGGTCCAGCACCATGGACAGCGCTTTGCGCCATGCTGGTGAGGAGCTAGGATCTGACAACAGTCCCGGTATCGGAGGTCGTTCACAGAGACAGAAGGAAATCCTTGGCCCAGGAGGTGCCAGAGCATCAGCCAAGGCCACACAGGAAATCAGGGGTTCTGTCCCATCTCCCTAACTGTGCAGCAATGGGTGGGGATTGGCTGGTGGTCAAAGTGCCTGTCTGTTGTTTTTGCCTGTACAGCCACCATCCTCATTTCCCTGTGAGCTCTCTGTCCCTCTCCTACTCTCAGCCCAGTGACCTGAGTGGGGCTGGCCCCTACTCCCTGATCCCATGGTGAACTGGCCCAGGCCTCTCCTGTTAGCATATTCCATCCCCTGACTCAGGGATGTGTTCAGTGATGAGGATGTGACCCAAGCTAGACCAATTAAGTGTCAGCATTGGGCATTTGGGGCCACTGGAAAACAGGTATACTCTTTCTTTGAAGATTTCTAATCTCGTAGGATACAAATCTAGATTTTCTGGGAATATTTTTTCCCTTTCTTTTTTGAAACAGTCTCTCAGGCTGGAATGCAGTGGCACAATCAGGGCTCATGGCAGCCTCAACTTCCCTGGCTCAGGCATTCCTCCTACCTCAGCCTCCTGAGTAGCTGAGACCACAGGCATGCACCACCATGCCCAGTTAATTTTTTAAACTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCATCAGCCTCCCAAGTAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGCCGTGACCATGCCTAGCCATAAAAACATTTTTAGGGAAGAAATTCTGGGCCCAGCTGGGCCTGATGACAATTGTATGCCTTGATTTTTCAGTTGAATGGGCCCCCAAATTCTCTCTTTCTCTCTCTTTAACCAGTGGAGTAGATATGGCTAATTATCTTTAAAAATTCATGTCTACTTCCTTCCACAGTAGCAGAATTGCAGCAAGGCACATCACTGCTAAGCTAGACCACATTTCACAGCCTCCTTTGCCGTCAGATGTGACCATGTGACTCTCTTCCCACCAGGGGAGTGAGAGCAGAGTGGTGTGCACCATTTCTGGGCCTGGGCCACAAGGCAGGGTTGTGCCTCCTCCACATTCTTTCACCTTTTCCCATGGGTTGAACCCCCAGTGAACTGGCTCATTCATGTAGACTCGGTTGACTTGAGCAGGGCCACTCACGTCTGACTGAAAAAGAAATAGACTGCCTTCTTTTTTTCAGAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACCATCATGGCTCACCGCAGCCTCCAACTCCTGAGCTCAAGGGATCCTCCTGGCTCAGCCTCCTGAGTAGCTGAGACTACAGGTGCACACCTCCATGCCTGGCTCATTTTAAAAAATGTTTTGTAGAGACAAGTCACTATATTGCCCAGGCTCGTCTCAAACTTATGGGCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGGACCATCATGCCCAGCCGACTGTCTTTAAGCCACTGGATCATGGTCAGGCCTCTTTGTTACAGCAGCTAGCTGGCCCTAACTAATACAAGCAATAGGAGGTAGGCTCCCAGCACTAGCCAGGAAGGATGGTTGCTGATGCAAAGCTTCTCACCATCTGCACTTCATCGTAGAGGGGTCCCCAGGCTCCAGACGGGGGGTTACGTTCTTTCTACCTCATCATACAAGTGCCCAGGGAAGGCCATATCCTCATCTTCACCTGTGAAACCTGGAGTTGGAGTGGAAGGGAGACACGATCAAGGCACCCAGTCCAGGCGTCGGGGGTACCTCTGAGTGAGGGAATCCTGACATGGTCCTAACTCACCTCGGGAATAAGACACCTCCTCCTGCGTCGGGGGCAGCTGGGGGCTGAAGTCCCTCAGGGAGCGGTAATACGGCTCTGCCTCTGTTGTGCTGACCTGTTCCCCACACGCAAAACAAACAAAGCCCTTTCCATCCTCTGACCCCACTGTGCCCGGAAGGGCAATGATCAACCTGATGCTAACGGCAGGGCTTCAGTCGCCGTCGGTGCCCTGATTGTGGGGTCACCAGGGCCACCCCCACTTACCGTGGAGCTCTGAGTGTCCCGCTCTCCTGTCCACTGGCTCTCCTCATATTCGTTCCTGACTCGGTCCTCTTCCGACCTTCCAGGATGAAGGTGTGGGGGGAAGTTGAGTGCTGCCCCCCGCCACCAGTCTCCCCCAAACCTCCCTCAGAGCCTTCTTTACAGAAAAATATCCCCACTTACCCTGCCTCTGTCTTCTCTGAGATGCCTGAAGGAAACAGGAATAAAGGGCTCAGTGACCCTATGCAAGCCCCCCACCCCGGCCCCAGGAAGACCTTCAGTATGCAGCAACCACAGGGTTCCCTATCACCCTCGGGTCTCCACCCTGGCAGGGAAGGGTCTCTCCTCACCCTCAGCAAGACGCCTGAGTCTCCGCTGCCAGAGGACCCCCCCGACACAGGAGGCATTGGAGAGGAGCAGAAGCCCCCCAAGAGCGAACAGCACAGGCAGCAGGGGCAGCCCCGAGGGTCCTAGGGGTGGAAGATACCCCTCAGTGAATCCCAGACAACAGGCTGTAGGCCAGGGGTGGGTCTCCCCGAGAAAGTGTAGCCCTGACCAAGTCCCTCCCCCAGGGTCAGAGAAACAGATGGGCAGAGGTCTCTGTGCCCACCCTTTCTGCCCACCCAAGGGCAGGTGGCTTCTTTCTTAAGTCAAGCCATTAGCAAAACTTCCTCCGTTTGCTTGAACTCTGCAAACTCAGAACGGAACTCTGGACTCAGGAGGGAGCTTCAGCTCGTTAGCTGGGCACTGAAGACTTTCTGTGGTCCAGCCTCTTCCCACGCCTCCAGCCATGCCCACCAAACTTAGACCCTGGTACTGGACTGTCCAGCCACACAAATCAACCACCAGCTGTTTCCAGAATCACTGAAGCAAATTCACACCTCAGAGCTTTGGAATAGTTAAGTGTCTGTCCTCAAATGTCCTTTCTTCTCAAGCAAACTTCTGTTTGCCTTTCAAATTCTATCTCAAGGTCAGGCGCTGCAGCACATGCCTGTAATCCCAGCATGTTGGGAGGTCAAGGTGGGAGAATCGCTTGAGCCTAGGAGCTCAAGACCAGCCTAGGCAACATAGTGAGGCTGATTCTTTACAAAAAAAATTAAAAATTTAGCAGCATGGTGGTGCATGTCTATAGTCCCAGCTACTCGGGACACTGAAGCAAGAGGATTGCTTGAACCTGGTAAGTCAAGGCTCCAGTGAGCTATGATAGCACCACTGCACTCCAGCCTGGGCAGCAGAGCAAGACCCTGCCTCTGAAAAAAAAATCCCATCTCAAGGACTTCTTTATTTTATTTTGTTTTTTAATTAAGACGGAGTTGGCTGGGCACGGTGGCTCACGCCTATAATCCCAGCACTCTGGGAGGCTGAGGGGTTGGATCACAAGGTCAGGAGTTCAAAACCAGCCTGGCCGATATGGTAAAACCCTGTCTCTACTAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGGGAATCACTTGAACTGGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTCTCACTCTTTCACCCAGGCTGGA
pathogenic
302,521
Variant on chromosome 19, at position 35830913, affecting NPHS1 (NPHS1 adhesion molecule, nephrin): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
GGACAGCGCTTTGCGCCATGCTGGTGAGGAGCTAGGATCTGACAACAGTCCCGGTATCGGAGGTCGTTCACAGAGACAGAAGGAAATCCTTGGCCCAGGAGGTGCCAGAGCATCAGCCAAGGCCACACAGGAAATCAGGGGTTCTGTCCCATCTCCCTAACTGTGCAGCAATGGGTGGGGATTGGCTGGTGGTCAAAGTGCCTGTCTGTTGTTTTTGCCTGTACAGCCACCATCCTCATTTCCCTGTGAGCTCTCTGTCCCTCTCCTACTCTCAGCCCAGTGACCTGAGTGGGGCTGGCCCCTACTCCCTGATCCCATGGTGAACTGGCCCAGGCCTCTCCTGTTAGCATATTCCATCCCCTGACTCAGGGATGTGTTCAGTGATGAGGATGTGACCCAAGCTAGACCAATTAAGTGTCAGCATTGGGCATTTGGGGCCACTGGAAAACAGGTATACTCTTTCTTTGAAGATTTCTAATCTCGTAGGATACAAATCTAGATTTTCTGGGAATATTTTTTCCCTTTCTTTTTTGAAACAGTCTCTCAGGCTGGAATGCAGTGGCACAATCAGGGCTCATGGCAGCCTCAACTTCCCTGGCTCAGGCATTCCTCCTACCTCAGCCTCCTGAGTAGCTGAGACCACAGGCATGCACCACCATGCCCAGTTAATTTTTTAAACTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCATCAGCCTCCCAAGTAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGCCGTGACCATGCCTAGCCATAAAAACATTTTTAGGGAAGAAATTCTGGGCCCAGCTGGGCCTGATGACAATTGTATGCCTTGATTTTTCAGTTGAATGGGCCCCCAAATTCTCTCTTTCTCTCTCTTTAACCAGTGGAGTAGATATGGCTAATTATCTTTAAAAATTCATGTCTACTTCCTTCCACAGTAGCAGAATTGCAGCAAGGCACATCACTGCTAAGCTAGACCACATTTCACAGCCTCCTTTGCCGTCAGATGTGACCATGTGACTCTCTTCCCACCAGGGGAGTGAGAGCAGAGTGGTGTGCACCATTTCTGGGCCTGGGCCACAAGGCAGGGTTGTGCCTCCTCCACATTCTTTCACCTTTTCCCATGGGTTGAACCCCCAGTGAACTGGCTCATTCATGTAGACTCGGTTGACTTGAGCAGGGCCACTCACGTCTGACTGAAAAAGAAATAGACTGCCTTCTTTTTTTCAGAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACCATCATGGCTCACCGCAGCCTCCAACTCCTGAGCTCAAGGGATCCTCCTGGCTCAGCCTCCTGAGTAGCTGAGACTACAGGTGCACACCTCCATGCCTGGCTCATTTTAAAAAATGTTTTGTAGAGACAAGTCACTATATTGCCCAGGCTCGTCTCAAACTTATGGGCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGGACCATCATGCCCAGCCGACTGTCTTTAAGCCACTGGATCATGGTCAGGCCTCTTTGTTACAGCAGCTAGCTGGCCCTAACTAATACAAGCAATAGGAGGTAGGCTCCCAGCACTAGCCAGGAAGGATGGTTGCTGATGCAAAGCTTCTCACCATCTGCACTTCATCGTAGAGGGGTCCCCAGGCTCCAGACGGGGGGTACGTTCTTTCTACCTCATCATACAAGTGCCCAGGGAAGGCCATATCCTCATCTTCACCTGTGAAACCTGGAGTTGGAGTGGAAGGGAGACACGATCAAGGCACCCAGTCCAGGCGTCGGGGGTACCTCTGAGTGAGGGAATCCTGACATGGTCCTAACTCACCTCGGGAATAAGACACCTCCTCCTGCGTCGGGGGCAGCTGGGGGCTGAAGTCCCTCAGGGAGCGGTAATACGGCTCTGCCTCTGTTGTGCTGACCTGTTCCCCACACGCAAAACAAACAAAGCCCTTTCCATCCTCTGACCCCACTGTGCCCGGAAGGGCAATGATCAACCTGATGCTAACGGCAGGGCTTCAGTCGCCGTCGGTGCCCTGATTGTGGGGTCACCAGGGCCACCCCCACTTACCGTGGAGCTCTGAGTGTCCCGCTCTCCTGTCCACTGGCTCTCCTCATATTCGTTCCTGACTCGGTCCTCTTCCGACCTTCCAGGATGAAGGTGTGGGGGGAAGTTGAGTGCTGCCCCCCGCCACCAGTCTCCCCCAAACCTCCCTCAGAGCCTTCTTTACAGAAAAATATCCCCACTTACCCTGCCTCTGTCTTCTCTGAGATGCCTGAAGGAAACAGGAATAAAGGGCTCAGTGACCCTATGCAAGCCCCCCACCCCGGCCCCAGGAAGACCTTCAGTATGCAGCAACCACAGGGTTCCCTATCACCCTCGGGTCTCCACCCTGGCAGGGAAGGGTCTCTCCTCACCCTCAGCAAGACGCCTGAGTCTCCGCTGCCAGAGGACCCCCCCGACACAGGAGGCATTGGAGAGGAGCAGAAGCCCCCCAAGAGCGAACAGCACAGGCAGCAGGGGCAGCCCCGAGGGTCCTAGGGGTGGAAGATACCCCTCAGTGAATCCCAGACAACAGGCTGTAGGCCAGGGGTGGGTCTCCCCGAGAAAGTGTAGCCCTGACCAAGTCCCTCCCCCAGGGTCAGAGAAACAGATGGGCAGAGGTCTCTGTGCCCACCCTTTCTGCCCACCCAAGGGCAGGTGGCTTCTTTCTTAAGTCAAGCCATTAGCAAAACTTCCTCCGTTTGCTTGAACTCTGCAAACTCAGAACGGAACTCTGGACTCAGGAGGGAGCTTCAGCTCGTTAGCTGGGCACTGAAGACTTTCTGTGGTCCAGCCTCTTCCCACGCCTCCAGCCATGCCCACCAAACTTAGACCCTGGTACTGGACTGTCCAGCCACACAAATCAACCACCAGCTGTTTCCAGAATCACTGAAGCAAATTCACACCTCAGAGCTTTGGAATAGTTAAGTGTCTGTCCTCAAATGTCCTTTCTTCTCAAGCAAACTTCTGTTTGCCTTTCAAATTCTATCTCAAGGTCAGGCGCTGCAGCACATGCCTGTAATCCCAGCATGTTGGGAGGTCAAGGTGGGAGAATCGCTTGAGCCTAGGAGCTCAAGACCAGCCTAGGCAACATAGTGAGGCTGATTCTTTACAAAAAAAATTAAAAATTTAGCAGCATGGTGGTGCATGTCTATAGTCCCAGCTACTCGGGACACTGAAGCAAGAGGATTGCTTGAACCTGGTAAGTCAAGGCTCCAGTGAGCTATGATAGCACCACTGCACTCCAGCCTGGGCAGCAGAGCAAGACCCTGCCTCTGAAAAAAAAATCCCATCTCAAGGACTTCTTTATTTTATTTTGTTTTTTAATTAAGACGGAGTTGGCTGGGCACGGTGGCTCACGCCTATAATCCCAGCACTCTGGGAGGCTGAGGGGTTGGATCACAAGGTCAGGAGTTCAAAACCAGCCTGGCCGATATGGTAAAACCCTGTCTCTACTAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGGGAATCACTTGAACTGGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCAC
GGACAGCGCTTTGCGCCATGCTGGTGAGGAGCTAGGATCTGACAACAGTCCCGGTATCGGAGGTCGTTCACAGAGACAGAAGGAAATCCTTGGCCCAGGAGGTGCCAGAGCATCAGCCAAGGCCACACAGGAAATCAGGGGTTCTGTCCCATCTCCCTAACTGTGCAGCAATGGGTGGGGATTGGCTGGTGGTCAAAGTGCCTGTCTGTTGTTTTTGCCTGTACAGCCACCATCCTCATTTCCCTGTGAGCTCTCTGTCCCTCTCCTACTCTCAGCCCAGTGACCTGAGTGGGGCTGGCCCCTACTCCCTGATCCCATGGTGAACTGGCCCAGGCCTCTCCTGTTAGCATATTCCATCCCCTGACTCAGGGATGTGTTCAGTGATGAGGATGTGACCCAAGCTAGACCAATTAAGTGTCAGCATTGGGCATTTGGGGCCACTGGAAAACAGGTATACTCTTTCTTTGAAGATTTCTAATCTCGTAGGATACAAATCTAGATTTTCTGGGAATATTTTTTCCCTTTCTTTTTTGAAACAGTCTCTCAGGCTGGAATGCAGTGGCACAATCAGGGCTCATGGCAGCCTCAACTTCCCTGGCTCAGGCATTCCTCCTACCTCAGCCTCCTGAGTAGCTGAGACCACAGGCATGCACCACCATGCCCAGTTAATTTTTTAAACTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCATCAGCCTCCCAAGTAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGCCGTGACCATGCCTAGCCATAAAAACATTTTTAGGGAAGAAATTCTGGGCCCAGCTGGGCCTGATGACAATTGTATGCCTTGATTTTTCAGTTGAATGGGCCCCCAAATTCTCTCTTTCTCTCTCTTTAACCAGTGGAGTAGATATGGCTAATTATCTTTAAAAATTCATGTCTACTTCCTTCCACAGTAGCAGAATTGCAGCAAGGCACATCACTGCTAAGCTAGACCACATTTCACAGCCTCCTTTGCCGTCAGATGTGACCATGTGACTCTCTTCCCACCAGGGGAGTGAGAGCAGAGTGGTGTGCACCATTTCTGGGCCTGGGCCACAAGGCAGGGTTGTGCCTCCTCCACATTCTTTCACCTTTTCCCATGGGTTGAACCCCCAGTGAACTGGCTCATTCATGTAGACTCGGTTGACTTGAGCAGGGCCACTCACGTCTGACTGAAAAAGAAATAGACTGCCTTCTTTTTTTCAGAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACCATCATGGCTCACCGCAGCCTCCAACTCCTGAGCTCAAGGGATCCTCCTGGCTCAGCCTCCTGAGTAGCTGAGACTACAGGTGCACACCTCCATGCCTGGCTCATTTTAAAAAATGTTTTGTAGAGACAAGTCACTATATTGCCCAGGCTCGTCTCAAACTTATGGGCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGGACCATCATGCCCAGCCGACTGTCTTTAAGCCACTGGATCATGGTCAGGCCTCTTTGTTACAGCAGCTAGCTGGCCCTAACTAATACAAGCAATAGGAGGTAGGCTCCCAGCACTAGCCAGGAAGGATGGTTGCTGATGCAAAGCTTCTCACCATCTGCACTTCATCGTAGAGGGGTCCCCAGGCTCCAGACGGGGGGTACGTTCTTTCTACCTCATCATACGTGCCCAGGGAAGGCCATATCCTCATCTTCACCTGTGAAACCTGGAGTTGGAGTGGAAGGGAGACACGATCAAGGCACCCAGTCCAGGCGTCGGGGGTACCTCTGAGTGAGGGAATCCTGACATGGTCCTAACTCACCTCGGGAATAAGACACCTCCTCCTGCGTCGGGGGCAGCTGGGGGCTGAAGTCCCTCAGGGAGCGGTAATACGGCTCTGCCTCTGTTGTGCTGACCTGTTCCCCACACGCAAAACAAACAAAGCCCTTTCCATCCTCTGACCCCACTGTGCCCGGAAGGGCAATGATCAACCTGATGCTAACGGCAGGGCTTCAGTCGCCGTCGGTGCCCTGATTGTGGGGTCACCAGGGCCACCCCCACTTACCGTGGAGCTCTGAGTGTCCCGCTCTCCTGTCCACTGGCTCTCCTCATATTCGTTCCTGACTCGGTCCTCTTCCGACCTTCCAGGATGAAGGTGTGGGGGGAAGTTGAGTGCTGCCCCCCGCCACCAGTCTCCCCCAAACCTCCCTCAGAGCCTTCTTTACAGAAAAATATCCCCACTTACCCTGCCTCTGTCTTCTCTGAGATGCCTGAAGGAAACAGGAATAAAGGGCTCAGTGACCCTATGCAAGCCCCCCACCCCGGCCCCAGGAAGACCTTCAGTATGCAGCAACCACAGGGTTCCCTATCACCCTCGGGTCTCCACCCTGGCAGGGAAGGGTCTCTCCTCACCCTCAGCAAGACGCCTGAGTCTCCGCTGCCAGAGGACCCCCCCGACACAGGAGGCATTGGAGAGGAGCAGAAGCCCCCCAAGAGCGAACAGCACAGGCAGCAGGGGCAGCCCCGAGGGTCCTAGGGGTGGAAGATACCCCTCAGTGAATCCCAGACAACAGGCTGTAGGCCAGGGGTGGGTCTCCCCGAGAAAGTGTAGCCCTGACCAAGTCCCTCCCCCAGGGTCAGAGAAACAGATGGGCAGAGGTCTCTGTGCCCACCCTTTCTGCCCACCCAAGGGCAGGTGGCTTCTTTCTTAAGTCAAGCCATTAGCAAAACTTCCTCCGTTTGCTTGAACTCTGCAAACTCAGAACGGAACTCTGGACTCAGGAGGGAGCTTCAGCTCGTTAGCTGGGCACTGAAGACTTTCTGTGGTCCAGCCTCTTCCCACGCCTCCAGCCATGCCCACCAAACTTAGACCCTGGTACTGGACTGTCCAGCCACACAAATCAACCACCAGCTGTTTCCAGAATCACTGAAGCAAATTCACACCTCAGAGCTTTGGAATAGTTAAGTGTCTGTCCTCAAATGTCCTTTCTTCTCAAGCAAACTTCTGTTTGCCTTTCAAATTCTATCTCAAGGTCAGGCGCTGCAGCACATGCCTGTAATCCCAGCATGTTGGGAGGTCAAGGTGGGAGAATCGCTTGAGCCTAGGAGCTCAAGACCAGCCTAGGCAACATAGTGAGGCTGATTCTTTACAAAAAAAATTAAAAATTTAGCAGCATGGTGGTGCATGTCTATAGTCCCAGCTACTCGGGACACTGAAGCAAGAGGATTGCTTGAACCTGGTAAGTCAAGGCTCCAGTGAGCTATGATAGCACCACTGCACTCCAGCCTGGGCAGCAGAGCAAGACCCTGCCTCTGAAAAAAAAATCCCATCTCAAGGACTTCTTTATTTTATTTTGTTTTTTAATTAAGACGGAGTTGGCTGGGCACGGTGGCTCACGCCTATAATCCCAGCACTCTGGGAGGCTGAGGGGTTGGATCACAAGGTCAGGAGTTCAAAACCAGCCTGGCCGATATGGTAAAACCCTGTCTCTACTAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGGGAATCACTTGAACTGGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACNN
pathogenic
302,524
Variant on chromosome 19, at position 35831347, affecting NPHS1 (NPHS1 adhesion molecule, nephrin): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
GGGCCACTGGAAAACAGGTATACTCTTTCTTTGAAGATTTCTAATCTCGTAGGATACAAATCTAGATTTTCTGGGAATATTTTTTCCCTTTCTTTTTTGAAACAGTCTCTCAGGCTGGAATGCAGTGGCACAATCAGGGCTCATGGCAGCCTCAACTTCCCTGGCTCAGGCATTCCTCCTACCTCAGCCTCCTGAGTAGCTGAGACCACAGGCATGCACCACCATGCCCAGTTAATTTTTTAAACTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCATCAGCCTCCCAAGTAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGCCGTGACCATGCCTAGCCATAAAAACATTTTTAGGGAAGAAATTCTGGGCCCAGCTGGGCCTGATGACAATTGTATGCCTTGATTTTTCAGTTGAATGGGCCCCCAAATTCTCTCTTTCTCTCTCTTTAACCAGTGGAGTAGATATGGCTAATTATCTTTAAAAATTCATGTCTACTTCCTTCCACAGTAGCAGAATTGCAGCAAGGCACATCACTGCTAAGCTAGACCACATTTCACAGCCTCCTTTGCCGTCAGATGTGACCATGTGACTCTCTTCCCACCAGGGGAGTGAGAGCAGAGTGGTGTGCACCATTTCTGGGCCTGGGCCACAAGGCAGGGTTGTGCCTCCTCCACATTCTTTCACCTTTTCCCATGGGTTGAACCCCCAGTGAACTGGCTCATTCATGTAGACTCGGTTGACTTGAGCAGGGCCACTCACGTCTGACTGAAAAAGAAATAGACTGCCTTCTTTTTTTCAGAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACCATCATGGCTCACCGCAGCCTCCAACTCCTGAGCTCAAGGGATCCTCCTGGCTCAGCCTCCTGAGTAGCTGAGACTACAGGTGCACACCTCCATGCCTGGCTCATTTTAAAAAATGTTTTGTAGAGACAAGTCACTATATTGCCCAGGCTCGTCTCAAACTTATGGGCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGGACCATCATGCCCAGCCGACTGTCTTTAAGCCACTGGATCATGGTCAGGCCTCTTTGTTACAGCAGCTAGCTGGCCCTAACTAATACAAGCAATAGGAGGTAGGCTCCCAGCACTAGCCAGGAAGGATGGTTGCTGATGCAAAGCTTCTCACCATCTGCACTTCATCGTAGAGGGGTCCCCAGGCTCCAGACGGGGGGTACGTTCTTTCTACCTCATCATACAAGTGCCCAGGGAAGGCCATATCCTCATCTTCACCTGTGAAACCTGGAGTTGGAGTGGAAGGGAGACACGATCAAGGCACCCAGTCCAGGCGTCGGGGGTACCTCTGAGTGAGGGAATCCTGACATGGTCCTAACTCACCTCGGGAATAAGACACCTCCTCCTGCGTCGGGGGCAGCTGGGGGCTGAAGTCCCTCAGGGAGCGGTAATACGGCTCTGCCTCTGTTGTGCTGACCTGTTCCCCACACGCAAAACAAACAAAGCCCTTTCCATCCTCTGACCCCACTGTGCCCGGAAGGGCAATGATCAACCTGATGCTAACGGCAGGGCTTCAGTCGCCGTCGGTGCCCTGATTGTGGGGTCACCAGGGCCACCCCCACTTACCGTGGAGCTCTGAGTGTCCCGCTCTCCTGTCCACTGGCTCTCCTCATATTCGTTCCTGACTCGGTCCTCTTCCGACCTTCCAGGATGAAGGTGTGGGGGGAAGTTGAGTGCTGCCCCCCGCCACCAGTCTCCCCCAAACCTCCCTCAGAGCCTTCTTTACAGAAAAATATCCCCACTTACCCTGCCTCTGTCTTCTCTGAGATGCCTGAAGGAAACAGGAATAAAGGGCTCAGTGACCCTATGCAAGCCCCCCACCCCGGCCCCAGGAAGACCTTCAGTATGCAGCAACCACAGGGTTCCCTATCACCCTCGGGTCTCCACCCTGGCAGGGAAGGGTCTCTCCTCACCCTCAGCAAGACGCCTGAGTCTCCGCTGCCAGAGGACCCCCCCGACACAGGAGGCATTGGAGAGGAGCAGAAGCCCCCCAAGAGCGAACAGCACAGGCAGCAGGGGCAGCCCCGAGGGTCCTAGGGGTGGAAGATACCCCTCAGTGAATCCCAGACAACAGGCTGTAGGCCAGGGGTGGGTCTCCCCGAGAAAGTGTAGCCCTGACCAAGTCCCTCCCCCAGGGTCAGAGAAACAGATGGGCAGAGGTCTCTGTGCCCACCCTTTCTGCCCACCCAAGGGCAGGTGGCTTCTTTCTTAAGTCAAGCCATTAGCAAAACTTCCTCCGTTTGCTTGAACTCTGCAAACTCAGAACGGAACTCTGGACTCAGGAGGGAGCTTCAGCTCGTTAGCTGGGCACTGAAGACTTTCTGTGGTCCAGCCTCTTCCCACGCCTCCAGCCATGCCCACCAAACTTAGACCCTGGTACTGGACTGTCCAGCCACACAAATCAACCACCAGCTGTTTCCAGAATCACTGAAGCAAATTCACACCTCAGAGCTTTGGAATAGTTAAGTGTCTGTCCTCAAATGTCCTTTCTTCTCAAGCAAACTTCTGTTTGCCTTTCAAATTCTATCTCAAGGTCAGGCGCTGCAGCACATGCCTGTAATCCCAGCATGTTGGGAGGTCAAGGTGGGAGAATCGCTTGAGCCTAGGAGCTCAAGACCAGCCTAGGCAACATAGTGAGGCTGATTCTTTACAAAAAAAATTAAAAATTTAGCAGCATGGTGGTGCATGTCTATAGTCCCAGCTACTCGGGACACTGAAGCAAGAGGATTGCTTGAACCTGGTAAGTCAAGGCTCCAGTGAGCTATGATAGCACCACTGCACTCCAGCCTGGGCAGCAGAGCAAGACCCTGCCTCTGAAAAAAAAATCCCATCTCAAGGACTTCTTTATTTTATTTTGTTTTTTAATTAAGACGGAGTTGGCTGGGCACGGTGGCTCACGCCTATAATCCCAGCACTCTGGGAGGCTGAGGGGTTGGATCACAAGGTCAGGAGTTCAAAACCAGCCTGGCCGATATGGTAAAACCCTGTCTCTACTAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGGGAATCACTTGAACTGGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTGCAGGGTTCAAGCGATTCTTCTCCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACACCCGGCTAATTTTTTTTTTTTTTGTATTTTTAATAGAGACGGAGTTTCGCCATGTTGGACAGGCTGTTCTTGAACTCCTGGCTTCAAGTGGTCTGCCCACCTTGGCGTCCCAAAGTGCTGGCATTATAGGCGCGAGCCACCGTGCCCAGCCTCAAATGACTTCTTTCCACCAACTTCCATCCCAGCCAATATCAGGCTGACTTGGCTGCTATATCCCTGAGGACAAGGCTGAACCCCTCTAAGTAGGCATCTGTTGGGCGGGCAATCTCCCCTGTCTTCTACTAATAGCACTTTTTTCCCCTGGGGAGAACAGCCACTCCCCAATCTCAGTCTTGGGTTCAGGCAGGACTCC
GGGCCACTGGAAAACAGGTATACTCTTTCTTTGAAGATTTCTAATCTCGTAGGATACAAATCTAGATTTTCTGGGAATATTTTTTCCCTTTCTTTTTTGAAACAGTCTCTCAGGCTGGAATGCAGTGGCACAATCAGGGCTCATGGCAGCCTCAACTTCCCTGGCTCAGGCATTCCTCCTACCTCAGCCTCCTGAGTAGCTGAGACCACAGGCATGCACCACCATGCCCAGTTAATTTTTTAAACTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCATCAGCCTCCCAAGTAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGCCGTGACCATGCCTAGCCATAAAAACATTTTTAGGGAAGAAATTCTGGGCCCAGCTGGGCCTGATGACAATTGTATGCCTTGATTTTTCAGTTGAATGGGCCCCCAAATTCTCTCTTTCTCTCTCTTTAACCAGTGGAGTAGATATGGCTAATTATCTTTAAAAATTCATGTCTACTTCCTTCCACAGTAGCAGAATTGCAGCAAGGCACATCACTGCTAAGCTAGACCACATTTCACAGCCTCCTTTGCCGTCAGATGTGACCATGTGACTCTCTTCCCACCAGGGGAGTGAGAGCAGAGTGGTGTGCACCATTTCTGGGCCTGGGCCACAAGGCAGGGTTGTGCCTCCTCCACATTCTTTCACCTTTTCCCATGGGTTGAACCCCCAGTGAACTGGCTCATTCATGTAGACTCGGTTGACTTGAGCAGGGCCACTCACGTCTGACTGAAAAAGAAATAGACTGCCTTCTTTTTTTCAGAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACCATCATGGCTCACCGCAGCCTCCAACTCCTGAGCTCAAGGGATCCTCCTGGCTCAGCCTCCTGAGTAGCTGAGACTACAGGTGCACACCTCCATGCCTGGCTCATTTTAAAAAATGTTTTGTAGAGACAAGTCACTATATTGCCCAGGCTCGTCTCAAACTTATGGGCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGGACCATCATGCCCAGCCGACTGTCTTTAAGCCACTGGATCATGGTCAGGCCTCTTTGTTACAGCAGCTAGCTGGCCCTAACTAATACAAGCAATAGGAGGTAGGCTCCCAGCACTAGCCAGGAAGGATGGTTGCTGATGCAAAGCTTCTCACCATCTGCACTTCATCGTAGAGGGGTCCCCAGGCTCCAGACGGGGGGTACGTTCTTTCTACCTCATCATACAAGTGCCCAGGGAAGGCCATATCCTCATCTTCACCTGTGAAACCTGGAGTTGGAGTGGAAGGGAGACACGATCAAGGCACCCAGTCCAGGCGTCGGGGGTACCTCTGAGTGAGGGAATCCTGACATGGTCCTAACTCACCTCGGGAATAAGACACCTCCTCCTGCGTCGGGGGCAGCTGGGGGCTGAAGTCCCTCAGGGAGCGGTAATACGGCTCTGCCTCTGTTGTGCTGACCTGTTCCCCACACGCAAAACAAACAAAGCCCTTTCCATCCTCTGACCCCACTGTGCCCGGAAGGGCAATGATCAACCTGATGCTAACGGCAGGGCTTCAGTCGCCGTCGGTGCCCTGATTGTGGGGTCACCAGGGCCACCCCCACTTACCGTGGAGCTCTGAGTGTCCCGCTCTCCTGTCCACTGGCTCTCCTCATATTCGTCCTGACTCGGTCCTCTTCCGACCTTCCAGGATGAAGGTGTGGGGGGAAGTTGAGTGCTGCCCCCCGCCACCAGTCTCCCCCAAACCTCCCTCAGAGCCTTCTTTACAGAAAAATATCCCCACTTACCCTGCCTCTGTCTTCTCTGAGATGCCTGAAGGAAACAGGAATAAAGGGCTCAGTGACCCTATGCAAGCCCCCCACCCCGGCCCCAGGAAGACCTTCAGTATGCAGCAACCACAGGGTTCCCTATCACCCTCGGGTCTCCACCCTGGCAGGGAAGGGTCTCTCCTCACCCTCAGCAAGACGCCTGAGTCTCCGCTGCCAGAGGACCCCCCCGACACAGGAGGCATTGGAGAGGAGCAGAAGCCCCCCAAGAGCGAACAGCACAGGCAGCAGGGGCAGCCCCGAGGGTCCTAGGGGTGGAAGATACCCCTCAGTGAATCCCAGACAACAGGCTGTAGGCCAGGGGTGGGTCTCCCCGAGAAAGTGTAGCCCTGACCAAGTCCCTCCCCCAGGGTCAGAGAAACAGATGGGCAGAGGTCTCTGTGCCCACCCTTTCTGCCCACCCAAGGGCAGGTGGCTTCTTTCTTAAGTCAAGCCATTAGCAAAACTTCCTCCGTTTGCTTGAACTCTGCAAACTCAGAACGGAACTCTGGACTCAGGAGGGAGCTTCAGCTCGTTAGCTGGGCACTGAAGACTTTCTGTGGTCCAGCCTCTTCCCACGCCTCCAGCCATGCCCACCAAACTTAGACCCTGGTACTGGACTGTCCAGCCACACAAATCAACCACCAGCTGTTTCCAGAATCACTGAAGCAAATTCACACCTCAGAGCTTTGGAATAGTTAAGTGTCTGTCCTCAAATGTCCTTTCTTCTCAAGCAAACTTCTGTTTGCCTTTCAAATTCTATCTCAAGGTCAGGCGCTGCAGCACATGCCTGTAATCCCAGCATGTTGGGAGGTCAAGGTGGGAGAATCGCTTGAGCCTAGGAGCTCAAGACCAGCCTAGGCAACATAGTGAGGCTGATTCTTTACAAAAAAAATTAAAAATTTAGCAGCATGGTGGTGCATGTCTATAGTCCCAGCTACTCGGGACACTGAAGCAAGAGGATTGCTTGAACCTGGTAAGTCAAGGCTCCAGTGAGCTATGATAGCACCACTGCACTCCAGCCTGGGCAGCAGAGCAAGACCCTGCCTCTGAAAAAAAAATCCCATCTCAAGGACTTCTTTATTTTATTTTGTTTTTTAATTAAGACGGAGTTGGCTGGGCACGGTGGCTCACGCCTATAATCCCAGCACTCTGGGAGGCTGAGGGGTTGGATCACAAGGTCAGGAGTTCAAAACCAGCCTGGCCGATATGGTAAAACCCTGTCTCTACTAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGGGAATCACTTGAACTGGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTGCAGGGTTCAAGCGATTCTTCTCCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACACCCGGCTAATTTTTTTTTTTTTTGTATTTTTAATAGAGACGGAGTTTCGCCATGTTGGACAGGCTGTTCTTGAACTCCTGGCTTCAAGTGGTCTGCCCACCTTGGCGTCCCAAAGTGCTGGCATTATAGGCGCGAGCCACCGTGCCCAGCCTCAAATGACTTCTTTCCACCAACTTCCATCCCAGCCAATATCAGGCTGACTTGGCTGCTATATCCCTGAGGACAAGGCTGAACCCCTCTAAGTAGGCATCTGTTGGGCGGGCAATCTCCCCTGTCTTCTACTAATAGCACTTTTTTCCCCTGGGGAGAACAGCCACTCCCCAATCTCAGTCTTGGGTTCAGGCAGGACTCCN
pathogenic
302,535
The genetic variant at chromosome 19, position 35831678, affecting gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Finnish_congenital_nephrotic_syndrome', 'Nephrotic_syndrome']
CTGGGTTCAAGCGATTCTCCTGCATCAGCCTCCCAAGTAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGCCGTGACCATGCCTAGCCATAAAAACATTTTTAGGGAAGAAATTCTGGGCCCAGCTGGGCCTGATGACAATTGTATGCCTTGATTTTTCAGTTGAATGGGCCCCCAAATTCTCTCTTTCTCTCTCTTTAACCAGTGGAGTAGATATGGCTAATTATCTTTAAAAATTCATGTCTACTTCCTTCCACAGTAGCAGAATTGCAGCAAGGCACATCACTGCTAAGCTAGACCACATTTCACAGCCTCCTTTGCCGTCAGATGTGACCATGTGACTCTCTTCCCACCAGGGGAGTGAGAGCAGAGTGGTGTGCACCATTTCTGGGCCTGGGCCACAAGGCAGGGTTGTGCCTCCTCCACATTCTTTCACCTTTTCCCATGGGTTGAACCCCCAGTGAACTGGCTCATTCATGTAGACTCGGTTGACTTGAGCAGGGCCACTCACGTCTGACTGAAAAAGAAATAGACTGCCTTCTTTTTTTCAGAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACCATCATGGCTCACCGCAGCCTCCAACTCCTGAGCTCAAGGGATCCTCCTGGCTCAGCCTCCTGAGTAGCTGAGACTACAGGTGCACACCTCCATGCCTGGCTCATTTTAAAAAATGTTTTGTAGAGACAAGTCACTATATTGCCCAGGCTCGTCTCAAACTTATGGGCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGGACCATCATGCCCAGCCGACTGTCTTTAAGCCACTGGATCATGGTCAGGCCTCTTTGTTACAGCAGCTAGCTGGCCCTAACTAATACAAGCAATAGGAGGTAGGCTCCCAGCACTAGCCAGGAAGGATGGTTGCTGATGCAAAGCTTCTCACCATCTGCACTTCATCGTAGAGGGGTCCCCAGGCTCCAGACGGGGGGTACGTTCTTTCTACCTCATCATACAAGTGCCCAGGGAAGGCCATATCCTCATCTTCACCTGTGAAACCTGGAGTTGGAGTGGAAGGGAGACACGATCAAGGCACCCAGTCCAGGCGTCGGGGGTACCTCTGAGTGAGGGAATCCTGACATGGTCCTAACTCACCTCGGGAATAAGACACCTCCTCCTGCGTCGGGGGCAGCTGGGGGCTGAAGTCCCTCAGGGAGCGGTAATACGGCTCTGCCTCTGTTGTGCTGACCTGTTCCCCACACGCAAAACAAACAAAGCCCTTTCCATCCTCTGACCCCACTGTGCCCGGAAGGGCAATGATCAACCTGATGCTAACGGCAGGGCTTCAGTCGCCGTCGGTGCCCTGATTGTGGGGTCACCAGGGCCACCCCCACTTACCGTGGAGCTCTGAGTGTCCCGCTCTCCTGTCCACTGGCTCTCCTCATATTCGTTCCTGACTCGGTCCTCTTCCGACCTTCCAGGATGAAGGTGTGGGGGGAAGTTGAGTGCTGCCCCCCGCCACCAGTCTCCCCCAAACCTCCCTCAGAGCCTTCTTTACAGAAAAATATCCCCACTTACCCTGCCTCTGTCTTCTCTGAGATGCCTGAAGGAAACAGGAATAAAGGGCTCAGTGACCCTATGCAAGCCCCCCACCCCGGCCCCAGGAAGACCTTCAGTATGCAGCAACCACAGGGTTCCCTATCACCCTCGGGTCTCCACCCTGGCAGGGAAGGGTCTCTCCTCACCCTCAGCAAGACGCCTGAGTCTCCGCTGCCAGAGGACCCCCCCGACACAGGAGGCATTGGAGAGGAGCAGAAGCCCCCCAAGAGCGAACAGCACAGGCAGCAGGGGCAGCCCCGAGGGTCCTAGGGGTGGAAGATACCCCTCAGTGAATCCCAGACAACAGGCTGTAGGCCAGGGGTGGGTCTCCCCGAGAAAGTGTAGCCCTGACCAAGTCCCTCCCCCAGGGTCAGAGAAACAGATGGGCAGAGGTCTCTGTGCCCACCCTTTCTGCCCACCCAAGGGCAGGTGGCTTCTTTCTTAAGTCAAGCCATTAGCAAAACTTCCTCCGTTTGCTTGAACTCTGCAAACTCAGAACGGAACTCTGGACTCAGGAGGGAGCTTCAGCTCGTTAGCTGGGCACTGAAGACTTTCTGTGGTCCAGCCTCTTCCCACGCCTCCAGCCATGCCCACCAAACTTAGACCCTGGTACTGGACTGTCCAGCCACACAAATCAACCACCAGCTGTTTCCAGAATCACTGAAGCAAATTCACACCTCAGAGCTTTGGAATAGTTAAGTGTCTGTCCTCAAATGTCCTTTCTTCTCAAGCAAACTTCTGTTTGCCTTTCAAATTCTATCTCAAGGTCAGGCGCTGCAGCACATGCCTGTAATCCCAGCATGTTGGGAGGTCAAGGTGGGAGAATCGCTTGAGCCTAGGAGCTCAAGACCAGCCTAGGCAACATAGTGAGGCTGATTCTTTACAAAAAAAATTAAAAATTTAGCAGCATGGTGGTGCATGTCTATAGTCCCAGCTACTCGGGACACTGAAGCAAGAGGATTGCTTGAACCTGGTAAGTCAAGGCTCCAGTGAGCTATGATAGCACCACTGCACTCCAGCCTGGGCAGCAGAGCAAGACCCTGCCTCTGAAAAAAAAATCCCATCTCAAGGACTTCTTTATTTTATTTTGTTTTTTAATTAAGACGGAGTTGGCTGGGCACGGTGGCTCACGCCTATAATCCCAGCACTCTGGGAGGCTGAGGGGTTGGATCACAAGGTCAGGAGTTCAAAACCAGCCTGGCCGATATGGTAAAACCCTGTCTCTACTAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGGGAATCACTTGAACTGGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTGCAGGGTTCAAGCGATTCTTCTCCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACACCCGGCTAATTTTTTTTTTTTTTGTATTTTTAATAGAGACGGAGTTTCGCCATGTTGGACAGGCTGTTCTTGAACTCCTGGCTTCAAGTGGTCTGCCCACCTTGGCGTCCCAAAGTGCTGGCATTATAGGCGCGAGCCACCGTGCCCAGCCTCAAATGACTTCTTTCCACCAACTTCCATCCCAGCCAATATCAGGCTGACTTGGCTGCTATATCCCTGAGGACAAGGCTGAACCCCTCTAAGTAGGCATCTGTTGGGCGGGCAATCTCCCCTGTCTTCTACTAATAGCACTTTTTTCCCCTGGGGAGAACAGCCACTCCCCAATCTCAGTCTTGGGTTCAGGCAGGACTCCACAGTGGGCACATGGCCCGGCCTGGAAAATAAGAGTCTCCATTCCTCTCTCCACAGTGATTGTTTAGACACAGGCATTTGACCCAACGTGTGTTTTTAACAAAACATTTAGGACAATTCTACTAGCTGTCAAGAAGATGGAGGTGGAGGAGGGCTTCTCTGCCCCTCTGATTGAAGAAACTCAGAAAGAAGCCACCACAGATGAAGGCAAAGTTGAGAGAGGGTGAGAAACAGATCGCTGGTGAGATTTTTGAGCACCTGAAAGTGGCCACACTTGGAATTTTTTATTTCATATACCAAGACTTTTTCTTTTTTTTCTTGAGACAGGGTCT
CTGGGTTCAAGCGATTCTCCTGCATCAGCCTCCCAAGTAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGCCGTGACCATGCCTAGCCATAAAAACATTTTTAGGGAAGAAATTCTGGGCCCAGCTGGGCCTGATGACAATTGTATGCCTTGATTTTTCAGTTGAATGGGCCCCCAAATTCTCTCTTTCTCTCTCTTTAACCAGTGGAGTAGATATGGCTAATTATCTTTAAAAATTCATGTCTACTTCCTTCCACAGTAGCAGAATTGCAGCAAGGCACATCACTGCTAAGCTAGACCACATTTCACAGCCTCCTTTGCCGTCAGATGTGACCATGTGACTCTCTTCCCACCAGGGGAGTGAGAGCAGAGTGGTGTGCACCATTTCTGGGCCTGGGCCACAAGGCAGGGTTGTGCCTCCTCCACATTCTTTCACCTTTTCCCATGGGTTGAACCCCCAGTGAACTGGCTCATTCATGTAGACTCGGTTGACTTGAGCAGGGCCACTCACGTCTGACTGAAAAAGAAATAGACTGCCTTCTTTTTTTCAGAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACCATCATGGCTCACCGCAGCCTCCAACTCCTGAGCTCAAGGGATCCTCCTGGCTCAGCCTCCTGAGTAGCTGAGACTACAGGTGCACACCTCCATGCCTGGCTCATTTTAAAAAATGTTTTGTAGAGACAAGTCACTATATTGCCCAGGCTCGTCTCAAACTTATGGGCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGGACCATCATGCCCAGCCGACTGTCTTTAAGCCACTGGATCATGGTCAGGCCTCTTTGTTACAGCAGCTAGCTGGCCCTAACTAATACAAGCAATAGGAGGTAGGCTCCCAGCACTAGCCAGGAAGGATGGTTGCTGATGCAAAGCTTCTCACCATCTGCACTTCATCGTAGAGGGGTCCCCAGGCTCCAGACGGGGGGTACGTTCTTTCTACCTCATCATACAAGTGCCCAGGGAAGGCCATATCCTCATCTTCACCTGTGAAACCTGGAGTTGGAGTGGAAGGGAGACACGATCAAGGCACCCAGTCCAGGCGTCGGGGGTACCTCTGAGTGAGGGAATCCTGACATGGTCCTAACTCACCTCGGGAATAAGACACCTCCTCCTGCGTCGGGGGCAGCTGGGGGCTGAAGTCCCTCAGGGAGCGGTAATACGGCTCTGCCTCTGTTGTGCTGACCTGTTCCCCACACGCAAAACAAACAAAGCCCTTTCCATCCTCTGACCCCACTGTGCCCGGAAGGGCAATGATCAACCTGATGCTAACGGCAGGGCTTCAGTCGCCGTCGGTGCCCTGATTGTGGGGTCACCAGGGCCACCCCCACTTACCGTGGAGCTCTGAGTGTCCCGCTCTCCTGTCCACTGGCTCTCCTCATATTCGTTCCTGACTCGGTCCTCTTCCGACCTTCCAGGATGAAGGTGTGGGGGGAAGTTGAGTGCTGCCCCCCGCCACCAGTCTCCCCCAAACCTCCCTCAGAGCCTTCTTTACAGAAAAATATCCCCACTTACCCTGCCTCTGTCTTCTCTGAGATGCCTGAAGGAAACAGGAATAAAGGGCTCAGTGACCCTATGCAAGCCCCCCACCCCGGCCCCAGGAAGACCTTCAGTATGCAGCAACCACAGGGTTCCCTATCACCCTCGGGTCTCCACCCTGGCAGGGAAGGGTCTCTCCTCACCCTCAGCAAGACGCCTGAGTCTCCGCTGCCAGAGGACCCCCCCCGACACAGGAGGCATTGGAGAGGAGCAGAAGCCCCCCAAGAGCGAACAGCACAGGCAGCAGGGGCAGCCCCGAGGGTCCTAGGGGTGGAAGATACCCCTCAGTGAATCCCAGACAACAGGCTGTAGGCCAGGGGTGGGTCTCCCCGAGAAAGTGTAGCCCTGACCAAGTCCCTCCCCCAGGGTCAGAGAAACAGATGGGCAGAGGTCTCTGTGCCCACCCTTTCTGCCCACCCAAGGGCAGGTGGCTTCTTTCTTAAGTCAAGCCATTAGCAAAACTTCCTCCGTTTGCTTGAACTCTGCAAACTCAGAACGGAACTCTGGACTCAGGAGGGAGCTTCAGCTCGTTAGCTGGGCACTGAAGACTTTCTGTGGTCCAGCCTCTTCCCACGCCTCCAGCCATGCCCACCAAACTTAGACCCTGGTACTGGACTGTCCAGCCACACAAATCAACCACCAGCTGTTTCCAGAATCACTGAAGCAAATTCACACCTCAGAGCTTTGGAATAGTTAAGTGTCTGTCCTCAAATGTCCTTTCTTCTCAAGCAAACTTCTGTTTGCCTTTCAAATTCTATCTCAAGGTCAGGCGCTGCAGCACATGCCTGTAATCCCAGCATGTTGGGAGGTCAAGGTGGGAGAATCGCTTGAGCCTAGGAGCTCAAGACCAGCCTAGGCAACATAGTGAGGCTGATTCTTTACAAAAAAAATTAAAAATTTAGCAGCATGGTGGTGCATGTCTATAGTCCCAGCTACTCGGGACACTGAAGCAAGAGGATTGCTTGAACCTGGTAAGTCAAGGCTCCAGTGAGCTATGATAGCACCACTGCACTCCAGCCTGGGCAGCAGAGCAAGACCCTGCCTCTGAAAAAAAAATCCCATCTCAAGGACTTCTTTATTTTATTTTGTTTTTTAATTAAGACGGAGTTGGCTGGGCACGGTGGCTCACGCCTATAATCCCAGCACTCTGGGAGGCTGAGGGGTTGGATCACAAGGTCAGGAGTTCAAAACCAGCCTGGCCGATATGGTAAAACCCTGTCTCTACTAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGGGAATCACTTGAACTGGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTGCAGGGTTCAAGCGATTCTTCTCCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACACCCGGCTAATTTTTTTTTTTTTTGTATTTTTAATAGAGACGGAGTTTCGCCATGTTGGACAGGCTGTTCTTGAACTCCTGGCTTCAAGTGGTCTGCCCACCTTGGCGTCCCAAAGTGCTGGCATTATAGGCGCGAGCCACCGTGCCCAGCCTCAAATGACTTCTTTCCACCAACTTCCATCCCAGCCAATATCAGGCTGACTTGGCTGCTATATCCCTGAGGACAAGGCTGAACCCCTCTAAGTAGGCATCTGTTGGGCGGGCAATCTCCCCTGTCTTCTACTAATAGCACTTTTTTCCCCTGGGGAGAACAGCCACTCCCCAATCTCAGTCTTGGGTTCAGGCAGGACTCCACAGTGGGCACATGGCCCGGCCTGGAAAATAAGAGTCTCCATTCCTCTCTCCACAGTGATTGTTTAGACACAGGCATTTGACCCAACGTGTGTTTTTAACAAAACATTTAGGACAATTCTACTAGCTGTCAAGAAGATGGAGGTGGAGGAGGGCTTCTCTGCCCCTCTGATTGAAGAAACTCAGAAAGAAGCCACCACAGATGAAGGCAAAGTTGAGAGAGGGTGAGAAACAGATCGCTGGTGAGATTTTTGAGCACCTGAAAGTGGCCACACTTGGAATTTTTTATTTCATATACCAAGACTTTTTCTTTTTTTTCTTGAGACAGGGTC
pathogenic
302,544
Chromosome 19, position 35831678, gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
CTGGGTTCAAGCGATTCTCCTGCATCAGCCTCCCAAGTAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGCCGTGACCATGCCTAGCCATAAAAACATTTTTAGGGAAGAAATTCTGGGCCCAGCTGGGCCTGATGACAATTGTATGCCTTGATTTTTCAGTTGAATGGGCCCCCAAATTCTCTCTTTCTCTCTCTTTAACCAGTGGAGTAGATATGGCTAATTATCTTTAAAAATTCATGTCTACTTCCTTCCACAGTAGCAGAATTGCAGCAAGGCACATCACTGCTAAGCTAGACCACATTTCACAGCCTCCTTTGCCGTCAGATGTGACCATGTGACTCTCTTCCCACCAGGGGAGTGAGAGCAGAGTGGTGTGCACCATTTCTGGGCCTGGGCCACAAGGCAGGGTTGTGCCTCCTCCACATTCTTTCACCTTTTCCCATGGGTTGAACCCCCAGTGAACTGGCTCATTCATGTAGACTCGGTTGACTTGAGCAGGGCCACTCACGTCTGACTGAAAAAGAAATAGACTGCCTTCTTTTTTTCAGAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACCATCATGGCTCACCGCAGCCTCCAACTCCTGAGCTCAAGGGATCCTCCTGGCTCAGCCTCCTGAGTAGCTGAGACTACAGGTGCACACCTCCATGCCTGGCTCATTTTAAAAAATGTTTTGTAGAGACAAGTCACTATATTGCCCAGGCTCGTCTCAAACTTATGGGCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGGACCATCATGCCCAGCCGACTGTCTTTAAGCCACTGGATCATGGTCAGGCCTCTTTGTTACAGCAGCTAGCTGGCCCTAACTAATACAAGCAATAGGAGGTAGGCTCCCAGCACTAGCCAGGAAGGATGGTTGCTGATGCAAAGCTTCTCACCATCTGCACTTCATCGTAGAGGGGTCCCCAGGCTCCAGACGGGGGGTACGTTCTTTCTACCTCATCATACAAGTGCCCAGGGAAGGCCATATCCTCATCTTCACCTGTGAAACCTGGAGTTGGAGTGGAAGGGAGACACGATCAAGGCACCCAGTCCAGGCGTCGGGGGTACCTCTGAGTGAGGGAATCCTGACATGGTCCTAACTCACCTCGGGAATAAGACACCTCCTCCTGCGTCGGGGGCAGCTGGGGGCTGAAGTCCCTCAGGGAGCGGTAATACGGCTCTGCCTCTGTTGTGCTGACCTGTTCCCCACACGCAAAACAAACAAAGCCCTTTCCATCCTCTGACCCCACTGTGCCCGGAAGGGCAATGATCAACCTGATGCTAACGGCAGGGCTTCAGTCGCCGTCGGTGCCCTGATTGTGGGGTCACCAGGGCCACCCCCACTTACCGTGGAGCTCTGAGTGTCCCGCTCTCCTGTCCACTGGCTCTCCTCATATTCGTTCCTGACTCGGTCCTCTTCCGACCTTCCAGGATGAAGGTGTGGGGGGAAGTTGAGTGCTGCCCCCCGCCACCAGTCTCCCCCAAACCTCCCTCAGAGCCTTCTTTACAGAAAAATATCCCCACTTACCCTGCCTCTGTCTTCTCTGAGATGCCTGAAGGAAACAGGAATAAAGGGCTCAGTGACCCTATGCAAGCCCCCCACCCCGGCCCCAGGAAGACCTTCAGTATGCAGCAACCACAGGGTTCCCTATCACCCTCGGGTCTCCACCCTGGCAGGGAAGGGTCTCTCCTCACCCTCAGCAAGACGCCTGAGTCTCCGCTGCCAGAGGACCCCCCCGACACAGGAGGCATTGGAGAGGAGCAGAAGCCCCCCAAGAGCGAACAGCACAGGCAGCAGGGGCAGCCCCGAGGGTCCTAGGGGTGGAAGATACCCCTCAGTGAATCCCAGACAACAGGCTGTAGGCCAGGGGTGGGTCTCCCCGAGAAAGTGTAGCCCTGACCAAGTCCCTCCCCCAGGGTCAGAGAAACAGATGGGCAGAGGTCTCTGTGCCCACCCTTTCTGCCCACCCAAGGGCAGGTGGCTTCTTTCTTAAGTCAAGCCATTAGCAAAACTTCCTCCGTTTGCTTGAACTCTGCAAACTCAGAACGGAACTCTGGACTCAGGAGGGAGCTTCAGCTCGTTAGCTGGGCACTGAAGACTTTCTGTGGTCCAGCCTCTTCCCACGCCTCCAGCCATGCCCACCAAACTTAGACCCTGGTACTGGACTGTCCAGCCACACAAATCAACCACCAGCTGTTTCCAGAATCACTGAAGCAAATTCACACCTCAGAGCTTTGGAATAGTTAAGTGTCTGTCCTCAAATGTCCTTTCTTCTCAAGCAAACTTCTGTTTGCCTTTCAAATTCTATCTCAAGGTCAGGCGCTGCAGCACATGCCTGTAATCCCAGCATGTTGGGAGGTCAAGGTGGGAGAATCGCTTGAGCCTAGGAGCTCAAGACCAGCCTAGGCAACATAGTGAGGCTGATTCTTTACAAAAAAAATTAAAAATTTAGCAGCATGGTGGTGCATGTCTATAGTCCCAGCTACTCGGGACACTGAAGCAAGAGGATTGCTTGAACCTGGTAAGTCAAGGCTCCAGTGAGCTATGATAGCACCACTGCACTCCAGCCTGGGCAGCAGAGCAAGACCCTGCCTCTGAAAAAAAAATCCCATCTCAAGGACTTCTTTATTTTATTTTGTTTTTTAATTAAGACGGAGTTGGCTGGGCACGGTGGCTCACGCCTATAATCCCAGCACTCTGGGAGGCTGAGGGGTTGGATCACAAGGTCAGGAGTTCAAAACCAGCCTGGCCGATATGGTAAAACCCTGTCTCTACTAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGGGAATCACTTGAACTGGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTGCAGGGTTCAAGCGATTCTTCTCCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACACCCGGCTAATTTTTTTTTTTTTTGTATTTTTAATAGAGACGGAGTTTCGCCATGTTGGACAGGCTGTTCTTGAACTCCTGGCTTCAAGTGGTCTGCCCACCTTGGCGTCCCAAAGTGCTGGCATTATAGGCGCGAGCCACCGTGCCCAGCCTCAAATGACTTCTTTCCACCAACTTCCATCCCAGCCAATATCAGGCTGACTTGGCTGCTATATCCCTGAGGACAAGGCTGAACCCCTCTAAGTAGGCATCTGTTGGGCGGGCAATCTCCCCTGTCTTCTACTAATAGCACTTTTTTCCCCTGGGGAGAACAGCCACTCCCCAATCTCAGTCTTGGGTTCAGGCAGGACTCCACAGTGGGCACATGGCCCGGCCTGGAAAATAAGAGTCTCCATTCCTCTCTCCACAGTGATTGTTTAGACACAGGCATTTGACCCAACGTGTGTTTTTAACAAAACATTTAGGACAATTCTACTAGCTGTCAAGAAGATGGAGGTGGAGGAGGGCTTCTCTGCCCCTCTGATTGAAGAAACTCAGAAAGAAGCCACCACAGATGAAGGCAAAGTTGAGAGAGGGTGAGAAACAGATCGCTGGTGAGATTTTTGAGCACCTGAAAGTGGCCACACTTGGAATTTTTTATTTCATATACCAAGACTTTTTCTTTTTTTTCTTGAGACAGGGTCT
CTGGGTTCAAGCGATTCTCCTGCATCAGCCTCCCAAGTAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGCCGTGACCATGCCTAGCCATAAAAACATTTTTAGGGAAGAAATTCTGGGCCCAGCTGGGCCTGATGACAATTGTATGCCTTGATTTTTCAGTTGAATGGGCCCCCAAATTCTCTCTTTCTCTCTCTTTAACCAGTGGAGTAGATATGGCTAATTATCTTTAAAAATTCATGTCTACTTCCTTCCACAGTAGCAGAATTGCAGCAAGGCACATCACTGCTAAGCTAGACCACATTTCACAGCCTCCTTTGCCGTCAGATGTGACCATGTGACTCTCTTCCCACCAGGGGAGTGAGAGCAGAGTGGTGTGCACCATTTCTGGGCCTGGGCCACAAGGCAGGGTTGTGCCTCCTCCACATTCTTTCACCTTTTCCCATGGGTTGAACCCCCAGTGAACTGGCTCATTCATGTAGACTCGGTTGACTTGAGCAGGGCCACTCACGTCTGACTGAAAAAGAAATAGACTGCCTTCTTTTTTTCAGAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACCATCATGGCTCACCGCAGCCTCCAACTCCTGAGCTCAAGGGATCCTCCTGGCTCAGCCTCCTGAGTAGCTGAGACTACAGGTGCACACCTCCATGCCTGGCTCATTTTAAAAAATGTTTTGTAGAGACAAGTCACTATATTGCCCAGGCTCGTCTCAAACTTATGGGCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGGACCATCATGCCCAGCCGACTGTCTTTAAGCCACTGGATCATGGTCAGGCCTCTTTGTTACAGCAGCTAGCTGGCCCTAACTAATACAAGCAATAGGAGGTAGGCTCCCAGCACTAGCCAGGAAGGATGGTTGCTGATGCAAAGCTTCTCACCATCTGCACTTCATCGTAGAGGGGTCCCCAGGCTCCAGACGGGGGGTACGTTCTTTCTACCTCATCATACAAGTGCCCAGGGAAGGCCATATCCTCATCTTCACCTGTGAAACCTGGAGTTGGAGTGGAAGGGAGACACGATCAAGGCACCCAGTCCAGGCGTCGGGGGTACCTCTGAGTGAGGGAATCCTGACATGGTCCTAACTCACCTCGGGAATAAGACACCTCCTCCTGCGTCGGGGGCAGCTGGGGGCTGAAGTCCCTCAGGGAGCGGTAATACGGCTCTGCCTCTGTTGTGCTGACCTGTTCCCCACACGCAAAACAAACAAAGCCCTTTCCATCCTCTGACCCCACTGTGCCCGGAAGGGCAATGATCAACCTGATGCTAACGGCAGGGCTTCAGTCGCCGTCGGTGCCCTGATTGTGGGGTCACCAGGGCCACCCCCACTTACCGTGGAGCTCTGAGTGTCCCGCTCTCCTGTCCACTGGCTCTCCTCATATTCGTTCCTGACTCGGTCCTCTTCCGACCTTCCAGGATGAAGGTGTGGGGGGAAGTTGAGTGCTGCCCCCCGCCACCAGTCTCCCCCAAACCTCCCTCAGAGCCTTCTTTACAGAAAAATATCCCCACTTACCCTGCCTCTGTCTTCTCTGAGATGCCTGAAGGAAACAGGAATAAAGGGCTCAGTGACCCTATGCAAGCCCCCCACCCCGGCCCCAGGAAGACCTTCAGTATGCAGCAACCACAGGGTTCCCTATCACCCTCGGGTCTCCACCCTGGCAGGGAAGGGTCTCTCCTCACCCTCAGCAAGACGCCTGAGTCTCCGCTGCCAGAGGACCCCCCGACACAGGAGGCATTGGAGAGGAGCAGAAGCCCCCCAAGAGCGAACAGCACAGGCAGCAGGGGCAGCCCCGAGGGTCCTAGGGGTGGAAGATACCCCTCAGTGAATCCCAGACAACAGGCTGTAGGCCAGGGGTGGGTCTCCCCGAGAAAGTGTAGCCCTGACCAAGTCCCTCCCCCAGGGTCAGAGAAACAGATGGGCAGAGGTCTCTGTGCCCACCCTTTCTGCCCACCCAAGGGCAGGTGGCTTCTTTCTTAAGTCAAGCCATTAGCAAAACTTCCTCCGTTTGCTTGAACTCTGCAAACTCAGAACGGAACTCTGGACTCAGGAGGGAGCTTCAGCTCGTTAGCTGGGCACTGAAGACTTTCTGTGGTCCAGCCTCTTCCCACGCCTCCAGCCATGCCCACCAAACTTAGACCCTGGTACTGGACTGTCCAGCCACACAAATCAACCACCAGCTGTTTCCAGAATCACTGAAGCAAATTCACACCTCAGAGCTTTGGAATAGTTAAGTGTCTGTCCTCAAATGTCCTTTCTTCTCAAGCAAACTTCTGTTTGCCTTTCAAATTCTATCTCAAGGTCAGGCGCTGCAGCACATGCCTGTAATCCCAGCATGTTGGGAGGTCAAGGTGGGAGAATCGCTTGAGCCTAGGAGCTCAAGACCAGCCTAGGCAACATAGTGAGGCTGATTCTTTACAAAAAAAATTAAAAATTTAGCAGCATGGTGGTGCATGTCTATAGTCCCAGCTACTCGGGACACTGAAGCAAGAGGATTGCTTGAACCTGGTAAGTCAAGGCTCCAGTGAGCTATGATAGCACCACTGCACTCCAGCCTGGGCAGCAGAGCAAGACCCTGCCTCTGAAAAAAAAATCCCATCTCAAGGACTTCTTTATTTTATTTTGTTTTTTAATTAAGACGGAGTTGGCTGGGCACGGTGGCTCACGCCTATAATCCCAGCACTCTGGGAGGCTGAGGGGTTGGATCACAAGGTCAGGAGTTCAAAACCAGCCTGGCCGATATGGTAAAACCCTGTCTCTACTAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGGGAATCACTTGAACTGGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTGCAGGGTTCAAGCGATTCTTCTCCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACACCCGGCTAATTTTTTTTTTTTTTGTATTTTTAATAGAGACGGAGTTTCGCCATGTTGGACAGGCTGTTCTTGAACTCCTGGCTTCAAGTGGTCTGCCCACCTTGGCGTCCCAAAGTGCTGGCATTATAGGCGCGAGCCACCGTGCCCAGCCTCAAATGACTTCTTTCCACCAACTTCCATCCCAGCCAATATCAGGCTGACTTGGCTGCTATATCCCTGAGGACAAGGCTGAACCCCTCTAAGTAGGCATCTGTTGGGCGGGCAATCTCCCCTGTCTTCTACTAATAGCACTTTTTTCCCCTGGGGAGAACAGCCACTCCCCAATCTCAGTCTTGGGTTCAGGCAGGACTCCACAGTGGGCACATGGCCCGGCCTGGAAAATAAGAGTCTCCATTCCTCTCTCCACAGTGATTGTTTAGACACAGGCATTTGACCCAACGTGTGTTTTTAACAAAACATTTAGGACAATTCTACTAGCTGTCAAGAAGATGGAGGTGGAGGAGGGCTTCTCTGCCCCTCTGATTGAAGAAACTCAGAAAGAAGCCACCACAGATGAAGGCAAAGTTGAGAGAGGGTGAGAAACAGATCGCTGGTGAGATTTTTGAGCACCTGAAAGTGGCCACACTTGGAATTTTTTATTTCATATACCAAGACTTTTTCTTTTTTTTCTTGAGACAGGGTCTN
pathogenic
302,545
Variant chromosome 19, position 35831715, gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? Disease(s)?
pathogenic; ['Finnish_congenital_nephrotic_syndrome', 'Inborn_genetic_diseases']
TAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGCCGTGACCATGCCTAGCCATAAAAACATTTTTAGGGAAGAAATTCTGGGCCCAGCTGGGCCTGATGACAATTGTATGCCTTGATTTTTCAGTTGAATGGGCCCCCAAATTCTCTCTTTCTCTCTCTTTAACCAGTGGAGTAGATATGGCTAATTATCTTTAAAAATTCATGTCTACTTCCTTCCACAGTAGCAGAATTGCAGCAAGGCACATCACTGCTAAGCTAGACCACATTTCACAGCCTCCTTTGCCGTCAGATGTGACCATGTGACTCTCTTCCCACCAGGGGAGTGAGAGCAGAGTGGTGTGCACCATTTCTGGGCCTGGGCCACAAGGCAGGGTTGTGCCTCCTCCACATTCTTTCACCTTTTCCCATGGGTTGAACCCCCAGTGAACTGGCTCATTCATGTAGACTCGGTTGACTTGAGCAGGGCCACTCACGTCTGACTGAAAAAGAAATAGACTGCCTTCTTTTTTTCAGAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACCATCATGGCTCACCGCAGCCTCCAACTCCTGAGCTCAAGGGATCCTCCTGGCTCAGCCTCCTGAGTAGCTGAGACTACAGGTGCACACCTCCATGCCTGGCTCATTTTAAAAAATGTTTTGTAGAGACAAGTCACTATATTGCCCAGGCTCGTCTCAAACTTATGGGCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGGACCATCATGCCCAGCCGACTGTCTTTAAGCCACTGGATCATGGTCAGGCCTCTTTGTTACAGCAGCTAGCTGGCCCTAACTAATACAAGCAATAGGAGGTAGGCTCCCAGCACTAGCCAGGAAGGATGGTTGCTGATGCAAAGCTTCTCACCATCTGCACTTCATCGTAGAGGGGTCCCCAGGCTCCAGACGGGGGGTACGTTCTTTCTACCTCATCATACAAGTGCCCAGGGAAGGCCATATCCTCATCTTCACCTGTGAAACCTGGAGTTGGAGTGGAAGGGAGACACGATCAAGGCACCCAGTCCAGGCGTCGGGGGTACCTCTGAGTGAGGGAATCCTGACATGGTCCTAACTCACCTCGGGAATAAGACACCTCCTCCTGCGTCGGGGGCAGCTGGGGGCTGAAGTCCCTCAGGGAGCGGTAATACGGCTCTGCCTCTGTTGTGCTGACCTGTTCCCCACACGCAAAACAAACAAAGCCCTTTCCATCCTCTGACCCCACTGTGCCCGGAAGGGCAATGATCAACCTGATGCTAACGGCAGGGCTTCAGTCGCCGTCGGTGCCCTGATTGTGGGGTCACCAGGGCCACCCCCACTTACCGTGGAGCTCTGAGTGTCCCGCTCTCCTGTCCACTGGCTCTCCTCATATTCGTTCCTGACTCGGTCCTCTTCCGACCTTCCAGGATGAAGGTGTGGGGGGAAGTTGAGTGCTGCCCCCCGCCACCAGTCTCCCCCAAACCTCCCTCAGAGCCTTCTTTACAGAAAAATATCCCCACTTACCCTGCCTCTGTCTTCTCTGAGATGCCTGAAGGAAACAGGAATAAAGGGCTCAGTGACCCTATGCAAGCCCCCCACCCCGGCCCCAGGAAGACCTTCAGTATGCAGCAACCACAGGGTTCCCTATCACCCTCGGGTCTCCACCCTGGCAGGGAAGGGTCTCTCCTCACCCTCAGCAAGACGCCTGAGTCTCCGCTGCCAGAGGACCCCCCCGACACAGGAGGCATTGGAGAGGAGCAGAAGCCCCCCAAGAGCGAACAGCACAGGCAGCAGGGGCAGCCCCGAGGGTCCTAGGGGTGGAAGATACCCCTCAGTGAATCCCAGACAACAGGCTGTAGGCCAGGGGTGGGTCTCCCCGAGAAAGTGTAGCCCTGACCAAGTCCCTCCCCCAGGGTCAGAGAAACAGATGGGCAGAGGTCTCTGTGCCCACCCTTTCTGCCCACCCAAGGGCAGGTGGCTTCTTTCTTAAGTCAAGCCATTAGCAAAACTTCCTCCGTTTGCTTGAACTCTGCAAACTCAGAACGGAACTCTGGACTCAGGAGGGAGCTTCAGCTCGTTAGCTGGGCACTGAAGACTTTCTGTGGTCCAGCCTCTTCCCACGCCTCCAGCCATGCCCACCAAACTTAGACCCTGGTACTGGACTGTCCAGCCACACAAATCAACCACCAGCTGTTTCCAGAATCACTGAAGCAAATTCACACCTCAGAGCTTTGGAATAGTTAAGTGTCTGTCCTCAAATGTCCTTTCTTCTCAAGCAAACTTCTGTTTGCCTTTCAAATTCTATCTCAAGGTCAGGCGCTGCAGCACATGCCTGTAATCCCAGCATGTTGGGAGGTCAAGGTGGGAGAATCGCTTGAGCCTAGGAGCTCAAGACCAGCCTAGGCAACATAGTGAGGCTGATTCTTTACAAAAAAAATTAAAAATTTAGCAGCATGGTGGTGCATGTCTATAGTCCCAGCTACTCGGGACACTGAAGCAAGAGGATTGCTTGAACCTGGTAAGTCAAGGCTCCAGTGAGCTATGATAGCACCACTGCACTCCAGCCTGGGCAGCAGAGCAAGACCCTGCCTCTGAAAAAAAAATCCCATCTCAAGGACTTCTTTATTTTATTTTGTTTTTTAATTAAGACGGAGTTGGCTGGGCACGGTGGCTCACGCCTATAATCCCAGCACTCTGGGAGGCTGAGGGGTTGGATCACAAGGTCAGGAGTTCAAAACCAGCCTGGCCGATATGGTAAAACCCTGTCTCTACTAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGGGAATCACTTGAACTGGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTGCAGGGTTCAAGCGATTCTTCTCCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACACCCGGCTAATTTTTTTTTTTTTTGTATTTTTAATAGAGACGGAGTTTCGCCATGTTGGACAGGCTGTTCTTGAACTCCTGGCTTCAAGTGGTCTGCCCACCTTGGCGTCCCAAAGTGCTGGCATTATAGGCGCGAGCCACCGTGCCCAGCCTCAAATGACTTCTTTCCACCAACTTCCATCCCAGCCAATATCAGGCTGACTTGGCTGCTATATCCCTGAGGACAAGGCTGAACCCCTCTAAGTAGGCATCTGTTGGGCGGGCAATCTCCCCTGTCTTCTACTAATAGCACTTTTTTCCCCTGGGGAGAACAGCCACTCCCCAATCTCAGTCTTGGGTTCAGGCAGGACTCCACAGTGGGCACATGGCCCGGCCTGGAAAATAAGAGTCTCCATTCCTCTCTCCACAGTGATTGTTTAGACACAGGCATTTGACCCAACGTGTGTTTTTAACAAAACATTTAGGACAATTCTACTAGCTGTCAAGAAGATGGAGGTGGAGGAGGGCTTCTCTGCCCCTCTGATTGAAGAAACTCAGAAAGAAGCCACCACAGATGAAGGCAAAGTTGAGAGAGGGTGAGAAACAGATCGCTGGTGAGATTTTTGAGCACCTGAAAGTGGCCACACTTGGAATTTTTTATTTCATATACCAAGACTTTTTCTTTTTTTTCTTGAGACAGGGTCTCAACTCTGTTGCCCAGGCTGCAGTGCAGTGGCGTGAG
TAGCCGGGATTACAAGTGTGTGCCACCACATCCAGATAATTTTTGCATTTTTTGTAGAAATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCTCAGAGTGCTGGGATTACTGGTGTGAGCCACCATGCTCGGCTTAACTTTTTTTTTTTTAAAGATGGGGTATTATTGTGTTGCCCAGGCTGGTCTCCAATACCTGGGCTCAAGCAATCCACCTACCTCAGCCTGCTGAGATTAGAGATATGAGCCGTGACCATGCCTAGCCATAAAAACATTTTTAGGGAAGAAATTCTGGGCCCAGCTGGGCCTGATGACAATTGTATGCCTTGATTTTTCAGTTGAATGGGCCCCCAAATTCTCTCTTTCTCTCTCTTTAACCAGTGGAGTAGATATGGCTAATTATCTTTAAAAATTCATGTCTACTTCCTTCCACAGTAGCAGAATTGCAGCAAGGCACATCACTGCTAAGCTAGACCACATTTCACAGCCTCCTTTGCCGTCAGATGTGACCATGTGACTCTCTTCCCACCAGGGGAGTGAGAGCAGAGTGGTGTGCACCATTTCTGGGCCTGGGCCACAAGGCAGGGTTGTGCCTCCTCCACATTCTTTCACCTTTTCCCATGGGTTGAACCCCCAGTGAACTGGCTCATTCATGTAGACTCGGTTGACTTGAGCAGGGCCACTCACGTCTGACTGAAAAAGAAATAGACTGCCTTCTTTTTTTCAGAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACCATCATGGCTCACCGCAGCCTCCAACTCCTGAGCTCAAGGGATCCTCCTGGCTCAGCCTCCTGAGTAGCTGAGACTACAGGTGCACACCTCCATGCCTGGCTCATTTTAAAAAATGTTTTGTAGAGACAAGTCACTATATTGCCCAGGCTCGTCTCAAACTTATGGGCTCAAGCGATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGGACCATCATGCCCAGCCGACTGTCTTTAAGCCACTGGATCATGGTCAGGCCTCTTTGTTACAGCAGCTAGCTGGCCCTAACTAATACAAGCAATAGGAGGTAGGCTCCCAGCACTAGCCAGGAAGGATGGTTGCTGATGCAAAGCTTCTCACCATCTGCACTTCATCGTAGAGGGGTCCCCAGGCTCCAGACGGGGGGTACGTTCTTTCTACCTCATCATACAAGTGCCCAGGGAAGGCCATATCCTCATCTTCACCTGTGAAACCTGGAGTTGGAGTGGAAGGGAGACACGATCAAGGCACCCAGTCCAGGCGTCGGGGGTACCTCTGAGTGAGGGAATCCTGACATGGTCCTAACTCACCTCGGGAATAAGACACCTCCTCCTGCGTCGGGGGCAGCTGGGGGCTGAAGTCCCTCAGGGAGCGGTAATACGGCTCTGCCTCTGTTGTGCTGACCTGTTCCCCACACGCAAAACAAACAAAGCCCTTTCCATCCTCTGACCCCACTGTGCCCGGAAGGGCAATGATCAACCTGATGCTAACGGCAGGGCTTCAGTCGCCGTCGGTGCCCTGATTGTGGGGTCACCAGGGCCACCCCCACTTACCGTGGAGCTCTGAGTGTCCCGCTCTCCTGTCCACTGGCTCTCCTCATATTCGTTCCTGACTCGGTCCTCTTCCGACCTTCCAGGATGAAGGTGTGGGGGGAAGTTGAGTGCTGCCCCCCGCCACCAGTCTCCCCCAAACCTCCCTCAGAGCCTTCTTTACAGAAAAATATCCCCACTTACCCTGCCTCTGTCTTCTCTGAGATGCCTGAAGGAAACAGGAATAAAGGGCTCAGTGACCCTATGCAAGCCCCCCACCCCGGCCCCAGGAAGACCTTCAGTATGCAGCAACCACAGGGTTCCCTATCACCCTCGGGTCTCCACCCTGGCAGGGAAGGGTCTCTCCTCACCCTCAGCAAGACGCCTGAGTCTCCGCTGCCAGAGGACCCCCCCGACACAGGAGGCATTGGAGAGGAGCAGAAGCCCCCAAGAGCGAACAGCACAGGCAGCAGGGGCAGCCCCGAGGGTCCTAGGGGTGGAAGATACCCCTCAGTGAATCCCAGACAACAGGCTGTAGGCCAGGGGTGGGTCTCCCCGAGAAAGTGTAGCCCTGACCAAGTCCCTCCCCCAGGGTCAGAGAAACAGATGGGCAGAGGTCTCTGTGCCCACCCTTTCTGCCCACCCAAGGGCAGGTGGCTTCTTTCTTAAGTCAAGCCATTAGCAAAACTTCCTCCGTTTGCTTGAACTCTGCAAACTCAGAACGGAACTCTGGACTCAGGAGGGAGCTTCAGCTCGTTAGCTGGGCACTGAAGACTTTCTGTGGTCCAGCCTCTTCCCACGCCTCCAGCCATGCCCACCAAACTTAGACCCTGGTACTGGACTGTCCAGCCACACAAATCAACCACCAGCTGTTTCCAGAATCACTGAAGCAAATTCACACCTCAGAGCTTTGGAATAGTTAAGTGTCTGTCCTCAAATGTCCTTTCTTCTCAAGCAAACTTCTGTTTGCCTTTCAAATTCTATCTCAAGGTCAGGCGCTGCAGCACATGCCTGTAATCCCAGCATGTTGGGAGGTCAAGGTGGGAGAATCGCTTGAGCCTAGGAGCTCAAGACCAGCCTAGGCAACATAGTGAGGCTGATTCTTTACAAAAAAAATTAAAAATTTAGCAGCATGGTGGTGCATGTCTATAGTCCCAGCTACTCGGGACACTGAAGCAAGAGGATTGCTTGAACCTGGTAAGTCAAGGCTCCAGTGAGCTATGATAGCACCACTGCACTCCAGCCTGGGCAGCAGAGCAAGACCCTGCCTCTGAAAAAAAAATCCCATCTCAAGGACTTCTTTATTTTATTTTGTTTTTTAATTAAGACGGAGTTGGCTGGGCACGGTGGCTCACGCCTATAATCCCAGCACTCTGGGAGGCTGAGGGGTTGGATCACAAGGTCAGGAGTTCAAAACCAGCCTGGCCGATATGGTAAAACCCTGTCTCTACTAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGGGAATCACTTGAACTGGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCTACTGCACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCACCTGCAGGGTTCAAGCGATTCTTCTCCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACACCCGGCTAATTTTTTTTTTTTTTGTATTTTTAATAGAGACGGAGTTTCGCCATGTTGGACAGGCTGTTCTTGAACTCCTGGCTTCAAGTGGTCTGCCCACCTTGGCGTCCCAAAGTGCTGGCATTATAGGCGCGAGCCACCGTGCCCAGCCTCAAATGACTTCTTTCCACCAACTTCCATCCCAGCCAATATCAGGCTGACTTGGCTGCTATATCCCTGAGGACAAGGCTGAACCCCTCTAAGTAGGCATCTGTTGGGCGGGCAATCTCCCCTGTCTTCTACTAATAGCACTTTTTTCCCCTGGGGAGAACAGCCACTCCCCAATCTCAGTCTTGGGTTCAGGCAGGACTCCACAGTGGGCACATGGCCCGGCCTGGAAAATAAGAGTCTCCATTCCTCTCTCCACAGTGATTGTTTAGACACAGGCATTTGACCCAACGTGTGTTTTTAACAAAACATTTAGGACAATTCTACTAGCTGTCAAGAAGATGGAGGTGGAGGAGGGCTTCTCTGCCCCTCTGATTGAAGAAACTCAGAAAGAAGCCACCACAGATGAAGGCAAAGTTGAGAGAGGGTGAGAAACAGATCGCTGGTGAGATTTTTGAGCACCTGAAAGTGGCCACACTTGGAATTTTTTATTTCATATACCAAGACTTTTTCTTTTTTTTCTTGAGACAGGGTCTCAACTCTGTTGCCCAGGCTGCAGTGCAGTGGCGTGAGN
pathogenic
302,550
Evaluate this variant at chromosome 19, position 35839284, gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
TAACATATTCATCATATTCAAGGAATTTGTCCTTCTCATCCAACTTGCTGAATTTATTGGAATAAAGTTATCCATAATATTCCCTAATTATCCTCTTAATGTCTGTGGAGTCTGTGGTAACATCCCTTCTTCCATTCCTGTTATTGGTAACTTGTATTTTCTCCCTTTTATTTGTCTTAATCAGATTTATAAATGTTATTGATTTTTTTCAAATAACCAGCTTCTGGTTTCATTGATTTTCTCAATTGTTTTTCTGTTTTCTAATTCATTCATTTCTGCTCTTACCATTATTATTTTCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTACAATGGCACCATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACAGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAAGTAATACACCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACAGTTTCTTAAGATGAAAACTTAGAATATGCATTTGAGGTTATTCTCTTAAAAAAAAAAAAAAAAAAAAAACGAAAACTAGTCCAGTCGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGACCGAAGCTGGTGGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAAATTACAGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATTGCTCAAACCCAGGAGGCGGGGGTTGCAGTGAGCCGAGACGGCACCATTGCACTCCACCCTGGGCAACAAGAACAAAACTGCGTCTCAGAACAAAAACAAACAAACAAAAAGTGGCCAAGCGTGGTGGCTCACACCTGTAATCTCAGCATTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACTAAAATTAGCTGGGCATGGTGGCACTTGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCCATCTCAAAAATAAAAAATAAGGCCGCGCATGGTGGCTCAGGCCTATGATTCTAGCACTTTGGGAGGCCAAGGTGAGTGGATCACAAGGTCAGGTGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTATTAAGAATACAAAATTAGCTGGGGGTGGTGGCACATGCCTGTAATCCCAGTTACTCAGAAGACTGAGTCAAGAGAATTGCTTGAACCCAGGAGATGAAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAATAAAAAAAAATTAAATAATTAAATAAAATAAAAAACTAAAATAAGCACTTAATGCTATAAATTTCCCTCTAAGTACTGCTTTAACTGCAACCTCAAATTTTTATATGTTTTCATTTTCATTTAATTCAAACTATTTTCTAATTTCCCTTGGTCATTAATCACATTCAGATAGTATGGGTTGTGGTTAACGGTTGGTCTCAAGTTCATCTGCCTGAGTTTCAATCTCATCTTTATCTTTTACTAGTTGTGTGACCTTGGACAATTTGCTTAACAGCTATAGGCCTCAGTAACTCATCATAAAAGGGGAATAGTATTGACTTCACCATACTACCCTACACATCCTCTGAGGAATACTCCAACCTGCCCAAGCCTCCCTTCCCACCTGGGGTAGTGATGGGAAGCTGGGTCCCTTTGTCAGCCAGTCCACTGTCCCCCAAGGCATTACTGGCCAGCAGCCAGACCCTGTATCTTGTAGAAGGCTGTAGACCAGTCAGCGTGAAGGTGGTGGCCTGGGGTGGTACGACATCCACATAGTGGAACCCTGGAGTCCCCAGGGCCTCATACCTGCAGGACAGGGGGATAGTAAATTCAGGGAAGTGCCCTAGCCCATTCCCTTCCCTCCTGCCTCGACAAGGACCCACCTGATGCAGAACCTCTGTGGCAGGCCCCCATCAAAGCCAGGCTTCCACTCCAGCCCCACGGAGTGTGGGGTCAGACTCACAACCTTTAATCCTGATGGAGGGTCAGGGCGGCCTATGGGGAGAAAGATGGGAAAGCAGTCAGAGGATACAAAAGAATTCCAGAAGATTCTGTCCAGGTTTTCCCTAGGAATGATTTTAAATATACAATCGCTTCTCATTGTTCATAGCATACTCATGTTCTGTAAGGTCATGGTGAACACTGCTCTGGCAAACACCAAACTGTCCCTGTAATCCCAGTACTTTGTGAGACCAAGTCTGAAAGATGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCAAATTAAACATTAAAATAAAAAATAATTTTAAAAAGAAGTAAGTGAAAACAAAACCAAAAGAAACAGCAAAAAAATTCAAGACCAAATGGTTACTTCTATGGAAAATGAAGGGTTAAGTTTCTTTCTTTTTTTTTTTTTCTTTTTTTTTAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGTAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGC
TAACATATTCATCATATTCAAGGAATTTGTCCTTCTCATCCAACTTGCTGAATTTATTGGAATAAAGTTATCCATAATATTCCCTAATTATCCTCTTAATGTCTGTGGAGTCTGTGGTAACATCCCTTCTTCCATTCCTGTTATTGGTAACTTGTATTTTCTCCCTTTTATTTGTCTTAATCAGATTTATAAATGTTATTGATTTTTTTCAAATAACCAGCTTCTGGTTTCATTGATTTTCTCAATTGTTTTTCTGTTTTCTAATTCATTCATTTCTGCTCTTACCATTATTATTTTCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTACAATGGCACCATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACAGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAAGTAATACACCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACAGTTTCTTAAGATGAAAACTTAGAATATGCATTTGAGGTTATTCTCTTAAAAAAAAAAAAAAAAAAAAAACGAAAACTAGTCCAGTCGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGACCGAAGCTGGTGGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAAATTACAGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATTGCTCAAACCCAGGAGGCGGGGGTTGCAGTGAGCCGAGACGGCACCATTGCACTCCACCCTGGGCAACAAGAACAAAACTGCGTCTCAGAACAAAAACAAACAAACAAAAAGTGGCCAAGCGTGGTGGCTCACACCTGTAATCTCAGCATTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACTAAAATTAGCTGGGCATGGTGGCACTTGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCCATCTCAAAAATAAAAAATAAGGCCGCGCATGGTGGCTCAGGCCTATGATTCTAGCACTTTGGGAGGCCAAGGTGAGTGGATCACAAGGTCAGGTGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTATTAAGAATACAAAATTAGCTGGGGGTGGTGGCACATGCCTGTAATCCCAGTTACTCAGAAGACTGAGTCAAGAGAATTGCTTGAACCCAGGAGATGAAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAATAAAAAAAAATTAAATAATTAAATAAAATAAAAAACTAAAATAAGCACTTAATGCTATAAATTTCCCTCTAAGTACTGCTTTAACTGCAACCTCAAATTTTTATATGTTTTCATTTTCATTTAATTCAAACTATTTTCTAATTTCCCTTGGTCATTAATCACATTCAGATAGTATGGGTTGTGGTTAACGGTTGGTCTCAAGTTCATCTGCCTGAGTTTCAATCTCATCTTTATCTTTTACTAGTTGTGTGACCTTGGACAATTTGCTTAACAGCTATAGGCCTCAGTAACTCATCATAAAAGGGGAATAGTATTGACTTCACCATACTACCCTACACATCCTCTGAGGAATACTCCAACCTGCCCAAGCCTCCCTTCCCACCTGGGGTAGTGATGGGAAGCTGGGTCCCTTTGTCAGCCAGTCCACTGTCCCCCCAAGGCATTACTGGCCAGCAGCCAGACCCTGTATCTTGTAGAAGGCTGTAGACCAGTCAGCGTGAAGGTGGTGGCCTGGGGTGGTACGACATCCACATAGTGGAACCCTGGAGTCCCCAGGGCCTCATACCTGCAGGACAGGGGGATAGTAAATTCAGGGAAGTGCCCTAGCCCATTCCCTTCCCTCCTGCCTCGACAAGGACCCACCTGATGCAGAACCTCTGTGGCAGGCCCCCATCAAAGCCAGGCTTCCACTCCAGCCCCACGGAGTGTGGGGTCAGACTCACAACCTTTAATCCTGATGGAGGGTCAGGGCGGCCTATGGGGAGAAAGATGGGAAAGCAGTCAGAGGATACAAAAGAATTCCAGAAGATTCTGTCCAGGTTTTCCCTAGGAATGATTTTAAATATACAATCGCTTCTCATTGTTCATAGCATACTCATGTTCTGTAAGGTCATGGTGAACACTGCTCTGGCAAACACCAAACTGTCCCTGTAATCCCAGTACTTTGTGAGACCAAGTCTGAAAGATGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCAAATTAAACATTAAAATAAAAAATAATTTTAAAAAGAAGTAAGTGAAAACAAAACCAAAAGAAACAGCAAAAAAATTCAAGACCAAATGGTTACTTCTATGGAAAATGAAGGGTTAAGTTTCTTTCTTTTTTTTTTTTTCTTTTTTTTTAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGTAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCG
pathogenic
302,554
Evaluate the clinical significance of the mutation at chromosome 19, position 35839284 in gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
TAACATATTCATCATATTCAAGGAATTTGTCCTTCTCATCCAACTTGCTGAATTTATTGGAATAAAGTTATCCATAATATTCCCTAATTATCCTCTTAATGTCTGTGGAGTCTGTGGTAACATCCCTTCTTCCATTCCTGTTATTGGTAACTTGTATTTTCTCCCTTTTATTTGTCTTAATCAGATTTATAAATGTTATTGATTTTTTTCAAATAACCAGCTTCTGGTTTCATTGATTTTCTCAATTGTTTTTCTGTTTTCTAATTCATTCATTTCTGCTCTTACCATTATTATTTTCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTACAATGGCACCATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACAGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAAGTAATACACCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACAGTTTCTTAAGATGAAAACTTAGAATATGCATTTGAGGTTATTCTCTTAAAAAAAAAAAAAAAAAAAAAACGAAAACTAGTCCAGTCGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGACCGAAGCTGGTGGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAAATTACAGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATTGCTCAAACCCAGGAGGCGGGGGTTGCAGTGAGCCGAGACGGCACCATTGCACTCCACCCTGGGCAACAAGAACAAAACTGCGTCTCAGAACAAAAACAAACAAACAAAAAGTGGCCAAGCGTGGTGGCTCACACCTGTAATCTCAGCATTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACTAAAATTAGCTGGGCATGGTGGCACTTGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCCATCTCAAAAATAAAAAATAAGGCCGCGCATGGTGGCTCAGGCCTATGATTCTAGCACTTTGGGAGGCCAAGGTGAGTGGATCACAAGGTCAGGTGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTATTAAGAATACAAAATTAGCTGGGGGTGGTGGCACATGCCTGTAATCCCAGTTACTCAGAAGACTGAGTCAAGAGAATTGCTTGAACCCAGGAGATGAAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAATAAAAAAAAATTAAATAATTAAATAAAATAAAAAACTAAAATAAGCACTTAATGCTATAAATTTCCCTCTAAGTACTGCTTTAACTGCAACCTCAAATTTTTATATGTTTTCATTTTCATTTAATTCAAACTATTTTCTAATTTCCCTTGGTCATTAATCACATTCAGATAGTATGGGTTGTGGTTAACGGTTGGTCTCAAGTTCATCTGCCTGAGTTTCAATCTCATCTTTATCTTTTACTAGTTGTGTGACCTTGGACAATTTGCTTAACAGCTATAGGCCTCAGTAACTCATCATAAAAGGGGAATAGTATTGACTTCACCATACTACCCTACACATCCTCTGAGGAATACTCCAACCTGCCCAAGCCTCCCTTCCCACCTGGGGTAGTGATGGGAAGCTGGGTCCCTTTGTCAGCCAGTCCACTGTCCCCCAAGGCATTACTGGCCAGCAGCCAGACCCTGTATCTTGTAGAAGGCTGTAGACCAGTCAGCGTGAAGGTGGTGGCCTGGGGTGGTACGACATCCACATAGTGGAACCCTGGAGTCCCCAGGGCCTCATACCTGCAGGACAGGGGGATAGTAAATTCAGGGAAGTGCCCTAGCCCATTCCCTTCCCTCCTGCCTCGACAAGGACCCACCTGATGCAGAACCTCTGTGGCAGGCCCCCATCAAAGCCAGGCTTCCACTCCAGCCCCACGGAGTGTGGGGTCAGACTCACAACCTTTAATCCTGATGGAGGGTCAGGGCGGCCTATGGGGAGAAAGATGGGAAAGCAGTCAGAGGATACAAAAGAATTCCAGAAGATTCTGTCCAGGTTTTCCCTAGGAATGATTTTAAATATACAATCGCTTCTCATTGTTCATAGCATACTCATGTTCTGTAAGGTCATGGTGAACACTGCTCTGGCAAACACCAAACTGTCCCTGTAATCCCAGTACTTTGTGAGACCAAGTCTGAAAGATGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCAAATTAAACATTAAAATAAAAAATAATTTTAAAAAGAAGTAAGTGAAAACAAAACCAAAAGAAACAGCAAAAAAATTCAAGACCAAATGGTTACTTCTATGGAAAATGAAGGGTTAAGTTTCTTTCTTTTTTTTTTTTTCTTTTTTTTTAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGTAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGC
TAACATATTCATCATATTCAAGGAATTTGTCCTTCTCATCCAACTTGCTGAATTTATTGGAATAAAGTTATCCATAATATTCCCTAATTATCCTCTTAATGTCTGTGGAGTCTGTGGTAACATCCCTTCTTCCATTCCTGTTATTGGTAACTTGTATTTTCTCCCTTTTATTTGTCTTAATCAGATTTATAAATGTTATTGATTTTTTTCAAATAACCAGCTTCTGGTTTCATTGATTTTCTCAATTGTTTTTCTGTTTTCTAATTCATTCATTTCTGCTCTTACCATTATTATTTTCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTACAATGGCACCATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACAGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAAGTAATACACCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACAGTTTCTTAAGATGAAAACTTAGAATATGCATTTGAGGTTATTCTCTTAAAAAAAAAAAAAAAAAAAAAACGAAAACTAGTCCAGTCGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGACCGAAGCTGGTGGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAAATTACAGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATTGCTCAAACCCAGGAGGCGGGGGTTGCAGTGAGCCGAGACGGCACCATTGCACTCCACCCTGGGCAACAAGAACAAAACTGCGTCTCAGAACAAAAACAAACAAACAAAAAGTGGCCAAGCGTGGTGGCTCACACCTGTAATCTCAGCATTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACTAAAATTAGCTGGGCATGGTGGCACTTGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCCATCTCAAAAATAAAAAATAAGGCCGCGCATGGTGGCTCAGGCCTATGATTCTAGCACTTTGGGAGGCCAAGGTGAGTGGATCACAAGGTCAGGTGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTATTAAGAATACAAAATTAGCTGGGGGTGGTGGCACATGCCTGTAATCCCAGTTACTCAGAAGACTGAGTCAAGAGAATTGCTTGAACCCAGGAGATGAAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAATAAAAAAAAATTAAATAATTAAATAAAATAAAAAACTAAAATAAGCACTTAATGCTATAAATTTCCCTCTAAGTACTGCTTTAACTGCAACCTCAAATTTTTATATGTTTTCATTTTCATTTAATTCAAACTATTTTCTAATTTCCCTTGGTCATTAATCACATTCAGATAGTATGGGTTGTGGTTAACGGTTGGTCTCAAGTTCATCTGCCTGAGTTTCAATCTCATCTTTATCTTTTACTAGTTGTGTGACCTTGGACAATTTGCTTAACAGCTATAGGCCTCAGTAACTCATCATAAAAGGGGAATAGTATTGACTTCACCATACTACCCTACACATCCTCTGAGGAATACTCCAACCTGCCCAAGCCTCCCTTCCCACCTGGGGTAGTGATGGGAAGCTGGGTCCCTTTGTCAGCCAGTCCACTGACCCCAAGGCATTACTGGCCAGCAGCCAGACCCTGTATCTTGTAGAAGGCTGTAGACCAGTCAGCGTGAAGGTGGTGGCCTGGGGTGGTACGACATCCACATAGTGGAACCCTGGAGTCCCCAGGGCCTCATACCTGCAGGACAGGGGGATAGTAAATTCAGGGAAGTGCCCTAGCCCATTCCCTTCCCTCCTGCCTCGACAAGGACCCACCTGATGCAGAACCTCTGTGGCAGGCCCCCATCAAAGCCAGGCTTCCACTCCAGCCCCACGGAGTGTGGGGTCAGACTCACAACCTTTAATCCTGATGGAGGGTCAGGGCGGCCTATGGGGAGAAAGATGGGAAAGCAGTCAGAGGATACAAAAGAATTCCAGAAGATTCTGTCCAGGTTTTCCCTAGGAATGATTTTAAATATACAATCGCTTCTCATTGTTCATAGCATACTCATGTTCTGTAAGGTCATGGTGAACACTGCTCTGGCAAACACCAAACTGTCCCTGTAATCCCAGTACTTTGTGAGACCAAGTCTGAAAGATGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCAAATTAAACATTAAAATAAAAAATAATTTTAAAAAGAAGTAAGTGAAAACAAAACCAAAAGAAACAGCAAAAAAATTCAAGACCAAATGGTTACTTCTATGGAAAATGAAGGGTTAAGTTTCTTTCTTTTTTTTTTTTTCTTTTTTTTTAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGTAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCN
pathogenic
302,555
A mutation at chromosome position 35839333 on chromosome 19 in gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
GAATTTATTGGAATAAAGTTATCCATAATATTCCCTAATTATCCTCTTAATGTCTGTGGAGTCTGTGGTAACATCCCTTCTTCCATTCCTGTTATTGGTAACTTGTATTTTCTCCCTTTTATTTGTCTTAATCAGATTTATAAATGTTATTGATTTTTTTCAAATAACCAGCTTCTGGTTTCATTGATTTTCTCAATTGTTTTTCTGTTTTCTAATTCATTCATTTCTGCTCTTACCATTATTATTTTCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTACAATGGCACCATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACAGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAAGTAATACACCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACAGTTTCTTAAGATGAAAACTTAGAATATGCATTTGAGGTTATTCTCTTAAAAAAAAAAAAAAAAAAAAAACGAAAACTAGTCCAGTCGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGACCGAAGCTGGTGGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAAATTACAGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATTGCTCAAACCCAGGAGGCGGGGGTTGCAGTGAGCCGAGACGGCACCATTGCACTCCACCCTGGGCAACAAGAACAAAACTGCGTCTCAGAACAAAAACAAACAAACAAAAAGTGGCCAAGCGTGGTGGCTCACACCTGTAATCTCAGCATTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACTAAAATTAGCTGGGCATGGTGGCACTTGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCCATCTCAAAAATAAAAAATAAGGCCGCGCATGGTGGCTCAGGCCTATGATTCTAGCACTTTGGGAGGCCAAGGTGAGTGGATCACAAGGTCAGGTGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTATTAAGAATACAAAATTAGCTGGGGGTGGTGGCACATGCCTGTAATCCCAGTTACTCAGAAGACTGAGTCAAGAGAATTGCTTGAACCCAGGAGATGAAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAATAAAAAAAAATTAAATAATTAAATAAAATAAAAAACTAAAATAAGCACTTAATGCTATAAATTTCCCTCTAAGTACTGCTTTAACTGCAACCTCAAATTTTTATATGTTTTCATTTTCATTTAATTCAAACTATTTTCTAATTTCCCTTGGTCATTAATCACATTCAGATAGTATGGGTTGTGGTTAACGGTTGGTCTCAAGTTCATCTGCCTGAGTTTCAATCTCATCTTTATCTTTTACTAGTTGTGTGACCTTGGACAATTTGCTTAACAGCTATAGGCCTCAGTAACTCATCATAAAAGGGGAATAGTATTGACTTCACCATACTACCCTACACATCCTCTGAGGAATACTCCAACCTGCCCAAGCCTCCCTTCCCACCTGGGGTAGTGATGGGAAGCTGGGTCCCTTTGTCAGCCAGTCCACTGTCCCCCAAGGCATTACTGGCCAGCAGCCAGACCCTGTATCTTGTAGAAGGCTGTAGACCAGTCAGCGTGAAGGTGGTGGCCTGGGGTGGTACGACATCCACATAGTGGAACCCTGGAGTCCCCAGGGCCTCATACCTGCAGGACAGGGGGATAGTAAATTCAGGGAAGTGCCCTAGCCCATTCCCTTCCCTCCTGCCTCGACAAGGACCCACCTGATGCAGAACCTCTGTGGCAGGCCCCCATCAAAGCCAGGCTTCCACTCCAGCCCCACGGAGTGTGGGGTCAGACTCACAACCTTTAATCCTGATGGAGGGTCAGGGCGGCCTATGGGGAGAAAGATGGGAAAGCAGTCAGAGGATACAAAAGAATTCCAGAAGATTCTGTCCAGGTTTTCCCTAGGAATGATTTTAAATATACAATCGCTTCTCATTGTTCATAGCATACTCATGTTCTGTAAGGTCATGGTGAACACTGCTCTGGCAAACACCAAACTGTCCCTGTAATCCCAGTACTTTGTGAGACCAAGTCTGAAAGATGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCAAATTAAACATTAAAATAAAAAATAATTTTAAAAAGAAGTAAGTGAAAACAAAACCAAAAGAAACAGCAAAAAAATTCAAGACCAAATGGTTACTTCTATGGAAAATGAAGGGTTAAGTTTCTTTCTTTTTTTTTTTTTCTTTTTTTTTAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGTAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACA
GAATTTATTGGAATAAAGTTATCCATAATATTCCCTAATTATCCTCTTAATGTCTGTGGAGTCTGTGGTAACATCCCTTCTTCCATTCCTGTTATTGGTAACTTGTATTTTCTCCCTTTTATTTGTCTTAATCAGATTTATAAATGTTATTGATTTTTTTCAAATAACCAGCTTCTGGTTTCATTGATTTTCTCAATTGTTTTTCTGTTTTCTAATTCATTCATTTCTGCTCTTACCATTATTATTTTCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTACAATGGCACCATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACAGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAAGTAATACACCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACAGTTTCTTAAGATGAAAACTTAGAATATGCATTTGAGGTTATTCTCTTAAAAAAAAAAAAAAAAAAAAAACGAAAACTAGTCCAGTCGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGACCGAAGCTGGTGGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAAATTACAGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATTGCTCAAACCCAGGAGGCGGGGGTTGCAGTGAGCCGAGACGGCACCATTGCACTCCACCCTGGGCAACAAGAACAAAACTGCGTCTCAGAACAAAAACAAACAAACAAAAAGTGGCCAAGCGTGGTGGCTCACACCTGTAATCTCAGCATTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACTAAAATTAGCTGGGCATGGTGGCACTTGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCCATCTCAAAAATAAAAAATAAGGCCGCGCATGGTGGCTCAGGCCTATGATTCTAGCACTTTGGGAGGCCAAGGTGAGTGGATCACAAGGTCAGGTGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTATTAAGAATACAAAATTAGCTGGGGGTGGTGGCACATGCCTGTAATCCCAGTTACTCAGAAGACTGAGTCAAGAGAATTGCTTGAACCCAGGAGATGAAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAATAAAAAAAAATTAAATAATTAAATAAAATAAAAAACTAAAATAAGCACTTAATGCTATAAATTTCCCTCTAAGTACTGCTTTAACTGCAACCTCAAATTTTTATATGTTTTCATTTTCATTTAATTCAAACTATTTTCTAATTTCCCTTGGTCATTAATCACATTCAGATAGTATGGGTTGTGGTTAACGGTTGGTCTCAAGTTCATCTGCCTGAGTTTCAATCTCATCTTTATCTTTTACTAGTTGTGTGACCTTGGACAATTTGCTTAACAGCTATAGGCCTCAGTAACTCATCATAAAAGGGGAATAGTATTGACTTCACCATACTACCCTACACATCCTCTGAGGAATACTCCAACCTGCCCAAGCCTCCCTTCCCACCTGGGGTAGTGATGGGAAGCTGGGTCCCTTTGTCAGCCAGTCCACTGTCCCCCAAGGCATTACTGGCCAGCAGCCAGACCCTGTATCTTGTAGAAGGCCAGTCAGCGTGAAGGTGGTGGCCTGGGGTGGTACGACATCCACATAGTGGAACCCTGGAGTCCCCAGGGCCTCATACCTGCAGGACAGGGGGATAGTAAATTCAGGGAAGTGCCCTAGCCCATTCCCTTCCCTCCTGCCTCGACAAGGACCCACCTGATGCAGAACCTCTGTGGCAGGCCCCCATCAAAGCCAGGCTTCCACTCCAGCCCCACGGAGTGTGGGGTCAGACTCACAACCTTTAATCCTGATGGAGGGTCAGGGCGGCCTATGGGGAGAAAGATGGGAAAGCAGTCAGAGGATACAAAAGAATTCCAGAAGATTCTGTCCAGGTTTTCCCTAGGAATGATTTTAAATATACAATCGCTTCTCATTGTTCATAGCATACTCATGTTCTGTAAGGTCATGGTGAACACTGCTCTGGCAAACACCAAACTGTCCCTGTAATCCCAGTACTTTGTGAGACCAAGTCTGAAAGATGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCAAATTAAACATTAAAATAAAAAATAATTTTAAAAAGAAGTAAGTGAAAACAAAACCAAAAGAAACAGCAAAAAAATTCAAGACCAAATGGTTACTTCTATGGAAAATGAAGGGTTAAGTTTCTTTCTTTTTTTTTTTTTCTTTTTTTTTAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGTAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACANNNNNNN
pathogenic
302,557
Regarding the variant found on chromosome 19 at position 35839355 in gene NPHS1 (NPHS1 adhesion molecule, nephrin): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
CCATAATATTCCCTAATTATCCTCTTAATGTCTGTGGAGTCTGTGGTAACATCCCTTCTTCCATTCCTGTTATTGGTAACTTGTATTTTCTCCCTTTTATTTGTCTTAATCAGATTTATAAATGTTATTGATTTTTTTCAAATAACCAGCTTCTGGTTTCATTGATTTTCTCAATTGTTTTTCTGTTTTCTAATTCATTCATTTCTGCTCTTACCATTATTATTTTCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTACAATGGCACCATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACAGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAAGTAATACACCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACAGTTTCTTAAGATGAAAACTTAGAATATGCATTTGAGGTTATTCTCTTAAAAAAAAAAAAAAAAAAAAAACGAAAACTAGTCCAGTCGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGACCGAAGCTGGTGGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAAATTACAGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATTGCTCAAACCCAGGAGGCGGGGGTTGCAGTGAGCCGAGACGGCACCATTGCACTCCACCCTGGGCAACAAGAACAAAACTGCGTCTCAGAACAAAAACAAACAAACAAAAAGTGGCCAAGCGTGGTGGCTCACACCTGTAATCTCAGCATTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACTAAAATTAGCTGGGCATGGTGGCACTTGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCCATCTCAAAAATAAAAAATAAGGCCGCGCATGGTGGCTCAGGCCTATGATTCTAGCACTTTGGGAGGCCAAGGTGAGTGGATCACAAGGTCAGGTGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTATTAAGAATACAAAATTAGCTGGGGGTGGTGGCACATGCCTGTAATCCCAGTTACTCAGAAGACTGAGTCAAGAGAATTGCTTGAACCCAGGAGATGAAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAATAAAAAAAAATTAAATAATTAAATAAAATAAAAAACTAAAATAAGCACTTAATGCTATAAATTTCCCTCTAAGTACTGCTTTAACTGCAACCTCAAATTTTTATATGTTTTCATTTTCATTTAATTCAAACTATTTTCTAATTTCCCTTGGTCATTAATCACATTCAGATAGTATGGGTTGTGGTTAACGGTTGGTCTCAAGTTCATCTGCCTGAGTTTCAATCTCATCTTTATCTTTTACTAGTTGTGTGACCTTGGACAATTTGCTTAACAGCTATAGGCCTCAGTAACTCATCATAAAAGGGGAATAGTATTGACTTCACCATACTACCCTACACATCCTCTGAGGAATACTCCAACCTGCCCAAGCCTCCCTTCCCACCTGGGGTAGTGATGGGAAGCTGGGTCCCTTTGTCAGCCAGTCCACTGTCCCCCAAGGCATTACTGGCCAGCAGCCAGACCCTGTATCTTGTAGAAGGCTGTAGACCAGTCAGCGTGAAGGTGGTGGCCTGGGGTGGTACGACATCCACATAGTGGAACCCTGGAGTCCCCAGGGCCTCATACCTGCAGGACAGGGGGATAGTAAATTCAGGGAAGTGCCCTAGCCCATTCCCTTCCCTCCTGCCTCGACAAGGACCCACCTGATGCAGAACCTCTGTGGCAGGCCCCCATCAAAGCCAGGCTTCCACTCCAGCCCCACGGAGTGTGGGGTCAGACTCACAACCTTTAATCCTGATGGAGGGTCAGGGCGGCCTATGGGGAGAAAGATGGGAAAGCAGTCAGAGGATACAAAAGAATTCCAGAAGATTCTGTCCAGGTTTTCCCTAGGAATGATTTTAAATATACAATCGCTTCTCATTGTTCATAGCATACTCATGTTCTGTAAGGTCATGGTGAACACTGCTCTGGCAAACACCAAACTGTCCCTGTAATCCCAGTACTTTGTGAGACCAAGTCTGAAAGATGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCAAATTAAACATTAAAATAAAAAATAATTTTAAAAAGAAGTAAGTGAAAACAAAACCAAAAGAAACAGCAAAAAAATTCAAGACCAAATGGTTACTTCTATGGAAAATGAAGGGTTAAGTTTCTTTCTTTTTTTTTTTTTCTTTTTTTTTAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGTAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAA
CCATAATATTCCCTAATTATCCTCTTAATGTCTGTGGAGTCTGTGGTAACATCCCTTCTTCCATTCCTGTTATTGGTAACTTGTATTTTCTCCCTTTTATTTGTCTTAATCAGATTTATAAATGTTATTGATTTTTTTCAAATAACCAGCTTCTGGTTTCATTGATTTTCTCAATTGTTTTTCTGTTTTCTAATTCATTCATTTCTGCTCTTACCATTATTATTTTCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTACAATGGCACCATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACAGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAAGTAATACACCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACAGTTTCTTAAGATGAAAACTTAGAATATGCATTTGAGGTTATTCTCTTAAAAAAAAAAAAAAAAAAAAAACGAAAACTAGTCCAGTCGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGACCGAAGCTGGTGGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAAATTACAGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATTGCTCAAACCCAGGAGGCGGGGGTTGCAGTGAGCCGAGACGGCACCATTGCACTCCACCCTGGGCAACAAGAACAAAACTGCGTCTCAGAACAAAAACAAACAAACAAAAAGTGGCCAAGCGTGGTGGCTCACACCTGTAATCTCAGCATTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACTAAAATTAGCTGGGCATGGTGGCACTTGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCCATCTCAAAAATAAAAAATAAGGCCGCGCATGGTGGCTCAGGCCTATGATTCTAGCACTTTGGGAGGCCAAGGTGAGTGGATCACAAGGTCAGGTGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTATTAAGAATACAAAATTAGCTGGGGGTGGTGGCACATGCCTGTAATCCCAGTTACTCAGAAGACTGAGTCAAGAGAATTGCTTGAACCCAGGAGATGAAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAATAAAAAAAAATTAAATAATTAAATAAAATAAAAAACTAAAATAAGCACTTAATGCTATAAATTTCCCTCTAAGTACTGCTTTAACTGCAACCTCAAATTTTTATATGTTTTCATTTTCATTTAATTCAAACTATTTTCTAATTTCCCTTGGTCATTAATCACATTCAGATAGTATGGGTTGTGGTTAACGGTTGGTCTCAAGTTCATCTGCCTGAGTTTCAATCTCATCTTTATCTTTTACTAGTTGTGTGACCTTGGACAATTTGCTTAACAGCTATAGGCCTCAGTAACTCATCATAAAAGGGGAATAGTATTGACTTCACCATACTACCCTACACATCCTCTGAGGAATACTCCAACCTGCCCAAGCCTCCCTTCCCACCTGGGGTAGTGATGGGAAGCTGGGTCCCTTTGTCAGCCAGTCCACTGTCCCCCAAGGCATTACTGGCCAGCAGCCAGACCCTGTATCTTGTAGAAGGCTGTAGACCAGTCAGCGTGAAGGTGTGGTGGCCTGGGGTGGTACGACATCCACATAGTGGAACCCTGGAGTCCCCAGGGCCTCATACCTGCAGGACAGGGGGATAGTAAATTCAGGGAAGTGCCCTAGCCCATTCCCTTCCCTCCTGCCTCGACAAGGACCCACCTGATGCAGAACCTCTGTGGCAGGCCCCCATCAAAGCCAGGCTTCCACTCCAGCCCCACGGAGTGTGGGGTCAGACTCACAACCTTTAATCCTGATGGAGGGTCAGGGCGGCCTATGGGGAGAAAGATGGGAAAGCAGTCAGAGGATACAAAAGAATTCCAGAAGATTCTGTCCAGGTTTTCCCTAGGAATGATTTTAAATATACAATCGCTTCTCATTGTTCATAGCATACTCATGTTCTGTAAGGTCATGGTGAACACTGCTCTGGCAAACACCAAACTGTCCCTGTAATCCCAGTACTTTGTGAGACCAAGTCTGAAAGATGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCAAATTAAACATTAAAATAAAAAATAATTTTAAAAAGAAGTAAGTGAAAACAAAACCAAAAGAAACAGCAAAAAAATTCAAGACCAAATGGTTACTTCTATGGAAAATGAAGGGTTAAGTTTCTTTCTTTTTTTTTTTTTCTTTTTTTTTAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGTAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAAC
pathogenic
302,559
Regarding the variant found on chromosome 19 at position 35839517 in gene NPHS1 (NPHS1 adhesion molecule, nephrin): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
TGATTTTCTCAATTGTTTTTCTGTTTTCTAATTCATTCATTTCTGCTCTTACCATTATTATTTTCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTACAATGGCACCATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACAGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAAGTAATACACCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACAGTTTCTTAAGATGAAAACTTAGAATATGCATTTGAGGTTATTCTCTTAAAAAAAAAAAAAAAAAAAAAACGAAAACTAGTCCAGTCGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGACCGAAGCTGGTGGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAAATTACAGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATTGCTCAAACCCAGGAGGCGGGGGTTGCAGTGAGCCGAGACGGCACCATTGCACTCCACCCTGGGCAACAAGAACAAAACTGCGTCTCAGAACAAAAACAAACAAACAAAAAGTGGCCAAGCGTGGTGGCTCACACCTGTAATCTCAGCATTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACTAAAATTAGCTGGGCATGGTGGCACTTGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCCATCTCAAAAATAAAAAATAAGGCCGCGCATGGTGGCTCAGGCCTATGATTCTAGCACTTTGGGAGGCCAAGGTGAGTGGATCACAAGGTCAGGTGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTATTAAGAATACAAAATTAGCTGGGGGTGGTGGCACATGCCTGTAATCCCAGTTACTCAGAAGACTGAGTCAAGAGAATTGCTTGAACCCAGGAGATGAAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAATAAAAAAAAATTAAATAATTAAATAAAATAAAAAACTAAAATAAGCACTTAATGCTATAAATTTCCCTCTAAGTACTGCTTTAACTGCAACCTCAAATTTTTATATGTTTTCATTTTCATTTAATTCAAACTATTTTCTAATTTCCCTTGGTCATTAATCACATTCAGATAGTATGGGTTGTGGTTAACGGTTGGTCTCAAGTTCATCTGCCTGAGTTTCAATCTCATCTTTATCTTTTACTAGTTGTGTGACCTTGGACAATTTGCTTAACAGCTATAGGCCTCAGTAACTCATCATAAAAGGGGAATAGTATTGACTTCACCATACTACCCTACACATCCTCTGAGGAATACTCCAACCTGCCCAAGCCTCCCTTCCCACCTGGGGTAGTGATGGGAAGCTGGGTCCCTTTGTCAGCCAGTCCACTGTCCCCCAAGGCATTACTGGCCAGCAGCCAGACCCTGTATCTTGTAGAAGGCTGTAGACCAGTCAGCGTGAAGGTGGTGGCCTGGGGTGGTACGACATCCACATAGTGGAACCCTGGAGTCCCCAGGGCCTCATACCTGCAGGACAGGGGGATAGTAAATTCAGGGAAGTGCCCTAGCCCATTCCCTTCCCTCCTGCCTCGACAAGGACCCACCTGATGCAGAACCTCTGTGGCAGGCCCCCATCAAAGCCAGGCTTCCACTCCAGCCCCACGGAGTGTGGGGTCAGACTCACAACCTTTAATCCTGATGGAGGGTCAGGGCGGCCTATGGGGAGAAAGATGGGAAAGCAGTCAGAGGATACAAAAGAATTCCAGAAGATTCTGTCCAGGTTTTCCCTAGGAATGATTTTAAATATACAATCGCTTCTCATTGTTCATAGCATACTCATGTTCTGTAAGGTCATGGTGAACACTGCTCTGGCAAACACCAAACTGTCCCTGTAATCCCAGTACTTTGTGAGACCAAGTCTGAAAGATGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCAAATTAAACATTAAAATAAAAAATAATTTTAAAAAGAAGTAAGTGAAAACAAAACCAAAAGAAACAGCAAAAAAATTCAAGACCAAATGGTTACTTCTATGGAAAATGAAGGGTTAAGTTTCTTTCTTTTTTTTTTTTTCTTTTTTTTTAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGTAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCC
TGATTTTCTCAATTGTTTTTCTGTTTTCTAATTCATTCATTTCTGCTCTTACCATTATTATTTTCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTACAATGGCACCATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACAGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAAGTAATACACCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACAGTTTCTTAAGATGAAAACTTAGAATATGCATTTGAGGTTATTCTCTTAAAAAAAAAAAAAAAAAAAAAACGAAAACTAGTCCAGTCGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGACCGAAGCTGGTGGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAAATTACAGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATTGCTCAAACCCAGGAGGCGGGGGTTGCAGTGAGCCGAGACGGCACCATTGCACTCCACCCTGGGCAACAAGAACAAAACTGCGTCTCAGAACAAAAACAAACAAACAAAAAGTGGCCAAGCGTGGTGGCTCACACCTGTAATCTCAGCATTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACTAAAATTAGCTGGGCATGGTGGCACTTGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCCATCTCAAAAATAAAAAATAAGGCCGCGCATGGTGGCTCAGGCCTATGATTCTAGCACTTTGGGAGGCCAAGGTGAGTGGATCACAAGGTCAGGTGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTATTAAGAATACAAAATTAGCTGGGGGTGGTGGCACATGCCTGTAATCCCAGTTACTCAGAAGACTGAGTCAAGAGAATTGCTTGAACCCAGGAGATGAAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAATAAAAAAAAATTAAATAATTAAATAAAATAAAAAACTAAAATAAGCACTTAATGCTATAAATTTCCCTCTAAGTACTGCTTTAACTGCAACCTCAAATTTTTATATGTTTTCATTTTCATTTAATTCAAACTATTTTCTAATTTCCCTTGGTCATTAATCACATTCAGATAGTATGGGTTGTGGTTAACGGTTGGTCTCAAGTTCATCTGCCTGAGTTTCAATCTCATCTTTATCTTTTACTAGTTGTGTGACCTTGGACAATTTGCTTAACAGCTATAGGCCTCAGTAACTCATCATAAAAGGGGAATAGTATTGACTTCACCATACTACCCTACACATCCTCTGAGGAATACTCCAACCTGCCCAAGCCTCCCTTCCCACCTGGGGTAGTGATGGGAAGCTGGGTCCCTTTGTCAGCCAGTCCACTGTCCCCCAAGGCATTACTGGCCAGCAGCCAGACCCTGTATCTTGTAGAAGGCTGTAGACCAGTCAGCGTGAAGGTGGTGGCCTGGGGTGGTACGACATCCACATAGTGGAACCCTGGAGTCCCCAGGGCCTCATACCTGCAGGACAGGGGGATAGTAAATTCAGGGAAGTGCCCTAGCCCATTCCCTTCCCTCCTGCCTCGACAAGGACCCACCTGATGCAGAACCTCTGTGGCAGCCCCCATCAAAGCCAGGCTTCCACTCCAGCCCCACGGAGTGTGGGGTCAGACTCACAACCTTTAATCCTGATGGAGGGTCAGGGCGGCCTATGGGGAGAAAGATGGGAAAGCAGTCAGAGGATACAAAAGAATTCCAGAAGATTCTGTCCAGGTTTTCCCTAGGAATGATTTTAAATATACAATCGCTTCTCATTGTTCATAGCATACTCATGTTCTGTAAGGTCATGGTGAACACTGCTCTGGCAAACACCAAACTGTCCCTGTAATCCCAGTACTTTGTGAGACCAAGTCTGAAAGATGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCAAATTAAACATTAAAATAAAAAATAATTTTAAAAAGAAGTAAGTGAAAACAAAACCAAAAGAAACAGCAAAAAAATTCAAGACCAAATGGTTACTTCTATGGAAAATGAAGGGTTAAGTTTCTTTCTTTTTTTTTTTTTCTTTTTTTTTAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGTAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCN
pathogenic
302,563
Considering the genetic mutation at chromosome 19, position 35839569, impacting NPHS1 (NPHS1 adhesion molecule, nephrin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic
CATTATTATTTTCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTACAATGGCACCATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACAGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAAGTAATACACCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACAGTTTCTTAAGATGAAAACTTAGAATATGCATTTGAGGTTATTCTCTTAAAAAAAAAAAAAAAAAAAAAACGAAAACTAGTCCAGTCGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGACCGAAGCTGGTGGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAAATTACAGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATTGCTCAAACCCAGGAGGCGGGGGTTGCAGTGAGCCGAGACGGCACCATTGCACTCCACCCTGGGCAACAAGAACAAAACTGCGTCTCAGAACAAAAACAAACAAACAAAAAGTGGCCAAGCGTGGTGGCTCACACCTGTAATCTCAGCATTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACTAAAATTAGCTGGGCATGGTGGCACTTGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCCATCTCAAAAATAAAAAATAAGGCCGCGCATGGTGGCTCAGGCCTATGATTCTAGCACTTTGGGAGGCCAAGGTGAGTGGATCACAAGGTCAGGTGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTATTAAGAATACAAAATTAGCTGGGGGTGGTGGCACATGCCTGTAATCCCAGTTACTCAGAAGACTGAGTCAAGAGAATTGCTTGAACCCAGGAGATGAAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAATAAAAAAAAATTAAATAATTAAATAAAATAAAAAACTAAAATAAGCACTTAATGCTATAAATTTCCCTCTAAGTACTGCTTTAACTGCAACCTCAAATTTTTATATGTTTTCATTTTCATTTAATTCAAACTATTTTCTAATTTCCCTTGGTCATTAATCACATTCAGATAGTATGGGTTGTGGTTAACGGTTGGTCTCAAGTTCATCTGCCTGAGTTTCAATCTCATCTTTATCTTTTACTAGTTGTGTGACCTTGGACAATTTGCTTAACAGCTATAGGCCTCAGTAACTCATCATAAAAGGGGAATAGTATTGACTTCACCATACTACCCTACACATCCTCTGAGGAATACTCCAACCTGCCCAAGCCTCCCTTCCCACCTGGGGTAGTGATGGGAAGCTGGGTCCCTTTGTCAGCCAGTCCACTGTCCCCCAAGGCATTACTGGCCAGCAGCCAGACCCTGTATCTTGTAGAAGGCTGTAGACCAGTCAGCGTGAAGGTGGTGGCCTGGGGTGGTACGACATCCACATAGTGGAACCCTGGAGTCCCCAGGGCCTCATACCTGCAGGACAGGGGGATAGTAAATTCAGGGAAGTGCCCTAGCCCATTCCCTTCCCTCCTGCCTCGACAAGGACCCACCTGATGCAGAACCTCTGTGGCAGGCCCCCATCAAAGCCAGGCTTCCACTCCAGCCCCACGGAGTGTGGGGTCAGACTCACAACCTTTAATCCTGATGGAGGGTCAGGGCGGCCTATGGGGAGAAAGATGGGAAAGCAGTCAGAGGATACAAAAGAATTCCAGAAGATTCTGTCCAGGTTTTCCCTAGGAATGATTTTAAATATACAATCGCTTCTCATTGTTCATAGCATACTCATGTTCTGTAAGGTCATGGTGAACACTGCTCTGGCAAACACCAAACTGTCCCTGTAATCCCAGTACTTTGTGAGACCAAGTCTGAAAGATGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCAAATTAAACATTAAAATAAAAAATAATTTTAAAAAGAAGTAAGTGAAAACAAAACCAAAAGAAACAGCAAAAAAATTCAAGACCAAATGGTTACTTCTATGGAAAATGAAGGGTTAAGTTTCTTTCTTTTTTTTTTTTTCTTTTTTTTTAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGTAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACT
CATTATTATTTTCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTACAATGGCACCATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACAGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAAGTAATACACCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACAGTTTCTTAAGATGAAAACTTAGAATATGCATTTGAGGTTATTCTCTTAAAAAAAAAAAAAAAAAAAAAACGAAAACTAGTCCAGTCGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGACCGAAGCTGGTGGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAAATTACAGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATTGCTCAAACCCAGGAGGCGGGGGTTGCAGTGAGCCGAGACGGCACCATTGCACTCCACCCTGGGCAACAAGAACAAAACTGCGTCTCAGAACAAAAACAAACAAACAAAAAGTGGCCAAGCGTGGTGGCTCACACCTGTAATCTCAGCATTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACTAAAATTAGCTGGGCATGGTGGCACTTGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCCATCTCAAAAATAAAAAATAAGGCCGCGCATGGTGGCTCAGGCCTATGATTCTAGCACTTTGGGAGGCCAAGGTGAGTGGATCACAAGGTCAGGTGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTATTAAGAATACAAAATTAGCTGGGGGTGGTGGCACATGCCTGTAATCCCAGTTACTCAGAAGACTGAGTCAAGAGAATTGCTTGAACCCAGGAGATGAAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAATAAAAAAAAATTAAATAATTAAATAAAATAAAAAACTAAAATAAGCACTTAATGCTATAAATTTCCCTCTAAGTACTGCTTTAACTGCAACCTCAAATTTTTATATGTTTTCATTTTCATTTAATTCAAACTATTTTCTAATTTCCCTTGGTCATTAATCACATTCAGATAGTATGGGTTGTGGTTAACGGTTGGTCTCAAGTTCATCTGCCTGAGTTTCAATCTCATCTTTATCTTTTACTAGTTGTGTGACCTTGGACAATTTGCTTAACAGCTATAGGCCTCAGTAACTCATCATAAAAGGGGAATAGTATTGACTTCACCATACTACCCTACACATCCTCTGAGGAATACTCCAACCTGCCCAAGCCTCCCTTCCCACCTGGGGTAGTGATGGGAAGCTGGGTCCCTTTGTCAGCCAGTCCACTGTCCCCCAAGGCATTACTGGCCAGCAGCCAGACCCTGTATCTTGTAGAAGGCTGTAGACCAGTCAGCGTGAAGGTGGTGGCCTGGGGTGGTACGACATCCACATAGTGGAACCCTGGAGTCCCCAGGGCCTCATACCTGCAGGACAGGGGGATAGTAAATTCAGGGAAGTGCCCTAGCCCATTCCCTTCCCTCCTGCCTCGACAAGGACCCACCTGATGCAGAACCTCTGTGGCAGGCCCCCATCAAAGCCAGGCTTCCACTCCAGCCCCACGGAGTGTGGGGTCAGACCTTTAATCCTGATGGAGGGTCAGGGCGGCCTATGGGGAGAAAGATGGGAAAGCAGTCAGAGGATACAAAAGAATTCCAGAAGATTCTGTCCAGGTTTTCCCTAGGAATGATTTTAAATATACAATCGCTTCTCATTGTTCATAGCATACTCATGTTCTGTAAGGTCATGGTGAACACTGCTCTGGCAAACACCAAACTGTCCCTGTAATCCCAGTACTTTGTGAGACCAAGTCTGAAAGATGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCAAATTAAACATTAAAATAAAAAATAATTTTAAAAAGAAGTAAGTGAAAACAAAACCAAAAGAAACAGCAAAAAAATTCAAGACCAAATGGTTACTTCTATGGAAAATGAAGGGTTAAGTTTCTTTCTTTTTTTTTTTTTCTTTTTTTTTAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGTAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTNNNNNNN
pathogenic
302,566
Gene mutation in NPHS1 (NPHS1 adhesion molecule, nephrin) at chromosome 19, position 35839580—is it benign or pathogenic? If pathogenic, specify the disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
TCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTACAATGGCACCATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACAGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAAGTAATACACCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACAGTTTCTTAAGATGAAAACTTAGAATATGCATTTGAGGTTATTCTCTTAAAAAAAAAAAAAAAAAAAAAACGAAAACTAGTCCAGTCGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGACCGAAGCTGGTGGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAAATTACAGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATTGCTCAAACCCAGGAGGCGGGGGTTGCAGTGAGCCGAGACGGCACCATTGCACTCCACCCTGGGCAACAAGAACAAAACTGCGTCTCAGAACAAAAACAAACAAACAAAAAGTGGCCAAGCGTGGTGGCTCACACCTGTAATCTCAGCATTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACTAAAATTAGCTGGGCATGGTGGCACTTGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCCATCTCAAAAATAAAAAATAAGGCCGCGCATGGTGGCTCAGGCCTATGATTCTAGCACTTTGGGAGGCCAAGGTGAGTGGATCACAAGGTCAGGTGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTATTAAGAATACAAAATTAGCTGGGGGTGGTGGCACATGCCTGTAATCCCAGTTACTCAGAAGACTGAGTCAAGAGAATTGCTTGAACCCAGGAGATGAAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAATAAAAAAAAATTAAATAATTAAATAAAATAAAAAACTAAAATAAGCACTTAATGCTATAAATTTCCCTCTAAGTACTGCTTTAACTGCAACCTCAAATTTTTATATGTTTTCATTTTCATTTAATTCAAACTATTTTCTAATTTCCCTTGGTCATTAATCACATTCAGATAGTATGGGTTGTGGTTAACGGTTGGTCTCAAGTTCATCTGCCTGAGTTTCAATCTCATCTTTATCTTTTACTAGTTGTGTGACCTTGGACAATTTGCTTAACAGCTATAGGCCTCAGTAACTCATCATAAAAGGGGAATAGTATTGACTTCACCATACTACCCTACACATCCTCTGAGGAATACTCCAACCTGCCCAAGCCTCCCTTCCCACCTGGGGTAGTGATGGGAAGCTGGGTCCCTTTGTCAGCCAGTCCACTGTCCCCCAAGGCATTACTGGCCAGCAGCCAGACCCTGTATCTTGTAGAAGGCTGTAGACCAGTCAGCGTGAAGGTGGTGGCCTGGGGTGGTACGACATCCACATAGTGGAACCCTGGAGTCCCCAGGGCCTCATACCTGCAGGACAGGGGGATAGTAAATTCAGGGAAGTGCCCTAGCCCATTCCCTTCCCTCCTGCCTCGACAAGGACCCACCTGATGCAGAACCTCTGTGGCAGGCCCCCATCAAAGCCAGGCTTCCACTCCAGCCCCACGGAGTGTGGGGTCAGACTCACAACCTTTAATCCTGATGGAGGGTCAGGGCGGCCTATGGGGAGAAAGATGGGAAAGCAGTCAGAGGATACAAAAGAATTCCAGAAGATTCTGTCCAGGTTTTCCCTAGGAATGATTTTAAATATACAATCGCTTCTCATTGTTCATAGCATACTCATGTTCTGTAAGGTCATGGTGAACACTGCTCTGGCAAACACCAAACTGTCCCTGTAATCCCAGTACTTTGTGAGACCAAGTCTGAAAGATGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCAAATTAAACATTAAAATAAAAAATAATTTTAAAAAGAAGTAAGTGAAAACAAAACCAAAAGAAACAGCAAAAAAATTCAAGACCAAATGGTTACTTCTATGGAAAATGAAGGGTTAAGTTTCTTTCTTTTTTTTTTTTTCTTTTTTTTTAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGTAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAG
TCTTCTTTCTGTTTACTTTGGGTTTAATTTGTTCGTCTTTTATTAGCTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTACAATGGCACCATCTCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAACTGGGATTACAGGCATGTGCCACCACACCCGGCTAATTTTGTATTTTCAGTAGAGACAGGGTTTTTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAAGTAATACACCCGCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCACAGTTTCTTAAGATGAAAACTTAGAATATGCATTTGAGGTTATTCTCTTAAAAAAAAAAAAAAAAAAAAAACGAAAACTAGTCCAGTCGTGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGACCGAAGCTGGTGGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGACAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAAATTACAGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAAAATTGCTCAAACCCAGGAGGCGGGGGTTGCAGTGAGCCGAGACGGCACCATTGCACTCCACCCTGGGCAACAAGAACAAAACTGCGTCTCAGAACAAAAACAAACAAACAAAAAGTGGCCAAGCGTGGTGGCTCACACCTGTAATCTCAGCATTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACTAAAATTAGCTGGGCATGGTGGCACTTGCCTGTAATCCCAGCTACTTAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCCATCTCAAAAATAAAAAATAAGGCCGCGCATGGTGGCTCAGGCCTATGATTCTAGCACTTTGGGAGGCCAAGGTGAGTGGATCACAAGGTCAGGTGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTATTAAGAATACAAAATTAGCTGGGGGTGGTGGCACATGCCTGTAATCCCAGTTACTCAGAAGACTGAGTCAAGAGAATTGCTTGAACCCAGGAGATGAAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAATAAAAAAAAATTAAATAATTAAATAAAATAAAAAACTAAAATAAGCACTTAATGCTATAAATTTCCCTCTAAGTACTGCTTTAACTGCAACCTCAAATTTTTATATGTTTTCATTTTCATTTAATTCAAACTATTTTCTAATTTCCCTTGGTCATTAATCACATTCAGATAGTATGGGTTGTGGTTAACGGTTGGTCTCAAGTTCATCTGCCTGAGTTTCAATCTCATCTTTATCTTTTACTAGTTGTGTGACCTTGGACAATTTGCTTAACAGCTATAGGCCTCAGTAACTCATCATAAAAGGGGAATAGTATTGACTTCACCATACTACCCTACACATCCTCTGAGGAATACTCCAACCTGCCCAAGCCTCCCTTCCCACCTGGGGTAGTGATGGGAAGCTGGGTCCCTTTGTCAGCCAGTCCACTGTCCCCCAAGGCATTACTGGCCAGCAGCCAGACCCTGTATCTTGTAGAAGGCTGTAGACCAGTCAGCGTGAAGGTGGTGGCCTGGGGTGGTACGACATCCACATAGTGGAACCCTGGAGTCCCCAGGGCCTCATACCTGCAGGACAGGGGGATAGTAAATTCAGGGAAGTGCCCTAGCCCATTCCCTTCCCTCCTGCCTCGACAAGGACCCACCTGATGCAGAACCTCTGTGGCAGGCCCCCATCAAAGCCAGGCTTCCACTCCAGCCCCACGGAGTGTGGGGTCAGACTCACAACCTATCCTGATGGAGGGTCAGGGCGGCCTATGGGGAGAAAGATGGGAAAGCAGTCAGAGGATACAAAAGAATTCCAGAAGATTCTGTCCAGGTTTTCCCTAGGAATGATTTTAAATATACAATCGCTTCTCATTGTTCATAGCATACTCATGTTCTGTAAGGTCATGGTGAACACTGCTCTGGCAAACACCAAACTGTCCCTGTAATCCCAGTACTTTGTGAGACCAAGTCTGAAAGATGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCAAATTAAACATTAAAATAAAAAATAATTTTAAAAAGAAGTAAGTGAAAACAAAACCAAAAGAAACAGCAAAAAAATTCAAGACCAAATGGTTACTTCTATGGAAAATGAAGGGTTAAGTTTCTTTCTTTTTTTTTTTTTCTTTTTTTTTAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGTAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGNNN
pathogenic
302,567
Regarding the variant at chromosome 19 and position 35841775, affecting gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
CTCATGTTCTGTAAGGTCATGGTGAACACTGCTCTGGCAAACACCAAACTGTCCCTGTAATCCCAGTACTTTGTGAGACCAAGTCTGAAAGATGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCAAATTAAACATTAAAATAAAAAATAATTTTAAAAAGAAGTAAGTGAAAACAAAACCAAAAGAAACAGCAAAAAAATTCAAGACCAAATGGTTACTTCTATGGAAAATGAAGGGTTAAGTTTCTTTCTTTTTTTTTTTTTCTTTTTTTTTAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGTAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAA
CTCATGTTCTGTAAGGTCATGGTGAACACTGCTCTGGCAAACACCAAACTGTCCCTGTAATCCCAGTACTTTGTGAGACCAAGTCTGAAAGATGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCAAATTAAACATTAAAATAAAAAATAATTTTAAAAAGAAGTAAGTGAAAACAAAACCAAAAGAAACAGCAAAAAAATTCAAGACCAAATGGTTACTTCTATGGAAAATGAAGGGTTAAGTTTCTTTCTTTTTTTTTTTTTCTTTTTTTTTAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGTAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAANNNN
pathogenic
302,569
Mutation at chromosome 19, position 35841843, within NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
CTTTGTGAGACCAAGTCTGAAAGATGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCAAATTAAACATTAAAATAAAAAATAATTTTAAAAAGAAGTAAGTGAAAACAAAACCAAAAGAAACAGCAAAAAAATTCAAGACCAAATGGTTACTTCTATGGAAAATGAAGGGTTAAGTTTCTTTCTTTTTTTTTTTTTCTTTTTTTTTAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGTAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCG
CTTTGTGAGACCAAGTCTGAAAGATGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCAAATTAAACATTAAAATAAAAAATAATTTTAAAAAGAAGTAAGTGAAAACAAAACCAAAAGAAACAGCAAAAAAATTCAAGACCAAATGGTTACTTCTATGGAAAATGAAGGGTTAAGTTTCTTTCTTTTTTTTTTTTTCTTTTTTTTTAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGTAGTGGTGCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGN
pathogenic
302,572
The mutation impacting NPHS1 (NPHS1 adhesion molecule, nephrin) on chromosome 19 at position 35842114: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
GCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGC
GCAATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCNNNNNNNNNN
pathogenic
302,574
Clinically, how would you classify the variant at chromosome 19, position 35842153, gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
AGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGA
AGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAG
pathogenic
302,579
Does the variant impacting NPHS1 (NPHS1 adhesion molecule, nephrin) on chromosome 19, position 35842179, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
AGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCG
AGTAGCTGGATTACAGGTGCCCGCCACCATGCCCAGCTAATTTTTCATATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATG
pathogenic
302,581
Regarding the variant found on chromosome 19 at position 35842243 in gene NPHS1 (NPHS1 adhesion molecule, nephrin): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
GGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGG
GGGTTTCACTATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGNNNN
pathogenic
302,584
Gene NPHS1 (NPHS1 adhesion molecule, nephrin) variant at chromosome position 35842271 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
TCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCAC
TCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATGGTTAGGTTTCTTTTCTTTTTTTTTTCTTTTCCTTTTTTTCTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACN
pathogenic
302,586
Evaluate the clinical significance of the mutation at chromosome 19, position 35842472 in gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
TCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGAT
TCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATNN
pathogenic
302,593
Gene NPHS1 (NPHS1 adhesion molecule, nephrin) variant at chromosome 19, position 35842497—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
CTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGG
CTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTCTGTATTTTTAGTACAGACGGGTTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCAGTTAGGTTTCTTTAAACGTCTCATCATAGCATTTGCGTCAAGCAATCAATACATGATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGAACTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAACAATTCTTCTGCCTCAGCCTCCCGAGTAACTGGGATTACAAGCGCATGCCATCACGCCCGGCTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGACTAATCCTGGTATTTTCATACTACTGTTAGGAAGAGAAAGAATTCTGTTTCCTCTGGGAATTCTAACAGACCACTGTGAGGGCCCTTAGAATAAAGCCAACACAGAGACATGCAGACGTAAGAATGAAGAGGGCTGGTCATCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAGAAATACAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGATGAGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATCGCACTCCAGCCTGGGTGACAAGAGTGAATCTCCATTTCAACAACAACAACAACAACAACAACAACAAAAAGAATGGAGAGTTGCTGATGGCAGCTGAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGN
pathogenic
302,596
A genetic alteration at chromosome 19, position 35843479, in gene NPHS1 (NPHS1 adhesion molecule, nephrin)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
GAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGG
GAACCTAGATCCAGAAACCCCTGAAAATCTATTTTTCAGTTACTTGAGCTAACAAGTACCCCCTCTCCATCTTTTTTCTGTTCTTTTCTTTTTCTTTTGCCTTTGTTGTGGGTCTTCCTGAAGATCCAGTCTCCATTAGGATTTTCAGGGCAGGCAAAAACTCCATCCTCACACATACACAGAACTTCCGGTTTCAGAAACATGGGCAGCCCAGGGCCAATCAGGGATGTGGGAATGGATCCAGGGAGCACCCCCTCCCCAACACCCTCACAGCCCCTCCATACTGATGCTGACAAGTTGAATGTTGGTTTGGTCCGAGCCAAGGGCGTTGGTGGCTGTACATGTGAAGAGGGCGTAATCCTGGGCGGCAGACACGTTGGCAATGGTCAGGAGGCTGCTGTGGACACCACCCTGGTGGTATGTGTGCTCCGTGTACCTAGAGAGAAGGTAGGGCACCACTCACCCTTCCATTCACCCAACCACTTATGCTTGGAATCATCTATGCATCCATCCATTAATGTAACCGTCTGCCTATCTATCCATTCATCCATTTATCTTTTCATCCACTCAACCATTCACTCACTCATTCCTCCACCCATTCGTCTTCCTTCTCTGCAGGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGN
pathogenic
302,601
Mutation found at chromosome 19 position 35844096, gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
GGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATG
GGGACTCAGGGAGGGGAAGTGGGGCTGGAGGTCCAGACCTGGGGCTGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
pathogenic
302,609
The chromosome 19, position 35844141 genetic variant in gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
TGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCG
TGGAGTGCTGCCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGNN
pathogenic
302,611
The mutation in gene NPHS1 (NPHS1 adhesion molecule, nephrin) at chromosome 19, position 35844151—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
CCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTAC
CCTGGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACNNNNNNNN
pathogenic
302,612
Evaluate if the mutation on chromosome 19 at position 35844154 in NPHS1 (NPHS1 adhesion molecule, nephrin) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
GGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGG
GGCTGGGCTTGGGCTCACCTGGGATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGG
pathogenic
302,613
Does the chromosome 19 mutation at position 35844177 within gene NPHS1 (NPHS1 adhesion molecule, nephrin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
ATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAG
ATCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGN
pathogenic
302,614
Evaluate if the mutation on chromosome 19 at position 35844178 in NPHS1 (NPHS1 adhesion molecule, nephrin) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
TCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGG
TCTTGGAGATCCAGAGGGACCCCGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGNN
pathogenic
302,615
Is the genetic mutation found on chromosome 19 at position 35844200, within the gene NPHS1 (NPHS1 adhesion molecule, nephrin), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
CGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAAC
CGTTTTTTGTCCAAGTGAAAACGATGTTGGGGACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATTGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAA
pathogenic
302,620
Determine if the mutation at chromosome 19, position 35844231 in gene NPHS1 (NPHS1 adhesion molecule, nephrin) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
GACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTG
GACACCTCGGGCACGGCAGTGGAGGGTGGCAGAACTGGTGCTGTCTCCAGCTGCAGCCACCTTAGTTAGGGGAGTGGGGTGCTCCACCTGGGGGGCAACTGGGAGGGGATGGGCAGTCAACATGAGCTATGTGGGAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGN
pathogenic
302,621
Gene mutation in NPHS1 (NPHS1 adhesion molecule, nephrin) at chromosome 19, position 35844365—is it benign or pathogenic? If pathogenic, specify the disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
GAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCC
GAGACATGAGGGCTGTGGGTTCAGTGGCAGGTCTTGAAGTCAGGTGTTTGGGTAATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCNN
pathogenic
302,624
Chromosome 19, position 35844418, gene NPHS1 (NPHS1 adhesion molecule, nephrin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
AATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACT
AATACCCACATCTGACAACAAGACGGAGCAGCCGTCGTGCTGGAGGCGCCACCCCATTGTCCACAATGCACTGGTAAGCGCCAGCCTGGGCCAGTTTGGCATGGTGAATCCGCAGGCGCCCCGTTGGTCCCCTGGATATCTTCTCCATGTCATCCAGGCTCTGGTCCTCCTCATCTTCTCCCTGGAGGCCCAAGAGTCCAGAATTGGCCTCCCAGTCTAGCCCCAGATCCATCACTGCCCAAATTGTCCCTTCTGTAGCCTCATTCTCCTAGCCACAATCACCCTCCACAGAGGTATTGAAGAAAAAAAAATTCTCCTGTCATCCATCTATCCATTTACTCAATCCATCTTTTCATCCACCAATCCAGGCAACCACCTACCCATCCATTCACCCAACCACTTATGCTTGGAACCATCTATCCGTCCATCCATTCATTTATCCATCTGCTTATCTCTCCATTCATCCATTTATCTTTCCATCCACTCATCGGTTCACTCACTCATTCCTCCACCCATTTGTCTTCCTTCTCTGCACCCATGTATCCACCCCTGTAGCTCTCCACCCATTCACTCAACTATTCACTCACGCTTGCACACCCATAAATACATGCATCTGTTCAGACATTTACCCAGCTACCTATTTATTCATCTTTCCATTGATCTACCCACCCATCCATTCATCAATTCATCCATCATCCTTCCATAGATATCTTTCCTCTGATGGTGTATCCGTCCATCATCTACCCTCTATCCACTGATTTTTCTCCTTCAATCATCTTCCCACCCATCCACTCACCCATTTATCCATCCTTTCACTTGTCCATCTGTTCCTCCATCCACTCACTCATTCATCCACCTGTTCATCCACTTACCTACCTTTTGACCTATCTATCCATCTACCTACCCACTCGCCTGGCTGTCTAGCCATTTATCCATGCATTCATTTTGCCACCAACAGTTATTCATTCTGGGAGCATGCCCTGGCGAGTATATAGTTATAAGGGTCATACAGATGTATGTGGTCCCCACTCCCAAGGAACTCACAGTCAAGAAACCACAACCCCTTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTN
pathogenic
302,627
Determine whether the variant at chromosome 19, position 35845482, in gene NPHS1 (NPHS1 adhesion molecule, nephrin) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
TTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGT
TTGACCCCACCTCTATTCACCAAAGGCTGGATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTN
pathogenic
302,636
Is chromosome 19, position 35845512, gene NPHS1 (NPHS1 adhesion molecule, nephrin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
ATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGT
ATCCTCACCAGTCTCTCCCAGTTGAACATGCCCGGGAGGATGGGATTGGCATCGACAGTGCAGACTATGTCCACAGAACCCCCGACGTTCACCTCAGTGGGGTCCTGGAGGGCACGGATGGTGGGAGCATCTGGTGGAAGGCAGAGGCTTGGGGAAGACACTTGGGCCCAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
pathogenic
302,637
Mutation at chromosome 19, position 35845680, within NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
CAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCT
CAGACAGGTCTGGGTGTGAGAGGGCCCCAGGTGGGAGGGATGTCTTAGGGGTTCCAGGAAAGTTATGGGTGTGGACACAATCTGCCCTTAATACCAAAGGGTTGGAGGAGAGTTCTCAAGGTTGGTGAGGTTGTCTCCACCCTCCACTATGCCTCTGTGATAATTAGAGTGAGTTGAGTGGGCTTCCAGAATTGTGTGTGTAGCAGGGCTTATACAGTGGGCTCTCATTCCTGACGGGAGCAGCTTCCGTGTCTAGGCGGGCACCCTCTCTGGGCAGAGATTCCACACTGGGTCTCTCTAGTGGGAGGGGTTCCGCAGTGGGCGTGGTTACACCGCGGCTGGGACTTCCAGAACGGGAGGGTTCCAGGATGGGTGGCTATCCCTGGGTGGGCGGAGCTCCCACAATGAGGAGACTCCACAATGGGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTN
pathogenic
302,639
Considering the variant on chromosome 19, location 35846103, involving gene NPHS1 (NPHS1 adhesion molecule, nephrin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
GGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACA
GGCAAGGTTCCTTGGGTGGGTGTGGTTTCCATGGTGGGCGGGGCTCACAGTGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCAC
pathogenic
302,646
Classify the chromosome 19 variant at position 35846153 affecting gene NPHS1 (NPHS1 adhesion molecule, nephrin) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
TGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCGACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTC
TGCACGTCCAGCCGCAGCCGCGCTTCCGCGGTGCCCTCAGAGTTCTGGCAGTGCAGCTGATAGAGGCCGTCGTCCGCGCGGGTCACATTCCACAGATGCAGAGCCCCGCTGGACAGGATGCGATGCCGGGGGCCGCCCGCTGGGGAAGGCCAGAATAAGGGACCTGGCAGGACCTCCCATCCCCGGGACCCCTCCCCATGACCACTTCCCTCACCTGGACTGAGGCGATAGCCGCGGAAGGTCCAGTTGAAGGCCTCGGGGGCGGGGTTAGCGGACACGGACACGGGCAGCAACGCCTCGCCCTGCTCCACCGCGGTCACCACCAGCACCTGCTCCCCCAGGAACTCTGGACGGTCTTCAGAGGGGGCGCCGCAGGGAGTCAAGATTGTTGTTAAGGTTAGGGTCAAGGACAGATTGGAGATCAGGCACAGGTTCAAGGGTTAAAGTTGGGGTCACGACGGGGTTTAAGGTTGTGGACAAGGTAACAAGTTCAGAGCTAAGCTCAGGGGTAAGGTTCGGGATAGAAGTTAGAATACAGTTTAGGAAAAGAGCAGAAGCCAGGGTCAGTTTGAAGGATGGAAACAGGAGTCATGAGGGGGGTTAGGAGAGAGGACAAATGCAAGATGGGAGGAGGCAGGATAGGAGTTGGCCCAGGACCACGGGTCAGGATGAAGGTCGGGAGTTTCAAGTTTCAGGATGGGGTTAATGATAGAGTGATAGTGTCAAAGCAAAGACCCAGGCCAGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCAAGGTGTTCAAGATCGGCCCGGGCAACATAGAGTAATGCCATCTCTATTTAAAATTAAAAGTACAAAAAATCAGCCTAGCATAGTGGCACGCGCCTGTAATCCCAGCACTTTGAGAGGCCAACGCAGGAGAACTGCTTGAGCCCAGGGGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCCGTTGCTACAAAAAGTAAAAATAAACTAGCGAAGCGTGGTAGCGCACACCTGTAGTCTCAGCTACTCGGGAGGCTGAGGTGGGAGTATCACTTGAGCTCAGGAGTTGGAGACTGCAGTGACCTATGATTGCGTCACTGCATTGCAGCCTGAGCGACAAAAAATGAAAGAGAGAGAGAGAGAGAAGAGAAAAAGAAGGAAAAAAAGGTAAGACCCAAGGAGTAGTTTAGGGTCAAGAAGGCATCGAGAGGGGCTTTCAGGCCGGGGCACATACACAGTACGTTGAGGCGATAGAAGGAGCTCACGGTTTCGCGGAGCTCGGCGCTGTGGGCGCGGCAGGTCACGCGCTGGCCATGATCGCGGGATGACACTTGCAGAAGGACGCTCCTGGCGGCGGCGGAGCCTTTGAATGGGGCTCTCCGGGGTGGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGTCAAGCCAGGGCTGCGAGCGGAGCCAGAGGCTGGAGAGGCACTAGGCGGGGGCGGGACATGCGTGGAGGGGGCGAGGCCAGACCAGAGAGGGGAGGGATCCCTCGCACTCCCACCTCTCCCCTTCCTTGTCCCAGGACAAGTTGACCGGCGGATTGCTGCTGACGCTGACGCATGTCAAGTTTAAGGCGTCTCCCGGGCGCAGTGCGGATGCGTTGGCCAGGATCGTCACGTTAGTTGGGGGAACTGGGAGACGGGGTTGGAGGAGCGAGACTCAGAGGTTAGGGGCGGCCTGGTCTGCGTCCACCCCGCCTGCACCCCAGGCTCCGCCCAGTCTCGGGTCCCCCACCCCGCCTCCGCCCGCTTTCCCCGGGTCCAGGGTTCGCTGGGTCCCTGCCCCACCTGGCTCTGTCCCTCCCGCCCCGCCCCCGGGCCTCAGCAGTGCGAGCCCTCACACTGCACCGCCAGCTGCGTGGACGCGCTGAGCTGTCCAGCCTTGCACGTGAACTTGGCCTGGTTGTCCGACGGCCCTGTGACCAGCACCAGCTCTCGGGAGAAGGTGCTCCCAGATTTCTCCACGCTGCCGAGATGCACGCGCCGCACTCCTGCGGCAGCCGCGACTCGGTCACGGTGCGCGAGTCCTACGGGCCGGGAGTGACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCN
pathogenic
302,648
Is the genetic change at chromosome 19, position 35848259, within gene NPHS1 (NPHS1 adhesion molecule, nephrin) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
ACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTG
ACTGGGGTTCGCAGGCAGCCCTGCCGCTTCCACCAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTC
pathogenic
302,657
Clinical significance of chromosome 19, position 35848292, gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
CAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTT
CAACCCCCAACCCCCCTACCCTGCCCACTGGGTTGGTGCCGCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTN
pathogenic
302,659
Benign or pathogenic: chromosome 19, position 35848332, gene NPHS1 (NPHS1 adhesion molecule, nephrin) variant? Disease(s) if pathogenic?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
GCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCA
GCCAGCCCAAACAAAGCCTTTTTCTGATAAGGAGAAGCACTCTCATCAGCACCACCCCCCTAGGGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCAN
pathogenic
302,660
Variant chromosome 19, position 35848395, gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? Disease(s)?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
GGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTC
GGCAAAGCAGTGGGGAGTGGAACTGAGTGACCCCCTCCCTGGAGTCTCTCCCGCCTCCCCGAGTCCCTGTGCATGGCAGTTTTGGGGATCTGAATCCGCCTTCTGTCCCACACCCAACTCCTGCTCTGCCTCTGCAGCCACCTGCAGGCTCTCAGCGCACTCCTCAAAATCTATTTCTGCTGTGTTTACCCAACACCACCTGCAGGAAACTCCCTTGAAATTCCCAGGCCTTTCCCAGAGTTCCTCAGTTCCTTTTCTTAAAATTCCTGCTGTCCCCAAAGATTTCCTTTGAAATTTTCCTTAATTCCAGTGTCTTTCCATAGATTACTTCCTTTTTTTATTATTGCTGCTGCACAAATTAAACTTTCCATAGATTTCTGAATCTTTCCCGATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCN
pathogenic
302,665
Variant on chromosome 19, at position 35848786, affecting NPHS1 (NPHS1 adhesion molecule, nephrin): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
ATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCT
ATATTATAATATCTTATGATCCCAGTCTTTTAACAGATTCCTTTGTATTGCCCAGATTCTCAGCACTTCCCCAGAATTCCATCCAATTAAAATAAAATTCCATTGTCATTTCTATAATTTCTAGTCTTCCCCCCAAAGTTTTCAACTAGCTCCCTAATTCCCAGGATTCTCCTAGAATTCTATTAGGCTTCTCTTTCATTTTAATGAAATTTCATTTTCTTGCCTCCAAATCCCAAGAGTTCAGTTTAATACTAATGAATTTCCGATAGTCTGTGGAATTACTAGCTTTTCTCCAAATTTTCTTTTCTTTTCTTTTCTTTTTTTTTGAGACGGAGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTN
pathogenic
302,677
Regarding the variant found on chromosome 19 at position 35849228 in gene NPHS1 (NPHS1 adhesion molecule, nephrin): is it benign or pathogenic? If pathogenic, identify the disease(s).
benign
GGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGG
GGACTACAGGCACCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAG
benign
302,692
The mutation in gene NPHS1 (NPHS1 adhesion molecule, nephrin) at chromosome 19, position 35849259—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
AATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCA
AATTTTTTGTATTTTTAGTAGAGACGGAGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTCACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCAN
pathogenic
302,694
Chromosome 19, position 35849346, gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGG
GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGGTCTCGTTGCCCAGACTGGAGTGCAGTGGCACAACCTCGGCTCACCACAACCTGGGCCTCCCGGATTCAAGCAATTCTCCAGCCTCAGCCTCTCCAGTAGCTGGGATTACAGGCCCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGNN
pathogenic
302,701
Is the genetic mutation found on chromosome 19 at position 35849590, within the gene NPHS1 (NPHS1 adhesion molecule, nephrin), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
GACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCG
GACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCTAACTCCCGACTTCAGGTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCC
pathogenic
302,707
Evaluate this variant at chromosome 19, position 35849640, gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
GTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGC
GTGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCN
pathogenic
302,708
A mutation at chromosome position 35849641 on chromosome 19 in gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Finnish_congenital_nephrotic_syndrome', 'Nephrotic_syndrome']
TGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCG
TGATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTAATCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGNNNNNN
pathogenic
302,709
Variant at chromosome 19, position 35849642, gene NPHS1 (NPHS1 adhesion molecule, nephrin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['Finnish_congenital_nephrotic_syndrome', 'NPHS1-related_disorder', 'Nephrotic_syndrome']
GATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGG
GATCCGTCTACCTCGGCCTCCTAAAGTGCTTGGATTACAGGCGTGAGCCACTGTGCCCAGCCAAATTTTACAGCATTGTTTTTTTTTTTTTTCTGGGATTCAAGTCTTTCCCTAAAATTCCTGACATTTCACCTGAATTCTGAGGGTTTTCACTAGAATTTTCTTTAATTTTAATGAAATTACCTTTTCTCTAGAATGCCTAATCTTGATTCAGAATTCCAATTTTTATCCTAAAATTCTCACTGTTTCCCCAGAATTTTCCTAGGATTCCATTTAATTCTCATAGCATTTGTGTCTTTCCTGATTCCCTGCCAAACCTCAGAATCTTTAGTACTTTTCAAGAAATTTAATCTTTTTCCAAGATTGCCCAAGATTCTGAAGGAGAGAAGGGGCCTGGTCCTTCCCCCACATTCCTGGCCACCCCCATAGCCCTGGCGTGGCACCAACCTTGTACCACATGAGGGAGGGCTCTGGGTTGCCCCCGATAGCCAAACACACCAGCCTCACCCGGGTCCCAGCCCGGAGCTTCTGGCCCTCTGGGGGACCCTCAATCCACAGTTTCTGGGCGGGATCTGGCGGGGAGAGGAAGGAAGAATGACTTTTTCTCTGTGCTGGGTCCTGAGGCTTGGGGGCATTGCTGGGCCAGGGCAGGGGCTCACATTTTACGTTCAGGATGAGCGACTTCTTGAAGGTCTCCTTGGTGAAGGCTTCACTGAAGGCCTCACATGTGAGGGTCAGACCGTTGTCCTCCCGCCGCGCCAGGAATGTCAGGTTGGACATGGAGATGTGACCGCCATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGGN
pathogenic
302,710
The chromosome 19, position 35850437 genetic variant in gene NPHS1 (NPHS1 adhesion molecule, nephrin): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
ATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGGTGCAAGGAAAGGGCAGAGGGTTTGTCTAGGGAAGGTAAGTGGGAAATGGGGGCCACTTGGCGCTGGGTACAAGGCTGGGATCCCACTCACCTTCAGTCAGCAGCCCCAGGAGCAGGAGAGAAGCCCTGAGCGTCGTCCCCAGGGCCATCACAGGTCCCCCTACTGTGACCCCCACAGCGCCCGCTGCCAGCCACCTGCGTCTGTCTGGCTTTCTCTGGGTCCCTCTCTGTGTGTCTCTGCCACCTGCTTTTCTTTTTTATCTCTTTCCGTTACTCTCCTCCCTTTCTCGTTTTCCTCTTCCCCTCTTCCCTGTGAGTATCTCTCTCTGTCTTGCTCTCAGTCTCAATCTCTGAGTCTCTTTCTCTGTCTCTTTAAAAAAACTTTTTTTTCTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTTAGAGACGGGGTCTCACTATGTTGGCCAGGTTGATCTCAGACTCTTTCCTTCAAGCCATCCTCCCACCTTGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGTCTCTTTATCTTTCCATCTTTCTCTCCTTGTCTAAGCCGTTCTCTCTCCTTTTGTCTCTGTCTCTTCCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCAATCTCTATCTTCTCTCCTGCCACCCCTCACTCCTGCTCCTTGTCTCACTACTCACAGCCTTTCAAGAAGGACCTGCAGCCCAGAGTCCAGCAGGCCAGGAGCCTAGGAGAGCGATGAGGCTGATGCAGGCACTGGCAGAGTCAGCCCTGCTCTCTGA
ATGCAGTCCCTGGCAGGGAGTGAGCTTCAGACGTGGGGACTGCAGCACCCCTATCCATCGTGCTAGAGGCCTGAGTCCATCCCAGTCCCCAGCAGGGACACAGGAGACATCTCTACCTCCCCCTCTGTTGGACCCATGGTCCTCAAGGAGAAAGCCCCCCAGGCTGCTGGACCCACCCCTTCCCTATCCACGAGTCATGCCCTCAGCCCCCTCCATGCTCAGACCCAGGAGCCTGGCCCCCGCCTCACATCCATGACTGTCTCCTCCATGGGCAGCAGCTGCCGCCAGCCCAGCCACCATCGTAGCAGAACCCGCGGGCGACTGGACTTGCTGACACAGGAGAGTGTCACGTTCTTGTTCTCAGTCTGGGATGCAGATCCCAAGATAATAATGGCACTAGGGGGAACTGCAGGGACAGAGAAGGAAGACACTAAGCTGGGCTGGATTTCTCACAGACCAGCCCAGACAGAACAGGACTGGAGACAGATGCTGAGATCTTTGGCATCCAGTAGGCATAATTTGGGGGCACACACAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGGTGCAAGGAAAGGGCAGAGGGTTTGTCTAGGGAAGGTAAGTGGGAAATGGGGGCCACTTGGCGCTGGGTACAAGGCTGGGATCCCACTCACCTTCAGTCAGCAGCCCCAGGAGCAGGAGAGAAGCCCTGAGCGTCGTCCCCAGGGCCATCACAGGTCCCCCTACTGTGACCCCCACAGCGCCCGCTGCCAGCCACCTGCGTCTGTCTGGCTTTCTCTGGGTCCCTCTCTGTGTGTCTCTGCCACCTGCTTTTCTTTTTTATCTCTTTCCGTTACTCTCCTCCCTTTCTCGTTTTCCTCTTCCCCTCTTCCCTGTGAGTATCTCTCTCTGTCTTGCTCTCAGTCTCAATCTCTGAGTCTCTTTCTCTGTCTCTTTAAAAAAACTTTTTTTTCTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTTAGAGACGGGGTCTCACTATGTTGGCCAGGTTGATCTCAGACTCTTTCCTTCAAGCCATCCTCCCACCTTGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGTCTCTTTATCTTTCCATCTTTCTCTCCTTGTCTAAGCCGTTCTCTCTCCTTTTGTCTCTGTCTCTTCCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCAATCTCTATCTTCTCTCCTGCCACCCCTCACTCCTGCTCCTTGTCTCACTACTCACAGCCTTTCAAGAAGGACCTGCAGCCCAGAGTCCAGCAGGCCAGGAGCCTAGGAGAGCGATGAGGCTGATGCAGGCACTGGCAGAGTCAGCCCTGCTCTCTGAN
pathogenic
302,717
The mutation in gene NPHS1 (NPHS1 adhesion molecule, nephrin) at chromosome 19, position 35850969—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome', 'Nephrotic_syndrome']
CAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGGTGCAAGGAAAGGGCAGAGGGTTTGTCTAGGGAAGGTAAGTGGGAAATGGGGGCCACTTGGCGCTGGGTACAAGGCTGGGATCCCACTCACCTTCAGTCAGCAGCCCCAGGAGCAGGAGAGAAGCCCTGAGCGTCGTCCCCAGGGCCATCACAGGTCCCCCTACTGTGACCCCCACAGCGCCCGCTGCCAGCCACCTGCGTCTGTCTGGCTTTCTCTGGGTCCCTCTCTGTGTGTCTCTGCCACCTGCTTTTCTTTTTTATCTCTTTCCGTTACTCTCCTCCCTTTCTCGTTTTCCTCTTCCCCTCTTCCCTGTGAGTATCTCTCTCTGTCTTGCTCTCAGTCTCAATCTCTGAGTCTCTTTCTCTGTCTCTTTAAAAAAACTTTTTTTTCTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTTAGAGACGGGGTCTCACTATGTTGGCCAGGTTGATCTCAGACTCTTTCCTTCAAGCCATCCTCCCACCTTGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGTCTCTTTATCTTTCCATCTTTCTCTCCTTGTCTAAGCCGTTCTCTCTCCTTTTGTCTCTGTCTCTTCCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCAATCTCTATCTTCTCTCCTGCCACCCCTCACTCCTGCTCCTTGTCTCACTACTCACAGCCTTTCAAGAAGGACCTGCAGCCCAGAGTCCAGCAGGCCAGGAGCCTAGGAGAGCGATGAGGCTGATGCAGGCACTGGCAGAGTCAGCCCTGCTCTCTGACCCAGCTTGAGCTCATTCTCACAGTGCAACCTCCCCCAGGTACCTTCCAGAGCCCCCAGCTCTGGCCTCTGCCCAGCAGGCTCCTCCCAGCTGGCCCAGCTGGAGCATAAAATCCCCTGTCAGCACATGCCAGGCGCGTTCCTCGGTGCCTCCCCAGCCTCCGTGACCCCAGGGCCTGGCTTAGGCTGGGAAGATGGGAGAAGTCAGATCAAGGTGGTCTCCCAGCTCAGCAGGGGAGCAGCCAGCTGGGCCCCCAGCTCTTCCTTGCCCTGATACATGACCTTGGCAAGTCTCTTTCTTTCTTTCTTTCTTTTCTTGAGATAGTCTTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATCTCGGCTCACTGCAACTTCCACCTCCCATGGCTTGAACCTCCCAGGTTCAAGTAATTCTCCCACCTCTGTCTCCCAAGTAGCTGGTGCTACAGGTATATAGCACCATGCCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTCATCATGTTGGCCACGCTGGTCTCGA
CAGATGGTTCTCTGAGGCACAGACCGACAGGGGGGCAGCTGGCACCAGGACTCACAGGTGACCTGCAGTGTGATGCCGTGCTCCTGGGTCCCTGCAGACACGCTGTTGTGGGCCTCGCAGCTGAGCTGCGCTCCATGGTCTTCTGGCCTCACGGTCATCACCAGCACACTGCGGGCCACCGCCTGGGTGTGCTCTGTGCCCCACGCTGTGGACACCGGCTGGCCATTCTGGAGACAGGGACAGGCCTGGGCCAGCTCAGGACTGGCTCCCAGACCCCACTGTCCCCCCATTCCCCATGCCCGCGTTTGCCCTCACCTTCAGCCACTGCAGTGTGGCTAAGGGATTACCCCCTCGGGCCACGCACGGCAGCTCCAAGCTCTGTCCTGCCCGCACGTGCCCCTCATCCAGGCCTGGCCACTCGATGACAGGGGGTCCTGGAGGGACTGGGGGATATCAGTCACTCAGTGGGCCTGGAGTAGCCCATCCACTCTTTCCAGGCCCCACAACCTGCCTTTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGGTGCAAGGAAAGGGCAGAGGGTTTGTCTAGGGAAGGTAAGTGGGAAATGGGGGCCACTTGGCGCTGGGTACAAGGCTGGGATCCCACTCACCTTCAGTCAGCAGCCCCAGGAGCAGGAGAGAAGCCCTGAGCGTCGTCCCCAGGGCCATCACAGGTCCCCCTACTGTGACCCCCACAGCGCCCGCTGCCAGCCACCTGCGTCTGTCTGGCTTTCTCTGGGTCCCTCTCTGTGTGTCTCTGCCACCTGCTTTTCTTTTTTATCTCTTTCCGTTACTCTCCTCCCTTTCTCGTTTTCCTCTTCCCCTCTTCCCTGTGAGTATCTCTCTCTGTCTTGCTCTCAGTCTCAATCTCTGAGTCTCTTTCTCTGTCTCTTTAAAAAAACTTTTTTTTCTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTTAGAGACGGGGTCTCACTATGTTGGCCAGGTTGATCTCAGACTCTTTCCTTCAAGCCATCCTCCCACCTTGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGTCTCTTTATCTTTCCATCTTTCTCTCCTTGTCTAAGCCGTTCTCTCTCCTTTTGTCTCTGTCTCTTCCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCAATCTCTATCTTCTCTCCTGCCACCCCTCACTCCTGCTCCTTGTCTCACTACTCACAGCCTTTCAAGAAGGACCTGCAGCCCAGAGTCCAGCAGGCCAGGAGCCTAGGAGAGCGATGAGGCTGATGCAGGCACTGGCAGAGTCAGCCCTGCTCTCTGACCCAGCTTGAGCTCATTCTCACAGTGCAACCTCCCCCAGGTACCTTCCAGAGCCCCCAGCTCTGGCCTCTGCCCAGCAGGCTCCTCCCAGCTGGCCCAGCTGGAGCATAAAATCCCCTGTCAGCACATGCCAGGCGCGTTCCTCGGTGCCTCCCCAGCCTCCGTGACCCCAGGGCCTGGCTTAGGCTGGGAAGATGGGAGAAGTCAGATCAAGGTGGTCTCCCAGCTCAGCAGGGGAGCAGCCAGCTGGGCCCCCAGCTCTTCCTTGCCCTGATACATGACCTTGGCAAGTCTCTTTCTTTCTTTCTTTCTTTTCTTGAGATAGTCTTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATCTCGGCTCACTGCAACTTCCACCTCCCATGGCTTGAACCTCCCAGGTTCAAGTAATTCTCCCACCTCTGTCTCCCAAGTAGCTGGTGCTACAGGTATATAGCACCATGCCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTCATCATGTTGGCCACGCTGGTCTCGANNN
pathogenic
302,721
Clinically, how would you classify the variant at chromosome 19, position 35851482, gene NPHS1: benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
TTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGGTGCAAGGAAAGGGCAGAGGGTTTGTCTAGGGAAGGTAAGTGGGAAATGGGGGCCACTTGGCGCTGGGTACAAGGCTGGGATCCCACTCACCTTCAGTCAGCAGCCCCAGGAGCAGGAGAGAAGCCCTGAGCGTCGTCCCCAGGGCCATCACAGGTCCCCCTACTGTGACCCCCACAGCGCCCGCTGCCAGCCACCTGCGTCTGTCTGGCTTTCTCTGGGTCCCTCTCTGTGTGTCTCTGCCACCTGCTTTTCTTTTTTATCTCTTTCCGTTACTCTCCTCCCTTTCTCGTTTTCCTCTTCCCCTCTTCCCTGTGAGTATCTCTCTCTGTCTTGCTCTCAGTCTCAATCTCTGAGTCTCTTTCTCTGTCTCTTTAAAAAAACTTTTTTTTCTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTTAGAGACGGGGTCTCACTATGTTGGCCAGGTTGATCTCAGACTCTTTCCTTCAAGCCATCCTCCCACCTTGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGTCTCTTTATCTTTCCATCTTTCTCTCCTTGTCTAAGCCGTTCTCTCTCCTTTTGTCTCTGTCTCTTCCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCAATCTCTATCTTCTCTCCTGCCACCCCTCACTCCTGCTCCTTGTCTCACTACTCACAGCCTTTCAAGAAGGACCTGCAGCCCAGAGTCCAGCAGGCCAGGAGCCTAGGAGAGCGATGAGGCTGATGCAGGCACTGGCAGAGTCAGCCCTGCTCTCTGACCCAGCTTGAGCTCATTCTCACAGTGCAACCTCCCCCAGGTACCTTCCAGAGCCCCCAGCTCTGGCCTCTGCCCAGCAGGCTCCTCCCAGCTGGCCCAGCTGGAGCATAAAATCCCCTGTCAGCACATGCCAGGCGCGTTCCTCGGTGCCTCCCCAGCCTCCGTGACCCCAGGGCCTGGCTTAGGCTGGGAAGATGGGAGAAGTCAGATCAAGGTGGTCTCCCAGCTCAGCAGGGGAGCAGCCAGCTGGGCCCCCAGCTCTTCCTTGCCCTGATACATGACCTTGGCAAGTCTCTTTCTTTCTTTCTTTCTTTTCTTGAGATAGTCTTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATCTCGGCTCACTGCAACTTCCACCTCCCATGGCTTGAACCTCCCAGGTTCAAGTAATTCTCCCACCTCTGTCTCCCAAGTAGCTGGTGCTACAGGTATATAGCACCATGCCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTCATCATGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGACATGAGCCACCGCACCTGGCCTCCCTTCCTTTTTTAGTAGACATCAGTGCCTAAATGATGTCAGGGATCTCTGCTGGGGAGGATGCAAGAGTGAGTGTGACAGGCTGGGAGAGTGTGGGAGAGAGGGAAGATATGCATGTGTGTACGTGGGTGTGAGAGTGGGGAAGGTTAGAGTGAACTGCGATCTGTAATAAGCATGTGGAGAGCGTGTGTGTGACAGTGTCTTACGTGGGAGTGCACAGGGTGTGGGCGGGAGTAAAAGGCAGAGTCCAATTCCACCGGCCCCCAGTGTGGGTGCAGTGTGAGCCCAAAGTGGGCGCCCTTTGGCAAGGACTGCATGAGCTTTCTTCTCCCTCTTTTTCTTGCCCTCTCTCCCATCTCTTCTTTCCTTCTCCATGTCTCTCTCTCTCCCTCCCTCTATCTATCTTGATTTATCTTTCTTTCTTTTGAGATGGA
TTGAACCCCCATGTTTCTCTGAGTGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGGTGCAAGGAAAGGGCAGAGGGTTTGTCTAGGGAAGGTAAGTGGGAAATGGGGGCCACTTGGCGCTGGGTACAAGGCTGGGATCCCACTCACCTTCAGTCAGCAGCCCCAGGAGCAGGAGAGAAGCCCTGAGCGTCGTCCCCAGGGCCATCACAGGTCCCCCTACTGTGACCCCCACAGCGCCCGCTGCCAGCCACCTGCGTCTGTCTGGCTTTCTCTGGGTCCCTCTCTGTGTGTCTCTGCCACCTGCTTTTCTTTTTTATCTCTTTCCGTTACTCTCCTCCCTTTCTCGTTTTCCTCTTCCCCTCTTCCCTGTGAGTATCTCTCTCTGTCTTGCTCTCAGTCTCAATCTCTGAGTCTCTTTCTCTGTCTCTTTAAAAAAACTTTTTTTTCTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTTAGAGACGGGGTCTCACTATGTTGGCCAGGTTGATCTCAGACTCTTTCCTTCAAGCCATCCTCCCACCTTGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGTCTCTTTATCTTTCCATCTTTCTCTCCTTGTCTAAGCCGTTCTCTCTCCTTTTGTCTCTGTCTCTTCCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCAATCTCTATCTTCTCTCCTGCCACCCCTCACTCCTGCTCCTTGTCTCACTACTCACAGCCTTTCAAGAAGGACCTGCAGCCCAGAGTCCAGCAGGCCAGGAGCCTAGGAGAGCGATGAGGCTGATGCAGGCACTGGCAGAGTCAGCCCTGCTCTCTGACCCAGCTTGAGCTCATTCTCACAGTGCAACCTCCCCCAGGTACCTTCCAGAGCCCCCAGCTCTGGCCTCTGCCCAGCAGGCTCCTCCCAGCTGGCCCAGCTGGAGCATAAAATCCCCTGTCAGCACATGCCAGGCGCGTTCCTCGGTGCCTCCCCAGCCTCCGTGACCCCAGGGCCTGGCTTAGGCTGGGAAGATGGGAGAAGTCAGATCAAGGTGGTCTCCCAGCTCAGCAGGGGAGCAGCCAGCTGGGCCCCCAGCTCTTCCTTGCCCTGATACATGACCTTGGCAAGTCTCTTTCTTTCTTTCTTTCTTTTCTTGAGATAGTCTTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATCTCGGCTCACTGCAACTTCCACCTCCCATGGCTTGAACCTCCCAGGTTCAAGTAATTCTCCCACCTCTGTCTCCCAAGTAGCTGGTGCTACAGGTATATAGCACCATGCCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTCATCATGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGACATGAGCCACCGCACCTGGCCTCCCTTCCTTTTTTAGTAGACATCAGTGCCTAAATGATGTCAGGGATCTCTGCTGGGGAGGATGCAAGAGTGAGTGTGACAGGCTGGGAGAGTGTGGGAGAGAGGGAAGATATGCATGTGTGTACGTGGGTGTGAGAGTGGGGAAGGTTAGAGTGAACTGCGATCTGTAATAAGCATGTGGAGAGCGTGTGTGTGACAGTGTCTTACGTGGGAGTGCACAGGGTGTGGGCGGGAGTAAAAGGCAGAGTCCAATTCCACCGGCCCCCAGTGTGGGTGCAGTGTGAGCCCAAAGTGGGCGCCCTTTGGCAAGGACTGCATGAGCTTTCTTCTCCCTCTTTTTCTTGCCCTCTCTCCCATCTCTTCTTTCCTTCTCCATGTCTCTCTCTCTCCCTCCCTCTATCTATCTTGATTTATCTTTCTTTCTTTTGAGATGG
pathogenic
302,743
For chromosome 19, position 35851505, gene NPHS1: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
TGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGGTGCAAGGAAAGGGCAGAGGGTTTGTCTAGGGAAGGTAAGTGGGAAATGGGGGCCACTTGGCGCTGGGTACAAGGCTGGGATCCCACTCACCTTCAGTCAGCAGCCCCAGGAGCAGGAGAGAAGCCCTGAGCGTCGTCCCCAGGGCCATCACAGGTCCCCCTACTGTGACCCCCACAGCGCCCGCTGCCAGCCACCTGCGTCTGTCTGGCTTTCTCTGGGTCCCTCTCTGTGTGTCTCTGCCACCTGCTTTTCTTTTTTATCTCTTTCCGTTACTCTCCTCCCTTTCTCGTTTTCCTCTTCCCCTCTTCCCTGTGAGTATCTCTCTCTGTCTTGCTCTCAGTCTCAATCTCTGAGTCTCTTTCTCTGTCTCTTTAAAAAAACTTTTTTTTCTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTTAGAGACGGGGTCTCACTATGTTGGCCAGGTTGATCTCAGACTCTTTCCTTCAAGCCATCCTCCCACCTTGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGTCTCTTTATCTTTCCATCTTTCTCTCCTTGTCTAAGCCGTTCTCTCTCCTTTTGTCTCTGTCTCTTCCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCAATCTCTATCTTCTCTCCTGCCACCCCTCACTCCTGCTCCTTGTCTCACTACTCACAGCCTTTCAAGAAGGACCTGCAGCCCAGAGTCCAGCAGGCCAGGAGCCTAGGAGAGCGATGAGGCTGATGCAGGCACTGGCAGAGTCAGCCCTGCTCTCTGACCCAGCTTGAGCTCATTCTCACAGTGCAACCTCCCCCAGGTACCTTCCAGAGCCCCCAGCTCTGGCCTCTGCCCAGCAGGCTCCTCCCAGCTGGCCCAGCTGGAGCATAAAATCCCCTGTCAGCACATGCCAGGCGCGTTCCTCGGTGCCTCCCCAGCCTCCGTGACCCCAGGGCCTGGCTTAGGCTGGGAAGATGGGAGAAGTCAGATCAAGGTGGTCTCCCAGCTCAGCAGGGGAGCAGCCAGCTGGGCCCCCAGCTCTTCCTTGCCCTGATACATGACCTTGGCAAGTCTCTTTCTTTCTTTCTTTCTTTTCTTGAGATAGTCTTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATCTCGGCTCACTGCAACTTCCACCTCCCATGGCTTGAACCTCCCAGGTTCAAGTAATTCTCCCACCTCTGTCTCCCAAGTAGCTGGTGCTACAGGTATATAGCACCATGCCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTCATCATGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGACATGAGCCACCGCACCTGGCCTCCCTTCCTTTTTTAGTAGACATCAGTGCCTAAATGATGTCAGGGATCTCTGCTGGGGAGGATGCAAGAGTGAGTGTGACAGGCTGGGAGAGTGTGGGAGAGAGGGAAGATATGCATGTGTGTACGTGGGTGTGAGAGTGGGGAAGGTTAGAGTGAACTGCGATCTGTAATAAGCATGTGGAGAGCGTGTGTGTGACAGTGTCTTACGTGGGAGTGCACAGGGTGTGGGCGGGAGTAAAAGGCAGAGTCCAATTCCACCGGCCCCCAGTGTGGGTGCAGTGTGAGCCCAAAGTGGGCGCCCTTTGGCAAGGACTGCATGAGCTTTCTTCTCCCTCTTTTTCTTGCCCTCTCTCCCATCTCTTCTTTCCTTCTCCATGTCTCTCTCTCTCCCTCCCTCTATCTATCTTGATTTATCTTTCTTTCTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTG
TGCCTGAATTTCCATAATCCCTGTGATCCCCCCACACCCCCCAGTGCCTGCTCCCCATCCTCAGCGCCCTAGTTGGCCCAGTTCTCCACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGGTGCAAGGAAAGGGCAGAGGGTTTGTCTAGGGAAGGTAAGTGGGAAATGGGGGCCACTTGGCGCTGGGTACAAGGCTGGGATCCCACTCACCTTCAGTCAGCAGCCCCAGGAGCAGGAGAGAAGCCCTGAGCGTCGTCCCCAGGGCCATCACAGGTCCCCCTACTGTGACCCCCACAGCGCCCGCTGCCAGCCACCTGCGTCTGTCTGGCTTTCTCTGGGTCCCTCTCTGTGTGTCTCTGCCACCTGCTTTTCTTTTTTATCTCTTTCCGTTACTCTCCTCCCTTTCTCGTTTTCCTCTTCCCCTCTTCCCTGTGAGTATCTCTCTCTGTCTTGCTCTCAGTCTCAATCTCTGAGTCTCTTTCTCTGTCTCTTTAAAAAAACTTTTTTTTCTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTTAGAGACGGGGTCTCACTATGTTGGCCAGGTTGATCTCAGACTCTTTCCTTCAAGCCATCCTCCCACCTTGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGTCTCTTTATCTTTCCATCTTTCTCTCCTTGTCTAAGCCGTTCTCTCTCCTTTTGTCTCTGTCTCTTCCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCAATCTCTATCTTCTCTCCTGCCACCCCTCACTCCTGCTCCTTGTCTCACTACTCACAGCCTTTCAAGAAGGACCTGCAGCCCAGAGTCCAGCAGGCCAGGAGCCTAGGAGAGCGATGAGGCTGATGCAGGCACTGGCAGAGTCAGCCCTGCTCTCTGACCCAGCTTGAGCTCATTCTCACAGTGCAACCTCCCCCAGGTACCTTCCAGAGCCCCCAGCTCTGGCCTCTGCCCAGCAGGCTCCTCCCAGCTGGCCCAGCTGGAGCATAAAATCCCCTGTCAGCACATGCCAGGCGCGTTCCTCGGTGCCTCCCCAGCCTCCGTGACCCCAGGGCCTGGCTTAGGCTGGGAAGATGGGAGAAGTCAGATCAAGGTGGTCTCCCAGCTCAGCAGGGGAGCAGCCAGCTGGGCCCCCAGCTCTTCCTTGCCCTGATACATGACCTTGGCAAGTCTCTTTCTTTCTTTCTTTCTTTTCTTGAGATAGTCTTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATCTCGGCTCACTGCAACTTCCACCTCCCATGGCTTGAACCTCCCAGGTTCAAGTAATTCTCCCACCTCTGTCTCCCAAGTAGCTGGTGCTACAGGTATATAGCACCATGCCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTCATCATGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGACATGAGCCACCGCACCTGGCCTCCCTTCCTTTTTTAGTAGACATCAGTGCCTAAATGATGTCAGGGATCTCTGCTGGGGAGGATGCAAGAGTGAGTGTGACAGGCTGGGAGAGTGTGGGAGAGAGGGAAGATATGCATGTGTGTACGTGGGTGTGAGAGTGGGGAAGGTTAGAGTGAACTGCGATCTGTAATAAGCATGTGGAGAGCGTGTGTGTGACAGTGTCTTACGTGGGAGTGCACAGGGTGTGGGCGGGAGTAAAAGGCAGAGTCCAATTCCACCGGCCCCCAGTGTGGGTGCAGTGTGAGCCCAAAGTGGGCGCCCTTTGGCAAGGACTGCATGAGCTTTCTTCTCCCTCTTTTTCTTGCCCTCTCTCCCATCTCTTCTTTCCTTCTCCATGTCTCTCTCTCTCCCTCCCTCTATCTATCTTGATTTATCTTTCTTTCTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGN
pathogenic
302,745
Variant in NPHS1, chromosome 19, position 35851591—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Finnish_congenital_nephrotic_syndrome', 'Infantile_Nephrotic_syndrome', 'Nephrotic_syndrome']
CACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGGTGCAAGGAAAGGGCAGAGGGTTTGTCTAGGGAAGGTAAGTGGGAAATGGGGGCCACTTGGCGCTGGGTACAAGGCTGGGATCCCACTCACCTTCAGTCAGCAGCCCCAGGAGCAGGAGAGAAGCCCTGAGCGTCGTCCCCAGGGCCATCACAGGTCCCCCTACTGTGACCCCCACAGCGCCCGCTGCCAGCCACCTGCGTCTGTCTGGCTTTCTCTGGGTCCCTCTCTGTGTGTCTCTGCCACCTGCTTTTCTTTTTTATCTCTTTCCGTTACTCTCCTCCCTTTCTCGTTTTCCTCTTCCCCTCTTCCCTGTGAGTATCTCTCTCTGTCTTGCTCTCAGTCTCAATCTCTGAGTCTCTTTCTCTGTCTCTTTAAAAAAACTTTTTTTTCTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTTAGAGACGGGGTCTCACTATGTTGGCCAGGTTGATCTCAGACTCTTTCCTTCAAGCCATCCTCCCACCTTGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGTCTCTTTATCTTTCCATCTTTCTCTCCTTGTCTAAGCCGTTCTCTCTCCTTTTGTCTCTGTCTCTTCCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCAATCTCTATCTTCTCTCCTGCCACCCCTCACTCCTGCTCCTTGTCTCACTACTCACAGCCTTTCAAGAAGGACCTGCAGCCCAGAGTCCAGCAGGCCAGGAGCCTAGGAGAGCGATGAGGCTGATGCAGGCACTGGCAGAGTCAGCCCTGCTCTCTGACCCAGCTTGAGCTCATTCTCACAGTGCAACCTCCCCCAGGTACCTTCCAGAGCCCCCAGCTCTGGCCTCTGCCCAGCAGGCTCCTCCCAGCTGGCCCAGCTGGAGCATAAAATCCCCTGTCAGCACATGCCAGGCGCGTTCCTCGGTGCCTCCCCAGCCTCCGTGACCCCAGGGCCTGGCTTAGGCTGGGAAGATGGGAGAAGTCAGATCAAGGTGGTCTCCCAGCTCAGCAGGGGAGCAGCCAGCTGGGCCCCCAGCTCTTCCTTGCCCTGATACATGACCTTGGCAAGTCTCTTTCTTTCTTTCTTTCTTTTCTTGAGATAGTCTTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATCTCGGCTCACTGCAACTTCCACCTCCCATGGCTTGAACCTCCCAGGTTCAAGTAATTCTCCCACCTCTGTCTCCCAAGTAGCTGGTGCTACAGGTATATAGCACCATGCCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTCATCATGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGACATGAGCCACCGCACCTGGCCTCCCTTCCTTTTTTAGTAGACATCAGTGCCTAAATGATGTCAGGGATCTCTGCTGGGGAGGATGCAAGAGTGAGTGTGACAGGCTGGGAGAGTGTGGGAGAGAGGGAAGATATGCATGTGTGTACGTGGGTGTGAGAGTGGGGAAGGTTAGAGTGAACTGCGATCTGTAATAAGCATGTGGAGAGCGTGTGTGTGACAGTGTCTTACGTGGGAGTGCACAGGGTGTGGGCGGGAGTAAAAGGCAGAGTCCAATTCCACCGGCCCCCAGTGTGGGTGCAGTGTGAGCCCAAAGTGGGCGCCCTTTGGCAAGGACTGCATGAGCTTTCTTCTCCCTCTTTTTCTTGCCCTCTCTCCCATCTCTTCTTTCCTTCTCCATGTCTCTCTCTCTCCCTCCCTCTATCTATCTTGATTTATCTTTCTTTCTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGGGCAGTGGCATGATCTTGGTTCATTGCAGCCTCAACTTCCTGGGCTCAGGTGATCCTCCTGCCTCAGCCTCCTGAATAGCTGG
CACTTACACAGAACATTCACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGGTGCAAGGAAAGGGCAGAGGGTTTGTCTAGGGAAGGTAAGTGGGAAATGGGGGCCACTTGGCGCTGGGTACAAGGCTGGGATCCCACTCACCTTCAGTCAGCAGCCCCAGGAGCAGGAGAGAAGCCCTGAGCGTCGTCCCCAGGGCCATCACAGGTCCCCCTACTGTGACCCCCACAGCGCCCGCTGCCAGCCACCTGCGTCTGTCTGGCTTTCTCTGGGTCCCTCTCTGTGTGTCTCTGCCACCTGCTTTTCTTTTTTATCTCTTTCCGTTACTCTCCTCCCTTTCTCGTTTTCCTCTTCCCCTCTTCCCTGTGAGTATCTCTCTCTGTCTTGCTCTCAGTCTCAATCTCTGAGTCTCTTTCTCTGTCTCTTTAAAAAAACTTTTTTTTCTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTTAGAGACGGGGTCTCACTATGTTGGCCAGGTTGATCTCAGACTCTTTCCTTCAAGCCATCCTCCCACCTTGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGTCTCTTTATCTTTCCATCTTTCTCTCCTTGTCTAAGCCGTTCTCTCTCCTTTTGTCTCTGTCTCTTCCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCAATCTCTATCTTCTCTCCTGCCACCCCTCACTCCTGCTCCTTGTCTCACTACTCACAGCCTTTCAAGAAGGACCTGCAGCCCAGAGTCCAGCAGGCCAGGAGCCTAGGAGAGCGATGAGGCTGATGCAGGCACTGGCAGAGTCAGCCCTGCTCTCTGACCCAGCTTGAGCTCATTCTCACAGTGCAACCTCCCCCAGGTACCTTCCAGAGCCCCCAGCTCTGGCCTCTGCCCAGCAGGCTCCTCCCAGCTGGCCCAGCTGGAGCATAAAATCCCCTGTCAGCACATGCCAGGCGCGTTCCTCGGTGCCTCCCCAGCCTCCGTGACCCCAGGGCCTGGCTTAGGCTGGGAAGATGGGAGAAGTCAGATCAAGGTGGTCTCCCAGCTCAGCAGGGGAGCAGCCAGCTGGGCCCCCAGCTCTTCCTTGCCCTGATACATGACCTTGGCAAGTCTCTTTCTTTCTTTCTTTCTTTTCTTGAGATAGTCTTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATCTCGGCTCACTGCAACTTCCACCTCCCATGGCTTGAACCTCCCAGGTTCAAGTAATTCTCCCACCTCTGTCTCCCAAGTAGCTGGTGCTACAGGTATATAGCACCATGCCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTCATCATGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGACATGAGCCACCGCACCTGGCCTCCCTTCCTTTTTTAGTAGACATCAGTGCCTAAATGATGTCAGGGATCTCTGCTGGGGAGGATGCAAGAGTGAGTGTGACAGGCTGGGAGAGTGTGGGAGAGAGGGAAGATATGCATGTGTGTACGTGGGTGTGAGAGTGGGGAAGGTTAGAGTGAACTGCGATCTGTAATAAGCATGTGGAGAGCGTGTGTGTGACAGTGTCTTACGTGGGAGTGCACAGGGTGTGGGCGGGAGTAAAAGGCAGAGTCCAATTCCACCGGCCCCCAGTGTGGGTGCAGTGTGAGCCCAAAGTGGGCGCCCTTTGGCAAGGACTGCATGAGCTTTCTTCTCCCTCTTTTTCTTGCCCTCTCTCCCATCTCTTCTTTCCTTCTCCATGTCTCTCTCTCTCCCTCCCTCTATCTATCTTGATTTATCTTTCTTTCTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGGGCAGTGGCATGATCTTGGTTCATTGCAGCCTCAACTTCCTGGGCTCAGGTGATCCTCCTGCCTCAGCCTCCTGAATAGCTGGN
pathogenic
302,748
Is the variant located on chromosome 19 at position 35851608, gene NPHS1, benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['Finnish_congenital_nephrotic_syndrome', 'NPHS1-related_disorder']
CACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGGTGCAAGGAAAGGGCAGAGGGTTTGTCTAGGGAAGGTAAGTGGGAAATGGGGGCCACTTGGCGCTGGGTACAAGGCTGGGATCCCACTCACCTTCAGTCAGCAGCCCCAGGAGCAGGAGAGAAGCCCTGAGCGTCGTCCCCAGGGCCATCACAGGTCCCCCTACTGTGACCCCCACAGCGCCCGCTGCCAGCCACCTGCGTCTGTCTGGCTTTCTCTGGGTCCCTCTCTGTGTGTCTCTGCCACCTGCTTTTCTTTTTTATCTCTTTCCGTTACTCTCCTCCCTTTCTCGTTTTCCTCTTCCCCTCTTCCCTGTGAGTATCTCTCTCTGTCTTGCTCTCAGTCTCAATCTCTGAGTCTCTTTCTCTGTCTCTTTAAAAAAACTTTTTTTTCTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTTAGAGACGGGGTCTCACTATGTTGGCCAGGTTGATCTCAGACTCTTTCCTTCAAGCCATCCTCCCACCTTGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGTCTCTTTATCTTTCCATCTTTCTCTCCTTGTCTAAGCCGTTCTCTCTCCTTTTGTCTCTGTCTCTTCCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCAATCTCTATCTTCTCTCCTGCCACCCCTCACTCCTGCTCCTTGTCTCACTACTCACAGCCTTTCAAGAAGGACCTGCAGCCCAGAGTCCAGCAGGCCAGGAGCCTAGGAGAGCGATGAGGCTGATGCAGGCACTGGCAGAGTCAGCCCTGCTCTCTGACCCAGCTTGAGCTCATTCTCACAGTGCAACCTCCCCCAGGTACCTTCCAGAGCCCCCAGCTCTGGCCTCTGCCCAGCAGGCTCCTCCCAGCTGGCCCAGCTGGAGCATAAAATCCCCTGTCAGCACATGCCAGGCGCGTTCCTCGGTGCCTCCCCAGCCTCCGTGACCCCAGGGCCTGGCTTAGGCTGGGAAGATGGGAGAAGTCAGATCAAGGTGGTCTCCCAGCTCAGCAGGGGAGCAGCCAGCTGGGCCCCCAGCTCTTCCTTGCCCTGATACATGACCTTGGCAAGTCTCTTTCTTTCTTTCTTTCTTTTCTTGAGATAGTCTTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATCTCGGCTCACTGCAACTTCCACCTCCCATGGCTTGAACCTCCCAGGTTCAAGTAATTCTCCCACCTCTGTCTCCCAAGTAGCTGGTGCTACAGGTATATAGCACCATGCCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTCATCATGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGACATGAGCCACCGCACCTGGCCTCCCTTCCTTTTTTAGTAGACATCAGTGCCTAAATGATGTCAGGGATCTCTGCTGGGGAGGATGCAAGAGTGAGTGTGACAGGCTGGGAGAGTGTGGGAGAGAGGGAAGATATGCATGTGTGTACGTGGGTGTGAGAGTGGGGAAGGTTAGAGTGAACTGCGATCTGTAATAAGCATGTGGAGAGCGTGTGTGTGACAGTGTCTTACGTGGGAGTGCACAGGGTGTGGGCGGGAGTAAAAGGCAGAGTCCAATTCCACCGGCCCCCAGTGTGGGTGCAGTGTGAGCCCAAAGTGGGCGCCCTTTGGCAAGGACTGCATGAGCTTTCTTCTCCCTCTTTTTCTTGCCCTCTCTCCCATCTCTTCTTTCCTTCTCCATGTCTCTCTCTCTCCCTCCCTCTATCTATCTTGATTTATCTTTCTTTCTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGGGCAGTGGCATGATCTTGGTTCATTGCAGCCTCAACTTCCTGGGCTCAGGTGATCCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGCACACC
CACGGTGAATGAGGCCTTGATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGGTGCAAGGAAAGGGCAGAGGGTTTGTCTAGGGAAGGTAAGTGGGAAATGGGGGCCACTTGGCGCTGGGTACAAGGCTGGGATCCCACTCACCTTCAGTCAGCAGCCCCAGGAGCAGGAGAGAAGCCCTGAGCGTCGTCCCCAGGGCCATCACAGGTCCCCCTACTGTGACCCCCACAGCGCCCGCTGCCAGCCACCTGCGTCTGTCTGGCTTTCTCTGGGTCCCTCTCTGTGTGTCTCTGCCACCTGCTTTTCTTTTTTATCTCTTTCCGTTACTCTCCTCCCTTTCTCGTTTTCCTCTTCCCCTCTTCCCTGTGAGTATCTCTCTCTGTCTTGCTCTCAGTCTCAATCTCTGAGTCTCTTTCTCTGTCTCTTTAAAAAAACTTTTTTTTCTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTTAGAGACGGGGTCTCACTATGTTGGCCAGGTTGATCTCAGACTCTTTCCTTCAAGCCATCCTCCCACCTTGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGTCTCTTTATCTTTCCATCTTTCTCTCCTTGTCTAAGCCGTTCTCTCTCCTTTTGTCTCTGTCTCTTCCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCAATCTCTATCTTCTCTCCTGCCACCCCTCACTCCTGCTCCTTGTCTCACTACTCACAGCCTTTCAAGAAGGACCTGCAGCCCAGAGTCCAGCAGGCCAGGAGCCTAGGAGAGCGATGAGGCTGATGCAGGCACTGGCAGAGTCAGCCCTGCTCTCTGACCCAGCTTGAGCTCATTCTCACAGTGCAACCTCCCCCAGGTACCTTCCAGAGCCCCCAGCTCTGGCCTCTGCCCAGCAGGCTCCTCCCAGCTGGCCCAGCTGGAGCATAAAATCCCCTGTCAGCACATGCCAGGCGCGTTCCTCGGTGCCTCCCCAGCCTCCGTGACCCCAGGGCCTGGCTTAGGCTGGGAAGATGGGAGAAGTCAGATCAAGGTGGTCTCCCAGCTCAGCAGGGGAGCAGCCAGCTGGGCCCCCAGCTCTTCCTTGCCCTGATACATGACCTTGGCAAGTCTCTTTCTTTCTTTCTTTCTTTTCTTGAGATAGTCTTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATCTCGGCTCACTGCAACTTCCACCTCCCATGGCTTGAACCTCCCAGGTTCAAGTAATTCTCCCACCTCTGTCTCCCAAGTAGCTGGTGCTACAGGTATATAGCACCATGCCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTCATCATGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGACATGAGCCACCGCACCTGGCCTCCCTTCCTTTTTTAGTAGACATCAGTGCCTAAATGATGTCAGGGATCTCTGCTGGGGAGGATGCAAGAGTGAGTGTGACAGGCTGGGAGAGTGTGGGAGAGAGGGAAGATATGCATGTGTGTACGTGGGTGTGAGAGTGGGGAAGGTTAGAGTGAACTGCGATCTGTAATAAGCATGTGGAGAGCGTGTGTGTGACAGTGTCTTACGTGGGAGTGCACAGGGTGTGGGCGGGAGTAAAAGGCAGAGTCCAATTCCACCGGCCCCCAGTGTGGGTGCAGTGTGAGCCCAAAGTGGGCGCCCTTTGGCAAGGACTGCATGAGCTTTCTTCTCCCTCTTTTTCTTGCCCTCTCTCCCATCTCTTCTTTCCTTCTCCATGTCTCTCTCTCTCCCTCCCTCTATCTATCTTGATTTATCTTTCTTTCTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGGGCAGTGGCATGATCTTGGTTCATTGCAGCCTCAACTTCCTGGGCTCAGGTGATCCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGCACACCNN
pathogenic
302,749
Determine whether the variant at chromosome 19, position 35851627, in gene NPHS1 is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
ATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGGTGCAAGGAAAGGGCAGAGGGTTTGTCTAGGGAAGGTAAGTGGGAAATGGGGGCCACTTGGCGCTGGGTACAAGGCTGGGATCCCACTCACCTTCAGTCAGCAGCCCCAGGAGCAGGAGAGAAGCCCTGAGCGTCGTCCCCAGGGCCATCACAGGTCCCCCTACTGTGACCCCCACAGCGCCCGCTGCCAGCCACCTGCGTCTGTCTGGCTTTCTCTGGGTCCCTCTCTGTGTGTCTCTGCCACCTGCTTTTCTTTTTTATCTCTTTCCGTTACTCTCCTCCCTTTCTCGTTTTCCTCTTCCCCTCTTCCCTGTGAGTATCTCTCTCTGTCTTGCTCTCAGTCTCAATCTCTGAGTCTCTTTCTCTGTCTCTTTAAAAAAACTTTTTTTTCTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTTAGAGACGGGGTCTCACTATGTTGGCCAGGTTGATCTCAGACTCTTTCCTTCAAGCCATCCTCCCACCTTGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGTCTCTTTATCTTTCCATCTTTCTCTCCTTGTCTAAGCCGTTCTCTCTCCTTTTGTCTCTGTCTCTTCCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCAATCTCTATCTTCTCTCCTGCCACCCCTCACTCCTGCTCCTTGTCTCACTACTCACAGCCTTTCAAGAAGGACCTGCAGCCCAGAGTCCAGCAGGCCAGGAGCCTAGGAGAGCGATGAGGCTGATGCAGGCACTGGCAGAGTCAGCCCTGCTCTCTGACCCAGCTTGAGCTCATTCTCACAGTGCAACCTCCCCCAGGTACCTTCCAGAGCCCCCAGCTCTGGCCTCTGCCCAGCAGGCTCCTCCCAGCTGGCCCAGCTGGAGCATAAAATCCCCTGTCAGCACATGCCAGGCGCGTTCCTCGGTGCCTCCCCAGCCTCCGTGACCCCAGGGCCTGGCTTAGGCTGGGAAGATGGGAGAAGTCAGATCAAGGTGGTCTCCCAGCTCAGCAGGGGAGCAGCCAGCTGGGCCCCCAGCTCTTCCTTGCCCTGATACATGACCTTGGCAAGTCTCTTTCTTTCTTTCTTTCTTTTCTTGAGATAGTCTTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATCTCGGCTCACTGCAACTTCCACCTCCCATGGCTTGAACCTCCCAGGTTCAAGTAATTCTCCCACCTCTGTCTCCCAAGTAGCTGGTGCTACAGGTATATAGCACCATGCCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTCATCATGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGACATGAGCCACCGCACCTGGCCTCCCTTCCTTTTTTAGTAGACATCAGTGCCTAAATGATGTCAGGGATCTCTGCTGGGGAGGATGCAAGAGTGAGTGTGACAGGCTGGGAGAGTGTGGGAGAGAGGGAAGATATGCATGTGTGTACGTGGGTGTGAGAGTGGGGAAGGTTAGAGTGAACTGCGATCTGTAATAAGCATGTGGAGAGCGTGTGTGTGACAGTGTCTTACGTGGGAGTGCACAGGGTGTGGGCGGGAGTAAAAGGCAGAGTCCAATTCCACCGGCCCCCAGTGTGGGTGCAGTGTGAGCCCAAAGTGGGCGCCCTTTGGCAAGGACTGCATGAGCTTTCTTCTCCCTCTTTTTCTTGCCCTCTCTCCCATCTCTTCTTTCCTTCTCCATGTCTCTCTCTCTCCCTCCCTCTATCTATCTTGATTTATCTTTCTTTCTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGGGCAGTGGCATGATCTTGGTTCATTGCAGCCTCAACTTCCTGGGCTCAGGTGATCCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGCACACCACCACTCCAGCTAATTTTT
ATGGGGGCCTCCAGTGCTGGGCTAGACGCCTCACAGACCAGCAACTGCCTATTATCTGAGCTCCGGGGTGTCACCCTGGGATGAGAAGTCAGGGTTATAGAGTCAGAGTCATCATCTGAAATTTGGGGAGTCAGGGAGAAGAGGTGGGGATGTCACCTCTGGTCCCCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGGTGCAAGGAAAGGGCAGAGGGTTTGTCTAGGGAAGGTAAGTGGGAAATGGGGGCCACTTGGCGCTGGGTACAAGGCTGGGATCCCACTCACCTTCAGTCAGCAGCCCCAGGAGCAGGAGAGAAGCCCTGAGCGTCGTCCCCAGGGCCATCACAGGTCCCCCTACTGTGACCCCCACAGCGCCCGCTGCCAGCCACCTGCGTCTGTCTGGCTTTCTCTGGGTCCCTCTCTGTGTGTCTCTGCCACCTGCTTTTCTTTTTTATCTCTTTCCGTTACTCTCCTCCCTTTCTCGTTTTCCTCTTCCCCTCTTCCCTGTGAGTATCTCTCTCTGTCTTGCTCTCAGTCTCAATCTCTGAGTCTCTTTCTCTGTCTCTTTAAAAAAACTTTTTTTTCTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTTAGAGACGGGGTCTCACTATGTTGGCCAGGTTGATCTCAGACTCTTTCCTTCAAGCCATCCTCCCACCTTGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGTCTCTTTATCTTTCCATCTTTCTCTCCTTGTCTAAGCCGTTCTCTCTCCTTTTGTCTCTGTCTCTTCCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCAATCTCTATCTTCTCTCCTGCCACCCCTCACTCCTGCTCCTTGTCTCACTACTCACAGCCTTTCAAGAAGGACCTGCAGCCCAGAGTCCAGCAGGCCAGGAGCCTAGGAGAGCGATGAGGCTGATGCAGGCACTGGCAGAGTCAGCCCTGCTCTCTGACCCAGCTTGAGCTCATTCTCACAGTGCAACCTCCCCCAGGTACCTTCCAGAGCCCCCAGCTCTGGCCTCTGCCCAGCAGGCTCCTCCCAGCTGGCCCAGCTGGAGCATAAAATCCCCTGTCAGCACATGCCAGGCGCGTTCCTCGGTGCCTCCCCAGCCTCCGTGACCCCAGGGCCTGGCTTAGGCTGGGAAGATGGGAGAAGTCAGATCAAGGTGGTCTCCCAGCTCAGCAGGGGAGCAGCCAGCTGGGCCCCCAGCTCTTCCTTGCCCTGATACATGACCTTGGCAAGTCTCTTTCTTTCTTTCTTTCTTTTCTTGAGATAGTCTTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATCTCGGCTCACTGCAACTTCCACCTCCCATGGCTTGAACCTCCCAGGTTCAAGTAATTCTCCCACCTCTGTCTCCCAAGTAGCTGGTGCTACAGGTATATAGCACCATGCCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTCATCATGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGACATGAGCCACCGCACCTGGCCTCCCTTCCTTTTTTAGTAGACATCAGTGCCTAAATGATGTCAGGGATCTCTGCTGGGGAGGATGCAAGAGTGAGTGTGACAGGCTGGGAGAGTGTGGGAGAGAGGGAAGATATGCATGTGTGTACGTGGGTGTGAGAGTGGGGAAGGTTAGAGTGAACTGCGATCTGTAATAAGCATGTGGAGAGCGTGTGTGTGACAGTGTCTTACGTGGGAGTGCACAGGGTGTGGGCGGGAGTAAAAGGCAGAGTCCAATTCCACCGGCCCCCAGTGTGGGTGCAGTGTGAGCCCAAAGTGGGCGCCCTTTGGCAAGGACTGCATGAGCTTTCTTCTCCCTCTTTTTCTTGCCCTCTCTCCCATCTCTTCTTTCCTTCTCCATGTCTCTCTCTCTCCCTCCCTCTATCTATCTTGATTTATCTTTCTTTCTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGGGCAGTGGCATGATCTTGGTTCATTGCAGCCTCAACTTCCTGGGCTCAGGTGATCCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGCACACCACCACTCCAGCTAATTTTTN
pathogenic
302,751
Mutation at chromosome 19, position 35851792, within NPHS1: benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Finnish_congenital_nephrotic_syndrome']
CCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGGTGCAAGGAAAGGGCAGAGGGTTTGTCTAGGGAAGGTAAGTGGGAAATGGGGGCCACTTGGCGCTGGGTACAAGGCTGGGATCCCACTCACCTTCAGTCAGCAGCCCCAGGAGCAGGAGAGAAGCCCTGAGCGTCGTCCCCAGGGCCATCACAGGTCCCCCTACTGTGACCCCCACAGCGCCCGCTGCCAGCCACCTGCGTCTGTCTGGCTTTCTCTGGGTCCCTCTCTGTGTGTCTCTGCCACCTGCTTTTCTTTTTTATCTCTTTCCGTTACTCTCCTCCCTTTCTCGTTTTCCTCTTCCCCTCTTCCCTGTGAGTATCTCTCTCTGTCTTGCTCTCAGTCTCAATCTCTGAGTCTCTTTCTCTGTCTCTTTAAAAAAACTTTTTTTTCTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTTAGAGACGGGGTCTCACTATGTTGGCCAGGTTGATCTCAGACTCTTTCCTTCAAGCCATCCTCCCACCTTGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGTCTCTTTATCTTTCCATCTTTCTCTCCTTGTCTAAGCCGTTCTCTCTCCTTTTGTCTCTGTCTCTTCCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCAATCTCTATCTTCTCTCCTGCCACCCCTCACTCCTGCTCCTTGTCTCACTACTCACAGCCTTTCAAGAAGGACCTGCAGCCCAGAGTCCAGCAGGCCAGGAGCCTAGGAGAGCGATGAGGCTGATGCAGGCACTGGCAGAGTCAGCCCTGCTCTCTGACCCAGCTTGAGCTCATTCTCACAGTGCAACCTCCCCCAGGTACCTTCCAGAGCCCCCAGCTCTGGCCTCTGCCCAGCAGGCTCCTCCCAGCTGGCCCAGCTGGAGCATAAAATCCCCTGTCAGCACATGCCAGGCGCGTTCCTCGGTGCCTCCCCAGCCTCCGTGACCCCAGGGCCTGGCTTAGGCTGGGAAGATGGGAGAAGTCAGATCAAGGTGGTCTCCCAGCTCAGCAGGGGAGCAGCCAGCTGGGCCCCCAGCTCTTCCTTGCCCTGATACATGACCTTGGCAAGTCTCTTTCTTTCTTTCTTTCTTTTCTTGAGATAGTCTTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATCTCGGCTCACTGCAACTTCCACCTCCCATGGCTTGAACCTCCCAGGTTCAAGTAATTCTCCCACCTCTGTCTCCCAAGTAGCTGGTGCTACAGGTATATAGCACCATGCCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTCATCATGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGACATGAGCCACCGCACCTGGCCTCCCTTCCTTTTTTAGTAGACATCAGTGCCTAAATGATGTCAGGGATCTCTGCTGGGGAGGATGCAAGAGTGAGTGTGACAGGCTGGGAGAGTGTGGGAGAGAGGGAAGATATGCATGTGTGTACGTGGGTGTGAGAGTGGGGAAGGTTAGAGTGAACTGCGATCTGTAATAAGCATGTGGAGAGCGTGTGTGTGACAGTGTCTTACGTGGGAGTGCACAGGGTGTGGGCGGGAGTAAAAGGCAGAGTCCAATTCCACCGGCCCCCAGTGTGGGTGCAGTGTGAGCCCAAAGTGGGCGCCCTTTGGCAAGGACTGCATGAGCTTTCTTCTCCCTCTTTTTCTTGCCCTCTCTCCCATCTCTTCTTTCCTTCTCCATGTCTCTCTCTCTCCCTCCCTCTATCTATCTTGATTTATCTTTCTTTCTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGGGCAGTGGCATGATCTTGGTTCATTGCAGCCTCAACTTCCTGGGCTCAGGTGATCCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGCACACCACCACTCCAGCTAATTTTTTAAAATTTGTTTGTAGAGACAGGGTCTTTCTCTATTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTCATTGAAGCCTCAAACCTCCTAGGCTCAAGTGTTCTTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCCCGCATCACCACTCTGGCTATT
CCACACCTGGTCTAAGTCCCCATGCTGATCTCCTCTGGGATCCAGGGTTCCATGGGAGAGATTTTGGGGGTGAACAGTGAGAATTGGAGCCTAGAGAGCCCCACATCTGACCAAAACTTTAGTGCTTGGGACTCTAGAACTGAGGTTCCCATGAAGTTTTTTTGTTTGTTTATTTGTTTGTTTGTCTTTTGAGACAGAATCTGGCTCTATCACCCAGGCTGGAGTGCAGTGGTACAATCTCAGCTCACTGCAACCTCCACTTCTTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTGAGGAGCTGGGAGTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGAAAACAGGGTTTCACCATGTTGACCCAGCTGATCTTGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCTCTGTTCCCCATGAAGAAGCTTTGAGAGTCAGGATGAAGAATTGGGTCCCAGATGTTCATACCTAGCCCAAGCTTCATGCTTGCATCCCTGGGGTCTGGGGTTCCCATGGGGAAAATTAGGGGTCAAGGTTGGGGGGTTGTTTCAGTTTCCACACCTGGCTGTGGCCTCCACAGTGAAGAGTTTCTGCTGGGAGCCCTCGTTCACGTTTGCAGAGATGTCAGATATTGTCTGTCCACCTTGGGGCAGCAAGAGGGCTAGAGGGGTTCCAGGCTCCCCGCAAGATAGATTCTGGGGAGCATGGCCTGGAAGTCCTCAGGGTGGGTGCGATGCCCCCTCCCTCCTCGTTCTAGAGGAAAAGGGCCTGGGGCAGAGCTGCATCCCCTCCCGACTTTCTGGACTGCCTGAATGCCGCAGTCTTCAGTGCTGGGTCCTGGGCCTCCCCGCTCTTCTCAACTCCTTGCTGGGTTGTACCATGCACCCTATCCCTCAGCTTCTCATGTCTGCACCAGCGCTACTGCCCATATTTCTATCTGGGCCTCAGCCTTGTGCTGGTTGCTGCCGCCCTCGATGTGCCCTCGCATCCACTGGGTCCCACACTGGCCTCAGCATCTCCCCACACCTTCTCCTGGGTCCCCATCCCAGGGATGACATCTTTTCTGGGGCCCTTAGAAGGGTACTGGTCAGGAACACACACCCTTCCCACTCCAGAGGCTTCATGCTGCCCCCTGCCACCCAGTTCACCCACACTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCAGCTACCCAGGTGACCATGGTGCCTGCCTCTGGGGTCAGCAGGAGCAGCTTGGGAGGAACTGGTGAGAGAAGGGTCTGGGGTAAGCTTCCAGCACTGAGAAGGACTTGAAGATTGGAGTTCGGTACCCAGAGTCTGGGAGAGGAGAGGCTGGGGGCTTGGACTTCCGGGTTGCGGGGTAGGGGAGGGCTTGAAGCCCAGACTCATGGGTCCTGGGCGTCTCTCACCCATACCCAGGATGGAGAGGATCACTCTGGGAGACACGAGCTCGGGCCCCATCTCAGAGCGGCCGACCTGGCACTCATACTCCGCGTCATCGCTGAGGTCACAGGCCTCGATGTGCAGGTGGAATTCACCTGCAGGGGGAGCCGGAAGTCAGGGCCGCAGCTTCCGCTGGTGGCTGAGGGTCTCAGGCTCTGATCCCTTACCTCTAGCAGGGTCCCCTTCCAGGCGGTACCTCGGGAAGCCTGGGATCCTGGGGTCGGGGCCCAGGAGCAGCCCATCTTTGGCCCATTGCACCGCACTGCCAGGGGTGCTGACCCCACAACGCAGCTCCACTGAGGCCCCCTCCACCACCGTCAGGTTTTCAGGCAGGGCCCAGAAGCCCCGGGGAACGGAGGCAGGAATCGCCAACTGCGCCAGGCCTGAGGACACAGCGCGGTGCAAGGAAAGGGCAGAGGGTTTGTCTAGGGAAGGTAAGTGGGAAATGGGGGCCACTTGGCGCTGGGTACAAGGCTGGGATCCCACTCACCTTCAGTCAGCAGCCCCCCAGGAGCAGGAGAGAAGCCCTGAGCGTCGTCCCCAGGGCCATCACAGGTCCCCCTACTGTGACCCCCACAGCGCCCGCTGCCAGCCACCTGCGTCTGTCTGGCTTTCTCTGGGTCCCTCTCTGTGTGTCTCTGCCACCTGCTTTTCTTTTTTATCTCTTTCCGTTACTCTCCTCCCTTTCTCGTTTTCCTCTTCCCCTCTTCCCTGTGAGTATCTCTCTCTGTCTTGCTCTCAGTCTCAATCTCTGAGTCTCTTTCTCTGTCTCTTTAAAAAAACTTTTTTTTCTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTTAGAGACGGGGTCTCACTATGTTGGCCAGGTTGATCTCAGACTCTTTCCTTCAAGCCATCCTCCCACCTTGGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACTGCGCCCAGTCTCTTTATCTTTCCATCTTTCTCTCCTTGTCTAAGCCGTTCTCTCTCCTTTTGTCTCTGTCTCTTCCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCAATCTCTATCTTCTCTCCTGCCACCCCTCACTCCTGCTCCTTGTCTCACTACTCACAGCCTTTCAAGAAGGACCTGCAGCCCAGAGTCCAGCAGGCCAGGAGCCTAGGAGAGCGATGAGGCTGATGCAGGCACTGGCAGAGTCAGCCCTGCTCTCTGACCCAGCTTGAGCTCATTCTCACAGTGCAACCTCCCCCAGGTACCTTCCAGAGCCCCCAGCTCTGGCCTCTGCCCAGCAGGCTCCTCCCAGCTGGCCCAGCTGGAGCATAAAATCCCCTGTCAGCACATGCCAGGCGCGTTCCTCGGTGCCTCCCCAGCCTCCGTGACCCCAGGGCCTGGCTTAGGCTGGGAAGATGGGAGAAGTCAGATCAAGGTGGTCTCCCAGCTCAGCAGGGGAGCAGCCAGCTGGGCCCCCAGCTCTTCCTTGCCCTGATACATGACCTTGGCAAGTCTCTTTCTTTCTTTCTTTCTTTTCTTGAGATAGTCTTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCATCTCGGCTCACTGCAACTTCCACCTCCCATGGCTTGAACCTCCCAGGTTCAAGTAATTCTCCCACCTCTGTCTCCCAAGTAGCTGGTGCTACAGGTATATAGCACCATGCCTGGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTCATCATGTTGGCCACGCTGGTCTCGAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGACATGAGCCACCGCACCTGGCCTCCCTTCCTTTTTTAGTAGACATCAGTGCCTAAATGATGTCAGGGATCTCTGCTGGGGAGGATGCAAGAGTGAGTGTGACAGGCTGGGAGAGTGTGGGAGAGAGGGAAGATATGCATGTGTGTACGTGGGTGTGAGAGTGGGGAAGGTTAGAGTGAACTGCGATCTGTAATAAGCATGTGGAGAGCGTGTGTGTGACAGTGTCTTACGTGGGAGTGCACAGGGTGTGGGCGGGAGTAAAAGGCAGAGTCCAATTCCACCGGCCCCCAGTGTGGGTGCAGTGTGAGCCCAAAGTGGGCGCCCTTTGGCAAGGACTGCATGAGCTTTCTTCTCCCTCTTTTTCTTGCCCTCTCTCCCATCTCTTCTTTCCTTCTCCATGTCTCTCTCTCTCCCTCCCTCTATCTATCTTGATTTATCTTTCTTTCTTTTGAGATGGAATCTTGCTCTGTTGCCCAGGCTGGAGGGCAGTGGCATGATCTTGGTTCATTGCAGCCTCAACTTCCTGGGCTCAGGTGATCCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGTGCACACCACCACTCCAGCTAATTTTTTAAAATTTGTTTGTAGAGACAGGGTCTTTCTCTATTGCCCAGGCTGGAGTGCAGTGGTGTGATCATGGCTCATTGAAGCCTCAAACCTCCTAGGCTCAAGTGTTCTTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCCCGCATCACCACTCTGGCTA
pathogenic
302,755
The mutation impacting SYNE4 (spectrin repeat containing nuclear envelope family member 4) on chromosome 19 at position 36006587: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic
GCCTTCCACTCCCAGACCTTCAGGTTCAAGTGAAGCTGACAGCCACCTCCCCAACTTCCATGATTGGTGTGACCCAGACCTGGCCAATCTGAGCACTCTGGTTTATTCAAGGTGCAGCCCATGACCCCATCCGGTAAGTGGGAGTCAGCCCTGGGACTTTGGCAGCTGTCAGTAGGGTCGGAGGCATGCTCCTTCCCCTGGGGTGGGTAAACCAGTGGGAGTGGCAGTGTAGCCACTGGAGCACCCATTTTGCTAAGAAGGAAGCCACCTTGGGGACTTAGAGCCCAAGAAAGGGAGGGACTGAGCCCTGATGTTATTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGTTGAGATGGGGTCTCACTATGTTGCTCAGACTGGAGTGCAGTGGTGGGATCTCGGCTCACCGCAACCTCCGCCTCCCGGGCTCAAGCGATTCTCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAGGTAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGGCCCTGGTATTACTTCAGGCTCTGAATTCAACAGTGCCTGGACCTTTCCATTACTTTTTTTTTTTTTAATAGCATTCCCTTTCTTGTGCCTTTTGATTTCTTGGGTTTCTGTCACTTGCCATCAAGATTCCTGAGTGCTACACCTGGTTGAGAACTGGCTCACCTGAGGCTTCCGGAGCAGGGAGTGTCTTTGGTGACGTGCTAAGCGTTTCTGGTGGCCGAGGCCAGACTCCAGCATGTCCTGTCGGGAGTGAGAGGTGTCTGCTTCCTGGAGAACCAGCAACAAAGAAAAACGTGGTTGGGGGAGGGCCAGGATAGGGATGTCATAGAGATGAGATTCTGGGGGAGCAGAGAGATCTCACAGGACAGACAAAGGCAGAGCCAAAGAAACCAAGAGAGGAGAGAATTATTTATTCATTCATTCAATAAATGTGTAATGAGTTTCTGTTACAAGCCAGGAACTGTTCTAGGAGCTGAGGACACAGTGGGGATGGAAATAGGCAAATTCCTGGCCTCCGTGGAGCTTATATTTGACAGGAGAGAGACCATAAATTAATAAGTAAATGAGGCCTGGTACAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTCAGGCGTTCGAGACTAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAATGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATCTCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCCAGGATTGCACCACTACACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAATAAATAAAAATTTTTAAAAATAAGTAAATGTACAAAGTCAAGCTGTGGTGAGTGCTGTTAGGAAATAAAGTAAGAAGATAGGAGTGCTCATGTTTGGAGGTCACGACAGGCCTCCCTGAAGAGGTGGCACTTCAGGAGAGACTGGGACAGTCAGGAGGTGAGTGGGGCATCATCTGGGGGCCTCAGGATAGGAGTGAATTTGAGATGGGGCTTGAGGATGTAGACAGAGACAGACGAGAGAGAGAAACAGTGAGATAGAAGGAGACACCGAGAGACAGAGATAGAGGGGGAGACAGAGCCACTGACACCTCCTTGGAAGGGCAGGATCTTGCTAGAAGGTGCGCAGAGATGTCCCCAGGGTGCCTGGCAGAAGGTCCCTCAAGGGGGTCTGCTCTCACCTCAAGGCCTTGTCCCCTGCCCTGGGGCCCCCTCTGGCCACACAGCTCACAGGGCACTCCTAGTGTCCGGGCTGTCTTTTGTCCCAAGGGCCCAAGGCCCCCAATGTCCCCCGCCGGATCCCACTCCAACTCTGTGGAAGTGGGGAGGCTACTGGGTGCCCAGGGCCCCCAGACCCCACCAGGTCCTGGCCAGTCCGAGTCTCCCTCGACCTCCAAGTCCTGGTCCAGCGTGTTGGCCTCCTCGAACACCTGGGTCAAAGGACAGAGGTCATGGAGGCTATGAGGTTGGGGCCTGGGTTGGGTGGGGGGTATCAAGATGGGCCCTACCAGGCTGTAGCTGACCAGCTGGGCCTGCAGCTGCCAGAGCCGCCGGAAGATGGAGTCTCGGTAAGCTCCCAGGGCCCGCAGGATCTGCTCCAGGGCTGCCCAGGCCCTGGGCTCACTCCGCTGTGCCAGCCCCTCACCAAACGCTAGCAGCGCCTCCACACGCTCAGCTGCCCCTCGTAGGTCCACCTGGAGGGCCTGGGGACATATGGACATCACCCCACGCACACACCAGGGACCCAAAACCTGGAGTTACCCCCCTCCCCCATTTCCTATCCAAAGGCCTGGAACATGCACTCAACCCATTTCCCATCCCGGAAAGCTGGCACCCACTGCTGGGGCCGTGCCCACCCCCACATCCTGGCCTCTCCTGCCTACCTGCAGCTGCACCATCCCACTCTGGGCCAATGCCCAGTGCCCCAGGCCTTGCTCCAGGTCCTGCAGCCGGCGGCCCAGCCCCAGCAGGCACAGGTGCAGGCTGTTCTGCTCAGCCTCTAGTACCTCCAGGCCAGAAATGGGGTGCTGGGGAACACAGGAGCCAGGTCAGGGCCAGTGGGCCAATCAAGATATCACCCCTGCTCCCATCCCCACCCCTCTTCTGTAAGCTTCTGGAAACTTCTCTGTGGCACAGTCCATCTCCGGGTCTGTCTGCACCAGGATGGCTCCCACTGGGGGGGCCTTCCCAGTGGAGCCAGGCCTGAGGACAGATATCTAGTTCAAGGTCTCCAGGTTTTCAAAGCTCCTGGAAACTTGGATGTGTGAGGCCTGGGGGGTCTGGACAGGGAGCGGGGCTGGGTACCCCCCAAGAAGAATGGGGCTACACCAGGAGCAATGATGAAATGCTTCTCAGCCGGGCGCAGTGGTTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCCGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAGACATCATCTCTACTTTTTTTTTTTTAATAAAAAAGAAATATGGCTGGACACGGTGACGCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAACAAGTCGAAAACCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGTGGCTGAGGCAGGAGAATCACTGGGACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATCTCACCACTGCATTCCAGCCTAGGTGACAGAGAGACTCCATCTCAAAAAAAAAAAGAAAGAAAGAAATACGTCTCCCCAGTTGGTCAGATATTGAAACACTTTTCCAGAAGGTCCCTCCCCCTACAGACACCCAACACCTTTCCAGAATCATCACCCGGTCCTCAGTATGGAGGCCAGACTCCAGGGGACAGAGAGGAGGTGGGGCTGGCACAAGGGGTCTGGGTCACCTCAGCTCACCTCACAGTGTTTGCCCCCAGCTGGGTCCTCGTAGGAAGAGGGTGTTGACCATCTCGGGGGGTGAGCGGCAGGCTCATTGCCCCTTGGCCCACCCTGGAAGTGCTCAGGAGGGCCCAAGGAGTCCTGTCCCAGGGTCTGGGCCTGCTCTGGGCTAGGAGGCAGGGGGCGGTGACTGGGTGAGTCTCGACACCTCACTTTTCAGCCTACCGTCACCCCAACCCTGGTGGCCTCTCCTATGTCCCCAGGCGATCACAGCCATGGCACCTCCTACCCTCACATGGCCCCTGCCACCACGCCTACCCTTTTGGGAACAAGCTTCCAAAGCCCCGGCCCCCACCTCGTGCTCTCCTCTCCGGACGCGGGGCAGACGGTGCATCCAACAATGTCCGCCTCTCTAGGTGCTCCCGGTGGGTGGTTG
GCCTTCCACTCCCAGACCTTCAGGTTCAAGTGAAGCTGACAGCCACCTCCCCAACTTCCATGATTGGTGTGACCCAGACCTGGCCAATCTGAGCACTCTGGTTTATTCAAGGTGCAGCCCATGACCCCATCCGGTAAGTGGGAGTCAGCCCTGGGACTTTGGCAGCTGTCAGTAGGGTCGGAGGCATGCTCCTTCCCCTGGGGTGGGTAAACCAGTGGGAGTGGCAGTGTAGCCACTGGAGCACCCATTTTGCTAAGAAGGAAGCCACCTTGGGGACTTAGAGCCCAAGAAAGGGAGGGACTGAGCCCTGATGTTATTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGTTGAGATGGGGTCTCACTATGTTGCTCAGACTGGAGTGCAGTGGTGGGATCTCGGCTCACCGCAACCTCCGCCTCCCGGGCTCAAGCGATTCTCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAGGTAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGGCCCTGGTATTACTTCAGGCTCTGAATTCAACAGTGCCTGGACCTTTCCATTACTTTTTTTTTTTTTAATAGCATTCCCTTTCTTGTGCCTTTTGATTTCTTGGGTTTCTGTCACTTGCCATCAAGATTCCTGAGTGCTACACCTGGTTGAGAACTGGCTCACCTGAGGCTTCCGGAGCAGGGAGTGTCTTTGGTGACGTGCTAAGCGTTTCTGGTGGCCGAGGCCAGACTCCAGCATGTCCTGTCGGGAGTGAGAGGTGTCTGCTTCCTGGAGAACCAGCAACAAAGAAAAACGTGGTTGGGGGAGGGCCAGGATAGGGATGTCATAGAGATGAGATTCTGGGGGAGCAGAGAGATCTCACAGGACAGACAAAGGCAGAGCCAAAGAAACCAAGAGAGGAGAGAATTATTTATTCATTCATTCAATAAATGTGTAATGAGTTTCTGTTACAAGCCAGGAACTGTTCTAGGAGCTGAGGACACAGTGGGGATGGAAATAGGCAAATTCCTGGCCTCCGTGGAGCTTATATTTGACAGGAGAGAGACCATAAATTAATAAGTAAATGAGGCCTGGTACAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTCAGGCGTTCGAGACTAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAATGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATCTCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCCAGGATTGCACCACTACACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAATAAATAAAAATTTTTAAAAATAAGTAAATGTACAAAGTCAAGCTGTGGTGAGTGCTGTTAGGAAATAAAGTAAGAAGATAGGAGTGCTCATGTTTGGAGGTCACGACAGGCCTCCCTGAAGAGGTGGCACTTCAGGAGAGACTGGGACAGTCAGGAGGTGAGTGGGGCATCATCTGGGGGCCTCAGGATAGGAGTGAATTTGAGATGGGGCTTGAGGATGTAGACAGAGACAGACGAGAGAGAGAAACAGTGAGATAGAAGGAGACACCGAGAGACAGAGATAGAGGGGGAGACAGAGCCACTGACACCTCCTTGGAAGGGCAGGATCTTGCTAGAAGGTGCGCAGAGATGTCCCCAGGGTGCCTGGCAGAAGGTCCCTCAAGGGGGTCTGCTCTCACCTCAAGGCCTTGTCCCCTGCCCTGGGGCCCCCTCTGGCCACACAGCTCACAGGGCACTCCTAGTGTCCGGGCTGTCTTTTGTCCCAAGGGCCCAAGGCCCCCAATGTCCCCCGCCGGATCCCACTCCAACTCTGTGGAAGTGGGGAGGCTACTGGGTGCCCAGGGCCCCAGACCCCACCAGGTCCTGGCCAGTCCGAGTCTCCCTCGACCTCCAAGTCCTGGTCCAGCGTGTTGGCCTCCTCGAACACCTGGGTCAAAGGACAGAGGTCATGGAGGCTATGAGGTTGGGGCCTGGGTTGGGTGGGGGGTATCAAGATGGGCCCTACCAGGCTGTAGCTGACCAGCTGGGCCTGCAGCTGCCAGAGCCGCCGGAAGATGGAGTCTCGGTAAGCTCCCAGGGCCCGCAGGATCTGCTCCAGGGCTGCCCAGGCCCTGGGCTCACTCCGCTGTGCCAGCCCCTCACCAAACGCTAGCAGCGCCTCCACACGCTCAGCTGCCCCTCGTAGGTCCACCTGGAGGGCCTGGGGACATATGGACATCACCCCACGCACACACCAGGGACCCAAAACCTGGAGTTACCCCCCTCCCCCATTTCCTATCCAAAGGCCTGGAACATGCACTCAACCCATTTCCCATCCCGGAAAGCTGGCACCCACTGCTGGGGCCGTGCCCACCCCCACATCCTGGCCTCTCCTGCCTACCTGCAGCTGCACCATCCCACTCTGGGCCAATGCCCAGTGCCCCAGGCCTTGCTCCAGGTCCTGCAGCCGGCGGCCCAGCCCCAGCAGGCACAGGTGCAGGCTGTTCTGCTCAGCCTCTAGTACCTCCAGGCCAGAAATGGGGTGCTGGGGAACACAGGAGCCAGGTCAGGGCCAGTGGGCCAATCAAGATATCACCCCTGCTCCCATCCCCACCCCTCTTCTGTAAGCTTCTGGAAACTTCTCTGTGGCACAGTCCATCTCCGGGTCTGTCTGCACCAGGATGGCTCCCACTGGGGGGGCCTTCCCAGTGGAGCCAGGCCTGAGGACAGATATCTAGTTCAAGGTCTCCAGGTTTTCAAAGCTCCTGGAAACTTGGATGTGTGAGGCCTGGGGGGTCTGGACAGGGAGCGGGGCTGGGTACCCCCCAAGAAGAATGGGGCTACACCAGGAGCAATGATGAAATGCTTCTCAGCCGGGCGCAGTGGTTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCCGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAGACATCATCTCTACTTTTTTTTTTTTAATAAAAAAGAAATATGGCTGGACACGGTGACGCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAACAAGTCGAAAACCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGTGGCTGAGGCAGGAGAATCACTGGGACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATCTCACCACTGCATTCCAGCCTAGGTGACAGAGAGACTCCATCTCAAAAAAAAAAAGAAAGAAAGAAATACGTCTCCCCAGTTGGTCAGATATTGAAACACTTTTCCAGAAGGTCCCTCCCCCTACAGACACCCAACACCTTTCCAGAATCATCACCCGGTCCTCAGTATGGAGGCCAGACTCCAGGGGACAGAGAGGAGGTGGGGCTGGCACAAGGGGTCTGGGTCACCTCAGCTCACCTCACAGTGTTTGCCCCCAGCTGGGTCCTCGTAGGAAGAGGGTGTTGACCATCTCGGGGGGTGAGCGGCAGGCTCATTGCCCCTTGGCCCACCCTGGAAGTGCTCAGGAGGGCCCAAGGAGTCCTGTCCCAGGGTCTGGGCCTGCTCTGGGCTAGGAGGCAGGGGGCGGTGACTGGGTGAGTCTCGACACCTCACTTTTCAGCCTACCGTCACCCCAACCCTGGTGGCCTCTCCTATGTCCCCAGGCGATCACAGCCATGGCACCTCCTACCCTCACATGGCCCCTGCCACCACGCCTACCCTTTTGGGAACAAGCTTCCAAAGCCCCGGCCCCCACCTCGTGCTCTCCTCTCCGGACGCGGGGCAGACGGTGCATCCAACAATGTCCGCCTCTCTAGGTGCTCCCGGTGGGTGGTTGN
pathogenic
302,799
Is the genetic variant on chromosome 19, position 36006623, gene SYNE4 (spectrin repeat containing nuclear envelope family member 4), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_76']
TGACAGCCACCTCCCCAACTTCCATGATTGGTGTGACCCAGACCTGGCCAATCTGAGCACTCTGGTTTATTCAAGGTGCAGCCCATGACCCCATCCGGTAAGTGGGAGTCAGCCCTGGGACTTTGGCAGCTGTCAGTAGGGTCGGAGGCATGCTCCTTCCCCTGGGGTGGGTAAACCAGTGGGAGTGGCAGTGTAGCCACTGGAGCACCCATTTTGCTAAGAAGGAAGCCACCTTGGGGACTTAGAGCCCAAGAAAGGGAGGGACTGAGCCCTGATGTTATTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGTTGAGATGGGGTCTCACTATGTTGCTCAGACTGGAGTGCAGTGGTGGGATCTCGGCTCACCGCAACCTCCGCCTCCCGGGCTCAAGCGATTCTCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAGGTAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGGCCCTGGTATTACTTCAGGCTCTGAATTCAACAGTGCCTGGACCTTTCCATTACTTTTTTTTTTTTTAATAGCATTCCCTTTCTTGTGCCTTTTGATTTCTTGGGTTTCTGTCACTTGCCATCAAGATTCCTGAGTGCTACACCTGGTTGAGAACTGGCTCACCTGAGGCTTCCGGAGCAGGGAGTGTCTTTGGTGACGTGCTAAGCGTTTCTGGTGGCCGAGGCCAGACTCCAGCATGTCCTGTCGGGAGTGAGAGGTGTCTGCTTCCTGGAGAACCAGCAACAAAGAAAAACGTGGTTGGGGGAGGGCCAGGATAGGGATGTCATAGAGATGAGATTCTGGGGGAGCAGAGAGATCTCACAGGACAGACAAAGGCAGAGCCAAAGAAACCAAGAGAGGAGAGAATTATTTATTCATTCATTCAATAAATGTGTAATGAGTTTCTGTTACAAGCCAGGAACTGTTCTAGGAGCTGAGGACACAGTGGGGATGGAAATAGGCAAATTCCTGGCCTCCGTGGAGCTTATATTTGACAGGAGAGAGACCATAAATTAATAAGTAAATGAGGCCTGGTACAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTCAGGCGTTCGAGACTAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAATGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATCTCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCCAGGATTGCACCACTACACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAATAAATAAAAATTTTTAAAAATAAGTAAATGTACAAAGTCAAGCTGTGGTGAGTGCTGTTAGGAAATAAAGTAAGAAGATAGGAGTGCTCATGTTTGGAGGTCACGACAGGCCTCCCTGAAGAGGTGGCACTTCAGGAGAGACTGGGACAGTCAGGAGGTGAGTGGGGCATCATCTGGGGGCCTCAGGATAGGAGTGAATTTGAGATGGGGCTTGAGGATGTAGACAGAGACAGACGAGAGAGAGAAACAGTGAGATAGAAGGAGACACCGAGAGACAGAGATAGAGGGGGAGACAGAGCCACTGACACCTCCTTGGAAGGGCAGGATCTTGCTAGAAGGTGCGCAGAGATGTCCCCAGGGTGCCTGGCAGAAGGTCCCTCAAGGGGGTCTGCTCTCACCTCAAGGCCTTGTCCCCTGCCCTGGGGCCCCCTCTGGCCACACAGCTCACAGGGCACTCCTAGTGTCCGGGCTGTCTTTTGTCCCAAGGGCCCAAGGCCCCCAATGTCCCCCGCCGGATCCCACTCCAACTCTGTGGAAGTGGGGAGGCTACTGGGTGCCCAGGGCCCCCAGACCCCACCAGGTCCTGGCCAGTCCGAGTCTCCCTCGACCTCCAAGTCCTGGTCCAGCGTGTTGGCCTCCTCGAACACCTGGGTCAAAGGACAGAGGTCATGGAGGCTATGAGGTTGGGGCCTGGGTTGGGTGGGGGGTATCAAGATGGGCCCTACCAGGCTGTAGCTGACCAGCTGGGCCTGCAGCTGCCAGAGCCGCCGGAAGATGGAGTCTCGGTAAGCTCCCAGGGCCCGCAGGATCTGCTCCAGGGCTGCCCAGGCCCTGGGCTCACTCCGCTGTGCCAGCCCCTCACCAAACGCTAGCAGCGCCTCCACACGCTCAGCTGCCCCTCGTAGGTCCACCTGGAGGGCCTGGGGACATATGGACATCACCCCACGCACACACCAGGGACCCAAAACCTGGAGTTACCCCCCTCCCCCATTTCCTATCCAAAGGCCTGGAACATGCACTCAACCCATTTCCCATCCCGGAAAGCTGGCACCCACTGCTGGGGCCGTGCCCACCCCCACATCCTGGCCTCTCCTGCCTACCTGCAGCTGCACCATCCCACTCTGGGCCAATGCCCAGTGCCCCAGGCCTTGCTCCAGGTCCTGCAGCCGGCGGCCCAGCCCCAGCAGGCACAGGTGCAGGCTGTTCTGCTCAGCCTCTAGTACCTCCAGGCCAGAAATGGGGTGCTGGGGAACACAGGAGCCAGGTCAGGGCCAGTGGGCCAATCAAGATATCACCCCTGCTCCCATCCCCACCCCTCTTCTGTAAGCTTCTGGAAACTTCTCTGTGGCACAGTCCATCTCCGGGTCTGTCTGCACCAGGATGGCTCCCACTGGGGGGGCCTTCCCAGTGGAGCCAGGCCTGAGGACAGATATCTAGTTCAAGGTCTCCAGGTTTTCAAAGCTCCTGGAAACTTGGATGTGTGAGGCCTGGGGGGTCTGGACAGGGAGCGGGGCTGGGTACCCCCCAAGAAGAATGGGGCTACACCAGGAGCAATGATGAAATGCTTCTCAGCCGGGCGCAGTGGTTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCCGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAGACATCATCTCTACTTTTTTTTTTTTAATAAAAAAGAAATATGGCTGGACACGGTGACGCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAACAAGTCGAAAACCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGTGGCTGAGGCAGGAGAATCACTGGGACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATCTCACCACTGCATTCCAGCCTAGGTGACAGAGAGACTCCATCTCAAAAAAAAAAAGAAAGAAAGAAATACGTCTCCCCAGTTGGTCAGATATTGAAACACTTTTCCAGAAGGTCCCTCCCCCTACAGACACCCAACACCTTTCCAGAATCATCACCCGGTCCTCAGTATGGAGGCCAGACTCCAGGGGACAGAGAGGAGGTGGGGCTGGCACAAGGGGTCTGGGTCACCTCAGCTCACCTCACAGTGTTTGCCCCCAGCTGGGTCCTCGTAGGAAGAGGGTGTTGACCATCTCGGGGGGTGAGCGGCAGGCTCATTGCCCCTTGGCCCACCCTGGAAGTGCTCAGGAGGGCCCAAGGAGTCCTGTCCCAGGGTCTGGGCCTGCTCTGGGCTAGGAGGCAGGGGGCGGTGACTGGGTGAGTCTCGACACCTCACTTTTCAGCCTACCGTCACCCCAACCCTGGTGGCCTCTCCTATGTCCCCAGGCGATCACAGCCATGGCACCTCCTACCCTCACATGGCCCCTGCCACCACGCCTACCCTTTTGGGAACAAGCTTCCAAAGCCCCGGCCCCCACCTCGTGCTCTCCTCTCCGGACGCGGGGCAGACGGTGCATCCAACAATGTCCGCCTCTCTAGGTGCTCCCGGTGGGTGGTTGAGGGGCTCTGAGCCAAGTCTAGGGCCCAGAGGCAGG
TGACAGCCACCTCCCCAACTTCCATGATTGGTGTGACCCAGACCTGGCCAATCTGAGCACTCTGGTTTATTCAAGGTGCAGCCCATGACCCCATCCGGTAAGTGGGAGTCAGCCCTGGGACTTTGGCAGCTGTCAGTAGGGTCGGAGGCATGCTCCTTCCCCTGGGGTGGGTAAACCAGTGGGAGTGGCAGTGTAGCCACTGGAGCACCCATTTTGCTAAGAAGGAAGCCACCTTGGGGACTTAGAGCCCAAGAAAGGGAGGGACTGAGCCCTGATGTTATTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGTTGAGATGGGGTCTCACTATGTTGCTCAGACTGGAGTGCAGTGGTGGGATCTCGGCTCACCGCAACCTCCGCCTCCCGGGCTCAAGCGATTCTCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCACACCTGGCTAATTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAGGTAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGGCCCTGGTATTACTTCAGGCTCTGAATTCAACAGTGCCTGGACCTTTCCATTACTTTTTTTTTTTTTAATAGCATTCCCTTTCTTGTGCCTTTTGATTTCTTGGGTTTCTGTCACTTGCCATCAAGATTCCTGAGTGCTACACCTGGTTGAGAACTGGCTCACCTGAGGCTTCCGGAGCAGGGAGTGTCTTTGGTGACGTGCTAAGCGTTTCTGGTGGCCGAGGCCAGACTCCAGCATGTCCTGTCGGGAGTGAGAGGTGTCTGCTTCCTGGAGAACCAGCAACAAAGAAAAACGTGGTTGGGGGAGGGCCAGGATAGGGATGTCATAGAGATGAGATTCTGGGGGAGCAGAGAGATCTCACAGGACAGACAAAGGCAGAGCCAAAGAAACCAAGAGAGGAGAGAATTATTTATTCATTCATTCAATAAATGTGTAATGAGTTTCTGTTACAAGCCAGGAACTGTTCTAGGAGCTGAGGACACAGTGGGGATGGAAATAGGCAAATTCCTGGCCTCCGTGGAGCTTATATTTGACAGGAGAGAGACCATAAATTAATAAGTAAATGAGGCCTGGTACAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTCAGGCGTTCGAGACTAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAATGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATCTCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCCAGGATTGCACCACTACACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAATAAATAAAAATTTTTAAAAATAAGTAAATGTACAAAGTCAAGCTGTGGTGAGTGCTGTTAGGAAATAAAGTAAGAAGATAGGAGTGCTCATGTTTGGAGGTCACGACAGGCCTCCCTGAAGAGGTGGCACTTCAGGAGAGACTGGGACAGTCAGGAGGTGAGTGGGGCATCATCTGGGGGCCTCAGGATAGGAGTGAATTTGAGATGGGGCTTGAGGATGTAGACAGAGACAGACGAGAGAGAGAAACAGTGAGATAGAAGGAGACACCGAGAGACAGAGATAGAGGGGGAGACAGAGCCACTGACACCTCCTTGGAAGGGCAGGATCTTGCTAGAAGGTGCGCAGAGATGTCCCCAGGGTGCCTGGCAGAAGGTCCCTCAAGGGGGTCTGCTCTCACCTCAAGGCCTTGTCCCCTGCCCTGGGGCCCCCTCTGGCCACACAGCTCACAGGGCACTCCTAGTGTCCGGGCTGTCTTTTGTCCCAAGGGCCCAAGGCCCCCAATGTCCCCCGCCGGATCCCACTCCAACTCTGTGGAAGTGGGGAGGCTACTGGGTGCCCAGGGCCCCCAGACCCCACCAGGTCCTGGCCAGTCCGAGTCCGACCTCCAAGTCCTGGTCCAGCGTGTTGGCCTCCTCGAACACCTGGGTCAAAGGACAGAGGTCATGGAGGCTATGAGGTTGGGGCCTGGGTTGGGTGGGGGGTATCAAGATGGGCCCTACCAGGCTGTAGCTGACCAGCTGGGCCTGCAGCTGCCAGAGCCGCCGGAAGATGGAGTCTCGGTAAGCTCCCAGGGCCCGCAGGATCTGCTCCAGGGCTGCCCAGGCCCTGGGCTCACTCCGCTGTGCCAGCCCCTCACCAAACGCTAGCAGCGCCTCCACACGCTCAGCTGCCCCTCGTAGGTCCACCTGGAGGGCCTGGGGACATATGGACATCACCCCACGCACACACCAGGGACCCAAAACCTGGAGTTACCCCCCTCCCCCATTTCCTATCCAAAGGCCTGGAACATGCACTCAACCCATTTCCCATCCCGGAAAGCTGGCACCCACTGCTGGGGCCGTGCCCACCCCCACATCCTGGCCTCTCCTGCCTACCTGCAGCTGCACCATCCCACTCTGGGCCAATGCCCAGTGCCCCAGGCCTTGCTCCAGGTCCTGCAGCCGGCGGCCCAGCCCCAGCAGGCACAGGTGCAGGCTGTTCTGCTCAGCCTCTAGTACCTCCAGGCCAGAAATGGGGTGCTGGGGAACACAGGAGCCAGGTCAGGGCCAGTGGGCCAATCAAGATATCACCCCTGCTCCCATCCCCACCCCTCTTCTGTAAGCTTCTGGAAACTTCTCTGTGGCACAGTCCATCTCCGGGTCTGTCTGCACCAGGATGGCTCCCACTGGGGGGGCCTTCCCAGTGGAGCCAGGCCTGAGGACAGATATCTAGTTCAAGGTCTCCAGGTTTTCAAAGCTCCTGGAAACTTGGATGTGTGAGGCCTGGGGGGTCTGGACAGGGAGCGGGGCTGGGTACCCCCCAAGAAGAATGGGGCTACACCAGGAGCAATGATGAAATGCTTCTCAGCCGGGCGCAGTGGTTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCCGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAGACATCATCTCTACTTTTTTTTTTTTAATAAAAAAGAAATATGGCTGGACACGGTGACGCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAACAAGTCGAAAACCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGTGGCTGAGGCAGGAGAATCACTGGGACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATCTCACCACTGCATTCCAGCCTAGGTGACAGAGAGACTCCATCTCAAAAAAAAAAAGAAAGAAAGAAATACGTCTCCCCAGTTGGTCAGATATTGAAACACTTTTCCAGAAGGTCCCTCCCCCTACAGACACCCAACACCTTTCCAGAATCATCACCCGGTCCTCAGTATGGAGGCCAGACTCCAGGGGACAGAGAGGAGGTGGGGCTGGCACAAGGGGTCTGGGTCACCTCAGCTCACCTCACAGTGTTTGCCCCCAGCTGGGTCCTCGTAGGAAGAGGGTGTTGACCATCTCGGGGGGTGAGCGGCAGGCTCATTGCCCCTTGGCCCACCCTGGAAGTGCTCAGGAGGGCCCAAGGAGTCCTGTCCCAGGGTCTGGGCCTGCTCTGGGCTAGGAGGCAGGGGGCGGTGACTGGGTGAGTCTCGACACCTCACTTTTCAGCCTACCGTCACCCCAACCCTGGTGGCCTCTCCTATGTCCCCAGGCGATCACAGCCATGGCACCTCCTACCCTCACATGGCCCCTGCCACCACGCCTACCCTTTTGGGAACAAGCTTCCAAAGCCCCGGCCCCCACCTCGTGCTCTCCTCTCCGGACGCGGGGCAGACGGTGCATCCAACAATGTCCGCCTCTCTAGGTGCTCCCGGTGGGTGGTTGAGGGGCTCTGAGCCAAGTCTAGGGCCCAGAGGCAGGNNNNN
pathogenic
302,801
The genetic variant at chromosome 19, position 36007170, affecting gene SYNE4 (spectrin repeat containing nuclear envelope family member 4): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_76', 'Nonsyndromic_genetic_hearing_loss']
CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGGCCCTGGTATTACTTCAGGCTCTGAATTCAACAGTGCCTGGACCTTTCCATTACTTTTTTTTTTTTTAATAGCATTCCCTTTCTTGTGCCTTTTGATTTCTTGGGTTTCTGTCACTTGCCATCAAGATTCCTGAGTGCTACACCTGGTTGAGAACTGGCTCACCTGAGGCTTCCGGAGCAGGGAGTGTCTTTGGTGACGTGCTAAGCGTTTCTGGTGGCCGAGGCCAGACTCCAGCATGTCCTGTCGGGAGTGAGAGGTGTCTGCTTCCTGGAGAACCAGCAACAAAGAAAAACGTGGTTGGGGGAGGGCCAGGATAGGGATGTCATAGAGATGAGATTCTGGGGGAGCAGAGAGATCTCACAGGACAGACAAAGGCAGAGCCAAAGAAACCAAGAGAGGAGAGAATTATTTATTCATTCATTCAATAAATGTGTAATGAGTTTCTGTTACAAGCCAGGAACTGTTCTAGGAGCTGAGGACACAGTGGGGATGGAAATAGGCAAATTCCTGGCCTCCGTGGAGCTTATATTTGACAGGAGAGAGACCATAAATTAATAAGTAAATGAGGCCTGGTACAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTCAGGCGTTCGAGACTAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAATGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATCTCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCCAGGATTGCACCACTACACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAATAAATAAAAATTTTTAAAAATAAGTAAATGTACAAAGTCAAGCTGTGGTGAGTGCTGTTAGGAAATAAAGTAAGAAGATAGGAGTGCTCATGTTTGGAGGTCACGACAGGCCTCCCTGAAGAGGTGGCACTTCAGGAGAGACTGGGACAGTCAGGAGGTGAGTGGGGCATCATCTGGGGGCCTCAGGATAGGAGTGAATTTGAGATGGGGCTTGAGGATGTAGACAGAGACAGACGAGAGAGAGAAACAGTGAGATAGAAGGAGACACCGAGAGACAGAGATAGAGGGGGAGACAGAGCCACTGACACCTCCTTGGAAGGGCAGGATCTTGCTAGAAGGTGCGCAGAGATGTCCCCAGGGTGCCTGGCAGAAGGTCCCTCAAGGGGGTCTGCTCTCACCTCAAGGCCTTGTCCCCTGCCCTGGGGCCCCCTCTGGCCACACAGCTCACAGGGCACTCCTAGTGTCCGGGCTGTCTTTTGTCCCAAGGGCCCAAGGCCCCCAATGTCCCCCGCCGGATCCCACTCCAACTCTGTGGAAGTGGGGAGGCTACTGGGTGCCCAGGGCCCCCAGACCCCACCAGGTCCTGGCCAGTCCGAGTCTCCCTCGACCTCCAAGTCCTGGTCCAGCGTGTTGGCCTCCTCGAACACCTGGGTCAAAGGACAGAGGTCATGGAGGCTATGAGGTTGGGGCCTGGGTTGGGTGGGGGGTATCAAGATGGGCCCTACCAGGCTGTAGCTGACCAGCTGGGCCTGCAGCTGCCAGAGCCGCCGGAAGATGGAGTCTCGGTAAGCTCCCAGGGCCCGCAGGATCTGCTCCAGGGCTGCCCAGGCCCTGGGCTCACTCCGCTGTGCCAGCCCCTCACCAAACGCTAGCAGCGCCTCCACACGCTCAGCTGCCCCTCGTAGGTCCACCTGGAGGGCCTGGGGACATATGGACATCACCCCACGCACACACCAGGGACCCAAAACCTGGAGTTACCCCCCTCCCCCATTTCCTATCCAAAGGCCTGGAACATGCACTCAACCCATTTCCCATCCCGGAAAGCTGGCACCCACTGCTGGGGCCGTGCCCACCCCCACATCCTGGCCTCTCCTGCCTACCTGCAGCTGCACCATCCCACTCTGGGCCAATGCCCAGTGCCCCAGGCCTTGCTCCAGGTCCTGCAGCCGGCGGCCCAGCCCCAGCAGGCACAGGTGCAGGCTGTTCTGCTCAGCCTCTAGTACCTCCAGGCCAGAAATGGGGTGCTGGGGAACACAGGAGCCAGGTCAGGGCCAGTGGGCCAATCAAGATATCACCCCTGCTCCCATCCCCACCCCTCTTCTGTAAGCTTCTGGAAACTTCTCTGTGGCACAGTCCATCTCCGGGTCTGTCTGCACCAGGATGGCTCCCACTGGGGGGGCCTTCCCAGTGGAGCCAGGCCTGAGGACAGATATCTAGTTCAAGGTCTCCAGGTTTTCAAAGCTCCTGGAAACTTGGATGTGTGAGGCCTGGGGGGTCTGGACAGGGAGCGGGGCTGGGTACCCCCCAAGAAGAATGGGGCTACACCAGGAGCAATGATGAAATGCTTCTCAGCCGGGCGCAGTGGTTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCCGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAGACATCATCTCTACTTTTTTTTTTTTAATAAAAAAGAAATATGGCTGGACACGGTGACGCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAACAAGTCGAAAACCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGTGGCTGAGGCAGGAGAATCACTGGGACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATCTCACCACTGCATTCCAGCCTAGGTGACAGAGAGACTCCATCTCAAAAAAAAAAAGAAAGAAAGAAATACGTCTCCCCAGTTGGTCAGATATTGAAACACTTTTCCAGAAGGTCCCTCCCCCTACAGACACCCAACACCTTTCCAGAATCATCACCCGGTCCTCAGTATGGAGGCCAGACTCCAGGGGACAGAGAGGAGGTGGGGCTGGCACAAGGGGTCTGGGTCACCTCAGCTCACCTCACAGTGTTTGCCCCCAGCTGGGTCCTCGTAGGAAGAGGGTGTTGACCATCTCGGGGGGTGAGCGGCAGGCTCATTGCCCCTTGGCCCACCCTGGAAGTGCTCAGGAGGGCCCAAGGAGTCCTGTCCCAGGGTCTGGGCCTGCTCTGGGCTAGGAGGCAGGGGGCGGTGACTGGGTGAGTCTCGACACCTCACTTTTCAGCCTACCGTCACCCCAACCCTGGTGGCCTCTCCTATGTCCCCAGGCGATCACAGCCATGGCACCTCCTACCCTCACATGGCCCCTGCCACCACGCCTACCCTTTTGGGAACAAGCTTCCAAAGCCCCGGCCCCCACCTCGTGCTCTCCTCTCCGGACGCGGGGCAGACGGTGCATCCAACAATGTCCGCCTCTCTAGGTGCTCCCGGTGGGTGGTTGAGGGGCTCTGAGCCAAGTCTAGGGCCCAGAGGCAGGGACAGGGCCATGGCTGGGGGCCTGGGGACACAAAGTCAGGTGAGGGCAGCCAGTAAGACCTCTTCCCTAGACAAGGGTGTCCCAGAGCTCCTCCGCTGGAGTCACCCGGGCCTGAGGCTGCAGGAGAGGCCCAGGACAGGTCTGGCTCCGCCCCTTCCAAGAGGAACCTGGACCCGGCCATTTGATGCCCAGCTCAGGTGACAGAAGAGTCACTTAACTCCTTCCTCCCTAGCAGGCCAGTAGCTAAATCTCCCAGCATCACTCCACGCCATCCAAGAGGGTTCCAGATAGAACCCCTGCGCCACCTCCTCAAGAGCCCTGGATTCTGCCCCACTGGGAACCCAGAAATCGGACCTCCAGGGCCTACCCCATTCATTTAAGACCCTAGATGCCGCTCCCCTCAGGAAACCAAGCATCTGGCCCCTAAAAAATAAAAATATAAAACCAAGGAAAGATTTTTTTGTTTATTTGGTATGGGGTCTTCTGTAGCTCACACAAAATTATTGGGAAAATAAATAACCCAGGGGAGCCCCCTTTGCCCACGGTT
CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGGCCCTGGTATTACTTCAGGCTCTGAATTCAACAGTGCCTGGACCTTTCCATTACTTTTTTTTTTTTTAATAGCATTCCCTTTCTTGTGCCTTTTGATTTCTTGGGTTTCTGTCACTTGCCATCAAGATTCCTGAGTGCTACACCTGGTTGAGAACTGGCTCACCTGAGGCTTCCGGAGCAGGGAGTGTCTTTGGTGACGTGCTAAGCGTTTCTGGTGGCCGAGGCCAGACTCCAGCATGTCCTGTCGGGAGTGAGAGGTGTCTGCTTCCTGGAGAACCAGCAACAAAGAAAAACGTGGTTGGGGGAGGGCCAGGATAGGGATGTCATAGAGATGAGATTCTGGGGGAGCAGAGAGATCTCACAGGACAGACAAAGGCAGAGCCAAAGAAACCAAGAGAGGAGAGAATTATTTATTCATTCATTCAATAAATGTGTAATGAGTTTCTGTTACAAGCCAGGAACTGTTCTAGGAGCTGAGGACACAGTGGGGATGGAAATAGGCAAATTCCTGGCCTCCGTGGAGCTTATATTTGACAGGAGAGAGACCATAAATTAATAAGTAAATGAGGCCTGGTACAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTCAGGCGTTCGAGACTAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAATGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATCTCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCCAGGATTGCACCACTACACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAATAAATAAAAATTTTTAAAAATAAGTAAATGTACAAAGTCAAGCTGTGGTGAGTGCTGTTAGGAAATAAAGTAAGAAGATAGGAGTGCTCATGTTTGGAGGTCACGACAGGCCTCCCTGAAGAGGTGGCACTTCAGGAGAGACTGGGACAGTCAGGAGGTGAGTGGGGCATCATCTGGGGGCCTCAGGATAGGAGTGAATTTGAGATGGGGCTTGAGGATGTAGACAGAGACAGACGAGAGAGAGAAACAGTGAGATAGAAGGAGACACCGAGAGACAGAGATAGAGGGGGAGACAGAGCCACTGACACCTCCTTGGAAGGGCAGGATCTTGCTAGAAGGTGCGCAGAGATGTCCCCAGGGTGCCTGGCAGAAGGTCCCTCAAGGGGGTCTGCTCTCACCTCAAGGCCTTGTCCCCTGCCCTGGGGCCCCCTCTGGCCACACAGCTCACAGGGCACTCCTAGTGTCCGGGCTGTCTTTTGTCCCAAGGGCCCAAGGCCCCCAATGTCCCCCGCCGGATCCCACTCCAACTCTGTGGAAGTGGGGAGGCTACTGGGTGCCCAGGGCCCCCAGACCCCACCAGGTCCTGGCCAGTCCGAGTCTCCCTCGACCTCCAAGTCCTGGTCCAGCGTGTTGGCCTCCTCGAACACCTGGGTCAAAGGACAGAGGTCATGGAGGCTATGAGGTTGGGGCCTGGGTTGGGTGGGGGGTATCAAGATGGGCCCTACCAGGCTGTAGCTGACCAGCTGGGCCTGCAGCTGCCAGAGCCGCCGGAAGATGGAGTCTCGGTAAGCTCCCAGGGCCCGCAGGATCTGCTCCAGGGCTGCCCAGGCCCTGGGCTCACTCCGCTGTGCCAGCCCCTCACCAAACGCTAGCAGCGCCTCCACACGCTCAGCTGCCCCTCGTAGGTCCACCTGGAGGGCCTGGGGACATATGGACATCACCCCACGCACACACCAGGGACCCAAAACCTGGAGTTACCCCCCTCCCCCATTTCCTATCCAAAGGCCTGGAACATGCACTCAACCCATTTCCCATCCCGGAAAGCTGGCACCCACTGCTGGGGCCGTGCCCACCCCCACATCCTGGCCTCTCCTGCCTACCTGCAGCTGCACCATCCCACTCTGGGCCAATGCCCAGTGCCCCAGGCTTGCTCCAGGTCCTGCAGCCGGCGGCCCAGCCCCAGCAGGCACAGGTGCAGGCTGTTCTGCTCAGCCTCTAGTACCTCCAGGCCAGAAATGGGGTGCTGGGGAACACAGGAGCCAGGTCAGGGCCAGTGGGCCAATCAAGATATCACCCCTGCTCCCATCCCCACCCCTCTTCTGTAAGCTTCTGGAAACTTCTCTGTGGCACAGTCCATCTCCGGGTCTGTCTGCACCAGGATGGCTCCCACTGGGGGGGCCTTCCCAGTGGAGCCAGGCCTGAGGACAGATATCTAGTTCAAGGTCTCCAGGTTTTCAAAGCTCCTGGAAACTTGGATGTGTGAGGCCTGGGGGGTCTGGACAGGGAGCGGGGCTGGGTACCCCCCAAGAAGAATGGGGCTACACCAGGAGCAATGATGAAATGCTTCTCAGCCGGGCGCAGTGGTTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCCGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAGACATCATCTCTACTTTTTTTTTTTTAATAAAAAAGAAATATGGCTGGACACGGTGACGCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAACAAGTCGAAAACCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGTGGCTGAGGCAGGAGAATCACTGGGACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATCTCACCACTGCATTCCAGCCTAGGTGACAGAGAGACTCCATCTCAAAAAAAAAAAGAAAGAAAGAAATACGTCTCCCCAGTTGGTCAGATATTGAAACACTTTTCCAGAAGGTCCCTCCCCCTACAGACACCCAACACCTTTCCAGAATCATCACCCGGTCCTCAGTATGGAGGCCAGACTCCAGGGGACAGAGAGGAGGTGGGGCTGGCACAAGGGGTCTGGGTCACCTCAGCTCACCTCACAGTGTTTGCCCCCAGCTGGGTCCTCGTAGGAAGAGGGTGTTGACCATCTCGGGGGGTGAGCGGCAGGCTCATTGCCCCTTGGCCCACCCTGGAAGTGCTCAGGAGGGCCCAAGGAGTCCTGTCCCAGGGTCTGGGCCTGCTCTGGGCTAGGAGGCAGGGGGCGGTGACTGGGTGAGTCTCGACACCTCACTTTTCAGCCTACCGTCACCCCAACCCTGGTGGCCTCTCCTATGTCCCCAGGCGATCACAGCCATGGCACCTCCTACCCTCACATGGCCCCTGCCACCACGCCTACCCTTTTGGGAACAAGCTTCCAAAGCCCCGGCCCCCACCTCGTGCTCTCCTCTCCGGACGCGGGGCAGACGGTGCATCCAACAATGTCCGCCTCTCTAGGTGCTCCCGGTGGGTGGTTGAGGGGCTCTGAGCCAAGTCTAGGGCCCAGAGGCAGGGACAGGGCCATGGCTGGGGGCCTGGGGACACAAAGTCAGGTGAGGGCAGCCAGTAAGACCTCTTCCCTAGACAAGGGTGTCCCAGAGCTCCTCCGCTGGAGTCACCCGGGCCTGAGGCTGCAGGAGAGGCCCAGGACAGGTCTGGCTCCGCCCCTTCCAAGAGGAACCTGGACCCGGCCATTTGATGCCCAGCTCAGGTGACAGAAGAGTCACTTAACTCCTTCCTCCCTAGCAGGCCAGTAGCTAAATCTCCCAGCATCACTCCACGCCATCCAAGAGGGTTCCAGATAGAACCCCTGCGCCACCTCCTCAAGAGCCCTGGATTCTGCCCCACTGGGAACCCAGAAATCGGACCTCCAGGGCCTACCCCATTCATTTAAGACCCTAGATGCCGCTCCCCTCAGGAAACCAAGCATCTGGCCCCTAAAAAATAAAAATATAAAACCAAGGAAAGATTTTTTTGTTTATTTGGTATGGGGTCTTCTGTAGCTCACACAAAATTATTGGGAAAATAAATAACCCAGGGGAGCCCCCTTTGCCCACGGTTN
pathogenic
302,810
Variant in gene SYNE4 (spectrin repeat containing nuclear envelope family member 4), located at chromosome 19 position 36008236: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_76']
GGGGCATCATCTGGGGGCCTCAGGATAGGAGTGAATTTGAGATGGGGCTTGAGGATGTAGACAGAGACAGACGAGAGAGAGAAACAGTGAGATAGAAGGAGACACCGAGAGACAGAGATAGAGGGGGAGACAGAGCCACTGACACCTCCTTGGAAGGGCAGGATCTTGCTAGAAGGTGCGCAGAGATGTCCCCAGGGTGCCTGGCAGAAGGTCCCTCAAGGGGGTCTGCTCTCACCTCAAGGCCTTGTCCCCTGCCCTGGGGCCCCCTCTGGCCACACAGCTCACAGGGCACTCCTAGTGTCCGGGCTGTCTTTTGTCCCAAGGGCCCAAGGCCCCCAATGTCCCCCGCCGGATCCCACTCCAACTCTGTGGAAGTGGGGAGGCTACTGGGTGCCCAGGGCCCCCAGACCCCACCAGGTCCTGGCCAGTCCGAGTCTCCCTCGACCTCCAAGTCCTGGTCCAGCGTGTTGGCCTCCTCGAACACCTGGGTCAAAGGACAGAGGTCATGGAGGCTATGAGGTTGGGGCCTGGGTTGGGTGGGGGGTATCAAGATGGGCCCTACCAGGCTGTAGCTGACCAGCTGGGCCTGCAGCTGCCAGAGCCGCCGGAAGATGGAGTCTCGGTAAGCTCCCAGGGCCCGCAGGATCTGCTCCAGGGCTGCCCAGGCCCTGGGCTCACTCCGCTGTGCCAGCCCCTCACCAAACGCTAGCAGCGCCTCCACACGCTCAGCTGCCCCTCGTAGGTCCACCTGGAGGGCCTGGGGACATATGGACATCACCCCACGCACACACCAGGGACCCAAAACCTGGAGTTACCCCCCTCCCCCATTTCCTATCCAAAGGCCTGGAACATGCACTCAACCCATTTCCCATCCCGGAAAGCTGGCACCCACTGCTGGGGCCGTGCCCACCCCCACATCCTGGCCTCTCCTGCCTACCTGCAGCTGCACCATCCCACTCTGGGCCAATGCCCAGTGCCCCAGGCCTTGCTCCAGGTCCTGCAGCCGGCGGCCCAGCCCCAGCAGGCACAGGTGCAGGCTGTTCTGCTCAGCCTCTAGTACCTCCAGGCCAGAAATGGGGTGCTGGGGAACACAGGAGCCAGGTCAGGGCCAGTGGGCCAATCAAGATATCACCCCTGCTCCCATCCCCACCCCTCTTCTGTAAGCTTCTGGAAACTTCTCTGTGGCACAGTCCATCTCCGGGTCTGTCTGCACCAGGATGGCTCCCACTGGGGGGGCCTTCCCAGTGGAGCCAGGCCTGAGGACAGATATCTAGTTCAAGGTCTCCAGGTTTTCAAAGCTCCTGGAAACTTGGATGTGTGAGGCCTGGGGGGTCTGGACAGGGAGCGGGGCTGGGTACCCCCCAAGAAGAATGGGGCTACACCAGGAGCAATGATGAAATGCTTCTCAGCCGGGCGCAGTGGTTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCCGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAGACATCATCTCTACTTTTTTTTTTTTAATAAAAAAGAAATATGGCTGGACACGGTGACGCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAACAAGTCGAAAACCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGTGGCTGAGGCAGGAGAATCACTGGGACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATCTCACCACTGCATTCCAGCCTAGGTGACAGAGAGACTCCATCTCAAAAAAAAAAAGAAAGAAAGAAATACGTCTCCCCAGTTGGTCAGATATTGAAACACTTTTCCAGAAGGTCCCTCCCCCTACAGACACCCAACACCTTTCCAGAATCATCACCCGGTCCTCAGTATGGAGGCCAGACTCCAGGGGACAGAGAGGAGGTGGGGCTGGCACAAGGGGTCTGGGTCACCTCAGCTCACCTCACAGTGTTTGCCCCCAGCTGGGTCCTCGTAGGAAGAGGGTGTTGACCATCTCGGGGGGTGAGCGGCAGGCTCATTGCCCCTTGGCCCACCCTGGAAGTGCTCAGGAGGGCCCAAGGAGTCCTGTCCCAGGGTCTGGGCCTGCTCTGGGCTAGGAGGCAGGGGGCGGTGACTGGGTGAGTCTCGACACCTCACTTTTCAGCCTACCGTCACCCCAACCCTGGTGGCCTCTCCTATGTCCCCAGGCGATCACAGCCATGGCACCTCCTACCCTCACATGGCCCCTGCCACCACGCCTACCCTTTTGGGAACAAGCTTCCAAAGCCCCGGCCCCCACCTCGTGCTCTCCTCTCCGGACGCGGGGCAGACGGTGCATCCAACAATGTCCGCCTCTCTAGGTGCTCCCGGTGGGTGGTTGAGGGGCTCTGAGCCAAGTCTAGGGCCCAGAGGCAGGGACAGGGCCATGGCTGGGGGCCTGGGGACACAAAGTCAGGTGAGGGCAGCCAGTAAGACCTCTTCCCTAGACAAGGGTGTCCCAGAGCTCCTCCGCTGGAGTCACCCGGGCCTGAGGCTGCAGGAGAGGCCCAGGACAGGTCTGGCTCCGCCCCTTCCAAGAGGAACCTGGACCCGGCCATTTGATGCCCAGCTCAGGTGACAGAAGAGTCACTTAACTCCTTCCTCCCTAGCAGGCCAGTAGCTAAATCTCCCAGCATCACTCCACGCCATCCAAGAGGGTTCCAGATAGAACCCCTGCGCCACCTCCTCAAGAGCCCTGGATTCTGCCCCACTGGGAACCCAGAAATCGGACCTCCAGGGCCTACCCCATTCATTTAAGACCCTAGATGCCGCTCCCCTCAGGAAACCAAGCATCTGGCCCCTAAAAAATAAAAATATAAAACCAAGGAAAGATTTTTTTGTTTATTTGGTATGGGGTCTTCTGTAGCTCACACAAAATTATTGGGAAAATAAATAACCCAGGGGAGCCCCCTTTGCCCACGGTTCCTAGGTCGCGGAGTCACAGCAGCCCCAAAGGGGCAGGAACCTGGGAATCCGAGGGGTCCCGGCCCTGGCGGTCACTTGCCCAGCAGGAGGCCGGCGCGCAGCACGCGGGGCACGCGGCGGATGGTCAGCGAGACCCGGGTGCCGCGCACCAGGCAGGCTCCCGGCCGCGCCGACGGGCAGGCTGCCGCATTGGGCGGCGAGGAGGCGGCGTCCAGCGCGTCTACGCGGGCGGCGGCGATGCCGTGGAGAAGACGCGTGTAGGCGGGGCCGCGGAGCACCAGCAGGCTGCGCGGTTCCAGCAGTAGCGAGGTGGTGGGCCGGGGCGGAGGCCGAGGCTGCAGGGCGGGTTGAGGGTCAGCAGGGCTCAAGAAGTCGGGGGGTGGGGGTGGGCGAGAGGTCGGTAGCCTCCGGGGATCAGCTAGTCCCCAGGGGCAAAAGCTGAAGAGCAAGTGTGCTCACAATGATGGAGGCTTTGGTGGTTCAGGAGTGAAAATTGCTGGGGCCTGGGCTGGGGCTGCTGGAAAGGGAGGGCGAGGGCTCTGCCGTCCCTCGGGAGGGGGCAGGATCTAGGTGGCAGATGGGGGCGTCAAAGGGTCAGCGGCCGGTGGGAGCTGCAGCTGGGATCTCAAAGGGGCTGAGGCTGGGGCTGGGACCCAGGAATAGGCAGTCCCCAGGAAATACAGGCAGAGCTGGGCTGAGAGAGCATGGCTGAAGCCAGGACCAGGTGAGGAGAGAGTGAGGCAGAGGTTAGAGGCAGTGGGGGTTCCCAAGGACATCAGGACATTAGAGGACAACCGCACAGCTGAGGGAGTGTCAGAGCATCCAGGAGCATGCAGGGCTCGAGGGCAAGCCTCAAGGAGTGGGTCGGCGTGTTCAGGGGCGTTTCTGTGAACACTGGGGTGCTAGAAATGCATCACTCAGAGAAATTGTGTCAAGGGGTCAAGGAGAATCTGGGGGTGTCCTGCACCCCAAATCACATTCCTGGAGTAGCAGGACGTCTGGGGCACCCTGAGCAGGGGCAGATAGAGCATCTGGGAGGAGGTGAGGCCCCCCGAGTTAATGGCG
GGGGCATCATCTGGGGGCCTCAGGATAGGAGTGAATTTGAGATGGGGCTTGAGGATGTAGACAGAGACAGACGAGAGAGAGAAACAGTGAGATAGAAGGAGACACCGAGAGACAGAGATAGAGGGGGAGACAGAGCCACTGACACCTCCTTGGAAGGGCAGGATCTTGCTAGAAGGTGCGCAGAGATGTCCCCAGGGTGCCTGGCAGAAGGTCCCTCAAGGGGGTCTGCTCTCACCTCAAGGCCTTGTCCCCTGCCCTGGGGCCCCCTCTGGCCACACAGCTCACAGGGCACTCCTAGTGTCCGGGCTGTCTTTTGTCCCAAGGGCCCAAGGCCCCCAATGTCCCCCGCCGGATCCCACTCCAACTCTGTGGAAGTGGGGAGGCTACTGGGTGCCCAGGGCCCCCAGACCCCACCAGGTCCTGGCCAGTCCGAGTCTCCCTCGACCTCCAAGTCCTGGTCCAGCGTGTTGGCCTCCTCGAACACCTGGGTCAAAGGACAGAGGTCATGGAGGCTATGAGGTTGGGGCCTGGGTTGGGTGGGGGGTATCAAGATGGGCCCTACCAGGCTGTAGCTGACCAGCTGGGCCTGCAGCTGCCAGAGCCGCCGGAAGATGGAGTCTCGGTAAGCTCCCAGGGCCCGCAGGATCTGCTCCAGGGCTGCCCAGGCCCTGGGCTCACTCCGCTGTGCCAGCCCCTCACCAAACGCTAGCAGCGCCTCCACACGCTCAGCTGCCCCTCGTAGGTCCACCTGGAGGGCCTGGGGACATATGGACATCACCCCACGCACACACCAGGGACCCAAAACCTGGAGTTACCCCCCTCCCCCATTTCCTATCCAAAGGCCTGGAACATGCACTCAACCCATTTCCCATCCCGGAAAGCTGGCACCCACTGCTGGGGCCGTGCCCACCCCCACATCCTGGCCTCTCCTGCCTACCTGCAGCTGCACCATCCCACTCTGGGCCAATGCCCAGTGCCCCAGGCCTTGCTCCAGGTCCTGCAGCCGGCGGCCCAGCCCCAGCAGGCACAGGTGCAGGCTGTTCTGCTCAGCCTCTAGTACCTCCAGGCCAGAAATGGGGTGCTGGGGAACACAGGAGCCAGGTCAGGGCCAGTGGGCCAATCAAGATATCACCCCTGCTCCCATCCCCACCCCTCTTCTGTAAGCTTCTGGAAACTTCTCTGTGGCACAGTCCATCTCCGGGTCTGTCTGCACCAGGATGGCTCCCACTGGGGGGGCCTTCCCAGTGGAGCCAGGCCTGAGGACAGATATCTAGTTCAAGGTCTCCAGGTTTTCAAAGCTCCTGGAAACTTGGATGTGTGAGGCCTGGGGGGTCTGGACAGGGAGCGGGGCTGGGTACCCCCCAAGAAGAATGGGGCTACACCAGGAGCAATGATGAAATGCTTCTCAGCCGGGCGCAGTGGTTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCCGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAGACATCATCTCTACTTTTTTTTTTTTAATAAAAAAGAAATATGGCTGGACACGGTGACGCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAACAAGTCGAAAACCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGTGGCTGAGGCAGGAGAATCACTGGGACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATCTCACCACTGCATTCCAGCCTAGGTGACAGAGAGACTCCATCTCAAAAAAAAAAAGAAAGAAAGAAATACGTCTCCCCAGTTGGTCAGATATTGAAACACTTTTCCAGAAGGTCCCTCCCCCTACAGACACCCAACACCTTTCCAGAATCATCACCCGGTCCTCAGTATGGAGGCCAGACTCCAGGGGACAGAGAGGAGGTGGGGCTGGCACAAGGGGTCTGGGTCACCTCAGCTCACCTCACAGTGTTTGCCCCCAGCTGGGTCCTGGGTCCTCGTAGGAAGAGGGTGTTGACCATCTCGGGGGGTGAGCGGCAGGCTCATTGCCCCTTGGCCCACCCTGGAAGTGCTCAGGAGGGCCCAAGGAGTCCTGTCCCAGGGTCTGGGCCTGCTCTGGGCTAGGAGGCAGGGGGCGGTGACTGGGTGAGTCTCGACACCTCACTTTTCAGCCTACCGTCACCCCAACCCTGGTGGCCTCTCCTATGTCCCCAGGCGATCACAGCCATGGCACCTCCTACCCTCACATGGCCCCTGCCACCACGCCTACCCTTTTGGGAACAAGCTTCCAAAGCCCCGGCCCCCACCTCGTGCTCTCCTCTCCGGACGCGGGGCAGACGGTGCATCCAACAATGTCCGCCTCTCTAGGTGCTCCCGGTGGGTGGTTGAGGGGCTCTGAGCCAAGTCTAGGGCCCAGAGGCAGGGACAGGGCCATGGCTGGGGGCCTGGGGACACAAAGTCAGGTGAGGGCAGCCAGTAAGACCTCTTCCCTAGACAAGGGTGTCCCAGAGCTCCTCCGCTGGAGTCACCCGGGCCTGAGGCTGCAGGAGAGGCCCAGGACAGGTCTGGCTCCGCCCCTTCCAAGAGGAACCTGGACCCGGCCATTTGATGCCCAGCTCAGGTGACAGAAGAGTCACTTAACTCCTTCCTCCCTAGCAGGCCAGTAGCTAAATCTCCCAGCATCACTCCACGCCATCCAAGAGGGTTCCAGATAGAACCCCTGCGCCACCTCCTCAAGAGCCCTGGATTCTGCCCCACTGGGAACCCAGAAATCGGACCTCCAGGGCCTACCCCATTCATTTAAGACCCTAGATGCCGCTCCCCTCAGGAAACCAAGCATCTGGCCCCTAAAAAATAAAAATATAAAACCAAGGAAAGATTTTTTTGTTTATTTGGTATGGGGTCTTCTGTAGCTCACACAAAATTATTGGGAAAATAAATAACCCAGGGGAGCCCCCTTTGCCCACGGTTCCTAGGTCGCGGAGTCACAGCAGCCCCAAAGGGGCAGGAACCTGGGAATCCGAGGGGTCCCGGCCCTGGCGGTCACTTGCCCAGCAGGAGGCCGGCGCGCAGCACGCGGGGCACGCGGCGGATGGTCAGCGAGACCCGGGTGCCGCGCACCAGGCAGGCTCCCGGCCGCGCCGACGGGCAGGCTGCCGCATTGGGCGGCGAGGAGGCGGCGTCCAGCGCGTCTACGCGGGCGGCGGCGATGCCGTGGAGAAGACGCGTGTAGGCGGGGCCGCGGAGCACCAGCAGGCTGCGCGGTTCCAGCAGTAGCGAGGTGGTGGGCCGGGGCGGAGGCCGAGGCTGCAGGGCGGGTTGAGGGTCAGCAGGGCTCAAGAAGTCGGGGGGTGGGGGTGGGCGAGAGGTCGGTAGCCTCCGGGGATCAGCTAGTCCCCAGGGGCAAAAGCTGAAGAGCAAGTGTGCTCACAATGATGGAGGCTTTGGTGGTTCAGGAGTGAAAATTGCTGGGGCCTGGGCTGGGGCTGCTGGAAAGGGAGGGCGAGGGCTCTGCCGTCCCTCGGGAGGGGGCAGGATCTAGGTGGCAGATGGGGGCGTCAAAGGGTCAGCGGCCGGTGGGAGCTGCAGCTGGGATCTCAAAGGGGCTGAGGCTGGGGCTGGGACCCAGGAATAGGCAGTCCCCAGGAAATACAGGCAGAGCTGGGCTGAGAGAGCATGGCTGAAGCCAGGACCAGGTGAGGAGAGAGTGAGGCAGAGGTTAGAGGCAGTGGGGGTTCCCAAGGACATCAGGACATTAGAGGACAACCGCACAGCTGAGGGAGTGTCAGAGCATCCAGGAGCATGCAGGGCTCGAGGGCAAGCCTCAAGGAGTGGGTCGGCGTGTTCAGGGGCGTTTCTGTGAACACTGGGGTGCTAGAAATGCATCACTCAGAGAAATTGTGTCAAGGGGTCAAGGAGAATCTGGGGGTGTCCTGCACCCCAAATCACATTCCTGGAGTAGCAGGACGTCTGGGGCACCCTGAGCAGGGGCAGATAGAGCATCTGGGAGGAGGTGAGGCCCCCCGAGTT
pathogenic
302,814
A genetic variant on chromosome 19, position 36008559, affects the gene SYNE4 (spectrin repeat containing nuclear envelope family member 4). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_76']
GGCCCAAGGCCCCCAATGTCCCCCGCCGGATCCCACTCCAACTCTGTGGAAGTGGGGAGGCTACTGGGTGCCCAGGGCCCCCAGACCCCACCAGGTCCTGGCCAGTCCGAGTCTCCCTCGACCTCCAAGTCCTGGTCCAGCGTGTTGGCCTCCTCGAACACCTGGGTCAAAGGACAGAGGTCATGGAGGCTATGAGGTTGGGGCCTGGGTTGGGTGGGGGGTATCAAGATGGGCCCTACCAGGCTGTAGCTGACCAGCTGGGCCTGCAGCTGCCAGAGCCGCCGGAAGATGGAGTCTCGGTAAGCTCCCAGGGCCCGCAGGATCTGCTCCAGGGCTGCCCAGGCCCTGGGCTCACTCCGCTGTGCCAGCCCCTCACCAAACGCTAGCAGCGCCTCCACACGCTCAGCTGCCCCTCGTAGGTCCACCTGGAGGGCCTGGGGACATATGGACATCACCCCACGCACACACCAGGGACCCAAAACCTGGAGTTACCCCCCTCCCCCATTTCCTATCCAAAGGCCTGGAACATGCACTCAACCCATTTCCCATCCCGGAAAGCTGGCACCCACTGCTGGGGCCGTGCCCACCCCCACATCCTGGCCTCTCCTGCCTACCTGCAGCTGCACCATCCCACTCTGGGCCAATGCCCAGTGCCCCAGGCCTTGCTCCAGGTCCTGCAGCCGGCGGCCCAGCCCCAGCAGGCACAGGTGCAGGCTGTTCTGCTCAGCCTCTAGTACCTCCAGGCCAGAAATGGGGTGCTGGGGAACACAGGAGCCAGGTCAGGGCCAGTGGGCCAATCAAGATATCACCCCTGCTCCCATCCCCACCCCTCTTCTGTAAGCTTCTGGAAACTTCTCTGTGGCACAGTCCATCTCCGGGTCTGTCTGCACCAGGATGGCTCCCACTGGGGGGGCCTTCCCAGTGGAGCCAGGCCTGAGGACAGATATCTAGTTCAAGGTCTCCAGGTTTTCAAAGCTCCTGGAAACTTGGATGTGTGAGGCCTGGGGGGTCTGGACAGGGAGCGGGGCTGGGTACCCCCCAAGAAGAATGGGGCTACACCAGGAGCAATGATGAAATGCTTCTCAGCCGGGCGCAGTGGTTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCCGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAGACATCATCTCTACTTTTTTTTTTTTAATAAAAAAGAAATATGGCTGGACACGGTGACGCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAACAAGTCGAAAACCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGTGGCTGAGGCAGGAGAATCACTGGGACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATCTCACCACTGCATTCCAGCCTAGGTGACAGAGAGACTCCATCTCAAAAAAAAAAAGAAAGAAAGAAATACGTCTCCCCAGTTGGTCAGATATTGAAACACTTTTCCAGAAGGTCCCTCCCCCTACAGACACCCAACACCTTTCCAGAATCATCACCCGGTCCTCAGTATGGAGGCCAGACTCCAGGGGACAGAGAGGAGGTGGGGCTGGCACAAGGGGTCTGGGTCACCTCAGCTCACCTCACAGTGTTTGCCCCCAGCTGGGTCCTCGTAGGAAGAGGGTGTTGACCATCTCGGGGGGTGAGCGGCAGGCTCATTGCCCCTTGGCCCACCCTGGAAGTGCTCAGGAGGGCCCAAGGAGTCCTGTCCCAGGGTCTGGGCCTGCTCTGGGCTAGGAGGCAGGGGGCGGTGACTGGGTGAGTCTCGACACCTCACTTTTCAGCCTACCGTCACCCCAACCCTGGTGGCCTCTCCTATGTCCCCAGGCGATCACAGCCATGGCACCTCCTACCCTCACATGGCCCCTGCCACCACGCCTACCCTTTTGGGAACAAGCTTCCAAAGCCCCGGCCCCCACCTCGTGCTCTCCTCTCCGGACGCGGGGCAGACGGTGCATCCAACAATGTCCGCCTCTCTAGGTGCTCCCGGTGGGTGGTTGAGGGGCTCTGAGCCAAGTCTAGGGCCCAGAGGCAGGGACAGGGCCATGGCTGGGGGCCTGGGGACACAAAGTCAGGTGAGGGCAGCCAGTAAGACCTCTTCCCTAGACAAGGGTGTCCCAGAGCTCCTCCGCTGGAGTCACCCGGGCCTGAGGCTGCAGGAGAGGCCCAGGACAGGTCTGGCTCCGCCCCTTCCAAGAGGAACCTGGACCCGGCCATTTGATGCCCAGCTCAGGTGACAGAAGAGTCACTTAACTCCTTCCTCCCTAGCAGGCCAGTAGCTAAATCTCCCAGCATCACTCCACGCCATCCAAGAGGGTTCCAGATAGAACCCCTGCGCCACCTCCTCAAGAGCCCTGGATTCTGCCCCACTGGGAACCCAGAAATCGGACCTCCAGGGCCTACCCCATTCATTTAAGACCCTAGATGCCGCTCCCCTCAGGAAACCAAGCATCTGGCCCCTAAAAAATAAAAATATAAAACCAAGGAAAGATTTTTTTGTTTATTTGGTATGGGGTCTTCTGTAGCTCACACAAAATTATTGGGAAAATAAATAACCCAGGGGAGCCCCCTTTGCCCACGGTTCCTAGGTCGCGGAGTCACAGCAGCCCCAAAGGGGCAGGAACCTGGGAATCCGAGGGGTCCCGGCCCTGGCGGTCACTTGCCCAGCAGGAGGCCGGCGCGCAGCACGCGGGGCACGCGGCGGATGGTCAGCGAGACCCGGGTGCCGCGCACCAGGCAGGCTCCCGGCCGCGCCGACGGGCAGGCTGCCGCATTGGGCGGCGAGGAGGCGGCGTCCAGCGCGTCTACGCGGGCGGCGGCGATGCCGTGGAGAAGACGCGTGTAGGCGGGGCCGCGGAGCACCAGCAGGCTGCGCGGTTCCAGCAGTAGCGAGGTGGTGGGCCGGGGCGGAGGCCGAGGCTGCAGGGCGGGTTGAGGGTCAGCAGGGCTCAAGAAGTCGGGGGGTGGGGGTGGGCGAGAGGTCGGTAGCCTCCGGGGATCAGCTAGTCCCCAGGGGCAAAAGCTGAAGAGCAAGTGTGCTCACAATGATGGAGGCTTTGGTGGTTCAGGAGTGAAAATTGCTGGGGCCTGGGCTGGGGCTGCTGGAAAGGGAGGGCGAGGGCTCTGCCGTCCCTCGGGAGGGGGCAGGATCTAGGTGGCAGATGGGGGCGTCAAAGGGTCAGCGGCCGGTGGGAGCTGCAGCTGGGATCTCAAAGGGGCTGAGGCTGGGGCTGGGACCCAGGAATAGGCAGTCCCCAGGAAATACAGGCAGAGCTGGGCTGAGAGAGCATGGCTGAAGCCAGGACCAGGTGAGGAGAGAGTGAGGCAGAGGTTAGAGGCAGTGGGGGTTCCCAAGGACATCAGGACATTAGAGGACAACCGCACAGCTGAGGGAGTGTCAGAGCATCCAGGAGCATGCAGGGCTCGAGGGCAAGCCTCAAGGAGTGGGTCGGCGTGTTCAGGGGCGTTTCTGTGAACACTGGGGTGCTAGAAATGCATCACTCAGAGAAATTGTGTCAAGGGGTCAAGGAGAATCTGGGGGTGTCCTGCACCCCAAATCACATTCCTGGAGTAGCAGGACGTCTGGGGCACCCTGAGCAGGGGCAGATAGAGCATCTGGGAGGAGGTGAGGCCCCCCGAGTTAATGGCGGTGGGGTATCTAAGGATATCAGTGTCTGCTGGGGAGTCAGGGGTATCCATTCAGCAGGTTGGGGCATCGGGGAGCCTGTGAAAATCATGGCATGTGGGACAGACACCCTGTAAGCAGATGGGTTGGGTGTCTGGGAGGAAGTGGGTACACCCCATGAGGGGACAAGGGAAGGTATCTGGGAGAGTGCCAGGAGTACCCCGAAGGCATGTGGGACCAGGTCATCTTGGAGGATGTGCGAGGTTGAAGTGCCTACAAGCAGCTGGGGCAGTGTCTGGGGGCCCACCTGTTCTGTAGGGTCATCGTCCTCTGGCCGCCGCGGCTCG
GGCCCAAGGCCCCCAATGTCCCCCGCCGGATCCCACTCCAACTCTGTGGAAGTGGGGAGGCTACTGGGTGCCCAGGGCCCCCAGACCCCACCAGGTCCTGGCCAGTCCGAGTCTCCCTCGACCTCCAAGTCCTGGTCCAGCGTGTTGGCCTCCTCGAACACCTGGGTCAAAGGACAGAGGTCATGGAGGCTATGAGGTTGGGGCCTGGGTTGGGTGGGGGGTATCAAGATGGGCCCTACCAGGCTGTAGCTGACCAGCTGGGCCTGCAGCTGCCAGAGCCGCCGGAAGATGGAGTCTCGGTAAGCTCCCAGGGCCCGCAGGATCTGCTCCAGGGCTGCCCAGGCCCTGGGCTCACTCCGCTGTGCCAGCCCCTCACCAAACGCTAGCAGCGCCTCCACACGCTCAGCTGCCCCTCGTAGGTCCACCTGGAGGGCCTGGGGACATATGGACATCACCCCACGCACACACCAGGGACCCAAAACCTGGAGTTACCCCCCTCCCCCATTTCCTATCCAAAGGCCTGGAACATGCACTCAACCCATTTCCCATCCCGGAAAGCTGGCACCCACTGCTGGGGCCGTGCCCACCCCCACATCCTGGCCTCTCCTGCCTACCTGCAGCTGCACCATCCCACTCTGGGCCAATGCCCAGTGCCCCAGGCCTTGCTCCAGGTCCTGCAGCCGGCGGCCCAGCCCCAGCAGGCACAGGTGCAGGCTGTTCTGCTCAGCCTCTAGTACCTCCAGGCCAGAAATGGGGTGCTGGGGAACACAGGAGCCAGGTCAGGGCCAGTGGGCCAATCAAGATATCACCCCTGCTCCCATCCCCACCCCTCTTCTGTAAGCTTCTGGAAACTTCTCTGTGGCACAGTCCATCTCCGGGTCTGTCTGCACCAGGATGGCTCCCACTGGGGGGGCCTTCCCAGTGGAGCCAGGCCTGAGGACAGATATCTAGTTCAAGGTCTCCAGGTTTTCAAAGCTCCTGGAAACTTGGATGTGTGAGGCCTGGGGGGTCTGGACAGGGAGCGGGGCTGGGTACCCCCCAAGAAGAATGGGGCTACACCAGGAGCAATGATGAAATGCTTCTCAGCCGGGCGCAGTGGTTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCCGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAGACATCATCTCTACTTTTTTTTTTTTAATAAAAAAGAAATATGGCTGGACACGGTGACGCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAACAAGTCGAAAACCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGTGGCTGAGGCAGGAGAATCACTGGGACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATCTCACCACTGCATTCCAGCCTAGGTGACAGAGAGACTCCATCTCAAAAAAAAAAAGAAAGAAAGAAATACGTCTCCCCAGTTGGTCAGATATTGAAACACTTTTCCAGAAGGTCCCTCCCCCTACAGACACCCAACACCTTTCCAGAATCATCACCCGGTCCTCAGTATGGAGGCCAGACTCCAGGGGACAGAGAGGAGGTGGGGCTGGCACAAGGGGTCTGGGTCACCTCAGCTCACCTCACAGTGTTTGCCCCCAGCTGGGTCCTCGTAGGAAGAGGGTGTTGACCATCTCGGGGGGTGAGCGGCAGGCTCATTGCCCCTTGGCCCACCCTGGAAGTGCTCAGGAGGGCCCAAGGAGTCCTGTCCCAGGGTCTGGGCCTGCTCTGGGCTAGGAGGCAGGGGGCGGTGACTGGGTGAGTCTCGACACCTCACTTTTCAGCCTACCGTCACCCCAACCCTGGTGGCCTCTCCTATGTCCCCAGGCGATCACAGCCATGGCACCTCCTACCCTCACATGGCCCCTGCCACCACGCCTACCCTTTTGGGAACAAGCTTCCAAAGCCCCGGCCCCCACCTCGTGCTCTCTCCTCTCCGGACGCGGGGCAGACGGTGCATCCAACAATGTCCGCCTCTCTAGGTGCTCCCGGTGGGTGGTTGAGGGGCTCTGAGCCAAGTCTAGGGCCCAGAGGCAGGGACAGGGCCATGGCTGGGGGCCTGGGGACACAAAGTCAGGTGAGGGCAGCCAGTAAGACCTCTTCCCTAGACAAGGGTGTCCCAGAGCTCCTCCGCTGGAGTCACCCGGGCCTGAGGCTGCAGGAGAGGCCCAGGACAGGTCTGGCTCCGCCCCTTCCAAGAGGAACCTGGACCCGGCCATTTGATGCCCAGCTCAGGTGACAGAAGAGTCACTTAACTCCTTCCTCCCTAGCAGGCCAGTAGCTAAATCTCCCAGCATCACTCCACGCCATCCAAGAGGGTTCCAGATAGAACCCCTGCGCCACCTCCTCAAGAGCCCTGGATTCTGCCCCACTGGGAACCCAGAAATCGGACCTCCAGGGCCTACCCCATTCATTTAAGACCCTAGATGCCGCTCCCCTCAGGAAACCAAGCATCTGGCCCCTAAAAAATAAAAATATAAAACCAAGGAAAGATTTTTTTGTTTATTTGGTATGGGGTCTTCTGTAGCTCACACAAAATTATTGGGAAAATAAATAACCCAGGGGAGCCCCCTTTGCCCACGGTTCCTAGGTCGCGGAGTCACAGCAGCCCCAAAGGGGCAGGAACCTGGGAATCCGAGGGGTCCCGGCCCTGGCGGTCACTTGCCCAGCAGGAGGCCGGCGCGCAGCACGCGGGGCACGCGGCGGATGGTCAGCGAGACCCGGGTGCCGCGCACCAGGCAGGCTCCCGGCCGCGCCGACGGGCAGGCTGCCGCATTGGGCGGCGAGGAGGCGGCGTCCAGCGCGTCTACGCGGGCGGCGGCGATGCCGTGGAGAAGACGCGTGTAGGCGGGGCCGCGGAGCACCAGCAGGCTGCGCGGTTCCAGCAGTAGCGAGGTGGTGGGCCGGGGCGGAGGCCGAGGCTGCAGGGCGGGTTGAGGGTCAGCAGGGCTCAAGAAGTCGGGGGGTGGGGGTGGGCGAGAGGTCGGTAGCCTCCGGGGATCAGCTAGTCCCCAGGGGCAAAAGCTGAAGAGCAAGTGTGCTCACAATGATGGAGGCTTTGGTGGTTCAGGAGTGAAAATTGCTGGGGCCTGGGCTGGGGCTGCTGGAAAGGGAGGGCGAGGGCTCTGCCGTCCCTCGGGAGGGGGCAGGATCTAGGTGGCAGATGGGGGCGTCAAAGGGTCAGCGGCCGGTGGGAGCTGCAGCTGGGATCTCAAAGGGGCTGAGGCTGGGGCTGGGACCCAGGAATAGGCAGTCCCCAGGAAATACAGGCAGAGCTGGGCTGAGAGAGCATGGCTGAAGCCAGGACCAGGTGAGGAGAGAGTGAGGCAGAGGTTAGAGGCAGTGGGGGTTCCCAAGGACATCAGGACATTAGAGGACAACCGCACAGCTGAGGGAGTGTCAGAGCATCCAGGAGCATGCAGGGCTCGAGGGCAAGCCTCAAGGAGTGGGTCGGCGTGTTCAGGGGCGTTTCTGTGAACACTGGGGTGCTAGAAATGCATCACTCAGAGAAATTGTGTCAAGGGGTCAAGGAGAATCTGGGGGTGTCCTGCACCCCAAATCACATTCCTGGAGTAGCAGGACGTCTGGGGCACCCTGAGCAGGGGCAGATAGAGCATCTGGGAGGAGGTGAGGCCCCCCGAGTTAATGGCGGTGGGGTATCTAAGGATATCAGTGTCTGCTGGGGAGTCAGGGGTATCCATTCAGCAGGTTGGGGCATCGGGGAGCCTGTGAAAATCATGGCATGTGGGACAGACACCCTGTAAGCAGATGGGTTGGGTGTCTGGGAGGAAGTGGGTACACCCCATGAGGGGACAAGGGAAGGTATCTGGGAGAGTGCCAGGAGTACCCCGAAGGCATGTGGGACCAGGTCATCTTGGAGGATGTGCGAGGTTGAAGTGCCTACAAGCAGCTGGGGCAGTGTCTGGGGGCCCACCTGTTCTGTAGGGTCATCGTCCTCTGGCCGCCGCGGCT
pathogenic
302,821
Regarding the variant found on chromosome 19 at position 36008585 in gene SYNE4 (spectrin repeat containing nuclear envelope family member 4): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_76']
CGGATCCCACTCCAACTCTGTGGAAGTGGGGAGGCTACTGGGTGCCCAGGGCCCCCAGACCCCACCAGGTCCTGGCCAGTCCGAGTCTCCCTCGACCTCCAAGTCCTGGTCCAGCGTGTTGGCCTCCTCGAACACCTGGGTCAAAGGACAGAGGTCATGGAGGCTATGAGGTTGGGGCCTGGGTTGGGTGGGGGGTATCAAGATGGGCCCTACCAGGCTGTAGCTGACCAGCTGGGCCTGCAGCTGCCAGAGCCGCCGGAAGATGGAGTCTCGGTAAGCTCCCAGGGCCCGCAGGATCTGCTCCAGGGCTGCCCAGGCCCTGGGCTCACTCCGCTGTGCCAGCCCCTCACCAAACGCTAGCAGCGCCTCCACACGCTCAGCTGCCCCTCGTAGGTCCACCTGGAGGGCCTGGGGACATATGGACATCACCCCACGCACACACCAGGGACCCAAAACCTGGAGTTACCCCCCTCCCCCATTTCCTATCCAAAGGCCTGGAACATGCACTCAACCCATTTCCCATCCCGGAAAGCTGGCACCCACTGCTGGGGCCGTGCCCACCCCCACATCCTGGCCTCTCCTGCCTACCTGCAGCTGCACCATCCCACTCTGGGCCAATGCCCAGTGCCCCAGGCCTTGCTCCAGGTCCTGCAGCCGGCGGCCCAGCCCCAGCAGGCACAGGTGCAGGCTGTTCTGCTCAGCCTCTAGTACCTCCAGGCCAGAAATGGGGTGCTGGGGAACACAGGAGCCAGGTCAGGGCCAGTGGGCCAATCAAGATATCACCCCTGCTCCCATCCCCACCCCTCTTCTGTAAGCTTCTGGAAACTTCTCTGTGGCACAGTCCATCTCCGGGTCTGTCTGCACCAGGATGGCTCCCACTGGGGGGGCCTTCCCAGTGGAGCCAGGCCTGAGGACAGATATCTAGTTCAAGGTCTCCAGGTTTTCAAAGCTCCTGGAAACTTGGATGTGTGAGGCCTGGGGGGTCTGGACAGGGAGCGGGGCTGGGTACCCCCCAAGAAGAATGGGGCTACACCAGGAGCAATGATGAAATGCTTCTCAGCCGGGCGCAGTGGTTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCCGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAGACATCATCTCTACTTTTTTTTTTTTAATAAAAAAGAAATATGGCTGGACACGGTGACGCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAACAAGTCGAAAACCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGTGGCTGAGGCAGGAGAATCACTGGGACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATCTCACCACTGCATTCCAGCCTAGGTGACAGAGAGACTCCATCTCAAAAAAAAAAAGAAAGAAAGAAATACGTCTCCCCAGTTGGTCAGATATTGAAACACTTTTCCAGAAGGTCCCTCCCCCTACAGACACCCAACACCTTTCCAGAATCATCACCCGGTCCTCAGTATGGAGGCCAGACTCCAGGGGACAGAGAGGAGGTGGGGCTGGCACAAGGGGTCTGGGTCACCTCAGCTCACCTCACAGTGTTTGCCCCCAGCTGGGTCCTCGTAGGAAGAGGGTGTTGACCATCTCGGGGGGTGAGCGGCAGGCTCATTGCCCCTTGGCCCACCCTGGAAGTGCTCAGGAGGGCCCAAGGAGTCCTGTCCCAGGGTCTGGGCCTGCTCTGGGCTAGGAGGCAGGGGGCGGTGACTGGGTGAGTCTCGACACCTCACTTTTCAGCCTACCGTCACCCCAACCCTGGTGGCCTCTCCTATGTCCCCAGGCGATCACAGCCATGGCACCTCCTACCCTCACATGGCCCCTGCCACCACGCCTACCCTTTTGGGAACAAGCTTCCAAAGCCCCGGCCCCCACCTCGTGCTCTCCTCTCCGGACGCGGGGCAGACGGTGCATCCAACAATGTCCGCCTCTCTAGGTGCTCCCGGTGGGTGGTTGAGGGGCTCTGAGCCAAGTCTAGGGCCCAGAGGCAGGGACAGGGCCATGGCTGGGGGCCTGGGGACACAAAGTCAGGTGAGGGCAGCCAGTAAGACCTCTTCCCTAGACAAGGGTGTCCCAGAGCTCCTCCGCTGGAGTCACCCGGGCCTGAGGCTGCAGGAGAGGCCCAGGACAGGTCTGGCTCCGCCCCTTCCAAGAGGAACCTGGACCCGGCCATTTGATGCCCAGCTCAGGTGACAGAAGAGTCACTTAACTCCTTCCTCCCTAGCAGGCCAGTAGCTAAATCTCCCAGCATCACTCCACGCCATCCAAGAGGGTTCCAGATAGAACCCCTGCGCCACCTCCTCAAGAGCCCTGGATTCTGCCCCACTGGGAACCCAGAAATCGGACCTCCAGGGCCTACCCCATTCATTTAAGACCCTAGATGCCGCTCCCCTCAGGAAACCAAGCATCTGGCCCCTAAAAAATAAAAATATAAAACCAAGGAAAGATTTTTTTGTTTATTTGGTATGGGGTCTTCTGTAGCTCACACAAAATTATTGGGAAAATAAATAACCCAGGGGAGCCCCCTTTGCCCACGGTTCCTAGGTCGCGGAGTCACAGCAGCCCCAAAGGGGCAGGAACCTGGGAATCCGAGGGGTCCCGGCCCTGGCGGTCACTTGCCCAGCAGGAGGCCGGCGCGCAGCACGCGGGGCACGCGGCGGATGGTCAGCGAGACCCGGGTGCCGCGCACCAGGCAGGCTCCCGGCCGCGCCGACGGGCAGGCTGCCGCATTGGGCGGCGAGGAGGCGGCGTCCAGCGCGTCTACGCGGGCGGCGGCGATGCCGTGGAGAAGACGCGTGTAGGCGGGGCCGCGGAGCACCAGCAGGCTGCGCGGTTCCAGCAGTAGCGAGGTGGTGGGCCGGGGCGGAGGCCGAGGCTGCAGGGCGGGTTGAGGGTCAGCAGGGCTCAAGAAGTCGGGGGGTGGGGGTGGGCGAGAGGTCGGTAGCCTCCGGGGATCAGCTAGTCCCCAGGGGCAAAAGCTGAAGAGCAAGTGTGCTCACAATGATGGAGGCTTTGGTGGTTCAGGAGTGAAAATTGCTGGGGCCTGGGCTGGGGCTGCTGGAAAGGGAGGGCGAGGGCTCTGCCGTCCCTCGGGAGGGGGCAGGATCTAGGTGGCAGATGGGGGCGTCAAAGGGTCAGCGGCCGGTGGGAGCTGCAGCTGGGATCTCAAAGGGGCTGAGGCTGGGGCTGGGACCCAGGAATAGGCAGTCCCCAGGAAATACAGGCAGAGCTGGGCTGAGAGAGCATGGCTGAAGCCAGGACCAGGTGAGGAGAGAGTGAGGCAGAGGTTAGAGGCAGTGGGGGTTCCCAAGGACATCAGGACATTAGAGGACAACCGCACAGCTGAGGGAGTGTCAGAGCATCCAGGAGCATGCAGGGCTCGAGGGCAAGCCTCAAGGAGTGGGTCGGCGTGTTCAGGGGCGTTTCTGTGAACACTGGGGTGCTAGAAATGCATCACTCAGAGAAATTGTGTCAAGGGGTCAAGGAGAATCTGGGGGTGTCCTGCACCCCAAATCACATTCCTGGAGTAGCAGGACGTCTGGGGCACCCTGAGCAGGGGCAGATAGAGCATCTGGGAGGAGGTGAGGCCCCCCGAGTTAATGGCGGTGGGGTATCTAAGGATATCAGTGTCTGCTGGGGAGTCAGGGGTATCCATTCAGCAGGTTGGGGCATCGGGGAGCCTGTGAAAATCATGGCATGTGGGACAGACACCCTGTAAGCAGATGGGTTGGGTGTCTGGGAGGAAGTGGGTACACCCCATGAGGGGACAAGGGAAGGTATCTGGGAGAGTGCCAGGAGTACCCCGAAGGCATGTGGGACCAGGTCATCTTGGAGGATGTGCGAGGTTGAAGTGCCTACAAGCAGCTGGGGCAGTGTCTGGGGGCCCACCTGTTCTGTAGGGTCATCGTCCTCTGGCCGCCGCGGCTCGTAGAAGTCCAGCACGGTGTGGGAGCC
CGGATCCCACTCCAACTCTGTGGAAGTGGGGAGGCTACTGGGTGCCCAGGGCCCCCAGACCCCACCAGGTCCTGGCCAGTCCGAGTCTCCCTCGACCTCCAAGTCCTGGTCCAGCGTGTTGGCCTCCTCGAACACCTGGGTCAAAGGACAGAGGTCATGGAGGCTATGAGGTTGGGGCCTGGGTTGGGTGGGGGGTATCAAGATGGGCCCTACCAGGCTGTAGCTGACCAGCTGGGCCTGCAGCTGCCAGAGCCGCCGGAAGATGGAGTCTCGGTAAGCTCCCAGGGCCCGCAGGATCTGCTCCAGGGCTGCCCAGGCCCTGGGCTCACTCCGCTGTGCCAGCCCCTCACCAAACGCTAGCAGCGCCTCCACACGCTCAGCTGCCCCTCGTAGGTCCACCTGGAGGGCCTGGGGACATATGGACATCACCCCACGCACACACCAGGGACCCAAAACCTGGAGTTACCCCCCTCCCCCATTTCCTATCCAAAGGCCTGGAACATGCACTCAACCCATTTCCCATCCCGGAAAGCTGGCACCCACTGCTGGGGCCGTGCCCACCCCCACATCCTGGCCTCTCCTGCCTACCTGCAGCTGCACCATCCCACTCTGGGCCAATGCCCAGTGCCCCAGGCCTTGCTCCAGGTCCTGCAGCCGGCGGCCCAGCCCCAGCAGGCACAGGTGCAGGCTGTTCTGCTCAGCCTCTAGTACCTCCAGGCCAGAAATGGGGTGCTGGGGAACACAGGAGCCAGGTCAGGGCCAGTGGGCCAATCAAGATATCACCCCTGCTCCCATCCCCACCCCTCTTCTGTAAGCTTCTGGAAACTTCTCTGTGGCACAGTCCATCTCCGGGTCTGTCTGCACCAGGATGGCTCCCACTGGGGGGGCCTTCCCAGTGGAGCCAGGCCTGAGGACAGATATCTAGTTCAAGGTCTCCAGGTTTTCAAAGCTCCTGGAAACTTGGATGTGTGAGGCCTGGGGGGTCTGGACAGGGAGCGGGGCTGGGTACCCCCCAAGAAGAATGGGGCTACACCAGGAGCAATGATGAAATGCTTCTCAGCCGGGCGCAGTGGTTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCCGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAGACATCATCTCTACTTTTTTTTTTTTAATAAAAAAGAAATATGGCTGGACACGGTGACGCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAACAAGTCGAAAACCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGTGGCTGAGGCAGGAGAATCACTGGGACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATCTCACCACTGCATTCCAGCCTAGGTGACAGAGAGACTCCATCTCAAAAAAAAAAAGAAAGAAAGAAATACGTCTCCCCAGTTGGTCAGATATTGAAACACTTTTCCAGAAGGTCCCTCCCCCTACAGACACCCAACACCTTTCCAGAATCATCACCCGGTCCTCAGTATGGAGGCCAGACTCCAGGGGACAGAGAGGAGGTGGGGCTGGCACAAGGGGTCTGGGTCACCTCAGCTCACCTCACAGTGTTTGCCCCCAGCTGGGTCCTCGTAGGAAGAGGGTGTTGACCATCTCGGGGGGTGAGCGGCAGGCTCATTGCCCCTTGGCCCACCCTGGAAGTGCTCAGGAGGGCCCAAGGAGTCCTGTCCCAGGGTCTGGGCCTGCTCTGGGCTAGGAGGCAGGGGGCGGTGACTGGGTGAGTCTCGACACCTCACTTTTCAGCCTACCGTCACCCCAACCCTGGTGGCCTCTCCTATGTCCCCAGGCGATCACAGCCATGGCACCTCCTACCCTCACATGGCCCCTGCCACCACGCCTACCCTTTTGGGAACAAGCTTCCAAAGCCCCGGCCCCCACCTCGTGCTCTCCTCTCCGGACGCGGGGCAGACGGGTGCATCCAACAATGTCCGCCTCTCTAGGTGCTCCCGGTGGGTGGTTGAGGGGCTCTGAGCCAAGTCTAGGGCCCAGAGGCAGGGACAGGGCCATGGCTGGGGGCCTGGGGACACAAAGTCAGGTGAGGGCAGCCAGTAAGACCTCTTCCCTAGACAAGGGTGTCCCAGAGCTCCTCCGCTGGAGTCACCCGGGCCTGAGGCTGCAGGAGAGGCCCAGGACAGGTCTGGCTCCGCCCCTTCCAAGAGGAACCTGGACCCGGCCATTTGATGCCCAGCTCAGGTGACAGAAGAGTCACTTAACTCCTTCCTCCCTAGCAGGCCAGTAGCTAAATCTCCCAGCATCACTCCACGCCATCCAAGAGGGTTCCAGATAGAACCCCTGCGCCACCTCCTCAAGAGCCCTGGATTCTGCCCCACTGGGAACCCAGAAATCGGACCTCCAGGGCCTACCCCATTCATTTAAGACCCTAGATGCCGCTCCCCTCAGGAAACCAAGCATCTGGCCCCTAAAAAATAAAAATATAAAACCAAGGAAAGATTTTTTTGTTTATTTGGTATGGGGTCTTCTGTAGCTCACACAAAATTATTGGGAAAATAAATAACCCAGGGGAGCCCCCTTTGCCCACGGTTCCTAGGTCGCGGAGTCACAGCAGCCCCAAAGGGGCAGGAACCTGGGAATCCGAGGGGTCCCGGCCCTGGCGGTCACTTGCCCAGCAGGAGGCCGGCGCGCAGCACGCGGGGCACGCGGCGGATGGTCAGCGAGACCCGGGTGCCGCGCACCAGGCAGGCTCCCGGCCGCGCCGACGGGCAGGCTGCCGCATTGGGCGGCGAGGAGGCGGCGTCCAGCGCGTCTACGCGGGCGGCGGCGATGCCGTGGAGAAGACGCGTGTAGGCGGGGCCGCGGAGCACCAGCAGGCTGCGCGGTTCCAGCAGTAGCGAGGTGGTGGGCCGGGGCGGAGGCCGAGGCTGCAGGGCGGGTTGAGGGTCAGCAGGGCTCAAGAAGTCGGGGGGTGGGGGTGGGCGAGAGGTCGGTAGCCTCCGGGGATCAGCTAGTCCCCAGGGGCAAAAGCTGAAGAGCAAGTGTGCTCACAATGATGGAGGCTTTGGTGGTTCAGGAGTGAAAATTGCTGGGGCCTGGGCTGGGGCTGCTGGAAAGGGAGGGCGAGGGCTCTGCCGTCCCTCGGGAGGGGGCAGGATCTAGGTGGCAGATGGGGGCGTCAAAGGGTCAGCGGCCGGTGGGAGCTGCAGCTGGGATCTCAAAGGGGCTGAGGCTGGGGCTGGGACCCAGGAATAGGCAGTCCCCAGGAAATACAGGCAGAGCTGGGCTGAGAGAGCATGGCTGAAGCCAGGACCAGGTGAGGAGAGAGTGAGGCAGAGGTTAGAGGCAGTGGGGGTTCCCAAGGACATCAGGACATTAGAGGACAACCGCACAGCTGAGGGAGTGTCAGAGCATCCAGGAGCATGCAGGGCTCGAGGGCAAGCCTCAAGGAGTGGGTCGGCGTGTTCAGGGGCGTTTCTGTGAACACTGGGGTGCTAGAAATGCATCACTCAGAGAAATTGTGTCAAGGGGTCAAGGAGAATCTGGGGGTGTCCTGCACCCCAAATCACATTCCTGGAGTAGCAGGACGTCTGGGGCACCCTGAGCAGGGGCAGATAGAGCATCTGGGAGGAGGTGAGGCCCCCCGAGTTAATGGCGGTGGGGTATCTAAGGATATCAGTGTCTGCTGGGGAGTCAGGGGTATCCATTCAGCAGGTTGGGGCATCGGGGAGCCTGTGAAAATCATGGCATGTGGGACAGACACCCTGTAAGCAGATGGGTTGGGTGTCTGGGAGGAAGTGGGTACACCCCATGAGGGGACAAGGGAAGGTATCTGGGAGAGTGCCAGGAGTACCCCGAAGGCATGTGGGACCAGGTCATCTTGGAGGATGTGCGAGGTTGAAGTGCCTACAAGCAGCTGGGGCAGTGTCTGGGGGCCCACCTGTTCTGTAGGGTCATCGTCCTCTGGCCGCCGCGGCTCGTAGAAGTCCAGCACGGTGTGGGAGC
pathogenic
302,822
Clinical classification of chromosome 19, position 36091247, gene WDR62 (WD repeat domain 62): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Microcephaly_2,_primary,_autosomal_recessive,_with_or_without_cortical_malformations']
ACACTTTGTCCGTACCCACCACGTAGCAGAGAAAACCACCTTGTATGACATGGACATTGACATCACCCAGAAGTACGTGGCCGTGGCCTGCCAGGACCGCAATGTGAGGTAAGGGGTGGCCCTGGACCCTTAGCTGGCCTGGTCTGCCTTGTCCTAGGCTGTCTGCTTTCCTCCCTCTGTTCCTCTGGTCCCCAAGAAGCTGGGAAGGAATTGAGGGACCCAGCAGGTGTTCCTTCTTGGTTTTTTTTTGTTTTTGTTTTTGAGGCAGAGTCTTGCTCTGTTGCCCATGCTAGAGTGCAGTGGCACCATTTTAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCCTGCCACCATGCCTAGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATATTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCACCAGCAGGTATTTCTTAGAAGCTGGGCTCTCCCAAGCCTGGCCTCCAGGTCAGCAGAGGGCTTTCTTCTGGCTCTCCCTAGAGCCGGTGTGGGATGACTAAGGTGCTGATGTGGCACATAAACTCCCTCATTCACCCGTATTCCCTGAGCACCTAACTGGGCTGGATGGTGCTGGGATCATGGCAGTGGCCAGGATAGCCCCAGGCCCTCCTTCATGGAGCTCACAGTCCAGTAGAATGGACACGGCCACCTCACAGCCACAGACAGTGACAGAGTGGTCAGAGATGGGGGAGCCCAGGGGCCCTGTGGAGACACCTGACCCCACCTGCGGATCAAGCAGGACTTCCTGGAGGAAGAGACACCTTAGCCTGGGGAGGATGTGGAGGAGCGAGCCAGGGGGAGGCAGAGAGTGAGTGTGCAGAGGGCAAAGCAGTGCAAAGAGGCTCTGCACCCCTTCCCAGTTCTTTCTCATGCGGTGCCAAGCACTGAGCTTGCAGTGTGTGGGGGAGATGAACATTAACTCAGTGGATACCCCAGGACAACCTCAGCTTGAGATGGGGTTTCAGTTTCAGTCTAGGCATCAGATGGGGACAAGAGGTAGCAGGGGGCTTCCAGGGGAGGGGAGGACAGCAAGAGCCAGAGAATGAGGTGGTGGGGTAGGCGGGGCCCTGTTGGCCGCAACATGCCCCTACTTCCCCAGAGTCTACAACACTGTGAACGGGAAGCAGAAGAAGTGCTACAAGGGCTCCCAGGGTGACGAAGGGTCCTTGCTGAAGGTGAGGAGTTGGAGACCCCTGTCTGTCTGCTGCCCTGATGGGCCACCTATTGTGACGGCCCACACCTGAGACCTGTGCCCTTGGTCCTTCCTCAGTGCACCGCGCTGCCCAGCACCTTCTCAGGCCTGGTTAAACAAGGATGCTTGCGAGAGGGTGGGGAGGGTGACCCCAGCTGTGTTTCCTTTATTTACAGAGCCCTTCCCCAAGTGGGGCGTCTAAGTGGGTTCCATTTTGAGTGGCAGCAGGGTATGGTGGGAAGAATCAGAGGCATGAACTCCCCTCCTGGTTTGCCCACACCAGCCACGGGTCACTCAGGACAAGGGGGGACCTTCTCAGAGCCTCTGGTCTAGGACAGTTATGGGTTCAGGTTCTGCCTCAGGCTGACTGTGTGACCTTGGGCAAGCATCATCTCTTGAAATGCACACAGACAGCTTGTCTCATAGACTTGTTCTCTGGAGGAGTTCAGTTTGCACATGTTCAGTGCTTAGCACAGGGCCTGGCTACTGTTGTTACTGCTGCGGTGGTTGTTAATTTCTTCACGTGTCGAATGGGAGCGGGAGCTCCTGCCCTGCCAGAGTCCCATGTGCTGTGCATGCAGCACGGGGGAGGGAGGGGCCCAGGCCTCATCATAAGGAAGAAGCAGGCAGCTGGAGTGACATGTGGGTCCCTTTCCTGGCAGGTCCATGTGGACCCCTCAGGCACCTTCCTGGCCACCAGCTGCTCTGACAAAAGCATCTCAGTGATTGACTTTTACTCGGGCGAGTGCATTGCCAAGATGTTTGGCCATTCAGGTGGGTGTGCCTCTCTGCTTGGGATGCCTCCCCACCCGCCCACACCCTCTGACTCCGAAGGCAAGTGCAGCCTCTCTGCTTTGTTTGCAGAAATTATTACCAGCATGAAGTTCACCTATGACTGTCATCACTTGATCACAGTATCTGGAGACAGGTGGGACATGGACCTTTGGGAGAGTTGTGGCTCAGATACCATGAGCACTGCACTCAGCCTGCCTGTGTAGAGAGCATTTCTAAACTGCCCAGTTTGGATTGTGGGAGTCTTGGTGTCACACCCAGCCCTGAGTTCAAATACCAGCTCTAAGCTGGGCATGATGGCTCACGCCTGTAACCCCAGCACTTTGGGACGCTGAGGCGGGTGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAAACCCTATCTCTACAAAAAATTAGCCGGGTGTGGTCATGTACACCTCTAGTCCCAGCTACTCAGGAGGGGGAAGATGGCTTGAACCTGGTAGGTAGAGGTTGCAGGGAGCACAGATCATGCCAGTGCATTCCAGCCTTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAACAAAACACTAAAAAAACATATCCCAGCTCTGCCATTTATTTTCTTGTCACCTTGAGCAGGTTATTTCCCCTGAGCCTCAGTTTGCTCCCCTGTAAAAGACACCACCGTTTACATTTACCTTAAAAATGGTGTGATGAGGCCGGGCGCAGTGGCTCACGCCTGTGATCCCAGCACTTTGGGAGGCCTAGGTGGATGGATCATCTGAGGTCAGGAGTTCAAGACCAGCCTGGTCAACATGGAGAAACTGTGTCTCTACTAAAAATACAAAAATTAGCTGTGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCATGAGAATGACCTGAACCTGGGAGGTAGAAGTTGCAGTGAGCTGAGATCGCGTCACTGCACCCTAGCCTGGGTGACAGAGCAAGACTCTCTCAAAAAAAAAAAAAAAAGAAAATTGTATGGTGAGAAATGAATGAGATGATATACATACATTCTTTAGCACATGGGTGGTACTCAAGGAAGTCCCTTTTGTCACTCCCTTTGATTTACCCCAGTTCTTCCCCACAGCCCCCTTCCTCAGGTCTTGAGGCCTCCAGAACAGGCCCTGGTTTGCTGGGATGCCCCAGACCTGGGCCCAGGGTGTGGATGTGGCAAGTCCAGCACCCCTGCACTAAGCGGATAGGGGTGTGTTTTCCAGGAGCATCTGGAGAATGGGGTCCAGGCTGTGGTGTGGGTGGCTTCAGGGTCAGCCACGGCAGCGGCTCCCATGCTTACTCTTCCTCTGCCTTGTGTGTCTCTCTTTGACCTCCGCAGCTGCGTGTTCATCTGGCACCTGGGCCCGGAGATCACCAACTGCATGAAGCAGCACTTGCTGGAGATTGACCACCGGCAGCAGCAGCAGCACACAAATGACAAGAAGCGGAGTGGCCACCCCAGGTCCTGGCAGCCCCTGCCTGTCCACCAGAGGGATGAGTCCCTGCCAGGGCCCCATGGAGTGATGCTGGGGACACAGTGGTGGCCAAGACAGCCCTAGGCCCTGCCCTTAGCACACTCACAGCTGAGTAGGGGAGACAGACTTTGAATATGCAGTTACAGTAATAGATACAAAAAGGTTTTGTGGATTTTTTTAATTTTCGTAAATAATAGAGACAGAGTCTTGCTGTGTTGCCCAGGCTTGTCTTGAACTCCTGGGCCCAAGTGATCCTCCCACCTTGGCCTCACAAAGTGCTGGGATCACAGGTGTGAGCCACTGCACCCGGCTATGAGAAGGGTATTAAAGTGGAAAAGCAAAGTGTTTGGCGAGCCTCTCAGCACTGTGATGGGGGATGCCCCAAGCGGCTGTGGGAACAGAGCAGTCCCTGACCGGCCAGCCAAGGGGAGGGGTGGGTAGACAGGGGATCTGAGGGGAGGGCTGCAGTG
ACACTTTGTCCGTACCCACCACGTAGCAGAGAAAACCACCTTGTATGACATGGACATTGACATCACCCAGAAGTACGTGGCCGTGGCCTGCCAGGACCGCAATGTGAGGTAAGGGGTGGCCCTGGACCCTTAGCTGGCCTGGTCTGCCTTGTCCTAGGCTGTCTGCTTTCCTCCCTCTGTTCCTCTGGTCCCCAAGAAGCTGGGAAGGAATTGAGGGACCCAGCAGGTGTTCCTTCTTGGTTTTTTTTTGTTTTTGTTTTTGAGGCAGAGTCTTGCTCTGTTGCCCATGCTAGAGTGCAGTGGCACCATTTTAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCCTGCCACCATGCCTAGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATATTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCACCAGCAGGTATTTCTTAGAAGCTGGGCTCTCCCAAGCCTGGCCTCCAGGTCAGCAGAGGGCTTTCTTCTGGCTCTCCCTAGAGCCGGTGTGGGATGACTAAGGTGCTGATGTGGCACATAAACTCCCTCATTCACCCGTATTCCCTGAGCACCTAACTGGGCTGGATGGTGCTGGGATCATGGCAGTGGCCAGGATAGCCCCAGGCCCTCCTTCATGGAGCTCACAGTCCAGTAGAATGGACACGGCCACCTCACAGCCACAGACAGTGACAGAGTGGTCAGAGATGGGGGAGCCCAGGGGCCCTGTGGAGACACCTGACCCCACCTGCGGATCAAGCAGGACTTCCTGGAGGAAGAGACACCTTAGCCTGGGGAGGATGTGGAGGAGCGAGCCAGGGGGAGGCAGAGAGTGAGTGTGCAGAGGGCAAAGCAGTGCAAAGAGGCTCTGCACCCCTTCCCAGTTCTTTCTCATGCGGTGCCAAGCACTGAGCTTGCAGTGTGTGGGGGAGATGAACATTAACTCAGTGGATACCCCAGGACAACCTCAGCTTGAGATGGGGTTTCAGTTTCAGTCTAGGCATCAGATGGGGACAAGAGGTAGCAGGGGGCTTCCAGGGGAGGGGAGGACAGCAAGAGCCAGAGAATGAGGTGGTGGGGTAGGCGGGGCCCTGTTGGCCGCAACATGCCCCTACTTCCCCAGAGTCTACAACACTGTGAACGGGAAGCAGAAGAAGTGCTACAAGGGCTCCCAGGGTGACGAAGGGTCCTTGCTGAAGGTGAGGAGTTGGAGACCCCTGTCTGTCTGCTGCCCTGATGGGCCACCTATTGTGACGGCCCACACCTGAGACCTGTGCCCTTGGTCCTTCCTCAGTGCACCGCGCTGCCCAGCACCTTCTCAGGCCTGGTTAAACAAGGATGCTTGCGAGAGGGTGGGGAGGGTGACCCCAGCTGTGTTTCCTTTATTTACAGAGCCCTTCCCCAAGTGGGGCGTCTAAGTGGGTTCCATTTTGAGTGGCAGCAGGGTATGGTGGGAAGAATCAGAGGCATGAACTCCCCTCCTGGTTTGCCCACACCAGCCACGGGTCACTCAGGACAAGGGGGGACCTTCTCAGAGCCTCTGGTCTAGGACAGTTATGGGTTCAGGTTCTGCCTCAGGCTGACTGTGTGACCTTGGGCAAGCATCATCTCTTGAAATGCACACAGACAGCTTGTCTCATAGACTTGTTCTCTGGAGGAGTTCAGTTTGCACATGTTCAGTGCTTAGCACAGGGCCTGGCTACTGTTGTTACTGCTGCGGTGGTTGTTAATTTCTTCACGTGTCGAATGGGAGCGGGAGCTCCTGCCCTGCCAGAGTCCCATGTGCTGTGCATGCAGCACGGGGGAGGGAGGGGCCCAGGCCTCATCATAAGGAAGAAGCAGGCAGCTGGAGTGACATGTGGGTCCCTTTCCTGGCAGGTCCATGTGGACCCCTCAGGCACCTTCCTGGCCACCAGCTGCTCTGACAAAGCATCTCAGTGATTGACTTTTACTCGGGCGAGTGCATTGCCAAGATGTTTGGCCATTCAGGTGGGTGTGCCTCTCTGCTTGGGATGCCTCCCCACCCGCCCACACCCTCTGACTCCGAAGGCAAGTGCAGCCTCTCTGCTTTGTTTGCAGAAATTATTACCAGCATGAAGTTCACCTATGACTGTCATCACTTGATCACAGTATCTGGAGACAGGTGGGACATGGACCTTTGGGAGAGTTGTGGCTCAGATACCATGAGCACTGCACTCAGCCTGCCTGTGTAGAGAGCATTTCTAAACTGCCCAGTTTGGATTGTGGGAGTCTTGGTGTCACACCCAGCCCTGAGTTCAAATACCAGCTCTAAGCTGGGCATGATGGCTCACGCCTGTAACCCCAGCACTTTGGGACGCTGAGGCGGGTGGATCACTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAAACCCTATCTCTACAAAAAATTAGCCGGGTGTGGTCATGTACACCTCTAGTCCCAGCTACTCAGGAGGGGGAAGATGGCTTGAACCTGGTAGGTAGAGGTTGCAGGGAGCACAGATCATGCCAGTGCATTCCAGCCTTGGTGACAGAGCAAGACCCCGTCTCAAAAAAAAAACAAAACACTAAAAAAACATATCCCAGCTCTGCCATTTATTTTCTTGTCACCTTGAGCAGGTTATTTCCCCTGAGCCTCAGTTTGCTCCCCTGTAAAAGACACCACCGTTTACATTTACCTTAAAAATGGTGTGATGAGGCCGGGCGCAGTGGCTCACGCCTGTGATCCCAGCACTTTGGGAGGCCTAGGTGGATGGATCATCTGAGGTCAGGAGTTCAAGACCAGCCTGGTCAACATGGAGAAACTGTGTCTCTACTAAAAATACAAAAATTAGCTGTGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCATGAGAATGACCTGAACCTGGGAGGTAGAAGTTGCAGTGAGCTGAGATCGCGTCACTGCACCCTAGCCTGGGTGACAGAGCAAGACTCTCTCAAAAAAAAAAAAAAAAGAAAATTGTATGGTGAGAAATGAATGAGATGATATACATACATTCTTTAGCACATGGGTGGTACTCAAGGAAGTCCCTTTTGTCACTCCCTTTGATTTACCCCAGTTCTTCCCCACAGCCCCCTTCCTCAGGTCTTGAGGCCTCCAGAACAGGCCCTGGTTTGCTGGGATGCCCCAGACCTGGGCCCAGGGTGTGGATGTGGCAAGTCCAGCACCCCTGCACTAAGCGGATAGGGGTGTGTTTTCCAGGAGCATCTGGAGAATGGGGTCCAGGCTGTGGTGTGGGTGGCTTCAGGGTCAGCCACGGCAGCGGCTCCCATGCTTACTCTTCCTCTGCCTTGTGTGTCTCTCTTTGACCTCCGCAGCTGCGTGTTCATCTGGCACCTGGGCCCGGAGATCACCAACTGCATGAAGCAGCACTTGCTGGAGATTGACCACCGGCAGCAGCAGCAGCACACAAATGACAAGAAGCGGAGTGGCCACCCCAGGTCCTGGCAGCCCCTGCCTGTCCACCAGAGGGATGAGTCCCTGCCAGGGCCCCATGGAGTGATGCTGGGGACACAGTGGTGGCCAAGACAGCCCTAGGCCCTGCCCTTAGCACACTCACAGCTGAGTAGGGGAGACAGACTTTGAATATGCAGTTACAGTAATAGATACAAAAAGGTTTTGTGGATTTTTTTAATTTTCGTAAATAATAGAGACAGAGTCTTGCTGTGTTGCCCAGGCTTGTCTTGAACTCCTGGGCCCAAGTGATCCTCCCACCTTGGCCTCACAAAGTGCTGGGATCACAGGTGTGAGCCACTGCACCCGGCTATGAGAAGGGTATTAAAGTGGAAAAGCAAAGTGTTTGGCGAGCCTCTCAGCACTGTGATGGGGGATGCCCCAAGCGGCTGTGGGAACAGAGCAGTCCCTGACCGGCCAGCCAAGGGGAGGGGTGGGTAGACAGGGGATCTGAGGGGAGGGCTGCAGTGN
pathogenic
302,887
The mutation in gene WDR62 (WD repeat domain 62) at chromosome 19, position 36094090—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic
GGCTCACGCCTGTGATCCCAGCACTTTGGGAGGCCTAGGTGGATGGATCATCTGAGGTCAGGAGTTCAAGACCAGCCTGGTCAACATGGAGAAACTGTGTCTCTACTAAAAATACAAAAATTAGCTGTGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCATGAGAATGACCTGAACCTGGGAGGTAGAAGTTGCAGTGAGCTGAGATCGCGTCACTGCACCCTAGCCTGGGTGACAGAGCAAGACTCTCTCAAAAAAAAAAAAAAAAGAAAATTGTATGGTGAGAAATGAATGAGATGATATACATACATTCTTTAGCACATGGGTGGTACTCAAGGAAGTCCCTTTTGTCACTCCCTTTGATTTACCCCAGTTCTTCCCCACAGCCCCCTTCCTCAGGTCTTGAGGCCTCCAGAACAGGCCCTGGTTTGCTGGGATGCCCCAGACCTGGGCCCAGGGTGTGGATGTGGCAAGTCCAGCACCCCTGCACTAAGCGGATAGGGGTGTGTTTTCCAGGAGCATCTGGAGAATGGGGTCCAGGCTGTGGTGTGGGTGGCTTCAGGGTCAGCCACGGCAGCGGCTCCCATGCTTACTCTTCCTCTGCCTTGTGTGTCTCTCTTTGACCTCCGCAGCTGCGTGTTCATCTGGCACCTGGGCCCGGAGATCACCAACTGCATGAAGCAGCACTTGCTGGAGATTGACCACCGGCAGCAGCAGCAGCACACAAATGACAAGAAGCGGAGTGGCCACCCCAGGTCCTGGCAGCCCCTGCCTGTCCACCAGAGGGATGAGTCCCTGCCAGGGCCCCATGGAGTGATGCTGGGGACACAGTGGTGGCCAAGACAGCCCTAGGCCCTGCCCTTAGCACACTCACAGCTGAGTAGGGGAGACAGACTTTGAATATGCAGTTACAGTAATAGATACAAAAAGGTTTTGTGGATTTTTTTAATTTTCGTAAATAATAGAGACAGAGTCTTGCTGTGTTGCCCAGGCTTGTCTTGAACTCCTGGGCCCAAGTGATCCTCCCACCTTGGCCTCACAAAGTGCTGGGATCACAGGTGTGAGCCACTGCACCCGGCTATGAGAAGGGTATTAAAGTGGAAAAGCAAAGTGTTTGGCGAGCCTCTCAGCACTGTGATGGGGGATGCCCCAAGCGGCTGTGGGAACAGAGCAGTCCCTGACCGGCCAGCCAAGGGGAGGGGTGGGTAGACAGGGGATCTGAGGGGAGGGCTGCAGTGGGGCCACGTGTCCTCTTACTCCCACGTGAAAGCTGTAGCTTCACTTACTTCTTTGAATCTTCTAAATATATTTCTTTCAAGTCTTTATGTAGCAAAGCCAATTTTATTTGCAGAGAACTCATGTTCTGGTTTTTGATTTGAGGTTTTGGTTTGGGTATTGCTCATTTTGAGTGGGAGGTTTTTTGGTTTTCTTCTCTTCTGCTGCTGGGTGTGTCTGTTTTTGCCATTGGCTCCATGTGGCTCCCAGGGCAATGTGGAGACCAGGCCTTGACATGGGCCACTGGTCCTGAGGTCCTGAGGTGGTGTTAGAGATATCTTGCTTTTGAGGCTCCCACTCCACCCCCAAGCTATGAACCAGGGCCCTGGCTTCAGTGCCTGCCTCATGCCAAGGGTGTTTTAGTTTCCCGTACTCGGGAAGAGCCACCATCATTGCTACCACCTACAGGAAGCCCAGCACAGGACTGCAGCCCCGCTGTCTGCTTGGCTTTCTGTCCCATTGCTGTGGCCCTGAGAGTTTGCATTCGTTTGTAGCCTGGCCTTTGTTAATCTCATCTATTGTGGTGATGTGTTTCTAGTGGGGAGACGGCATCAAGTGAGAGACTTGCCAGCACCATCTTGACCAGCAGCCAAGAATATGTTCACATGGAGCTTAGCACAGGGCCCAGCCCTAGGCAAGTCCCCACCACCAGCCCATTTGCCTGTATTCTCTCCTTACCATCCTCATTCCTGGCTTTAGGCAGGATACGTATGTGTCCACACCTAGTGAGATTCACTCCCTGAGCCCTGGAGAGCAAACAGAGGATGATCTGGAGGAAGAGTGTGAGCCAGAAGAGATGCTGAAGACACCATCCAAAGATAGCTTGGATCCAGGTTGGAAAAGGGGCCCTATTTTGAACTATGTCAGTGTAGGGAATCATTGCTGGGTTTTGCCCATGACCTTGTTTACAGGGCCTGGCACATATTAAAACTCAGGAGTCGACAGGGTGCGGTGGCTGATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGACCAATATGGTGAAACCCCGTCTCAACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGTGCAACTATAGTCCTAGCTACTAGGGAGGCTGAGACAGGAAAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAATAATAATAATAATAATAATATAAATAAAATAAATAAAATTCAGTAATCAGGCTTAGCGTGGTGGCTCACACCTGGAATTTTAGCACTTTGGGAGGCTGAAATGGGAGGGTCACTTGAGGCCAGGAGGTCGAGACCAGCCTGGGCAACATAGCGAGAGCCCATCTATGCAAAAAAAAAATTTTTTAAAGAAATTAGCCAGGCATAGTGGCACACATCTGTAGTCCCAACTACATGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCACGTACCAAGACCCCGTTCCTACAAAAAGAAAAAAATTAGCCAGGCCTGGTGGTGCACACCTATAGTCCCAGCTACCTGAAAGGCTGAGGCAGGAAGATCGCTTGAGCCCAGGAATTCCATGTTATAATGAGCTATGATTGCACCACTGCACTCCAGCCTGAATAATAGAGTGAGATCCTGTCTGTAGAAAAAGAAAGAAACTCAATAATCATATCAGTCAAGACTCTTTCAGTATAAAAGCAACCAGGCTTAAGTCAGGAAGAGGATTTTTTGGTGCCTGAAAATTGGAGAGGATTAGCTTTCAGCATGGCTAGATCCAGATAGACAGATGATGTTAAAAGGAAGATTTTTTTTTGTATCTTTTGGCTCTGCTTTTCTTCATGTTGGCTTTGCTGATGGACAGACTGTCCCTTTACTAGGGGAAAAGATACCCCCAGCAACTACAGGCTTATAAAACTCCATAGAGAATAGAACACCTCTTTCCTATAGTAGCTCAAGCAGAGTCTTAGGGTTGTGTGGCTCATGTTTCTGGTATCTGCTGTACCCACTTCTGAGCCAGTTGTTGTAGCTGTCCACATCTCAGCATGTGATCACTTCTGAGGGCAGAGACTGTAGTCAGCTCCATCCACTCACACCACCTGACCAGGCATCAAAGATGTGTTTGAGGCCGGGTGTGGTAGCTCACGCCTGTAATCCCAGCACTCAGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATGTCTGCTAAAAATACAAAAATTAGCTGGGCGTGATGGCGTGCGCCTGTAATAGCAGCTACTTGGGAAGCTGAGACAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGCTGAGACTGCGCCACTGCACTCCAGCCTGGGTGACAAAGCAAGACTCCGTCTCAAAAAATAAATGAACAAGTAAAAATAAATTGAATTATGTTGCGGATATTGTCCGGAATCTTTTTCCTCTGCAAAGTCTCTCATCTACCTGTATGTTGGTGAATACAAAGCAGACGCCTGCGAAATTTTAAGTTATTCCCCTCCAGGTGGCCATTTAGGTTTTTCCTGATTGCACATCACTGTTAATGAGGCTATGGAGTGGAGACCACTCCTAAGCCTCCTCGAAATGTGAGGACTTCTCCAGGAGAGAGTCTGAGGAGTAGCACCACTGGATCCTGGAGTTATTTTATTTTACTTTAAAAAAGTTGTTTTATTATTTTATTTCACTATTTTTGTTGCCCAGGC
GGCTCACGCCTGTGATCCCAGCACTTTGGGAGGCCTAGGTGGATGGATCATCTGAGGTCAGGAGTTCAAGACCAGCCTGGTCAACATGGAGAAACTGTGTCTCTACTAAAAATACAAAAATTAGCTGTGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCATGAGAATGACCTGAACCTGGGAGGTAGAAGTTGCAGTGAGCTGAGATCGCGTCACTGCACCCTAGCCTGGGTGACAGAGCAAGACTCTCTCAAAAAAAAAAAAAAAAGAAAATTGTATGGTGAGAAATGAATGAGATGATATACATACATTCTTTAGCACATGGGTGGTACTCAAGGAAGTCCCTTTTGTCACTCCCTTTGATTTACCCCAGTTCTTCCCCACAGCCCCCTTCCTCAGGTCTTGAGGCCTCCAGAACAGGCCCTGGTTTGCTGGGATGCCCCAGACCTGGGCCCAGGGTGTGGATGTGGCAAGTCCAGCACCCCTGCACTAAGCGGATAGGGGTGTGTTTTCCAGGAGCATCTGGAGAATGGGGTCCAGGCTGTGGTGTGGGTGGCTTCAGGGTCAGCCACGGCAGCGGCTCCCATGCTTACTCTTCCTCTGCCTTGTGTGTCTCTCTTTGACCTCCGCAGCTGCGTGTTCATCTGGCACCTGGGCCCGGAGATCACCAACTGCATGAAGCAGCACTTGCTGGAGATTGACCACCGGCAGCAGCAGCAGCACACAAATGACAAGAAGCGGAGTGGCCACCCCAGGTCCTGGCAGCCCCTGCCTGTCCACCAGAGGGATGAGTCCCTGCCAGGGCCCCATGGAGTGATGCTGGGGACACAGTGGTGGCCAAGACAGCCCTAGGCCCTGCCCTTAGCACACTCACAGCTGAGTAGGGGAGACAGACTTTGAATATGCAGTTACAGTAATAGATACAAAAAGGTTTTGTGGATTTTTTTAATTTTCGTAAATAATAGAGACAGAGTCTTGCTGTGTTGCCCAGGCTTGTCTTGAACTCCTGGGCCCAAGTGATCCTCCCACCTTGGCCTCACAAAGTGCTGGGATCACAGGTGTGAGCCACTGCACCCGGCTATGAGAAGGGTATTAAAGTGGAAAAGCAAAGTGTTTGGCGAGCCTCTCAGCACTGTGATGGGGGATGCCCCAAGCGGCTGTGGGAACAGAGCAGTCCCTGACCGGCCAGCCAAGGGGAGGGGTGGGTAGACAGGGGATCTGAGGGGAGGGCTGCAGTGGGGCCACGTGTCCTCTTACTCCCACGTGAAAGCTGTAGCTTCACTTACTTCTTTGAATCTTCTAAATATATTTCTTTCAAGTCTTTATGTAGCAAAGCCAATTTTATTTGCAGAGAACTCATGTTCTGGTTTTTGATTTGAGGTTTTGGTTTGGGTATTGCTCATTTTGAGTGGGAGGTTTTTTGGTTTTCTTCTCTTCTGCTGCTGGGTGTGTCTGTTTTTGCCATTGGCTCCATGTGGCTCCCAGGGCAATGTGGAGACCAGGCCTTGACATGGGCCACTGGTCCTGAGGTCCTGAGGTGGTGTTAGAGATATCTTGCTTTTGAGGCTCCCACTCCACCCCCAAGCTATGAACCAGGGCCCTGGCTTCAGTGCCTGCCTCATGCCAAGGGTGTTTTAGTTTCCCGTACTCGGGAAGAGCCACCATCATTGCTACCACCTACAGGAAGCCCAGCACAGGACTGCAGCCCCGCTGTCTGCTTGGCTTTCTGTCCCATTGCTGTGGCCCTGAGAGTTTGCATTCGTTTGTAGCCTGGCCTTTGTTAATCTCATCTATTGTGGTGATGTGTTTCTAGTGGGGAGACGGCATCAAGTGAGAGACTTGCCAGCACCATCTTGACCAGCAGCCAAGAATATGTTCACATGGAGCTTAGCACAGGGCCCAGCCCTAGGCAAGTCCCCACCACCAGCCCATTTGCCTGTATTCTCTCCTTACCATCCTCATTCCTGGCTTTAGGCAGGATACGTATGTGTCCACACCTAGTGAGATTCACTCCCTGAGCCCTGGAGAGCAAACAGGATGATCTGGAGGAAGAGTGTGAGCCAGAAGAGATGCTGAAGACACCATCCAAAGATAGCTTGGATCCAGGTTGGAAAAGGGGCCCTATTTTGAACTATGTCAGTGTAGGGAATCATTGCTGGGTTTTGCCCATGACCTTGTTTACAGGGCCTGGCACATATTAAAACTCAGGAGTCGACAGGGTGCGGTGGCTGATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTGGAGACCAGCCTGACCAATATGGTGAAACCCCGTCTCAACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGTGCAACTATAGTCCTAGCTACTAGGGAGGCTGAGACAGGAAAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAATAATAATAATAATAATAATATAAATAAAATAAATAAAATTCAGTAATCAGGCTTAGCGTGGTGGCTCACACCTGGAATTTTAGCACTTTGGGAGGCTGAAATGGGAGGGTCACTTGAGGCCAGGAGGTCGAGACCAGCCTGGGCAACATAGCGAGAGCCCATCTATGCAAAAAAAAAATTTTTTAAAGAAATTAGCCAGGCATAGTGGCACACATCTGTAGTCCCAACTACATGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCACGTACCAAGACCCCGTTCCTACAAAAAGAAAAAAATTAGCCAGGCCTGGTGGTGCACACCTATAGTCCCAGCTACCTGAAAGGCTGAGGCAGGAAGATCGCTTGAGCCCAGGAATTCCATGTTATAATGAGCTATGATTGCACCACTGCACTCCAGCCTGAATAATAGAGTGAGATCCTGTCTGTAGAAAAAGAAAGAAACTCAATAATCATATCAGTCAAGACTCTTTCAGTATAAAAGCAACCAGGCTTAAGTCAGGAAGAGGATTTTTTGGTGCCTGAAAATTGGAGAGGATTAGCTTTCAGCATGGCTAGATCCAGATAGACAGATGATGTTAAAAGGAAGATTTTTTTTTGTATCTTTTGGCTCTGCTTTTCTTCATGTTGGCTTTGCTGATGGACAGACTGTCCCTTTACTAGGGGAAAAGATACCCCCAGCAACTACAGGCTTATAAAACTCCATAGAGAATAGAACACCTCTTTCCTATAGTAGCTCAAGCAGAGTCTTAGGGTTGTGTGGCTCATGTTTCTGGTATCTGCTGTACCCACTTCTGAGCCAGTTGTTGTAGCTGTCCACATCTCAGCATGTGATCACTTCTGAGGGCAGAGACTGTAGTCAGCTCCATCCACTCACACCACCTGACCAGGCATCAAAGATGTGTTTGAGGCCGGGTGTGGTAGCTCACGCCTGTAATCCCAGCACTCAGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATGTCTGCTAAAAATACAAAAATTAGCTGGGCGTGATGGCGTGCGCCTGTAATAGCAGCTACTTGGGAAGCTGAGACAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAGCTGAGACTGCGCCACTGCACTCCAGCCTGGGTGACAAAGCAAGACTCCGTCTCAAAAAATAAATGAACAAGTAAAAATAAATTGAATTATGTTGCGGATATTGTCCGGAATCTTTTTCCTCTGCAAAGTCTCTCATCTACCTGTATGTTGGTGAATACAAAGCAGACGCCTGCGAAATTTTAAGTTATTCCCCTCCAGGTGGCCATTTAGGTTTTTCCTGATTGCACATCACTGTTAATGAGGCTATGGAGTGGAGACCACTCCTAAGCCTCCTCGAAATGTGAGGACTTCTCCAGGAGAGAGTCTGAGGAGTAGCACCACTGGATCCTGGAGTTATTTTATTTTACTTTAAAAAAGTTGTTTTATTATTTTATTTCACTATTTTTGTTGCCCAGGCNN
pathogenic
302,900
Is the genetic change at chromosome 19, position 36100749, within gene WDR62 (WD repeat domain 62) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Microcephaly_2,_primary,_autosomal_recessive,_with_or_without_cortical_malformations']
GTGCAGAGGAAATGAGTTGAGTTGTCAGCATGTTAACTTTGAAATACCTACCAGACATCCATACAGAAATGTAGAGCAGTCACATGTGCAATTCTGAAGTTTCAGAGAAAAGTTCATGAATCCCAGCTGGGCATTCCCAGCACTTTGGGAGGCCGAAACAGGATTCCTTGAGCCCAAGGGTTTGAGACCAGCCTGAGCAACATAGTGAGAGTCCACCTCTACCAAAAACCAACAAAATGGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCCGAGGCGGGCGGATCACTTGAGGTCAGCAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGACAGGAGAATTGCTTGAAACTGAGAGGTGGAGGTTGCAGTGAGCCAAGGTCACGCCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTTCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAGAGAAAGGTTCACGCTGGAGATATGTACCTGGAAGTTGTTTCTGAATGGTATTGAAAGCCAAGAGTCCAGATGGGCTGTGTGAAATGTCCGTGTCGCTCCCTGCAGTGAGTGAGCACTCAGCCAGTTGCCTGACTGTCCGATATCCTTCAAGCTAGGGGACGATGATGTGGCAGATGGCTTGGCCTTCCACGCCAAGCGCAGCTACCAGCCCCACGGCCGCTGGGCAGAGCGGGCCGGCCAAGAGCCCCTCAAGACCATCCTGGATGCCCAGGACCTGGATTGCTACTTTACCCCCATGAAGCCCGAGAGTCTGGAGAACTCCATTCTGGATTCACTGGAGCCACAGAGCCTGGCCAGCCTGCTGAGTGAGGTACACACTTCCACCGCAGCCTGGCCCATAGCCCCGGCACCGTGACGGCCCCAGGGCCTGGCGCCTTAGGCTGACTCCCACTCCATGGGGGCAGGGAGGATTACATGAGATGGTGAAGGGCAGGAGGGTGAGCCCCAGGTCTGTTGCACAGCAAGACTTCCCAAGGCAGACAGGGAGTCTTTGGAAAGTGGGTCACTTGGGGGTTAAGAGCTTGGATGCTAGAGCAGGCTTGTACCCAAGTGGGGGACATTTGGGTAGATCGAGCCCTGACCCTACCCATTCCTGTTGTGTGACCTGGAGTAAGAGGCTTACCTCTTTGGGCTTCAGTCTTCTAAAAAGTAGTCATAATGGGGTCAGGGGCAGTGGCTAACACCTGTAATCCCAGCATTTGGGGAGGCCAAGGCAGGAGGATTACTTAACGATCACTTGAGGAGTTCAAGGCCAGCCTAGGCAACGTAGCAAGATCCCACCTCTACAAAAATATTTTTTAAATTTTTTTGTTTGTTTTGTTTTTAAATGGTAATAACAATCTCTTCTGCCCCAGAGGGCTTTTACAGGAATCCATGCTTAAGTATAGGGCCTGGGCTCTTAGAGGTGCCCGTGCAACTTTAGCTCTTTCTCTACTATTTTCCAAACAAAATTCATTTTTATCCTATCCTATAATTTGTCATCTTCATTGTGGTATAATATACATCCAGTAACATGCACAGATTTTAGGTATACAGCTTGATGAACTATCTGTGTAATTCACGTGTGTCCACTACCCTGGGCAAAATCTGGAGTGTTTTCTACCTCATAGAAACCCCCTTCTGCCCTTCCCAGTCAGGTCCCCGCACCAGGATAACCAGTGTTCTGACCTCTCACCAAGGACTGGGTTTCCTATTCTTGAACTTGATATAAATAGACACGTAGAGGGTTGGGCCTCCTATTTTTGGTGCCACACCTCTTCCTCATCTGTAAAGGGACTGATAATGCAGGGGCAGACCAGGACAAGCTGGTTGCGAGTGGAGGGCATGGCACAGGCCCTGGTTCACAGCCTCCAGCAGTGGGGCTGCTGGCATGGTTCCTGGCGCACTGTTGGTGGCCCCAGCCATGCCTGCCTCAGAATGGCTGTGCTGTCTTCCCCATAGTCAGAGAGTCCCCAGGAAGCTGGCCGCGGGCACCCCTCCTTCCTGCCCCAGCAGAAGGAATCATCTGAGGCCAGTGAGCTCATCCTCTACTCTCTGGAGGCAGAAGTGACAGTCACAGGGACAGACAGGTGGGTGTCCTTTCCACCAAGGGAGCCTTAGTTGGAGGAACCCCCAGCTGATAGCTGCATCCTGGAAGAAGTGCTCTCTGCCTTCCCAGTGGGCTTGTGGGAGTGGGGACAGTTGAGGCCTGGATGGGGCAGGAGCCCAGCCTTAGTTCCCTGGTTCCAGGTGGGGTACAGGAGGGCCTGACCTGGGGGAAGGAGGGGGCATTTGGAGGAGGCGGGGAGGCTGTCGCAGTGCTCCTGCAGGAGCAGCGGGTACAGGTGCCTAGGGGCTCCGGGTGGGGCTAGCTGTTGAGTCTCCAGCTGAAGTCCTTGTTCCCTCTCTGCCCCCACTGGCACTGCAGCCAGTATTGCAGGAAGGAGGTGGAGGCCGGGCCTGGAGACCAGCAGGGCGACTCCTACCTCAGGGTGTCCTCCGACAGCCCAAAGGACCAGAGCCCGCCTGAGGGTGAGTGCAGGGCAGGCAGGGACCCTGTGACAGTCTGTGCGTTCAGCCAAGCCCCTTTCTGGGCACCGATGGTGACTTTGACCCAGTACTGAAGCTCAGAGTCTGTCGAGGAAGACACATGTGGTCCCTGCTGCTGCCTGAGGATTCTGGGCCCAGCTGCCTACAGCTGAGAGCCCAGCTCTGCCACCTCCTTGATGTGGAACTTCCCTTATTCATAAAATGGGGGGCAGCTGCTCTTACCATCCCTCCTCCAGATGGGGAAACTGAGCCCAGGGAAGGGTAGCCCTGGCCCTGGCTCACCAGAATGGTCAGGCTGTGGGCTCCTGACCCCGACTCTGTCCTTCAGACTCGGGGGAGTCAGAGGCCGACCTGGAGTGCAGCTTCGCAGCCATCCACTCCCCAGCTCCGCCTCCTGACCCTGCCCCTCGGTTTGCCACGTCGCTGCCCCATTTCCCAGGTAAGCAGGGGCCAGACACGCAGGGGACTCGCTGCTCGGGCCTGGCTTAGGGCCAGTCACAATGTCTAAGCACAGGCCCTGCACTTGGAGCCCACTGAGCCTGGAAGACGGGGATCCCTGCTTCTCAGCCTGCGGGCAACAGGGCAGGGATGGGTGGGGCCCGCTTTCTCCATTTCAGGTGGCGTCTGCTGTGACTCATGGTGTTGGCTCCTCTTGTCCCTCCCCTCCTTCCCTGTCAGGATGCGCAGGTCCCACAGAAGATGAGCTGTCCCTGCCCGAGGGACCCAGCGTCCCCAGCAGCTCCCTACCCCAGACTCCGGAGCAGGAGAAGTTCCTCCGCCACCACTTTGAGACACTGACTGAGTCCCCCTGCAGAGGTAGGGCCCTGCCTCACCCACACCTGCCGAGGCCGTCTGTGCAGCCTGGGCACAGCATTGGCGTCCCTGGAGTTGGCTCCCCAGCAGGGCCAGGAGGGTGAGTGGAGAGCAACTGCTTCGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCGGTGGCCCAATCTTGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATCCACAACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGACTGGTCTCAAACTCCTGCCTCAGATGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCACTGCTTCACTCTTGACCTGAGCCTCACGATGCCTCCTCACCCACTGCCCCTGCTCGTACCCTGTGTCTGTACATAAGGGTTTCTGGGGAGTGCCCCGCTGGGCTGTGGGCTGGCCTAGGGCCAGGGCTGCTCGGCGGGAAGGGTTATGAGGGTCCCCTCGGGATCTTCCCCTAGAGCTCTTCCCCGCAGCTCTGGGAGACGTGGAGGCCTCTGAAGCTGAAGACCACTTCTTCA
GTGCAGAGGAAATGAGTTGAGTTGTCAGCATGTTAACTTTGAAATACCTACCAGACATCCATACAGAAATGTAGAGCAGTCACATGTGCAATTCTGAAGTTTCAGAGAAAAGTTCATGAATCCCAGCTGGGCATTCCCAGCACTTTGGGAGGCCGAAACAGGATTCCTTGAGCCCAAGGGTTTGAGACCAGCCTGAGCAACATAGTGAGAGTCCACCTCTACCAAAAACCAACAAAATGGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCCGAGGCGGGCGGATCACTTGAGGTCAGCAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGACAGGAGAATTGCTTGAAACTGAGAGGTGGAGGTTGCAGTGAGCCAAGGTCACGCCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTTCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAGAGAAAGGTTCACGCTGGAGATATGTACCTGGAAGTTGTTTCTGAATGGTATTGAAAGCCAAGAGTCCAGATGGGCTGTGTGAAATGTCCGTGTCGCTCCCTGCAGTGAGTGAGCACTCAGCCAGTTGCCTGACTGTCCGATATCCTTCAAGCTAGGGGACGATGATGTGGCAGATGGCTTGGCCTTCCACGCCAAGCGCAGCTACCAGCCCCACGGCCGCTGGGCAGAGCGGGCCGGCCAAGAGCCCCTCAAGACCATCCTGGATGCCCAGGACCTGGATTGCTACTTTACCCCCATGAAGCCCGAGAGTCTGGAGAACTCCATTCTGGATTCACTGGAGCCACAGAGCCTGGCCAGCCTGCTGAGTGAGGTACACACTTCCACCGCAGCCTGGCCCATAGCCCCGGCACCGTGACGGCCCCAGGGCCTGGCGCCTTAGGCTGACTCCCACTCCATGGGGGCAGGGAGGATTACATGAGATGGTGAAGGGCAGGAGGGTGAGCCCCAGGTCTGTTGCACAGCAAGACTTCCCAAGGCAGACAGGGAGTCTTTGGAAAGTGGGTCACTTGGGGGTTAAGAGCTTGGATGCTAGAGCAGGCTTGTACCCAAGTGGGGGACATTTGGGTAGATCGAGCCCTGACCCTACCCATTCCTGTTGTGTGACCTGGAGTAAGAGGCTTACCTCTTTGGGCTTCAGTCTTCTAAAAAGTAGTCATAATGGGGTCAGGGGCAGTGGCTAACACCTGTAATCCCAGCATTTGGGGAGGCCAAGGCAGGAGGATTACTTAACGATCACTTGAGGAGTTCAAGGCCAGCCTAGGCAACGTAGCAAGATCCCACCTCTACAAAAATATTTTTTAAATTTTTTTGTTTGTTTTGTTTTTAAATGGTAATAACAATCTCTTCTGCCCCAGAGGGCTTTTACAGGAATCCATGCTTAAGTATAGGGCCTGGGCTCTTAGAGGTGCCCGTGCAACTTTAGCTCTTTCTCTACTATTTTCCAAACAAAATTCATTTTTATCCTATCCTATAATTTGTCATCTTCATTGTGGTATAATATACATCCAGTAACATGCACAGATTTTAGGTATACAGCTTGATGAACTATCTGTGTAATTCACGTGTGTCCACTACCCTGGGCAAAATCTGGAGTGTTTTCTACCTCATAGAAACCCCCTTCTGCCCTTCCCAGTCAGGTCCCCGCACCAGGATAACCAGTGTTCTGACCTCTCACCAAGGACTGGGTTTCCTATTCTTGAACTTGATATAAATAGACACGTAGAGGGTTGGGCCTCCTATTTTTGGTGCCACACCTCTTCCTCATCTGTAAAGGGACTGATAATGCAGGGGCAGACCAGGACAAGCTGGTTGCGAGTGGAGGGCATGGCACAGGCCCTGGTTCACAGCCTCCAGCAGTGGGGCTGCTGGCATGGTTCCTGGCGCACTGTTGGTGGCCCCAGCCATGCCTGCCTCAGAATGGCTGTGCTGTCTTCCCCATAGTCAGAGTCCCCAGGAAGCTGGCCGCGGGCACCCCTCCTTCCTGCCCCAGCAGAAGGAATCATCTGAGGCCAGTGAGCTCATCCTCTACTCTCTGGAGGCAGAAGTGACAGTCACAGGGACAGACAGGTGGGTGTCCTTTCCACCAAGGGAGCCTTAGTTGGAGGAACCCCCAGCTGATAGCTGCATCCTGGAAGAAGTGCTCTCTGCCTTCCCAGTGGGCTTGTGGGAGTGGGGACAGTTGAGGCCTGGATGGGGCAGGAGCCCAGCCTTAGTTCCCTGGTTCCAGGTGGGGTACAGGAGGGCCTGACCTGGGGGAAGGAGGGGGCATTTGGAGGAGGCGGGGAGGCTGTCGCAGTGCTCCTGCAGGAGCAGCGGGTACAGGTGCCTAGGGGCTCCGGGTGGGGCTAGCTGTTGAGTCTCCAGCTGAAGTCCTTGTTCCCTCTCTGCCCCCACTGGCACTGCAGCCAGTATTGCAGGAAGGAGGTGGAGGCCGGGCCTGGAGACCAGCAGGGCGACTCCTACCTCAGGGTGTCCTCCGACAGCCCAAAGGACCAGAGCCCGCCTGAGGGTGAGTGCAGGGCAGGCAGGGACCCTGTGACAGTCTGTGCGTTCAGCCAAGCCCCTTTCTGGGCACCGATGGTGACTTTGACCCAGTACTGAAGCTCAGAGTCTGTCGAGGAAGACACATGTGGTCCCTGCTGCTGCCTGAGGATTCTGGGCCCAGCTGCCTACAGCTGAGAGCCCAGCTCTGCCACCTCCTTGATGTGGAACTTCCCTTATTCATAAAATGGGGGGCAGCTGCTCTTACCATCCCTCCTCCAGATGGGGAAACTGAGCCCAGGGAAGGGTAGCCCTGGCCCTGGCTCACCAGAATGGTCAGGCTGTGGGCTCCTGACCCCGACTCTGTCCTTCAGACTCGGGGGAGTCAGAGGCCGACCTGGAGTGCAGCTTCGCAGCCATCCACTCCCCAGCTCCGCCTCCTGACCCTGCCCCTCGGTTTGCCACGTCGCTGCCCCATTTCCCAGGTAAGCAGGGGCCAGACACGCAGGGGACTCGCTGCTCGGGCCTGGCTTAGGGCCAGTCACAATGTCTAAGCACAGGCCCTGCACTTGGAGCCCACTGAGCCTGGAAGACGGGGATCCCTGCTTCTCAGCCTGCGGGCAACAGGGCAGGGATGGGTGGGGCCCGCTTTCTCCATTTCAGGTGGCGTCTGCTGTGACTCATGGTGTTGGCTCCTCTTGTCCCTCCCCTCCTTCCCTGTCAGGATGCGCAGGTCCCACAGAAGATGAGCTGTCCCTGCCCGAGGGACCCAGCGTCCCCAGCAGCTCCCTACCCCAGACTCCGGAGCAGGAGAAGTTCCTCCGCCACCACTTTGAGACACTGACTGAGTCCCCCTGCAGAGGTAGGGCCCTGCCTCACCCACACCTGCCGAGGCCGTCTGTGCAGCCTGGGCACAGCATTGGCGTCCCTGGAGTTGGCTCCCCAGCAGGGCCAGGAGGGTGAGTGGAGAGCAACTGCTTCGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCGGTGGCCCAATCTTGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATCCACAACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGACTGGTCTCAAACTCCTGCCTCAGATGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCACTGCTTCACTCTTGACCTGAGCCTCACGATGCCTCCTCACCCACTGCCCCTGCTCGTACCCTGTGTCTGTACATAAGGGTTTCTGGGGAGTGCCCCGCTGGGCTGTGGGCTGGCCTAGGGCCAGGGCTGCTCGGCGGGAAGGGTTATGAGGGTCCCCTCGGGATCTTCCCCTAGAGCTCTTCCCCGCAGCTCTGGGAGACGTGGAGGCCTCTGAAGCTGAAGACCACTTCTTCANN
pathogenic
302,911
Considering the genetic mutation at chromosome 19, position 36100866, impacting WDR62 (WD repeat domain 62): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['WDR62-related_disorder']
GAATCCCAGCTGGGCATTCCCAGCACTTTGGGAGGCCGAAACAGGATTCCTTGAGCCCAAGGGTTTGAGACCAGCCTGAGCAACATAGTGAGAGTCCACCTCTACCAAAAACCAACAAAATGGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCCGAGGCGGGCGGATCACTTGAGGTCAGCAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGACAGGAGAATTGCTTGAAACTGAGAGGTGGAGGTTGCAGTGAGCCAAGGTCACGCCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTTCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAGAGAAAGGTTCACGCTGGAGATATGTACCTGGAAGTTGTTTCTGAATGGTATTGAAAGCCAAGAGTCCAGATGGGCTGTGTGAAATGTCCGTGTCGCTCCCTGCAGTGAGTGAGCACTCAGCCAGTTGCCTGACTGTCCGATATCCTTCAAGCTAGGGGACGATGATGTGGCAGATGGCTTGGCCTTCCACGCCAAGCGCAGCTACCAGCCCCACGGCCGCTGGGCAGAGCGGGCCGGCCAAGAGCCCCTCAAGACCATCCTGGATGCCCAGGACCTGGATTGCTACTTTACCCCCATGAAGCCCGAGAGTCTGGAGAACTCCATTCTGGATTCACTGGAGCCACAGAGCCTGGCCAGCCTGCTGAGTGAGGTACACACTTCCACCGCAGCCTGGCCCATAGCCCCGGCACCGTGACGGCCCCAGGGCCTGGCGCCTTAGGCTGACTCCCACTCCATGGGGGCAGGGAGGATTACATGAGATGGTGAAGGGCAGGAGGGTGAGCCCCAGGTCTGTTGCACAGCAAGACTTCCCAAGGCAGACAGGGAGTCTTTGGAAAGTGGGTCACTTGGGGGTTAAGAGCTTGGATGCTAGAGCAGGCTTGTACCCAAGTGGGGGACATTTGGGTAGATCGAGCCCTGACCCTACCCATTCCTGTTGTGTGACCTGGAGTAAGAGGCTTACCTCTTTGGGCTTCAGTCTTCTAAAAAGTAGTCATAATGGGGTCAGGGGCAGTGGCTAACACCTGTAATCCCAGCATTTGGGGAGGCCAAGGCAGGAGGATTACTTAACGATCACTTGAGGAGTTCAAGGCCAGCCTAGGCAACGTAGCAAGATCCCACCTCTACAAAAATATTTTTTAAATTTTTTTGTTTGTTTTGTTTTTAAATGGTAATAACAATCTCTTCTGCCCCAGAGGGCTTTTACAGGAATCCATGCTTAAGTATAGGGCCTGGGCTCTTAGAGGTGCCCGTGCAACTTTAGCTCTTTCTCTACTATTTTCCAAACAAAATTCATTTTTATCCTATCCTATAATTTGTCATCTTCATTGTGGTATAATATACATCCAGTAACATGCACAGATTTTAGGTATACAGCTTGATGAACTATCTGTGTAATTCACGTGTGTCCACTACCCTGGGCAAAATCTGGAGTGTTTTCTACCTCATAGAAACCCCCTTCTGCCCTTCCCAGTCAGGTCCCCGCACCAGGATAACCAGTGTTCTGACCTCTCACCAAGGACTGGGTTTCCTATTCTTGAACTTGATATAAATAGACACGTAGAGGGTTGGGCCTCCTATTTTTGGTGCCACACCTCTTCCTCATCTGTAAAGGGACTGATAATGCAGGGGCAGACCAGGACAAGCTGGTTGCGAGTGGAGGGCATGGCACAGGCCCTGGTTCACAGCCTCCAGCAGTGGGGCTGCTGGCATGGTTCCTGGCGCACTGTTGGTGGCCCCAGCCATGCCTGCCTCAGAATGGCTGTGCTGTCTTCCCCATAGTCAGAGAGTCCCCAGGAAGCTGGCCGCGGGCACCCCTCCTTCCTGCCCCAGCAGAAGGAATCATCTGAGGCCAGTGAGCTCATCCTCTACTCTCTGGAGGCAGAAGTGACAGTCACAGGGACAGACAGGTGGGTGTCCTTTCCACCAAGGGAGCCTTAGTTGGAGGAACCCCCAGCTGATAGCTGCATCCTGGAAGAAGTGCTCTCTGCCTTCCCAGTGGGCTTGTGGGAGTGGGGACAGTTGAGGCCTGGATGGGGCAGGAGCCCAGCCTTAGTTCCCTGGTTCCAGGTGGGGTACAGGAGGGCCTGACCTGGGGGAAGGAGGGGGCATTTGGAGGAGGCGGGGAGGCTGTCGCAGTGCTCCTGCAGGAGCAGCGGGTACAGGTGCCTAGGGGCTCCGGGTGGGGCTAGCTGTTGAGTCTCCAGCTGAAGTCCTTGTTCCCTCTCTGCCCCCACTGGCACTGCAGCCAGTATTGCAGGAAGGAGGTGGAGGCCGGGCCTGGAGACCAGCAGGGCGACTCCTACCTCAGGGTGTCCTCCGACAGCCCAAAGGACCAGAGCCCGCCTGAGGGTGAGTGCAGGGCAGGCAGGGACCCTGTGACAGTCTGTGCGTTCAGCCAAGCCCCTTTCTGGGCACCGATGGTGACTTTGACCCAGTACTGAAGCTCAGAGTCTGTCGAGGAAGACACATGTGGTCCCTGCTGCTGCCTGAGGATTCTGGGCCCAGCTGCCTACAGCTGAGAGCCCAGCTCTGCCACCTCCTTGATGTGGAACTTCCCTTATTCATAAAATGGGGGGCAGCTGCTCTTACCATCCCTCCTCCAGATGGGGAAACTGAGCCCAGGGAAGGGTAGCCCTGGCCCTGGCTCACCAGAATGGTCAGGCTGTGGGCTCCTGACCCCGACTCTGTCCTTCAGACTCGGGGGAGTCAGAGGCCGACCTGGAGTGCAGCTTCGCAGCCATCCACTCCCCAGCTCCGCCTCCTGACCCTGCCCCTCGGTTTGCCACGTCGCTGCCCCATTTCCCAGGTAAGCAGGGGCCAGACACGCAGGGGACTCGCTGCTCGGGCCTGGCTTAGGGCCAGTCACAATGTCTAAGCACAGGCCCTGCACTTGGAGCCCACTGAGCCTGGAAGACGGGGATCCCTGCTTCTCAGCCTGCGGGCAACAGGGCAGGGATGGGTGGGGCCCGCTTTCTCCATTTCAGGTGGCGTCTGCTGTGACTCATGGTGTTGGCTCCTCTTGTCCCTCCCCTCCTTCCCTGTCAGGATGCGCAGGTCCCACAGAAGATGAGCTGTCCCTGCCCGAGGGACCCAGCGTCCCCAGCAGCTCCCTACCCCAGACTCCGGAGCAGGAGAAGTTCCTCCGCCACCACTTTGAGACACTGACTGAGTCCCCCTGCAGAGGTAGGGCCCTGCCTCACCCACACCTGCCGAGGCCGTCTGTGCAGCCTGGGCACAGCATTGGCGTCCCTGGAGTTGGCTCCCCAGCAGGGCCAGGAGGGTGAGTGGAGAGCAACTGCTTCGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCGGTGGCCCAATCTTGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATCCACAACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGACTGGTCTCAAACTCCTGCCTCAGATGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCACTGCTTCACTCTTGACCTGAGCCTCACGATGCCTCCTCACCCACTGCCCCTGCTCGTACCCTGTGTCTGTACATAAGGGTTTCTGGGGAGTGCCCCGCTGGGCTGTGGGCTGGCCTAGGGCCAGGGCTGCTCGGCGGGAAGGGTTATGAGGGTCCCCTCGGGATCTTCCCCTAGAGCTCTTCCCCGCAGCTCTGGGAGACGTGGAGGCCTCTGAAGCTGAAGACCACTTCTTCAACCCACGCCTGAGTATCTCCACGCAGTTCCTCTCAAGCCTCCAGAAGGCATCCAGGTAGAAGCTGGCCAAGCACTGCCCACCCTCTGGCTCCTCAACAGTGCCCCAGGGCAGGCTGA
GAATCCCAGCTGGGCATTCCCAGCACTTTGGGAGGCCGAAACAGGATTCCTTGAGCCCAAGGGTTTGAGACCAGCCTGAGCAACATAGTGAGAGTCCACCTCTACCAAAAACCAACAAAATGGGCTGGGCGCAGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAAGCCGAGGCGGGCGGATCACTTGAGGTCAGCAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCTGGAGGCTGAGACAGGAGAATTGCTTGAAACTGAGAGGTGGAGGTTGCAGTGAGCCAAGGTCACGCCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTTCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAGAGAAAGGTTCACGCTGGAGATATGTACCTGGAAGTTGTTTCTGAATGGTATTGAAAGCCAAGAGTCCAGATGGGCTGTGTGAAATGTCCGTGTCGCTCCCTGCAGTGAGTGAGCACTCAGCCAGTTGCCTGACTGTCCGATATCCTTCAAGCTAGGGGACGATGATGTGGCAGATGGCTTGGCCTTCCACGCCAAGCGCAGCTACCAGCCCCACGGCCGCTGGGCAGAGCGGGCCGGCCAAGAGCCCCTCAAGACCATCCTGGATGCCCAGGACCTGGATTGCTACTTTACCCCCATGAAGCCCGAGAGTCTGGAGAACTCCATTCTGGATTCACTGGAGCCACAGAGCCTGGCCAGCCTGCTGAGTGAGGTACACACTTCCACCGCAGCCTGGCCCATAGCCCCGGCACCGTGACGGCCCCAGGGCCTGGCGCCTTAGGCTGACTCCCACTCCATGGGGGCAGGGAGGATTACATGAGATGGTGAAGGGCAGGAGGGTGAGCCCCAGGTCTGTTGCACAGCAAGACTTCCCAAGGCAGACAGGGAGTCTTTGGAAAGTGGGTCACTTGGGGGTTAAGAGCTTGGATGCTAGAGCAGGCTTGTACCCAAGTGGGGGACATTTGGGTAGATCGAGCCCTGACCCTACCCATTCCTGTTGTGTGACCTGGAGTAAGAGGCTTACCTCTTTGGGCTTCAGTCTTCTAAAAAGTAGTCATAATGGGGTCAGGGGCAGTGGCTAACACCTGTAATCCCAGCATTTGGGGAGGCCAAGGCAGGAGGATTACTTAACGATCACTTGAGGAGTTCAAGGCCAGCCTAGGCAACGTAGCAAGATCCCACCTCTACAAAAATATTTTTTAAATTTTTTTGTTTGTTTTGTTTTTAAATGGTAATAACAATCTCTTCTGCCCCAGAGGGCTTTTACAGGAATCCATGCTTAAGTATAGGGCCTGGGCTCTTAGAGGTGCCCGTGCAACTTTAGCTCTTTCTCTACTATTTTCCAAACAAAATTCATTTTTATCCTATCCTATAATTTGTCATCTTCATTGTGGTATAATATACATCCAGTAACATGCACAGATTTTAGGTATACAGCTTGATGAACTATCTGTGTAATTCACGTGTGTCCACTACCCTGGGCAAAATCTGGAGTGTTTTCTACCTCATAGAAACCCCCTTCTGCCCTTCCCAGTCAGGTCCCCGCACCAGGATAACCAGTGTTCTGACCTCTCACCAAGGACTGGGTTTCCTATTCTTGAACTTGATATAAATAGACACGTAGAGGGTTGGGCCTCCTATTTTTGGTGCCACACCTCTTCCTCATCTGTAAAGGGACTGATAATGCAGGGGCAGACCAGGACAAGCTGGTTGCGAGTGGAGGGCATGGCACAGGCCCTGGTTCACAGCCTCCAGCAGTGGGGCTGCTGGCATGGTTCCTGGCGCACTGTTGGTGGCCCCAGCCATGCCTGCCTCAGAATGGCTGTGCTGTCTTCCCCATAGTCAGAGAGTCCCCAGGAAGCTGGCCGCGGGCACCCCTCCTTCCTGCCCCAGCAGAAGGAATCATCTGAGGCCAGTGAGCTCATCCTCTACTCTCTGGAGGCAGAAGTGACAGTCACAGGGACAGGTGGGTGTCCTTTCCACCAAGGGAGCCTTAGTTGGAGGAACCCCCAGCTGATAGCTGCATCCTGGAAGAAGTGCTCTCTGCCTTCCCAGTGGGCTTGTGGGAGTGGGGACAGTTGAGGCCTGGATGGGGCAGGAGCCCAGCCTTAGTTCCCTGGTTCCAGGTGGGGTACAGGAGGGCCTGACCTGGGGGAAGGAGGGGGCATTTGGAGGAGGCGGGGAGGCTGTCGCAGTGCTCCTGCAGGAGCAGCGGGTACAGGTGCCTAGGGGCTCCGGGTGGGGCTAGCTGTTGAGTCTCCAGCTGAAGTCCTTGTTCCCTCTCTGCCCCCACTGGCACTGCAGCCAGTATTGCAGGAAGGAGGTGGAGGCCGGGCCTGGAGACCAGCAGGGCGACTCCTACCTCAGGGTGTCCTCCGACAGCCCAAAGGACCAGAGCCCGCCTGAGGGTGAGTGCAGGGCAGGCAGGGACCCTGTGACAGTCTGTGCGTTCAGCCAAGCCCCTTTCTGGGCACCGATGGTGACTTTGACCCAGTACTGAAGCTCAGAGTCTGTCGAGGAAGACACATGTGGTCCCTGCTGCTGCCTGAGGATTCTGGGCCCAGCTGCCTACAGCTGAGAGCCCAGCTCTGCCACCTCCTTGATGTGGAACTTCCCTTATTCATAAAATGGGGGGCAGCTGCTCTTACCATCCCTCCTCCAGATGGGGAAACTGAGCCCAGGGAAGGGTAGCCCTGGCCCTGGCTCACCAGAATGGTCAGGCTGTGGGCTCCTGACCCCGACTCTGTCCTTCAGACTCGGGGGAGTCAGAGGCCGACCTGGAGTGCAGCTTCGCAGCCATCCACTCCCCAGCTCCGCCTCCTGACCCTGCCCCTCGGTTTGCCACGTCGCTGCCCCATTTCCCAGGTAAGCAGGGGCCAGACACGCAGGGGACTCGCTGCTCGGGCCTGGCTTAGGGCCAGTCACAATGTCTAAGCACAGGCCCTGCACTTGGAGCCCACTGAGCCTGGAAGACGGGGATCCCTGCTTCTCAGCCTGCGGGCAACAGGGCAGGGATGGGTGGGGCCCGCTTTCTCCATTTCAGGTGGCGTCTGCTGTGACTCATGGTGTTGGCTCCTCTTGTCCCTCCCCTCCTTCCCTGTCAGGATGCGCAGGTCCCACAGAAGATGAGCTGTCCCTGCCCGAGGGACCCAGCGTCCCCAGCAGCTCCCTACCCCAGACTCCGGAGCAGGAGAAGTTCCTCCGCCACCACTTTGAGACACTGACTGAGTCCCCCTGCAGAGGTAGGGCCCTGCCTCACCCACACCTGCCGAGGCCGTCTGTGCAGCCTGGGCACAGCATTGGCGTCCCTGGAGTTGGCTCCCCAGCAGGGCCAGGAGGGTGAGTGGAGAGCAACTGCTTCGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCGGTGGCCCAATCTTGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATCCACAACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGACTGGTCTCAAACTCCTGCCTCAGATGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCACTGCTTCACTCTTGACCTGAGCCTCACGATGCCTCCTCACCCACTGCCCCTGCTCGTACCCTGTGTCTGTACATAAGGGTTTCTGGGGAGTGCCCCGCTGGGCTGTGGGCTGGCCTAGGGCCAGGGCTGCTCGGCGGGAAGGGTTATGAGGGTCCCCTCGGGATCTTCCCCTAGAGCTCTTCCCCGCAGCTCTGGGAGACGTGGAGGCCTCTGAAGCTGAAGACCACTTCTTCAACCCACGCCTGAGTATCTCCACGCAGTTCCTCTCAAGCCTCCAGAAGGCATCCAGGTAGAAGCTGGCCAAGCACTGCCCACCCTCTGGCTCCTCAACAGTGCCCCAGGGCAGGCTGANNNN
pathogenic
302,913
The genetic variant at chromosome 19, position 36103555, affecting gene WDR62 (WD repeat domain 62): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Microcephaly_2,_primary,_autosomal_recessive,_with_or_without_cortical_malformations']
CCTTGATGTGGAACTTCCCTTATTCATAAAATGGGGGGCAGCTGCTCTTACCATCCCTCCTCCAGATGGGGAAACTGAGCCCAGGGAAGGGTAGCCCTGGCCCTGGCTCACCAGAATGGTCAGGCTGTGGGCTCCTGACCCCGACTCTGTCCTTCAGACTCGGGGGAGTCAGAGGCCGACCTGGAGTGCAGCTTCGCAGCCATCCACTCCCCAGCTCCGCCTCCTGACCCTGCCCCTCGGTTTGCCACGTCGCTGCCCCATTTCCCAGGTAAGCAGGGGCCAGACACGCAGGGGACTCGCTGCTCGGGCCTGGCTTAGGGCCAGTCACAATGTCTAAGCACAGGCCCTGCACTTGGAGCCCACTGAGCCTGGAAGACGGGGATCCCTGCTTCTCAGCCTGCGGGCAACAGGGCAGGGATGGGTGGGGCCCGCTTTCTCCATTTCAGGTGGCGTCTGCTGTGACTCATGGTGTTGGCTCCTCTTGTCCCTCCCCTCCTTCCCTGTCAGGATGCGCAGGTCCCACAGAAGATGAGCTGTCCCTGCCCGAGGGACCCAGCGTCCCCAGCAGCTCCCTACCCCAGACTCCGGAGCAGGAGAAGTTCCTCCGCCACCACTTTGAGACACTGACTGAGTCCCCCTGCAGAGGTAGGGCCCTGCCTCACCCACACCTGCCGAGGCCGTCTGTGCAGCCTGGGCACAGCATTGGCGTCCCTGGAGTTGGCTCCCCAGCAGGGCCAGGAGGGTGAGTGGAGAGCAACTGCTTCGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCGGTGGCCCAATCTTGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATCCACAACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGACTGGTCTCAAACTCCTGCCTCAGATGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCACTGCTTCACTCTTGACCTGAGCCTCACGATGCCTCCTCACCCACTGCCCCTGCTCGTACCCTGTGTCTGTACATAAGGGTTTCTGGGGAGTGCCCCGCTGGGCTGTGGGCTGGCCTAGGGCCAGGGCTGCTCGGCGGGAAGGGTTATGAGGGTCCCCTCGGGATCTTCCCCTAGAGCTCTTCCCCGCAGCTCTGGGAGACGTGGAGGCCTCTGAAGCTGAAGACCACTTCTTCAACCCACGCCTGAGTATCTCCACGCAGTTCCTCTCAAGCCTCCAGAAGGCATCCAGGTAGAAGCTGGCCAAGCACTGCCCACCCTCTGGCTCCTCAACAGTGCCCCAGGGCAGGCTGAATGAGAATCATCCCCCCTGCTCTCCTCCCCACAGGTTCACCCATACCTTCCCTCCCCGGGCAACCCAGTGCCTTGTGAAGTCTCCAGAGGTCAAGCTCATGGACCGAGGCGGAAGCCAGCCCAGAGCAGGTACTGGCTACGCCTCCCCAGACAGGACCCACGTGAGTATTGGGCCCACCTCCGTCAGGGCACGGGGCTGGGAACCCTGAGGCCTTGTCCTCACCTCAGAGCTGTGCCTGCAGGTCCTCGCTGCAGGGAAGGCTGAAGAGACCCTGGAGGCCTGGCGCCCACCACGTGAGTGCCCCAGTCCCAGACGGACAGTCCTGGGTTTCTCGGCGAGTGGCCGGATGTCCAGCCTAGCTGTGGGGCGTGGGGGCCCTAGCCATCAGTTCTGTGTGGTGGAGTCAGTGCCATCTGCTTCCGTTACAGCTCCCTGCCTTACGAGCCTGGCGTCCTGTGTCCCTGCTTCCTCCGTGCTGCCCACAGACAGGAATCTCCCAACGCCCACATCTGCACCCACCCCAGGCCTGGCTCAGGGTGTCCATGCCCCCTCCACCTGTTCCTACATGGAGGCCACTGCCAGCTCCCGTGCCAGGATATCACGCAGCATCTCCCTCGGTGACAGTGAGGGCCCTATCGTGGCCACACTGGCCCAGCCCCTCCGTAGGCCATCGTCCGTTGGGGAGCTGGCCTCCTTGGGCCAGGAGCTTCAGGCCATCACCACCGCGACAACACCCAGTTTGGACAGTGAGGGCCAAGAGCCTGCCCTGCGTTCCTGGGGCAACCACGAGGCCCGGGCCAACCTGAGACTGACCCTGTCAAGTGCCTGTGATGGGCTCCTGCAGCCCCCCGTGGATACCCAGCCTGGCGTCACCGTCCCTGCAGTGAGCTTCCCAGCCCCTAGCCCTGTGGAAGAGAGCGCCCTGAGGCTCCACGGCTCTGCCTTTCGCCCAAGTCTCCCAGCTCCTGAGTCCCCTGGCCTTCCTGCCCACCCCAGTAACCCCCAGCTTCCAGAGGCCCGGCCTGGCATCCCTGGCGGCACTGCCTCCCTCCTGGAGCCCACCTCCGGTGAGTACAGCCCTGGAGCAAGGACTGTCCCCTAAGCTCATCCTGTGTGCTAGTTGGCTCAGCTCCAAAGATGGATACTTGACCTGGCCACAGGGACTGTGCCATTCATTCATTCGTGCATTAACTTAAATATTTAATGAGCATTACATGTTGGGCTTTGTGCTAAACCCTGGGACATGGGACATGGTGGTAAACAACACAGAGAACTGACAGCTTCAATGGGGACAATGCCCAGACTAAACCTTTAAGGAACCCGTCATATGTATCACGAAGTGACACATGCTTAGGAGGGACAGAGGAGGGCGAGGGAGTGCAGGGTGGGGACAGGGGTTGGGATTACAAACCAGAAGATAAGAAGAGGCTTCAGGGAGGAGGCTGCATTGGAGCAGAGACCTGTAGGAGTGAAGGGGAGGGAGCCTTGGGGACCCAGAGAAGTGTTCCAGACAGAAGTACAGCATGGAGTCCACCCAGTCGCTCTGGCCGCTCACACCAATGGAATGCAGCTCATCTTGCTCATTCCCTTCTCTCTACCCCAGGTGCACTTGGTCTGTTACAGGGCAGCCCTGCCCGCTGGAGTGAGCCCTGGGTGCCGGTTGAAGCCCTGCCCCCATCTCCCCTTGAGCTGAGCAGGGTGGGGAACATCTTGCACAGGCTGCAGACCACCTTCCAAGAAGCCCTCGACCTTTACCGTGTGGTGAGCTAAGCCCCAGAGTTGGGAAAGGGTTGAGGGGTCTCTTGAGACCGCCCGGCCTTGGTGGCCCCTGACAAGGCTGGCATCCCTTGCAGTTGGTCTCCAGTGGCCAGGTGGACACCGGGCAGCAGCAGGCACGGACTGAGCTGGTCTCCACCTTCCTGTGGATCCACAGCCAGCTGGAGGCTGAATGCCTGGTGGGGACTAGTGTGGCCCCAGCCCAGGCTCTGCCCAGCCCAGGACCCCCGTCCCCACCGACGCTGTACCCCCTGGCCAGCCCAGACCTGCAGGCCCTGCTGGAACACTACTCGGAGCTGCTGGTGCAGGCCGTGCGGAGGAAGGCACGGGGGCACTGAGGGCGCAGCCCCTCCACCGCAGCCCTGCTGCTTCTGAGGACTTAGGTATTTTAAGCGAATAAACTGACAGCTTTGAGGAATGGTTCCTGGTGTCTGTTTGGGCCTATCCACAAAGCCCTCTTCAAGTGGAAGTGGGGAGGGAGGGTAGAAGGTGATGCCCAGAGGACTCGTGTCTGTCAGTGGAGAGCATGGGACCAGCGCTCCCAAGAAGTTCAGGAACTGCAGCCATGACCTCAGGGCCAGTCCTCCCACACTGCCCACAGAGCTGCCACAGACCAGTGTGAGGTGCTTACCCAGTGGGGCCCATTTGTGCCCCAGGGAGGAGCCAGACCCTCTTACCTGCCCCCTGCCAGTGCCTGAGAACTCACTGGGGCTGCTGTGATCACCATGTGCCTACCTTGCCCAGCAGTCCACGCTTTGCCATATCATGGCTCAGGGCCTCTGGGCCAAGGCCACACTAGATCCCACAAAGTCCACGGTGGTGGTGTCCCCATCTGCAACAGGGGAAACTGAGGACCCATGAACAGGCTTGCCCAAGCTGGGTATGGTGGCCTGCACCTATAATCCCGGCTAC
CCTTGATGTGGAACTTCCCTTATTCATAAAATGGGGGGCAGCTGCTCTTACCATCCCTCCTCCAGATGGGGAAACTGAGCCCAGGGAAGGGTAGCCCTGGCCCTGGCTCACCAGAATGGTCAGGCTGTGGGCTCCTGACCCCGACTCTGTCCTTCAGACTCGGGGGAGTCAGAGGCCGACCTGGAGTGCAGCTTCGCAGCCATCCACTCCCCAGCTCCGCCTCCTGACCCTGCCCCTCGGTTTGCCACGTCGCTGCCCCATTTCCCAGGTAAGCAGGGGCCAGACACGCAGGGGACTCGCTGCTCGGGCCTGGCTTAGGGCCAGTCACAATGTCTAAGCACAGGCCCTGCACTTGGAGCCCACTGAGCCTGGAAGACGGGGATCCCTGCTTCTCAGCCTGCGGGCAACAGGGCAGGGATGGGTGGGGCCCGCTTTCTCCATTTCAGGTGGCGTCTGCTGTGACTCATGGTGTTGGCTCCTCTTGTCCCTCCCCTCCTTCCCTGTCAGGATGCGCAGGTCCCACAGAAGATGAGCTGTCCCTGCCCGAGGGACCCAGCGTCCCCAGCAGCTCCCTACCCCAGACTCCGGAGCAGGAGAAGTTCCTCCGCCACCACTTTGAGACACTGACTGAGTCCCCCTGCAGAGGTAGGGCCCTGCCTCACCCACACCTGCCGAGGCCGTCTGTGCAGCCTGGGCACAGCATTGGCGTCCCTGGAGTTGGCTCCCCAGCAGGGCCAGGAGGGTGAGTGGAGAGCAACTGCTTCGTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCAGGCTGGAGTGCGGTGGCCCAATCTTGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATCCACAACCACGCCCTGCTAATTTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGACTGGTCTCAAACTCCTGCCTCAGATGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCACTGCTTCACTCTTGACCTGAGCCTCACGATGCCTCCTCACCCACTGCCCCTGCTCGTACCCTGTGTCTGTACATAAGGGTTTCTGGGGAGTGCCCCGCTGGGCTGTGGGCTGGCCTAGGGCCAGGGCTGCTCGGCGGGAAGGGTTATGAGGGTCCCCTCGGGATCTTCCCCTAGAGCTCTTCCCCGCAGCTCTGGGAGACGTGGAGGCCTCTGAAGCTGAAGACCACTTCTTCAACCCACGCCTGAGTATCTCCACGCAGTTCCTCTCAAGCCTCCAGAAGGCATCCAGGTAGAAGCTGGCCAAGCACTGCCCACCCTCTGGCTCCTCAACAGTGCCCCAGGGCAGGCTGAATGAGAATCATCCCCCCTGCTCTCCTCCCCACAGGTTCACCCATACCTTCCCTCCCCGGGCAACCCAGTGCCTTGTGAAGTCTCCAGAGGTCAAGCTCATGGACCGAGGCGGAAGCCAGCCCAGAGCAGGTACTGGCTACGCCTCCCCAGACAGGACCCACGTGAGTATTGGGCCCACCTCCGTCAGGGCACGGGGCTGGGAACCCTGAGGCCTTGTCCTCACCTCAGAGCTGTGCCTGCAGGTCCTCGCTGCAGGGAAGGCTGAAGAGACCCTGGAGGCCTGGCGCCCACCACGTGAGTGCCCCAGTCCCAGACGGACAGTCCTGGGTTTCTCGGCGAGTGGCCGGATGTCCAGCCTAGCTGTGGGGCGTGGGGGCCCTAGCCATCAGTTCTGTGTGGTGGAGTCAGTGCCATCTGCTTCCGTTACAGCTCCCTGCCTTACGAGCCTGGCGTCCTGTGTCCCTGCTTCCTCCGTGCTGCCCACAGACAGGAATCTCCCAACGCCCACATCTGCACCCACCCCAGGCCTGGCTCAGGGTGTCCATGCCCCCTCCACCTGTTCCTACATGGAGGCCACTGCCAGCTCCCGTGCCAGGATATCACGCAGCATCTCCCTCGGTGACAGTGAGGGCCCTATCGTGGCCAGCCCCTCCGTAGGCCATCGTCCGTTGGGGAGCTGGCCTCCTTGGGCCAGGAGCTTCAGGCCATCACCACCGCGACAACACCCAGTTTGGACAGTGAGGGCCAAGAGCCTGCCCTGCGTTCCTGGGGCAACCACGAGGCCCGGGCCAACCTGAGACTGACCCTGTCAAGTGCCTGTGATGGGCTCCTGCAGCCCCCCGTGGATACCCAGCCTGGCGTCACCGTCCCTGCAGTGAGCTTCCCAGCCCCTAGCCCTGTGGAAGAGAGCGCCCTGAGGCTCCACGGCTCTGCCTTTCGCCCAAGTCTCCCAGCTCCTGAGTCCCCTGGCCTTCCTGCCCACCCCAGTAACCCCCAGCTTCCAGAGGCCCGGCCTGGCATCCCTGGCGGCACTGCCTCCCTCCTGGAGCCCACCTCCGGTGAGTACAGCCCTGGAGCAAGGACTGTCCCCTAAGCTCATCCTGTGTGCTAGTTGGCTCAGCTCCAAAGATGGATACTTGACCTGGCCACAGGGACTGTGCCATTCATTCATTCGTGCATTAACTTAAATATTTAATGAGCATTACATGTTGGGCTTTGTGCTAAACCCTGGGACATGGGACATGGTGGTAAACAACACAGAGAACTGACAGCTTCAATGGGGACAATGCCCAGACTAAACCTTTAAGGAACCCGTCATATGTATCACGAAGTGACACATGCTTAGGAGGGACAGAGGAGGGCGAGGGAGTGCAGGGTGGGGACAGGGGTTGGGATTACAAACCAGAAGATAAGAAGAGGCTTCAGGGAGGAGGCTGCATTGGAGCAGAGACCTGTAGGAGTGAAGGGGAGGGAGCCTTGGGGACCCAGAGAAGTGTTCCAGACAGAAGTACAGCATGGAGTCCACCCAGTCGCTCTGGCCGCTCACACCAATGGAATGCAGCTCATCTTGCTCATTCCCTTCTCTCTACCCCAGGTGCACTTGGTCTGTTACAGGGCAGCCCTGCCCGCTGGAGTGAGCCCTGGGTGCCGGTTGAAGCCCTGCCCCCATCTCCCCTTGAGCTGAGCAGGGTGGGGAACATCTTGCACAGGCTGCAGACCACCTTCCAAGAAGCCCTCGACCTTTACCGTGTGGTGAGCTAAGCCCCAGAGTTGGGAAAGGGTTGAGGGGTCTCTTGAGACCGCCCGGCCTTGGTGGCCCCTGACAAGGCTGGCATCCCTTGCAGTTGGTCTCCAGTGGCCAGGTGGACACCGGGCAGCAGCAGGCACGGACTGAGCTGGTCTCCACCTTCCTGTGGATCCACAGCCAGCTGGAGGCTGAATGCCTGGTGGGGACTAGTGTGGCCCCAGCCCAGGCTCTGCCCAGCCCAGGACCCCCGTCCCCACCGACGCTGTACCCCCTGGCCAGCCCAGACCTGCAGGCCCTGCTGGAACACTACTCGGAGCTGCTGGTGCAGGCCGTGCGGAGGAAGGCACGGGGGCACTGAGGGCGCAGCCCCTCCACCGCAGCCCTGCTGCTTCTGAGGACTTAGGTATTTTAAGCGAATAAACTGACAGCTTTGAGGAATGGTTCCTGGTGTCTGTTTGGGCCTATCCACAAAGCCCTCTTCAAGTGGAAGTGGGGAGGGAGGGTAGAAGGTGATGCCCAGAGGACTCGTGTCTGTCAGTGGAGAGCATGGGACCAGCGCTCCCAAGAAGTTCAGGAACTGCAGCCATGACCTCAGGGCCAGTCCTCCCACACTGCCCACAGAGCTGCCACAGACCAGTGTGAGGTGCTTACCCAGTGGGGCCCATTTGTGCCCCAGGGAGGAGCCAGACCCTCTTACCTGCCCCCTGCCAGTGCCTGAGAACTCACTGGGGCTGCTGTGATCACCATGTGCCTACCTTGCCCAGCAGTCCACGCTTTGCCATATCATGGCTCAGGGCCTCTGGGCCAAGGCCACACTAGATCCCACAAAGTCCACGGTGGTGGTGTCCCCATCTGCAACAGGGGAAACTGAGGACCCATGAACAGGCTTGCCCAAGCTGGGTATGGTGGCCTGCACCTATAATCCCGGCTACNNNNNNNNNN
pathogenic
302,939
Classify the chromosome 19 variant at position 36104594 affecting gene WDR62 (WD repeat domain 62) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Microcephaly_2,_primary,_autosomal_recessive,_with_or_without_cortical_malformations']
CCACCGTGCCCGGCCCACTGCTTCACTCTTGACCTGAGCCTCACGATGCCTCCTCACCCACTGCCCCTGCTCGTACCCTGTGTCTGTACATAAGGGTTTCTGGGGAGTGCCCCGCTGGGCTGTGGGCTGGCCTAGGGCCAGGGCTGCTCGGCGGGAAGGGTTATGAGGGTCCCCTCGGGATCTTCCCCTAGAGCTCTTCCCCGCAGCTCTGGGAGACGTGGAGGCCTCTGAAGCTGAAGACCACTTCTTCAACCCACGCCTGAGTATCTCCACGCAGTTCCTCTCAAGCCTCCAGAAGGCATCCAGGTAGAAGCTGGCCAAGCACTGCCCACCCTCTGGCTCCTCAACAGTGCCCCAGGGCAGGCTGAATGAGAATCATCCCCCCTGCTCTCCTCCCCACAGGTTCACCCATACCTTCCCTCCCCGGGCAACCCAGTGCCTTGTGAAGTCTCCAGAGGTCAAGCTCATGGACCGAGGCGGAAGCCAGCCCAGAGCAGGTACTGGCTACGCCTCCCCAGACAGGACCCACGTGAGTATTGGGCCCACCTCCGTCAGGGCACGGGGCTGGGAACCCTGAGGCCTTGTCCTCACCTCAGAGCTGTGCCTGCAGGTCCTCGCTGCAGGGAAGGCTGAAGAGACCCTGGAGGCCTGGCGCCCACCACGTGAGTGCCCCAGTCCCAGACGGACAGTCCTGGGTTTCTCGGCGAGTGGCCGGATGTCCAGCCTAGCTGTGGGGCGTGGGGGCCCTAGCCATCAGTTCTGTGTGGTGGAGTCAGTGCCATCTGCTTCCGTTACAGCTCCCTGCCTTACGAGCCTGGCGTCCTGTGTCCCTGCTTCCTCCGTGCTGCCCACAGACAGGAATCTCCCAACGCCCACATCTGCACCCACCCCAGGCCTGGCTCAGGGTGTCCATGCCCCCTCCACCTGTTCCTACATGGAGGCCACTGCCAGCTCCCGTGCCAGGATATCACGCAGCATCTCCCTCGGTGACAGTGAGGGCCCTATCGTGGCCACACTGGCCCAGCCCCTCCGTAGGCCATCGTCCGTTGGGGAGCTGGCCTCCTTGGGCCAGGAGCTTCAGGCCATCACCACCGCGACAACACCCAGTTTGGACAGTGAGGGCCAAGAGCCTGCCCTGCGTTCCTGGGGCAACCACGAGGCCCGGGCCAACCTGAGACTGACCCTGTCAAGTGCCTGTGATGGGCTCCTGCAGCCCCCCGTGGATACCCAGCCTGGCGTCACCGTCCCTGCAGTGAGCTTCCCAGCCCCTAGCCCTGTGGAAGAGAGCGCCCTGAGGCTCCACGGCTCTGCCTTTCGCCCAAGTCTCCCAGCTCCTGAGTCCCCTGGCCTTCCTGCCCACCCCAGTAACCCCCAGCTTCCAGAGGCCCGGCCTGGCATCCCTGGCGGCACTGCCTCCCTCCTGGAGCCCACCTCCGGTGAGTACAGCCCTGGAGCAAGGACTGTCCCCTAAGCTCATCCTGTGTGCTAGTTGGCTCAGCTCCAAAGATGGATACTTGACCTGGCCACAGGGACTGTGCCATTCATTCATTCGTGCATTAACTTAAATATTTAATGAGCATTACATGTTGGGCTTTGTGCTAAACCCTGGGACATGGGACATGGTGGTAAACAACACAGAGAACTGACAGCTTCAATGGGGACAATGCCCAGACTAAACCTTTAAGGAACCCGTCATATGTATCACGAAGTGACACATGCTTAGGAGGGACAGAGGAGGGCGAGGGAGTGCAGGGTGGGGACAGGGGTTGGGATTACAAACCAGAAGATAAGAAGAGGCTTCAGGGAGGAGGCTGCATTGGAGCAGAGACCTGTAGGAGTGAAGGGGAGGGAGCCTTGGGGACCCAGAGAAGTGTTCCAGACAGAAGTACAGCATGGAGTCCACCCAGTCGCTCTGGCCGCTCACACCAATGGAATGCAGCTCATCTTGCTCATTCCCTTCTCTCTACCCCAGGTGCACTTGGTCTGTTACAGGGCAGCCCTGCCCGCTGGAGTGAGCCCTGGGTGCCGGTTGAAGCCCTGCCCCCATCTCCCCTTGAGCTGAGCAGGGTGGGGAACATCTTGCACAGGCTGCAGACCACCTTCCAAGAAGCCCTCGACCTTTACCGTGTGGTGAGCTAAGCCCCAGAGTTGGGAAAGGGTTGAGGGGTCTCTTGAGACCGCCCGGCCTTGGTGGCCCCTGACAAGGCTGGCATCCCTTGCAGTTGGTCTCCAGTGGCCAGGTGGACACCGGGCAGCAGCAGGCACGGACTGAGCTGGTCTCCACCTTCCTGTGGATCCACAGCCAGCTGGAGGCTGAATGCCTGGTGGGGACTAGTGTGGCCCCAGCCCAGGCTCTGCCCAGCCCAGGACCCCCGTCCCCACCGACGCTGTACCCCCTGGCCAGCCCAGACCTGCAGGCCCTGCTGGAACACTACTCGGAGCTGCTGGTGCAGGCCGTGCGGAGGAAGGCACGGGGGCACTGAGGGCGCAGCCCCTCCACCGCAGCCCTGCTGCTTCTGAGGACTTAGGTATTTTAAGCGAATAAACTGACAGCTTTGAGGAATGGTTCCTGGTGTCTGTTTGGGCCTATCCACAAAGCCCTCTTCAAGTGGAAGTGGGGAGGGAGGGTAGAAGGTGATGCCCAGAGGACTCGTGTCTGTCAGTGGAGAGCATGGGACCAGCGCTCCCAAGAAGTTCAGGAACTGCAGCCATGACCTCAGGGCCAGTCCTCCCACACTGCCCACAGAGCTGCCACAGACCAGTGTGAGGTGCTTACCCAGTGGGGCCCATTTGTGCCCCAGGGAGGAGCCAGACCCTCTTACCTGCCCCCTGCCAGTGCCTGAGAACTCACTGGGGCTGCTGTGATCACCATGTGCCTACCTTGCCCAGCAGTCCACGCTTTGCCATATCATGGCTCAGGGCCTCTGGGCCAAGGCCACACTAGATCCCACAAAGTCCACGGTGGTGGTGTCCCCATCTGCAACAGGGGAAACTGAGGACCCATGAACAGGCTTGCCCAAGCTGGGTATGGTGGCCTGCACCTATAATCCCGGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACTTGGTGAAACCCCATCTCTTTATTTCATGTATTTATTTATTTATTTTTGTTTTTGAGATGGAATCTTGCTGTGTCATCCAGGCTAGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACTCAGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTGGGAGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCAAAACCCCGTCTCTTTAAATAAAACAAAATAAAACAAGAAACCCAGGCAGGCTTGCCCACTGTATGATCCTGGCAGCAGGCCCAGGCCACGAGCAGCTGGGACCAATAACTGCTTCCCCTTCAGAAGTTCTACATTCCACGAGCTCCCAGCACTGCTACCAGCTCCCCCAGACAGCAGGCATCTGGCCACATGGGGTGTCTGCTAAAAAAGCCACTCTTGGCTGGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCGCTCAAACCCAGGAGGCAGAGGTTTCAGTGAGCTGAGATCACACCATCATTGTACTTCAGCCTGGGTGACACAGCAAGTCTCAAAAAAAAAAAAAAAAAAAATCCTGCCAGTTCCCACCCAGGTGCCGGGCACTGTAGCAGAAGGAACATCAGGCAACGCACCTGCCCTCATGGCCACTCACCTTCTATACAGTCAAACAGATGCAGGAATTAGAGCTCTGTATAATTCTAGATAGGTTGGGGAGATCCATTGCTGGTGAAGGGTCAGGGAAGGCCTTTCGAGGTGACATTTGGGCTGAAGCTTGATAGAGGACATCTCAGGAACACATCCAGGCCGACAGCACAGCCAGTGCACAGGCCT
CCACCGTGCCCGGCCCACTGCTTCACTCTTGACCTGAGCCTCACGATGCCTCCTCACCCACTGCCCCTGCTCGTACCCTGTGTCTGTACATAAGGGTTTCTGGGGAGTGCCCCGCTGGGCTGTGGGCTGGCCTAGGGCCAGGGCTGCTCGGCGGGAAGGGTTATGAGGGTCCCCTCGGGATCTTCCCCTAGAGCTCTTCCCCGCAGCTCTGGGAGACGTGGAGGCCTCTGAAGCTGAAGACCACTTCTTCAACCCACGCCTGAGTATCTCCACGCAGTTCCTCTCAAGCCTCCAGAAGGCATCCAGGTAGAAGCTGGCCAAGCACTGCCCACCCTCTGGCTCCTCAACAGTGCCCCAGGGCAGGCTGAATGAGAATCATCCCCCCTGCTCTCCTCCCCACAGGTTCACCCATACCTTCCCTCCCCGGGCAACCCAGTGCCTTGTGAAGTCTCCAGAGGTCAAGCTCATGGACCGAGGCGGAAGCCAGCCCAGAGCAGGTACTGGCTACGCCTCCCCAGACAGGACCCACGTGAGTATTGGGCCCACCTCCGTCAGGGCACGGGGCTGGGAACCCTGAGGCCTTGTCCTCACCTCAGAGCTGTGCCTGCAGGTCCTCGCTGCAGGGAAGGCTGAAGAGACCCTGGAGGCCTGGCGCCCACCACGTGAGTGCCCCAGTCCCAGACGGACAGTCCTGGGTTTCTCGGCGAGTGGCCGGATGTCCAGCCTAGCTGTGGGGCGTGGGGGCCCTAGCCATCAGTTCTGTGTGGTGGAGTCAGTGCCATCTGCTTCCGTTACAGCTCCCTGCCTTACGAGCCTGGCGTCCTGTGTCCCTGCTTCCTCCGTGCTGCCCACAGACAGGAATCTCCCAACGCCCACATCTGCACCCACCCCAGGCCTGGCTCAGGGTGTCCATGCCCCCTCCACCTGTTCCTACATGGAGGCCACTGCCAGCTCCCGTGCCAGGATATCACGCAGCATCTCCCTCGGTGACAGTGAGGGCCCTATCGTGGCCACACTGGCCCAGCCCCTCCGTAGGCCATCGTCCGTTGGGGAGCTGGCCTCCTTGGGCCAGGAGCTTCAGGCCATCACCACCGCGACAACACCCAGTTTGGACAGTGAGGGCCAAGAGCCTGCCCTGCGTTCCTGGGGCAACCACGAGGCCCGGGCCAACCTGAGACTGACCCTGTCAAGTGCCTGTGATGGGCTCCTGCAGCCCCCCGTGGATACCCAGCCTGGCGTCACCGTCCCTGCAGTGAGCTTCCCAGCCCCTAGCCCTGTGGAAGAGAGCGCCCTGAGGCTCCACGGCTCTGCCTTTCGCCCAAGTCTCCCAGCTCCTGAGTCCCCTGGCCTTCCTGCCCACCCCAGTAACCCCCAGCTTCCAGAGGCCCGGCCTGGCATCCCTGGCGGCACTGCCTCCCTCCTGGAGCCCACCTCCGGTGAGTACAGCCCTGGAGCAAGGACTGTCCCCTAAGCTCATCCTGTGTGCTAGTTGGCTCAGCTCCAAAGATGGATACTTGACCTGGCCACAGGGACTGTGCCATTCATTCATTCGTGCATTAACTTAAATATTTAATGAGCATTACATGTTGGGCTTTGTGCTAAACCCTGGGACATGGGACATGGTGGTAAACAACACAGAGAACTGACAGCTTCAATGGGGACAATGCCCAGACTAAACCTTTAAGGAACCCGTCATATGTATCACGAAGTGACACATGCTTAGGAGGGACAGAGGAGGGCGAGGGAGTGCAGGGTGGGGACAGGGGTTGGGATTACAAACCAGAAGATAAGAAGAGGCTTCAGGGAGGAGGCTGCATTGGAGCAGAGACCTGTAGGAGTGAAGGGGAGGGAGCCTTGGGGACCCAGAGAAGTGTTCCAGACAGAAGTACAGCATGGAGTCCACCCAGTCGCTCTGGCCGCTCACACCAATGGAATGCAGCTCATCTTGCTCATTCCCTTCTCTCTACCCCAGGTGCACTTGGTCTGTTACAGGGCAGCCCTGCCCGCTGGAGTGAGCCCTGGGTGCCGGTTGAAGCCCTGCCCCCATCTCCCCCTTGAGCTGAGCAGGGTGGGGAACATCTTGCACAGGCTGCAGACCACCTTCCAAGAAGCCCTCGACCTTTACCGTGTGGTGAGCTAAGCCCCAGAGTTGGGAAAGGGTTGAGGGGTCTCTTGAGACCGCCCGGCCTTGGTGGCCCCTGACAAGGCTGGCATCCCTTGCAGTTGGTCTCCAGTGGCCAGGTGGACACCGGGCAGCAGCAGGCACGGACTGAGCTGGTCTCCACCTTCCTGTGGATCCACAGCCAGCTGGAGGCTGAATGCCTGGTGGGGACTAGTGTGGCCCCAGCCCAGGCTCTGCCCAGCCCAGGACCCCCGTCCCCACCGACGCTGTACCCCCTGGCCAGCCCAGACCTGCAGGCCCTGCTGGAACACTACTCGGAGCTGCTGGTGCAGGCCGTGCGGAGGAAGGCACGGGGGCACTGAGGGCGCAGCCCCTCCACCGCAGCCCTGCTGCTTCTGAGGACTTAGGTATTTTAAGCGAATAAACTGACAGCTTTGAGGAATGGTTCCTGGTGTCTGTTTGGGCCTATCCACAAAGCCCTCTTCAAGTGGAAGTGGGGAGGGAGGGTAGAAGGTGATGCCCAGAGGACTCGTGTCTGTCAGTGGAGAGCATGGGACCAGCGCTCCCAAGAAGTTCAGGAACTGCAGCCATGACCTCAGGGCCAGTCCTCCCACACTGCCCACAGAGCTGCCACAGACCAGTGTGAGGTGCTTACCCAGTGGGGCCCATTTGTGCCCCAGGGAGGAGCCAGACCCTCTTACCTGCCCCCTGCCAGTGCCTGAGAACTCACTGGGGCTGCTGTGATCACCATGTGCCTACCTTGCCCAGCAGTCCACGCTTTGCCATATCATGGCTCAGGGCCTCTGGGCCAAGGCCACACTAGATCCCACAAAGTCCACGGTGGTGGTGTCCCCATCTGCAACAGGGGAAACTGAGGACCCATGAACAGGCTTGCCCAAGCTGGGTATGGTGGCCTGCACCTATAATCCCGGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGCAACTTGGTGAAACCCCATCTCTTTATTTCATGTATTTATTTATTTATTTTTGTTTTTGAGATGGAATCTTGCTGTGTCATCCAGGCTAGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACCATACTCAGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTTGGGAGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCAAAACCCCGTCTCTTTAAATAAAACAAAATAAAACAAGAAACCCAGGCAGGCTTGCCCACTGTATGATCCTGGCAGCAGGCCCAGGCCACGAGCAGCTGGGACCAATAACTGCTTCCCCTTCAGAAGTTCTACATTCCACGAGCTCCCAGCACTGCTACCAGCTCCCCCAGACAGCAGGCATCTGGCCACATGGGGTGTCTGCTAAAAAAGCCACTCTTGGCTGGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCGCTCAAACCCAGGAGGCAGAGGTTTCAGTGAGCTGAGATCACACCATCATTGTACTTCAGCCTGGGTGACACAGCAAGTCTCAAAAAAAAAAAAAAAAAAAATCCTGCCAGTTCCCACCCAGGTGCCGGGCACTGTAGCAGAAGGAACATCAGGCAACGCACCTGCCCTCATGGCCACTCACCTTCTATACAGTCAAACAGATGCAGGAATTAGAGCTCTGTATAATTCTAGATAGGTTGGGGAGATCCATTGCTGGTGAAGGGTCAGGGAAGGCCTTTCGAGGTGACATTTGGGCTGAAGCTTGATAGAGGACATCTCAGGAACACATCCAGGCCGACAGCACAGCCAGTGCACAGGCC
pathogenic
302,953
Evaluate if the mutation on chromosome 19 at position 37886743 in WDR87 (WD repeat domain 87) is benign or pathogenic. Disease name(s) if pathogenic?
benign
GCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGATTTGCTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCTGAGATCGTGTCATTGCACTCCAGCCTGGGCAATAAGAGTGAAACACCGTCTCAAAAAAAAAAAAAAGAGAGAGAGAGAGATGAAGGTCTAGATCCTGGTAATTAGGCCTTTCTCCAGTTGGCAATGAAAAGTCCCAGCCTCCAGTCAGTCCCAAATTAGAGAGTGGGAGCAACGGTGTGTGTCAGTGCCTTGGTGAGATGAAGATCAGCTTCAGGCAGGCTCTTCCAGGCAAGTTCTAAGATCCCATACCGGGCAATGCCCACGGGAAGGATGGTGCGCACACAGTTCTGCCATGGGAGGGGTACCGCACCCTGGAACTCCTGAGGACTTCTAGGAGTATGAGAACTGCCACAAAACAGGCAGCAGAACAGCCGTTCCCCGGGAACTAGCTCTGTGGCTTTTAGGGCCTCTTCGTAGATGATCTCTTGGGGTTGAGGTTCCTCTCTCATTAGCAGCTCCTGAAGCAGCTTCTGGATTCTGGGGGACTTAAGTTGGTACAGGTCCATGAGCTGGTAGAACTGTTCCATCCAAGCAGTGCTGTCTTTTGGATATCGCTGCTGCAGCATCCGCAAAACATGGTACAGTGCCACAAATGTCTCCCACAAAGGCAACTCTTCCTTTTTTTTAGAAATGGGCTGTGTCTTCTTCTCTAACTTGGGCAGTTTAGGAAACCTGCGTTTATCCTTAAAATCCCAGAAGTCCTTTTGAAACATCAGTGCCAGGGTTTGTTTTTCCACAGAGGCATGGGCACTTGGAAAAATGTCTCTGGTGGCAGGATAAAAGTATTGCATTTCCATCTCCTTGTGAGCAATGGATATCTGCTGTGCCCTCTCACTTCTGTAAGGTTCTCCTAGAAGATGCCAATTTTTAGCCCTTGGGTCTGGAATCCTCTTGGTAGCTAATGGGGACTTTTGTGTGGGGACAGCCAAAGGTTTTGGCCAGCTCTCCTTTTCCTTTGCTTTTATAGGAGGAATCACTTTCAGGTATTTTGGACTCATGGACTGTCTACTTGAGATCCTTGTGTCTTGTGACTCCAGGGCCTGTCTGTGACGGTACACAATGGCTTCATGTTTGGCCAGATGCAGCCATTCTAAGTTTCCCTTTGAGGCAAGGTCTTTGAGCAGCTGGCACAGTCTATGGAAACCATCCCTGGAAAGCTGTTCTCCCGCTTCCATTCGTTCTAGGACATGGCGGATCCACTCTACATCTGAGAGGCTTACGTCTGCATGTTGTTCCTTAGCTGGGATTTGGGAGAGAGGTAACTGTACCTCAGTCTGTCCCATCAGAGGTGGATGCTGCAAAAACCACTTCCACCAGGCACCTAGTGGTTTGTGTTGGAGTTCCTCAGCTTCCACGGTCCTCCTTAATATGTGGGACATAAATGGGGTCTTTAAGTCCTGTGCTTGGGACTCCAAAACTGTACCCAAAACATGTGGAGGTATGGGTTCATATTTTCCCATCACTTCTCTTTCTTTATCCATTGTCCCTAAGAATTTCCTGGGTATTTCAACTACTGTGGCCTTTTTATCTTCCCAGGATATTTGTTTCTCCGGCACTGGCACTGGTGTTTTCTCTTTCATCTCCAGAGCTGTTGACATCAGTTTCTTCAAAGGGCTTTTTAGAACTCCTAGTCTTATAGCCCTGCCTTTGCCATGAGGAACTCCTCTTAAAATGGAAAGGACTCTTTCCCTTCCTCTTAGGCTCTTTCTTCTTTGTTCTTGTAACTTAAATTGTTTTTCTTTTTTTAAGATCTCTTTTTCCCTGTCCACCTCTTCTTCCAATGAGCAGCTCTCCTCTTCCTCTTCCTCGTCACTCAAACTTTCTGTCTCTTCCTCACTCATAATTTCTTCTTTCTCCTCAAACACTTCTTCCTTCTCCTGAACCTCCTCCTTCTTCTTTTCCTTTTTCTTCTTCTTCTTCTCCTCCTCTTCTTTCTCCACTTGCTTCTCCTCCCCTTCCTCCTCCTCCTTCCTTTCCTCCTCCTCCTCCCTTTCCTCCTCCTCCTCCCTTTCCTCTTCTTCCTCCCTTTCCTCCTCCTCCTCAGAAGACAAACTCTCTTGCTTTTCTAGTTCATCTAACAGGCTTTCCATTTCTTCAGAAAAATGCTCTTCACTTTCCACTTCATCCACTTGACTGGAAAACTTTTCTTTTGGTTTGTCACCTCTCTTGGCCTCTTTCCTCTTTCTCCACCTTCGTTTAAGGAATGGGATTACCTCTTCTTCTTCTATTCCTCCTTCCTCTTCATCATCCAGTATGACTTCTGAATGCTTTCTGGCCAATTTGCTCTCTTCCTCAGTCATTTTTTCTTCTTTGTTTATCATTCTTCTCATTTTGTTGGCCAGTTTTCTCTGCTTCCGAGCCAGTTTCTTCTCATCTTTAGTCAGTTCTGATCGTTTTTCAGAAAAATCCCACTCTTTGATATCCAGCTTACTCTGTTCTATACTCAACCTGCGCTCCTTAACAAAGAGTGCCCTCTTCATCTTTGTCATTTTTATTTCTTCCTGTGTTAGTTTCCTTTCATCCCTGGTTAGTTTTTGAAGTGCCTTTAAGATTTTGTTCAGTTTTGCTGGTTCCTTGGAAAGGCTCTCCCTTTTTTTAATCAACTTCCTTGAAGCCTTGGCTAACTTTCTTTGCCCCTGGACAAATATTCTCTGTCCTCTAGTAAATTCCAGTTTTCCTTTGGCAATTTCGCTTTCCTCCATGGCCAATATCCTGTCTTCATGTAGCAGTATCTTCTCCTCTAGTGACAATTTTCTCTCAAATAGTTCTTGTTCAACTTGAGTCATTTTCCTTTGTCTAGAAGTTTCTGGAGTCTCTCCCTTAGACAGTGTTTCTTTTCCCTCAACCAGTCTCATCTTCTCCTCAGCCAGTCTTTTCATTTCCAGGTTCAATGCCTTTTCTTCCTTAGCAATATCCAACTCTCCTCTGAGCCGTTTCTTTCCTTGGACCATTGCCTTCTCCAGAGCTAATTTCATTTTTTCCTGGGCCAATTTCTCCTGTTTTTTGGCCAAACTATCCTCTACTTGGACCAATTTTTTCTCTGTTTCAGCCAGTTTCTCCTTCTTCTTGATCACAGTCTCCTTTTCCTGTGTCAGCTTCTCCTCTACCTGAGCCAGTATCTTGTTGAACATTCCCAATTTGTTCTTTACTTGCACTAATTGCTTTTTGCTGTGGGTGAGTCTTTCTTTATTATAGAGTAGGTTCTCTTTCCTCTGAGCCAATTTTTCCTTCTCCTGGGCCAGATTCTTCTTTTCCTGAGCCAGATTCTTCTTCTGGTACAGTATCATCTTGTTCTTTGTGAGTTCTTCCATGCTGTTGATCCATCTTTCCCTTTTTTGGGCCAGTTTCATCTTCTTCTCAATCAATTGCTCCCTTTTCCGTCCCAGTCTTTCCTCTTCCTCAGGCATTTTTTCCTTGTGCTGGGCCAGTTTCTCCTTTTCCTGGATCAGCAACTCTTCTTCCTGGGCCAGTTTTGTCTCTTCTTCAGACAGTTTCTCCCTTTGCCAGGCCAATGCCTCCTCTTCCTCAGCCAGTTTCTTCTTTTCCTCAACCAGTTTCCCCTCTTCCTGATTCAGTTCCTCTTCTTTCCAAGACAGTTCTTCCATGTCCCATTCCAGTTCCTCCAATTCCTGGGCCAGCTCCTTTTCTTGCCAGTCCAGATTTTGTTCCCTCTGGGGCAGTTCTTCCACTTTCTGGGCCAATATGTTTTTCACCTCAGCCAGTTTCCCTCCTTTCTTTGCTAGTTTCTCTTCTTCTCTAGCCACTTTCTCCCATTTCTTGGCCAGTTTCTTCCTTTTCTGGGCCAATTTCTCCGCCTCCTGGCTTAGCTTCTCCCCTCTTTGGGCCAGTGTTTCCTCTTTCTGGGCAAACTTACCCTCTGCCTGGGCCATTTCCCTGTCATCCTGGGTTATTTTCACGTATGCCTGGGCCAGTTTTCTCTCTTCCTGGGCCAACTGTCTCTCTTCTTGTGCAAGTTTCTCTTCTTCTTGTGCTAATTTCCTCTCTTCTTGGGCT
GCTCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGATTTGCTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCTGAGATCGTGTCATTGCACTCCAGCCTGGGCAATAAGAGTGAAACACCGTCTCAAAAAAAAAAAAAAGAGAGAGAGAGAGATGAAGGTCTAGATCCTGGTAATTAGGCCTTTCTCCAGTTGGCAATGAAAAGTCCCAGCCTCCAGTCAGTCCCAAATTAGAGAGTGGGAGCAACGGTGTGTGTCAGTGCCTTGGTGAGATGAAGATCAGCTTCAGGCAGGCTCTTCCAGGCAAGTTCTAAGATCCCATACCGGGCAATGCCCACGGGAAGGATGGTGCGCACACAGTTCTGCCATGGGAGGGGTACCGCACCCTGGAACTCCTGAGGACTTCTAGGAGTATGAGAACTGCCACAAAACAGGCAGCAGAACAGCCGTTCCCCGGGAACTAGCTCTGTGGCTTTTAGGGCCTCTTCGTAGATGATCTCTTGGGGTTGAGGTTCCTCTCTCATTAGCAGCTCCTGAAGCAGCTTCTGGATTCTGGGGGACTTAAGTTGGTACAGGTCCATGAGCTGGTAGAACTGTTCCATCCAAGCAGTGCTGTCTTTTGGATATCGCTGCTGCAGCATCCGCAAAACATGGTACAGTGCCACAAATGTCTCCCACAAAGGCAACTCTTCCTTTTTTTTAGAAATGGGCTGTGTCTTCTTCTCTAACTTGGGCAGTTTAGGAAACCTGCGTTTATCCTTAAAATCCCAGAAGTCCTTTTGAAACATCAGTGCCAGGGTTTGTTTTTCCACAGAGGCATGGGCACTTGGAAAAATGTCTCTGGTGGCAGGATAAAAGTATTGCATTTCCATCTCCTTGTGAGCAATGGATATCTGCTGTGCCCTCTCACTTCTGTAAGGTTCTCCTAGAAGATGCCAATTTTTAGCCCTTGGGTCTGGAATCCTCTTGGTAGCTAATGGGGACTTTTGTGTGGGGACAGCCAAAGGTTTTGGCCAGCTCTCCTTTTCCTTTGCTTTTATAGGAGGAATCACTTTCAGGTATTTTGGACTCATGGACTGTCTACTTGAGATCCTTGTGTCTTGTGACTCCAGGGCCTGTCTGTGACGGTACACAATGGCTTCATGTTTGGCCAGATGCAGCCATTCTAAGTTTCCCTTTGAGGCAAGGTCTTTGAGCAGCTGGCACAGTCTATGGAAACCATCCCTGGAAAGCTGTTCTCCCGCTTCCATTCGTTCTAGGACATGGCGGATCCACTCTACATCTGAGAGGCTTACGTCTGCATGTTGTTCCTTAGCTGGGATTTGGGAGAGAGGTAACTGTACCTCAGTCTGTCCCATCAGAGGTGGATGCTGCAAAAACCACTTCCACCAGGCACCTAGTGGTTTGTGTTGGAGTTCCTCAGCTTCCACGGTCCTCCTTAATATGTGGGACATAAATGGGGTCTTTAAGTCCTGTGCTTGGGACTCCAAAACTGTACCCAAAACATGTGGAGGTATGGGTTCATATTTTCCCATCACTTCTCTTTCTTTATCCATTGTCCCTAAGAATTTCCTGGGTATTTCAACTACTGTGGCCTTTTTATCTTCCCAGGATATTTGTTTCTCCGGCACTGGCACTGGTGTTTTCTCTTTCATCTCCAGAGCTGTTGACATCAGTTTCTTCAAAGGGCTTTTTAGAACTCCTAGTCTTATAGCCCTGCCTTTGCCATGAGGAACTCCTCTTAAAATGGAAAGGACTCTTTCCCTTCCTCTTAGGCTCTTTCTTCTTTGTTCTTGTAACTTAAATTGTTTTTCTTTTTTTAAGATCTCTTTTTCCCTGTCCACCTCTTCTTCCAATGAGCAGCTCTCCTCTTCCTCTTCCTCGTCACTCAAACTTTCTGTCTCTTCCTCACTCATAATTTCTTCTTTCTCCTCAAACACTTCTTCCTTCTCCTGAACCTCCTCCTTCTTCTTTTCCTTTTTCTTCTTCTTCTTCTCCTCCTCTTCTTTCTCCACTTGCTTCTCCTCCCCTTCCTCCTCCTCCCTTTCCTCCTCCTCCTCCCTTTCCTCCTCCTCCTCCCTTTCCTCTTCTTCCTCCCTTTCCTCCTCCTCCTCAGAAGACAAACTCTCTTGCTTTTCTAGTTCATCTAACAGGCTTTCCATTTCTTCAGAAAAATGCTCTTCACTTTCCACTTCATCCACTTGACTGGAAAACTTTTCTTTTGGTTTGTCACCTCTCTTGGCCTCTTTCCTCTTTCTCCACCTTCGTTTAAGGAATGGGATTACCTCTTCTTCTTCTATTCCTCCTTCCTCTTCATCATCCAGTATGACTTCTGAATGCTTTCTGGCCAATTTGCTCTCTTCCTCAGTCATTTTTTCTTCTTTGTTTATCATTCTTCTCATTTTGTTGGCCAGTTTTCTCTGCTTCCGAGCCAGTTTCTTCTCATCTTTAGTCAGTTCTGATCGTTTTTCAGAAAAATCCCACTCTTTGATATCCAGCTTACTCTGTTCTATACTCAACCTGCGCTCCTTAACAAAGAGTGCCCTCTTCATCTTTGTCATTTTTATTTCTTCCTGTGTTAGTTTCCTTTCATCCCTGGTTAGTTTTTGAAGTGCCTTTAAGATTTTGTTCAGTTTTGCTGGTTCCTTGGAAAGGCTCTCCCTTTTTTTAATCAACTTCCTTGAAGCCTTGGCTAACTTTCTTTGCCCCTGGACAAATATTCTCTGTCCTCTAGTAAATTCCAGTTTTCCTTTGGCAATTTCGCTTTCCTCCATGGCCAATATCCTGTCTTCATGTAGCAGTATCTTCTCCTCTAGTGACAATTTTCTCTCAAATAGTTCTTGTTCAACTTGAGTCATTTTCCTTTGTCTAGAAGTTTCTGGAGTCTCTCCCTTAGACAGTGTTTCTTTTCCCTCAACCAGTCTCATCTTCTCCTCAGCCAGTCTTTTCATTTCCAGGTTCAATGCCTTTTCTTCCTTAGCAATATCCAACTCTCCTCTGAGCCGTTTCTTTCCTTGGACCATTGCCTTCTCCAGAGCTAATTTCATTTTTTCCTGGGCCAATTTCTCCTGTTTTTTGGCCAAACTATCCTCTACTTGGACCAATTTTTTCTCTGTTTCAGCCAGTTTCTCCTTCTTCTTGATCACAGTCTCCTTTTCCTGTGTCAGCTTCTCCTCTACCTGAGCCAGTATCTTGTTGAACATTCCCAATTTGTTCTTTACTTGCACTAATTGCTTTTTGCTGTGGGTGAGTCTTTCTTTATTATAGAGTAGGTTCTCTTTCCTCTGAGCCAATTTTTCCTTCTCCTGGGCCAGATTCTTCTTTTCCTGAGCCAGATTCTTCTTCTGGTACAGTATCATCTTGTTCTTTGTGAGTTCTTCCATGCTGTTGATCCATCTTTCCCTTTTTTGGGCCAGTTTCATCTTCTTCTCAATCAATTGCTCCCTTTTCCGTCCCAGTCTTTCCTCTTCCTCAGGCATTTTTTCCTTGTGCTGGGCCAGTTTCTCCTTTTCCTGGATCAGCAACTCTTCTTCCTGGGCCAGTTTTGTCTCTTCTTCAGACAGTTTCTCCCTTTGCCAGGCCAATGCCTCCTCTTCCTCAGCCAGTTTCTTCTTTTCCTCAACCAGTTTCCCCTCTTCCTGATTCAGTTCCTCTTCTTTCCAAGACAGTTCTTCCATGTCCCATTCCAGTTCCTCCAATTCCTGGGCCAGCTCCTTTTCTTGCCAGTCCAGATTTTGTTCCCTCTGGGGCAGTTCTTCCACTTTCTGGGCCAATATGTTTTTCACCTCAGCCAGTTTCCCTCCTTTCTTTGCTAGTTTCTCTTCTTCTCTAGCCACTTTCTCCCATTTCTTGGCCAGTTTCTTCCTTTTCTGGGCCAATTTCTCCGCCTCCTGGCTTAGCTTCTCCCCTCTTTGGGCCAGTGTTTCCTCTTTCTGGGCAAACTTACCCTCTGCCTGGGCCATTTCCCTGTCATCCTGGGTTATTTTCACGTATGCCTGGGCCAGTTTTCTCTCTTCCTGGGCCAACTGTCTCTCTTCTTGTGCAAGTTTCTCTTCTTCTTGTGCTAATTTCCTCTCTTCTTGGGCTNNN
benign
302,982
A genetic variant at chromosome 19, position 37886746, affecting gene WDR87 (WD repeat domain 87)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
benign
CACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGATTTGCTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCTGAGATCGTGTCATTGCACTCCAGCCTGGGCAATAAGAGTGAAACACCGTCTCAAAAAAAAAAAAAAGAGAGAGAGAGAGATGAAGGTCTAGATCCTGGTAATTAGGCCTTTCTCCAGTTGGCAATGAAAAGTCCCAGCCTCCAGTCAGTCCCAAATTAGAGAGTGGGAGCAACGGTGTGTGTCAGTGCCTTGGTGAGATGAAGATCAGCTTCAGGCAGGCTCTTCCAGGCAAGTTCTAAGATCCCATACCGGGCAATGCCCACGGGAAGGATGGTGCGCACACAGTTCTGCCATGGGAGGGGTACCGCACCCTGGAACTCCTGAGGACTTCTAGGAGTATGAGAACTGCCACAAAACAGGCAGCAGAACAGCCGTTCCCCGGGAACTAGCTCTGTGGCTTTTAGGGCCTCTTCGTAGATGATCTCTTGGGGTTGAGGTTCCTCTCTCATTAGCAGCTCCTGAAGCAGCTTCTGGATTCTGGGGGACTTAAGTTGGTACAGGTCCATGAGCTGGTAGAACTGTTCCATCCAAGCAGTGCTGTCTTTTGGATATCGCTGCTGCAGCATCCGCAAAACATGGTACAGTGCCACAAATGTCTCCCACAAAGGCAACTCTTCCTTTTTTTTAGAAATGGGCTGTGTCTTCTTCTCTAACTTGGGCAGTTTAGGAAACCTGCGTTTATCCTTAAAATCCCAGAAGTCCTTTTGAAACATCAGTGCCAGGGTTTGTTTTTCCACAGAGGCATGGGCACTTGGAAAAATGTCTCTGGTGGCAGGATAAAAGTATTGCATTTCCATCTCCTTGTGAGCAATGGATATCTGCTGTGCCCTCTCACTTCTGTAAGGTTCTCCTAGAAGATGCCAATTTTTAGCCCTTGGGTCTGGAATCCTCTTGGTAGCTAATGGGGACTTTTGTGTGGGGACAGCCAAAGGTTTTGGCCAGCTCTCCTTTTCCTTTGCTTTTATAGGAGGAATCACTTTCAGGTATTTTGGACTCATGGACTGTCTACTTGAGATCCTTGTGTCTTGTGACTCCAGGGCCTGTCTGTGACGGTACACAATGGCTTCATGTTTGGCCAGATGCAGCCATTCTAAGTTTCCCTTTGAGGCAAGGTCTTTGAGCAGCTGGCACAGTCTATGGAAACCATCCCTGGAAAGCTGTTCTCCCGCTTCCATTCGTTCTAGGACATGGCGGATCCACTCTACATCTGAGAGGCTTACGTCTGCATGTTGTTCCTTAGCTGGGATTTGGGAGAGAGGTAACTGTACCTCAGTCTGTCCCATCAGAGGTGGATGCTGCAAAAACCACTTCCACCAGGCACCTAGTGGTTTGTGTTGGAGTTCCTCAGCTTCCACGGTCCTCCTTAATATGTGGGACATAAATGGGGTCTTTAAGTCCTGTGCTTGGGACTCCAAAACTGTACCCAAAACATGTGGAGGTATGGGTTCATATTTTCCCATCACTTCTCTTTCTTTATCCATTGTCCCTAAGAATTTCCTGGGTATTTCAACTACTGTGGCCTTTTTATCTTCCCAGGATATTTGTTTCTCCGGCACTGGCACTGGTGTTTTCTCTTTCATCTCCAGAGCTGTTGACATCAGTTTCTTCAAAGGGCTTTTTAGAACTCCTAGTCTTATAGCCCTGCCTTTGCCATGAGGAACTCCTCTTAAAATGGAAAGGACTCTTTCCCTTCCTCTTAGGCTCTTTCTTCTTTGTTCTTGTAACTTAAATTGTTTTTCTTTTTTTAAGATCTCTTTTTCCCTGTCCACCTCTTCTTCCAATGAGCAGCTCTCCTCTTCCTCTTCCTCGTCACTCAAACTTTCTGTCTCTTCCTCACTCATAATTTCTTCTTTCTCCTCAAACACTTCTTCCTTCTCCTGAACCTCCTCCTTCTTCTTTTCCTTTTTCTTCTTCTTCTTCTCCTCCTCTTCTTTCTCCACTTGCTTCTCCTCCCCTTCCTCCTCCTCCTTCCTTTCCTCCTCCTCCTCCCTTTCCTCCTCCTCCTCCCTTTCCTCTTCTTCCTCCCTTTCCTCCTCCTCCTCAGAAGACAAACTCTCTTGCTTTTCTAGTTCATCTAACAGGCTTTCCATTTCTTCAGAAAAATGCTCTTCACTTTCCACTTCATCCACTTGACTGGAAAACTTTTCTTTTGGTTTGTCACCTCTCTTGGCCTCTTTCCTCTTTCTCCACCTTCGTTTAAGGAATGGGATTACCTCTTCTTCTTCTATTCCTCCTTCCTCTTCATCATCCAGTATGACTTCTGAATGCTTTCTGGCCAATTTGCTCTCTTCCTCAGTCATTTTTTCTTCTTTGTTTATCATTCTTCTCATTTTGTTGGCCAGTTTTCTCTGCTTCCGAGCCAGTTTCTTCTCATCTTTAGTCAGTTCTGATCGTTTTTCAGAAAAATCCCACTCTTTGATATCCAGCTTACTCTGTTCTATACTCAACCTGCGCTCCTTAACAAAGAGTGCCCTCTTCATCTTTGTCATTTTTATTTCTTCCTGTGTTAGTTTCCTTTCATCCCTGGTTAGTTTTTGAAGTGCCTTTAAGATTTTGTTCAGTTTTGCTGGTTCCTTGGAAAGGCTCTCCCTTTTTTTAATCAACTTCCTTGAAGCCTTGGCTAACTTTCTTTGCCCCTGGACAAATATTCTCTGTCCTCTAGTAAATTCCAGTTTTCCTTTGGCAATTTCGCTTTCCTCCATGGCCAATATCCTGTCTTCATGTAGCAGTATCTTCTCCTCTAGTGACAATTTTCTCTCAAATAGTTCTTGTTCAACTTGAGTCATTTTCCTTTGTCTAGAAGTTTCTGGAGTCTCTCCCTTAGACAGTGTTTCTTTTCCCTCAACCAGTCTCATCTTCTCCTCAGCCAGTCTTTTCATTTCCAGGTTCAATGCCTTTTCTTCCTTAGCAATATCCAACTCTCCTCTGAGCCGTTTCTTTCCTTGGACCATTGCCTTCTCCAGAGCTAATTTCATTTTTTCCTGGGCCAATTTCTCCTGTTTTTTGGCCAAACTATCCTCTACTTGGACCAATTTTTTCTCTGTTTCAGCCAGTTTCTCCTTCTTCTTGATCACAGTCTCCTTTTCCTGTGTCAGCTTCTCCTCTACCTGAGCCAGTATCTTGTTGAACATTCCCAATTTGTTCTTTACTTGCACTAATTGCTTTTTGCTGTGGGTGAGTCTTTCTTTATTATAGAGTAGGTTCTCTTTCCTCTGAGCCAATTTTTCCTTCTCCTGGGCCAGATTCTTCTTTTCCTGAGCCAGATTCTTCTTCTGGTACAGTATCATCTTGTTCTTTGTGAGTTCTTCCATGCTGTTGATCCATCTTTCCCTTTTTTGGGCCAGTTTCATCTTCTTCTCAATCAATTGCTCCCTTTTCCGTCCCAGTCTTTCCTCTTCCTCAGGCATTTTTTCCTTGTGCTGGGCCAGTTTCTCCTTTTCCTGGATCAGCAACTCTTCTTCCTGGGCCAGTTTTGTCTCTTCTTCAGACAGTTTCTCCCTTTGCCAGGCCAATGCCTCCTCTTCCTCAGCCAGTTTCTTCTTTTCCTCAACCAGTTTCCCCTCTTCCTGATTCAGTTCCTCTTCTTTCCAAGACAGTTCTTCCATGTCCCATTCCAGTTCCTCCAATTCCTGGGCCAGCTCCTTTTCTTGCCAGTCCAGATTTTGTTCCCTCTGGGGCAGTTCTTCCACTTTCTGGGCCAATATGTTTTTCACCTCAGCCAGTTTCCCTCCTTTCTTTGCTAGTTTCTCTTCTTCTCTAGCCACTTTCTCCCATTTCTTGGCCAGTTTCTTCCTTTTCTGGGCCAATTTCTCCGCCTCCTGGCTTAGCTTCTCCCCTCTTTGGGCCAGTGTTTCCTCTTTCTGGGCAAACTTACCCTCTGCCTGGGCCATTTCCCTGTCATCCTGGGTTATTTTCACGTATGCCTGGGCCAGTTTTCTCTCTTCCTGGGCCAACTGTCTCTCTTCTTGTGCAAGTTTCTCTTCTTCTTGTGCTAATTTCCTCTCTTCTTGGGCTCGT
CACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGATTTGCTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCTGAGATCGTGTCATTGCACTCCAGCCTGGGCAATAAGAGTGAAACACCGTCTCAAAAAAAAAAAAAAGAGAGAGAGAGAGATGAAGGTCTAGATCCTGGTAATTAGGCCTTTCTCCAGTTGGCAATGAAAAGTCCCAGCCTCCAGTCAGTCCCAAATTAGAGAGTGGGAGCAACGGTGTGTGTCAGTGCCTTGGTGAGATGAAGATCAGCTTCAGGCAGGCTCTTCCAGGCAAGTTCTAAGATCCCATACCGGGCAATGCCCACGGGAAGGATGGTGCGCACACAGTTCTGCCATGGGAGGGGTACCGCACCCTGGAACTCCTGAGGACTTCTAGGAGTATGAGAACTGCCACAAAACAGGCAGCAGAACAGCCGTTCCCCGGGAACTAGCTCTGTGGCTTTTAGGGCCTCTTCGTAGATGATCTCTTGGGGTTGAGGTTCCTCTCTCATTAGCAGCTCCTGAAGCAGCTTCTGGATTCTGGGGGACTTAAGTTGGTACAGGTCCATGAGCTGGTAGAACTGTTCCATCCAAGCAGTGCTGTCTTTTGGATATCGCTGCTGCAGCATCCGCAAAACATGGTACAGTGCCACAAATGTCTCCCACAAAGGCAACTCTTCCTTTTTTTTAGAAATGGGCTGTGTCTTCTTCTCTAACTTGGGCAGTTTAGGAAACCTGCGTTTATCCTTAAAATCCCAGAAGTCCTTTTGAAACATCAGTGCCAGGGTTTGTTTTTCCACAGAGGCATGGGCACTTGGAAAAATGTCTCTGGTGGCAGGATAAAAGTATTGCATTTCCATCTCCTTGTGAGCAATGGATATCTGCTGTGCCCTCTCACTTCTGTAAGGTTCTCCTAGAAGATGCCAATTTTTAGCCCTTGGGTCTGGAATCCTCTTGGTAGCTAATGGGGACTTTTGTGTGGGGACAGCCAAAGGTTTTGGCCAGCTCTCCTTTTCCTTTGCTTTTATAGGAGGAATCACTTTCAGGTATTTTGGACTCATGGACTGTCTACTTGAGATCCTTGTGTCTTGTGACTCCAGGGCCTGTCTGTGACGGTACACAATGGCTTCATGTTTGGCCAGATGCAGCCATTCTAAGTTTCCCTTTGAGGCAAGGTCTTTGAGCAGCTGGCACAGTCTATGGAAACCATCCCTGGAAAGCTGTTCTCCCGCTTCCATTCGTTCTAGGACATGGCGGATCCACTCTACATCTGAGAGGCTTACGTCTGCATGTTGTTCCTTAGCTGGGATTTGGGAGAGAGGTAACTGTACCTCAGTCTGTCCCATCAGAGGTGGATGCTGCAAAAACCACTTCCACCAGGCACCTAGTGGTTTGTGTTGGAGTTCCTCAGCTTCCACGGTCCTCCTTAATATGTGGGACATAAATGGGGTCTTTAAGTCCTGTGCTTGGGACTCCAAAACTGTACCCAAAACATGTGGAGGTATGGGTTCATATTTTCCCATCACTTCTCTTTCTTTATCCATTGTCCCTAAGAATTTCCTGGGTATTTCAACTACTGTGGCCTTTTTATCTTCCCAGGATATTTGTTTCTCCGGCACTGGCACTGGTGTTTTCTCTTTCATCTCCAGAGCTGTTGACATCAGTTTCTTCAAAGGGCTTTTTAGAACTCCTAGTCTTATAGCCCTGCCTTTGCCATGAGGAACTCCTCTTAAAATGGAAAGGACTCTTTCCCTTCCTCTTAGGCTCTTTCTTCTTTGTTCTTGTAACTTAAATTGTTTTTCTTTTTTTAAGATCTCTTTTTCCCTGTCCACCTCTTCTTCCAATGAGCAGCTCTCCTCTTCCTCTTCCTCGTCACTCAAACTTTCTGTCTCTTCCTCACTCATAATTTCTTCTTTCTCCTCAAACACTTCTTCCTTCTCCTGAACCTCCTCCTTCTTCTTTTCCTTTTTCTTCTTCTTCTTCTCCTCCTCTTCTTTCTCCACTTGCTTCTCCTCCCCTTCCTCCTCCTCCTTCCTTTCCTCCTCCTCCTCCCTTTCCTCTTCTTCCTCCCTTTCCTCCTCCTCCTCAGAAGACAAACTCTCTTGCTTTTCTAGTTCATCTAACAGGCTTTCCATTTCTTCAGAAAAATGCTCTTCACTTTCCACTTCATCCACTTGACTGGAAAACTTTTCTTTTGGTTTGTCACCTCTCTTGGCCTCTTTCCTCTTTCTCCACCTTCGTTTAAGGAATGGGATTACCTCTTCTTCTTCTATTCCTCCTTCCTCTTCATCATCCAGTATGACTTCTGAATGCTTTCTGGCCAATTTGCTCTCTTCCTCAGTCATTTTTTCTTCTTTGTTTATCATTCTTCTCATTTTGTTGGCCAGTTTTCTCTGCTTCCGAGCCAGTTTCTTCTCATCTTTAGTCAGTTCTGATCGTTTTTCAGAAAAATCCCACTCTTTGATATCCAGCTTACTCTGTTCTATACTCAACCTGCGCTCCTTAACAAAGAGTGCCCTCTTCATCTTTGTCATTTTTATTTCTTCCTGTGTTAGTTTCCTTTCATCCCTGGTTAGTTTTTGAAGTGCCTTTAAGATTTTGTTCAGTTTTGCTGGTTCCTTGGAAAGGCTCTCCCTTTTTTTAATCAACTTCCTTGAAGCCTTGGCTAACTTTCTTTGCCCCTGGACAAATATTCTCTGTCCTCTAGTAAATTCCAGTTTTCCTTTGGCAATTTCGCTTTCCTCCATGGCCAATATCCTGTCTTCATGTAGCAGTATCTTCTCCTCTAGTGACAATTTTCTCTCAAATAGTTCTTGTTCAACTTGAGTCATTTTCCTTTGTCTAGAAGTTTCTGGAGTCTCTCCCTTAGACAGTGTTTCTTTTCCCTCAACCAGTCTCATCTTCTCCTCAGCCAGTCTTTTCATTTCCAGGTTCAATGCCTTTTCTTCCTTAGCAATATCCAACTCTCCTCTGAGCCGTTTCTTTCCTTGGACCATTGCCTTCTCCAGAGCTAATTTCATTTTTTCCTGGGCCAATTTCTCCTGTTTTTTGGCCAAACTATCCTCTACTTGGACCAATTTTTTCTCTGTTTCAGCCAGTTTCTCCTTCTTCTTGATCACAGTCTCCTTTTCCTGTGTCAGCTTCTCCTCTACCTGAGCCAGTATCTTGTTGAACATTCCCAATTTGTTCTTTACTTGCACTAATTGCTTTTTGCTGTGGGTGAGTCTTTCTTTATTATAGAGTAGGTTCTCTTTCCTCTGAGCCAATTTTTCCTTCTCCTGGGCCAGATTCTTCTTTTCCTGAGCCAGATTCTTCTTCTGGTACAGTATCATCTTGTTCTTTGTGAGTTCTTCCATGCTGTTGATCCATCTTTCCCTTTTTTGGGCCAGTTTCATCTTCTTCTCAATCAATTGCTCCCTTTTCCGTCCCAGTCTTTCCTCTTCCTCAGGCATTTTTTCCTTGTGCTGGGCCAGTTTCTCCTTTTCCTGGATCAGCAACTCTTCTTCCTGGGCCAGTTTTGTCTCTTCTTCAGACAGTTTCTCCCTTTGCCAGGCCAATGCCTCCTCTTCCTCAGCCAGTTTCTTCTTTTCCTCAACCAGTTTCCCCTCTTCCTGATTCAGTTCCTCTTCTTTCCAAGACAGTTCTTCCATGTCCCATTCCAGTTCCTCCAATTCCTGGGCCAGCTCCTTTTCTTGCCAGTCCAGATTTTGTTCCCTCTGGGGCAGTTCTTCCACTTTCTGGGCCAATATGTTTTTCACCTCAGCCAGTTTCCCTCCTTTCTTTGCTAGTTTCTCTTCTTCTCTAGCCACTTTCTCCCATTTCTTGGCCAGTTTCTTCCTTTTCTGGGCCAATTTCTCCGCCTCCTGGCTTAGCTTCTCCCCTCTTTGGGCCAGTGTTTCCTCTTTCTGGGCAAACTTACCCTCTGCCTGGGCCATTTCCCTGTCATCCTGGGTTATTTTCACGTATGCCTGGGCCAGTTTTCTCTCTTCCTGGGCCAACTGTCTCTCTTCTTGTGCAAGTTTCTCTTCTTCTTGTGCTAATTTCCTCTCTTCTTGGGCTCGTNNNNNNNNNNNNNNNNNN
benign
302,983
A mutation at chromosome position 38081727 on chromosome 19 in gene SIPA1L3 (signal induced proliferation associated 1 like 3): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
benign
CTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAGCTGCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGACTGCAGGTGTGAGCCACCGTGCCCAGCCGGAAGTCCCCATGGAAGAACTGACATCATGGGAAGGAACCAGCCCCAAGAAGGACTGAGGAAGGATATCAGATGTCCTGGATAAGGTTTGGTGCATCAGAACAGAAAAGAAGGCCAGTATGATCAGAGCTTAGTCAGGGATGGGGAGAGACATGGAAGCCAGATCCTGCGGGGCTTGTGGAGCAGGGGAAGGAGTTTGGATGGTGTTTTAATGCAGTAAGTAGTCACTGGGGAGATCTCAGTGAAAAAGTGATGGGCTCTGATTTACCCAGTCATAGTCTGCAGTAACCACATGGATTTCTAGAGACATTCCTTCTGCAGCTTTCCTCCCCAAACTCCACTGGTGCTCATGTTGACTCATCTGTCATTTTCACTTCCTTTCTGGCAGAGTAGCTGAGCTGAGCAAACAACAGAGCAGGTGGACAATAGTCTGGCCTCTGCATGAAGCCACCAGTTCACAGGAAATACAGGGGGCAGAGGAACATGTTAAGTGGCACCTCAGGGATCCTGAAAGTGGGGAAATCCACAGGACAGGTGACCCCTTTCCTTCAACAAGTAAAGAGCATCAAAATAAAGGAAGGTGGCCATTGTAGAGTAGAGGAGACTTGAGAAAATACCTGCATAAGCAGAGGATGATTTCGAACAAACCAGCTCACAAAAGACACCTGCGAGACAATGATGGGAAATGTAATGCAGGCAGGGTAGTGCATGACATTAAAGAATTCTTGTTAATGTAGATGAGTATGATAATGTTACTGTGATTTTTTTTTTTAAATCTTATGTACTAGAGATACAAGCTAAAATATTTATGGGTGAAATGACCTGATGTCTGGCCAGGTATGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGGGATTGCCTGAGGCCAGGAGTTTGAGACCAGTTTGGCCAATATGACAAAACCCCGTCTCTACTAAAAATAAGAAAAATTAGCCGGGCATGGTAGCACATGCTGGAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCATTCGAACCTTCGAGGTGGATGTTGCAATGAGCCAAGCACATGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAATGATGTCTGGGGTTTACTCTAAAACATTCTATCAGAAACAAAGAAGGTCACAAGGCTGGGTGAATAGATGAAATGGGAATGGAAAATAGTTAGTGGTTGTTGGAGCTGATGGGTGACTCAGTCTCCTCTCTGCTTTTGAGTATGTTTGCAAATTTCCATAATAAAAAGATTTTTTAAATGAGTAAGGCTGTCAAGAAAAGTCACATGTCCCACTTTCTGGGAGCAGTAACACGGCCATCGCAGCTCATATTTTCCTTTTCTTCCATTTCAGCATGGCGAGGACAACATCCTTGCTGCCTCCAGCTGGCGGGCGACCACAGCTACTGCCTGCTCTGCGCTACTGAGCCACTCGGTCTGGAGCCCCCAGGACAGCACCTGCTTCCTGAGGTTGTCCTGGCTCAGCTGTGCACAGCGATGGTGGAGAACTGGACTCCACAGGCTCACAACCTTCCTGTCAGGTTTCAGGGCCCAGCATCCTTCATCCTGGGCCTGGCTGCCCTGAACAATGGCTGAGGGCTGGGGGACCCCATAGAGTGACACCACAGCGTACGGGGCCAGCAGCACTCCAGTGCCCGTGGACTATGACCACCTATCGGGCCATCCCCAGCGATGGTGTGGACCTGGCAGCCAGCTGTGGCGCCAGGGTGGGCGATGTCCTCCCTGGGCCACACACAGGGGACTACGCTCCCTTGGGATTCTGGGCCCAGAATGGCAGCATGTCCCAGCCTCTTGGCGAGAGCCCGGCCACCGCCACCGCCACCGCCACCGCCACCACCCGCCCCAGCCCCACCACTCCCGCAATGCCCAAGATGGGCGTGCGCGCAAGGGTGGCCGACTGGCCGCCCAAGCGGGAGGCCCTGAGAGAGCACAGCAACCCAAGCCCCTCCCAGGACACAGATGGCACAAAGGCCACCAAGATGGCCCATTCCATGAGGAGCATACAGAACGGACAGCCCCCCACCAGCACCCCGGCTTCCTCAGGGTCCAAAGCCTTCCACCGACTCTCCAGGAGAAGGTCCAAAGACGTGGAGTTCCAGGACGGGTGGCCCCGGTCCCCCGGCAGGGCCTTCCTCCCCCTTCGGCACCGCAGCAGCAGCGAGATCACCCTCAGCGAGTGTGACGCGGAGGACGCGGGGGAGCCGCGGGGGGCCCGGCACACGGGGGCGCTGCCCCTCTTCCGCGAGTACGGGAGCACCTCGTCCATCGACGTGCAGGGCATGCCCGAGCAGAGCTTCTTCGACATCCTGAACGAGTTCCGCAGCGAGCAGCCCGACGCCCGAGGGTGCCAGGCCCTCACCGAGCTCCTCCGGGCAGATCCTGGCCCACACCTCATGGGGGGCGGCGGCGGAGCCAAGGGGGACTCCCACAACGGGCAGCCCGCCAAGGACAGCCTCCTGCCACTGCAGCCCACGAAGGAGAAGGAGAAGGCCCGGAAGAAACCTGCGCGGGGCCTCGGCGGCGGGGACACGGTGGACTCGTCCATCTTTCGGAAGCTAAGGAGCAGCAAACCCGAGGGGGAGGCTGGGCGTTCCCCGGGGGAGGCCGACGAGGGCCGGAGCCCCCCGGAAGCCAGCAGGCCGTGGGTGTGTCAGAAGAGCTTCGCCCACTTCGACGTGCAGAGCATGCTGTTCGACCTCAACGAGGCGGCCGCCAACAGGGTGTCGGTGTCGCAGCGGCGGAACACCACCACGGGTGCTTCGGCCGCTTCCGCCGCCTCGGCCATGGCCTCCCTCACGGCCTCGCGGGCCCACAGCCTCGGAGGCCTGGACCCGGCCTTCACCAGCACAGAGGACCTAAACTGCAAGGAGAACTTGGAGCAGGACCTCGGCGATGACAACAGCAACGACCTGCTGCTCAGCTGCCCGCACTTCCGCAATGAGATCGGGGGCGAGTGTGAGCGCAACGTGAGCTTCTCCCGGGCTTCCGTGGGCTCCCCGAGCAGCGGCGAGGGCCACCTGGCAGAGCCCGCCCTGAGCGCCTACCGCACCAACGCCAGCATCTCGGTGTTGGAAGTTCCCAAGGAGCAGCAGCGGACGCAGAGTCGGCCCCGGCAGTACAGCATCGAGCATGTGGACCTGGGCGCCCGCTACTACCAGGATTACTTCGTGGGCAAAGGTGACGGATGGCGTGTGGGTGGGAAGGTTGGGTGGGCCGAGGCTTGCCTCCGAGACCCCCACTACTCATTCATTCACTCTGTGCCAGGCCCTGCTCTGGCACTGAGGATGTGGCGGGAACAGAGACCTCCCTTCTGGAGGGCTGTGAGGATCCGGTGAGCAGAGCCACCCGGGCCTCAGCCCTGTGTCTGACACAGCAGCACTCCATAAACCTTGAGCTACAGGACACAGCTCTGCATTTACTCAGCACATATGGACTTGGGGACAGCTCAGTGCCAGGCACTCTCTAGAGCCTGGGGATGTAGTATCAACCAGCTTAAAACAAATGTTCTGTCTTCCTAGTACTTATAATGTTTTCATGGGTAACACAAACATAGAACAGGATAAATACGAAAAATACACAAGGGATTGTAGGCTGCTAAATGCAGTGGAAAAGAGTACAGCAGGGAAGAAGGAAATGGAGTGTCGGAGGGTGGGGGCAGATCCCAGTGGGGGATGGTCAGAGGGGGCCTCCGAGGCAGGTGCAGTTTGAGTACCAAGCTGAAGTCACCATGTGCAAATTGCAGACACTGTTCCCAGAACAGAGCAGCGAATACAAAAGTCTTGGAACTGCCCGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTT
CTGAGTAGCTGGGACTACAGGCACATGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAGCTGCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGACTGCAGGTGTGAGCCACCGTGCCCAGCCGGAAGTCCCCATGGAAGAACTGACATCATGGGAAGGAACCAGCCCCAAGAAGGACTGAGGAAGGATATCAGATGTCCTGGATAAGGTTTGGTGCATCAGAACAGAAAAGAAGGCCAGTATGATCAGAGCTTAGTCAGGGATGGGGAGAGACATGGAAGCCAGATCCTGCGGGGCTTGTGGAGCAGGGGAAGGAGTTTGGATGGTGTTTTAATGCAGTAAGTAGTCACTGGGGAGATCTCAGTGAAAAAGTGATGGGCTCTGATTTACCCAGTCATAGTCTGCAGTAACCACATGGATTTCTAGAGACATTCCTTCTGCAGCTTTCCTCCCCAAACTCCACTGGTGCTCATGTTGACTCATCTGTCATTTTCACTTCCTTTCTGGCAGAGTAGCTGAGCTGAGCAAACAACAGAGCAGGTGGACAATAGTCTGGCCTCTGCATGAAGCCACCAGTTCACAGGAAATACAGGGGGCAGAGGAACATGTTAAGTGGCACCTCAGGGATCCTGAAAGTGGGGAAATCCACAGGACAGGTGACCCCTTTCCTTCAACAAGTAAAGAGCATCAAAATAAAGGAAGGTGGCCATTGTAGAGTAGAGGAGACTTGAGAAAATACCTGCATAAGCAGAGGATGATTTCGAACAAACCAGCTCACAAAAGACACCTGCGAGACAATGATGGGAAATGTAATGCAGGCAGGGTAGTGCATGACATTAAAGAATTCTTGTTAATGTAGATGAGTATGATAATGTTACTGTGATTTTTTTTTTTAAATCTTATGTACTAGAGATACAAGCTAAAATATTTATGGGTGAAATGACCTGATGTCTGGCCAGGTATGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGGGATTGCCTGAGGCCAGGAGTTTGAGACCAGTTTGGCCAATATGACAAAACCCCGTCTCTACTAAAAATAAGAAAAATTAGCCGGGCATGGTAGCACATGCTGGAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCATTCGAACCTTCGAGGTGGATGTTGCAATGAGCCAAGCACATGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAATGATGTCTGGGGTTTACTCTAAAACATTCTATCAGAAACAAAGAAGGTCACAAGGCTGGGTGAATAGATGAAATGGGAATGGAAAATAGTTAGTGGTTGTTGGAGCTGATGGGTGACTCAGTCTCCTCTCTGCTTTTGAGTATGTTTGCAAATTTCCATAATAAAAAGATTTTTTAAATGAGTAAGGCTGTCAAGAAAAGTCACATGTCCCACTTTCTGGGAGCAGTAACACGGCCATCGCAGCTCATATTTTCCTTTTCTTCCATTTCAGCATGGCGAGGACAACATCCTTGCTGCCTCCAGCTGGCGGGCGACCACAGCTACTGCCTGCTCTGCGCTACTGAGCCACTCGGTCTGGAGCCCCCAGGACAGCACCTGCTTCCTGAGGTTGTCCTGGCTCAGCTGTGCACAGCGATGGTGGAGAACTGGACTCCACAGGCTCACAACCTTCCTGTCAGGTTTCAGGGCCCAGCATCCTTCATCCTGGGCCTGGCTGCCCTGAACAATGGCTGAGGGCTGGGGGACCCCATAGAGTGACACCACAGCGTACGGGGCCAGCAGCACTCCAGTGCCCGTGGACTATGACCACCTATCGGGCCATCCCCAGCGATGGTGTGGACCTGGCAGCCAGCTGTGGCGCCAGGGTGGGCGATGTCCTCCCTGGGCCACACACAGGGGACTACGCTCCCTTGGGATTCTGGGCCCAGAATGGCAGCATGTCCCAGCCTCTTGGCGAGAGCCCGGCCACCGCCACCGCCACCGCCACCGCCACCGCCACCACCCGCCCCAGCCCCACCACTCCCGCAATGCCCAAGATGGGCGTGCGCGCAAGGGTGGCCGACTGGCCGCCCAAGCGGGAGGCCCTGAGAGAGCACAGCAACCCAAGCCCCTCCCAGGACACAGATGGCACAAAGGCCACCAAGATGGCCCATTCCATGAGGAGCATACAGAACGGACAGCCCCCCACCAGCACCCCGGCTTCCTCAGGGTCCAAAGCCTTCCACCGACTCTCCAGGAGAAGGTCCAAAGACGTGGAGTTCCAGGACGGGTGGCCCCGGTCCCCCGGCAGGGCCTTCCTCCCCCTTCGGCACCGCAGCAGCAGCGAGATCACCCTCAGCGAGTGTGACGCGGAGGACGCGGGGGAGCCGCGGGGGGCCCGGCACACGGGGGCGCTGCCCCTCTTCCGCGAGTACGGGAGCACCTCGTCCATCGACGTGCAGGGCATGCCCGAGCAGAGCTTCTTCGACATCCTGAACGAGTTCCGCAGCGAGCAGCCCGACGCCCGAGGGTGCCAGGCCCTCACCGAGCTCCTCCGGGCAGATCCTGGCCCACACCTCATGGGGGGCGGCGGCGGAGCCAAGGGGGACTCCCACAACGGGCAGCCCGCCAAGGACAGCCTCCTGCCACTGCAGCCCACGAAGGAGAAGGAGAAGGCCCGGAAGAAACCTGCGCGGGGCCTCGGCGGCGGGGACACGGTGGACTCGTCCATCTTTCGGAAGCTAAGGAGCAGCAAACCCGAGGGGGAGGCTGGGCGTTCCCCGGGGGAGGCCGACGAGGGCCGGAGCCCCCCGGAAGCCAGCAGGCCGTGGGTGTGTCAGAAGAGCTTCGCCCACTTCGACGTGCAGAGCATGCTGTTCGACCTCAACGAGGCGGCCGCCAACAGGGTGTCGGTGTCGCAGCGGCGGAACACCACCACGGGTGCTTCGGCCGCTTCCGCCGCCTCGGCCATGGCCTCCCTCACGGCCTCGCGGGCCCACAGCCTCGGAGGCCTGGACCCGGCCTTCACCAGCACAGAGGACCTAAACTGCAAGGAGAACTTGGAGCAGGACCTCGGCGATGACAACAGCAACGACCTGCTGCTCAGCTGCCCGCACTTCCGCAATGAGATCGGGGGCGAGTGTGAGCGCAACGTGAGCTTCTCCCGGGCTTCCGTGGGCTCCCCGAGCAGCGGCGAGGGCCACCTGGCAGAGCCCGCCCTGAGCGCCTACCGCACCAACGCCAGCATCTCGGTGTTGGAAGTTCCCAAGGAGCAGCAGCGGACGCAGAGTCGGCCCCGGCAGTACAGCATCGAGCATGTGGACCTGGGCGCCCGCTACTACCAGGATTACTTCGTGGGCAAAGGTGACGGATGGCGTGTGGGTGGGAAGGTTGGGTGGGCCGAGGCTTGCCTCCGAGACCCCCACTACTCATTCATTCACTCTGTGCCAGGCCCTGCTCTGGCACTGAGGATGTGGCGGGAACAGAGACCTCCCTTCTGGAGGGCTGTGAGGATCCGGTGAGCAGAGCCACCCGGGCCTCAGCCCTGTGTCTGACACAGCAGCACTCCATAAACCTTGAGCTACAGGACACAGCTCTGCATTTACTCAGCACATATGGACTTGGGGACAGCTCAGTGCCAGGCACTCTCTAGAGCCTGGGGATGTAGTATCAACCAGCTTAAAACAAATGTTCTGTCTTCCTAGTACTTATAATGTTTTCATGGGTAACACAAACATAGAACAGGATAAATACGAAAAATACACAAGGGATTGTAGGCTGCTAAATGCAGTGGAAAAGAGTACAGCAGGGAAGAAGGAAATGGAGTGTCGGAGGGTGGGGGCAGATCCCAGTGGGGGATGGTCAGAGGGGGCCTCCGAGGCAGGTGCAGTTTGAGTACCAAGCTGAAGTCACCATGTGCAAATTGCAGACACTGTTCCCAGAACAGAGCAGCGAATACAAAAGTCTTGGAACTGCCCGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGA
benign
303,027
The genetic variant at chromosome 19, position 38442354, affecting gene RYR1 (ryanodine receptor 1): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Congenital_multicore_myopathy_with_external_ophthalmoplegia', 'RYR1-related_disorder']
AAATGGGATGATTACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACATGGCGAAACCTTGTCTCTACTAAAAATATAAAAATTAGCCAGGTGTGGTGGTGCACGCTTGTAATTTCAGCTATTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGCTGCAGTGGGCTGAGATTGCACCACTGTGCTCCAGCCTGGGCAACAGAGACTATTTCAAATAAATAAATAATAAAAAATAAAATAAATGGGATGATGCTGGCTTGTATCTCAAGGAGTTGTCAGGAGCAGGTAGAGGGCTTGGGTGGGTTGATCTTGTCAGTCACTGTCTTTTTCATAAGGACCAGGGTGGGAGGAGGGGCCTGTGGTCTGCAGTATTTGTGGTATCCGGGCCAGGCCCCCCTGGAGACGCTGCCCCTCGGTTCCGCAGGACGATGAGGTGGTCCTGCAGTGCAGCGCTACCGTGCTCAAGGAGCAGCTCAAGCTCTGCCTGGCCGCCGAGGGCTTCGGCAACCGCCTGTGCTTCCTGGAGCCCACTAGCAACGCGCAGGTCTGTGCAGGAGGGAGAGGGGCCTGGGGACAGGGGCGTCTGAAGGGGCAGAGAATCTTGGGTCCAAAGAAGAGGGTTCTGGGAGTCTGAAAGGAGGTGCTGACAGGAGAGAAAGTGAGGAGGGGGGCTAAGGCTAAGAGGGGCTACCTGAGGTGGGGAGGGGTGGAGGTCTGAGAAGGGAGGGGCAGGGGGTCTGGGGTGTTGGAGGGAATCCCTGTGTGCACAGAAGTGTGGTAGGCCAGGGCGGGGGCTGCTGATCCAGAACGTTCCTTGGCAGGTGGCTGAGTGGGCAGAAAGCCTCGGGTTTAAGGGGAGGTAGCCTGAGAGTCCAGAAGAAGGGCTGGTTGGGGAACGGGTCTCAGGAGGGAGGAGCAGGGAAACTGAGGGACGGCTGGGGCGTGGGGAGGGGGGGTAGGGAGGGACGAGGCAAAGGACCTGGAGCACAAGGAGGAGGGGTTTTATTTTTTATTTTTAAAAGTTTTTCAGGTAACAAGACTGAATTATTATGGGGTGTTTTAGGGGGAAGGAGGCCCTCGGCGGGGGCGGGGGAGGATGGGACAGGGCCTGAGATGCGGAGGGCATCTGATGGGGGTGGGGGCTTGAGGGTCTTAGGTAGTGGAGTCTGAGGGAAGGTGATCCCCAAGTCCGAGCTCGGGAATTCTGAGGGTGGGGGCAGCTGGAGTCTGAGAGGGCAGGGGATCGAGGGGCCGAGGGCCTTGGATCCAAGGCAAAGGGGCCTGGAGGGTCAGGGGACACCCGCAGGGGCCTGACTTGGGAGACTGGGGGCTGAGAGGTGGAAGGAGCCTGGGGTCTGAAAGGAGGAGACCTGGAGGAGGGGCAGGGGCTGGCAGACCAGGGGATGTGGAATCTGATGGGGGGGAAGTTTCAGAGTCTGAGCGAGTGGGGTCTGAGGAGCAGAGTCTTGAGTTTAGGAGTTGGACGGTGGGAGACTGAGGAGGGAGTATAAGGTTGAGCGCCCTCCTGTGTCTGTGAAGCAGAGGTCAGAGGTGTTTGAAGGAAAAGGCAGGAGCGAGGACTGTGTGATGGTGGAGGCAGGAGGTGGGGCTTCCTTTGGGGTTGGAGGGATGTGGGGTCATCTGCAGAGGAGGACACAGAACAGGAGATTCCTGTCCTTGGAGCAGGGTCAGTGTGTCTCAGGGGAGAGGCATGGGGGTGAGGCTTCCTATGAGATTAGGTGGAACACGGGTTAGTGGGGAGGGTTAGGGTTAGGGAAGTTTCTATGGAGTCTGGGTGGGTCTGAGGTGTTTGAGGGAGGAGGCACAGAAGAGGTGTTTTCGTGATGTTGGTCTAGATTCAGTGTGTCTGAGGGGGATGGCAGAGGGCAGGGCCTTCCTGTGGGGTGGGGGTGGGGTCTGGCGTCTCAAGAGTGTGGGCATCCAGACTAGGGGAGGGAGTGTGGCAGGGAATGTTGCTGGGGTGGGGGGGTCTTCTGACCCCTCACTTACATCCCCCTCCCACCCCAGAATGTGCCCCCCGATCTGGCCATCTGTTGCTTCGTCCTGGAGCAGTCCCTGTCTGTGCGAGCCCTGCAGGAGATGCTGGCTAACACGGTGGAGGCTGGCGTGGAGGTGAGGACCCCACCTGGGGGTGGGCGGGGTGGCAGAGATGGGCGAGAGGACCCAGGGGTCGTTTAGGGCACGGTGGCAAGGATGGGTGAGAGGACCCGGGGGTCGCTTACCATCTGCTCTTCTTCCTCTCTCTGCCCTGCCCCCCACAGGCCCTCAATTTGGATAAGTGGGTAGGTCCGGCCTTGGATGTCACCTGTCCTTCCACCCCTCCTGACCCCAGGCAGGCCCGTCTCTCAGGCCCACGCCCTGCACACAGGGGCTGGAGGGTCCTCCCCCACCCCAGTTGTCAGGGGCTGTGGAGCCCAGAACAGGCCAGGCAGGAAGGAAGGAAGGGGATGGGGGCTTCTGAGCCCCTGTCCCCGACGCCTGCTCCTTTCTCCTCTTTCCAGTCCTTTCCCCCAACCCTGATCCCAGCTCCTCTCCGCATGGGACCTCTCCCACCTCCCCCATCCCAAGCGTGAGTCCCTCTGGTCCAGGAGTGGGTCCACCATGTGATCACCTGGCCCCATCACATGGTACCCCCATGGCGCCCTTGGAGCATGGGCATGTGACAGCCATGATGGGAGGCATGGTGACATCGAGCAGTCAGATGTCTGCCCCAAGGTCCGGGTTGGGGACCTTGTGCTGGGGAGGGGCGGCTGTCTTAGACTGCGGGTGACATTCACCTATGGAACAACTGCTAGGCCTGTCCCAGAGCACACGGGCTGCAGCGCAGCATGATGGGGGAGGTCAGAGCAGAGGGGCCAGAGTACACGGAACACGAGATCTTGGGGGTGTCCTCAGGGTCCCCAGGAAACTAGAAGACGGGTTCATTCTCCTGAGTGATTTCCAGCCAAGGTGAAGGCAGCAGAGAGGACAGAGTGGGCTTTGGGGAATATAAAATGCTCCATCCATAGGCATCTCAGAGATATAGTCCCTGCTTCCGTGAATGGGGAAACTGAGGCAGAGAGTCCTGCAGGAGTCTGAGCTGAGGCTGTTTTACCTCTAGGCCTGAGCATGGTATTTTACAGGGAGCATCTTGTCACCTGTGACTAGGCCAGACCTCTTGGGGATCTGGAGAGTCCGGGGATCTGTGCTTATTCTGTTCCCTCCCTCCCCCTGCAGTCATCCCAGGGCGGGGGACACAGGACGCTCCTGTATGGCCATGCCATCCTGCTCCGGCATGCACACAGCCGCATGGTGAGTGCAACCTCGGTGGGCGTGGGCAGGGGCCAGGGCATGTGGGGCCTGCTAGAAGGAGGCTGACCTCCCTCTACAACCCTAGTATCTGAGCTGCCTCACCACCTCCCGCTCCATGACTGACAAGCTGGCCTTCGATGTGGGACTGCAGGAGGACGCAACAGGTGCAGCAGCTGGAGGGGATGGGGGTGTGAAGGGGCCCCGCAGCAGGGATTCAGGGGGTAGAAGGTCTGCAGAACGCCAAGGCAAGCATGAGACTACCCTGGGGACATGAATGGGGGCTTCGTAGCAGAGAGTCTGCGGTACAGTCCAGACAGGGAGACAGACACACGTTGGGGACCACTAGGCAGAGAGTCTGAAGTCAGGAACGGGGAACTGTTAGGCAGAGAGTTGGTGGCAGTGATAGGAGAGTTGTGGGCCAAGGGCCCGGGAGGCCTGGTGGAGGGAGAGCCCTGGGGAAGAGCATTCTGGGAAGCCATCATCTGACAGCCACCCCCATTCCATCCCCACCCATAGGAGAGGCTTGCTGGTGGACCATGCACCCAGCCTCCAAGCAGAGGTCTGAAGGAGAAAAGGTCCGCGTTGGGGATGACATCATCCTTGTCAGTGTCTCCTCCGAGCGCTACCTGGTGAGCCATTGCGGTTCCTCCTGCTCCCAGGTCTGGGGGCGCATGGGATGGTCCCCATCTTCTCACCATGGGTTTGCCTGGCTGATCTCCCACCCCCAAGGTCCTGACTCCCAATTTCCCATTTCCTGACCCCTGACATC
AAATGGGATGATTACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACATGGCGAAACCTTGTCTCTACTAAAAATATAAAAATTAGCCAGGTGTGGTGGTGCACGCTTGTAATTTCAGCTATTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGCTGCAGTGGGCTGAGATTGCACCACTGTGCTCCAGCCTGGGCAACAGAGACTATTTCAAATAAATAAATAATAAAAAATAAAATAAATGGGATGATGCTGGCTTGTATCTCAAGGAGTTGTCAGGAGCAGGTAGAGGGCTTGGGTGGGTTGATCTTGTCAGTCACTGTCTTTTTCATAAGGACCAGGGTGGGAGGAGGGGCCTGTGGTCTGCAGTATTTGTGGTATCCGGGCCAGGCCCCCCTGGAGACGCTGCCCCTCGGTTCCGCAGGACGATGAGGTGGTCCTGCAGTGCAGCGCTACCGTGCTCAAGGAGCAGCTCAAGCTCTGCCTGGCCGCCGAGGGCTTCGGCAACCGCCTGTGCTTCCTGGAGCCCACTAGCAACGCGCAGGTCTGTGCAGGAGGGAGAGGGGCCTGGGGACAGGGGCGTCTGAAGGGGCAGAGAATCTTGGGTCCAAAGAAGAGGGTTCTGGGAGTCTGAAAGGAGGTGCTGACAGGAGAGAAAGTGAGGAGGGGGGCTAAGGCTAAGAGGGGCTACCTGAGGTGGGGAGGGGTGGAGGTCTGAGAAGGGAGGGGCAGGGGGTCTGGGGTGTTGGAGGGAATCCCTGTGTGCACAGAAGTGTGGTAGGCCAGGGCGGGGGCTGCTGATCCAGAACGTTCCTTGGCAGGTGGCTGAGTGGGCAGAAAGCCTCGGGTTTAAGGGGAGGTAGCCTGAGAGTCCAGAAGAAGGGCTGGTTGGGGAACGGGTCTCAGGAGGGAGGAGCAGGGAAACTGAGGGACGGCTGGGGCGTGGGGAGGGGGGGTAGGGAGGGACGAGGCAAAGGACCTGGAGCACAAGGAGGAGGGGTTTTATTTTTTATTTTTAAAAGTTTTTCAGGTAACAAGACTGAATTATTATGGGGTGTTTTAGGGGGAAGGAGGCCCTCGGCGGGGGCGGGGGAGGATGGGACAGGGCCTGAGATGCGGAGGGCATCTGATGGGGGTGGGGGCTTGAGGGTCTTAGGTAGTGGAGTCTGAGGGAAGGTGATCCCCAAGTCCGAGCTCGGGAATTCTGAGGGTGGGGGCAGCTGGAGTCTGAGAGGGCAGGGGATCGAGGGGCCGAGGGCCTTGGATCCAAGGCAAAGGGGCCTGGAGGGTCAGGGGACACCCGCAGGGGCCTGACTTGGGAGACTGGGGGCTGAGAGGTGGAAGGAGCCTGGGGTCTGAAAGGAGGAGACCTGGAGGAGGGGCAGGGGCTGGCAGACCAGGGGATGTGGAATCTGATGGGGGGGAAGTTTCAGAGTCTGAGCGAGTGGGGTCTGAGGAGCAGAGTCTTGAGTTTAGGAGTTGGACGGTGGGAGACTGAGGAGGGAGTATAAGGTTGAGCGCCCTCCTGTGTCTGTGAAGCAGAGGTCAGAGGTGTTTGAAGGAAAAGGCAGGAGCGAGGACTGTGTGATGGTGGAGGCAGGAGGTGGGGCTTCCTTTGGGGTTGGAGGGATGTGGGGTCATCTGCAGAGGAGGACACAGAACAGGAGATTCCTGTCCTTGGAGCAGGGTCAGTGTGTCTCAGGGGAGAGGCATGGGGGTGAGGCTTCCTATGAGATTAGGTGGAACACGGGTTAGTGGGGAGGGTTAGGGTTAGGGAAGTTTCTATGGAGTCTGGGTGGGTCTGAGGTGTTTGAGGGAGGAGGCACAGAAGAGGTGTTTTCGTGATGTTGGTCTAGATTCAGTGTGTCTGAGGGGGATGGCAGAGGGCAGGGCCTTCCTGTGGGGTGGGGGTGGGGTCTGGCGTCTCAAGAGTGTGGGCATCCAGACTAGGGGAGGGAGTGTGGCAGGGAATGTTGCTGGGGTGGGGGGGTCTTCTGACCCCTCACTTACATCCCCCTCCCACCCCAGAATGTGCCCCCCCGATCTGGCCATCTGTTGCTTCGTCCTGGAGCAGTCCCTGTCTGTGCGAGCCCTGCAGGAGATGCTGGCTAACACGGTGGAGGCTGGCGTGGAGGTGAGGACCCCACCTGGGGGTGGGCGGGGTGGCAGAGATGGGCGAGAGGACCCAGGGGTCGTTTAGGGCACGGTGGCAAGGATGGGTGAGAGGACCCGGGGGTCGCTTACCATCTGCTCTTCTTCCTCTCTCTGCCCTGCCCCCCACAGGCCCTCAATTTGGATAAGTGGGTAGGTCCGGCCTTGGATGTCACCTGTCCTTCCACCCCTCCTGACCCCAGGCAGGCCCGTCTCTCAGGCCCACGCCCTGCACACAGGGGCTGGAGGGTCCTCCCCCACCCCAGTTGTCAGGGGCTGTGGAGCCCAGAACAGGCCAGGCAGGAAGGAAGGAAGGGGATGGGGGCTTCTGAGCCCCTGTCCCCGACGCCTGCTCCTTTCTCCTCTTTCCAGTCCTTTCCCCCAACCCTGATCCCAGCTCCTCTCCGCATGGGACCTCTCCCACCTCCCCCATCCCAAGCGTGAGTCCCTCTGGTCCAGGAGTGGGTCCACCATGTGATCACCTGGCCCCATCACATGGTACCCCCATGGCGCCCTTGGAGCATGGGCATGTGACAGCCATGATGGGAGGCATGGTGACATCGAGCAGTCAGATGTCTGCCCCAAGGTCCGGGTTGGGGACCTTGTGCTGGGGAGGGGCGGCTGTCTTAGACTGCGGGTGACATTCACCTATGGAACAACTGCTAGGCCTGTCCCAGAGCACACGGGCTGCAGCGCAGCATGATGGGGGAGGTCAGAGCAGAGGGGCCAGAGTACACGGAACACGAGATCTTGGGGGTGTCCTCAGGGTCCCCAGGAAACTAGAAGACGGGTTCATTCTCCTGAGTGATTTCCAGCCAAGGTGAAGGCAGCAGAGAGGACAGAGTGGGCTTTGGGGAATATAAAATGCTCCATCCATAGGCATCTCAGAGATATAGTCCCTGCTTCCGTGAATGGGGAAACTGAGGCAGAGAGTCCTGCAGGAGTCTGAGCTGAGGCTGTTTTACCTCTAGGCCTGAGCATGGTATTTTACAGGGAGCATCTTGTCACCTGTGACTAGGCCAGACCTCTTGGGGATCTGGAGAGTCCGGGGATCTGTGCTTATTCTGTTCCCTCCCTCCCCCTGCAGTCATCCCAGGGCGGGGGACACAGGACGCTCCTGTATGGCCATGCCATCCTGCTCCGGCATGCACACAGCCGCATGGTGAGTGCAACCTCGGTGGGCGTGGGCAGGGGCCAGGGCATGTGGGGCCTGCTAGAAGGAGGCTGACCTCCCTCTACAACCCTAGTATCTGAGCTGCCTCACCACCTCCCGCTCCATGACTGACAAGCTGGCCTTCGATGTGGGACTGCAGGAGGACGCAACAGGTGCAGCAGCTGGAGGGGATGGGGGTGTGAAGGGGCCCCGCAGCAGGGATTCAGGGGGTAGAAGGTCTGCAGAACGCCAAGGCAAGCATGAGACTACCCTGGGGACATGAATGGGGGCTTCGTAGCAGAGAGTCTGCGGTACAGTCCAGACAGGGAGACAGACACACGTTGGGGACCACTAGGCAGAGAGTCTGAAGTCAGGAACGGGGAACTGTTAGGCAGAGAGTTGGTGGCAGTGATAGGAGAGTTGTGGGCCAAGGGCCCGGGAGGCCTGGTGGAGGGAGAGCCCTGGGGAAGAGCATTCTGGGAAGCCATCATCTGACAGCCACCCCCATTCCATCCCCACCCATAGGAGAGGCTTGCTGGTGGACCATGCACCCAGCCTCCAAGCAGAGGTCTGAAGGAGAAAAGGTCCGCGTTGGGGATGACATCATCCTTGTCAGTGTCTCCTCCGAGCGCTACCTGGTGAGCCATTGCGGTTCCTCCTGCTCCCAGGTCTGGGGGCGCATGGGATGGTCCCCATCTTCTCACCATGGGTTTGCCTGGCTGATCTCCCACCCCCAAGGTCCTGACTCCCAATTTCCCATTTCCTGACCCCTGACAT
pathogenic
303,142
Variant in gene RYR1 (ryanodine receptor 1), located at chromosome 19 position 38444710: benign or pathogenic? What disease(s) does it cause if pathogenic?
benign
TCCTGACCCCAGGCAGGCCCGTCTCTCAGGCCCACGCCCTGCACACAGGGGCTGGAGGGTCCTCCCCCACCCCAGTTGTCAGGGGCTGTGGAGCCCAGAACAGGCCAGGCAGGAAGGAAGGAAGGGGATGGGGGCTTCTGAGCCCCTGTCCCCGACGCCTGCTCCTTTCTCCTCTTTCCAGTCCTTTCCCCCAACCCTGATCCCAGCTCCTCTCCGCATGGGACCTCTCCCACCTCCCCCATCCCAAGCGTGAGTCCCTCTGGTCCAGGAGTGGGTCCACCATGTGATCACCTGGCCCCATCACATGGTACCCCCATGGCGCCCTTGGAGCATGGGCATGTGACAGCCATGATGGGAGGCATGGTGACATCGAGCAGTCAGATGTCTGCCCCAAGGTCCGGGTTGGGGACCTTGTGCTGGGGAGGGGCGGCTGTCTTAGACTGCGGGTGACATTCACCTATGGAACAACTGCTAGGCCTGTCCCAGAGCACACGGGCTGCAGCGCAGCATGATGGGGGAGGTCAGAGCAGAGGGGCCAGAGTACACGGAACACGAGATCTTGGGGGTGTCCTCAGGGTCCCCAGGAAACTAGAAGACGGGTTCATTCTCCTGAGTGATTTCCAGCCAAGGTGAAGGCAGCAGAGAGGACAGAGTGGGCTTTGGGGAATATAAAATGCTCCATCCATAGGCATCTCAGAGATATAGTCCCTGCTTCCGTGAATGGGGAAACTGAGGCAGAGAGTCCTGCAGGAGTCTGAGCTGAGGCTGTTTTACCTCTAGGCCTGAGCATGGTATTTTACAGGGAGCATCTTGTCACCTGTGACTAGGCCAGACCTCTTGGGGATCTGGAGAGTCCGGGGATCTGTGCTTATTCTGTTCCCTCCCTCCCCCTGCAGTCATCCCAGGGCGGGGGACACAGGACGCTCCTGTATGGCCATGCCATCCTGCTCCGGCATGCACACAGCCGCATGGTGAGTGCAACCTCGGTGGGCGTGGGCAGGGGCCAGGGCATGTGGGGCCTGCTAGAAGGAGGCTGACCTCCCTCTACAACCCTAGTATCTGAGCTGCCTCACCACCTCCCGCTCCATGACTGACAAGCTGGCCTTCGATGTGGGACTGCAGGAGGACGCAACAGGTGCAGCAGCTGGAGGGGATGGGGGTGTGAAGGGGCCCCGCAGCAGGGATTCAGGGGGTAGAAGGTCTGCAGAACGCCAAGGCAAGCATGAGACTACCCTGGGGACATGAATGGGGGCTTCGTAGCAGAGAGTCTGCGGTACAGTCCAGACAGGGAGACAGACACACGTTGGGGACCACTAGGCAGAGAGTCTGAAGTCAGGAACGGGGAACTGTTAGGCAGAGAGTTGGTGGCAGTGATAGGAGAGTTGTGGGCCAAGGGCCCGGGAGGCCTGGTGGAGGGAGAGCCCTGGGGAAGAGCATTCTGGGAAGCCATCATCTGACAGCCACCCCCATTCCATCCCCACCCATAGGAGAGGCTTGCTGGTGGACCATGCACCCAGCCTCCAAGCAGAGGTCTGAAGGAGAAAAGGTCCGCGTTGGGGATGACATCATCCTTGTCAGTGTCTCCTCCGAGCGCTACCTGGTGAGCCATTGCGGTTCCTCCTGCTCCCAGGTCTGGGGGCGCATGGGATGGTCCCCATCTTCTCACCATGGGTTTGCCTGGCTGATCTCCCACCCCCAAGGTCCTGACTCCCAATTTCCCATTTCCTGACCCCTGACATCCAATTTTCTGATTTCTGACCTCCCATTGCCCGACTTGATCATTTCCTGATCTGTGATCTCTGATGACTCTGTCTCCCATCTGCCGGTTTCCGGGTATCCACCCTTGATTTCTGGCCTCTGACGCTGGGACTCTCGCCCACCCCTGCAATCGTCTCTGACTGCCGCATCCTGGTGGCCCCCAGCACCTGTCGACCGCCAGTGGGGAGCTCCAGGTTGACGCTTCCTTCATGCAGACACTATGGAACATGAACCCCATCTGCTCCCGCTGCGAAGAGGGTGAGGGCCCCAGACCTCCCCCTAAATGGAGATCCCCCCAAAACAGACCCTTAATGTTGCCCTTCAGGCATACCCAAATGGAGCCTTGGAACCTCAGACCTCAAACCTAGATCTCCAAATTATGGCTCTCACACTTAGATCTCCAGCTGACCCCAAATCCAGACCCCCAGAGCTCAGAACCCCCCCAAACCCCGAACTAAATATCAGGCTCCCAAACTTAGACCCCAAAGTATTAGCCCCCAAGGCTCCTAAACTCAGATTCAAATCTTAAAACATCAAGTTTAAAGCTTGTTTAAAGGCCGGGCATGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTTTATTAAAAATGCAAAATTATCTGAGTGTGGTGGCATGTGCCTGTAATCCCACCTACTCAGGAGGGTGAGGCAGGAGAATTGCTTGAACCTGGGTGGCAGAGGAGCCTGGGTGACAGAGCCAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATTAAACTCCTTAGACAATAAGCATAGACTATGATCTCAGCCCCTCAAACCCAGACCCCCAAATTCAAACCTCAGATCCCCAAACCAAGACTCCAATCTTCAGCCCTCCAACCTCAGACTTCCAAACTTCAATTTCAAATCCCAAAAACCAAAATCCACCAAAGCAAACTCCCAATTCAGATTCCCATGCTAAGACTCCAGGCATGGCCCAATACTTTGACCCCAAGTCTCATACCCCAAACTTCAGAGTCCTAAACCAGACCCACGCTGGGACTCAAACCACAGATGGTTTTTGACCCTCAAACTCAGACCCTGAAACTCAGACTCATCAACTTCTAACTACAAAGCTCAGATCGTTCCTACGTCATACCCCAAAGCTCAGACTTCCAAACCCTAGATTGTAACCTCAGATCCCCAACCTCACTTTCCAGCTTCTGGCCTCCAAAATCAATACTCAAGGCCAAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGGGGCCAAGGCGGGTGGATCACTTGAGATCAGGAGTTCGAGACCAGCCTGGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTGGCTGGGCATGATGGCGGGCGGCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGTATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTGCAGCCTGGGCAACAGAGCAAAACTCTGTCTTAAAAACAAAACTAAACAAAACGAAACAAAAAAACCCTCAAAATTCAGGCCCTAACTCCAGAACCCAGCCTCAGACCCAACCATCACCCTTCTAAACCCAGAGGCCAAACCTCAACCCTAGAACTCAGACTCCAACACCAGTGAACATTAGACCTCCACCTTTCACCACACACACACTCTGACCCCAACCTCAAAAGTCCAAACTCAGAACCTTAAATGACAGACTCACAACTCCCCCAGCCTCAGCTCTGCAGACCCAGACCCCCCAAATTAGGTGCCCAGCTTCAGACCCCAAGTCTCATATCCCCACTTCAGGCCTCAACCTTGGCCTGAAAATACCCTGAAACTCAGACCTCCAACTGCAAAACCCCAAACTCAGCCCTCAGGTTCCCCCAGGGGAGGAGCAGGGCCCCTGACTTCATCTTGGCTCCTGGTCTTCCTGGGGCTCCAGCCTCCCATTGACCAACTTCCCTTGCTCCTCTCCAGGCTTCGTGACGGGAGGTCACGTCCTCCGCCTCTTTCATGGACATATGGATGAGTGTCTGACCATTTCCCCTGCTGACAGTGATGACCAGCGCAGGTCTGGGCTGTGGACGAGAGGGCCTGGGGTCTAGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCA
TCCTGACCCCAGGCAGGCCCGTCTCTCAGGCCCACGCCCTGCACACAGGGGCTGGAGGGTCCTCCCCCACCCCAGTTGTCAGGGGCTGTGGAGCCCAGAACAGGCCAGGCAGGAAGGAAGGAAGGGGATGGGGGCTTCTGAGCCCCTGTCCCCGACGCCTGCTCCTTTCTCCTCTTTCCAGTCCTTTCCCCCAACCCTGATCCCAGCTCCTCTCCGCATGGGACCTCTCCCACCTCCCCCATCCCAAGCGTGAGTCCCTCTGGTCCAGGAGTGGGTCCACCATGTGATCACCTGGCCCCATCACATGGTACCCCCATGGCGCCCTTGGAGCATGGGCATGTGACAGCCATGATGGGAGGCATGGTGACATCGAGCAGTCAGATGTCTGCCCCAAGGTCCGGGTTGGGGACCTTGTGCTGGGGAGGGGCGGCTGTCTTAGACTGCGGGTGACATTCACCTATGGAACAACTGCTAGGCCTGTCCCAGAGCACACGGGCTGCAGCGCAGCATGATGGGGGAGGTCAGAGCAGAGGGGCCAGAGTACACGGAACACGAGATCTTGGGGGTGTCCTCAGGGTCCCCAGGAAACTAGAAGACGGGTTCATTCTCCTGAGTGATTTCCAGCCAAGGTGAAGGCAGCAGAGAGGACAGAGTGGGCTTTGGGGAATATAAAATGCTCCATCCATAGGCATCTCAGAGATATAGTCCCTGCTTCCGTGAATGGGGAAACTGAGGCAGAGAGTCCTGCAGGAGTCTGAGCTGAGGCTGTTTTACCTCTAGGCCTGAGCATGGTATTTTACAGGGAGCATCTTGTCACCTGTGACTAGGCCAGACCTCTTGGGGATCTGGAGAGTCCGGGGATCTGTGCTTATTCTGTTCCCTCCCTCCCCCTGCAGTCATCCCAGGGCGGGGGACACAGGACGCTCCTGTATGGCCATGCCATCCTGCTCCGGCATGCACACAGCCGCATGGTGAGTGCAACCTCGGTGGGCGTGGGCAGGGGCCAGGGCATGTGGGGCCTGCTAGAAGGAGGCTGACCTCCCTCTACAACCCTAGTATCTGAGCTGCCTCACCACCTCCCGCTCCATGACTGACAAGCTGGCCTTCGATGTGGGACTGCAGGAGGACGCAACAGGTGCAGCAGCTGGAGGGGATGGGGGTGTGAAGGGGCCCCGCAGCAGGGATTCAGGGGGTAGAAGGTCTGCAGAACGCCAAGGCAAGCATGAGACTACCCTGGGGACATGAATGGGGGCTTCGTAGCAGAGAGTCTGCGGTACAGTCCAGACAGGGAGACAGACACACGTTGGGGACCACTAGGCAGAGAGTCTGAAGTCAGGAACGGGGAACTGTTAGGCAGAGAGTTGGTGGCAGTGATAGGAGAGTTGTGGGCCAAGGGCCCGGGAGGCCTGGTGGAGGGAGAGCCCTGGGGAAGAGCATTCTGGGAAGCCATCATCTGACAGCCACCCCCATTCCATCCCCACCCATAGGAGAGGCTTGCTGGTGGACCATGCACCCAGCCTCCAAGCAGAGGTCTGAAGGAGAAAAGGTCCGCGTTGGGGATGACATCATCCTTGTCAGTGTCTCCTCCGAGCGCTACCTGGTGAGCCATTGCGGTTCCTCCTGCTCCCAGGTCTGGGGGCGCATGGGATGGTCCCCATCTTCTCACCATGGGTTTGCCTGGCTGATCTCCCACCCCCAAGGTCCTGACTCCCAATTTCCCATTTCCTGACCCCTGACATCCAATTTTCTGATTTCTGACCTCCCATTGCCCGACTTGATCATTTCCTGATCTGTGATCTCTGATGACTCTGTCTCCCATCTGCCGGTTTCCGGGTATCCACCCTTGATTTCTGGCCTCTGACGCTGGGACTCTCGCCCACCCCTGCAATCGTCTCTGACTGCCGCATCCTGGTGGCCCCCAGCACCTGTCGACCGCCAGTGGGGAGCTCCAGGTTGACGCTTCCTTCATGCAGACACTATGGAACATGAACCCCATCTGCTCCCGCTGCGAAGAGGGTGAGGGCCCCAGACCTCCCCCTAAATGGAGATCCCCCCCAAAACAGACCCTTAATGTTGCCCTTCAGGCATACCCAAATGGAGCCTTGGAACCTCAGACCTCAAACCTAGATCTCCAAATTATGGCTCTCACACTTAGATCTCCAGCTGACCCCAAATCCAGACCCCCAGAGCTCAGAACCCCCCCAAACCCCGAACTAAATATCAGGCTCCCAAACTTAGACCCCAAAGTATTAGCCCCCAAGGCTCCTAAACTCAGATTCAAATCTTAAAACATCAAGTTTAAAGCTTGTTTAAAGGCCGGGCATGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTTTATTAAAAATGCAAAATTATCTGAGTGTGGTGGCATGTGCCTGTAATCCCACCTACTCAGGAGGGTGAGGCAGGAGAATTGCTTGAACCTGGGTGGCAGAGGAGCCTGGGTGACAGAGCCAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATTAAACTCCTTAGACAATAAGCATAGACTATGATCTCAGCCCCTCAAACCCAGACCCCCAAATTCAAACCTCAGATCCCCAAACCAAGACTCCAATCTTCAGCCCTCCAACCTCAGACTTCCAAACTTCAATTTCAAATCCCAAAAACCAAAATCCACCAAAGCAAACTCCCAATTCAGATTCCCATGCTAAGACTCCAGGCATGGCCCAATACTTTGACCCCAAGTCTCATACCCCAAACTTCAGAGTCCTAAACCAGACCCACGCTGGGACTCAAACCACAGATGGTTTTTGACCCTCAAACTCAGACCCTGAAACTCAGACTCATCAACTTCTAACTACAAAGCTCAGATCGTTCCTACGTCATACCCCAAAGCTCAGACTTCCAAACCCTAGATTGTAACCTCAGATCCCCAACCTCACTTTCCAGCTTCTGGCCTCCAAAATCAATACTCAAGGCCAAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGGGGCCAAGGCGGGTGGATCACTTGAGATCAGGAGTTCGAGACCAGCCTGGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTGGCTGGGCATGATGGCGGGCGGCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGTATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTGCAGCCTGGGCAACAGAGCAAAACTCTGTCTTAAAAACAAAACTAAACAAAACGAAACAAAAAAACCCTCAAAATTCAGGCCCTAACTCCAGAACCCAGCCTCAGACCCAACCATCACCCTTCTAAACCCAGAGGCCAAACCTCAACCCTAGAACTCAGACTCCAACACCAGTGAACATTAGACCTCCACCTTTCACCACACACACACTCTGACCCCAACCTCAAAAGTCCAAACTCAGAACCTTAAATGACAGACTCACAACTCCCCCAGCCTCAGCTCTGCAGACCCAGACCCCCCAAATTAGGTGCCCAGCTTCAGACCCCAAGTCTCATATCCCCACTTCAGGCCTCAACCTTGGCCTGAAAATACCCTGAAACTCAGACCTCCAACTGCAAAACCCCAAACTCAGCCCTCAGGTTCCCCCAGGGGAGGAGCAGGGCCCCTGACTTCATCTTGGCTCCTGGTCTTCCTGGGGCTCCAGCCTCCCATTGACCAACTTCCCTTGCTCCTCTCCAGGCTTCGTGACGGGAGGTCACGTCCTCCGCCTCTTTCATGGACATATGGATGAGTGTCTGACCATTTCCCCTGCTGACAGTGATGACCAGCGCAGGTCTGGGCTGTGGACGAGAGGGCCTGGGGTCTAGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCC
benign
303,182
Chromosome 19, position 38446461, gene RYR1 (ryanodine receptor 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
benign
TTTCTGACCTCCCATTGCCCGACTTGATCATTTCCTGATCTGTGATCTCTGATGACTCTGTCTCCCATCTGCCGGTTTCCGGGTATCCACCCTTGATTTCTGGCCTCTGACGCTGGGACTCTCGCCCACCCCTGCAATCGTCTCTGACTGCCGCATCCTGGTGGCCCCCAGCACCTGTCGACCGCCAGTGGGGAGCTCCAGGTTGACGCTTCCTTCATGCAGACACTATGGAACATGAACCCCATCTGCTCCCGCTGCGAAGAGGGTGAGGGCCCCAGACCTCCCCCTAAATGGAGATCCCCCCAAAACAGACCCTTAATGTTGCCCTTCAGGCATACCCAAATGGAGCCTTGGAACCTCAGACCTCAAACCTAGATCTCCAAATTATGGCTCTCACACTTAGATCTCCAGCTGACCCCAAATCCAGACCCCCAGAGCTCAGAACCCCCCCAAACCCCGAACTAAATATCAGGCTCCCAAACTTAGACCCCAAAGTATTAGCCCCCAAGGCTCCTAAACTCAGATTCAAATCTTAAAACATCAAGTTTAAAGCTTGTTTAAAGGCCGGGCATGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTTTATTAAAAATGCAAAATTATCTGAGTGTGGTGGCATGTGCCTGTAATCCCACCTACTCAGGAGGGTGAGGCAGGAGAATTGCTTGAACCTGGGTGGCAGAGGAGCCTGGGTGACAGAGCCAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATTAAACTCCTTAGACAATAAGCATAGACTATGATCTCAGCCCCTCAAACCCAGACCCCCAAATTCAAACCTCAGATCCCCAAACCAAGACTCCAATCTTCAGCCCTCCAACCTCAGACTTCCAAACTTCAATTTCAAATCCCAAAAACCAAAATCCACCAAAGCAAACTCCCAATTCAGATTCCCATGCTAAGACTCCAGGCATGGCCCAATACTTTGACCCCAAGTCTCATACCCCAAACTTCAGAGTCCTAAACCAGACCCACGCTGGGACTCAAACCACAGATGGTTTTTGACCCTCAAACTCAGACCCTGAAACTCAGACTCATCAACTTCTAACTACAAAGCTCAGATCGTTCCTACGTCATACCCCAAAGCTCAGACTTCCAAACCCTAGATTGTAACCTCAGATCCCCAACCTCACTTTCCAGCTTCTGGCCTCCAAAATCAATACTCAAGGCCAAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGGGGCCAAGGCGGGTGGATCACTTGAGATCAGGAGTTCGAGACCAGCCTGGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTGGCTGGGCATGATGGCGGGCGGCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGTATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTGCAGCCTGGGCAACAGAGCAAAACTCTGTCTTAAAAACAAAACTAAACAAAACGAAACAAAAAAACCCTCAAAATTCAGGCCCTAACTCCAGAACCCAGCCTCAGACCCAACCATCACCCTTCTAAACCCAGAGGCCAAACCTCAACCCTAGAACTCAGACTCCAACACCAGTGAACATTAGACCTCCACCTTTCACCACACACACACTCTGACCCCAACCTCAAAAGTCCAAACTCAGAACCTTAAATGACAGACTCACAACTCCCCCAGCCTCAGCTCTGCAGACCCAGACCCCCCAAATTAGGTGCCCAGCTTCAGACCCCAAGTCTCATATCCCCACTTCAGGCCTCAACCTTGGCCTGAAAATACCCTGAAACTCAGACCTCCAACTGCAAAACCCCAAACTCAGCCCTCAGGTTCCCCCAGGGGAGGAGCAGGGCCCCTGACTTCATCTTGGCTCCTGGTCTTCCTGGGGCTCCAGCCTCCCATTGACCAACTTCCCTTGCTCCTCTCCAGGCTTCGTGACGGGAGGTCACGTCCTCCGCCTCTTTCATGGACATATGGATGAGTGTCTGACCATTTCCCCTGCTGACAGTGATGACCAGCGCAGGTCTGGGCTGTGGACGAGAGGGCCTGGGGTCTAGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATCTCGGCCAGGCGTGGTGACTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATCACTGGAGGCCAGAAGTTCAAAACCAGCCTAGGCAACATCATGAGACCCCCGTCTCTGCAAAAAAAATAAAATAAAATAAATAAAATAAAGAATTAGCCGGGTGTGGTGGTGTGCACCTTTAGTCTCAGCTACTTTGTGGGGCTGAGGTGGGAGGATCACTCGAGCCCAGCGGGTCAAGGCTGCAGTGAGCTGAGATCCTGCCACAGTACTCCAGTCTGGGTGACAGAGCAAGATCCTGTCTCAAACAAACAAACAAACAAAACAAAAACAAAAAGAGGCCAAGCGTGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCCAGACCAGGCTGGCTAACGTGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTTGCCTGGTGTGGTGGTGGGCACCTGTAATCCTTGCTACTGGGGAGGCTCAGGCAGGAGAATCCCTTGAACCCAGGAGGTGGCGGTTGCAGTGAGCTGAGATTGCACCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATACAAAAACAAAGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAATTAGCCAGGCGGTAGTGGCACGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGGTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCCCTGCCTTAAAAAAAAAAAAAAAAACAAGCAAAACAAAAATAAAAAATGAAGTCTCTCTGGAGTCCTGTGGGAAAAGGAGGTTTGGGGGGTTTTTGAGGGAGAGATTGGGGGCCCTGAGTAAAATGATGGGGGAATTTAGGGGTCTGGAAAAACGAGGGCACTGGAGACATTTGGGAAGCCCTGAGGAAGCTGTGAAGGCCTGAGAGAGGATTGGGGTTCCTAAGGGAGGACTAGGGGTCCTAATTAAGATGGTTTGAGGAACACTGGAAGAGGGTTCGGGGCTTGAGGAGGTTTGGACCAAGACTATAGTGTCCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAGCCCTGGAGTTCAAGATCAGCTTGGGCAACATAGCAAGACCTGGTTTCTGTAAAAAAAAGAAAAAGAAGAAAAGACTGTAATGTCCATGGGAGAACTGGGGGGTCCTCTGACTCCCCTTGGCTCTCACCCTCCACAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCGAGTCCGGCATGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGTGGTGGTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTCCGCATCTCC
TTTCTGACCTCCCATTGCCCGACTTGATCATTTCCTGATCTGTGATCTCTGATGACTCTGTCTCCCATCTGCCGGTTTCCGGGTATCCACCCTTGATTTCTGGCCTCTGACGCTGGGACTCTCGCCCACCCCTGCAATCGTCTCTGACTGCCGCATCCTGGTGGCCCCCAGCACCTGTCGACCGCCAGTGGGGAGCTCCAGGTTGACGCTTCCTTCATGCAGACACTATGGAACATGAACCCCATCTGCTCCCGCTGCGAAGAGGGTGAGGGCCCCAGACCTCCCCCTAAATGGAGATCCCCCCAAAACAGACCCTTAATGTTGCCCTTCAGGCATACCCAAATGGAGCCTTGGAACCTCAGACCTCAAACCTAGATCTCCAAATTATGGCTCTCACACTTAGATCTCCAGCTGACCCCAAATCCAGACCCCCAGAGCTCAGAACCCCCCCAAACCCCGAACTAAATATCAGGCTCCCAAACTTAGACCCCAAAGTATTAGCCCCCAAGGCTCCTAAACTCAGATTCAAATCTTAAAACATCAAGTTTAAAGCTTGTTTAAAGGCCGGGCATGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGTTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTTTATTAAAAATGCAAAATTATCTGAGTGTGGTGGCATGTGCCTGTAATCCCACCTACTCAGGAGGGTGAGGCAGGAGAATTGCTTGAACCTGGGTGGCAGAGGAGCCTGGGTGACAGAGCCAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATTAAACTCCTTAGACAATAAGCATAGACTATGATCTCAGCCCCTCAAACCCAGACCCCCAAATTCAAACCTCAGATCCCCAAACCAAGACTCCAATCTTCAGCCCTCCAACCTCAGACTTCCAAACTTCAATTTCAAATCCCAAAAACCAAAATCCACCAAAGCAAACTCCCAATTCAGATTCCCATGCTAAGACTCCAGGCATGGCCCAATACTTTGACCCCAAGTCTCATACCCCAAACTTCAGAGTCCTAAACCAGACCCACGCTGGGACTCAAACCACAGATGGTTTTTGACCCTCAAACTCAGACCCTGAAACTCAGACTCATCAACTTCTAACTACAAAGCTCAGATCGTTCCTACGTCATACCCCAAAGCTCAGACTTCCAAACCCTAGATTGTAACCTCAGATCCCCAACCTCACTTTCCAGCTTCTGGCCTCCAAAATCAATACTCAAGGCCAAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGGGGCCAAGGCGGGTGGATCACTTGAGATCAGGAGTTCGAGACCAGCCTGGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTGGCTGGGCATGATGGCGGGCGGCTGTAGCCCCAGCTACTTGGGAGGCTGAGGCAGTATTGCTTGAATCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTGCAGCCTGGGCAACAGAGCAAAACTCTGTCTTAAAAACAAAACTAAACAAAACGAAACAAAAAAACCCTCAAAATTCAGGCCCTAACTCCAGAACCCAGCCTCAGACCCAACCATCACCCTTCTAAACCCAGAGGCCAAACCTCAACCCTAGAACTCAGACTCCAACACCAGTGAACATTAGACCTCCACCTTTCACCACACACACACTCTGACCCCAACCTCAAAAGTCCAAACTCAGAACCTTAAATGACAGACTCACAACTCCCCCAGCCTCAGCTCTGCAGACCCAGACCCCCCAAATTAGGTGCCCAGCTTCAGACCCCAAGTCTCATATCCCCACTTCAGGCCTCAACCTTGGCCTGAAAATACCCTGAAACTCAGACCTCCAACTGCAAAACCCCAAACTCAGCCCTCAGGTTCCCCCAGGGGAGGAGCAGGGCCCCTGACTTCATCTTGGCTCCTGGTCTTCCTGGGGCTCCAGCCTCCCATTGACCAACTTCCCTTGCCCTCTCCAGGCTTCGTGACGGGAGGTCACGTCCTCCGCCTCTTTCATGGACATATGGATGAGTGTCTGACCATTTCCCCTGCTGACAGTGATGACCAGCGCAGGTCTGGGCTGTGGACGAGAGGGCCTGGGGTCTAGGGGTGGACGTGGAGGGCTGGGACCCTATGAGTAGGATTAGGGACCAGATTCCGGGGAGCTGAACCCTTGACTTCACTCTCTTCTGTGTCCCCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGGCTGGAGCCACTGAGAATCAGGTAGGGCGGGGAAGATGGGGAGAGACCAGGGAGAGGCTGGGGTCACCTGGCAGGCTGGGAGGACAGAAAAGGTCTTGAGGGAAGATCTGATAAAGAGACTGAAGGGTCTCGAGGGAAAATCAGAGCAGCCTGAGAGAGAGATGAAAATCTCGGCCAGGCGTGGTGACTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATCACTGGAGGCCAGAAGTTCAAAACCAGCCTAGGCAACATCATGAGACCCCCGTCTCTGCAAAAAAAATAAAATAAAATAAATAAAATAAAGAATTAGCCGGGTGTGGTGGTGTGCACCTTTAGTCTCAGCTACTTTGTGGGGCTGAGGTGGGAGGATCACTCGAGCCCAGCGGGTCAAGGCTGCAGTGAGCTGAGATCCTGCCACAGTACTCCAGTCTGGGTGACAGAGCAAGATCCTGTCTCAAACAAACAAACAAACAAAACAAAAACAAAAAGAGGCCAAGCGTGGTGGCTCACGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCCAGACCAGGCTGGCTAACGTGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTTGCCTGGTGTGGTGGTGGGCACCTGTAATCCTTGCTACTGGGGAGGCTCAGGCAGGAGAATCCCTTGAACCCAGGAGGTGGCGGTTGCAGTGAGCTGAGATTGCACCATTGCATTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAATACAAAAACAAAGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACTAAAAATACAAAATTAGCCAGGCGGTAGTGGCACGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGCAGTGAGGTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGGCCCTGCCTTAAAAAAAAAAAAAAAAACAAGCAAAACAAAAATAAAAAATGAAGTCTCTCTGGAGTCCTGTGGGAAAAGGAGGTTTGGGGGGTTTTTGAGGGAGAGATTGGGGGCCCTGAGTAAAATGATGGGGGAATTTAGGGGTCTGGAAAAACGAGGGCACTGGAGACATTTGGGAAGCCCTGAGGAAGCTGTGAAGGCCTGAGAGAGGATTGGGGTTCCTAAGGGAGGACTAGGGGTCCTAATTAAGATGGTTTGAGGAACACTGGAAGAGGGTTCGGGGCTTGAGGAGGTTTGGACCAAGACTATAGTGTCCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAGCCCTGGAGTTCAAGATCAGCTTGGGCAACATAGCAAGACCTGGTTTCTGTAAAAAAAAGAAAAAGAAGAAAAGACTGTAATGTCCATGGGAGAACTGGGGGGTCCTCTGACTCCCCTTGGCTCTCACCCTCCACAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCGAGTCCGGCATGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGTGGTGGTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTCCGCATCTCCN
benign
303,184