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 |
|---|---|---|---|---|---|
Benign or pathogenic: chromosome 11, position 117382886, gene CEP164 (centrosomal protein 164) variant? Disease(s) if pathogenic? | pathogenic; ['Nephronophthisis_15'] | GGCCTTGCAGGGTCTGTGTGTGCACATGCGTGTGTATATGTGTGTGCACGTGTGTGTACTGGCAATGTGTGTATATGTTTGCATGCATGAGCAGACCCTTTGTTTCTTCACCAAGATGGGAATGTGAAGTGCCACTGGGTACAATTGGCAGGACTCTGGGCACCATTGTGGGGCCAGGGCTGATGAAGCTGTGTGTGTGCCTGGTTATGGGCCAGGGCTGAAGAAACCTTGTGGAGGTCTGGAGGAGTCGCATTGGAGGGTTGGTACTGCAGCTCAAGAGTTCTGAGCCAGGGCCCTGCCACATCAGAAATGGCTGTAGCTATCTGTGAGAGTGCAACTGTGTGTGATGTGACAGGGGCTCTCAGCTTCTCCGGCCTGAGCCCCATGACAAGGGCTGCCACCCTAGAAGGGGAAGGAGAATGGTCATTTCACTTTTGGACCTGCAAAAACTATCCATGACAGCTTCATGCATTTTTCTAGTTTGACCTCTTGAGTCTGGCTTCTCTTTTTCTCCCCACTTAGTTCTTCCACCCCTCCCTGGCCCCAGTGCTGGTGAGCTCTGGGGATGGGTATACTTGTGAGTGTGTCCTGCTCTTACTCCTGAACCAAGCAGAGGCAGTATAGGGACCCCTGTGGAGCCTGACTCCAGTCTAGGTAAAAGGAGGGCTCAGGAGGGAGTCTATCCTTCCCACATGTGTGGCTGCCTTGCCCTGCTATGGCTCTCCATGGATGGATGTGGGGGTGGGGCTGGAGCATAACCCAGGAGGAGGCAATGACCTAGGTCCACACACTGTACTCCCCAGTTCTCTTCCCGCTCTCCAAATGGAGGGGCCTGACTCTGCTGCTCTGCCCGGCCTGACCAGGTTATCTCCTCCACTTCCACACGAGGAGCGGGCCCAGAGTCCCCCTCGCAGCCTGGCCACTGAAGAAGAGCCTCCCCAGGGCCCCGAGGGGCAGCCCGAGTGGAAGGAGGCAGAGGAGCTTGGGGAGGACTCTGCAGCCAGCCTCAGCCTGCAGCTGTCCCTCCAGAGGTAAGGATGAGGGGAAGCATCCTCATGAGGATGAGGGCTGGTGGCTGCTCTGTGTGTAGTGGGTATGTGTGCTAGTGCTGAGAGAGATGGGGGTGGGGTTGGCTTGGGGAGGGAGTGGGGAGCTGGGGCGGGTTTGTAGCCTCAGCAGCAGCAGCAGCAGAGGCTCTGCTTAGTGTCCCATGGGATCTGGATATGAGGAAATGTGCCTCTTCCTAGTCCTCAGTCTACAGCTGAAATCAGGGTATGTGGTCTGATTAGAGGAACTTAGAAACTCTTGAATAAGGAGGTGTCTCTTTTGTCACAGCTGCCTCCCTGCAAGGGGCTGGAGCAGAGACTGGTATCACCCTGGCTGCTCCATTCCTGTCAGGGAAGCCCTTTCTCTAGTCCCCTCCCTACCAGCACCCCTGTTTCCAATAGTCATCCTACTTCTTGTCATTCAGCAACCCCAGCTGGAGCCCTGTTATGTGCTCGGCCCAGGGAGAGGGAAGCCCAGATAACTCTGGGTCCAGCTGAGAGGACCTTTTTTCTTAGCCTAGTCAAGAGCGTGGTGGACATTTGCTAGTTGTCTGTCCCCCTAGCAAGAGAAACATGCTGGTCTTAGAATTCATTGGGTTGGAATGAGTCACTAGGGAACCTGAGCAGCATCGATGTGCAATCAACAGCATCCACTGAACACCTGCTGTGTACGGAGCTCCTGGGGTACCATAACCATCTTGCTTCCATTGTGAGGCAGGAGTCTCTAGTCTTTGATGCAAATAATTCAGGGAGAGGAAGGGCGGGGAGAGGGAGGTCTAAGACCCGAGGTAGGGAAATTGTTGGGCTGTCTCTCTTGTCTCTGTCATAGCTCTTTGACCCCAAATGGCGTACATCTTAAGCCTCTTGCTTTCTTACTGGCTTTAACACAGTTGTTTCCTTACTGCTATCAAGGGAGCAGGCCCCAAGCCCACCTGCTGCCTGTGAGAAGGGCAAGGAGCAGCATTCCCAGGCCGAGGAGCTGGGCCCTGGGCAGGAAGAGGCAGAGGATCCTGAGGAGAAGGTGGCGGTCAGCCCCACCCCGCCAGTCTCTCCAGAGGTGTAAGGGCCAGTTTTGTGTGTCTGTCCCTGACCTCCACTGCGTGTGGGCTGCTTCAGTGCCTATTCACTCTTGGGTGGTGGGAGGTGGGGCTCAGGCTCTGGCCAAGGGTTAGAGTGTAGGGAGATTAAGCATATCCTTGGTGCTCTGTGTGCAGCCTTGAGAGCCCCACACAGGCATGACTGATCCTTACCTGGGGTTAGCTTTGGTCTCTGGGGCTCCTGGTCAGGACTTGAGGTACAAGGGCAGATGAGGGGGTACCTCCTGGCTCATTTGCTAAACTTGCTAAATCATGTTTCCTGTCTACCAAGCACTGTTTTTCTCTTCAAAAATGTTGTTGAGGTATGTATGTACACTGCAGTACATAGGCCTAAAGTGTACAGTTCAGTGAAAGTTTGCATCTGTGCACACTGTATAATGGCCACTCAAACAGGGAATGTCTCCATCCCTCGAGGAAGTTTCCTCGTGCCCCTCTCAAACCACTCACCCCAGATCTTCACTGTTCTGGCCTGTGAGCTCCAAGTTCTGGCCAAAGGGTCATTTTTCCAGTTCTCTACTTCACATACATGGAATTATACAGTATACAGGATTGATCTTTTGTGCTTGTGTTCAAAGCTCAGTGTGTTTTTCTGATTCACCTATGTTGTTGAACCAAGTACTTCTAAAATTTAGAAATCATTTAGCTTTTCTCCTTCCATTCTTACCCTTCCCCTTCCTACTCAGTTTTCAGACGAGGAAACTGAGGCTCAGAGAAGTGAAGGGATTCATCTAAGGTAACATCGCTAGTCAGTGGCAGAATTAGAACTAGATTATAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTATAATCCCAGCTACTTGGAAGACAGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGTATTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAATAAAAACACTAGTTTATAGTCACTAGAGCCCTAGACTTCTGACTTTAGTCTGCAGCCACTGTTCCTTTTCTCTGCATAGAGAAAGAGAAGGATCAGGACTTAACATTTTCCCTTCTGTGAACTGAGCAGGTCTAAAGGATTTGGGACTGACTCATGAGCAGAGACAGGTTTATGCACACATTACTCACAGCAAGTTCATGCACACATTACTCACTGAGAGCTGGCAGGGCACGTGAGCTCAGGATCTCATGTTGTCACCATAACATTGCAGGAGTGGTGTATGGAAGGGGTGGTCATGTCTTTCAGATGGTGATACATCCTACAGTGAAAACTGTGACCTGGAGGAATTATATGGCTTTCCTGTCACCTTGGTGGCTGTGGTTAGCCAGTTCAGGATGCTTTCTGTGAGGACAGGAGGTGGATGTAGTTCAGAGAGAGGAAGATTGGGCAGAGGTCAGAGGGATGTCTTCCCAGGACCTCTAGAGGGAAGCCTGGGCAGCCGGGCTCAGTTGGGGCCTTGGCTTCCCCAGCTCCTCCCCAGTTGCCTTGGCCGATTCATTCCTTTGTCTTGTGTTTCTCCCGCCATCCCAGCGAGGCTGCCCCTGCTAGGGTCTGAGAAATACCTGACCACGCAGTTTCAGTTTATACCATCCCCTTAGGAAATGCCTTCTCTTCCTTTCCTGAGTCTCTTCAGGCCCCATCGCTTCCGTGTTATTAATCTTTACAGCGGCATCAGGAATGGATGGGTTGTCTAGGTTTTGTGGGAGTAGCTCTGTGTCTGTCAGCTTCCAAAGGTGTAGTCAAGCTGGATCTGAAGGGTTAGGAGCAGAGGGCAAGCTAGAGGGAGCAGGTAGGTCCAGGAGGCAACATGTGCCACTCACCGAATGCTTTCTG | GGCCTTGCAGGGTCTGTGTGTGCACATGCGTGTGTATATGTGTGTGCACGTGTGTGTACTGGCAATGTGTGTATATGTTTGCATGCATGAGCAGACCCTTTGTTTCTTCACCAAGATGGGAATGTGAAGTGCCACTGGGTACAATTGGCAGGACTCTGGGCACCATTGTGGGGCCAGGGCTGATGAAGCTGTGTGTGTGCCTGGTTATGGGCCAGGGCTGAAGAAACCTTGTGGAGGTCTGGAGGAGTCGCATTGGAGGGTTGGTACTGCAGCTCAAGAGTTCTGAGCCAGGGCCCTGCCACATCAGAAATGGCTGTAGCTATCTGTGAGAGTGCAACTGTGTGTGATGTGACAGGGGCTCTCAGCTTCTCCGGCCTGAGCCCCATGACAAGGGCTGCCACCCTAGAAGGGGAAGGAGAATGGTCATTTCACTTTTGGACCTGCAAAAACTATCCATGACAGCTTCATGCATTTTTCTAGTTTGACCTCTTGAGTCTGGCTTCTCTTTTTCTCCCCACTTAGTTCTTCCACCCCTCCCTGGCCCCAGTGCTGGTGAGCTCTGGGGATGGGTATACTTGTGAGTGTGTCCTGCTCTTACTCCTGAACCAAGCAGAGGCAGTATAGGGACCCCTGTGGAGCCTGACTCCAGTCTAGGTAAAAGGAGGGCTCAGGAGGGAGTCTATCCTTCCCACATGTGTGGCTGCCTTGCCCTGCTATGGCTCTCCATGGATGGATGTGGGGGTGGGGCTGGAGCATAACCCAGGAGGAGGCAATGACCTAGGTCCACACACTGTACTCCCCAGTTCTCTTCCCGCTCTCCAAATGGAGGGGCCTGACTCTGCTGCTCTGCCCGGCCTGACCAGGTTATCTCCTCCACTTCCACACGAGGAGCGGGCCCAGAGTCCCCCTCGCAGCCTGGCCACTGAAGAAGAGCCTCCCCAGGGCCCCGAGGGGCAGCCCGAGTGGAAGGAGGCAGAGGAGCTTGGGGAGGACTCTGCAGCCAGCCTCAGCCTGCAGCTGTCCCTCCAGAGGTAAGGATGAGGGGAAGCATCCTCATGAGGATGAGGGCTGGTGGCTGCTCTGTGTGTAGTGGGTATGTGTGCTAGTGCTGAGAGAGATGGGGGTGGGGTTGGCTTGGGGAGGGAGTGGGGAGCTGGGGCGGGTTTGTAGCCTCAGCAGCAGCAGCAGCAGAGGCTCTGCTTAGTGTCCCATGGGATCTGGATATGAGGAAATGTGCCTCTTCCTAGTCCTCAGTCTACAGCTGAAATCAGGGTATGTGGTCTGATTAGAGGAACTTAGAAACTCTTGAATAAGGAGGTGTCTCTTTTGTCACAGCTGCCTCCCTGCAAGGGGCTGGAGCAGAGACTGGTATCACCCTGGCTGCTCCATTCCTGTCAGGGAAGCCCTTTCTCTAGTCCCCTCCCTACCAGCACCCCTGTTTCCAATAGTCATCCTACTTCTTGTCATTCAGCAACCCCAGCTGGAGCCCTGTTATGTGCTCGGCCCAGGGAGAGGGAAGCCCAGATAACTCTGGGTCCAGCTGAGAGGACCTTTTTTCTTAGCCTAGTCAAGAGCGTGGTGGACATTTGCTAGTTGTCTGTCCCCCTAGCAAGAGAAACATGCTGGTCTTAGAATTCATTGGGTTGGAATGAGTCACTAGGGAACCTGAGCAGCATCGATGTGCAATCAACAGCATCCACTGAACACCTGCTGTGTACGGAGCTCCTGGGGTACCATAACCATCTTGCTTCCATTGTGAGGCAGGAGTCTCTAGTCTTTGATGCAAATAATTCAGGGAGAGGAAGGGCGGGGAGAGGGAGGTCTAAGACCCGAGGTAGGGAAATTGTTGGGCTGTCTCTCTTGTCTCTGTCATAGCTCTTTGACCCCAAATGGCGTACATCTTAAGCCTCTTGCTTTCTTACTGGCTTTAACACAGTTGTTTCCTTACTGCTATCAAGGGAGCAGGCCCCAAGCCCACCTGCTGCCTGTGAGAAGGGCAAGGAGCAGCATTCCCAGGCCGAGGAGCTGGGCCCTGGGCAGGAAGAGGCAGGAGGATCCTGAGGAGAAGGTGGCGGTCAGCCCCACCCCGCCAGTCTCTCCAGAGGTGTAAGGGCCAGTTTTGTGTGTCTGTCCCTGACCTCCACTGCGTGTGGGCTGCTTCAGTGCCTATTCACTCTTGGGTGGTGGGAGGTGGGGCTCAGGCTCTGGCCAAGGGTTAGAGTGTAGGGAGATTAAGCATATCCTTGGTGCTCTGTGTGCAGCCTTGAGAGCCCCACACAGGCATGACTGATCCTTACCTGGGGTTAGCTTTGGTCTCTGGGGCTCCTGGTCAGGACTTGAGGTACAAGGGCAGATGAGGGGGTACCTCCTGGCTCATTTGCTAAACTTGCTAAATCATGTTTCCTGTCTACCAAGCACTGTTTTTCTCTTCAAAAATGTTGTTGAGGTATGTATGTACACTGCAGTACATAGGCCTAAAGTGTACAGTTCAGTGAAAGTTTGCATCTGTGCACACTGTATAATGGCCACTCAAACAGGGAATGTCTCCATCCCTCGAGGAAGTTTCCTCGTGCCCCTCTCAAACCACTCACCCCAGATCTTCACTGTTCTGGCCTGTGAGCTCCAAGTTCTGGCCAAAGGGTCATTTTTCCAGTTCTCTACTTCACATACATGGAATTATACAGTATACAGGATTGATCTTTTGTGCTTGTGTTCAAAGCTCAGTGTGTTTTTCTGATTCACCTATGTTGTTGAACCAAGTACTTCTAAAATTTAGAAATCATTTAGCTTTTCTCCTTCCATTCTTACCCTTCCCCTTCCTACTCAGTTTTCAGACGAGGAAACTGAGGCTCAGAGAAGTGAAGGGATTCATCTAAGGTAACATCGCTAGTCAGTGGCAGAATTAGAACTAGATTATAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTATAATCCCAGCTACTTGGAAGACAGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGTATTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAATAAAAACACTAGTTTATAGTCACTAGAGCCCTAGACTTCTGACTTTAGTCTGCAGCCACTGTTCCTTTTCTCTGCATAGAGAAAGAGAAGGATCAGGACTTAACATTTTCCCTTCTGTGAACTGAGCAGGTCTAAAGGATTTGGGACTGACTCATGAGCAGAGACAGGTTTATGCACACATTACTCACAGCAAGTTCATGCACACATTACTCACTGAGAGCTGGCAGGGCACGTGAGCTCAGGATCTCATGTTGTCACCATAACATTGCAGGAGTGGTGTATGGAAGGGGTGGTCATGTCTTTCAGATGGTGATACATCCTACAGTGAAAACTGTGACCTGGAGGAATTATATGGCTTTCCTGTCACCTTGGTGGCTGTGGTTAGCCAGTTCAGGATGCTTTCTGTGAGGACAGGAGGTGGATGTAGTTCAGAGAGAGGAAGATTGGGCAGAGGTCAGAGGGATGTCTTCCCAGGACCTCTAGAGGGAAGCCTGGGCAGCCGGGCTCAGTTGGGGCCTTGGCTTCCCCAGCTCCTCCCCAGTTGCCTTGGCCGATTCATTCCTTTGTCTTGTGTTTCTCCCGCCATCCCAGCGAGGCTGCCCCTGCTAGGGTCTGAGAAATACCTGACCACGCAGTTTCAGTTTATACCATCCCCTTAGGAAATGCCTTCTCTTCCTTTCCTGAGTCTCTTCAGGCCCCATCGCTTCCGTGTTATTAATCTTTACAGCGGCATCAGGAATGGATGGGTTGTCTAGGTTTTGTGGGAGTAGCTCTGTGTCTGTCAGCTTCCAAAGGTGTAGTCAAGCTGGATCTGAAGGGTTAGGAGCAGAGGGCAAGCTAGAGGGAGCAGGTAGGTCCAGGAGGCAACATGTGCCACTCACCGAATGCTTTCT | pathogenic | 188,183 |
Chromosome 11, position 117393042, gene CEP164 (centrosomal protein 164): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['CEP164-related_disorder', 'Nephronophthisis_15'] | CCCAGGGCTGAGCAAGAGGCTTCCCTGCAGAAACTGAGAGAAGAGTTGGAGTCTCAACAGAAGGCTGAGAGGGCCAGCTTGGAACAGAAAAATAGGCAAATGCTGGAGCAGCTCAAGGAAGAGATAGAGGCTTCGGAGAAGAGCGAGCAGGCTGCCCTGAATGCTGCAAAGGAGAAGGCTCTGCAGCAGCTGAGGGAGCAGCTGGAAGGGGAGAGGAAAGAAGTGAGCTAGTCAAGTGGGGACCTCACCCTCTGACCTGTGTCTGGGCTGCCTGGGGAGGGACTGAGTGCACAAGGAGAAGAAGGGCAAGTCTCGGGTGGGCGTGCAGGCTGGGGAGCCAGGTGGAGAGTAGGTCTCACACACACAGGCATGGGAGACAGCGAGATGACCACCTGGGCCCATTACTCCATATGGACCGAATCGGCTCATGACAGGGCAGAGGATGCAGCAGGCATCACAAGGCTCCTCCAGGGTCAGGCTGGATGGCAGTGGCGGCTGGAGGTTGTCAAGCAGAGAACCCTCAGAGGCTTGAGGGAGAGCGTCCTGTGGATTTGAGAAAGTTCGTGACTGAAAGAGATTTAGCCAGACCAGAGGTTTTGAGACAAAGGCGCTCTGTCCCTCACTGTCTCTGAGGGACAGCTGCAAGGGCCTCACTCCCCACTTTTCTCTCCTTTCTTAGGATGAGAGGCTAGCAATATAGCAAGGATTTTCTCTTTGTCCATACTCCCTCTTCTACTCCAGTCAGATGGTGGGCTTCTGAAGGTTTTAGCACAGTCTCTCTGAGCACTTGTAGTACAGTGCACTTCCCTACTCCTGCTGTAGTGTTTTCCTTGTCTAATAGCTGCAGCTTTGCACCTCACCAAAATAAAAAGAAAATTCTACATGGCCCGACTTAATGACAGCATCCAACCTGGCCCCCCTGGCTTGGATCTTATTTACCAGCATGAGCACCATCTGTGGATCTGTGGCCTAGTCTAAAGGCAGGGGGTGGGAGCAGAGAGCCGAAACTTACTGAAATGCCCCTCTCCTCTGACCTTCATGTTCCTGTTCATTTGCCAGTTGTAGACTTCAGGGGCTGAGTTATTTCAGAGGAACAAAGATGTGCTGTGCTTCCCCATGCTTCCCTTGACCCTGATCTCGAGGGCTTGGGGGTCGGTAGTCTTCCTGGCTCCGCCTCCCACCATGATCAGTACCTGGCCAGCTTCACTCACAGTCCCTTTGCTCCTCCCCAGGCTGTGGCAACGCTGGAGAAGGAGCACAGTGCTGAGCTGGAGCGGCTCTGCTCCTCATTGGAGGCCAAGCACCGGGAGGTAAGATGCAGCATCCTGGGCCCCCTTCATGGCTGATTAGCAGAATTCAGCCCCATCCCTGGCTACTAGGCAGCGAGCCTCTCTCTCCAGCCCTGGGGGATGGATGCCAGGTCCTCAGAACACATCCCCACACAGCAGCTGTACAGTCTGTCTGAGGGTCACACTCCCCTGTGTGTGCGGGGGCCTCCTCAGGTGGTCTCCAGCCTCCAGAAGAAGATACAGGAAGCTCAACAGAAAGAGGAGGCCCAGCTGCAGAAGTGCCTTGGGCAAGTGGAGCACAGAGTTCACCAGAAGTCTTATCACGTGGCTGGGTATGAGCACGAGGTGAGTGCTGCTCTGTCTTCCACAGTCGTGTGCGCCTGTTGTGGACTCTCTTACAGTCAGCTGAGCCGGCCTAGCCTCAGCGGCCTCCAGTTTGCTTTGGATGGCTCAGCTGGGGTTAGCATTTCTAGTTCCCTTTTTATGCCTTAGTTCCCTTGAAGCCAGGTACTCCTCCAATCTGATGCCCCTGTATGCATGTGGGGAGGGGGTGTTGGGGTATGGCTGTGTGCTGACCATGGTGTCATGGCTGTGTGATGTGCATGTGTTGTGTGTGTTGGGGGAGATTGGGGAAATGTGTGTAAGACCTTCAGGTGCAGCAGGCCCTGAGTGCTGGTCCGCCTCGGTTCTTCATGCCACATCCCTGCCATCTCCCCTGCAGCTCAGCAGTCTCCTGCGAGAGAAGCGCCAGGAAGTGGAAGGGGAGCATGAGAGGAGGTTGGACAAGATGAAGGAGGAGCACCAGCAAGTGATGGCTAAGGCCAGAGAGCAGTATGAAGCTGAGGTAGCTCAGCCACATCCCCTGCGCGCATGCACACACATGCACACACACATGCACGCACATGCACACACACATGCACACACACATGCACGCACATGCACACACACCCCGGGGTCCTTCCCACCTGGCTGTGGGGCAGAGGAAGGGGATAAACTGTGGTCAGGGATTGTGGGAGGTTTTCCTTCCTGGTACCCTGCCACGATGATGTTTTTTGCCTTTTTTATTAAAACATGAGAAAAACCTCCACCTAATGGGGGGCAATTCCTCTTTTATCAGGCAGGCTGTACTTTCTTCTGATAGTAAAAAGAACCCCCATACATTGAGCTTGTACTGTGTGCCAAGAACTGTTCTGAGCTCTTTATCTATTTTAACTCATTTAGTCCTCACACCAGCCTTAGGAAGGATCTACTATCATTGTCTCCATTTTAAAGATGAGGGCACTGAGACTTGGAGAGTTTAAGTAGCTTCCCAAGATCACACCCAGCCAATAAGTAGAAGAGCTAGGATTCAAGCCCAGGCCATCTGACTCCAAAGCCTTCAGTTTCCTCACTGCAATGCTGTGTCACCAGGGTTCCTCAACATCTTGGGACACCAAGAAATAGACTGGCAAGAGCCAAGTAATACTGATATTCTCCCCATTTTAAGCCTTTGGTCTTAAGGTAGGAAAGTTCAGCGACTTGAGTTTACCCAAGCTGGCCTGCCTTGCTCACATTGAGGGTGAACAATGGGTGGGTAGAGGGTGGCTGACTATAGCCCACAGCTGGGACCCTGCAGGGTGTTAAGACTACTGCTCCAGTAACTGGAACCAGTATCCCAGACTCTTTCTAGGATCTTTCCCAGGGCAGAAATAGCAGTCCCATGATGAAATTTGCCATATCCCTTCCCCCAACCAATTATGACCTTGCTGAAGAATAGTGATAATTTATCAGTGACCTCTCATTCCTTACAGAGGAAAAGTTGTATATGGTGGAGCCATAGGGAGAGCCAGAAAGGGAATCTGTCGTGGTGTCTGACCAGCCTCTGCTTCAGCTCTAGAGGGCTGCAGGCTTGCTGGGGCCAGGGCCGGTGCTGTGCTTGTAACCCTCCTCTTCTCCAAGAGCTGGCTTTAGGGAGCCGATGGTGTCCCTGATCTTACTGATGCAAGGCTGCAGGGCTAGGGGAGCTGTGATTTTTGTGGTAGAAGGGGCTGCCGCAGCTTCCCACCGGTGGGCCCACCCTCCTTGCAGGAGAGGAAGCAGCGGGCTGAGCTTCTGGGGCACCTGACCGGAGAGCTGGAGCGCCTGCAGAGGGCCCATGAACGAGAACTGGAGACTGTGAGGCAGGAGCAACACAAGCGTCTTGAGGACTTGCGGCGCCGGCACAGGGAGCAGGTGAGGGGCCTGGGGCAGGGTGAGCCCACTGTGACCCCTCCATGCACAGTAGGAAGGTGCTGGGAGCAGACGCATGGCCCCAGCAGGATGCAGCCTGACAGCTTCTGGAGTGAGAGTCTCTCACTGGCCATCTCCAAGCTGGGGCATCCTTGTTACTTTGTTTTCTGGGCCAGGGAACACACTCAGGATTAGAACTAGAGGTCAGCCCCTGTAAGGCATTGGGGTTGGCACCTTTGCGTCTCCTTGCCCCAGCAGGAAGTAAACAAGGTGTGGAGCCTTCCTGGGAGGCTGCAGGGGCACACAGCGAGGAAGCCTGAGCCCAGAGTGGAGGTTGTGGTGTGGCATGGTGGGTTCTGGAACCCCCTCCTGCCCCTCAGCTAATGCCTTACACTCTTTCTATGCTTATGTGTTTCCCTTTCTGGGCAGGAAAGGAAGCTCCAGGATTTAGAGTTGGACCTTGAAACCAGAGCTAAAGATGTCAAGGCCAGATTGGCTCTGCTGGAGGTCCAGGTGAGGGATCTGCAGGAGTCCTTGACCTCAGAGTCATAGCTTCTCTAGCAGAGGGCAGGCTCTGCCCCTCAGACCTGGGGTCTGCA | CCCAGGGCTGAGCAAGAGGCTTCCCTGCAGAAACTGAGAGAAGAGTTGGAGTCTCAACAGAAGGCTGAGAGGGCCAGCTTGGAACAGAAAAATAGGCAAATGCTGGAGCAGCTCAAGGAAGAGATAGAGGCTTCGGAGAAGAGCGAGCAGGCTGCCCTGAATGCTGCAAAGGAGAAGGCTCTGCAGCAGCTGAGGGAGCAGCTGGAAGGGGAGAGGAAAGAAGTGAGCTAGTCAAGTGGGGACCTCACCCTCTGACCTGTGTCTGGGCTGCCTGGGGAGGGACTGAGTGCACAAGGAGAAGAAGGGCAAGTCTCGGGTGGGCGTGCAGGCTGGGGAGCCAGGTGGAGAGTAGGTCTCACACACACAGGCATGGGAGACAGCGAGATGACCACCTGGGCCCATTACTCCATATGGACCGAATCGGCTCATGACAGGGCAGAGGATGCAGCAGGCATCACAAGGCTCCTCCAGGGTCAGGCTGGATGGCAGTGGCGGCTGGAGGTTGTCAAGCAGAGAACCCTCAGAGGCTTGAGGGAGAGCGTCCTGTGGATTTGAGAAAGTTCGTGACTGAAAGAGATTTAGCCAGACCAGAGGTTTTGAGACAAAGGCGCTCTGTCCCTCACTGTCTCTGAGGGACAGCTGCAAGGGCCTCACTCCCCACTTTTCTCTCCTTTCTTAGGATGAGAGGCTAGCAATATAGCAAGGATTTTCTCTTTGTCCATACTCCCTCTTCTACTCCAGTCAGATGGTGGGCTTCTGAAGGTTTTAGCACAGTCTCTCTGAGCACTTGTAGTACAGTGCACTTCCCTACTCCTGCTGTAGTGTTTTCCTTGTCTAATAGCTGCAGCTTTGCACCTCACCAAAATAAAAAGAAAATTCTACATGGCCCGACTTAATGACAGCATCCAACCTGGCCCCCCTGGCTTGGATCTTATTTACCAGCATGAGCACCATCTGTGGATCTGTGGCCTAGTCTAAAGGCAGGGGGTGGGAGCAGAGAGCCGAAACTTACTGAAATGCCCCTCTCCTCTGACCTTCATGTTCCTGTTCATTTGCCAGTTGTAGACTTCAGGGGCTGAGTTATTTCAGAGGAACAAAGATGTGCTGTGCTTCCCCATGCTTCCCTTGACCCTGATCTCGAGGGCTTGGGGGTCGGTAGTCTTCCTGGCTCCGCCTCCCACCATGATCAGTACCTGGCCAGCTTCACTCACAGTCCCTTTGCTCCTCCCCAGGCTGTGGCAACGCTGGAGAAGGAGCACAGTGCTGAGCTGGAGCGGCTCTGCTCCTCATTGGAGGCCAAGCACCGGGAGGTAAGATGCAGCATCCTGGGCCCCCTTCATGGCTGATTAGCAGAATTCAGCCCCATCCCTGGCTACTAGGCAGCGAGCCTCTCTCTCCAGCCCTGGGGGATGGATGCCAGGTCCTCAGAACACATCCCCACACAGCAGCTGTACAGTCTGTCTGAGGGTCACACTCCCCTGTGTGTGCGGGGGCCTCCTCAGGTGGTCTCCAGCCTCCAGAAGAAGATACAGGAAGCTCAACAGAAAGAGGAGGCCCAGCTGCAGAAGTGCCTTGGGCAAGTGGAGCACAGAGTTCACCAGAAGTCTTATCACGTGGCTGGGTATGAGCACGAGGTGAGTGCTGCTCTGTCTTCCACAGTCGTGTGCGCCTGTTGTGGACTCTCTTACAGTCAGCTGAGCCGGCCTAGCCTCAGCGGCCTCCAGTTTGCTTTGGATGGCTCAGCTGGGGTTAGCATTTCTAGTTCCCTTTTTATGCCTTAGTTCCCTTGAAGCCAGGTACTCCTCCAATCTGATGCCCCTGTATGCATGTGGGGAGGGGGTGTTGGGGTATGGCTGTGTGCTGACCATGGTGTCATGGCTGTGTGATGTGCATGTGTTGTGTGTGTTGGGGGAGATTGGGGAAATGTGTGTAAGACCTTCAGGTGCAGCAGGCCCTGAGTGCTGGTCCGCCTCGGTTCTTCATGCCACATCCCTGCCATCTCCCCTGCAGCTCAGCAGTCTCCTGCGAGAGAAGCGCCAGGAAGTGGAAGGGGGGAGCATGAGAGGAGGTTGGACAAGATGAAGGAGGAGCACCAGCAAGTGATGGCTAAGGCCAGAGAGCAGTATGAAGCTGAGGTAGCTCAGCCACATCCCCTGCGCGCATGCACACACATGCACACACACATGCACGCACATGCACACACACATGCACACACACATGCACGCACATGCACACACACCCCGGGGTCCTTCCCACCTGGCTGTGGGGCAGAGGAAGGGGATAAACTGTGGTCAGGGATTGTGGGAGGTTTTCCTTCCTGGTACCCTGCCACGATGATGTTTTTTGCCTTTTTTATTAAAACATGAGAAAAACCTCCACCTAATGGGGGGCAATTCCTCTTTTATCAGGCAGGCTGTACTTTCTTCTGATAGTAAAAAGAACCCCCATACATTGAGCTTGTACTGTGTGCCAAGAACTGTTCTGAGCTCTTTATCTATTTTAACTCATTTAGTCCTCACACCAGCCTTAGGAAGGATCTACTATCATTGTCTCCATTTTAAAGATGAGGGCACTGAGACTTGGAGAGTTTAAGTAGCTTCCCAAGATCACACCCAGCCAATAAGTAGAAGAGCTAGGATTCAAGCCCAGGCCATCTGACTCCAAAGCCTTCAGTTTCCTCACTGCAATGCTGTGTCACCAGGGTTCCTCAACATCTTGGGACACCAAGAAATAGACTGGCAAGAGCCAAGTAATACTGATATTCTCCCCATTTTAAGCCTTTGGTCTTAAGGTAGGAAAGTTCAGCGACTTGAGTTTACCCAAGCTGGCCTGCCTTGCTCACATTGAGGGTGAACAATGGGTGGGTAGAGGGTGGCTGACTATAGCCCACAGCTGGGACCCTGCAGGGTGTTAAGACTACTGCTCCAGTAACTGGAACCAGTATCCCAGACTCTTTCTAGGATCTTTCCCAGGGCAGAAATAGCAGTCCCATGATGAAATTTGCCATATCCCTTCCCCCAACCAATTATGACCTTGCTGAAGAATAGTGATAATTTATCAGTGACCTCTCATTCCTTACAGAGGAAAAGTTGTATATGGTGGAGCCATAGGGAGAGCCAGAAAGGGAATCTGTCGTGGTGTCTGACCAGCCTCTGCTTCAGCTCTAGAGGGCTGCAGGCTTGCTGGGGCCAGGGCCGGTGCTGTGCTTGTAACCCTCCTCTTCTCCAAGAGCTGGCTTTAGGGAGCCGATGGTGTCCCTGATCTTACTGATGCAAGGCTGCAGGGCTAGGGGAGCTGTGATTTTTGTGGTAGAAGGGGCTGCCGCAGCTTCCCACCGGTGGGCCCACCCTCCTTGCAGGAGAGGAAGCAGCGGGCTGAGCTTCTGGGGCACCTGACCGGAGAGCTGGAGCGCCTGCAGAGGGCCCATGAACGAGAACTGGAGACTGTGAGGCAGGAGCAACACAAGCGTCTTGAGGACTTGCGGCGCCGGCACAGGGAGCAGGTGAGGGGCCTGGGGCAGGGTGAGCCCACTGTGACCCCTCCATGCACAGTAGGAAGGTGCTGGGAGCAGACGCATGGCCCCAGCAGGATGCAGCCTGACAGCTTCTGGAGTGAGAGTCTCTCACTGGCCATCTCCAAGCTGGGGCATCCTTGTTACTTTGTTTTCTGGGCCAGGGAACACACTCAGGATTAGAACTAGAGGTCAGCCCCTGTAAGGCATTGGGGTTGGCACCTTTGCGTCTCCTTGCCCCAGCAGGAAGTAAACAAGGTGTGGAGCCTTCCTGGGAGGCTGCAGGGGCACACAGCGAGGAAGCCTGAGCCCAGAGTGGAGGTTGTGGTGTGGCATGGTGGGTTCTGGAACCCCCTCCTGCCCCTCAGCTAATGCCTTACACTCTTTCTATGCTTATGTGTTTCCCTTTCTGGGCAGGAAAGGAAGCTCCAGGATTTAGAGTTGGACCTTGAAACCAGAGCTAAAGATGTCAAGGCCAGATTGGCTCTGCTGGAGGTCCAGGTGAGGGATCTGCAGGAGTCCTTGACCTCAGAGTCATAGCTTCTCTAGCAGAGGGCAGGCTCTGCCCCTCAGACCTGGGGTCTG | pathogenic | 188,205 |
The mutation impacting CEP164 (centrosomal protein 164) on chromosome 11 at position 117396185: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CCAGCCTCTGCTTCAGCTCTAGAGGGCTGCAGGCTTGCTGGGGCCAGGGCCGGTGCTGTGCTTGTAACCCTCCTCTTCTCCAAGAGCTGGCTTTAGGGAGCCGATGGTGTCCCTGATCTTACTGATGCAAGGCTGCAGGGCTAGGGGAGCTGTGATTTTTGTGGTAGAAGGGGCTGCCGCAGCTTCCCACCGGTGGGCCCACCCTCCTTGCAGGAGAGGAAGCAGCGGGCTGAGCTTCTGGGGCACCTGACCGGAGAGCTGGAGCGCCTGCAGAGGGCCCATGAACGAGAACTGGAGACTGTGAGGCAGGAGCAACACAAGCGTCTTGAGGACTTGCGGCGCCGGCACAGGGAGCAGGTGAGGGGCCTGGGGCAGGGTGAGCCCACTGTGACCCCTCCATGCACAGTAGGAAGGTGCTGGGAGCAGACGCATGGCCCCAGCAGGATGCAGCCTGACAGCTTCTGGAGTGAGAGTCTCTCACTGGCCATCTCCAAGCTGGGGCATCCTTGTTACTTTGTTTTCTGGGCCAGGGAACACACTCAGGATTAGAACTAGAGGTCAGCCCCTGTAAGGCATTGGGGTTGGCACCTTTGCGTCTCCTTGCCCCAGCAGGAAGTAAACAAGGTGTGGAGCCTTCCTGGGAGGCTGCAGGGGCACACAGCGAGGAAGCCTGAGCCCAGAGTGGAGGTTGTGGTGTGGCATGGTGGGTTCTGGAACCCCCTCCTGCCCCTCAGCTAATGCCTTACACTCTTTCTATGCTTATGTGTTTCCCTTTCTGGGCAGGAAAGGAAGCTCCAGGATTTAGAGTTGGACCTTGAAACCAGAGCTAAAGATGTCAAGGCCAGATTGGCTCTGCTGGAGGTCCAGGTGAGGGATCTGCAGGAGTCCTTGACCTCAGAGTCATAGCTTCTCTAGCAGAGGGCAGGCTCTGCCCCTCAGACCTGGGGTCTGCAGTCAGCCAGAAAATCCTGTCTCTTCCCTGCAAGGAGGAGACCGCCCGGAGGGAGAAGCAGCAGCTGCTTGATGTGCAGAGGCAGGTTGCTCTGAAGAGTGAGGTTTGTCTCCCTGTTTTGTCCTCCCTCCTGTTCTTCCTCCATTTCCTGTCTTTCTTCTCCCTGTTCCCCACATTTTGTTCATCTGATCTGTCCAGGGCACTGGGGTTCCAAACTCTGTTGGCCAGTATTCCACAAATAGTGCCACTCTGTGGACCCCACTTGGGAACCTCAAGGGAGTGGGACTGTGGTAGGACAGGAGCCTGCAGACCTCTTGACCTCAGAGGTGGTGACTTCAGTGGCTCTGAATTCATTCCCAGCCTGTCCTCCTTTGGCTTCCCTACCCTCTCGTGCTGTCTGCTCCCTGGCTTCTCTCTGTGCTGTCTCTGGGTGCTTCTATCTTTCCTTTTGCCCCTAGGAAGCCACAGCCACCCATCAGCAGCTGGAGGAGGCACAGAAGGAGCACACCCACCTGTTGCAGTCAAACCAGCAGCTCCGAGAAATTCTTGATGAGCTGCAGGCCCGCAAGCTGAAGCTGGAGTCCCAAGTGGATCTGCTGCAGGCTCAGAGCCAGCAACTGCAGAAACACTTCAGGTGGCGTGGGCACCCTGCACTTAGCCCTGCTGGCTGCCTCCTGCCTGCCCTCTGACCTCTGCTGCTTGTGTCATGGCCCAGTTAATAGGGAGAGGTGGAGTCCCAGCTTGGGAGCTAGGCAGAAGAGCCTGTGGCTACATTTTGTAGGGAGTTGGGGTTGTTAAGATTCTGTGAAAAGCAGGGGATCTCTGGTGCTATTGTTCGTGCCTGAGCCCTTCCTCAGGGACTTTGACGGATGGGAGTGAGGGGGTGGAGATGGTTCTGACCCACTTCACCCCTCCCCCCCATCGCCAGCCGCTGCCCTGCCTCTCACTCATCTTTCCTTCCACAGCAGCCTGGAGGCTGAAGCTCAAAAGAAGCAGCACCTGTTGAGAGAAGTGACAGTTGAGGAAAATAATGCTTCCCCACATTTTGAGCCAGATCTCCATATTGAGGACCTGAGGAAATCCCTTGGAACAGTGAGCTGGGGGCTGGGGCCTGGGGGCTGGGGCACCAGGATGGTGTGGGGCATTGGGAGGGGCTGGGCATCAGGGGAGTACTTCCAGAGGGGACAGCTCATCAGGAGGGGTGGAGCCTCAGGAGGGGAGGAGTATAAGGTGGGCCAAGGCATCAGGAAGGGCTGGCTCTGTTCTCTATGGGACCTGGTCTGTTCTTATTCCCAGCTACCAGTCGTCTCCACCAGTCAGATGATATCTATAAGTAAACAGTGCCTGGCAGCTAGAGAGCCATTTCCTTGTCTAGACCACTGGGAGGGGCTTTGGGGTCTTGAACCTGCAGGGTGTCTGCTTTTGCTACACTCAGTGGACTTTTCTACCATGTGTCCCTAGAACCAGACCAAAGAGGTGTCTTCTTCTCTCTCCCAGAGCAAGGAGGACTTATACTTGGACAGGTGAGTTCCCATAGCCTGTCTTATTTGAGGTTAGGGTACCATGAAGGGGTAAGTGAGTACCTGCATCATAGAGCTGGGGTGAGCTGAAGTGAGGAGACGGTGATCACCAGTGGGGCTTAGTTCATGGGGAAGGCTCCGGAGGATTAAGGAATCTTCTCTGGCAAGCCAAGAAACTGCCCACTGTGACCTTTGACATGGCATTCTCCTCTAGTGGAGAAGCAGATTGCTGGAAGTGTTTGGTCATCTATCTGGAGGCCCCAGGCCTGATCCCTCTCAGAGTCAGGGTGGGGGCACTGTCAGTCCCAGGCACTGCGCACTGTGGGTATTGAACAGTGGCATCCCTGCACTCACAGTGCCCAGCCCTAGCCCAGCAGCTCTGGTCTGTGCTCAGGGTTGGCATCTGCTGGGGAAGGGGCTGTGTGACCCAGAGCAGAGTTCTTAGAGGCTTCTGTTTTCCTTCTTCAACTCTCCTGCTCCAGCCTGTCCTCCCACAATGTCTGGCACCTCCTCTCTGCTGAGGGGGTAGCCCTCCGTAGTGCCAAGGAGTTCCTTGTGCAGCAGACACGCTCCATGCGGAGGCGGCAGACAGCTCTGAAAGCTGCCCAGCAGCATTGGCGCCATGAGCTGGCCAGTGCGCAGGAGGTGGCCAAAGACCCACCAGGCATCAAGGCCCTGGAAGATATGCGCAAGAACCTGGAGAAGGTCAGGAGCTTTGGGAAGGGCCTGCCAGCCCTGTGTGGGGGAGGCGGGGGGAGTCAGCAAAACAGTCCTTTGGGCTCCCCCTCAGTTGGTCATTCTCGGGACTCCATGAGAGTGGCCACCTTGGCCCTGGGTCACTTATATTTACTTGGCAATGCATAGTATGCAAACACCTTTTCTAGTAGTAAATAATTTAAACCTCATGATAACACTATTAGTCCATTTTCATGCTGCTGATAAAGACATACCTGAAACTGGGAAGAAAAAGAAAATTGAACTTACAGTTCCACATGGCTGGGGAGGCCTCAGAATCATGGCAGGAGGCGAAAGGCACTTCTTACATGGTGGCAGCAAGAGAAAATGAGGAACAAGCAAAAGCAGAAACCCATCATAAACCCATCAGGATCTCGGGAGACTTATTCACTATCACGAGAACAGTATGGGGGAAATGGCCCCTGTGATTCAAATTATCTCCCACCAGGTCCCTCCCACAACACGTGGAAATTATGGGAGTACAATTCAAGATGAGATTTTGGTGGGGACACAGAGCCAAACCATATCATTCCACCCCTTGCCCCTCCATATCTCATGTCCTCACATTTCAAAACCAATCATGCCTTCCCAACAGTCCTCAAAGTCTTAACTCATTTCAGCATTAACCCAAAAGTCCACAGTCCAGAGTCTCATCTGAGACAAGGCAAGTCCCTTCTGCCTATGAGCCTGTAAAATAAAAAACAAGCTACTGACTTTCTAGATACAGTGGGGATACAGGCATTGGGTAAATACAGCCATTCCAAATGGGAGAAATTGGCCAAAACAAAGGGGTTACAGGGCCCATGCAAGTCTGAAATCCAGTGGGGCAGTCAAATTTTAAAGCTCCAAAATGATCTCCTTTGACTCCATGTCTCACATCCAGGTTACG | CCAGCCTCTGCTTCAGCTCTAGAGGGCTGCAGGCTTGCTGGGGCCAGGGCCGGTGCTGTGCTTGTAACCCTCCTCTTCTCCAAGAGCTGGCTTTAGGGAGCCGATGGTGTCCCTGATCTTACTGATGCAAGGCTGCAGGGCTAGGGGAGCTGTGATTTTTGTGGTAGAAGGGGCTGCCGCAGCTTCCCACCGGTGGGCCCACCCTCCTTGCAGGAGAGGAAGCAGCGGGCTGAGCTTCTGGGGCACCTGACCGGAGAGCTGGAGCGCCTGCAGAGGGCCCATGAACGAGAACTGGAGACTGTGAGGCAGGAGCAACACAAGCGTCTTGAGGACTTGCGGCGCCGGCACAGGGAGCAGGTGAGGGGCCTGGGGCAGGGTGAGCCCACTGTGACCCCTCCATGCACAGTAGGAAGGTGCTGGGAGCAGACGCATGGCCCCAGCAGGATGCAGCCTGACAGCTTCTGGAGTGAGAGTCTCTCACTGGCCATCTCCAAGCTGGGGCATCCTTGTTACTTTGTTTTCTGGGCCAGGGAACACACTCAGGATTAGAACTAGAGGTCAGCCCCTGTAAGGCATTGGGGTTGGCACCTTTGCGTCTCCTTGCCCCAGCAGGAAGTAAACAAGGTGTGGAGCCTTCCTGGGAGGCTGCAGGGGCACACAGCGAGGAAGCCTGAGCCCAGAGTGGAGGTTGTGGTGTGGCATGGTGGGTTCTGGAACCCCCTCCTGCCCCTCAGCTAATGCCTTACACTCTTTCTATGCTTATGTGTTTCCCTTTCTGGGCAGGAAAGGAAGCTCCAGGATTTAGAGTTGGACCTTGAAACCAGAGCTAAAGATGTCAAGGCCAGATTGGCTCTGCTGGAGGTCCAGGTGAGGGATCTGCAGGAGTCCTTGACCTCAGAGTCATAGCTTCTCTAGCAGAGGGCAGGCTCTGCCCCTCAGACCTGGGGTCTGCAGTCAGCCAGAAAATCCTGTCTCTTCCCTGCAAGGAGGAGACCGCCCGGAGGGAGAAGCAGCAGCTGCTTGATGTGCAGAGGCAGGTTGCTCTGAAGAGTGAGGTTTGTCTCCCTGTTTTGTCCTCCCTCCTGTTCTTCCTCCATTTCCTGTCTTTCTTCTCCCTGTTCCCCACATTTTGTTCATCTGATCTGTCCAGGGCACTGGGGTTCCAAACTCTGTTGGCCAGTATTCCACAAATAGTGCCACTCTGTGGACCCCACTTGGGAACCTCAAGGGAGTGGGACTGTGGTAGGACAGGAGCCTGCAGACCTCTTGACCTCAGAGGTGGTGACTTCAGTGGCTCTGAATTCATTCCCAGCCTGTCCTCCTTTGGCTTCCCTACCCTCTCGTGCTGTCTGCTCCCTGGCTTCTCTCTGTGCTGTCTCTGGGTGCTTCTATCTTTCCTTTTGCCCCTAGGAAGCCACAGCCACCCATCAGCAGCTGGAGGAGGCACAGAAGGAGCACACCCACCTGTTGCAGTCAAACCAGCAGCTCCGAGAAATTCTTGATGAGCTGCAGGCCCGCAAGCTGAAGCTGGAGTCCCAAGTGGATCTGCTGCAGGCTCAGAGCCAGCAACTGCAGAAACACTTCAGGTGGCGTGGGCACCCTGCACTTAGCCCTGCTGGCTGCCTCCTGCCTGCCCTCTGACCTCTGCTGCTTGTGTCATGGCCCAGTTAATAGGGAGAGGTGGAGTCCCAGCTTGGGAGCTAGGCAGAAGAGCCTGTGGCTACATTTTGTAGGGAGTTGGGGTTGTTAAGATTCTGTGAAAAGCAGGGGATCTCTGGTGCTATTGTTCGTGCCTGAGCCCTTCCTCAGGGACTTTGACGGATGGGAGTGAGGGGGTGGAGATGGTTCTGACCCACTTCACCCCTCCCCCCCATCGCCAGCCGCTGCCCTGCCTCTCACTCATCTTTCCTTCCACAGCAGCCTGGAGGCTGAAGCTCAAAAGAAGCAGCACCTGTTGAGAGAAGTGACAGTTGAGGAAAATAATGCTTCCCCACATTTTGAGCCAGATCTCCATATTGAGGACCTGAGGAAATCCCTTGGAACAGTGAGCTGGGGGCTGGGGCACCAGGATGGTGTGGGGCATTGGGAGGGGCTGGGCATCAGGGGAGTACTTCCAGAGGGGACAGCTCATCAGGAGGGGTGGAGCCTCAGGAGGGGAGGAGTATAAGGTGGGCCAAGGCATCAGGAAGGGCTGGCTCTGTTCTCTATGGGACCTGGTCTGTTCTTATTCCCAGCTACCAGTCGTCTCCACCAGTCAGATGATATCTATAAGTAAACAGTGCCTGGCAGCTAGAGAGCCATTTCCTTGTCTAGACCACTGGGAGGGGCTTTGGGGTCTTGAACCTGCAGGGTGTCTGCTTTTGCTACACTCAGTGGACTTTTCTACCATGTGTCCCTAGAACCAGACCAAAGAGGTGTCTTCTTCTCTCTCCCAGAGCAAGGAGGACTTATACTTGGACAGGTGAGTTCCCATAGCCTGTCTTATTTGAGGTTAGGGTACCATGAAGGGGTAAGTGAGTACCTGCATCATAGAGCTGGGGTGAGCTGAAGTGAGGAGACGGTGATCACCAGTGGGGCTTAGTTCATGGGGAAGGCTCCGGAGGATTAAGGAATCTTCTCTGGCAAGCCAAGAAACTGCCCACTGTGACCTTTGACATGGCATTCTCCTCTAGTGGAGAAGCAGATTGCTGGAAGTGTTTGGTCATCTATCTGGAGGCCCCAGGCCTGATCCCTCTCAGAGTCAGGGTGGGGGCACTGTCAGTCCCAGGCACTGCGCACTGTGGGTATTGAACAGTGGCATCCCTGCACTCACAGTGCCCAGCCCTAGCCCAGCAGCTCTGGTCTGTGCTCAGGGTTGGCATCTGCTGGGGAAGGGGCTGTGTGACCCAGAGCAGAGTTCTTAGAGGCTTCTGTTTTCCTTCTTCAACTCTCCTGCTCCAGCCTGTCCTCCCACAATGTCTGGCACCTCCTCTCTGCTGAGGGGGTAGCCCTCCGTAGTGCCAAGGAGTTCCTTGTGCAGCAGACACGCTCCATGCGGAGGCGGCAGACAGCTCTGAAAGCTGCCCAGCAGCATTGGCGCCATGAGCTGGCCAGTGCGCAGGAGGTGGCCAAAGACCCACCAGGCATCAAGGCCCTGGAAGATATGCGCAAGAACCTGGAGAAGGTCAGGAGCTTTGGGAAGGGCCTGCCAGCCCTGTGTGGGGGAGGCGGGGGGAGTCAGCAAAACAGTCCTTTGGGCTCCCCCTCAGTTGGTCATTCTCGGGACTCCATGAGAGTGGCCACCTTGGCCCTGGGTCACTTATATTTACTTGGCAATGCATAGTATGCAAACACCTTTTCTAGTAGTAAATAATTTAAACCTCATGATAACACTATTAGTCCATTTTCATGCTGCTGATAAAGACATACCTGAAACTGGGAAGAAAAAGAAAATTGAACTTACAGTTCCACATGGCTGGGGAGGCCTCAGAATCATGGCAGGAGGCGAAAGGCACTTCTTACATGGTGGCAGCAAGAGAAAATGAGGAACAAGCAAAAGCAGAAACCCATCATAAACCCATCAGGATCTCGGGAGACTTATTCACTATCACGAGAACAGTATGGGGGAAATGGCCCCTGTGATTCAAATTATCTCCCACCAGGTCCCTCCCACAACACGTGGAAATTATGGGAGTACAATTCAAGATGAGATTTTGGTGGGGACACAGAGCCAAACCATATCATTCCACCCCTTGCCCCTCCATATCTCATGTCCTCACATTTCAAAACCAATCATGCCTTCCCAACAGTCCTCAAAGTCTTAACTCATTTCAGCATTAACCCAAAAGTCCACAGTCCAGAGTCTCATCTGAGACAAGGCAAGTCCCTTCTGCCTATGAGCCTGTAAAATAAAAAACAAGCTACTGACTTTCTAGATACAGTGGGGATACAGGCATTGGGTAAATACAGCCATTCCAAATGGGAGAAATTGGCCAAAACAAAGGGGTTACAGGGCCCATGCAAGTCTGAAATCCAGTGGGGCAGTCAAATTTTAAAGCTCCAAAATGATCTCCTTTGACTCCATGTCTCACATCCAGGTTACGNNNNNNNNNNNNNN | benign | 188,229 |
Variant in CEP164 (centrosomal protein 164), chromosome 11, position 117409869—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Nephronophthisis_15'] | ACTATAGTAATTTGTTCAAGATCACCCAGTCAGCAAATGGCAGGGTTGGGACTCCAGCGTCTGTGTGGGTAGTCATTTCTCCTCTGTTTTCTCCTTGGCTGCAGGAGACCAGGCACCTGGATGAGATGAAGTCGGCCATGCGGAAAGGCCACAACCTGCTGAAGAAGAAAGAGGAGAAGCTGAATCAGTTGGAGTCCTCTCTTTGGGAAGAGGTGCAGCCCCATGTCCACATAGTCCAGTGGGCCCTGGCCTTCCTCTTCTGTTCTTGGGATTGGGTTGAGTTCTTTGGTCCTGCATCCGGGGGAGTTGGGCCTCTAGGGCCCAGGATTGGGCAGTAGGCTTGTCTACTGGCTGATGAAGGTGGCAGTGGCTTCAATTCTGAGTTTGTTGAAGACACCTGTGGGTTTGGATACCTGTGCTGAATGGTCCGGAATATACCTGGAACCTCTTGCTAAAGGTGCCTGAGAAGAGGGCCAAGCCTTTACCCTGCCCTGGTCCCTAAGGACAGGTGTGACCAGGGTGTCAGGAATGGACACACATGATAGATTTTCCTACCTGCCTTGGGACCTTGTGGACTTTCTCCTAGATGTCTGAGGCTTAGGTGTAGCGGGGGAGGCTTAGGTGGAGTAACACTGCAGGGAGAGCTTACTGGGAAGGGTGGTGGGGGTCTGTGTGGACCTGATGGCACTGTTGTCTCTGTCTCAGGCATTTGGGACATATGCTGAGCCTTGCCTCCCTCCCACCCTGCTGTGAGGCAGCCTGTGTGATTTGCTTCGCCCAGGGTACCTGGTGGAACTCTGGGCCCCAGAGGAGTCTACTCACCAAGTCCTCAGTTCCCACACATCACAAGGGCGACAGCCTACATACCACCTTGAATTTGTAGCAACAAAATTGCTAGGAGAACAAATGGAGATGGCCATATTTCATGGATTTGCGTAAGAAAACCAGCTTAAAGACAAAACATAAAGAAGAACCTAGCTCAGTGTCCCAGCCACTTCCTAGGAAGGAAAAAGGAAGGGTAGAAAGCACGTGGGAGAGGTGGGTCATAACTGCTGACTTTACCCCACAGGCCTCAGATGAGGGCACTCTGGGAGGATCCCCCACCAAGAAGGCAGTAACCTTCGACCTCAGTGACATGGACAGCCTGAGCAGTGAAAGTTCTGAATCTTTTTCCCCGCCTCACCGTGAGTGGTGGCGGCAGCAGAGGAGTGAGTGGGGGAGATGCGGGGTGAGGACCATGGTATCCATGGAATGGGAGGAACTTGGGGAATAGAAGAAGAGCTCTCTTCCCTCAGCCCTGCAGAGGGAGGCCTCTGTGAGCCGGTGTCTGGACTAGGTGCTCGGTCAGTGCTGGGAAGGAATCACACCATCTAGGTTTGCCAGCACGTGGGGCTGAAAGGTCAGGGAAGCCCTCTGAATGCTGCAGAGCACTCTACGGTGTGACCACTGGCCTTGCTGGCCTCTTCTCTTCCAGGGCCTCCTTGAGGAGGCTTTTCTCTCTCAGCTGCCCTGGCCTGTATGTGACAGAAGGGCCCTCTCCCCTTCCTTCTCTCTGGGGTCCTGGGCCCTTCACCCAGCACCTTGCCCTGGAAACCTGTTTCTCATGGCCAGCTTCTCACTTGCACTGTCTGGAACACAGAAGCCCTGCCATCCCTGACCCCCTCATAAGGTTGAGGGGCTGTTGTCTGGAGAAGCAGGGAGGGGTGGCCAGTAGGGTCCTCCATGACAGCTGTGTCTGGGAATGGTCCAGGGTCCTGAGCTTGAGTCCCTTCCCACCATCCACCTCTTTTCTTTCAGTCGACTCAACCCCGAGTCTCACCTCCCGCAAGATCCACGGGCTTAGCCACTCCCTCCGGCAGATCAGCAGCCAGCTGAGCAGTGTCCTCAGCATCCTGGACAGCCTCAACCCTCAGTCGCCGCCGCCGCTCCTCGCCTCCATGCCAGCCCAGCTCCCTCCCCGGGACCCTAAGAGCACCCCCACCCCCACCTACTATGGCTCCCTGGCCAGGTTCTCAGCCTTATCATCTGCTACACCCACGTCCACCCAATGGGCCTGGGATTCAGGGCAGGGGCCCAGGCTCCCCTCCTCTGTGGCTCAAACGGTGGACGACTTCCTGTTGGAGAAGTGGCGCAAGTATTTTCCATGTAAGCCCCACTCTGGGCGGAGCCTTCCCACCTGCCTCCTCCTCCTCCTCTTCCTTCCTTTTCTTCTACCCTCTTTCTCCTGCTCCTTTTCTCCTCTTCCTCTTTTGCATCCCTTTGCCACACCTCTCCTCCCCCAACGTTACCATAGTCCATTGGTCCATTGACTCTACCTGTGGGTCCCTGGGGAAGGAGACATTGCAGGTGGCCCTGCAGCCAGGAGTTCTATGGGTTGGGACGGTTTAGATGGAGCCTGGCTGACTGGGGCCTTTATTGTGGATTCTGGAGCTCAGTAGAACCTAAAAGGTCATTGTCGTCATTATCTTAATAGCTACCATCTTGTGCAATACATGATGGGCCAAGCAGTTTATATATATTTTTTCATTTAGTTCTTAATTCTCTGAGGTAGTAATTATTTATCCCCATTTTACAGATGAGGAAACTGAGTTTCAGAGAGTTTAAGTAGTATGCTCCAGGGTACCCAGTGAGTGAGTAACAAACTCAGTTGTGACCCCATGTCTCTGTGACTCCAGGATTCTGCTTGGAACCTCTTGGCTGTGTGGCTAATTCTTGCTTCTGAGCCAGGTGGCCTCCCCAGGTCTCAGCCCTGCTGAGGATTATGAAAAGCCATAAAACAAGGCATTTGAGGGGAAACAAAATATCTTCTTTTTGCCCTAACCCAAATTGAAAAGTAGATTAAGTTTTAAAAATAAAATAAATAGGACCATTCCTGTCTCTCACCTGTCTCTGGCCTCCAGCCACTGAAGCTTTTCCTTTTATTGTTTATTCTGGGGAGGCAAGAGGTGCTGGTGGGCAGGGTGGTGACCACTGCCCATTTCTGAGTCCTGTCCCCATGCTCTTCCAGCTGGCATCCCGCTGCTCAGCAACAGCCCCACCCCGCTGGAGAGCAGGCTGGGTTACATGTCTGCCAGGTGAGCCTCCCTGGGGGCTGGTTGGGGTGGAACGTCATAGTCGAGCTGCTCACTGTGCCTCCCTGGGCAGGTGGACCTCTGAGGGGAGCAGACCTCCTGGTCTTACCCCAAGAAATCAGGCAGGCCTCTAGTCCACAGAGCTGTCCCCGCTTGCCTGGGTCTGAGGCGCCCCTCCATGACCAGGGGAAAGTCAAGTTCACACCGCCAAGGTCCCAGTGGGGAAGGGCTGGGCTTACCCTGCCAACCCCCTGAGGAAGCTGCCCTCTGGCCCCTGTGGGGAGGAGTCAGCCCCTGGTGGGACCCTGCCCCCGCCCCTCCCTCTAGCCCCTCCAGCCCCGGAGTCTGGCCTTTGTCTTTGCCCTTGAGCTCTTGTTTGCTTCCTGTGGCTCCCTTATTCCCCCAGTCCTGCTGAGCAACATCTGGAGTGAGAGGGACACCCTGTGGAGGAGACAGACGGGCAATTATTTAAACCTGTTATTAATTTTCCATTCATCTCATTCCTTGCCAAATGTTTTCCCCTCTCCCTCCCTTAGGCAGCTAACAGTGAGTACCCCCCACTAACCCTTTGGCCAACTTGAGAGCTGATGCTGGCCAAGGATTGAGTTGACAGAGGGGAGCGCTTTGCTGATGAGATTGGCGGGAGCAGGCGGATGTGGGAGCCCAGAGCCTTGTATCAGTAGCACCCAGCAAGGGGGCAGAGGGCCTCCACCACTTTCCCGTTTGGGAACTGTTCTGGAGGGGCAGATGTTTTGAAGCTTTGAATTGCTAGGGACCTCGGAGAAGCTGCTCTGGTAGCTGAGAGAAAGAGGGAGGAGGTGACAGATGTGATGGCCTCTGTGCATCCTCTGTCACTTCCGCGCCTCCTCTCTCCCCTCGCCATGCTCTCCTCTTCCTTCCCAGTGAGCAGCTCCGGCTCCTACAGCACTCCCATTCGCAAGTCCCTGAGGCGGGCAGCACCACCTTTCAGGGCATAATTGAGGCCAACCGGAGGTGGCTGGAACGTGTCAAGAATGACCCCAGGT | ACTATAGTAATTTGTTCAAGATCACCCAGTCAGCAAATGGCAGGGTTGGGACTCCAGCGTCTGTGTGGGTAGTCATTTCTCCTCTGTTTTCTCCTTGGCTGCAGGAGACCAGGCACCTGGATGAGATGAAGTCGGCCATGCGGAAAGGCCACAACCTGCTGAAGAAGAAAGAGGAGAAGCTGAATCAGTTGGAGTCCTCTCTTTGGGAAGAGGTGCAGCCCCATGTCCACATAGTCCAGTGGGCCCTGGCCTTCCTCTTCTGTTCTTGGGATTGGGTTGAGTTCTTTGGTCCTGCATCCGGGGGAGTTGGGCCTCTAGGGCCCAGGATTGGGCAGTAGGCTTGTCTACTGGCTGATGAAGGTGGCAGTGGCTTCAATTCTGAGTTTGTTGAAGACACCTGTGGGTTTGGATACCTGTGCTGAATGGTCCGGAATATACCTGGAACCTCTTGCTAAAGGTGCCTGAGAAGAGGGCCAAGCCTTTACCCTGCCCTGGTCCCTAAGGACAGGTGTGACCAGGGTGTCAGGAATGGACACACATGATAGATTTTCCTACCTGCCTTGGGACCTTGTGGACTTTCTCCTAGATGTCTGAGGCTTAGGTGTAGCGGGGGAGGCTTAGGTGGAGTAACACTGCAGGGAGAGCTTACTGGGAAGGGTGGTGGGGGTCTGTGTGGACCTGATGGCACTGTTGTCTCTGTCTCAGGCATTTGGGACATATGCTGAGCCTTGCCTCCCTCCCACCCTGCTGTGAGGCAGCCTGTGTGATTTGCTTCGCCCAGGGTACCTGGTGGAACTCTGGGCCCCAGAGGAGTCTACTCACCAAGTCCTCAGTTCCCACACATCACAAGGGCGACAGCCTACATACCACCTTGAATTTGTAGCAACAAAATTGCTAGGAGAACAAATGGAGATGGCCATATTTCATGGATTTGCGTAAGAAAACCAGCTTAAAGACAAAACATAAAGAAGAACCTAGCTCAGTGTCCCAGCCACTTCCTAGGAAGGAAAAAGGAAGGGTAGAAAGCACGTGGGAGAGGTGGGTCATAACTGCTGACTTTACCCCACAGGCCTCAGATGAGGGCACTCTGGGAGGATCCCCCACCAAGAAGGCAGTAACCTTCGACCTCAGTGACATGGACAGCCTGAGCAGTGAAAGTTCTGAATCTTTTTCCCCGCCTCACCGTGAGTGGTGGCGGCAGCAGAGGAGTGAGTGGGGGAGATGCGGGGTGAGGACCATGGTATCCATGGAATGGGAGGAACTTGGGGAATAGAAGAAGAGCTCTCTTCCCTCAGCCCTGCAGAGGGAGGCCTCTGTGAGCCGGTGTCTGGACTAGGTGCTCGGTCAGTGCTGGGAAGGAATCACACCATCTAGGTTTGCCAGCACGTGGGGCTGAAAGGTCAGGGAAGCCCTCTGAATGCTGCAGAGCACTCTACGGTGTGACCACTGGCCTTGCTGGCCTCTTCTCTTCCAGGGCCTCCTTGAGGAGGCTTTTCTCTCTCAGCTGCCCTGGCCTGTATGTGACAGAAGGGCCCTCTCCCCTTCCTTCTCTCTGGGGTCCTGGGCCCTTCACCCAGCACCTTGCCCTGGAAACCTGTTTCTCATGGCCAGCTTCTCACTTGCACTGTCTGGAACACAGAAGCCCTGCCATCCCTGACCCCCTCATAAGGTTGAGGGGCTGTTGTCTGGAGAAGCAGGGAGGGGTGGCCAGTAGGGTCCTCCATGACAGCTGTGTCTGGGAATGGTCCAGGGTCCTGAGCTTGAGTCCCTTCCCACCATCCACCTCTTTTCTTTCAGTCGACTCAACCCCGAGTCTCACCTCCCGCAAGATCCACGGGCTTAGCCACTCCCTCCGGCAGATCAGCAGCCAGCTGAGCAGTGTCCTCAGCATCCTGGACAGCCTCAACCCTCAGTCGCCGCCGCCGCTCCTCGCCTCCATGCCAGCCCAGCTCCCTCCCCGGGACCCTAAGAGCACCCCCACCCCCACCTACTATGGCTCCCTGGCCAGGTTCTCAGCCTTATCATCTGCTACACCCACGTCCACCCAATGGGCCCAGGCTCCCCTCCTCTGTGGCTCAAACGGTGGACGACTTCCTGTTGGAGAAGTGGCGCAAGTATTTTCCATGTAAGCCCCACTCTGGGCGGAGCCTTCCCACCTGCCTCCTCCTCCTCCTCTTCCTTCCTTTTCTTCTACCCTCTTTCTCCTGCTCCTTTTCTCCTCTTCCTCTTTTGCATCCCTTTGCCACACCTCTCCTCCCCCAACGTTACCATAGTCCATTGGTCCATTGACTCTACCTGTGGGTCCCTGGGGAAGGAGACATTGCAGGTGGCCCTGCAGCCAGGAGTTCTATGGGTTGGGACGGTTTAGATGGAGCCTGGCTGACTGGGGCCTTTATTGTGGATTCTGGAGCTCAGTAGAACCTAAAAGGTCATTGTCGTCATTATCTTAATAGCTACCATCTTGTGCAATACATGATGGGCCAAGCAGTTTATATATATTTTTTCATTTAGTTCTTAATTCTCTGAGGTAGTAATTATTTATCCCCATTTTACAGATGAGGAAACTGAGTTTCAGAGAGTTTAAGTAGTATGCTCCAGGGTACCCAGTGAGTGAGTAACAAACTCAGTTGTGACCCCATGTCTCTGTGACTCCAGGATTCTGCTTGGAACCTCTTGGCTGTGTGGCTAATTCTTGCTTCTGAGCCAGGTGGCCTCCCCAGGTCTCAGCCCTGCTGAGGATTATGAAAAGCCATAAAACAAGGCATTTGAGGGGAAACAAAATATCTTCTTTTTGCCCTAACCCAAATTGAAAAGTAGATTAAGTTTTAAAAATAAAATAAATAGGACCATTCCTGTCTCTCACCTGTCTCTGGCCTCCAGCCACTGAAGCTTTTCCTTTTATTGTTTATTCTGGGGAGGCAAGAGGTGCTGGTGGGCAGGGTGGTGACCACTGCCCATTTCTGAGTCCTGTCCCCATGCTCTTCCAGCTGGCATCCCGCTGCTCAGCAACAGCCCCACCCCGCTGGAGAGCAGGCTGGGTTACATGTCTGCCAGGTGAGCCTCCCTGGGGGCTGGTTGGGGTGGAACGTCATAGTCGAGCTGCTCACTGTGCCTCCCTGGGCAGGTGGACCTCTGAGGGGAGCAGACCTCCTGGTCTTACCCCAAGAAATCAGGCAGGCCTCTAGTCCACAGAGCTGTCCCCGCTTGCCTGGGTCTGAGGCGCCCCTCCATGACCAGGGGAAAGTCAAGTTCACACCGCCAAGGTCCCAGTGGGGAAGGGCTGGGCTTACCCTGCCAACCCCCTGAGGAAGCTGCCCTCTGGCCCCTGTGGGGAGGAGTCAGCCCCTGGTGGGACCCTGCCCCCGCCCCTCCCTCTAGCCCCTCCAGCCCCGGAGTCTGGCCTTTGTCTTTGCCCTTGAGCTCTTGTTTGCTTCCTGTGGCTCCCTTATTCCCCCAGTCCTGCTGAGCAACATCTGGAGTGAGAGGGACACCCTGTGGAGGAGACAGACGGGCAATTATTTAAACCTGTTATTAATTTTCCATTCATCTCATTCCTTGCCAAATGTTTTCCCCTCTCCCTCCCTTAGGCAGCTAACAGTGAGTACCCCCCACTAACCCTTTGGCCAACTTGAGAGCTGATGCTGGCCAAGGATTGAGTTGACAGAGGGGAGCGCTTTGCTGATGAGATTGGCGGGAGCAGGCGGATGTGGGAGCCCAGAGCCTTGTATCAGTAGCACCCAGCAAGGGGGCAGAGGGCCTCCACCACTTTCCCGTTTGGGAACTGTTCTGGAGGGGCAGATGTTTTGAAGCTTTGAATTGCTAGGGACCTCGGAGAAGCTGCTCTGGTAGCTGAGAGAAAGAGGGAGGAGGTGACAGATGTGATGGCCTCTGTGCATCCTCTGTCACTTCCGCGCCTCCTCTCTCCCCTCGCCATGCTCTCCTCTTCCTTCCCAGTGAGCAGCTCCGGCTCCTACAGCACTCCCATTCGCAAGTCCCTGAGGCGGGCAGCACCACCTTTCAGGGCATAATTGAGGCCAACCGGAGGTGGCTGGAACGTGTCAAGAATGACCCCAGGTNNNNNNNNNNNNNNNNNNNN | pathogenic | 188,250 |
Does the chromosome 11 mutation at position 118176350 within gene SCN2B (sodium voltage-gated channel beta subunit 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TGGAGTCAACGGTCTCAAGAAAAACTTGAGGGAAGCCCAGTCATTTGAATTGTTTCTGGCTAAAACTAGCCTCATATGCTTCTGCCGTGGGTAGAGCTGGTTGCCCACCTGCCCTTTCTCTTTGCCACCTCCATAGTCATCCCCACAAGCCCAGCCCCGACAGAGTCCCCTCCCTCGTCACTTGTGGCATCCTCCATCCTGGGGATCGATGCTACTGCAACACCACCAAAGTTCCACTGTCAACTCGGCCCTCAGCATTGGAGTGCCAGGGACATGCCTCATTACAGCACCAATCAAGTTCAAGTTCAAGGTCCCCATTCCTGCATCCTCTCCCACTCAGCTTTGCAGAAGCTTTAGCTTCCTCCCACTACCATCTCCCCACCCCAAACACTCAGACCTCTTCATCGCAGACTCCCTCTTCCTCACCCTAGCCCAGAGCTCTGGGTCCTGGTCACTGAGCCCCCTTTCTATCTTTACTTAGCCATGGCTCTCACCAGGCGGCTTCTCTCCTGCACGAAGTGCTTCCTAACTCCTGAGGAAAGGGTCCTGTCCTCCAGCTGGGCCTCCTTACAACAGGCCACTCACCCAACTCCCCTTCTTTCAGCCTGTCCTGAGACTCTGATCAATTAGGTACTGTTAATATAGCAGTGCCATTTCTTGAACATTGGGGAGTGGAATCCAACGTTTAAGAGAATGTGCTGAAGTCAGACACAGGGAGTTCAAATTTCAGCTCCCGTTACCATAGTCATCTGTTTCCTCCCTGTAACCTGAGTATAATAGAATCTACCTCCGATTGCTGTGAGGGCTAAACAAGATACACAGTGCCTGGGCTCACGAAAAGCATTCTTATGTTAGCCATCGTTGAGTTCCTGCCATGCACCAAATCACAAACACGTCAGGCAGTAGGCATTCTTTAGTTTACCCGGGAGGGAACTGAAGCTCAGAGGGGTTGAGTAACTTGCCTGTGATCATTACGTAAATGACAAAGGTGGCTTGAAACCCAGGTCCTGCCAGAGATTCCATAGCATTCCTGCTCTGATGTTAATATGCCAAGTAACTCAGCAAAGCAGGCTGGCAGGGCCTCTGCACTGTCTGTGTTTAGCACTCCTACTCCAAACCCAGCACATCACACCACAGAAAGAGAGAGAGCCTTTGTGGTGGGGAATAGTTCCATCAACAGTCCTTGGACTTGACTCTCAGTTGCTGCTCCAGCAATAAGTAAGTTTAGGAGCAAGAATGAAACTCTACAAAGCAGGCTTGCAAATAACTTTCTAGCCCACTTCCCCACCAGGAAGTCTCTGAGTGGTCAAATACAAACACTTGACAGGACAGTCTGCAAGACTGGGCTGGGCAGTTCTGAGGCTGGATTTAAAGGGCTGCAACCTCGCTCAGCCTGTGGGTTCCATTTTTTTCCTGAATCTCTACACCTGGCCCTTCCTCCATTCCATCCGGCCCAAGCCAAAGGTGCCTTCTCCATCAGTGCGTGCCTCAGCAGGTCTCCTCCCAACCCAGACATCATTCCCCAAGCCCGCTTCCCACCTACTCCCACACACGTTCCAACAGATCAGTGAGACCGAGTGCCAAGAAGCCAGACCCAGACTCAACTTTCTGCCACCAGCTCCCCTGCACACTCTCCTAATACCCTAAATCCACCAGGATCAAGCTTCTGAAAAGAAGCCCCTTAAGGGAGCATTAAGTCCCAGGACCCCGCATTTGCAGCAACTCCAAAAAATAATCCCTGAAGAGACTGCAGGTCAATCCACTCTCTGCCCCACCGCCACGTAGGTCCACTTAGGGGAAATCCAGAGAAGATTCACCTCCCTTGACAATTGTCAGCCCCCAGCAACACTCAGATCCCCTGACCCAACATTTCTGTGACTAAGTAGTCCCAGGGTTCTGCACTCCCCAGCAACGTCCCTTCCAGTCCCCAGCACCTCCCCTCCCAAGGACACAGAGGGAAAGCGCTAGCAATGTCTTCTTTCCTATCCCCTGCCCCCATCCTCTTCACATTGCGGCTACACTTCTGAACCCTCGGGAGCATGCAGATGTGTCTAACTTACCCAAAGAGAAAAAGAGACTGAGCCCCGTGAGGCTGAAGGCAGGGCGAGGTAGCCAGGCATCTCTGTGCATTTTCAGAGACTGAGATGTTAGTCGGGTGGGCTACGGGAGAGGGTGATTTGAGGGGGCGAGAACTACAAGGGAGGAATGGTTGGATGCTAAAAAAAAATGCACGGATGTACTTCAAAGACATATACAACATTAAGGAAGCTTTATTTCCATCTCTCTAATATGGCCGGCTTGTATGTTGCTGCTAAAAAGAGAGAGAGAGGGAGTGTGTAAAGGAGAGAGAGAGAGATGGGGGGGAGAGAAAAGGGGGATGGGGTAAATATTGTGGTTGGTGGATTTCAAAAAGCAGGTGGGAGGGCATAAAAAAGTCATTTTGAAAAGAACAAAATCCCAGAAATTTTTACCCTCTAAAACAAGAAATAATACAAACCCTGCTTTTTGACTTCACTGGGATGATTGTTGGATTTTGAAAGCTATTAGAGGAATCCATTTATTTTAAAGATTCTGGAAAGGGAAACACCTTTTATCATTTAAAAACACCCCCAGGCTGACGCAGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCGGATGGATTGCTTGAGTCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCATCTCTACTAAAAATACAAAATTTAGCCAGGCATAATGTCGCATGCCTCTTGTCCCAGCTACTGCACCGCACTCCAGCCTGGGCCCTGCCTCCAGAGGGAAAAAAAAAAAAAAAACCTAAAAAAAAAAAGGAGATGCTTGTTTTTGTGTTATTGAAAAGGGTTCAGGAAAGTGAGTTGGAGAGACTTTCAAGGGGTAATGCTTTCCTCATTCTAGCGTTTCCTCTGAAAACAGAACATGTTGAAGCAGGCTGATAGAAAAATACCCAAGAGATCTTACAATTGAATGTAACACAGGCCTTTGGATAAACCTGATTCAAACAAATCAACAGGAAAGAAAAGTTTTTGAGACAATTGGGAAAAGTTAAATATGAACTACATAGTAGATTGTATTAATGAATCATTCTTAATTTTGTTGGGTCTGATAAAATGTGGTTTTGTCCTTTAACATCTCTATCTGTTAAAGACACACATGGGTGGCCGGGCGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTCCCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAGTTAGCCGGGTGTGGTGGCGTGTGCCTGTAATCCCAGCTACTTGGGGGGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGTCGAGATCACTCCGCTACATCCCAGCCTGGGCCACAGAGTGAGACTCCATCTCAAAAATACATATATATATATTCAACGAAAAAAAGAGATGGGAGAATAGGTGACACGAGACTAGTTGTTTTGCTTGATAATTGAAACTAGCTGGTGATGGGTGTAAAGGGTTTGTCATATAGTTCTCTCTTCTTTTGTGTATGTTTAAAACTTTTCTTTTGAAGAAGGAAGAAAAAATAAGCTAACGTCATAAGTAGGAGAACTTGGTGGGTGGAGTCCAAGGTGGTCCTAAGCAGAGGTGACCCCCATACTCCTGGGGAGATGGTTAAGTAGGGCAGAGATTCGCATGCAGCAGTCACCTGCATTTGTGATGGGCCCTTTGTGTACCAAACAGGGAGCAACTAATATTTTTGAGCATAAACTCTGTGCCAAGCACTTTACATGTGATATCTCAATTTTTTATTTTTTTATTTTATTATTTTTTTTTAGACAGGGTCTCGCTCTGTCACCCAGGCTGCAGTGCAGTGGTGCAATCTCAGCTCACTGCAATCTCTGCCTTCTGGGTTCAAGCAATTCCTGTGTCTCAGCCTCAAGAGTAGCTGGAACTACATGCACGTGCCACCACCCCCAGCTAATTTTTTTGTATTTTTAGTAGAGGCAGGGTTTCACCATGTTGGCCAGG | TGGAGTCAACGGTCTCAAGAAAAACTTGAGGGAAGCCCAGTCATTTGAATTGTTTCTGGCTAAAACTAGCCTCATATGCTTCTGCCGTGGGTAGAGCTGGTTGCCCACCTGCCCTTTCTCTTTGCCACCTCCATAGTCATCCCCACAAGCCCAGCCCCGACAGAGTCCCCTCCCTCGTCACTTGTGGCATCCTCCATCCTGGGGATCGATGCTACTGCAACACCACCAAAGTTCCACTGTCAACTCGGCCCTCAGCATTGGAGTGCCAGGGACATGCCTCATTACAGCACCAATCAAGTTCAAGTTCAAGGTCCCCATTCCTGCATCCTCTCCCACTCAGCTTTGCAGAAGCTTTAGCTTCCTCCCACTACCATCTCCCCACCCCAAACACTCAGACCTCTTCATCGCAGACTCCCTCTTCCTCACCCTAGCCCAGAGCTCTGGGTCCTGGTCACTGAGCCCCCTTTCTATCTTTACTTAGCCATGGCTCTCACCAGGCGGCTTCTCTCCTGCACGAAGTGCTTCCTAACTCCTGAGGAAAGGGTCCTGTCCTCCAGCTGGGCCTCCTTACAACAGGCCACTCACCCAACTCCCCTTCTTTCAGCCTGTCCTGAGACTCTGATCAATTAGGTACTGTTAATATAGCAGTGCCATTTCTTGAACATTGGGGAGTGGAATCCAACGTTTAAGAGAATGTGCTGAAGTCAGACACAGGGAGTTCAAATTTCAGCTCCCGTTACCATAGTCATCTGTTTCCTCCCTGTAACCTGAGTATAATAGAATCTACCTCCGATTGCTGTGAGGGCTAAACAAGATACACAGTGCCTGGGCTCACGAAAAGCATTCTTATGTTAGCCATCGTTGAGTTCCTGCCATGCACCAAATCACAAACACGTCAGGCAGTAGGCATTCTTTAGTTTACCCGGGAGGGAACTGAAGCTCAGAGGGGTTGAGTAACTTGCCTGTGATCATTACGTAAATGACAAAGGTGGCTTGAAACCCAGGTCCTGCCAGAGATTCCATAGCATTCCTGCTCTGATGTTAATATGCCAAGTAACTCAGCAAAGCAGGCTGGCAGGGCCTCTGCACTGTCTGTGTTTAGCACTCCTACTCCAAACCCAGCACATCACACCACAGAAAGAGAGAGAGCCTTTGTGGTGGGGAATAGTTCCATCAACAGTCCTTGGACTTGACTCTCAGTTGCTGCTCCAGCAATAAGTAAGTTTAGGAGCAAGAATGAAACTCTACAAAGCAGGCTTGCAAATAACTTTCTAGCCCACTTCCCCACCAGGAAGTCTCTGAGTGGTCAAATACAAACACTTGACAGGACAGTCTGCAAGACTGGGCTGGGCAGTTCTGAGGCTGGATTTAAAGGGCTGCAACCTCGCTCAGCCTGTGGGTTCCATTTTTTTCCTGAATCTCTACACCTGGCCCTTCCTCCATTCCATCCGGCCCAAGCCAAAGGTGCCTTCTCCATCAGTGCGTGCCTCAGCAGGTCTCCTCCCAACCCAGACATCATTCCCCAAGCCCGCTTCCCACCTACTCCCACACACGTTCCAACAGATCAGTGAGACCGAGTGCCAAGAAGCCAGACCCAGACTCAACTTTCTGCCACCAGCTCCCCTGCACACTCTCCTAATACCCTAAATCCACCAGGATCAAGCTTCTGAAAAGAAGCCCCTTAAGGGAGCATTAAGTCCCAGGACCCCGCATTTGCAGCAACTCCAAAAAATAATCCCTGAAGAGACTGCAGGTCAATCCACTCTCTGCCCCACCGCCACGTAGGTCCACTTAGGGGAAATCCAGAGAAGATTCACCTCCCTTGACAATTGTCAGCCCCCAGCAACACTCAGATCCCCTGACCCAACATTTCTGTGACTAAGTAGTCCCAGGGTTCTGCACTCCCCAGCAACGTCCCTTCCAGTCCCCAGCACCTCCCCTCCCAAGGACACAGAGGGAAAGCGCTAGCAATGTCTTCTTTCCTATCCCCTGCCCCCATCCTCTTCACATTGCGGCTACACTTCTGAACCCTCGGGAGCATGCAGATGTGAGTCTAACTTACCCAAAGAGAAAAAGAGACTGAGCCCCGTGAGGCTGAAGGCAGGGCGAGGTAGCCAGGCATCTCTGTGCATTTTCAGAGACTGAGATGTTAGTCGGGTGGGCTACGGGAGAGGGTGATTTGAGGGGGCGAGAACTACAAGGGAGGAATGGTTGGATGCTAAAAAAAAATGCACGGATGTACTTCAAAGACATATACAACATTAAGGAAGCTTTATTTCCATCTCTCTAATATGGCCGGCTTGTATGTTGCTGCTAAAAAGAGAGAGAGAGGGAGTGTGTAAAGGAGAGAGAGAGAGATGGGGGGGAGAGAAAAGGGGGATGGGGTAAATATTGTGGTTGGTGGATTTCAAAAAGCAGGTGGGAGGGCATAAAAAAGTCATTTTGAAAAGAACAAAATCCCAGAAATTTTTACCCTCTAAAACAAGAAATAATACAAACCCTGCTTTTTGACTTCACTGGGATGATTGTTGGATTTTGAAAGCTATTAGAGGAATCCATTTATTTTAAAGATTCTGGAAAGGGAAACACCTTTTATCATTTAAAAACACCCCCAGGCTGACGCAGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCGGATGGATTGCTTGAGTCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCATCTCTACTAAAAATACAAAATTTAGCCAGGCATAATGTCGCATGCCTCTTGTCCCAGCTACTGCACCGCACTCCAGCCTGGGCCCTGCCTCCAGAGGGAAAAAAAAAAAAAAAACCTAAAAAAAAAAAGGAGATGCTTGTTTTTGTGTTATTGAAAAGGGTTCAGGAAAGTGAGTTGGAGAGACTTTCAAGGGGTAATGCTTTCCTCATTCTAGCGTTTCCTCTGAAAACAGAACATGTTGAAGCAGGCTGATAGAAAAATACCCAAGAGATCTTACAATTGAATGTAACACAGGCCTTTGGATAAACCTGATTCAAACAAATCAACAGGAAAGAAAAGTTTTTGAGACAATTGGGAAAAGTTAAATATGAACTACATAGTAGATTGTATTAATGAATCATTCTTAATTTTGTTGGGTCTGATAAAATGTGGTTTTGTCCTTTAACATCTCTATCTGTTAAAGACACACATGGGTGGCCGGGCGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTCCCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAGTTAGCCGGGTGTGGTGGCGTGTGCCTGTAATCCCAGCTACTTGGGGGGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGTCGAGATCACTCCGCTACATCCCAGCCTGGGCCACAGAGTGAGACTCCATCTCAAAAATACATATATATATATTCAACGAAAAAAAGAGATGGGAGAATAGGTGACACGAGACTAGTTGTTTTGCTTGATAATTGAAACTAGCTGGTGATGGGTGTAAAGGGTTTGTCATATAGTTCTCTCTTCTTTTGTGTATGTTTAAAACTTTTCTTTTGAAGAAGGAAGAAAAAATAAGCTAACGTCATAAGTAGGAGAACTTGGTGGGTGGAGTCCAAGGTGGTCCTAAGCAGAGGTGACCCCCATACTCCTGGGGAGATGGTTAAGTAGGGCAGAGATTCGCATGCAGCAGTCACCTGCATTTGTGATGGGCCCTTTGTGTACCAAACAGGGAGCAACTAATATTTTTGAGCATAAACTCTGTGCCAAGCACTTTACATGTGATATCTCAATTTTTTATTTTTTTATTTTATTATTTTTTTTTAGACAGGGTCTCGCTCTGTCACCCAGGCTGCAGTGCAGTGGTGCAATCTCAGCTCACTGCAATCTCTGCCTTCTGGGTTCAAGCAATTCCTGTGTCTCAGCCTCAAGAGTAGCTGGAACTACATGCACGTGCCACCACCCCCAGCTAATTTTTTTGTATTTTTAGTAGAGGCAGGGTTTCACCATGTTGGCCA | benign | 188,462 |
Assess the variant on chromosome 11, position 118260174, impacting MPZL2 (myelin protein zero like 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hearing_loss,_autosomal_recessive_111'] | CATATACGAAAACGAACTCAAAGATCTAAATGTAAAAATTAAGACTATAAAACTCTTAGAAGAAAACATAGCCATAAATCTTCATGATCTTGGGGATTAGGCAGTGGTTTTTTAGATGAGACACAAAAGCACTAGCAGCAAAAGAGAAAAAATAAACTGGACTTCATCAAAATTTAACTTTTGTTCTTCAAAGGACACTATGAAGAACATGAAAAGACAACCCACAGAATGGGAAAAAAATTGCAAGTTGTATATCTGATAAGGAACTAGTATCCCTTAAATAACTCTTACAGTTCAACAAGAATAAGTGAAATAATGTACCCCATATTAAAATGGGCAAACTCTGAATGTATGCATCTCCAAATAAGATATACAAATGGACAATAAGAACATGGGAAGATGCTCAACATCAAGTCATTAGAAAAATGCAAATCAAAACCCCAATGAGATACCACTTCACATCCACTAGATGGCTTCATATAGTTTGGGTATTTGTCCCCGCCCAAATCTCATGTTGAATTGTAATCTGCATTGCTAGAGGTGGGGCCTGGTGGAGGGTGTTTGGGTCATGGGAGCAGATCTCTCATGGCTTGGTGCTGTCTTCAATAGTGAGTGAGTTCTCACAAAATCTGGTCATATAAAACTATGTAGCACCTCCCCCCAACTCTCTCACTTTCTCCTGCTCTCACCATGCAAAATTCCTGCTCCCATTGTGCCTTCTGCCATCGGTAAAAGCTCCCTGAGGCCTCCTCAGGAGCCAACCAACATCGGCGCCATGCTTGTACATCCACAGAACCGTGAGCCAATTAAATCTCTTTATAAATTACCCAGTCTTAGGGGTTTTTTTATATAGCAACACAAGAATGGCCTAATACACGGTTATGATTAAAAAAAAAAAAGACAATGAGTGTTGAGGAGGATGGGGAGAAATCAGAACCCTCATATATTGCTGACAGGAATGCAAAATAGTCCAGCTGTTTAAAGACAGTCTGGCAATTCCTCCAAAAACTAAACAGAGTTACCATAAGACCCAACAATTCCACTTTTAGGAGAATTAAAAACATATGATCTACACAAAAGCTTGTAAATGAATGTTTATAGCAGCATTAGTCACAACAGCCAACAAGCAGAAAAAACCTAAATGCCCATCAATTGAATGGACAAACAATATGTGGTATATTCATACAATGGAATATTATGCAGTCATAAAAAGGAAAGAAATACTAATACATCAACAAGGATGAGCCTTGAAAGCATTATGCTAAGTGAAAGAAGCTGGGCATAAAAGACCACATATTGTATGATTCTATTTAAATGAAATGTCCAGAATAAGCAAATCCATAGAGACAGAAAGTAGATGAGTAGTTGTCGGGGGCTGGTAGGAGGGGATAATAGGGAGTGATAGCTAGGGATATGGGGTTTCTTTACGGGAGGGAGCTTAAAAACGTTCTGCAATTAGTGATGATTGCTGCACAACTTTGTGAAAATGAAAAAGGTAAATTTTATGGTGGGTAAATTTTATCTCAATTTTAAAATACATTTAATGAACACCTGCTATCAGCACAACAGACTTTCCTAAGCCCTGACTCATAGTGGCCCTGCTGACTGCCTAGCCCAGTGGTTTTTACAAATGTATGCTTCACTTTAAACATAAGGGATTTTTTAGAAAAGCTTTACATAGCACATTTTTGTAAAATCAACCCCCCCACATAGTAAAGAAATCCCATAAGGAAATATTTTGTAAAATTAAGAAAGCTTTTGTAAAGTTACTAGTTCATACCTGATTTATCTGTCCTGCAAATGTGAATTCTTTTATATAGGATTTACTTAAAGGGAAAAACATCTGTTCAGCAACTATTTAGCCCACTGCAAAATACCAAGAGTCGCCATAAGAGTGTTAGAACTTTCCCAGAACTGCCCAGCCTTACGATTTTATCTCCACCACTTTATGAGCTCTTTCGGCCCATCGCTTTTTCCGGTAATGCTGGAAGAGGACCACTACAATTACTATTATGATCATCAGTGCACAGGCAGAGCCAATGGCCAGAGCCAGGAAGTGGATCTCAGAGAAGCGTACTGTAAGGAGAAAAAGATTAAATTAGGATTCTAAAAAGAAGAGGACTACAATGAAATCTAATGACATAATAGGGATGCATTTAATCAATAGATGGAATCTTCCTTTATCCTACCTTTATGCATAAAATAATATATTACCTTGTGAATCCTACTAGCAATAGGAAAACCATACACATACTTTAATGGTTCTCAAAGTGTGGTCTTCGAAGTAACAGCAACAATATCACTTGAGAACATGGAAATCTTAGGCCCCACCCCAGACCTACTGAATTAGAAACACTAGAGGTGCGGCTGAGCAATCTGTGTCTTAACAGGTCCTCCAGGTGATTCTGATGCAGCTTTGAAAACCACTGGGTGGGTTGAACTACTTATGGGGTAAGGTTTTTGCTAACCTCATCAAACGTAGTGCCCAACCCATTTCTCCCTGACTTCTCACCACTTTCACTCAGTCAGTTATTTATTCAGATTTATTAAGGGCCTACTACATTCCTGGCACTGTGATAGAAATGCTGAGCCAAAAAAGACATCACCTTCAAGGAGCTCATGCCACTGAGAGGATAGGAAAGTAAATCAGAAGCTACAGTCTAGTGGATAAATGATGGAAAAGGGAAACCAGAGGGAAGGTCCCCTAAGCCACACTAGAGTCTGTGAACCCTGGTTTTCTTGTCCTTTAGCTTTATTTCTGATTATACTTCCATAAGCCCTCAGAGCCAGAAAGGACATTAGAGAATGTCTAGCCCAGGATTCCCAGCCTTGACTCCATGAAGGAGGATGGGGAAGAGGATGGAAGGTAGTCTGCAAGCCCACAGAATCCAAGTCTCATTTTGTATGTCTCCACTGTTTTATGGGAAGCAGGGCCATGGCTTTTATTTGATTCTCAAAGAATAATTATCCACATATATTTAAGAACCACTGATTTTTTGTGTGTTTAACCTCTTCATTGTGCAGATGAAGAAACTGAGGTCCAAAACCATTACATTATTTCTTTCAATACTCAAATGACTTCTGCAAGGTCACACAGCCCTCTATTGGTGGGGCATTGAGAAATGGTTTTAAACTGTACTATGAATGAAAGGAAATCGTACCACTGCACAGGCTTATATGTTTGGAGTAGTGTTGGTTAAGAGCACACACCAGAGAGCACTAGGTTGAAATACTTAGCTGTGTGATTTGAAGTAATTAACTTCTTTGAGCCTCAGTTTCCTCATGTATAAACAGAGATAATGATATTCATTTCTTGAGTTCTTAATAAAAAATAAAATAATTCATGTAAGTTGTTCCTTGCTGTGCCTGTACAAAATAAACACTCAATGTATGGTAGCTGTTAAGTACAATTCAGAGGTTGGGACATATTCACATTTATTATCTCATTTTATCCTCACTGTGATCCTTACTGTGTTATTCTCACTTTACAGATGAGGAAAATAAGACTTATTGATAGCTGGTAAATGGTAGCAATGACTCAAACCCAGATCTACAATTCATAAGTTTCGTGTACTTTGCTCTTTGTTGCTTGGCATGGTTTTCCAGATTGTCCTTTATAGGGATGCAGACAATACAATGCACCAATTTAGAGCACAGTTTTAGATTCAAAGTTGATTGGGTTTGAGTCCTAAGTTACTCCATTTATCAGCTACGTGACTCAGGGCAAATGACTTAACCTCTGTGAGCCTCGTTTCCTCATTGGCAAGATGGGAGGCATTAAATGCACAATAAACTGATGAGATATGTAAAGATTAAATAAAATGTGTCATGTAAAGCCCCTGACATTTGGGAAGTACTCAGTAAGTGTTAGCTCCCATCATTAGTACCTGCCTCCTAGAGTGGTGTGGGGATTCAATGAGATAGTGTATGTCATGCACTTTTGACGGTGCCTAGCATTAGAGTAGGTACTCAATAAGTATCTCGAATAAATGAGTGAGTGAACAGACCTGTTGTAAGCCTTTCATCAAAGAATTGCTCCCTCTCCCTTTCACAATCTCAATGCCATTTTTGTAACGGATTCTCTGAGTTCCTTTGC | CATATACGAAAACGAACTCAAAGATCTAAATGTAAAAATTAAGACTATAAAACTCTTAGAAGAAAACATAGCCATAAATCTTCATGATCTTGGGGATTAGGCAGTGGTTTTTTAGATGAGACACAAAAGCACTAGCAGCAAAAGAGAAAAAATAAACTGGACTTCATCAAAATTTAACTTTTGTTCTTCAAAGGACACTATGAAGAACATGAAAAGACAACCCACAGAATGGGAAAAAAATTGCAAGTTGTATATCTGATAAGGAACTAGTATCCCTTAAATAACTCTTACAGTTCAACAAGAATAAGTGAAATAATGTACCCCATATTAAAATGGGCAAACTCTGAATGTATGCATCTCCAAATAAGATATACAAATGGACAATAAGAACATGGGAAGATGCTCAACATCAAGTCATTAGAAAAATGCAAATCAAAACCCCAATGAGATACCACTTCACATCCACTAGATGGCTTCATATAGTTTGGGTATTTGTCCCCGCCCAAATCTCATGTTGAATTGTAATCTGCATTGCTAGAGGTGGGGCCTGGTGGAGGGTGTTTGGGTCATGGGAGCAGATCTCTCATGGCTTGGTGCTGTCTTCAATAGTGAGTGAGTTCTCACAAAATCTGGTCATATAAAACTATGTAGCACCTCCCCCCAACTCTCTCACTTTCTCCTGCTCTCACCATGCAAAATTCCTGCTCCCATTGTGCCTTCTGCCATCGGTAAAAGCTCCCTGAGGCCTCCTCAGGAGCCAACCAACATCGGCGCCATGCTTGTACATCCACAGAACCGTGAGCCAATTAAATCTCTTTATAAATTACCCAGTCTTAGGGGTTTTTTTATATAGCAACACAAGAATGGCCTAATACACGGTTATGATTAAAAAAAAAAAAGACAATGAGTGTTGAGGAGGATGGGGAGAAATCAGAACCCTCATATATTGCTGACAGGAATGCAAAATAGTCCAGCTGTTTAAAGACAGTCTGGCAATTCCTCCAAAAACTAAACAGAGTTACCATAAGACCCAACAATTCCACTTTTAGGAGAATTAAAAACATATGATCTACACAAAAGCTTGTAAATGAATGTTTATAGCAGCATTAGTCACAACAGCCAACAAGCAGAAAAAACCTAAATGCCCATCAATTGAATGGACAAACAATATGTGGTATATTCATACAATGGAATATTATGCAGTCATAAAAAGGAAAGAAATACTAATACATCAACAAGGATGAGCCTTGAAAGCATTATGCTAAGTGAAAGAAGCTGGGCATAAAAGACCACATATTGTATGATTCTATTTAAATGAAATGTCCAGAATAAGCAAATCCATAGAGACAGAAAGTAGATGAGTAGTTGTCGGGGGCTGGTAGGAGGGGATAATAGGGAGTGATAGCTAGGGATATGGGGTTTCTTTACGGGAGGGAGCTTAAAAACGTTCTGCAATTAGTGATGATTGCTGCACAACTTTGTGAAAATGAAAAAGGTAAATTTTATGGTGGGTAAATTTTATCTCAATTTTAAAATACATTTAATGAACACCTGCTATCAGCACAACAGACTTTCCTAAGCCCTGACTCATAGTGGCCCTGCTGACTGCCTAGCCCAGTGGTTTTTACAAATGTATGCTTCACTTTAAACATAAGGGATTTTTTAGAAAAGCTTTACATAGCACATTTTTGTAAAATCAACCCCCCCACATAGTAAAGAAATCCCATAAGGAAATATTTTGTAAAATTAAGAAAGCTTTTGTAAAGTTACTAGTTCATACCTGATTTATCTGTCCTGCAAATGTGAATTCTTTTATATAGGATTTACTTAAAGGGAAAAACATCTGTTCAGCAACTATTTAGCCCACTGCAAAATACCAAGAGTCGCCATAAGAGTGTTAGAACTTTCCCAGAACTGCCCAGCCTTACGATTTTATCTCCACCACTTTATGAGCTCTTTCGGCCCATCGCTTTTTCCGGTAATGCTGGAAGAGGACCACTACAATTACTATTATGATCATCAGTGCACAGGCAGAGCCAATGGCCAGAGCAGGAAGTGGATCTCAGAGAAGCGTACTGTAAGGAGAAAAAGATTAAATTAGGATTCTAAAAAGAAGAGGACTACAATGAAATCTAATGACATAATAGGGATGCATTTAATCAATAGATGGAATCTTCCTTTATCCTACCTTTATGCATAAAATAATATATTACCTTGTGAATCCTACTAGCAATAGGAAAACCATACACATACTTTAATGGTTCTCAAAGTGTGGTCTTCGAAGTAACAGCAACAATATCACTTGAGAACATGGAAATCTTAGGCCCCACCCCAGACCTACTGAATTAGAAACACTAGAGGTGCGGCTGAGCAATCTGTGTCTTAACAGGTCCTCCAGGTGATTCTGATGCAGCTTTGAAAACCACTGGGTGGGTTGAACTACTTATGGGGTAAGGTTTTTGCTAACCTCATCAAACGTAGTGCCCAACCCATTTCTCCCTGACTTCTCACCACTTTCACTCAGTCAGTTATTTATTCAGATTTATTAAGGGCCTACTACATTCCTGGCACTGTGATAGAAATGCTGAGCCAAAAAAGACATCACCTTCAAGGAGCTCATGCCACTGAGAGGATAGGAAAGTAAATCAGAAGCTACAGTCTAGTGGATAAATGATGGAAAAGGGAAACCAGAGGGAAGGTCCCCTAAGCCACACTAGAGTCTGTGAACCCTGGTTTTCTTGTCCTTTAGCTTTATTTCTGATTATACTTCCATAAGCCCTCAGAGCCAGAAAGGACATTAGAGAATGTCTAGCCCAGGATTCCCAGCCTTGACTCCATGAAGGAGGATGGGGAAGAGGATGGAAGGTAGTCTGCAAGCCCACAGAATCCAAGTCTCATTTTGTATGTCTCCACTGTTTTATGGGAAGCAGGGCCATGGCTTTTATTTGATTCTCAAAGAATAATTATCCACATATATTTAAGAACCACTGATTTTTTGTGTGTTTAACCTCTTCATTGTGCAGATGAAGAAACTGAGGTCCAAAACCATTACATTATTTCTTTCAATACTCAAATGACTTCTGCAAGGTCACACAGCCCTCTATTGGTGGGGCATTGAGAAATGGTTTTAAACTGTACTATGAATGAAAGGAAATCGTACCACTGCACAGGCTTATATGTTTGGAGTAGTGTTGGTTAAGAGCACACACCAGAGAGCACTAGGTTGAAATACTTAGCTGTGTGATTTGAAGTAATTAACTTCTTTGAGCCTCAGTTTCCTCATGTATAAACAGAGATAATGATATTCATTTCTTGAGTTCTTAATAAAAAATAAAATAATTCATGTAAGTTGTTCCTTGCTGTGCCTGTACAAAATAAACACTCAATGTATGGTAGCTGTTAAGTACAATTCAGAGGTTGGGACATATTCACATTTATTATCTCATTTTATCCTCACTGTGATCCTTACTGTGTTATTCTCACTTTACAGATGAGGAAAATAAGACTTATTGATAGCTGGTAAATGGTAGCAATGACTCAAACCCAGATCTACAATTCATAAGTTTCGTGTACTTTGCTCTTTGTTGCTTGGCATGGTTTTCCAGATTGTCCTTTATAGGGATGCAGACAATACAATGCACCAATTTAGAGCACAGTTTTAGATTCAAAGTTGATTGGGTTTGAGTCCTAAGTTACTCCATTTATCAGCTACGTGACTCAGGGCAAATGACTTAACCTCTGTGAGCCTCGTTTCCTCATTGGCAAGATGGGAGGCATTAAATGCACAATAAACTGATGAGATATGTAAAGATTAAATAAAATGTGTCATGTAAAGCCCCTGACATTTGGGAAGTACTCAGTAAGTGTTAGCTCCCATCATTAGTACCTGCCTCCTAGAGTGGTGTGGGGATTCAATGAGATAGTGTATGTCATGCACTTTTGACGGTGCCTAGCATTAGAGTAGGTACTCAATAAGTATCTCGAATAAATGAGTGAGTGAACAGACCTGTTGTAAGCCTTTCATCAAAGAATTGCTCCCTCTCCCTTTCACAATCTCAATGCCATTTTTGTAACGGATTCTCTGAGTTCCTTTGCN | pathogenic | 188,467 |
For chromosome 11, position 118263083, gene MPZL2 (myelin protein zero like 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hearing_loss,_autosomal_recessive', 'Hearing_loss,_autosomal_recessive_111', 'MPZL2-related_disorder'] | TCCACTGTTTTATGGGAAGCAGGGCCATGGCTTTTATTTGATTCTCAAAGAATAATTATCCACATATATTTAAGAACCACTGATTTTTTGTGTGTTTAACCTCTTCATTGTGCAGATGAAGAAACTGAGGTCCAAAACCATTACATTATTTCTTTCAATACTCAAATGACTTCTGCAAGGTCACACAGCCCTCTATTGGTGGGGCATTGAGAAATGGTTTTAAACTGTACTATGAATGAAAGGAAATCGTACCACTGCACAGGCTTATATGTTTGGAGTAGTGTTGGTTAAGAGCACACACCAGAGAGCACTAGGTTGAAATACTTAGCTGTGTGATTTGAAGTAATTAACTTCTTTGAGCCTCAGTTTCCTCATGTATAAACAGAGATAATGATATTCATTTCTTGAGTTCTTAATAAAAAATAAAATAATTCATGTAAGTTGTTCCTTGCTGTGCCTGTACAAAATAAACACTCAATGTATGGTAGCTGTTAAGTACAATTCAGAGGTTGGGACATATTCACATTTATTATCTCATTTTATCCTCACTGTGATCCTTACTGTGTTATTCTCACTTTACAGATGAGGAAAATAAGACTTATTGATAGCTGGTAAATGGTAGCAATGACTCAAACCCAGATCTACAATTCATAAGTTTCGTGTACTTTGCTCTTTGTTGCTTGGCATGGTTTTCCAGATTGTCCTTTATAGGGATGCAGACAATACAATGCACCAATTTAGAGCACAGTTTTAGATTCAAAGTTGATTGGGTTTGAGTCCTAAGTTACTCCATTTATCAGCTACGTGACTCAGGGCAAATGACTTAACCTCTGTGAGCCTCGTTTCCTCATTGGCAAGATGGGAGGCATTAAATGCACAATAAACTGATGAGATATGTAAAGATTAAATAAAATGTGTCATGTAAAGCCCCTGACATTTGGGAAGTACTCAGTAAGTGTTAGCTCCCATCATTAGTACCTGCCTCCTAGAGTGGTGTGGGGATTCAATGAGATAGTGTATGTCATGCACTTTTGACGGTGCCTAGCATTAGAGTAGGTACTCAATAAGTATCTCGAATAAATGAGTGAGTGAACAGACCTGTTGTAAGCCTTTCATCAAAGAATTGCTCCCTCTCCCTTTCACAATCTCAATGCCATTTTTGTAACGGATTCTCTGAGTTCCTTTGCTTTACTTTCTGTTTCTTTCCACAGCCAAACAAAGCCTTTCTCTTTTTACCCCAGAACTCTTCGGTCTCCCTCTGAGGCTCCCAGTTCTGAAGGGCTAGTCCCTCTCTCTATCCATCACAAAAGATTGTCCCTCTCTCTCAGCCTTAACAAAGATTGCCCCTTTCTTTTCTACAAGCTCTCATCCTTTCCAAAACCACTGTTCCCTGCATAACCTACCAGTGTGCACGACGCTGAGCCGGATCTCCCCTATCACCCCATCAACATCAGGTGGGTTCTTCACCTGGCAGGTGTATGTCCCATTGTCGTCGAACTGCAGTTTCCAGAGAAGGATGGAGGCATCGTACCGCTCAGGATTCCCATCCCAAGACACCCGGTCCTTAAACCGCCCACTCATGGGTTGGAAGGGATCTATGTGGTAGTAGAATACCTAGAGAGGGGAAATGGCAAAAGGTCTTCTTACTCAGCACCCAGGCAAGGAGGCCAAGATGGTGGGAGCGGAAGTGAAACACCAGCAAACCCAACTGTCCTGTCTGCAGCTCTGTCACTTGCTTTCCCCTTCAACGGCCTCTCAGTCTCTGTCCCAAGAATTGTTTCCGAGCTTAACCTTGTGCTTGCTGCTAAGAAAAATACTGGAAGGGAAAGGAGAAATGGACTGGCTTATTATTTCCCTAAACAAGAGTACCCTGGAAAATGATGATAATCTACTTACAAACTGCTCAGGTCCCCCGTCTAGAGGACGAAAATTCCAGGTCACTGTTAGAGCATCACCCACAGGGGCAAAGCTGGAGAAAGTGCATTTTAACCGAGCATCTGTCCCATTAACAGCCTCCAGCACCCGGGAGGTATAAATTTCCACAGCTGCTATAGGCCAAAGAGCTGCAATGAAAAAGAAGAAAAAGAAGGGTTAACAGGGGATGTAGTATTGTGAGAACTTCTGCTGACACTTCCAAAATAAATATCTGAGTAGGACTTAAAGTAAAGTGAAACTGAGATGCCCCATCTCCCAAACTTACTTCACCCAGAATCTACATACTCCTACCTGTATGCAGCCTGGACCCTCCCATTCCATGTGACAACTAAACTACCACACAGCAAGCCTTCGCAGTGCTTTTACTTTCTCCACAGCATTAAAGCCTCGCCTCGTGGTACTGACTTCAAAACTGTTATAACAAACTACAAACATCCGCAAATAGAATTGAAAGCATAAACAAAAAATTAAAATGAATCATAACATTGATTAGACATTACATTATGTATTAAGGTTAAGCATTATGTGTTGTATGTAAAGTGGTCTCCTAGCAGGTAAGTTTTCCAGATGGGTCCTTAGGTGGATTTCATACTGTTACTAGTCTATTGCAGAAACTGAATTAATCAACTCCAGACAGCTTATGTTTGCCTGCACCCCTAGAACCTTTGTACCACGTGGCATTTTTTTAAACTTGATATTTACATTTAGAATGTGTGTGTTGGGGCACTTTCAAAATCACAGTAGGTCTCTCTCTAACAATCTCCACTTTCCTGGTGTTGCTGAGAGTCACAGACAAGACCCACACACAGAAATCCAAATGCCAAGTCCTGCCAGCAGTGGGAGGTTGAGAACAGCCACACACAAAAAAATGGCATGTAACCTGAGATTAGAAAGCCCTCTCTGTGCCTGAATCACTGGCAGCTGAACACACCTAAACCTGTTTGTCCGAGAGCAGTTCTCCAAAAACAGTCCACCAACTTTGGTTTCAGTAAAACCCAAAGTAAAACAAACTGTATCTGTGGCTCAGGCTCCCAAACAAAAGTCTTGCAACTTCTAAGACAATTAGCTAACTTTATAGAGTGAGCAGTGAAGGAGGAAACTCTGAGAGAAGCCCGCCGGCTCTTACCTGTGAGCTGTATGCCAAGGAGAAGAAGCACCGCACGAGTAGAGCTCTTGCCATACATGAGGGAAACCCAGCCTTGGCCCCAGAGACCGGACGGGGCAGACCGAGGGCTCCAACACCCTGCCAAGGCCACTCCGGGAGGAGCAAGCACCGCGTTTTCCCAGAGAGAGGAGTTTGAGTTGAGTTCCTCACCTGTGCCTGTGACTCAGCCCGCTCTGCCTGTGCACTTTTCTGAAATGAAAGGTGGGGCCTCAGCTCCCAATGCCCTCCTTCCTTTCCTCTCTCCCGCCCTCTACACGAACGAGCATGAGCACGTCTGCACAAAGGTCCCAAACTCCCGCAGTCCTCTCTTTACTTTCAGTTAATCTGACTGGGCTCTGGCCTCTAGATGGCCTCGGAAACAGCCAGAGGAGGTGGTGCCAGTCTGAAATGTCCCAGACTGTTATGGGTTTGGCCCCCACACGCCCTTTTAAAACAGGCTTTAGGCTTGCCTGGGAAGTGAATGTTGAAACTGTCCTGCAGTGATTCCACTTCTCAAAGCACCACCCCAGGGCCACATTCACTTGGGACTGGATTCGATACAATTTCAAAACGGGAGTCGGAATTCCTTAGGACCCTCTGTGGACAAAAAGCTGATACCCCTGTTACCACAAGGATTCCTGCACTTCTTCTAGTTTGTAGCTTTCCAGGAGACCTGGCAGAAACAACAAATCAAATCTCCATGCTTAACAATCCTTTACCTTTGAAGACTTTAAAAACAAATGAGGACACCATCCCTGCTCATTCACCCTGCCATCCGAGTGCAATCTACAAAGTGCTCTCCTGCTGATTGTTTCATCTCCATTAACGCCCTTGTGAAGCATTCCCATTCTACCAGTGAGGACGCTAAGAACCCGAGGAAGGTAAATGATTTGCCCAAGGTTGCACAGCTACCATGTGGCAAAACCAGAACTTTTCTTAAAAATCTAGCGTTCTTTCCACCAAATAACAGCTAATATGAACAATCAGACATGGGGCTCTCAAGGAAAAGGTTTTCAT | TCCACTGTTTTATGGGAAGCAGGGCCATGGCTTTTATTTGATTCTCAAAGAATAATTATCCACATATATTTAAGAACCACTGATTTTTTGTGTGTTTAACCTCTTCATTGTGCAGATGAAGAAACTGAGGTCCAAAACCATTACATTATTTCTTTCAATACTCAAATGACTTCTGCAAGGTCACACAGCCCTCTATTGGTGGGGCATTGAGAAATGGTTTTAAACTGTACTATGAATGAAAGGAAATCGTACCACTGCACAGGCTTATATGTTTGGAGTAGTGTTGGTTAAGAGCACACACCAGAGAGCACTAGGTTGAAATACTTAGCTGTGTGATTTGAAGTAATTAACTTCTTTGAGCCTCAGTTTCCTCATGTATAAACAGAGATAATGATATTCATTTCTTGAGTTCTTAATAAAAAATAAAATAATTCATGTAAGTTGTTCCTTGCTGTGCCTGTACAAAATAAACACTCAATGTATGGTAGCTGTTAAGTACAATTCAGAGGTTGGGACATATTCACATTTATTATCTCATTTTATCCTCACTGTGATCCTTACTGTGTTATTCTCACTTTACAGATGAGGAAAATAAGACTTATTGATAGCTGGTAAATGGTAGCAATGACTCAAACCCAGATCTACAATTCATAAGTTTCGTGTACTTTGCTCTTTGTTGCTTGGCATGGTTTTCCAGATTGTCCTTTATAGGGATGCAGACAATACAATGCACCAATTTAGAGCACAGTTTTAGATTCAAAGTTGATTGGGTTTGAGTCCTAAGTTACTCCATTTATCAGCTACGTGACTCAGGGCAAATGACTTAACCTCTGTGAGCCTCGTTTCCTCATTGGCAAGATGGGAGGCATTAAATGCACAATAAACTGATGAGATATGTAAAGATTAAATAAAATGTGTCATGTAAAGCCCCTGACATTTGGGAAGTACTCAGTAAGTGTTAGCTCCCATCATTAGTACCTGCCTCCTAGAGTGGTGTGGGGATTCAATGAGATAGTGTATGTCATGCACTTTTGACGGTGCCTAGCATTAGAGTAGGTACTCAATAAGTATCTCGAATAAATGAGTGAGTGAACAGACCTGTTGTAAGCCTTTCATCAAAGAATTGCTCCCTCTCCCTTTCACAATCTCAATGCCATTTTTGTAACGGATTCTCTGAGTTCCTTTGCTTTACTTTCTGTTTCTTTCCACAGCCAAACAAAGCCTTTCTCTTTTTACCCCAGAACTCTTCGGTCTCCCTCTGAGGCTCCCAGTTCTGAAGGGCTAGTCCCTCTCTCTATCCATCACAAAAGATTGTCCCTCTCTCTCAGCCTTAACAAAGATTGCCCCTTTCTTTTCTACAAGCTCTCATCCTTTCCAAAACCACTGTTCCCTGCATAACCTACCAGTGTGCACGACGCTGAGCCGGATCTCCCCTATCACCCCATCAACATCAGGTGGGTTCTTCACCTGGCAGGTGTATGTCCCATTGTCGTCGAACTGCAGTTTCCAGAGAAGGATGGAGGCATCGTACCGCTCAGGATTCCCATCCCAAGACACCCGGTCCTTAAACCGCCCACTCATGGGTTGGAAGGGATCTATGTGGTAGTAGAATACCTAGAGAGGGGAAATGGCAAAAGGTCTTCTTACTCAGCACCCAGGCAAGGAGGCCAAGATGGTGGGAGCGGAAGTGAAACACCAGCAAACCCAACTGTCCTGTCTGCAGCTCTGTCACTTGCTTTCCCCTTCAACGGCCTCTCAGTCTCTGTCCCAAGAATTGTTTCCGAGCTTAACCTTGTGCTTGCTGCTAAGAAAAATACTGGAAGGGAAAGGAGAAATGGACTGGCTTATTATTTCCCTAAACAAGAGTACCCTGGAAAATGATGATAATCTACTTACAAACTGCTCAGGTCCCCCGTCTAGAGGACGAAAATTCCAGGTCACTGTTAGAGCATCACCCACAGGGGCAAAGCTGGAGAAAGTGCATTTTAACCGAGCATCTGTCCCATTAACAGCCTCCAGCACCCGGGAGGTATAAATTTCCACAGCTGCATAGGCCAAAGAGCTGCAATGAAAAAGAAGAAAAAGAAGGGTTAACAGGGGATGTAGTATTGTGAGAACTTCTGCTGACACTTCCAAAATAAATATCTGAGTAGGACTTAAAGTAAAGTGAAACTGAGATGCCCCATCTCCCAAACTTACTTCACCCAGAATCTACATACTCCTACCTGTATGCAGCCTGGACCCTCCCATTCCATGTGACAACTAAACTACCACACAGCAAGCCTTCGCAGTGCTTTTACTTTCTCCACAGCATTAAAGCCTCGCCTCGTGGTACTGACTTCAAAACTGTTATAACAAACTACAAACATCCGCAAATAGAATTGAAAGCATAAACAAAAAATTAAAATGAATCATAACATTGATTAGACATTACATTATGTATTAAGGTTAAGCATTATGTGTTGTATGTAAAGTGGTCTCCTAGCAGGTAAGTTTTCCAGATGGGTCCTTAGGTGGATTTCATACTGTTACTAGTCTATTGCAGAAACTGAATTAATCAACTCCAGACAGCTTATGTTTGCCTGCACCCCTAGAACCTTTGTACCACGTGGCATTTTTTTAAACTTGATATTTACATTTAGAATGTGTGTGTTGGGGCACTTTCAAAATCACAGTAGGTCTCTCTCTAACAATCTCCACTTTCCTGGTGTTGCTGAGAGTCACAGACAAGACCCACACACAGAAATCCAAATGCCAAGTCCTGCCAGCAGTGGGAGGTTGAGAACAGCCACACACAAAAAAATGGCATGTAACCTGAGATTAGAAAGCCCTCTCTGTGCCTGAATCACTGGCAGCTGAACACACCTAAACCTGTTTGTCCGAGAGCAGTTCTCCAAAAACAGTCCACCAACTTTGGTTTCAGTAAAACCCAAAGTAAAACAAACTGTATCTGTGGCTCAGGCTCCCAAACAAAAGTCTTGCAACTTCTAAGACAATTAGCTAACTTTATAGAGTGAGCAGTGAAGGAGGAAACTCTGAGAGAAGCCCGCCGGCTCTTACCTGTGAGCTGTATGCCAAGGAGAAGAAGCACCGCACGAGTAGAGCTCTTGCCATACATGAGGGAAACCCAGCCTTGGCCCCAGAGACCGGACGGGGCAGACCGAGGGCTCCAACACCCTGCCAAGGCCACTCCGGGAGGAGCAAGCACCGCGTTTTCCCAGAGAGAGGAGTTTGAGTTGAGTTCCTCACCTGTGCCTGTGACTCAGCCCGCTCTGCCTGTGCACTTTTCTGAAATGAAAGGTGGGGCCTCAGCTCCCAATGCCCTCCTTCCTTTCCTCTCTCCCGCCCTCTACACGAACGAGCATGAGCACGTCTGCACAAAGGTCCCAAACTCCCGCAGTCCTCTCTTTACTTTCAGTTAATCTGACTGGGCTCTGGCCTCTAGATGGCCTCGGAAACAGCCAGAGGAGGTGGTGCCAGTCTGAAATGTCCCAGACTGTTATGGGTTTGGCCCCCACACGCCCTTTTAAAACAGGCTTTAGGCTTGCCTGGGAAGTGAATGTTGAAACTGTCCTGCAGTGATTCCACTTCTCAAAGCACCACCCCAGGGCCACATTCACTTGGGACTGGATTCGATACAATTTCAAAACGGGAGTCGGAATTCCTTAGGACCCTCTGTGGACAAAAAGCTGATACCCCTGTTACCACAAGGATTCCTGCACTTCTTCTAGTTTGTAGCTTTCCAGGAGACCTGGCAGAAACAACAAATCAAATCTCCATGCTTAACAATCCTTTACCTTTGAAGACTTTAAAAACAAATGAGGACACCATCCCTGCTCATTCACCCTGCCATCCGAGTGCAATCTACAAAGTGCTCTCCTGCTGATTGTTTCATCTCCATTAACGCCCTTGTGAAGCATTCCCATTCTACCAGTGAGGACGCTAAGAACCCGAGGAAGGTAAATGATTTGCCCAAGGTTGCACAGCTACCATGTGGCAAAACCAGAACTTTTCTTAAAAATCTAGCGTTCTTTCCACCAAATAACAGCTAATATGAACAATCAGACATGGGGCTCTCAAGGAAAAGGTTTTCATN | pathogenic | 188,470 |
Evaluate the clinical significance of the mutation at chromosome 11, position 118263087 in gene MPZL2 (myelin protein zero like 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hearing_loss,_autosomal_recessive_111'] | CTGTTTTATGGGAAGCAGGGCCATGGCTTTTATTTGATTCTCAAAGAATAATTATCCACATATATTTAAGAACCACTGATTTTTTGTGTGTTTAACCTCTTCATTGTGCAGATGAAGAAACTGAGGTCCAAAACCATTACATTATTTCTTTCAATACTCAAATGACTTCTGCAAGGTCACACAGCCCTCTATTGGTGGGGCATTGAGAAATGGTTTTAAACTGTACTATGAATGAAAGGAAATCGTACCACTGCACAGGCTTATATGTTTGGAGTAGTGTTGGTTAAGAGCACACACCAGAGAGCACTAGGTTGAAATACTTAGCTGTGTGATTTGAAGTAATTAACTTCTTTGAGCCTCAGTTTCCTCATGTATAAACAGAGATAATGATATTCATTTCTTGAGTTCTTAATAAAAAATAAAATAATTCATGTAAGTTGTTCCTTGCTGTGCCTGTACAAAATAAACACTCAATGTATGGTAGCTGTTAAGTACAATTCAGAGGTTGGGACATATTCACATTTATTATCTCATTTTATCCTCACTGTGATCCTTACTGTGTTATTCTCACTTTACAGATGAGGAAAATAAGACTTATTGATAGCTGGTAAATGGTAGCAATGACTCAAACCCAGATCTACAATTCATAAGTTTCGTGTACTTTGCTCTTTGTTGCTTGGCATGGTTTTCCAGATTGTCCTTTATAGGGATGCAGACAATACAATGCACCAATTTAGAGCACAGTTTTAGATTCAAAGTTGATTGGGTTTGAGTCCTAAGTTACTCCATTTATCAGCTACGTGACTCAGGGCAAATGACTTAACCTCTGTGAGCCTCGTTTCCTCATTGGCAAGATGGGAGGCATTAAATGCACAATAAACTGATGAGATATGTAAAGATTAAATAAAATGTGTCATGTAAAGCCCCTGACATTTGGGAAGTACTCAGTAAGTGTTAGCTCCCATCATTAGTACCTGCCTCCTAGAGTGGTGTGGGGATTCAATGAGATAGTGTATGTCATGCACTTTTGACGGTGCCTAGCATTAGAGTAGGTACTCAATAAGTATCTCGAATAAATGAGTGAGTGAACAGACCTGTTGTAAGCCTTTCATCAAAGAATTGCTCCCTCTCCCTTTCACAATCTCAATGCCATTTTTGTAACGGATTCTCTGAGTTCCTTTGCTTTACTTTCTGTTTCTTTCCACAGCCAAACAAAGCCTTTCTCTTTTTACCCCAGAACTCTTCGGTCTCCCTCTGAGGCTCCCAGTTCTGAAGGGCTAGTCCCTCTCTCTATCCATCACAAAAGATTGTCCCTCTCTCTCAGCCTTAACAAAGATTGCCCCTTTCTTTTCTACAAGCTCTCATCCTTTCCAAAACCACTGTTCCCTGCATAACCTACCAGTGTGCACGACGCTGAGCCGGATCTCCCCTATCACCCCATCAACATCAGGTGGGTTCTTCACCTGGCAGGTGTATGTCCCATTGTCGTCGAACTGCAGTTTCCAGAGAAGGATGGAGGCATCGTACCGCTCAGGATTCCCATCCCAAGACACCCGGTCCTTAAACCGCCCACTCATGGGTTGGAAGGGATCTATGTGGTAGTAGAATACCTAGAGAGGGGAAATGGCAAAAGGTCTTCTTACTCAGCACCCAGGCAAGGAGGCCAAGATGGTGGGAGCGGAAGTGAAACACCAGCAAACCCAACTGTCCTGTCTGCAGCTCTGTCACTTGCTTTCCCCTTCAACGGCCTCTCAGTCTCTGTCCCAAGAATTGTTTCCGAGCTTAACCTTGTGCTTGCTGCTAAGAAAAATACTGGAAGGGAAAGGAGAAATGGACTGGCTTATTATTTCCCTAAACAAGAGTACCCTGGAAAATGATGATAATCTACTTACAAACTGCTCAGGTCCCCCGTCTAGAGGACGAAAATTCCAGGTCACTGTTAGAGCATCACCCACAGGGGCAAAGCTGGAGAAAGTGCATTTTAACCGAGCATCTGTCCCATTAACAGCCTCCAGCACCCGGGAGGTATAAATTTCCACAGCTGCTATAGGCCAAAGAGCTGCAATGAAAAAGAAGAAAAAGAAGGGTTAACAGGGGATGTAGTATTGTGAGAACTTCTGCTGACACTTCCAAAATAAATATCTGAGTAGGACTTAAAGTAAAGTGAAACTGAGATGCCCCATCTCCCAAACTTACTTCACCCAGAATCTACATACTCCTACCTGTATGCAGCCTGGACCCTCCCATTCCATGTGACAACTAAACTACCACACAGCAAGCCTTCGCAGTGCTTTTACTTTCTCCACAGCATTAAAGCCTCGCCTCGTGGTACTGACTTCAAAACTGTTATAACAAACTACAAACATCCGCAAATAGAATTGAAAGCATAAACAAAAAATTAAAATGAATCATAACATTGATTAGACATTACATTATGTATTAAGGTTAAGCATTATGTGTTGTATGTAAAGTGGTCTCCTAGCAGGTAAGTTTTCCAGATGGGTCCTTAGGTGGATTTCATACTGTTACTAGTCTATTGCAGAAACTGAATTAATCAACTCCAGACAGCTTATGTTTGCCTGCACCCCTAGAACCTTTGTACCACGTGGCATTTTTTTAAACTTGATATTTACATTTAGAATGTGTGTGTTGGGGCACTTTCAAAATCACAGTAGGTCTCTCTCTAACAATCTCCACTTTCCTGGTGTTGCTGAGAGTCACAGACAAGACCCACACACAGAAATCCAAATGCCAAGTCCTGCCAGCAGTGGGAGGTTGAGAACAGCCACACACAAAAAAATGGCATGTAACCTGAGATTAGAAAGCCCTCTCTGTGCCTGAATCACTGGCAGCTGAACACACCTAAACCTGTTTGTCCGAGAGCAGTTCTCCAAAAACAGTCCACCAACTTTGGTTTCAGTAAAACCCAAAGTAAAACAAACTGTATCTGTGGCTCAGGCTCCCAAACAAAAGTCTTGCAACTTCTAAGACAATTAGCTAACTTTATAGAGTGAGCAGTGAAGGAGGAAACTCTGAGAGAAGCCCGCCGGCTCTTACCTGTGAGCTGTATGCCAAGGAGAAGAAGCACCGCACGAGTAGAGCTCTTGCCATACATGAGGGAAACCCAGCCTTGGCCCCAGAGACCGGACGGGGCAGACCGAGGGCTCCAACACCCTGCCAAGGCCACTCCGGGAGGAGCAAGCACCGCGTTTTCCCAGAGAGAGGAGTTTGAGTTGAGTTCCTCACCTGTGCCTGTGACTCAGCCCGCTCTGCCTGTGCACTTTTCTGAAATGAAAGGTGGGGCCTCAGCTCCCAATGCCCTCCTTCCTTTCCTCTCTCCCGCCCTCTACACGAACGAGCATGAGCACGTCTGCACAAAGGTCCCAAACTCCCGCAGTCCTCTCTTTACTTTCAGTTAATCTGACTGGGCTCTGGCCTCTAGATGGCCTCGGAAACAGCCAGAGGAGGTGGTGCCAGTCTGAAATGTCCCAGACTGTTATGGGTTTGGCCCCCACACGCCCTTTTAAAACAGGCTTTAGGCTTGCCTGGGAAGTGAATGTTGAAACTGTCCTGCAGTGATTCCACTTCTCAAAGCACCACCCCAGGGCCACATTCACTTGGGACTGGATTCGATACAATTTCAAAACGGGAGTCGGAATTCCTTAGGACCCTCTGTGGACAAAAAGCTGATACCCCTGTTACCACAAGGATTCCTGCACTTCTTCTAGTTTGTAGCTTTCCAGGAGACCTGGCAGAAACAACAAATCAAATCTCCATGCTTAACAATCCTTTACCTTTGAAGACTTTAAAAACAAATGAGGACACCATCCCTGCTCATTCACCCTGCCATCCGAGTGCAATCTACAAAGTGCTCTCCTGCTGATTGTTTCATCTCCATTAACGCCCTTGTGAAGCATTCCCATTCTACCAGTGAGGACGCTAAGAACCCGAGGAAGGTAAATGATTTGCCCAAGGTTGCACAGCTACCATGTGGCAAAACCAGAACTTTTCTTAAAAATCTAGCGTTCTTTCCACCAAATAACAGCTAATATGAACAATCAGACATGGGGCTCTCAAGGAAAAGGTTTTCATGATA | CTGTTTTATGGGAAGCAGGGCCATGGCTTTTATTTGATTCTCAAAGAATAATTATCCACATATATTTAAGAACCACTGATTTTTTGTGTGTTTAACCTCTTCATTGTGCAGATGAAGAAACTGAGGTCCAAAACCATTACATTATTTCTTTCAATACTCAAATGACTTCTGCAAGGTCACACAGCCCTCTATTGGTGGGGCATTGAGAAATGGTTTTAAACTGTACTATGAATGAAAGGAAATCGTACCACTGCACAGGCTTATATGTTTGGAGTAGTGTTGGTTAAGAGCACACACCAGAGAGCACTAGGTTGAAATACTTAGCTGTGTGATTTGAAGTAATTAACTTCTTTGAGCCTCAGTTTCCTCATGTATAAACAGAGATAATGATATTCATTTCTTGAGTTCTTAATAAAAAATAAAATAATTCATGTAAGTTGTTCCTTGCTGTGCCTGTACAAAATAAACACTCAATGTATGGTAGCTGTTAAGTACAATTCAGAGGTTGGGACATATTCACATTTATTATCTCATTTTATCCTCACTGTGATCCTTACTGTGTTATTCTCACTTTACAGATGAGGAAAATAAGACTTATTGATAGCTGGTAAATGGTAGCAATGACTCAAACCCAGATCTACAATTCATAAGTTTCGTGTACTTTGCTCTTTGTTGCTTGGCATGGTTTTCCAGATTGTCCTTTATAGGGATGCAGACAATACAATGCACCAATTTAGAGCACAGTTTTAGATTCAAAGTTGATTGGGTTTGAGTCCTAAGTTACTCCATTTATCAGCTACGTGACTCAGGGCAAATGACTTAACCTCTGTGAGCCTCGTTTCCTCATTGGCAAGATGGGAGGCATTAAATGCACAATAAACTGATGAGATATGTAAAGATTAAATAAAATGTGTCATGTAAAGCCCCTGACATTTGGGAAGTACTCAGTAAGTGTTAGCTCCCATCATTAGTACCTGCCTCCTAGAGTGGTGTGGGGATTCAATGAGATAGTGTATGTCATGCACTTTTGACGGTGCCTAGCATTAGAGTAGGTACTCAATAAGTATCTCGAATAAATGAGTGAGTGAACAGACCTGTTGTAAGCCTTTCATCAAAGAATTGCTCCCTCTCCCTTTCACAATCTCAATGCCATTTTTGTAACGGATTCTCTGAGTTCCTTTGCTTTACTTTCTGTTTCTTTCCACAGCCAAACAAAGCCTTTCTCTTTTTACCCCAGAACTCTTCGGTCTCCCTCTGAGGCTCCCAGTTCTGAAGGGCTAGTCCCTCTCTCTATCCATCACAAAAGATTGTCCCTCTCTCTCAGCCTTAACAAAGATTGCCCCTTTCTTTTCTACAAGCTCTCATCCTTTCCAAAACCACTGTTCCCTGCATAACCTACCAGTGTGCACGACGCTGAGCCGGATCTCCCCTATCACCCCATCAACATCAGGTGGGTTCTTCACCTGGCAGGTGTATGTCCCATTGTCGTCGAACTGCAGTTTCCAGAGAAGGATGGAGGCATCGTACCGCTCAGGATTCCCATCCCAAGACACCCGGTCCTTAAACCGCCCACTCATGGGTTGGAAGGGATCTATGTGGTAGTAGAATACCTAGAGAGGGGAAATGGCAAAAGGTCTTCTTACTCAGCACCCAGGCAAGGAGGCCAAGATGGTGGGAGCGGAAGTGAAACACCAGCAAACCCAACTGTCCTGTCTGCAGCTCTGTCACTTGCTTTCCCCTTCAACGGCCTCTCAGTCTCTGTCCCAAGAATTGTTTCCGAGCTTAACCTTGTGCTTGCTGCTAAGAAAAATACTGGAAGGGAAAGGAGAAATGGACTGGCTTATTATTTCCCTAAACAAGAGTACCCTGGAAAATGATGATAATCTACTTACAAACTGCTCAGGTCCCCCGTCTAGAGGACGAAAATTCCAGGTCACTGTTAGAGCATCACCCACAGGGGCAAAGCTGGAGAAAGTGCATTTTAACCGAGCATCTGTCCCATTAACAGCCTCCAGCACCCGGGAGGTATAAATTTCCACAGCTGCTATAGCCAAAGAGCTGCAATGAAAAAGAAGAAAAAGAAGGGTTAACAGGGGATGTAGTATTGTGAGAACTTCTGCTGACACTTCCAAAATAAATATCTGAGTAGGACTTAAAGTAAAGTGAAACTGAGATGCCCCATCTCCCAAACTTACTTCACCCAGAATCTACATACTCCTACCTGTATGCAGCCTGGACCCTCCCATTCCATGTGACAACTAAACTACCACACAGCAAGCCTTCGCAGTGCTTTTACTTTCTCCACAGCATTAAAGCCTCGCCTCGTGGTACTGACTTCAAAACTGTTATAACAAACTACAAACATCCGCAAATAGAATTGAAAGCATAAACAAAAAATTAAAATGAATCATAACATTGATTAGACATTACATTATGTATTAAGGTTAAGCATTATGTGTTGTATGTAAAGTGGTCTCCTAGCAGGTAAGTTTTCCAGATGGGTCCTTAGGTGGATTTCATACTGTTACTAGTCTATTGCAGAAACTGAATTAATCAACTCCAGACAGCTTATGTTTGCCTGCACCCCTAGAACCTTTGTACCACGTGGCATTTTTTTAAACTTGATATTTACATTTAGAATGTGTGTGTTGGGGCACTTTCAAAATCACAGTAGGTCTCTCTCTAACAATCTCCACTTTCCTGGTGTTGCTGAGAGTCACAGACAAGACCCACACACAGAAATCCAAATGCCAAGTCCTGCCAGCAGTGGGAGGTTGAGAACAGCCACACACAAAAAAATGGCATGTAACCTGAGATTAGAAAGCCCTCTCTGTGCCTGAATCACTGGCAGCTGAACACACCTAAACCTGTTTGTCCGAGAGCAGTTCTCCAAAAACAGTCCACCAACTTTGGTTTCAGTAAAACCCAAAGTAAAACAAACTGTATCTGTGGCTCAGGCTCCCAAACAAAAGTCTTGCAACTTCTAAGACAATTAGCTAACTTTATAGAGTGAGCAGTGAAGGAGGAAACTCTGAGAGAAGCCCGCCGGCTCTTACCTGTGAGCTGTATGCCAAGGAGAAGAAGCACCGCACGAGTAGAGCTCTTGCCATACATGAGGGAAACCCAGCCTTGGCCCCAGAGACCGGACGGGGCAGACCGAGGGCTCCAACACCCTGCCAAGGCCACTCCGGGAGGAGCAAGCACCGCGTTTTCCCAGAGAGAGGAGTTTGAGTTGAGTTCCTCACCTGTGCCTGTGACTCAGCCCGCTCTGCCTGTGCACTTTTCTGAAATGAAAGGTGGGGCCTCAGCTCCCAATGCCCTCCTTCCTTTCCTCTCTCCCGCCCTCTACACGAACGAGCATGAGCACGTCTGCACAAAGGTCCCAAACTCCCGCAGTCCTCTCTTTACTTTCAGTTAATCTGACTGGGCTCTGGCCTCTAGATGGCCTCGGAAACAGCCAGAGGAGGTGGTGCCAGTCTGAAATGTCCCAGACTGTTATGGGTTTGGCCCCCACACGCCCTTTTAAAACAGGCTTTAGGCTTGCCTGGGAAGTGAATGTTGAAACTGTCCTGCAGTGATTCCACTTCTCAAAGCACCACCCCAGGGCCACATTCACTTGGGACTGGATTCGATACAATTTCAAAACGGGAGTCGGAATTCCTTAGGACCCTCTGTGGACAAAAAGCTGATACCCCTGTTACCACAAGGATTCCTGCACTTCTTCTAGTTTGTAGCTTTCCAGGAGACCTGGCAGAAACAACAAATCAAATCTCCATGCTTAACAATCCTTTACCTTTGAAGACTTTAAAAACAAATGAGGACACCATCCCTGCTCATTCACCCTGCCATCCGAGTGCAATCTACAAAGTGCTCTCCTGCTGATTGTTTCATCTCCATTAACGCCCTTGTGAAGCATTCCCATTCTACCAGTGAGGACGCTAAGAACCCGAGGAAGGTAAATGATTTGCCCAAGGTTGCACAGCTACCATGTGGCAAAACCAGAACTTTTCTTAAAAATCTAGCGTTCTTTCCACCAAATAACAGCTAATATGAACAATCAGACATGGGGCTCTCAAGGAAAAGGTTTTCATGATAN | pathogenic | 188,471 |
Mutation at chromosome 11, position 118312642, within CD3E (CD3 epsilon subunit of T-cell receptor complex): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Immunodeficiency_18'] | CATTTCTGTCTAAGCACAGACATCTAGACCCTTGTGTGAGCATGAGTTAAGTCTAAGCTCTGCTACTGAATTTGTGCCAATAAAAGTTGTGAGCAATTTTCTTTACATTTTTTTCAAACAAACACACCCAGCAGAGTATAATGTCTATGTACTTTATTTATGATTTCTAGTTCATTTAACATGTCTAAGAAACATCCGTGTTGAAAAATTATTTATAAATTAAAATAATATAAACTATCTACTGTCCTTATACTCAACTCCCAATTATAAGCAGGTGGAAAAACCTGGAGAATGTTTTGTTTACATTCTGTGCAGTCTTTGTCAGAGGGCTGCCTGAGCAACTGGGTCAGAGTTTAGTTCTGCTCTGGGAGTAGCAGGACCTCAAGAAGGAAAGGAGGAAAGGAAGTAACTTTTTCTTGAGCACCTGCTATGTGTCATTCACTTTCACCTTCATAATCCATTTAATTTTCGCAAAAACTTTGTGAGGTTGGTGTTTTATCTCCATTTCCCTGATAAAGAAGTTGAGGTTCAGCAAAGTTAAATGACTTGCCCTCAGTCACACAGACTAGGGCAGATCCAGGATTCAAACTCAGGGCTTCTGACTCTTGAGTCCAGAGCTCTGTCCCTGACAGCAGCAGCACTGCCTCTCCTCTCTTCCAGCTGTTATGTCCAGACTGTAGCAGAACCCAGTGTTCCAGCCACAAGTTTTCCAGGAAATAATAAAGGACTCCTAGCTCCACCTCCCAGGGCAAAAATGGCTGCTGTGGGAAACACAGGCTGGACCTACGAATGGCATTAGTGGTTTATTAGTTGATTTCAGTTGTCCACACTAATAGGCCTCCCTCTAACAAAAATAATTGAGAGCTGATTATGCTCAGATATAATGTAAAGTGAAGCCACTTTTTATTGGAAGAAGCATTCCCTCAAAACGTGTAGAGTATTTCACATTATTTAAAGGCAAATAGAGAGAAAATTATATGGAATAAGAACAAAGATGTTTCTTCTCTATTATGAGGGACTCAGTTCTGAGAAAGGATTTTAAATTGTAAGAAATAGGTAAGTCCACGAATCAGTGATTCAGTGGTGTGGAGAGCTTTATTTCTGAGAAGGCCAGTAGCGCTCCCTTCTGACAAGCAAATCTAAGACCTGGATGACAGATGACTTCCTGCATTTGGTTGGTTCTTTTGTCATTCATATCTATCTGTAATACAGTTCTGGCTAATTTAAGAGGATAAGCTTGAAGACCTCTGGAATTTTTCGGCTTTAGGACTTTAAGGCTTTCTGAGCTTCAGTAGATCTAGATCTAGGAGCTCATGCTGGTATATTCTGAATCCGATGTATCTGAGTTACATCTATGAGCTACTTAATAAATATATCTATGAGCTAAATCTCATAGGCTAAGCATGAACCTCACCTCCAAGACTCGGGGTTCCTAAATGGATGAGACCCTCTTTGGGAAGTCTTGTGGGCAGTGTCTAATTCCACTAGAAAAGTTTTACCTACAATTTAAACTTAAACCATGATATTTTCTTACTGCTGTTTCCTTTTTTCATTTTCAGGTGGTATTACACAGACACGTGAGTTTATTGGTCTTTTATTTATGCCCTGTCTGAGGATGCAGATTGGTGGGTAGATGAGAAGGAACTGATTGAGAGAGATTAACCCCAAGAACTGATATCTTCCCAGCATTGCATTCTCAACTCCATTTTAGAAAGGTTCCAAATAGGGACTTCTGTGGGTTTTTCTTTACATCCATCTTACCCTTCCCAAGTCCCCATGTCCCTGCGTAAACCCTAAAGCCACCTCTCAAAAGGTTCTCTAGTTCCCTTCAAGGTTCTCTAGTTCCCTTCATTCCACATATCTCCTCTTCCACACCCTCTAGCCAGTAGAGCTCCCTTCTGACAAGCAAGTCTAAGATCTAGATGACAGATGACTTCCTGCATTTGGGTGGTTCTTTTGTCACTAATTTGCCTTTTCTAAAATTGTCCTGGTTTCTTCTGCCAATTTCCCTTCTTTCTCCCCAGCATATAAAGTCTCCATCTCTGGAACCACAGTAATATTGACATGCCCTCAGTATCCTGGATCTGAAATACTATGGCAACACAATGATAAAAACATAGGCGGTGATGAGGATGATAAAAACATAGGCAGTGATGAGGATCACCTGTCACTGAAGGAATTTTCAGAATTGGAGCAAAGTGGTTATTATGTCTGCTACCCCAGAGGAAGCAAACCAGAAGATGCGAACTTTTATCTCTACCTGAGGGCAAGAGGTAATCCAGGTCTCCAGAACAGGTACCACCGGCTCTTTAGGGAGGACCATTCAAAAGGGCATTCTCAGTGATTTTCCCTAACCCAGCTCACAGTGCCCAGGCGTCTTTGCGCTTCCTCCCACACTCAATCCTGGGACTCTCTGGTACCACACGGCATCAGTGTTTTCTGGAATATAGATTAAACACCAATATGAGGCTTCTGGGTAACCCCAGTCTGTGCGAGATCTAAAATAGCAACTCCCTAAGAGACAGGACTGGGTCATTTGCACCGCATCACACCCAGGTTCATAGCACACCAACATGAGTTTATCTAATGCTTCCTCCAGAGATAAATTTTTCAGAAAGGTTTGCAAAAAACACTCAAGGCCACTATAGTAAAATGGCATAAGCTAAGGTATAATAATAAAATAATAACAATACTTAACATTTATTGAGTGCTTATTAAGTCTCAAGCACTGTCTGTACCCAACACTTATCAAGGATTCTTTTTCATGTAATCCTCTCAACAACTATATGGGTTAAGTATCATTTTATTCCCATGAGTAAAGGGATGAGGAAACAGAGGGTTTGTGAGTTGAAAACACATTTCACGCTTCTCACAGCTAGTGAGTAATAAAGCTGGGACTCAAACCCAGGGCTGTTTGACTCCAGTGCCTCTACCCACGGCCACCACTCTTTGCTTGTCAATGTTGTTCTAAACATATTGAAGGGGGGGCTCTGACCGTGGCAAGCGTGTGAGTAGTAAGGGGAGAATGGCCTTCATGCACTCCCTCCTCACCTCCAGCGCCTTGTGTTTTCCTTGCTTAGTGATTTCCCCTCTCCCCACCCCACCCCCCACAGTGTGTGAGAACTGCATGGAGATGGATGTGATGTCGGTGGCCACAATTGTCATAGTGGACATCTGCATCACTGGGGGCTTGCTGCTGCTGGTTTACTACTGGAGCAAGAATAGAAAGGCCAAGGCCAAGCCTGTGACACGAGGAGCGGGTGCTGGCGGCAGGCAAAGGGGTAAGGCTGTGGAGTCCAGTCAGAGGAGATTCCTGCCAAGGGGGACGACCAGCCTGGGCCAGGGTGGGTGGCAAGTCCACAGCTAGGTCAGAACAGCTTCTCTAGAGCTTCTATGCACAGCTTCTATTACTGTGATGACAAGATCTCAACAGACGGTTTCAAATCTCACATCACTCCCCTCCTTCCCATCCTAGAAAAGTGCAAAAAAGTTTATGAAAGTGATGGGCTTCCTCACATACCTGTCAATGCCTGCAGTCATCCGATTCCGCCCCTAAGCTGTGGGAAGAGAGACTTTGATATATTAGCTCCTGCCTTTTCCTTTCCCTTCCCCTATGGAGAGAAACAATGGGAGGATCTTGAGCTGAGGAAAGTCACAAAATGATGAGAAGAGTGTAGGGTCCTTAGAGATGAATGAAAGAAAAAAAAAGAGAAAGGACGTCTGAACAGAAAAGGGAGCGGTAGAGGAGAGAACAATGGGGTTTGCCATTCTCTATCTGGGTCTCACTGGCACAGACAGTGCTGCAAGATTGGTTCCCTCATGGGAATGAAATGTTTCCCCTCCTTCCTCCGCAGGACAAAACAAGGAGAGGCCACCACCTGTTCCCAACCCAGACTATGAGGTAACGTGGGATAGAAATGGGCCAGGACGCTGGAGGGGATGTCCCTCCAGGGGGGAAGGAAACAGATGGGATGGCCCATCTTGTCTGCCAGATGCCTCAAAGCCCCTCACTCAGGGCTTCCATTACAACCCTCTATGTGCCACCTCTGCGTCCTTCATGGTAAAACAGGACTGTCTCAAAGGCTGCATGGCTTCC | CATTTCTGTCTAAGCACAGACATCTAGACCCTTGTGTGAGCATGAGTTAAGTCTAAGCTCTGCTACTGAATTTGTGCCAATAAAAGTTGTGAGCAATTTTCTTTACATTTTTTTCAAACAAACACACCCAGCAGAGTATAATGTCTATGTACTTTATTTATGATTTCTAGTTCATTTAACATGTCTAAGAAACATCCGTGTTGAAAAATTATTTATAAATTAAAATAATATAAACTATCTACTGTCCTTATACTCAACTCCCAATTATAAGCAGGTGGAAAAACCTGGAGAATGTTTTGTTTACATTCTGTGCAGTCTTTGTCAGAGGGCTGCCTGAGCAACTGGGTCAGAGTTTAGTTCTGCTCTGGGAGTAGCAGGACCTCAAGAAGGAAAGGAGGAAAGGAAGTAACTTTTTCTTGAGCACCTGCTATGTGTCATTCACTTTCACCTTCATAATCCATTTAATTTTCGCAAAAACTTTGTGAGGTTGGTGTTTTATCTCCATTTCCCTGATAAAGAAGTTGAGGTTCAGCAAAGTTAAATGACTTGCCCTCAGTCACACAGACTAGGGCAGATCCAGGATTCAAACTCAGGGCTTCTGACTCTTGAGTCCAGAGCTCTGTCCCTGACAGCAGCAGCACTGCCTCTCCTCTCTTCCAGCTGTTATGTCCAGACTGTAGCAGAACCCAGTGTTCCAGCCACAAGTTTTCCAGGAAATAATAAAGGACTCCTAGCTCCACCTCCCAGGGCAAAAATGGCTGCTGTGGGAAACACAGGCTGGACCTACGAATGGCATTAGTGGTTTATTAGTTGATTTCAGTTGTCCACACTAATAGGCCTCCCTCTAACAAAAATAATTGAGAGCTGATTATGCTCAGATATAATGTAAAGTGAAGCCACTTTTTATTGGAAGAAGCATTCCCTCAAAACGTGTAGAGTATTTCACATTATTTAAAGGCAAATAGAGAGAAAATTATATGGAATAAGAACAAAGATGTTTCTTCTCTATTATGAGGGACTCAGTTCTGAGAAAGGATTTTAAATTGTAAGAAATAGGTAAGTCCACGAATCAGTGATTCAGTGGTGTGGAGAGCTTTATTTCTGAGAAGGCCAGTAGCGCTCCCTTCTGACAAGCAAATCTAAGACCTGGATGACAGATGACTTCCTGCATTTGGTTGGTTCTTTTGTCATTCATATCTATCTGTAATACAGTTCTGGCTAATTTAAGAGGATAAGCTTGAAGACCTCTGGAATTTTTCGGCTTTAGGACTTTAAGGCTTTCTGAGCTTCAGTAGATCTAGATCTAGGAGCTCATGCTGGTATATTCTGAATCCGATGTATCTGAGTTACATCTATGAGCTACTTAATAAATATATCTATGAGCTAAATCTCATAGGCTAAGCATGAACCTCACCTCCAAGACTCGGGGTTCCTAAATGGATGAGACCCTCTTTGGGAAGTCTTGTGGGCAGTGTCTAATTCCACTAGAAAAGTTTTACCTACAATTTAAACTTAAACCATGATATTTTCTTACTGCTGTTTCCTTTTTTCATTTTCAGGTGGTATTACACAGACACGTGAGTTTATTGGTCTTTTATTTATGCCCTGTCTGAGGATGCAGATTGGTGGGTAGATGAGAAGGAACTGATTGAGAGAGATTAACCCCAAGAACTGATATCTTCCCAGCATTGCATTCTCAACTCCATTTTAGAAAGGTTCCAAATAGGGACTTCTGTGGGTTTTTCTTTACATCCATCTTACCCTTCCCAAGTCCCCATGTCCCTGCGTAAACCCTAAAGCCACCTCTCAAAAGGTTCTCTAGTTCCCTTCAAGGTTCTCTAGTTCCCTTCATTCCACATATCTCCTCTTCCACACCCTCTAGCCAGTAGAGCTCCCTTCTGACAAGCAAGTCTAAGATCTAGATGACAGATGACTTCCTGCATTTGGGTGGTTCTTTTGTCACTAATTTGCCTTTTCTAAAATTGTCCTGGTTTCTTCTGCCAATTTCCCTTCTTTCTCCCCAGCATATAAAGTCTCCATCTCTGGAACCAGTAATATTGACATGCCCTCAGTATCCTGGATCTGAAATACTATGGCAACACAATGATAAAAACATAGGCGGTGATGAGGATGATAAAAACATAGGCAGTGATGAGGATCACCTGTCACTGAAGGAATTTTCAGAATTGGAGCAAAGTGGTTATTATGTCTGCTACCCCAGAGGAAGCAAACCAGAAGATGCGAACTTTTATCTCTACCTGAGGGCAAGAGGTAATCCAGGTCTCCAGAACAGGTACCACCGGCTCTTTAGGGAGGACCATTCAAAAGGGCATTCTCAGTGATTTTCCCTAACCCAGCTCACAGTGCCCAGGCGTCTTTGCGCTTCCTCCCACACTCAATCCTGGGACTCTCTGGTACCACACGGCATCAGTGTTTTCTGGAATATAGATTAAACACCAATATGAGGCTTCTGGGTAACCCCAGTCTGTGCGAGATCTAAAATAGCAACTCCCTAAGAGACAGGACTGGGTCATTTGCACCGCATCACACCCAGGTTCATAGCACACCAACATGAGTTTATCTAATGCTTCCTCCAGAGATAAATTTTTCAGAAAGGTTTGCAAAAAACACTCAAGGCCACTATAGTAAAATGGCATAAGCTAAGGTATAATAATAAAATAATAACAATACTTAACATTTATTGAGTGCTTATTAAGTCTCAAGCACTGTCTGTACCCAACACTTATCAAGGATTCTTTTTCATGTAATCCTCTCAACAACTATATGGGTTAAGTATCATTTTATTCCCATGAGTAAAGGGATGAGGAAACAGAGGGTTTGTGAGTTGAAAACACATTTCACGCTTCTCACAGCTAGTGAGTAATAAAGCTGGGACTCAAACCCAGGGCTGTTTGACTCCAGTGCCTCTACCCACGGCCACCACTCTTTGCTTGTCAATGTTGTTCTAAACATATTGAAGGGGGGGCTCTGACCGTGGCAAGCGTGTGAGTAGTAAGGGGAGAATGGCCTTCATGCACTCCCTCCTCACCTCCAGCGCCTTGTGTTTTCCTTGCTTAGTGATTTCCCCTCTCCCCACCCCACCCCCCACAGTGTGTGAGAACTGCATGGAGATGGATGTGATGTCGGTGGCCACAATTGTCATAGTGGACATCTGCATCACTGGGGGCTTGCTGCTGCTGGTTTACTACTGGAGCAAGAATAGAAAGGCCAAGGCCAAGCCTGTGACACGAGGAGCGGGTGCTGGCGGCAGGCAAAGGGGTAAGGCTGTGGAGTCCAGTCAGAGGAGATTCCTGCCAAGGGGGACGACCAGCCTGGGCCAGGGTGGGTGGCAAGTCCACAGCTAGGTCAGAACAGCTTCTCTAGAGCTTCTATGCACAGCTTCTATTACTGTGATGACAAGATCTCAACAGACGGTTTCAAATCTCACATCACTCCCCTCCTTCCCATCCTAGAAAAGTGCAAAAAAGTTTATGAAAGTGATGGGCTTCCTCACATACCTGTCAATGCCTGCAGTCATCCGATTCCGCCCCTAAGCTGTGGGAAGAGAGACTTTGATATATTAGCTCCTGCCTTTTCCTTTCCCTTCCCCTATGGAGAGAAACAATGGGAGGATCTTGAGCTGAGGAAAGTCACAAAATGATGAGAAGAGTGTAGGGTCCTTAGAGATGAATGAAAGAAAAAAAAAGAGAAAGGACGTCTGAACAGAAAAGGGAGCGGTAGAGGAGAGAACAATGGGGTTTGCCATTCTCTATCTGGGTCTCACTGGCACAGACAGTGCTGCAAGATTGGTTCCCTCATGGGAATGAAATGTTTCCCCTCCTTCCTCCGCAGGACAAAACAAGGAGAGGCCACCACCTGTTCCCAACCCAGACTATGAGGTAACGTGGGATAGAAATGGGCCAGGACGCTGGAGGGGATGTCCCTCCAGGGGGGAAGGAAACAGATGGGATGGCCCATCTTGTCTGCCAGATGCCTCAAAGCCCCTCACTCAGGGCTTCCATTACAACCCTCTATGTGCCACCTCTGCGTCCTTCATGGTAAAACAGGACTGTCTCAAAGGCTGCATGGCTTCCNN | pathogenic | 188,487 |
Does the genetic variant at chromosome 11, position 118312686, impacting gene CD3E (CD3 epsilon subunit of T-cell receptor complex), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic | AGTTAAGTCTAAGCTCTGCTACTGAATTTGTGCCAATAAAAGTTGTGAGCAATTTTCTTTACATTTTTTTCAAACAAACACACCCAGCAGAGTATAATGTCTATGTACTTTATTTATGATTTCTAGTTCATTTAACATGTCTAAGAAACATCCGTGTTGAAAAATTATTTATAAATTAAAATAATATAAACTATCTACTGTCCTTATACTCAACTCCCAATTATAAGCAGGTGGAAAAACCTGGAGAATGTTTTGTTTACATTCTGTGCAGTCTTTGTCAGAGGGCTGCCTGAGCAACTGGGTCAGAGTTTAGTTCTGCTCTGGGAGTAGCAGGACCTCAAGAAGGAAAGGAGGAAAGGAAGTAACTTTTTCTTGAGCACCTGCTATGTGTCATTCACTTTCACCTTCATAATCCATTTAATTTTCGCAAAAACTTTGTGAGGTTGGTGTTTTATCTCCATTTCCCTGATAAAGAAGTTGAGGTTCAGCAAAGTTAAATGACTTGCCCTCAGTCACACAGACTAGGGCAGATCCAGGATTCAAACTCAGGGCTTCTGACTCTTGAGTCCAGAGCTCTGTCCCTGACAGCAGCAGCACTGCCTCTCCTCTCTTCCAGCTGTTATGTCCAGACTGTAGCAGAACCCAGTGTTCCAGCCACAAGTTTTCCAGGAAATAATAAAGGACTCCTAGCTCCACCTCCCAGGGCAAAAATGGCTGCTGTGGGAAACACAGGCTGGACCTACGAATGGCATTAGTGGTTTATTAGTTGATTTCAGTTGTCCACACTAATAGGCCTCCCTCTAACAAAAATAATTGAGAGCTGATTATGCTCAGATATAATGTAAAGTGAAGCCACTTTTTATTGGAAGAAGCATTCCCTCAAAACGTGTAGAGTATTTCACATTATTTAAAGGCAAATAGAGAGAAAATTATATGGAATAAGAACAAAGATGTTTCTTCTCTATTATGAGGGACTCAGTTCTGAGAAAGGATTTTAAATTGTAAGAAATAGGTAAGTCCACGAATCAGTGATTCAGTGGTGTGGAGAGCTTTATTTCTGAGAAGGCCAGTAGCGCTCCCTTCTGACAAGCAAATCTAAGACCTGGATGACAGATGACTTCCTGCATTTGGTTGGTTCTTTTGTCATTCATATCTATCTGTAATACAGTTCTGGCTAATTTAAGAGGATAAGCTTGAAGACCTCTGGAATTTTTCGGCTTTAGGACTTTAAGGCTTTCTGAGCTTCAGTAGATCTAGATCTAGGAGCTCATGCTGGTATATTCTGAATCCGATGTATCTGAGTTACATCTATGAGCTACTTAATAAATATATCTATGAGCTAAATCTCATAGGCTAAGCATGAACCTCACCTCCAAGACTCGGGGTTCCTAAATGGATGAGACCCTCTTTGGGAAGTCTTGTGGGCAGTGTCTAATTCCACTAGAAAAGTTTTACCTACAATTTAAACTTAAACCATGATATTTTCTTACTGCTGTTTCCTTTTTTCATTTTCAGGTGGTATTACACAGACACGTGAGTTTATTGGTCTTTTATTTATGCCCTGTCTGAGGATGCAGATTGGTGGGTAGATGAGAAGGAACTGATTGAGAGAGATTAACCCCAAGAACTGATATCTTCCCAGCATTGCATTCTCAACTCCATTTTAGAAAGGTTCCAAATAGGGACTTCTGTGGGTTTTTCTTTACATCCATCTTACCCTTCCCAAGTCCCCATGTCCCTGCGTAAACCCTAAAGCCACCTCTCAAAAGGTTCTCTAGTTCCCTTCAAGGTTCTCTAGTTCCCTTCATTCCACATATCTCCTCTTCCACACCCTCTAGCCAGTAGAGCTCCCTTCTGACAAGCAAGTCTAAGATCTAGATGACAGATGACTTCCTGCATTTGGGTGGTTCTTTTGTCACTAATTTGCCTTTTCTAAAATTGTCCTGGTTTCTTCTGCCAATTTCCCTTCTTTCTCCCCAGCATATAAAGTCTCCATCTCTGGAACCACAGTAATATTGACATGCCCTCAGTATCCTGGATCTGAAATACTATGGCAACACAATGATAAAAACATAGGCGGTGATGAGGATGATAAAAACATAGGCAGTGATGAGGATCACCTGTCACTGAAGGAATTTTCAGAATTGGAGCAAAGTGGTTATTATGTCTGCTACCCCAGAGGAAGCAAACCAGAAGATGCGAACTTTTATCTCTACCTGAGGGCAAGAGGTAATCCAGGTCTCCAGAACAGGTACCACCGGCTCTTTAGGGAGGACCATTCAAAAGGGCATTCTCAGTGATTTTCCCTAACCCAGCTCACAGTGCCCAGGCGTCTTTGCGCTTCCTCCCACACTCAATCCTGGGACTCTCTGGTACCACACGGCATCAGTGTTTTCTGGAATATAGATTAAACACCAATATGAGGCTTCTGGGTAACCCCAGTCTGTGCGAGATCTAAAATAGCAACTCCCTAAGAGACAGGACTGGGTCATTTGCACCGCATCACACCCAGGTTCATAGCACACCAACATGAGTTTATCTAATGCTTCCTCCAGAGATAAATTTTTCAGAAAGGTTTGCAAAAAACACTCAAGGCCACTATAGTAAAATGGCATAAGCTAAGGTATAATAATAAAATAATAACAATACTTAACATTTATTGAGTGCTTATTAAGTCTCAAGCACTGTCTGTACCCAACACTTATCAAGGATTCTTTTTCATGTAATCCTCTCAACAACTATATGGGTTAAGTATCATTTTATTCCCATGAGTAAAGGGATGAGGAAACAGAGGGTTTGTGAGTTGAAAACACATTTCACGCTTCTCACAGCTAGTGAGTAATAAAGCTGGGACTCAAACCCAGGGCTGTTTGACTCCAGTGCCTCTACCCACGGCCACCACTCTTTGCTTGTCAATGTTGTTCTAAACATATTGAAGGGGGGGCTCTGACCGTGGCAAGCGTGTGAGTAGTAAGGGGAGAATGGCCTTCATGCACTCCCTCCTCACCTCCAGCGCCTTGTGTTTTCCTTGCTTAGTGATTTCCCCTCTCCCCACCCCACCCCCCACAGTGTGTGAGAACTGCATGGAGATGGATGTGATGTCGGTGGCCACAATTGTCATAGTGGACATCTGCATCACTGGGGGCTTGCTGCTGCTGGTTTACTACTGGAGCAAGAATAGAAAGGCCAAGGCCAAGCCTGTGACACGAGGAGCGGGTGCTGGCGGCAGGCAAAGGGGTAAGGCTGTGGAGTCCAGTCAGAGGAGATTCCTGCCAAGGGGGACGACCAGCCTGGGCCAGGGTGGGTGGCAAGTCCACAGCTAGGTCAGAACAGCTTCTCTAGAGCTTCTATGCACAGCTTCTATTACTGTGATGACAAGATCTCAACAGACGGTTTCAAATCTCACATCACTCCCCTCCTTCCCATCCTAGAAAAGTGCAAAAAAGTTTATGAAAGTGATGGGCTTCCTCACATACCTGTCAATGCCTGCAGTCATCCGATTCCGCCCCTAAGCTGTGGGAAGAGAGACTTTGATATATTAGCTCCTGCCTTTTCCTTTCCCTTCCCCTATGGAGAGAAACAATGGGAGGATCTTGAGCTGAGGAAAGTCACAAAATGATGAGAAGAGTGTAGGGTCCTTAGAGATGAATGAAAGAAAAAAAAAGAGAAAGGACGTCTGAACAGAAAAGGGAGCGGTAGAGGAGAGAACAATGGGGTTTGCCATTCTCTATCTGGGTCTCACTGGCACAGACAGTGCTGCAAGATTGGTTCCCTCATGGGAATGAAATGTTTCCCCTCCTTCCTCCGCAGGACAAAACAAGGAGAGGCCACCACCTGTTCCCAACCCAGACTATGAGGTAACGTGGGATAGAAATGGGCCAGGACGCTGGAGGGGATGTCCCTCCAGGGGGGAAGGAAACAGATGGGATGGCCCATCTTGTCTGCCAGATGCCTCAAAGCCCCTCACTCAGGGCTTCCATTACAACCCTCTATGTGCCACCTCTGCGTCCTTCATGGTAAAACAGGACTGTCTCAAAGGCTGCATGGCTTCCACAACCATGGAGAGGTGGAAGCTTGCAGGAGACATACTCCTCTT | AGTTAAGTCTAAGCTCTGCTACTGAATTTGTGCCAATAAAAGTTGTGAGCAATTTTCTTTACATTTTTTTCAAACAAACACACCCAGCAGAGTATAATGTCTATGTACTTTATTTATGATTTCTAGTTCATTTAACATGTCTAAGAAACATCCGTGTTGAAAAATTATTTATAAATTAAAATAATATAAACTATCTACTGTCCTTATACTCAACTCCCAATTATAAGCAGGTGGAAAAACCTGGAGAATGTTTTGTTTACATTCTGTGCAGTCTTTGTCAGAGGGCTGCCTGAGCAACTGGGTCAGAGTTTAGTTCTGCTCTGGGAGTAGCAGGACCTCAAGAAGGAAAGGAGGAAAGGAAGTAACTTTTTCTTGAGCACCTGCTATGTGTCATTCACTTTCACCTTCATAATCCATTTAATTTTCGCAAAAACTTTGTGAGGTTGGTGTTTTATCTCCATTTCCCTGATAAAGAAGTTGAGGTTCAGCAAAGTTAAATGACTTGCCCTCAGTCACACAGACTAGGGCAGATCCAGGATTCAAACTCAGGGCTTCTGACTCTTGAGTCCAGAGCTCTGTCCCTGACAGCAGCAGCACTGCCTCTCCTCTCTTCCAGCTGTTATGTCCAGACTGTAGCAGAACCCAGTGTTCCAGCCACAAGTTTTCCAGGAAATAATAAAGGACTCCTAGCTCCACCTCCCAGGGCAAAAATGGCTGCTGTGGGAAACACAGGCTGGACCTACGAATGGCATTAGTGGTTTATTAGTTGATTTCAGTTGTCCACACTAATAGGCCTCCCTCTAACAAAAATAATTGAGAGCTGATTATGCTCAGATATAATGTAAAGTGAAGCCACTTTTTATTGGAAGAAGCATTCCCTCAAAACGTGTAGAGTATTTCACATTATTTAAAGGCAAATAGAGAGAAAATTATATGGAATAAGAACAAAGATGTTTCTTCTCTATTATGAGGGACTCAGTTCTGAGAAAGGATTTTAAATTGTAAGAAATAGGTAAGTCCACGAATCAGTGATTCAGTGGTGTGGAGAGCTTTATTTCTGAGAAGGCCAGTAGCGCTCCCTTCTGACAAGCAAATCTAAGACCTGGATGACAGATGACTTCCTGCATTTGGTTGGTTCTTTTGTCATTCATATCTATCTGTAATACAGTTCTGGCTAATTTAAGAGGATAAGCTTGAAGACCTCTGGAATTTTTCGGCTTTAGGACTTTAAGGCTTTCTGAGCTTCAGTAGATCTAGATCTAGGAGCTCATGCTGGTATATTCTGAATCCGATGTATCTGAGTTACATCTATGAGCTACTTAATAAATATATCTATGAGCTAAATCTCATAGGCTAAGCATGAACCTCACCTCCAAGACTCGGGGTTCCTAAATGGATGAGACCCTCTTTGGGAAGTCTTGTGGGCAGTGTCTAATTCCACTAGAAAAGTTTTACCTACAATTTAAACTTAAACCATGATATTTTCTTACTGCTGTTTCCTTTTTTCATTTTCAGGTGGTATTACACAGACACGTGAGTTTATTGGTCTTTTATTTATGCCCTGTCTGAGGATGCAGATTGGTGGGTAGATGAGAAGGAACTGATTGAGAGAGATTAACCCCAAGAACTGATATCTTCCCAGCATTGCATTCTCAACTCCATTTTAGAAAGGTTCCAAATAGGGACTTCTGTGGGTTTTTCTTTACATCCATCTTACCCTTCCCAAGTCCCCATGTCCCTGCGTAAACCCTAAAGCCACCTCTCAAAAGGTTCTCTAGTTCCCTTCAAGGTTCTCTAGTTCCCTTCATTCCACATATCTCCTCTTCCACACCCTCTAGCCAGTAGAGCTCCCTTCTGACAAGCAAGTCTAAGATCTAGATGACAGATGACTTCCTGCATTTGGGTGGTTCTTTTGTCACTAATTTGCCTTTTCTAAAATTGTCCTGGTTTCTTCTGCCAATTTCCCTTCTTTCTCCCCAGCATATAAAGTCTCCATCTCTGGAACCACAGTAATATTGACATGCCCTCAGTATCCTGGATCTGAAATACATGGCAACACAATGATAAAAACATAGGCGGTGATGAGGATGATAAAAACATAGGCAGTGATGAGGATCACCTGTCACTGAAGGAATTTTCAGAATTGGAGCAAAGTGGTTATTATGTCTGCTACCCCAGAGGAAGCAAACCAGAAGATGCGAACTTTTATCTCTACCTGAGGGCAAGAGGTAATCCAGGTCTCCAGAACAGGTACCACCGGCTCTTTAGGGAGGACCATTCAAAAGGGCATTCTCAGTGATTTTCCCTAACCCAGCTCACAGTGCCCAGGCGTCTTTGCGCTTCCTCCCACACTCAATCCTGGGACTCTCTGGTACCACACGGCATCAGTGTTTTCTGGAATATAGATTAAACACCAATATGAGGCTTCTGGGTAACCCCAGTCTGTGCGAGATCTAAAATAGCAACTCCCTAAGAGACAGGACTGGGTCATTTGCACCGCATCACACCCAGGTTCATAGCACACCAACATGAGTTTATCTAATGCTTCCTCCAGAGATAAATTTTTCAGAAAGGTTTGCAAAAAACACTCAAGGCCACTATAGTAAAATGGCATAAGCTAAGGTATAATAATAAAATAATAACAATACTTAACATTTATTGAGTGCTTATTAAGTCTCAAGCACTGTCTGTACCCAACACTTATCAAGGATTCTTTTTCATGTAATCCTCTCAACAACTATATGGGTTAAGTATCATTTTATTCCCATGAGTAAAGGGATGAGGAAACAGAGGGTTTGTGAGTTGAAAACACATTTCACGCTTCTCACAGCTAGTGAGTAATAAAGCTGGGACTCAAACCCAGGGCTGTTTGACTCCAGTGCCTCTACCCACGGCCACCACTCTTTGCTTGTCAATGTTGTTCTAAACATATTGAAGGGGGGGCTCTGACCGTGGCAAGCGTGTGAGTAGTAAGGGGAGAATGGCCTTCATGCACTCCCTCCTCACCTCCAGCGCCTTGTGTTTTCCTTGCTTAGTGATTTCCCCTCTCCCCACCCCACCCCCCACAGTGTGTGAGAACTGCATGGAGATGGATGTGATGTCGGTGGCCACAATTGTCATAGTGGACATCTGCATCACTGGGGGCTTGCTGCTGCTGGTTTACTACTGGAGCAAGAATAGAAAGGCCAAGGCCAAGCCTGTGACACGAGGAGCGGGTGCTGGCGGCAGGCAAAGGGGTAAGGCTGTGGAGTCCAGTCAGAGGAGATTCCTGCCAAGGGGGACGACCAGCCTGGGCCAGGGTGGGTGGCAAGTCCACAGCTAGGTCAGAACAGCTTCTCTAGAGCTTCTATGCACAGCTTCTATTACTGTGATGACAAGATCTCAACAGACGGTTTCAAATCTCACATCACTCCCCTCCTTCCCATCCTAGAAAAGTGCAAAAAAGTTTATGAAAGTGATGGGCTTCCTCACATACCTGTCAATGCCTGCAGTCATCCGATTCCGCCCCTAAGCTGTGGGAAGAGAGACTTTGATATATTAGCTCCTGCCTTTTCCTTTCCCTTCCCCTATGGAGAGAAACAATGGGAGGATCTTGAGCTGAGGAAAGTCACAAAATGATGAGAAGAGTGTAGGGTCCTTAGAGATGAATGAAAGAAAAAAAAAGAGAAAGGACGTCTGAACAGAAAAGGGAGCGGTAGAGGAGAGAACAATGGGGTTTGCCATTCTCTATCTGGGTCTCACTGGCACAGACAGTGCTGCAAGATTGGTTCCCTCATGGGAATGAAATGTTTCCCCTCCTTCCTCCGCAGGACAAAACAAGGAGAGGCCACCACCTGTTCCCAACCCAGACTATGAGGTAACGTGGGATAGAAATGGGCCAGGACGCTGGAGGGGATGTCCCTCCAGGGGGGAAGGAAACAGATGGGATGGCCCATCTTGTCTGCCAGATGCCTCAAAGCCCCTCACTCAGGGCTTCCATTACAACCCTCTATGTGCCACCTCTGCGTCCTTCATGGTAAAACAGGACTGTCTCAAAGGCTGCATGGCTTCCACAACCATGGAGAGGTGGAAGCTTGCAGGAGACATACTCCTCTTN | pathogenic | 188,488 |
Mutation at chromosome 11, position 118339709, within CD3D (CD3 delta subunit of T-cell receptor complex): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCTGCATTTATATTTTTAATAAATCCCTCAGGCCTCCAAAGTTTCAGAACCATAGCTATTTTTTTTTTAAGATAGGGTCTCACTCTGTAGCCCAGGCTGGAGTGCAGTGGCACAATCATAACTCACTGCAGCCTCCAATTCCCAGCCTCATGCAATCCTCCCACCTCAGCCTCCCAAATAGCTAGGACTACAGGTGCCCACCACTGCACTGAGCTGATTTTGTTTTTTTTTTTGGTCGAGACGGGATGTTGCTATGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGTGATCCTCTTGCCTCTGCCTCCTAAAGTGCTGGGATTACATGCATGAGCCATTGTGCCCAGCCTAGAACCACTACCATTAGAAGTAATAGAAGATGACATCTATTGAAAATATCCCTGTCTCAGCCAGGTGCAGTGGCTCATGCCTCTAATCCCAGCACTTTTGGAGGCTGAGTGAGTGGATCATTTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGAACTTGGTGACACATGCTTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGACTCCAGGAGACAGAGGTTGCAGTAAGCCAAGATCATGCCACAGCACTCCAGCCTGAGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAATCCCTGTCTCAAACTCCTGCTTTCCAGGTAGATGGAGCGGGATAATGTGCTTTAATTGGTGAAGGGTTTCTGATCCCCATTTATCATGCAGAAGGCAGGAGCAAGCCAGAGACAGGTCCTGGCGAAAGGAAGCTAAAATGGTGCCTTTGATACAGGGGAAAGGGATACGAAAGGGGCTTAGGTGAGACCTCCTTACAGCTAGTGGCACCTGGTCAGCAGGGCCGTAGAGTTGAGGCCATCCCCTTAGCAGCAGTGGGACTTTGTTACACACACCCTCTGAGTCTTGGTGAGAAACTAGTCCCAGGGCCCCTTGTTGTCTCTGCCACTCCCATTCATGACATCATGGAAACTTCTGTGCGGCTGGGCTCCTGAACACAGCAGCCTGCCCTCGGCTGGATGAGGCAGCCAAAACCCTAAAAGGGTTGTGATAGGGACTGGAGTCAACAAGTAGCTGTGGGAACGTGGTGGCGCAGACCCTTCACCCAGGGAGCCCTGTGGGCTAGAAACACCAGACAGCCAGGATGTGGCGAGAGACTGCCCAACACACTGTCTGTGTGAGGCAGAGGAAGGAAGGAGATGAAGGAAGAAACAGGTAGGTAGGAGGGCGAGATCCCAAGCAAGTCAGGACAACTCCCACGCCTTGCCCAGGAGCCTTAAGAAGCCCAGGCACCTGCTGAGTGAAAGAGGATATATTTATTGGCTGAGCAAGAAGGGAAGGTACAGTTGGTAATGGCTGCTTCTAGAAGCCACCAGTCTCAGGTTCACTTGTTCCGAGCCCAGTTTCCTCCAAGGTGGCTGTACTGAGCATCATCTCGATCTCGGAGGGGCTAAGAGAGGAGAAGAGAAAACGGTCAGGAGGCAGGGTTAGAACTCTTCAAGGAAGGGCCCCAGCAGGCCCTGACGATGAGAGCTCCTGCCTGACCTCTCCAGTCACACCCAGCAATGAACTCCCCAGTAGGACCCTTCCCACGTGCAAACAGCATTCAGTGTGAGCCTCTCTATCCCCACTTACCCTCCCTTCATTCCTGCCTCCTTCCCCTCAACGCTCACCTGATAGACCTGGTCATTCCTCAACAGAGCTTGTGTGTCGGCAGCTAGAAGAACCAGAGAGAGACATCAATGGCCTAGCAGATGGGACTGTGAGATCCACCCTCCCACACCCTCAGAAGTCTGCATGAGTGATATGAACACACAAGTTCTTTCAACAGTCAAAGTTCTAGGAGTCTTTAGGAGATTGCAAGAGTAACTCCCAGCTGAGACTAAACCTACCACCAGCCCCATTCCTTAGCTGGTGCATAAGCTCACTGGTACACACACACACACACACACACACACACACACAAACACACTCTCATGCTCTGCTCTTCCACTAACCCCCAGACAGCCTTCCAGTCTCATGTCCAGCAAAGCAGAAGACTCCCAAAGCAAGGAGCAGAGTGGCAATGACATCAGTGACAATGATGCCAGCCACGGTGGCTGGATCCAGCTCCACACAGCTCTGGCACACTGTGGGGGAAGGGAGGAGAGAGGAGAGGTTGAGAGCCTTTAAGATCAGGGAACCATCCTCTGCCTCCTAGGGCAACCCTTAGATCTCTTATGCCAAAACCCAAACTTCAATAAGACCCTGGGAGAAAGGCCTGGTGATGGGCTTGCCACACCTTCCTCCACCCTGCATCCTAAGGAATCCCTGGGAAGAGCCAAGAAGTAATCTCAGCTTTTGGGACCTTGAACAAGGTGGTGGGCCAAACCTCTCACCCAACCAAGGCTGCAGTAACATGACCCCTACTGCTCTGTCTTGCTGAGTTAAGCTCTCTCTTCCACTTTGAAGGTCCCCAAATCTGGCTTGTACCATTACAATAGTGACCTCACTTTGTTTAGAGAACAGATGGGTTCACCATATCCCTCTCTAGCCAGAAAGTTCTCACATCCAGAAGCCCTATCCATTCCAACCCAAAGGGTTCAGGAAGCACGTACTTCGATAATGAACTTGCACGGTAGATTCTTTGTCCTTGTATATATCTGTCCCATTACACCTATATATTCCTCGTGGGTCCAGGATGCGTTTTCCCAGGTCCAGTCTTGTAATGTCTGAGAGCAGTGTTCCCACCGTTCCCTCTACCCATGTGATGCTGGTATTGCAATTCACAAACACTCTGTCCTCAAGTTCCTCTATAGGTATCTTGAAGGGGCTCACTAAAGGGGAAAAAATATCACAGTTGGAGACAGCTCTTTGATCTGCACCAAGCCCTTTGTTCTGCGGAAGCTCATACTTAACAGAGACCATTTTCCTGGTCCAGGACAGTTTATGGCTTCCATCAAGAGAGACAGAAGTCACAAGAAAAAGCCTTCAGAAAGTTCCCCACCAACTGCAGGGGTCAAGGGGGACATGAGGATGCCATTCAAGCAGAGGACAGGTCTTGGGGCCTTGGTGCAAAAGAGGACCCCTCAGAGCAGGATTGACCCAAGCACCTTCCTGGAAATGAATCCAGACCACTGATGAGGAGTAGGGGGAGCACGGACCACTGAAGCACCTGGAAGATGTGGAAAGACAGAAGAACATTCCTCGATTGGAAATGTCTGCATTTTTTCTTCAAGGAAACATCTAATTCCACTTCCCAGCCATCTACAACACTCCCACTTCAGCTTCTTATCCTCATCCTTCCTCATTGCCCCTGCTCCATTGACAACCAAGAAAGCGGGGCTCTCAACACTGAAGCCTTTCCCAGGGCCAGGGATGGCTGTGGGTGGAGACCAGCTGGTTTACCAGCCCCTGAATTATCAGCCAAGTGGTCCAGAACGGGACCAGGGCAAATCCCATGTACAGTTTTCCACCCTTGGTTAGAAGGAGGAGAACAGGAAAAAAATTTTATTGAATCCATCCCTAGAGCTCCTCACAAGTCAAGTCTTGTGGGAGACTTTTAGGGCTGGAGGTGAGTGCAGCAACATTCCAGATGCAGTGAGTTCCTCTGACAGCCTGAGCACATCTCCACAGGCCACAGAGGCACTACAGTCTATGCCTCCAAACACAGGGAAAAGTGGAGGCTACATTCATTCATCCTGGGCTTCACACTAAGTCCCAAATTTGGATACAAGAGCATCTTCTAGAAAACCCTGAAACAGCTGTTGCTCACACTTCTGAAGCAGGTTGGAAGTATATGCATGTATCCTCAGGGAGACACATGCACATCAAATGCTTCACGTCCTACAGTCGCGTCCTCTTCAGGGATCTGTCTCCAGTGGAAATCCTGAGTGCCCTAGTGCAGCCAACTATTAGGTGACCATTGGACCCAGTTTGCTTAGTGTTGAAGGGGTTCCTCGGACATGGGACTTTCCATTTTAAAACTGAAATTGGCAAA | TGCTGGGATTACAGGTGTGAGCCACCATGCCTGGCTGCATTTATATTTTTAATAAATCCCTCAGGCCTCCAAAGTTTCAGAACCATAGCTATTTTTTTTTTAAGATAGGGTCTCACTCTGTAGCCCAGGCTGGAGTGCAGTGGCACAATCATAACTCACTGCAGCCTCCAATTCCCAGCCTCATGCAATCCTCCCACCTCAGCCTCCCAAATAGCTAGGACTACAGGTGCCCACCACTGCACTGAGCTGATTTTGTTTTTTTTTTTGGTCGAGACGGGATGTTGCTATGTTGCCCAGGCTGGTTTTGAACTCCTAGGCTCAAGTGATCCTCTTGCCTCTGCCTCCTAAAGTGCTGGGATTACATGCATGAGCCATTGTGCCCAGCCTAGAACCACTACCATTAGAAGTAATAGAAGATGACATCTATTGAAAATATCCCTGTCTCAGCCAGGTGCAGTGGCTCATGCCTCTAATCCCAGCACTTTTGGAGGCTGAGTGAGTGGATCATTTGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGAACTTGGTGACACATGCTTGCAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGACTCCAGGAGACAGAGGTTGCAGTAAGCCAAGATCATGCCACAGCACTCCAGCCTGAGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAATCCCTGTCTCAAACTCCTGCTTTCCAGGTAGATGGAGCGGGATAATGTGCTTTAATTGGTGAAGGGTTTCTGATCCCCATTTATCATGCAGAAGGCAGGAGCAAGCCAGAGACAGGTCCTGGCGAAAGGAAGCTAAAATGGTGCCTTTGATACAGGGGAAAGGGATACGAAAGGGGCTTAGGTGAGACCTCCTTACAGCTAGTGGCACCTGGTCAGCAGGGCCGTAGAGTTGAGGCCATCCCCTTAGCAGCAGTGGGACTTTGTTACACACACCCTCTGAGTCTTGGTGAGAAACTAGTCCCAGGGCCCCTTGTTGTCTCTGCCACTCCCATTCATGACATCATGGAAACTTCTGTGCGGCTGGGCTCCTGAACACAGCAGCCTGCCCTCGGCTGGATGAGGCAGCCAAAACCCTAAAAGGGTTGTGATAGGGACTGGAGTCAACAAGTAGCTGTGGGAACGTGGTGGCGCAGACCCTTCACCCAGGGAGCCCTGTGGGCTAGAAACACCAGACAGCCAGGATGTGGCGAGAGACTGCCCAACACACTGTCTGTGTGAGGCAGAGGAAGGAAGGAGATGAAGGAAGAAACAGGTAGGTAGGAGGGCGAGATCCCAAGCAAGTCAGGACAACTCCCACGCCTTGCCCAGGAGCCTTAAGAAGCCCAGGCACCTGCTGAGTGAAAGAGGATATATTTATTGGCTGAGCAAGAAGGGAAGGTACAGTTGGTAATGGCTGCTTCTAGAAGCCACCAGTCTCAGGTTCACTTGTTCCGAGCCCAGTTTCCTCCAAGGTGGCTGTACTGAGCATCATCTCGATCTCGGAGGGGCTAAGAGAGGAGAAGAGAAAACGGTCAGGAGGCAGGGTTAGAACTCTTCAAGGAAGGGCCCCAGCAGGCCCTGACGATGAGAGCTCCTGCCTGACCTCTCCAGTCACACCCAGCAATGAACTCCCCAGTAGGACCCTTCCCACGTGCAAACAGCATTCAGTGTGAGCCTCTCTATCCCCACTTACCCTCCCTTCATTCCTGCCTCCTTCCCCTCAACGCTCACCTGATAGACCTGGTCATTCCTCAACAGAGCTTGTGTGTCGGCAGCTAGAAGAACCAGAGAGAGACATCAATGGCCTAGCAGATGGGACTGTGAGATCCACCCTCCCACACCCTCAGAAGTCTGCATGAGTGATATGAACACACAAGTTCTTTCAACAGTCAAAGTTCTAGGAGTCTTTAGGAGATTGCAAGAGTAACTCCCAGCTGAGACTAAACCTACCACCAGCCCCATTCCTTAGCTGGTGCATAAGCTCACTGGTACACACACACACACACACACACACACACACAAACACACTCTCATGCTCTGCTCTTCCACTAACCCCCAGACAGCCTTCCAGTCTCATGTCCAGCAAAGCAGAAGACTCCCAAAGCAAGGAGCAGAGTGGCAATGACATCAGTGACAATGATGCCAGCCACGGTGGCTGGATCCAGCTCCACACAGCTCTGGCACACTGTGGGGGAAGGGAGGAGAGAGGAGAGGTTGAGAGCCTTTAAGATCAGGGAACCATCCTCTGCCTCCTAGGGCAACCCTTAGATCTCTTATGCCAAAACCCAAACTTCAATAAGACCCTGGGAGAAAGGCCTGGTGATGGGCTTGCCACACCTTCCTCCACCCTGCATCCTAAGGAATCCCTGGGAAGAGCCAAGAAGTAATCTCAGCTTTTGGGACCTTGAACAAGGTGGTGGGCCAAACCTCTCACCCAACCAAGGCTGCAGTAACATGACCCCTACTGCTCTGTCTTGCTGAGTTAAGCTCTCTCTTCCACTTTGAAGGTCCCCAAATCTGGCTTGTACCATTACAATAGTGACCTCACTTTGTTTAGAGAACAGATGGGTTCACCATATCCCTCTCTAGCCAGAAAGTTCTCACATCCAGAAGCCCTATCCATTCCAACCCAAAGGGTTCAGGAAGCACGTACTTCGATAATGAACTTGCACGGTAGATTCTTTGTCCTTGTATATATCTGTCCCATTACACCTATATATTCCTCGTGGGTCCAGGATGCGTTTTCCCAGGTCCAGTCTTGTAATGTCTGAGAGCAGTGTTCCCACCGTTCCCTCTACCCATGTGATGCTGGTATTGCAATTCACAAACACTCTGTCCTCAAGTTCCTCTATAGGTATCTTGAAGGGGCTCACTAAAGGGGAAAAAATATCACAGTTGGAGACAGCTCTTTGATCTGCACCAAGCCCTTTGTTCTGCGGAAGCTCATACTTAACAGAGACCATTTTCCTGGTCCAGGACAGTTTATGGCTTCCATCAAGAGAGACAGAAGTCACAAGAAAAAGCCTTCAGAAAGTTCCCCACCAACTGCAGGGGTCAAGGGGGACATGAGGATGCCATTCAAGCAGAGGACAGGTCTTGGGGCCTTGGTGCAAAAGAGGACCCCTCAGAGCAGGATTGACCCAAGCACCTTCCTGGAAATGAATCCAGACCACTGATGAGGAGTAGGGGGAGCACGGACCACTGAAGCACCTGGAAGATGTGGAAAGACAGAAGAACATTCCTCGATTGGAAATGTCTGCATTTTTTCTTCAAGGAAACATCTAATTCCACTTCCCAGCCATCTACAACACTCCCACTTCAGCTTCTTATCCTCATCCTTCCTCATTGCCCCTGCTCCATTGACAACCAAGAAAGCGGGGCTCTCAACACTGAAGCCTTTCCCAGGGCCAGGGATGGCTGTGGGTGGAGACCAGCTGGTTTACCAGCCCCTGAATTATCAGCCAAGTGGTCCAGAACGGGACCAGGGCAAATCCCATGTACAGTTTTCCACCCTTGGTTAGAAGGAGGAGAACAGGAAAAAAATTTTATTGAATCCATCCCTAGAGCTCCTCACAAGTCAAGTCTTGTGGGAGACTTTTAGGGCTGGAGGTGAGTGCAGCAACATTCCAGATGCAGTGAGTTCCTCTGACAGCCTGAGCACATCTCCACAGGCCACAGAGGCACTACAGTCTATGCCTCCAAACACAGGGAAAAGTGGAGGCTACATTCATTCATCCTGGGCTTCACACTAAGTCCCAAATTTGGATACAAGAGCATCTTCTAGAAAACCCTGAAACAGCTGTTGCTCACACTTCTGAAGCAGGTTGGAAGTATATGCATGTATCCTCAGGGAGACACATGCACATCAAATGCTTCACGTCCTACAGTCGCGTCCTCTTCAGGGATCTGTCTCCAGTGGAAATCCTGAGTGCCCTAGTGCAGCCAACTATTAGGTGACCATTGGACCCAGTTTGCTTAGTGTTGAAGGGGTTCCTCGGACATGGGACTTTCCATTTTAAAACTGAAATTGGCAAANN | benign | 188,507 |
Does the variant on chromosome 11 at location 118342589 affecting gene CD3D (CD3 delta subunit of T-cell receptor complex) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Immunodeficiency_19'] | ATTCACAAACACTCTGTCCTCAAGTTCCTCTATAGGTATCTTGAAGGGGCTCACTAAAGGGGAAAAAATATCACAGTTGGAGACAGCTCTTTGATCTGCACCAAGCCCTTTGTTCTGCGGAAGCTCATACTTAACAGAGACCATTTTCCTGGTCCAGGACAGTTTATGGCTTCCATCAAGAGAGACAGAAGTCACAAGAAAAAGCCTTCAGAAAGTTCCCCACCAACTGCAGGGGTCAAGGGGGACATGAGGATGCCATTCAAGCAGAGGACAGGTCTTGGGGCCTTGGTGCAAAAGAGGACCCCTCAGAGCAGGATTGACCCAAGCACCTTCCTGGAAATGAATCCAGACCACTGATGAGGAGTAGGGGGAGCACGGACCACTGAAGCACCTGGAAGATGTGGAAAGACAGAAGAACATTCCTCGATTGGAAATGTCTGCATTTTTTCTTCAAGGAAACATCTAATTCCACTTCCCAGCCATCTACAACACTCCCACTTCAGCTTCTTATCCTCATCCTTCCTCATTGCCCCTGCTCCATTGACAACCAAGAAAGCGGGGCTCTCAACACTGAAGCCTTTCCCAGGGCCAGGGATGGCTGTGGGTGGAGACCAGCTGGTTTACCAGCCCCTGAATTATCAGCCAAGTGGTCCAGAACGGGACCAGGGCAAATCCCATGTACAGTTTTCCACCCTTGGTTAGAAGGAGGAGAACAGGAAAAAAATTTTATTGAATCCATCCCTAGAGCTCCTCACAAGTCAAGTCTTGTGGGAGACTTTTAGGGCTGGAGGTGAGTGCAGCAACATTCCAGATGCAGTGAGTTCCTCTGACAGCCTGAGCACATCTCCACAGGCCACAGAGGCACTACAGTCTATGCCTCCAAACACAGGGAAAAGTGGAGGCTACATTCATTCATCCTGGGCTTCACACTAAGTCCCAAATTTGGATACAAGAGCATCTTCTAGAAAACCCTGAAACAGCTGTTGCTCACACTTCTGAAGCAGGTTGGAAGTATATGCATGTATCCTCAGGGAGACACATGCACATCAAATGCTTCACGTCCTACAGTCGCGTCCTCTTCAGGGATCTGTCTCCAGTGGAAATCCTGAGTGCCCTAGTGCAGCCAACTATTAGGTGACCATTGGACCCAGTTTGCTTAGTGTTGAAGGGGTTCCTCGGACATGGGACTTTCCATTTTAAAACTGAAATTGGCAAACTGAGATGAGTTAAAATCCTACCATGTAACAACCCCTCAAATCTTCCCTCCGTCCTGCTCAACCTAAAGTTAACTTCTCTTAAAGCATTCACATAAGTGCTAGGACATGCCTCCAGGGATGACATAATCATGGCCAAACAAACAAGAGTCCTGATTCCAGAGGCCATCAGGCCTAAAAGGAGTAGTGCAGGAAGCTGTGCTCCCATGGCCAGTCCCAGATTCAGGTACATACGTACTGAGCTATTTTCTGCAGATCTCTGGCCTAAGGCCTTCTGAGAGACATTCTAGGCCCACATGCACCCATGGCTGGAGTCAGTCAAAGCCAAGAGCCTGTTTCCCAGACTCTATGCTACATCCTGCCCCTGCCCTCCTGACACCCCTGGGGTGCCTGGTGAACTGAAGCTAGCACCGAGAAGCACTTTTTTTTTTTTTTGAGATAAGGTCTCACAGGTTGCCTAGGTTGGAGGGCAGTGGCATGATCACAGCTCACTGAAGCCTTGAAATCCCGGGCTCAAGTGACCCTCCTGCCTCAGCCTCTCAAATAGCTGGGACTACAGTTGTGCACCACCATGCCTGGCTAATTCTTTTGTTTTTTGTAAAGATAGAGTCTCATCATGTTGCTCAGACTGGTCTCAAACTCCTGGCCTCAAAGGATCCTCCCACTTCGGCCTCCCAAAGCTCTGGGATTACTGGTGTGAGCCACCGTGCCTGGCAAGAAACACTTTCAAGTGGGCCTCACTCCCATCAGTAATGTCCCTCTCAGGTCCCTTCCCCCACCCACCTGGAGTAGCCTTACCTTGCGAGAGAAGGGTAGCCAGTACCAGGCCAGAGAGAAACGTGCTATGTTCCATCTCCCAGCGGAACTCATCCAGTAGATAAAGCCAGGTCACCGAACTATCAGCCTGGGTGAGAGCTGCCCTCCCCTAGCTGACTCACAGGTACCGGAAAGAGGAGAGTGGGGGAGGAACTAGAAGATGTCTGCTTCTCTGCTTTCTGCCGTTGATGGTGGGAAATTTTCAGAGTGGGGGTGGGCTAGGGGTAGGGTAGGAAGGAAGCGGTGTAAATTGCTCTATCTCTGAGCAGGGAGCTGGCAGAGAATATGGAAAAGGTGGCCTGAACTTTAGCGTCCCTATTGACAATGCAACCACATTTACACACAACCTAAACACTGCCACATCTCGAAGCCCCTTGAGAGAAGCCGTCGGCCCCATAGCGCAAGCCGTAGCAGCTAGATTTCTCATGGAGGCTGATCTTTCTCAGGACCCTTCACTAGGCAGCCAGGGACACCAGATCTAGCAGCTTCTTGTCAGTGGGAGGTTGGGCTTTAGAGACCCCAGCCAGAGATTTGAATCCTGGGTCCAATACTGCCTACCTGTGGGGCCTGGGCCAGCCATAAAATTTTTCAGAGTCTTATTCCATTAGTACCATTATTAGGATTCAAACAAGATATTTGCATGGTGCCTCACGCATCATATGTGCTCATTAAGGGGTAGTTATTAATAATAATATAATTGACTGACAGGCAATATTGAGCCTCCCGGTGAGACAAATGGACCTTTTTCCCCTGTGGCCTACGAGGATCTGAAACTCTTCACGCTGCTGCAGTTAGACTGTCACTTACCTGGGGACAGAGTCATGCCTGTCTTGCTCACTGCTGTATCTTGTGCCTGGCACATAACGGGAGCTCTGCACATTTTTGTTGGCTCACTGACTGACTGGCTGAGGGAGATAGGGGCCTGAGATCCTGGACATTCAGTCCGGGCTCTGGCCCCTGAAAATGTGCTGGCCTGTCCTCGGAATTGTTCCACCTATTGCCTTCCAGGCGCCTCTTTCATGATCTCAAAAGAATAGTGAAACCAGGTGCCGTGTCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCTTGCTGGCACGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGAGGTGGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTCTGTCTCAAAAAAGAAAAAGAAAAAAAAAGTGAAAAAAATTCCTGAATGAAGGCCTGGACTGAGGTGGCTTTCCATTTGGAGGTCCAGCCCCAAGCATCTGAGAGTCCCTCCTAAATTCATTACCTACAGCAACAACAACTAGCAACAAGTAACAACTGGCTACGATCCTAACAACTAATGACAGGGACATTTATCTCCCTCATGAAGAAACGGTCCCAGGACCATCTCCCACCCAGCATCCATTGCGGTTCCCTGTGCAAGATGAGTCTCTGAGTGGGAATCCAGCACTCTCTCCCTCTTCTTCCCCACCACCTTCACCCTCCTTAACGGAAAAACAAAAGGCATCTGCACCTGCAGCCCTGCTGAGGCCCCTGCTGCTCACACTTGCAGCAGAGGGTGGAGGCTCTGGGTTCTTGCCTTCTCTCAAAGGCCCCAGCCCCAACAGTGATGGGTGGAGCCAGTCTAGCTGCTGCACAGGCTGGCTGGCTGGCTGGCTGCTAAGGGCTGCTCCACGCTTTTGCCGGAGGACAGAGACTGACATGGAACAGGGGAAGGGCCTGGCTGTCCTCATCCTGGCTATCATTCTTCTTCAAGGTAAGGGCCTACTAGGGGTCTGGAAGCCTGGGGAAGGGCTCAAGGGAAGAGCCCATCACTAGTGAGACAGGAATATTGGTATCCCTAACCTTCAGCCTACCTCTGCTGTCACCTTAGAGTTCAAAGAAGGGCAAAATGGAGGCTCTTAACTGTTCTCT | ATTCACAAACACTCTGTCCTCAAGTTCCTCTATAGGTATCTTGAAGGGGCTCACTAAAGGGGAAAAAATATCACAGTTGGAGACAGCTCTTTGATCTGCACCAAGCCCTTTGTTCTGCGGAAGCTCATACTTAACAGAGACCATTTTCCTGGTCCAGGACAGTTTATGGCTTCCATCAAGAGAGACAGAAGTCACAAGAAAAAGCCTTCAGAAAGTTCCCCACCAACTGCAGGGGTCAAGGGGGACATGAGGATGCCATTCAAGCAGAGGACAGGTCTTGGGGCCTTGGTGCAAAAGAGGACCCCTCAGAGCAGGATTGACCCAAGCACCTTCCTGGAAATGAATCCAGACCACTGATGAGGAGTAGGGGGAGCACGGACCACTGAAGCACCTGGAAGATGTGGAAAGACAGAAGAACATTCCTCGATTGGAAATGTCTGCATTTTTTCTTCAAGGAAACATCTAATTCCACTTCCCAGCCATCTACAACACTCCCACTTCAGCTTCTTATCCTCATCCTTCCTCATTGCCCCTGCTCCATTGACAACCAAGAAAGCGGGGCTCTCAACACTGAAGCCTTTCCCAGGGCCAGGGATGGCTGTGGGTGGAGACCAGCTGGTTTACCAGCCCCTGAATTATCAGCCAAGTGGTCCAGAACGGGACCAGGGCAAATCCCATGTACAGTTTTCCACCCTTGGTTAGAAGGAGGAGAACAGGAAAAAAATTTTATTGAATCCATCCCTAGAGCTCCTCACAAGTCAAGTCTTGTGGGAGACTTTTAGGGCTGGAGGTGAGTGCAGCAACATTCCAGATGCAGTGAGTTCCTCTGACAGCCTGAGCACATCTCCACAGGCCACAGAGGCACTACAGTCTATGCCTCCAAACACAGGGAAAAGTGGAGGCTACATTCATTCATCCTGGGCTTCACACTAAGTCCCAAATTTGGATACAAGAGCATCTTCTAGAAAACCCTGAAACAGCTGTTGCTCACACTTCTGAAGCAGGTTGGAAGTATATGCATGTATCCTCAGGGAGACACATGCACATCAAATGCTTCACGTCCTACAGTCGCGTCCTCTTCAGGGATCTGTCTCCAGTGGAAATCCTGAGTGCCCTAGTGCAGCCAACTATTAGGTGACCATTGGACCCAGTTTGCTTAGTGTTGAAGGGGTTCCTCGGACATGGGACTTTCCATTTTAAAACTGAAATTGGCAAACTGAGATGAGTTAAAATCCTACCATGTAACAACCCCTCAAATCTTCCCTCCGTCCTGCTCAACCTAAAGTTAACTTCTCTTAAAGCATTCACATAAGTGCTAGGACATGCCTCCAGGGATGACATAATCATGGCCAAACAAACAAGAGTCCTGATTCCAGAGGCCATCAGGCCTAAAAGGAGTAGTGCAGGAAGCTGTGCTCCCATGGCCAGTCCCAGATTCAGGTACATACGTACTGAGCTATTTTCTGCAGATCTCTGGCCTAAGGCCTTCTGAGAGACATTCTAGGCCCACATGCACCCATGGCTGGAGTCAGTCAAAGCCAAGAGCCTGTTTCCCAGACTCTATGCTACATCCTGCCCCTGCCCTCCTGACACCCCTGGGGTGCCTGGTGAACTGAAGCTAGCACCGAGAAGCACTTTTTTTTTTTTTTGAGATAAGGTCTCACAGGTTGCCTAGGTTGGAGGGCAGTGGCATGATCACAGCTCACTGAAGCCTTGAAATCCCGGGCTCAAGTGACCCTCCTGCCTCAGCCTCTCAAATAGCTGGGACTACAGTTGTGCACCACCATGCCTGGCTAATTCTTTTGTTTTTTGTAAAGATAGAGTCTCATCATGTTGCTCAGACTGGTCTCAAACTCCTGGCCTCAAAGGATCCTCCCACTTCGGCCTCCCAAAGCTCTGGGATTACTGGTGTGAGCCACCGTGCCTGGCAAGAAACACTTTCAAGTGGGCCTCACTCCCATCAGTAATGTCCCTCTCAGGTCCCTTCCCCCACCCACCTGGAGTAGCCTTACCTTGCGAGAGAAGGGTAGCCAGTACCAGGCCAGAGAGAAAACGTGCTATGTTCCATCTCCCAGCGGAACTCATCCAGTAGATAAAGCCAGGTCACCGAACTATCAGCCTGGGTGAGAGCTGCCCTCCCCTAGCTGACTCACAGGTACCGGAAAGAGGAGAGTGGGGGAGGAACTAGAAGATGTCTGCTTCTCTGCTTTCTGCCGTTGATGGTGGGAAATTTTCAGAGTGGGGGTGGGCTAGGGGTAGGGTAGGAAGGAAGCGGTGTAAATTGCTCTATCTCTGAGCAGGGAGCTGGCAGAGAATATGGAAAAGGTGGCCTGAACTTTAGCGTCCCTATTGACAATGCAACCACATTTACACACAACCTAAACACTGCCACATCTCGAAGCCCCTTGAGAGAAGCCGTCGGCCCCATAGCGCAAGCCGTAGCAGCTAGATTTCTCATGGAGGCTGATCTTTCTCAGGACCCTTCACTAGGCAGCCAGGGACACCAGATCTAGCAGCTTCTTGTCAGTGGGAGGTTGGGCTTTAGAGACCCCAGCCAGAGATTTGAATCCTGGGTCCAATACTGCCTACCTGTGGGGCCTGGGCCAGCCATAAAATTTTTCAGAGTCTTATTCCATTAGTACCATTATTAGGATTCAAACAAGATATTTGCATGGTGCCTCACGCATCATATGTGCTCATTAAGGGGTAGTTATTAATAATAATATAATTGACTGACAGGCAATATTGAGCCTCCCGGTGAGACAAATGGACCTTTTTCCCCTGTGGCCTACGAGGATCTGAAACTCTTCACGCTGCTGCAGTTAGACTGTCACTTACCTGGGGACAGAGTCATGCCTGTCTTGCTCACTGCTGTATCTTGTGCCTGGCACATAACGGGAGCTCTGCACATTTTTGTTGGCTCACTGACTGACTGGCTGAGGGAGATAGGGGCCTGAGATCCTGGACATTCAGTCCGGGCTCTGGCCCCTGAAAATGTGCTGGCCTGTCCTCGGAATTGTTCCACCTATTGCCTTCCAGGCGCCTCTTTCATGATCTCAAAAGAATAGTGAAACCAGGTGCCGTGTCTCACGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGACCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCTTGCTGGCACGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGAGGTGGAGGTTGCAGTGAGCTGAGATAGCGCCACTGCACTCCAGCCTGGGCAACAAAGTGAGACTCTGTCTCAAAAAAGAAAAAGAAAAAAAAAGTGAAAAAAATTCCTGAATGAAGGCCTGGACTGAGGTGGCTTTCCATTTGGAGGTCCAGCCCCAAGCATCTGAGAGTCCCTCCTAAATTCATTACCTACAGCAACAACAACTAGCAACAAGTAACAACTGGCTACGATCCTAACAACTAATGACAGGGACATTTATCTCCCTCATGAAGAAACGGTCCCAGGACCATCTCCCACCCAGCATCCATTGCGGTTCCCTGTGCAAGATGAGTCTCTGAGTGGGAATCCAGCACTCTCTCCCTCTTCTTCCCCACCACCTTCACCCTCCTTAACGGAAAAACAAAAGGCATCTGCACCTGCAGCCCTGCTGAGGCCCCTGCTGCTCACACTTGCAGCAGAGGGTGGAGGCTCTGGGTTCTTGCCTTCTCTCAAAGGCCCCAGCCCCAACAGTGATGGGTGGAGCCAGTCTAGCTGCTGCACAGGCTGGCTGGCTGGCTGGCTGCTAAGGGCTGCTCCACGCTTTTGCCGGAGGACAGAGACTGACATGGAACAGGGGAAGGGCCTGGCTGTCCTCATCCTGGCTATCATTCTTCTTCAAGGTAAGGGCCTACTAGGGGTCTGGAAGCCTGGGGAAGGGCTCAAGGGAAGAGCCCATCACTAGTGAGACAGGAATATTGGTATCCCTAACCTTCAGCCTACCTCTGCTGTCACCTTAGAGTTCAAAGAAGGGCAAAATGGAGGCTCTTAACTGTTCTC | pathogenic | 188,515 |
Regarding the variant at chromosome 11 and position 118349867, affecting gene CD3G: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Combined_immunodeficiency_due_to_CD3gamma_deficiency', 'Severe_combined_immunodeficiency_disease'] | CCATGTTGTCCAGGCTGGTGTCTAACTCCTGGGCTCAGGCAATCTGCCCACCTCAGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCTGCCAGTCAACTCTGAGTTATGAGACAGATTTGAGGACTAATTGAAAAGCTAACTTCCCTGGGACATCCAGGGTTTTTATAATAAAAGGATCACCAAGGCTGAATATTTTATAAGGAACTCAGCCTAAAGGTTTTGGATAGTGCACACCCACTCCTTGCCAGGGCATTAGCTGCTCAAGAAGCAGAGTGTTCTGGACTGGATAGGCAATATCCTTACTTACATATACTACAATACAATTCTGATGCTAACCCCCCAAATTAGTGTCAGACCCTACAGGTTAAGAGCATGGTTCCCAACCAGATTGCCCTCACTTTAAATGCCAGCTACAAGTTCAGGGTACCCCAGACCACTCACATTTCTGACAAACTGCCTGCAATCTTAAGGATTCCCATGACCCTCCTCATTGATAATTTGCTAGAATAACTCACAGAATTTAAGAAAGTGCTGTACTTCCTATTTCAGTTTTATTAAAAAATAAAATAAAATCAGAACCAGCTAAATGAAAAGGGCAAGGTCTAGGAGGGTCCCGAACACAGAGCCTCCGTGCCCTCTCCCCGTGGAATTAGAACACATCGCCCCCAGCACTCTCCCACACTCTGCCAGCACATTGATGGGTTCACCAACCAGGAAGCTCCACCAAGTTTTTATTGAGGTATCTTTACATAGGCATGATTGATTGAATCATTGGCCGCTTGACTGATCTCAATCTCTAGGATCCCTTCCTGGGGCTGATACCACTAGTTTCAAAGCTGCAATCCTCTTACCATATGGTTGGTCTTGACCAGCACCATCCTGAGTCATTGCCATGCATAAACTCAGGTATGGTCTAAGGATCCACCACAGATAACAAAGCCACTCCTGTCACTCATGAAATTCCAACGGTTAGAAACACCCTCCCAGGATACCAGGACAAAGATGAGACAAATTGTTTATTATCACCTTGAATTCAATTGAGTGATTTAGTCTACAATCCGGAAAACTAAGTATAGATACTACCATTTTCATGGATTTGGATCTTTCTTCATCTTGGCCTCAAATAACCATGGAAATACTTCAGGGCATCTGAACAACTCCATGCCCAGCTAATACTCTATCTCTCTTCTGTCTTTACAGGTACTTTGGCCCAGTCAATCAAAGGTAGGAGAAATGGCTTCTTTCTATACTCAGACTCAGAATATTGACGGAAATTTGGCTTCCTACAACAGTAGTCCTACAGGAGCGAACAGTTTAGAATGAATGAAATGACGGGGATAGAGAGGTGATGTCTCTATTGTCAACCAAATCAGTGACCTGACATAACCTGTTCCGGGCAGCTTGCCTGTAGCTAAGCATTTAACTGGTCTCTTACAGGAGAAGCAGGACCCTAGTAGCTAGGGACACATCTCAAACTGTGACCCATGAACCAGTAGGTATTGGCGTCACCTGGGATCCTGACGTTAGTCTCTGTCAATCCTTCTCTTTAGTTCATCTATTCTACCCAAAGTGATCTCATCATCTGGTATGCTGTTAGCAGTTTCTTACCTGTATAGTATCTTCCAAATAACATGCCCCAAAATCCCAAAGTTTTACCCCTACTAATTACAGCAATGTCTCTTTTATTCTTCACCCCCTGACGCAGATATTGGCGTCACCCGAGAGCATGTTAGTAATGCAGAATCTCCCCTCCCCAGAACTACTAAATAGCACCTGAAATTTTAACAAGATCCCCATGTGATTCATGTGCACATCAAAGTTTGAGAAACACTACTCTAATGATCTCCTGGTATGCAGAAGCAGGGAGAATTTCAGAGGCAAGATCCTTAATAGAACCACGGCTTTTCTCATTTCAGGAAACCACTTGGTTAAGGTGTATGACTATCAAGAAGATGGTTCGGTACTTCTGACTTGTGATGCAGAAGCCAAAAATATCACATGGTTTAAAGATGGGAAGATGATCGGCTTCCTAACTGAAGATAAAAAAAAATGGAATCTGGGAAGTAATGCCAAGGACCCTCGAGGGATGTATCAGTGTAAAGGATCACAGAACAAGTCAAAACCACTCCAAGTGTATTACAGAAGTATGTAATCCCCTTTGGTCTGTTTGTTGTGAAATTAATCAGTATTTGCTGTTCTGGTGAGCTTTTTATCTGGGGTGAAAGTGGAAATAGATCCTCAACAGTAATATTATCGCCTGTTCTCTTAATTTCAGCTTGCCTCTTTTAAAATACTGTAAGATACTTCCCTCACCCTATTGAAAAACTACAGCCAGTCCTGTAAAATTTTGTTTACCTTTGGGTGGGCTCCATGGATTCAAGCAATTCAGCACTGAGTTGAATGAAGGGGTTGGGGAGACAGAGGTGATCATAAGGTGAGCAGCAGTGAGAACTGGAGCGCAGTGGAGCATGAAGAGTATCTAGTCTTCCTTCTGTTCCAGATACTTCCTGGTAGTTAGACTACATGGGCTTCCCCAGGAATCCTGGGGGACTTAAGAGCATCAAGATGCATTGAGTTTTGGCGCAAGGATCTTCCCTTGCCCTGCCACCCACAGAGGAAAAGCCTGCTGCCCTCCACAGCGGCATTATTGCAGACAGGCAGGAGAAAACGAACCAGGAAAAACAACTTTCGCAACCTGAAGGTTTGTCTCTCCTTTTCCCTACAGTGTGTCAGAACTGCATTGAACTAAATGCAGCCACCATATCTGGCTTTCTCTTTGCTGAAATCGTCAGCATTTTCGTCCTTGCTGTTGGGGTCTACTTCATTGCTGGACAGGATGGAGTTCGCCAGTCGAGAGGTAAAAGAATGCTCTTAGATGAGAGATGGGACCACCTGAGACCCTCAGCTTTCCTCCTACCATTATGTACCCAATGGAAGAGACTGAGTTGGTGCTTCTTGCTAGTGTGCATAGTTGGGTGAGGCTGTATTTCTCTGAGACAGGAGAAAGGATACTTGGTGTTATCACAGCATGTTCACCTGTCTCAAGATACAGCTCCCTCTGTGAAAAAAAAAAAAAACAAAAACAGGCGCAGTGGCTCACGCCTGTAATCACAACACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAGCACGGTGAAACCCCGTCTTTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACTATTTTAAGTAAACCCTTACATACAGAAAAGTGAATCACAAGCATACAGCTCAAAAAAAAAATTCACAGAGCAAATACACCCATGCAGCCAGCACATAATTTAAGAAAGACAATATTACCAATGCCATTGAAGCCCCTCTTGTGGTCACTTCCAGCCACTACCCATCCTCAAGAGTGAGCATTGTCCTGACTTCTAACAACAAGGATTAACTTTGCTTGTTTTTGTCCTTTATGTAAATGGACTCATATACTAAGTATTCTTGTGAGTAGCTTCTTTCACTCAACAACATGTTTATGTGCTTTATCCATACTCTTGTGTATATATAAAACTCTTATTGTTATTTAGTATTCCATTTTGTGAATATAACCCAATTTATTATGCATTCTACCTTGTGTGGATTCTGTTTCTTTTTTGTGCAGCTTCAGACAAGCAGACTCTGTTGCCCAATGACCAGCTCTACCAGGTAAGGGGATGAAGAATAAAAGAGACATTGCTGTAATTAGTGGGGGTAAATCTTTGGGATTGAGGGGCATGTTATTTGGAAGATCCTATACAGGTAAGAAACTGCTAACAGCATACCAGATGATGAGATCAGTTTGGGTAGAATAAATGAACTAAAGAGAAGGATTGACAGAGACTGAGGTCAGGATCTAGTGAGCACAAGTTGAAGAACACACTGAGAGGGACACACGAAGAAACTCTCGAC | CCATGTTGTCCAGGCTGGTGTCTAACTCCTGGGCTCAGGCAATCTGCCCACCTCAGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCTGCCAGTCAACTCTGAGTTATGAGACAGATTTGAGGACTAATTGAAAAGCTAACTTCCCTGGGACATCCAGGGTTTTTATAATAAAAGGATCACCAAGGCTGAATATTTTATAAGGAACTCAGCCTAAAGGTTTTGGATAGTGCACACCCACTCCTTGCCAGGGCATTAGCTGCTCAAGAAGCAGAGTGTTCTGGACTGGATAGGCAATATCCTTACTTACATATACTACAATACAATTCTGATGCTAACCCCCCAAATTAGTGTCAGACCCTACAGGTTAAGAGCATGGTTCCCAACCAGATTGCCCTCACTTTAAATGCCAGCTACAAGTTCAGGGTACCCCAGACCACTCACATTTCTGACAAACTGCCTGCAATCTTAAGGATTCCCATGACCCTCCTCATTGATAATTTGCTAGAATAACTCACAGAATTTAAGAAAGTGCTGTACTTCCTATTTCAGTTTTATTAAAAAATAAAATAAAATCAGAACCAGCTAAATGAAAAGGGCAAGGTCTAGGAGGGTCCCGAACACAGAGCCTCCGTGCCCTCTCCCCGTGGAATTAGAACACATCGCCCCCAGCACTCTCCCACACTCTGCCAGCACATTGATGGGTTCACCAACCAGGAAGCTCCACCAAGTTTTTATTGAGGTATCTTTACATAGGCATGATTGATTGAATCATTGGCCGCTTGACTGATCTCAATCTCTAGGATCCCTTCCTGGGGCTGATACCACTAGTTTCAAAGCTGCAATCCTCTTACCATATGGTTGGTCTTGACCAGCACCATCCTGAGTCATTGCCATGCATAAACTCAGGTATGGTCTAAGGATCCACCACAGATAACAAAGCCACTCCTGTCACTCATGAAATTCCAACGGTTAGAAACACCCTCCCAGGATACCAGGACAAAGATGAGACAAATTGTTTATTATCACCTTGAATTCAATTGAGTGATTTAGTCTACAATCCGGAAAACTAAGTATAGATACTACCATTTTCATGGATTTGGATCTTTCTTCATCTTGGCCTCAAATAACCATGGAAATACTTCAGGGCATCTGAACAACTCCATGCCCAGCTAATACTCTATCTCTCTTCTGTCTTTACAGGTACTTTGGCCCAGTCAATCAAAGGTAGGAGAAATGGCTTCTTTCTATACTCAGACTCAGAATATTGACGGAAATTTGGCTTCCTACAACAGTAGTCCTACAGGAGCGAACAGTTTAGAATGAATGAAATGACGGGGATAGAGAGGTGATGTCTCTATTGTCAACCAAATCAGTGACCTGACATAACCTGTTCCGGGCAGCTTGCCTGTAGCTAAGCATTTAACTGGTCTCTTACAGGAGAAGCAGGACCCTAGTAGCTAGGGACACATCTCAAACTGTGACCCATGAACCAGTAGGTATTGGCGTCACCTGGGATCCTGACGTTAGTCTCTGTCAATCCTTCTCTTTAGTTCATCTATTCTACCCAAAGTGATCTCATCATCTGGTATGCTGTTAGCAGTTTCTTACCTGTATAGTATCTTCCAAATAACATGCCCCAAAATCCCAAAGTTTTACCCCTACTAATTACAGCAATGTCTCTTTTATTCTTCACCCCCTGACGCAGATATTGGCGTCACCCGAGAGCATGTTAGTAATGCAGAATCTCCCCTCCCCAGAACTACTAAATAGCACCTGAAATTTTAACAAGATCCCCATGTGATTCATGTGCACATCAAAGTTTGAGAAACACTACTCTAATGATCTCCTGGTATGCAGAAGCAGGGAGAATTTCAGAGGCAAGATCCTTAATAGAACCACGGCTTTTCTCATTTCAGGAAACCACTTGGTTAAGGTGTATGACTATCAAGAAGATGGTTCGGTACTTCTGACTTGTGATGCAGAAGCCAAAAATATCACATGGTTTAAAGATGGGAAGATGATCGGCTTCCTAACTGAAGATAAAAAAAAAATGGAATCTGGGAAGTAATGCCAAGGACCCTCGAGGGATGTATCAGTGTAAAGGATCACAGAACAAGTCAAAACCACTCCAAGTGTATTACAGAAGTATGTAATCCCCTTTGGTCTGTTTGTTGTGAAATTAATCAGTATTTGCTGTTCTGGTGAGCTTTTTATCTGGGGTGAAAGTGGAAATAGATCCTCAACAGTAATATTATCGCCTGTTCTCTTAATTTCAGCTTGCCTCTTTTAAAATACTGTAAGATACTTCCCTCACCCTATTGAAAAACTACAGCCAGTCCTGTAAAATTTTGTTTACCTTTGGGTGGGCTCCATGGATTCAAGCAATTCAGCACTGAGTTGAATGAAGGGGTTGGGGAGACAGAGGTGATCATAAGGTGAGCAGCAGTGAGAACTGGAGCGCAGTGGAGCATGAAGAGTATCTAGTCTTCCTTCTGTTCCAGATACTTCCTGGTAGTTAGACTACATGGGCTTCCCCAGGAATCCTGGGGGACTTAAGAGCATCAAGATGCATTGAGTTTTGGCGCAAGGATCTTCCCTTGCCCTGCCACCCACAGAGGAAAAGCCTGCTGCCCTCCACAGCGGCATTATTGCAGACAGGCAGGAGAAAACGAACCAGGAAAAACAACTTTCGCAACCTGAAGGTTTGTCTCTCCTTTTCCCTACAGTGTGTCAGAACTGCATTGAACTAAATGCAGCCACCATATCTGGCTTTCTCTTTGCTGAAATCGTCAGCATTTTCGTCCTTGCTGTTGGGGTCTACTTCATTGCTGGACAGGATGGAGTTCGCCAGTCGAGAGGTAAAAGAATGCTCTTAGATGAGAGATGGGACCACCTGAGACCCTCAGCTTTCCTCCTACCATTATGTACCCAATGGAAGAGACTGAGTTGGTGCTTCTTGCTAGTGTGCATAGTTGGGTGAGGCTGTATTTCTCTGAGACAGGAGAAAGGATACTTGGTGTTATCACAGCATGTTCACCTGTCTCAAGATACAGCTCCCTCTGTGAAAAAAAAAAAAAACAAAAACAGGCGCAGTGGCTCACGCCTGTAATCACAACACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAGCACGGTGAAACCCCGTCTTTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACTATTTTAAGTAAACCCTTACATACAGAAAAGTGAATCACAAGCATACAGCTCAAAAAAAAAATTCACAGAGCAAATACACCCATGCAGCCAGCACATAATTTAAGAAAGACAATATTACCAATGCCATTGAAGCCCCTCTTGTGGTCACTTCCAGCCACTACCCATCCTCAAGAGTGAGCATTGTCCTGACTTCTAACAACAAGGATTAACTTTGCTTGTTTTTGTCCTTTATGTAAATGGACTCATATACTAAGTATTCTTGTGAGTAGCTTCTTTCACTCAACAACATGTTTATGTGCTTTATCCATACTCTTGTGTATATATAAAACTCTTATTGTTATTTAGTATTCCATTTTGTGAATATAACCCAATTTATTATGCATTCTACCTTGTGTGGATTCTGTTTCTTTTTTGTGCAGCTTCAGACAAGCAGACTCTGTTGCCCAATGACCAGCTCTACCAGGTAAGGGGATGAAGAATAAAAGAGACATTGCTGTAATTAGTGGGGGTAAATCTTTGGGATTGAGGGGCATGTTATTTGGAAGATCCTATACAGGTAAGAAACTGCTAACAGCATACCAGATGATGAGATCAGTTTGGGTAGAATAAATGAACTAAAGAGAAGGATTGACAGAGACTGAGGTCAGGATCTAGTGAGCACAAGTTGAAGAACACACTGAGAGGGACACACGAAGAAACTCTCGA | pathogenic | 188,523 |
Mutation at chromosome 11, position 118349867, within CD3G: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Combined_immunodeficiency_due_to_CD3gamma_deficiency', 'Severe_combined_immunodeficiency_disease'] | CCATGTTGTCCAGGCTGGTGTCTAACTCCTGGGCTCAGGCAATCTGCCCACCTCAGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCTGCCAGTCAACTCTGAGTTATGAGACAGATTTGAGGACTAATTGAAAAGCTAACTTCCCTGGGACATCCAGGGTTTTTATAATAAAAGGATCACCAAGGCTGAATATTTTATAAGGAACTCAGCCTAAAGGTTTTGGATAGTGCACACCCACTCCTTGCCAGGGCATTAGCTGCTCAAGAAGCAGAGTGTTCTGGACTGGATAGGCAATATCCTTACTTACATATACTACAATACAATTCTGATGCTAACCCCCCAAATTAGTGTCAGACCCTACAGGTTAAGAGCATGGTTCCCAACCAGATTGCCCTCACTTTAAATGCCAGCTACAAGTTCAGGGTACCCCAGACCACTCACATTTCTGACAAACTGCCTGCAATCTTAAGGATTCCCATGACCCTCCTCATTGATAATTTGCTAGAATAACTCACAGAATTTAAGAAAGTGCTGTACTTCCTATTTCAGTTTTATTAAAAAATAAAATAAAATCAGAACCAGCTAAATGAAAAGGGCAAGGTCTAGGAGGGTCCCGAACACAGAGCCTCCGTGCCCTCTCCCCGTGGAATTAGAACACATCGCCCCCAGCACTCTCCCACACTCTGCCAGCACATTGATGGGTTCACCAACCAGGAAGCTCCACCAAGTTTTTATTGAGGTATCTTTACATAGGCATGATTGATTGAATCATTGGCCGCTTGACTGATCTCAATCTCTAGGATCCCTTCCTGGGGCTGATACCACTAGTTTCAAAGCTGCAATCCTCTTACCATATGGTTGGTCTTGACCAGCACCATCCTGAGTCATTGCCATGCATAAACTCAGGTATGGTCTAAGGATCCACCACAGATAACAAAGCCACTCCTGTCACTCATGAAATTCCAACGGTTAGAAACACCCTCCCAGGATACCAGGACAAAGATGAGACAAATTGTTTATTATCACCTTGAATTCAATTGAGTGATTTAGTCTACAATCCGGAAAACTAAGTATAGATACTACCATTTTCATGGATTTGGATCTTTCTTCATCTTGGCCTCAAATAACCATGGAAATACTTCAGGGCATCTGAACAACTCCATGCCCAGCTAATACTCTATCTCTCTTCTGTCTTTACAGGTACTTTGGCCCAGTCAATCAAAGGTAGGAGAAATGGCTTCTTTCTATACTCAGACTCAGAATATTGACGGAAATTTGGCTTCCTACAACAGTAGTCCTACAGGAGCGAACAGTTTAGAATGAATGAAATGACGGGGATAGAGAGGTGATGTCTCTATTGTCAACCAAATCAGTGACCTGACATAACCTGTTCCGGGCAGCTTGCCTGTAGCTAAGCATTTAACTGGTCTCTTACAGGAGAAGCAGGACCCTAGTAGCTAGGGACACATCTCAAACTGTGACCCATGAACCAGTAGGTATTGGCGTCACCTGGGATCCTGACGTTAGTCTCTGTCAATCCTTCTCTTTAGTTCATCTATTCTACCCAAAGTGATCTCATCATCTGGTATGCTGTTAGCAGTTTCTTACCTGTATAGTATCTTCCAAATAACATGCCCCAAAATCCCAAAGTTTTACCCCTACTAATTACAGCAATGTCTCTTTTATTCTTCACCCCCTGACGCAGATATTGGCGTCACCCGAGAGCATGTTAGTAATGCAGAATCTCCCCTCCCCAGAACTACTAAATAGCACCTGAAATTTTAACAAGATCCCCATGTGATTCATGTGCACATCAAAGTTTGAGAAACACTACTCTAATGATCTCCTGGTATGCAGAAGCAGGGAGAATTTCAGAGGCAAGATCCTTAATAGAACCACGGCTTTTCTCATTTCAGGAAACCACTTGGTTAAGGTGTATGACTATCAAGAAGATGGTTCGGTACTTCTGACTTGTGATGCAGAAGCCAAAAATATCACATGGTTTAAAGATGGGAAGATGATCGGCTTCCTAACTGAAGATAAAAAAAAATGGAATCTGGGAAGTAATGCCAAGGACCCTCGAGGGATGTATCAGTGTAAAGGATCACAGAACAAGTCAAAACCACTCCAAGTGTATTACAGAAGTATGTAATCCCCTTTGGTCTGTTTGTTGTGAAATTAATCAGTATTTGCTGTTCTGGTGAGCTTTTTATCTGGGGTGAAAGTGGAAATAGATCCTCAACAGTAATATTATCGCCTGTTCTCTTAATTTCAGCTTGCCTCTTTTAAAATACTGTAAGATACTTCCCTCACCCTATTGAAAAACTACAGCCAGTCCTGTAAAATTTTGTTTACCTTTGGGTGGGCTCCATGGATTCAAGCAATTCAGCACTGAGTTGAATGAAGGGGTTGGGGAGACAGAGGTGATCATAAGGTGAGCAGCAGTGAGAACTGGAGCGCAGTGGAGCATGAAGAGTATCTAGTCTTCCTTCTGTTCCAGATACTTCCTGGTAGTTAGACTACATGGGCTTCCCCAGGAATCCTGGGGGACTTAAGAGCATCAAGATGCATTGAGTTTTGGCGCAAGGATCTTCCCTTGCCCTGCCACCCACAGAGGAAAAGCCTGCTGCCCTCCACAGCGGCATTATTGCAGACAGGCAGGAGAAAACGAACCAGGAAAAACAACTTTCGCAACCTGAAGGTTTGTCTCTCCTTTTCCCTACAGTGTGTCAGAACTGCATTGAACTAAATGCAGCCACCATATCTGGCTTTCTCTTTGCTGAAATCGTCAGCATTTTCGTCCTTGCTGTTGGGGTCTACTTCATTGCTGGACAGGATGGAGTTCGCCAGTCGAGAGGTAAAAGAATGCTCTTAGATGAGAGATGGGACCACCTGAGACCCTCAGCTTTCCTCCTACCATTATGTACCCAATGGAAGAGACTGAGTTGGTGCTTCTTGCTAGTGTGCATAGTTGGGTGAGGCTGTATTTCTCTGAGACAGGAGAAAGGATACTTGGTGTTATCACAGCATGTTCACCTGTCTCAAGATACAGCTCCCTCTGTGAAAAAAAAAAAAAACAAAAACAGGCGCAGTGGCTCACGCCTGTAATCACAACACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAGCACGGTGAAACCCCGTCTTTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACTATTTTAAGTAAACCCTTACATACAGAAAAGTGAATCACAAGCATACAGCTCAAAAAAAAAATTCACAGAGCAAATACACCCATGCAGCCAGCACATAATTTAAGAAAGACAATATTACCAATGCCATTGAAGCCCCTCTTGTGGTCACTTCCAGCCACTACCCATCCTCAAGAGTGAGCATTGTCCTGACTTCTAACAACAAGGATTAACTTTGCTTGTTTTTGTCCTTTATGTAAATGGACTCATATACTAAGTATTCTTGTGAGTAGCTTCTTTCACTCAACAACATGTTTATGTGCTTTATCCATACTCTTGTGTATATATAAAACTCTTATTGTTATTTAGTATTCCATTTTGTGAATATAACCCAATTTATTATGCATTCTACCTTGTGTGGATTCTGTTTCTTTTTTGTGCAGCTTCAGACAAGCAGACTCTGTTGCCCAATGACCAGCTCTACCAGGTAAGGGGATGAAGAATAAAAGAGACATTGCTGTAATTAGTGGGGGTAAATCTTTGGGATTGAGGGGCATGTTATTTGGAAGATCCTATACAGGTAAGAAACTGCTAACAGCATACCAGATGATGAGATCAGTTTGGGTAGAATAAATGAACTAAAGAGAAGGATTGACAGAGACTGAGGTCAGGATCTAGTGAGCACAAGTTGAAGAACACACTGAGAGGGACACACGAAGAAACTCTCGAC | CCATGTTGTCCAGGCTGGTGTCTAACTCCTGGGCTCAGGCAATCTGCCCACCTCAGCATCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCTGCCAGTCAACTCTGAGTTATGAGACAGATTTGAGGACTAATTGAAAAGCTAACTTCCCTGGGACATCCAGGGTTTTTATAATAAAAGGATCACCAAGGCTGAATATTTTATAAGGAACTCAGCCTAAAGGTTTTGGATAGTGCACACCCACTCCTTGCCAGGGCATTAGCTGCTCAAGAAGCAGAGTGTTCTGGACTGGATAGGCAATATCCTTACTTACATATACTACAATACAATTCTGATGCTAACCCCCCAAATTAGTGTCAGACCCTACAGGTTAAGAGCATGGTTCCCAACCAGATTGCCCTCACTTTAAATGCCAGCTACAAGTTCAGGGTACCCCAGACCACTCACATTTCTGACAAACTGCCTGCAATCTTAAGGATTCCCATGACCCTCCTCATTGATAATTTGCTAGAATAACTCACAGAATTTAAGAAAGTGCTGTACTTCCTATTTCAGTTTTATTAAAAAATAAAATAAAATCAGAACCAGCTAAATGAAAAGGGCAAGGTCTAGGAGGGTCCCGAACACAGAGCCTCCGTGCCCTCTCCCCGTGGAATTAGAACACATCGCCCCCAGCACTCTCCCACACTCTGCCAGCACATTGATGGGTTCACCAACCAGGAAGCTCCACCAAGTTTTTATTGAGGTATCTTTACATAGGCATGATTGATTGAATCATTGGCCGCTTGACTGATCTCAATCTCTAGGATCCCTTCCTGGGGCTGATACCACTAGTTTCAAAGCTGCAATCCTCTTACCATATGGTTGGTCTTGACCAGCACCATCCTGAGTCATTGCCATGCATAAACTCAGGTATGGTCTAAGGATCCACCACAGATAACAAAGCCACTCCTGTCACTCATGAAATTCCAACGGTTAGAAACACCCTCCCAGGATACCAGGACAAAGATGAGACAAATTGTTTATTATCACCTTGAATTCAATTGAGTGATTTAGTCTACAATCCGGAAAACTAAGTATAGATACTACCATTTTCATGGATTTGGATCTTTCTTCATCTTGGCCTCAAATAACCATGGAAATACTTCAGGGCATCTGAACAACTCCATGCCCAGCTAATACTCTATCTCTCTTCTGTCTTTACAGGTACTTTGGCCCAGTCAATCAAAGGTAGGAGAAATGGCTTCTTTCTATACTCAGACTCAGAATATTGACGGAAATTTGGCTTCCTACAACAGTAGTCCTACAGGAGCGAACAGTTTAGAATGAATGAAATGACGGGGATAGAGAGGTGATGTCTCTATTGTCAACCAAATCAGTGACCTGACATAACCTGTTCCGGGCAGCTTGCCTGTAGCTAAGCATTTAACTGGTCTCTTACAGGAGAAGCAGGACCCTAGTAGCTAGGGACACATCTCAAACTGTGACCCATGAACCAGTAGGTATTGGCGTCACCTGGGATCCTGACGTTAGTCTCTGTCAATCCTTCTCTTTAGTTCATCTATTCTACCCAAAGTGATCTCATCATCTGGTATGCTGTTAGCAGTTTCTTACCTGTATAGTATCTTCCAAATAACATGCCCCAAAATCCCAAAGTTTTACCCCTACTAATTACAGCAATGTCTCTTTTATTCTTCACCCCCTGACGCAGATATTGGCGTCACCCGAGAGCATGTTAGTAATGCAGAATCTCCCCTCCCCAGAACTACTAAATAGCACCTGAAATTTTAACAAGATCCCCATGTGATTCATGTGCACATCAAAGTTTGAGAAACACTACTCTAATGATCTCCTGGTATGCAGAAGCAGGGAGAATTTCAGAGGCAAGATCCTTAATAGAACCACGGCTTTTCTCATTTCAGGAAACCACTTGGTTAAGGTGTATGACTATCAAGAAGATGGTTCGGTACTTCTGACTTGTGATGCAGAAGCCAAAAATATCACATGGTTTAAAGATGGGAAGATGATCGGCTTCCTAACTGAAGATAAAAAAAATGGAATCTGGGAAGTAATGCCAAGGACCCTCGAGGGATGTATCAGTGTAAAGGATCACAGAACAAGTCAAAACCACTCCAAGTGTATTACAGAAGTATGTAATCCCCTTTGGTCTGTTTGTTGTGAAATTAATCAGTATTTGCTGTTCTGGTGAGCTTTTTATCTGGGGTGAAAGTGGAAATAGATCCTCAACAGTAATATTATCGCCTGTTCTCTTAATTTCAGCTTGCCTCTTTTAAAATACTGTAAGATACTTCCCTCACCCTATTGAAAAACTACAGCCAGTCCTGTAAAATTTTGTTTACCTTTGGGTGGGCTCCATGGATTCAAGCAATTCAGCACTGAGTTGAATGAAGGGGTTGGGGAGACAGAGGTGATCATAAGGTGAGCAGCAGTGAGAACTGGAGCGCAGTGGAGCATGAAGAGTATCTAGTCTTCCTTCTGTTCCAGATACTTCCTGGTAGTTAGACTACATGGGCTTCCCCAGGAATCCTGGGGGACTTAAGAGCATCAAGATGCATTGAGTTTTGGCGCAAGGATCTTCCCTTGCCCTGCCACCCACAGAGGAAAAGCCTGCTGCCCTCCACAGCGGCATTATTGCAGACAGGCAGGAGAAAACGAACCAGGAAAAACAACTTTCGCAACCTGAAGGTTTGTCTCTCCTTTTCCCTACAGTGTGTCAGAACTGCATTGAACTAAATGCAGCCACCATATCTGGCTTTCTCTTTGCTGAAATCGTCAGCATTTTCGTCCTTGCTGTTGGGGTCTACTTCATTGCTGGACAGGATGGAGTTCGCCAGTCGAGAGGTAAAAGAATGCTCTTAGATGAGAGATGGGACCACCTGAGACCCTCAGCTTTCCTCCTACCATTATGTACCCAATGGAAGAGACTGAGTTGGTGCTTCTTGCTAGTGTGCATAGTTGGGTGAGGCTGTATTTCTCTGAGACAGGAGAAAGGATACTTGGTGTTATCACAGCATGTTCACCTGTCTCAAGATACAGCTCCCTCTGTGAAAAAAAAAAAAAACAAAAACAGGCGCAGTGGCTCACGCCTGTAATCACAACACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAGCACGGTGAAACCCCGTCTTTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACTATTTTAAGTAAACCCTTACATACAGAAAAGTGAATCACAAGCATACAGCTCAAAAAAAAAATTCACAGAGCAAATACACCCATGCAGCCAGCACATAATTTAAGAAAGACAATATTACCAATGCCATTGAAGCCCCTCTTGTGGTCACTTCCAGCCACTACCCATCCTCAAGAGTGAGCATTGTCCTGACTTCTAACAACAAGGATTAACTTTGCTTGTTTTTGTCCTTTATGTAAATGGACTCATATACTAAGTATTCTTGTGAGTAGCTTCTTTCACTCAACAACATGTTTATGTGCTTTATCCATACTCTTGTGTATATATAAAACTCTTATTGTTATTTAGTATTCCATTTTGTGAATATAACCCAATTTATTATGCATTCTACCTTGTGTGGATTCTGTTTCTTTTTTGTGCAGCTTCAGACAAGCAGACTCTGTTGCCCAATGACCAGCTCTACCAGGTAAGGGGATGAAGAATAAAAGAGACATTGCTGTAATTAGTGGGGGTAAATCTTTGGGATTGAGGGGCATGTTATTTGGAAGATCCTATACAGGTAAGAAACTGCTAACAGCATACCAGATGATGAGATCAGTTTGGGTAGAATAAATGAACTAAAGAGAAGGATTGACAGAGACTGAGGTCAGGATCTAGTGAGCACAAGTTGAAGAACACACTGAGAGGGACACACGAAGAAACTCTCGACN | pathogenic | 188,524 |
Determine whether the variant at chromosome 11, position 118350634, in gene CD3G is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TTGATTGAATCATTGGCCGCTTGACTGATCTCAATCTCTAGGATCCCTTCCTGGGGCTGATACCACTAGTTTCAAAGCTGCAATCCTCTTACCATATGGTTGGTCTTGACCAGCACCATCCTGAGTCATTGCCATGCATAAACTCAGGTATGGTCTAAGGATCCACCACAGATAACAAAGCCACTCCTGTCACTCATGAAATTCCAACGGTTAGAAACACCCTCCCAGGATACCAGGACAAAGATGAGACAAATTGTTTATTATCACCTTGAATTCAATTGAGTGATTTAGTCTACAATCCGGAAAACTAAGTATAGATACTACCATTTTCATGGATTTGGATCTTTCTTCATCTTGGCCTCAAATAACCATGGAAATACTTCAGGGCATCTGAACAACTCCATGCCCAGCTAATACTCTATCTCTCTTCTGTCTTTACAGGTACTTTGGCCCAGTCAATCAAAGGTAGGAGAAATGGCTTCTTTCTATACTCAGACTCAGAATATTGACGGAAATTTGGCTTCCTACAACAGTAGTCCTACAGGAGCGAACAGTTTAGAATGAATGAAATGACGGGGATAGAGAGGTGATGTCTCTATTGTCAACCAAATCAGTGACCTGACATAACCTGTTCCGGGCAGCTTGCCTGTAGCTAAGCATTTAACTGGTCTCTTACAGGAGAAGCAGGACCCTAGTAGCTAGGGACACATCTCAAACTGTGACCCATGAACCAGTAGGTATTGGCGTCACCTGGGATCCTGACGTTAGTCTCTGTCAATCCTTCTCTTTAGTTCATCTATTCTACCCAAAGTGATCTCATCATCTGGTATGCTGTTAGCAGTTTCTTACCTGTATAGTATCTTCCAAATAACATGCCCCAAAATCCCAAAGTTTTACCCCTACTAATTACAGCAATGTCTCTTTTATTCTTCACCCCCTGACGCAGATATTGGCGTCACCCGAGAGCATGTTAGTAATGCAGAATCTCCCCTCCCCAGAACTACTAAATAGCACCTGAAATTTTAACAAGATCCCCATGTGATTCATGTGCACATCAAAGTTTGAGAAACACTACTCTAATGATCTCCTGGTATGCAGAAGCAGGGAGAATTTCAGAGGCAAGATCCTTAATAGAACCACGGCTTTTCTCATTTCAGGAAACCACTTGGTTAAGGTGTATGACTATCAAGAAGATGGTTCGGTACTTCTGACTTGTGATGCAGAAGCCAAAAATATCACATGGTTTAAAGATGGGAAGATGATCGGCTTCCTAACTGAAGATAAAAAAAAATGGAATCTGGGAAGTAATGCCAAGGACCCTCGAGGGATGTATCAGTGTAAAGGATCACAGAACAAGTCAAAACCACTCCAAGTGTATTACAGAAGTATGTAATCCCCTTTGGTCTGTTTGTTGTGAAATTAATCAGTATTTGCTGTTCTGGTGAGCTTTTTATCTGGGGTGAAAGTGGAAATAGATCCTCAACAGTAATATTATCGCCTGTTCTCTTAATTTCAGCTTGCCTCTTTTAAAATACTGTAAGATACTTCCCTCACCCTATTGAAAAACTACAGCCAGTCCTGTAAAATTTTGTTTACCTTTGGGTGGGCTCCATGGATTCAAGCAATTCAGCACTGAGTTGAATGAAGGGGTTGGGGAGACAGAGGTGATCATAAGGTGAGCAGCAGTGAGAACTGGAGCGCAGTGGAGCATGAAGAGTATCTAGTCTTCCTTCTGTTCCAGATACTTCCTGGTAGTTAGACTACATGGGCTTCCCCAGGAATCCTGGGGGACTTAAGAGCATCAAGATGCATTGAGTTTTGGCGCAAGGATCTTCCCTTGCCCTGCCACCCACAGAGGAAAAGCCTGCTGCCCTCCACAGCGGCATTATTGCAGACAGGCAGGAGAAAACGAACCAGGAAAAACAACTTTCGCAACCTGAAGGTTTGTCTCTCCTTTTCCCTACAGTGTGTCAGAACTGCATTGAACTAAATGCAGCCACCATATCTGGCTTTCTCTTTGCTGAAATCGTCAGCATTTTCGTCCTTGCTGTTGGGGTCTACTTCATTGCTGGACAGGATGGAGTTCGCCAGTCGAGAGGTAAAAGAATGCTCTTAGATGAGAGATGGGACCACCTGAGACCCTCAGCTTTCCTCCTACCATTATGTACCCAATGGAAGAGACTGAGTTGGTGCTTCTTGCTAGTGTGCATAGTTGGGTGAGGCTGTATTTCTCTGAGACAGGAGAAAGGATACTTGGTGTTATCACAGCATGTTCACCTGTCTCAAGATACAGCTCCCTCTGTGAAAAAAAAAAAAAACAAAAACAGGCGCAGTGGCTCACGCCTGTAATCACAACACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAGCACGGTGAAACCCCGTCTTTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACTATTTTAAGTAAACCCTTACATACAGAAAAGTGAATCACAAGCATACAGCTCAAAAAAAAAATTCACAGAGCAAATACACCCATGCAGCCAGCACATAATTTAAGAAAGACAATATTACCAATGCCATTGAAGCCCCTCTTGTGGTCACTTCCAGCCACTACCCATCCTCAAGAGTGAGCATTGTCCTGACTTCTAACAACAAGGATTAACTTTGCTTGTTTTTGTCCTTTATGTAAATGGACTCATATACTAAGTATTCTTGTGAGTAGCTTCTTTCACTCAACAACATGTTTATGTGCTTTATCCATACTCTTGTGTATATATAAAACTCTTATTGTTATTTAGTATTCCATTTTGTGAATATAACCCAATTTATTATGCATTCTACCTTGTGTGGATTCTGTTTCTTTTTTGTGCAGCTTCAGACAAGCAGACTCTGTTGCCCAATGACCAGCTCTACCAGGTAAGGGGATGAAGAATAAAAGAGACATTGCTGTAATTAGTGGGGGTAAATCTTTGGGATTGAGGGGCATGTTATTTGGAAGATCCTATACAGGTAAGAAACTGCTAACAGCATACCAGATGATGAGATCAGTTTGGGTAGAATAAATGAACTAAAGAGAAGGATTGACAGAGACTGAGGTCAGGATCTAGTGAGCACAAGTTGAAGAACACACTGAGAGGGACACACGAAGAAACTCTCGACAGGCTGGGCACTCACTATAGACAGGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAAACAGGTGAATCACCTGAGGTCAGGAATTCGAGACAAGCCTGGCCAACATGATGAAACTCTGTCTCTACTAAAAATACAAAAAAAATTAACCAGGCGTGGAGGCGCGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGACCACTTGAACCCAGGAGGTCGAGGTTGCAGTGAGCTGCGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAGAGAGAGAGAGAAAAAGAAAAAAGACAGAGCCTCCATCTCCTTGTCCTCTTTCCATCCTCAGGACCATGAAGTACCCACTCCAAATTCTCACATATAAAAAACATTCAATAAACATGCATCAAATTAATTAATAGAGGATGGAAAAAATGACTTATGACTGTGCTGTCCTTTCCAGCCCCTCAAGGATCGAGAAGATGACCAGTACAGCCACCTTCAAGGAAACCAGTTGAGGAGGAATTGAACTCAGGACTCAGAGTAGGTGGGTTCTTCAATGCCAATTCTAATAAAGGACCCTTGCATCAACTGCCCTCGCAATTGCTTCTAAGTCTAGCTCCCTTCCCTAAGCGGCTATAAGCATCAGACTCTGGGGATCAGGGATTGGGACGTGGTTTGGGGTACTCTTTTCTAAAAATTCTGGGGCCATACTGATTGTCTTGGCCTAGGTAAATATGA | TTGATTGAATCATTGGCCGCTTGACTGATCTCAATCTCTAGGATCCCTTCCTGGGGCTGATACCACTAGTTTCAAAGCTGCAATCCTCTTACCATATGGTTGGTCTTGACCAGCACCATCCTGAGTCATTGCCATGCATAAACTCAGGTATGGTCTAAGGATCCACCACAGATAACAAAGCCACTCCTGTCACTCATGAAATTCCAACGGTTAGAAACACCCTCCCAGGATACCAGGACAAAGATGAGACAAATTGTTTATTATCACCTTGAATTCAATTGAGTGATTTAGTCTACAATCCGGAAAACTAAGTATAGATACTACCATTTTCATGGATTTGGATCTTTCTTCATCTTGGCCTCAAATAACCATGGAAATACTTCAGGGCATCTGAACAACTCCATGCCCAGCTAATACTCTATCTCTCTTCTGTCTTTACAGGTACTTTGGCCCAGTCAATCAAAGGTAGGAGAAATGGCTTCTTTCTATACTCAGACTCAGAATATTGACGGAAATTTGGCTTCCTACAACAGTAGTCCTACAGGAGCGAACAGTTTAGAATGAATGAAATGACGGGGATAGAGAGGTGATGTCTCTATTGTCAACCAAATCAGTGACCTGACATAACCTGTTCCGGGCAGCTTGCCTGTAGCTAAGCATTTAACTGGTCTCTTACAGGAGAAGCAGGACCCTAGTAGCTAGGGACACATCTCAAACTGTGACCCATGAACCAGTAGGTATTGGCGTCACCTGGGATCCTGACGTTAGTCTCTGTCAATCCTTCTCTTTAGTTCATCTATTCTACCCAAAGTGATCTCATCATCTGGTATGCTGTTAGCAGTTTCTTACCTGTATAGTATCTTCCAAATAACATGCCCCAAAATCCCAAAGTTTTACCCCTACTAATTACAGCAATGTCTCTTTTATTCTTCACCCCCTGACGCAGATATTGGCGTCACCCGAGAGCATGTTAGTAATGCAGAATCTCCCCTCCCCAGAACTACTAAATAGCACCTGAAATTTTAACAAGATCCCCATGTGATTCATGTGCACATCAAAGTTTGAGAAACACTACTCTAATGATCTCCTGGTATGCAGAAGCAGGGAGAATTTCAGAGGCAAGATCCTTAATAGAACCACGGCTTTTCTCATTTCAGGAAACCACTTGGTTAAGGTGTATGACTATCAAGAAGATGGTTCGGTACTTCTGACTTGTGATGCAGAAGCCAAAAATATCACATGGTTTAAAGATGGGAAGATGATCGGCTTCCTAACTGAAGATAAAAAAAAATGGAATCTGGGAAGTAATGCCAAGGACCCTCGAGGGATGTATCAGTGTAAAGGATCACAGAACAAGTCAAAACCACTCCAAGTGTATTACAGAAGTATGTAATCCCCTTTGGTCTGTTTGTTGTGAAATTAATCAGTATTTGCTGTTCTGGTGAGCTTTTTATCTGGGGTGAAAGTGGAAATAGATCCTCAACAGTAATATTATCGCCTGTTCTCTTAATTTCAGCTTGCCTCTTTTAAAATACTGTAAGATACTTCCCTCACCCTATTGAAAAACTACAGCCAGTCCTGTAAAATTTTGTTTACCTTTGGGTGGGCTCCATGGATTCAAGCAATTCAGCACTGAGTTGAATGAAGGGGTTGGGGAGACAGAGGTGATCATAAGGTGAGCAGCAGTGAGAACTGGAGCGCAGTGGAGCATGAAGAGTATCTAGTCTTCCTTCTGTTCCAGATACTTCCTGGTAGTTAGACTACATGGGCTTCCCCAGGAATCCTGGGGGACTTAAGAGCATCAAGATGCATTGAGTTTTGGCGCAAGGATCTTCCCTTGCCCTGCCACCCACAGAGGAAAAGCCTGCTGCCCTCCACAGCGGCATTATTGCAGACAGGCAGGAGAAAACGAACCAGGAAAAACAACTTTCGCAACCTGAAGGTTTGTCTCTCCTTTTCCCTACAGTGTGTCAGAACTGCATTGAACTAAATGCAGCCACCATATCTGGCTTTCTCTTTGCTGAAATCGTCAGCATTTTCGTCCTTGCCTTTGGGGTCTACTTCATTGCTGGACAGGATGGAGTTCGCCAGTCGAGAGGTAAAAGAATGCTCTTAGATGAGAGATGGGACCACCTGAGACCCTCAGCTTTCCTCCTACCATTATGTACCCAATGGAAGAGACTGAGTTGGTGCTTCTTGCTAGTGTGCATAGTTGGGTGAGGCTGTATTTCTCTGAGACAGGAGAAAGGATACTTGGTGTTATCACAGCATGTTCACCTGTCTCAAGATACAGCTCCCTCTGTGAAAAAAAAAAAAAACAAAAACAGGCGCAGTGGCTCACGCCTGTAATCACAACACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAGCACGGTGAAACCCCGTCTTTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACTATTTTAAGTAAACCCTTACATACAGAAAAGTGAATCACAAGCATACAGCTCAAAAAAAAAATTCACAGAGCAAATACACCCATGCAGCCAGCACATAATTTAAGAAAGACAATATTACCAATGCCATTGAAGCCCCTCTTGTGGTCACTTCCAGCCACTACCCATCCTCAAGAGTGAGCATTGTCCTGACTTCTAACAACAAGGATTAACTTTGCTTGTTTTTGTCCTTTATGTAAATGGACTCATATACTAAGTATTCTTGTGAGTAGCTTCTTTCACTCAACAACATGTTTATGTGCTTTATCCATACTCTTGTGTATATATAAAACTCTTATTGTTATTTAGTATTCCATTTTGTGAATATAACCCAATTTATTATGCATTCTACCTTGTGTGGATTCTGTTTCTTTTTTGTGCAGCTTCAGACAAGCAGACTCTGTTGCCCAATGACCAGCTCTACCAGGTAAGGGGATGAAGAATAAAAGAGACATTGCTGTAATTAGTGGGGGTAAATCTTTGGGATTGAGGGGCATGTTATTTGGAAGATCCTATACAGGTAAGAAACTGCTAACAGCATACCAGATGATGAGATCAGTTTGGGTAGAATAAATGAACTAAAGAGAAGGATTGACAGAGACTGAGGTCAGGATCTAGTGAGCACAAGTTGAAGAACACACTGAGAGGGACACACGAAGAAACTCTCGACAGGCTGGGCACTCACTATAGACAGGCCATGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCAAAACAGGTGAATCACCTGAGGTCAGGAATTCGAGACAAGCCTGGCCAACATGATGAAACTCTGTCTCTACTAAAAATACAAAAAAAATTAACCAGGCGTGGAGGCGCGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGACCACTTGAACCCAGGAGGTCGAGGTTGCAGTGAGCTGCGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGAAAGACTCCGTCTCAAAAAAAAAAAAGAGAGAGAGAGAAAAAGAAAAAAGACAGAGCCTCCATCTCCTTGTCCTCTTTCCATCCTCAGGACCATGAAGTACCCACTCCAAATTCTCACATATAAAAAACATTCAATAAACATGCATCAAATTAATTAATAGAGGATGGAAAAAATGACTTATGACTGTGCTGTCCTTTCCAGCCCCTCAAGGATCGAGAAGATGACCAGTACAGCCACCTTCAAGGAAACCAGTTGAGGAGGAATTGAACTCAGGACTCAGAGTAGGTGGGTTCTTCAATGCCAATTCTAATAAAGGACCCTTGCATCAACTGCCCTCGCAATTGCTTCTAAGTCTAGCTCCCTTCCCTAAGCGGCTATAAGCATCAGACTCTGGGGATCAGGGATTGGGACGTGGTTTGGGGTACTCTTTTCTAAAAATTCTGGGGCCATACTGATTGTCTTGGCCTAGGTAAATATGA | benign | 188,527 |
Determine whether the variant at chromosome 11, position 118384947, in gene UBE4A is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GCCAGGCTTGATGATAAGTGCTTTTTTTTTTTTTTTAACATTATCCCATTGTCACCATTGGAAAAGTTTCACTCTATTATCCCTGTTTTATTTATTTTTTATTTTTTAATTATTCTTGTTTTACATATGAAGACATGACTGCCCAAAAGATCAGTTTGTCCATGTCATAACAAACTACCAAGTGGTAGAATCAGGTCTGTGTCACCTAAAGAAATCTACATATTCAACACCCTTATTATGTTGCATCATCAAATCAGACTCAAATTAGACTATTTGGGTCTTTATATTTCTCTGCCTTAAAATTACAGAATAGTGCATAAAGAGGCAGTGTATTGGTTGAGAGATTCTTTTATCTTAACCAGACTATCTAACTCTCCAACAGTCTAATGGTTCGATTAAAAATACCAGCAGGCGGACAGGCACAGTGGCTCATGCTTGTAATCCCAGCGTTTTGGGAGGCCAAAGTAGGCAGATCACTTGAGCTCCTGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCATTCTCTACAAAAATACAAAAATTACCCAGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTTAGGAGGCAGAGGCACGAGAATTGCTTGAATTCGGGAGGCAGAGGTGGCAGTGAGCTGAGATCGCACCACTCCAGCCTGGATGACAGAGCAAGAAATCCCTCTCAAAAAAAAAAAAAAAAAAAAAAAACCAGCAGGCAACATTCCCTCTCTATCTAACCCTGAGCCCCTGTGTTTGTTTAAACAGTACCCTGTCTCAATCAGTAAATAAGATATGTTAAGAAGTTGTTGAAGACCATTTTTTAAAGGGATATCTACCATCCAATGATAAATACAACTAACATTTAAAGAGGCATTTAACATTTTACTGGCCGCCTTTCCATATTTGGATTCTGGTTTTTTTTAATTCGCTCACCTATCAACCTTAGTTTCCTCATCTATAAAATGGGTCAAAGTGATGATTAAGTGAAATAATGCATGTAAATCTTTATAATACATAAGAAATTGTATAATAAATCATTGCAGTTATCTCGTTATGTGACCATACAACCAAAGTGTTGTAATGGAGTACAATTTCTGTTTTATTTCTGAGGAAGTGGAAGCTGAAGAAGATTAAGAGACTTAGATTAAGCAGAGCCAGAATGAAAACGTAGGTCTTTTGACTCCAAATCCTACACTCTTCCTTTATTATGACCCAGCCTGTGGAGCTCTAGTAATACCTTTGGTATTTCAAAAGCAGTATAAGCCTCAGATTTTTAGCTCCTGACCTGATTTTTCAGAGTAATCAAGAACCTGTTGGCTACACAGTTTGGGATATTGTCTGTGAAGAATGTGGGAATTGCTTAGTGTCCCGTCCTGCACATGGCTTTCACTGCCATAATGGCCAGCCCTGAGCCCTCATTTAAAGCCTGAGAAGTACTCATGTTTGGATATGGAAACATTTGTTTCCCTTAACTTTTATTTTACAGCTTGGTACTTGTCTCTTGCAGAGTAAGGTATCCTTTATCTCTGTCTCCCCCTTACTTCATCAGTAAGGAAATGAGCAAACACTTGGCGATAACTCTAGGCCTTTAGAAACTCCAGGGCAGATTTTGTTAGTAGCCTTAACACACTCAAAAGCAAATGACTACAAAGCAAATGGCTACACATAAGCATAAACTCTTCCTCTTATGGCACCGCCTTTGCTGATATTTCGCTCTTGCCTTACTCCAGGAGACCCCCATCAATTTGAACAGAAGTTTAATTACCGCCGTCCCATGTATCCTATCCTAAGATACATGTGGGGGACAGATACCTATCGGGAGAGCATTAAGGTGAGAGAGTTTTTGATGAAACCTGTTGCTTTATATAAGCCCTAATGAGTTGTAATTCAGTACTAAAATGGTTTTCTTGTGGGCTGGGACTTACAGGATTTGGCTGACTATGCCTCTAAGAATTTAGAAGCCATGAATCCCCCACTTTTCCTCCGCTTTCTTAACCTGCTAATGAATGATGCCATCTTCCTTTTGGATGAAGCCATACAGGTAAAAAAAAAAAAAAAAAAAAAGATTTAACTTCTCCATACCATCAAATCATCAGCAGTACATACATTTTACCTTTTAATCATAATAGAGCAGTCCTTATGCCCCTAGTACCAGACTTGAACACCAAAAATTTGTGATTAGTAGTGTACCACCAAGCTTGTCATTATAGAGCTTTCTAGTTCATTCCATTAGAGACCAAGATCAAGGGTCATTGAAGCATCATGAGATGGACATTTTGGCAGAGTCAAAAATACCATATGGTGAAGCCAAACTAAGTTGTACTGGCAGGAGTAATTCATCAGGCCAGCACTACAGAAAGAAATCAGAGGAGCTTGCTTTTGGTCAGTGACTTTCAACCCTTTTAATCCCAACATGTCAGTAAAATATCTCACTAAGACAGTGATTTTTAACCCACTTTCCTAAAAGATTCTGATTTTTGCACCACTACTTGAAAGAAAATCTCTGATTTGGGTTATTTTTTCATATAAAGGCTCCAAGTTGTCAATACTTCTCATATTTCCACTGCCTTCTAAATTCTTAGCTATATGGTGAAACAAAGGTTTCACAAAGTATAAAATGCAGCTGGGTGCCTCTCAGCTCCTTCAGTGTATTATTTCCTTAACCTTCCCTGGTGGAACTGCTTACTTCTCCCATAAAAACTTGGCTGTCTGTAGAGCAAAACTTCCCTTACCTGTGATGGGTATAGGATGGACAAGGCACTGACCTAAAGGGAGATGAAGCAGGTAAATCCTGAGGGTAGCCTTTAGACAGTCATGAGCTCCTCCTTATGATCAGCAATCCCCTGAGTAGCTTGTGTTTAATTTGTGAGAAAGGTTTGATCTGATTTCTTCATAATCCTACGCTTTAGGATTTAAGATAGGTTTTCTTCAAAAGCGAGAATAGGTCCTGTTACAAACAGGCCCTTTTAAGCAAGAGGTGTGTGACACAAAGCATGAAGCAGATGGTATTTTCATGAGACTGTAAGTTTAACAAGTTGTTTGCTACAACAGGAAGGATGACGTGAGGTAGAGAGTTTTAAATAATTATGGTTCTTCCACGCATCTTGCATATGTGATAGAGCTTTGATTTTTTTGTAAGCAATTTGGCAGGGGGGATTTGTTTTCATCTTTCAGGAAGGATTCATTGTTTTTTCACTATAGTGTGGGGTTTTTTAGTTTTTTGTTTCTTGGCCTGGGTTTCATATATTAAACTATTCATCCTTCTTTGCATTTCACAATGCTATACTATTTCTAGGGGAATTACCTGTGAATCTACCCAAGCTGAAACAAATCTGTATGAAGCCACAATTTCTTTTTTTCCTGAAAGTTCTTTTGAGCTTCAGCCTTATGCTGAGAAATAAAGGCTCATGTCTTTTACATGGTCCCTCGTTTTCCCAGCTTAGTTGACTGGATTTTGAATAGGACCTCTTAAATGTCACGTCCCTTCAACTGCACCTTTCTTCTCTGATATATCCCATCTCTGGTTTCTGCAGTATTTGAGCAAGATAAAGATTCAGCAAATTGAGAAGGATCGAGGTGAATGGGATAGTCTGACTCCAGAAGCCCGCCGAGAAAAGGAGGCTGGCCTACAGATGTTTGGACAGCTGGCACGTTTCCATAACATCATGTCCAATGAAACAATCGGTACCCTTGCCTTTCTCACATCAGGTAAGGACATGAAGTACTGCTTCCCCCCAAAAAAGTAATGGCCAAGATCAGCTTCACTTGGGGGATCAGCCCAGCTGAAACTAAGAATTCAGACCCTGGTGACAGTATCCTCCACATCTGGAAGGGAAACGAATCACTTGAGAAGCTTCAAAAAGAATGATGATGCCCATTGTTGACATGGAAGTGAGGAAATGGTCACCCTCACACAGCTGCCAGAGAGCATAAGGTGGTAAAATCTTTCTTGAGGACAAGTTAGCCATATAAATATATGTGTGTCTGTACACACACATATATACATATATGTTTGTTAATCTGAGAAATACGCTTGAATCCTGGTTAAATATGGTGGATCTAACAGAAATTTATCTCTACTCCTTCTATA | GCCAGGCTTGATGATAAGTGCTTTTTTTTTTTTTTTAACATTATCCCATTGTCACCATTGGAAAAGTTTCACTCTATTATCCCTGTTTTATTTATTTTTTATTTTTTAATTATTCTTGTTTTACATATGAAGACATGACTGCCCAAAAGATCAGTTTGTCCATGTCATAACAAACTACCAAGTGGTAGAATCAGGTCTGTGTCACCTAAAGAAATCTACATATTCAACACCCTTATTATGTTGCATCATCAAATCAGACTCAAATTAGACTATTTGGGTCTTTATATTTCTCTGCCTTAAAATTACAGAATAGTGCATAAAGAGGCAGTGTATTGGTTGAGAGATTCTTTTATCTTAACCAGACTATCTAACTCTCCAACAGTCTAATGGTTCGATTAAAAATACCAGCAGGCGGACAGGCACAGTGGCTCATGCTTGTAATCCCAGCGTTTTGGGAGGCCAAAGTAGGCAGATCACTTGAGCTCCTGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCATTCTCTACAAAAATACAAAAATTACCCAGGCATGGTGGCAGGTGCCTGTAATCCCAGCTACTTAGGAGGCAGAGGCACGAGAATTGCTTGAATTCGGGAGGCAGAGGTGGCAGTGAGCTGAGATCGCACCACTCCAGCCTGGATGACAGAGCAAGAAATCCCTCTCAAAAAAAAAAAAAAAAAAAAAAAACCAGCAGGCAACATTCCCTCTCTATCTAACCCTGAGCCCCTGTGTTTGTTTAAACAGTACCCTGTCTCAATCAGTAAATAAGATATGTTAAGAAGTTGTTGAAGACCATTTTTTAAAGGGATATCTACCATCCAATGATAAATACAACTAACATTTAAAGAGGCATTTAACATTTTACTGGCCGCCTTTCCATATTTGGATTCTGGTTTTTTTTAATTCGCTCACCTATCAACCTTAGTTTCCTCATCTATAAAATGGGTCAAAGTGATGATTAAGTGAAATAATGCATGTAAATCTTTATAATACATAAGAAATTGTATAATAAATCATTGCAGTTATCTCGTTATGTGACCATACAACCAAAGTGTTGTAATGGAGTACAATTTCTGTTTTATTTCTGAGGAAGTGGAAGCTGAAGAAGATTAAGAGACTTAGATTAAGCAGAGCCAGAATGAAAACGTAGGTCTTTTGACTCCAAATCCTACACTCTTCCTTTATTATGACCCAGCCTGTGGAGCTCTAGTAATACCTTTGGTATTTCAAAAGCAGTATAAGCCTCAGATTTTTAGCTCCTGACCTGATTTTTCAGAGTAATCAAGAACCTGTTGGCTACACAGTTTGGGATATTGTCTGTGAAGAATGTGGGAATTGCTTAGTGTCCCGTCCTGCACATGGCTTTCACTGCCATAATGGCCAGCCCTGAGCCCTCATTTAAAGCCTGAGAAGTACTCATGTTTGGATATGGAAACATTTGTTTCCCTTAACTTTTATTTTACAGCTTGGTACTTGTCTCTTGCAGAGTAAGGTATCCTTTATCTCTGTCTCCCCCTTACTTCATCAGTAAGGAAATGAGCAAACACTTGGCGATAACTCTAGGCCTTTAGAAACTCCAGGGCAGATTTTGTTAGTAGCCTTAACACACTCAAAAGCAAATGACTACAAAGCAAATGGCTACACATAAGCATAAACTCTTCCTCTTATGGCACCGCCTTTGCTGATATTTCGCTCTTGCCTTACTCCAGGAGACCCCCATCAATTTGAACAGAAGTTTAATTACCGCCGTCCCATGTATCCTATCCTAAGATACATGTGGGGGACAGATACCTATCGGGAGAGCATTAAGGTGAGAGAGTTTTTGATGAAACCTGTTGCTTTATATAAGCCCTAATGAGTTGTAATTCAGTACTAAAATGGTTTTCTTGTGGGCTGGGACTTACAGGATTTGGCTGACTATGCCTCTAAGAATTTAGAAGCCATGAATCCCCCACTTTTCCTCCGCTTTCTTAACCTGCTAATGAATGATGCCATCTTCCTTTTGGATGAAGCCATACAGGTAAAAAAAAAAAAAAAAAAAAGATTTAACTTCTCCATACCATCAAATCATCAGCAGTACATACATTTTACCTTTTAATCATAATAGAGCAGTCCTTATGCCCCTAGTACCAGACTTGAACACCAAAAATTTGTGATTAGTAGTGTACCACCAAGCTTGTCATTATAGAGCTTTCTAGTTCATTCCATTAGAGACCAAGATCAAGGGTCATTGAAGCATCATGAGATGGACATTTTGGCAGAGTCAAAAATACCATATGGTGAAGCCAAACTAAGTTGTACTGGCAGGAGTAATTCATCAGGCCAGCACTACAGAAAGAAATCAGAGGAGCTTGCTTTTGGTCAGTGACTTTCAACCCTTTTAATCCCAACATGTCAGTAAAATATCTCACTAAGACAGTGATTTTTAACCCACTTTCCTAAAAGATTCTGATTTTTGCACCACTACTTGAAAGAAAATCTCTGATTTGGGTTATTTTTTCATATAAAGGCTCCAAGTTGTCAATACTTCTCATATTTCCACTGCCTTCTAAATTCTTAGCTATATGGTGAAACAAAGGTTTCACAAAGTATAAAATGCAGCTGGGTGCCTCTCAGCTCCTTCAGTGTATTATTTCCTTAACCTTCCCTGGTGGAACTGCTTACTTCTCCCATAAAAACTTGGCTGTCTGTAGAGCAAAACTTCCCTTACCTGTGATGGGTATAGGATGGACAAGGCACTGACCTAAAGGGAGATGAAGCAGGTAAATCCTGAGGGTAGCCTTTAGACAGTCATGAGCTCCTCCTTATGATCAGCAATCCCCTGAGTAGCTTGTGTTTAATTTGTGAGAAAGGTTTGATCTGATTTCTTCATAATCCTACGCTTTAGGATTTAAGATAGGTTTTCTTCAAAAGCGAGAATAGGTCCTGTTACAAACAGGCCCTTTTAAGCAAGAGGTGTGTGACACAAAGCATGAAGCAGATGGTATTTTCATGAGACTGTAAGTTTAACAAGTTGTTTGCTACAACAGGAAGGATGACGTGAGGTAGAGAGTTTTAAATAATTATGGTTCTTCCACGCATCTTGCATATGTGATAGAGCTTTGATTTTTTTGTAAGCAATTTGGCAGGGGGGATTTGTTTTCATCTTTCAGGAAGGATTCATTGTTTTTTCACTATAGTGTGGGGTTTTTTAGTTTTTTGTTTCTTGGCCTGGGTTTCATATATTAAACTATTCATCCTTCTTTGCATTTCACAATGCTATACTATTTCTAGGGGAATTACCTGTGAATCTACCCAAGCTGAAACAAATCTGTATGAAGCCACAATTTCTTTTTTTCCTGAAAGTTCTTTTGAGCTTCAGCCTTATGCTGAGAAATAAAGGCTCATGTCTTTTACATGGTCCCTCGTTTTCCCAGCTTAGTTGACTGGATTTTGAATAGGACCTCTTAAATGTCACGTCCCTTCAACTGCACCTTTCTTCTCTGATATATCCCATCTCTGGTTTCTGCAGTATTTGAGCAAGATAAAGATTCAGCAAATTGAGAAGGATCGAGGTGAATGGGATAGTCTGACTCCAGAAGCCCGCCGAGAAAAGGAGGCTGGCCTACAGATGTTTGGACAGCTGGCACGTTTCCATAACATCATGTCCAATGAAACAATCGGTACCCTTGCCTTTCTCACATCAGGTAAGGACATGAAGTACTGCTTCCCCCCAAAAAAGTAATGGCCAAGATCAGCTTCACTTGGGGGATCAGCCCAGCTGAAACTAAGAATTCAGACCCTGGTGACAGTATCCTCCACATCTGGAAGGGAAACGAATCACTTGAGAAGCTTCAAAAAGAATGATGATGCCCATTGTTGACATGGAAGTGAGGAAATGGTCACCCTCACACAGCTGCCAGAGAGCATAAGGTGGTAAAATCTTTCTTGAGGACAAGTTAGCCATATAAATATATGTGTGTCTGTACACACACATATATACATATATGTTTGTTAATCTGAGAAATACGCTTGAATCCTGGTTAAATATGGTGGATCTAACAGAAATTTATCTCTACTCCTTCTATAN | benign | 188,531 |
Variant chromosome 11, position 118436678, gene KMT2A (lysine methyltransferase 2A): benign or pathogenic? Disease(s)? | pathogenic; ['Wiedemann-Steiner_syndrome'] | CTCTGTCCTTAGCAGAGCCTTGGGGCTGCCGTTTAAGACCCTCCTGCTACTCCCACCCTTTTAGCATCTAGTAAACCACGCGCTGTAACAACGGAATCTTGTTCTGTGTATTGCGTTGTGCGAGTGTGCGCTTTGCAAACCATCTGGGCCCCATCCTGCGCGGTTGGAACGAAGATCGATTCGGGACGAGTTGGGGGAGTTGAGGCTTGCCTGTGTCTCCTCCCTTTCATTGCTCCTCTCCAGCCCCCATCCCATCGTCCGCTCTGCACAAATGTTTCGCCAGTGGAGGGACGTAGGTTTTCAGCACCAGGAGGCTGTGGACCTTCTCTGGAGGCGTGAAGTGCACCCTCCGGAGGGCCAGAGCTGAGTGCAACCTGCTCACAACGACCCTCTCCCTCCTTCCCAAATTCGCCGCCCCAGGCTGTAATATTACATGCAGTGCGCTGTACCGGTGCGGGAGTCCAGGAAGGCTGCATGACCTTCCAGCGAACTCCCCCTCGGCTTGGGGGATGGAGGCTGCCCCGGGGCCTGCAGGCTGTGTATCGATCCCCCAGCCTCAGCCAACGCAAGTTCTCCCGACACAAACCCCTCCCTACCCTCTCGGCTTTCCCAGCCTTGCAGGCGTCTAACGCTATGCTCGAGGCGCCCTCCCCTCTTTCCCGCAATAAAGTAAACCCGGTGGATATTCATTCCCCTCCCTAACTCGCCTCCTTCTTTCCCCCTCCCCCCTCAGCTTACTAACCCCGCGCACAGAGCTCGCCGCCGGCGGGCCCCTTCCACCCAGTGTATCATAATGCCCAACGCTCTCCTCCTCCCCCTCTCTTAATCAGAAACGTGCTCGCGAGCCCCCCTCCCTCTGCGTGCATACATTAGGGTCTGCTTTGCATGCAGCGGCAGGCAGAGACCGGAGGAAGAAGGGGCGGGGGCGCTTTTGCCCGCCTCTTCCCTCCAGGCCCCGTTAGCCACCCAGCTTCAGCTTCGTTGTAACACCGCGTCGTTAGCGGAGCACGCCGTGGCCTCAGTGCCCGGGCTGGAGAAACACAACCCAACTCCCTGCAGAAGGGCACGAAAGCCAGACGAGTGCACAGTAGAGCGAGGAGGTGGCAGGAGACCTGCCACTCGGTGTGTGCTTTTTGGAAAGAGCTCCAGCATGAAAATGGGAGGGGCTCCTTTTTTATTTTTTAAAGTGCGTTCATTGAGGGCCTTTCTGTTTTGCATATAGTAAACTGGGCAGCGCTTCTGTTTTGCATGTAGTACAATAAGGGCTCTTTTATTCTAGAAGCGTTCAATTCGGGCTAACCCATCTTGTATCCGTGCCCTGGGGCGGAGGAGAAGGCTCACTGCTCCCCGACCCAGCCGCCGCGTTATACTGGAAGCTGCTCTCCCGGGCTGTTCGATTCCCAGCGCGTCCCGGGAACGTGTGTAATCGGCCTCTCGGCGCTCAAGGCTGCAGGCGGCCCGGCTCCCTACGCCTCCATCCTCCGCGTAGTCCTCGCCCCCTCCCCCTCTCTCCGGAACCCGCGCTCTGCTCCGGGCTCCCGGGCTTCCTTCCCCCCTCCTTTTCCCGAGCAATGCCTCTCCCGGAGGGCGGGGCATGCAGTTATCCAGGTTGCGGGGCCGGCGGGCGGGCAGGAGGCGGCGGCCCGGGCCTCGGGATGGAGTTGCAGCGCCCAGGCGTCAGAGGCGGAGGCCCGAGGCCGCTATACAGATTGCGGGGCTGGCGGGCGCGGCCCGGCGCTCTGCATAGCGGCCGGCAGGGTGCAGGCGGCCGGGCGGCGCAGAGCTGGTTAGGCAGGTTCCGGGGCCCCGTGCCCCCCCCTCCGCCTCCCCGCCCCCCTGTGTTGTCGCCTCTCCCTCTCGCTGCTTCACTTCACGGGGCGAACATGGCGCACAGCTGTCGGTGGCGCTTCCCCGCCCGACCCGGGACCACCGGGGGCGGCGGCGGCGGGGGGCGCCGGGGCCTAGGGGGCGCCCCGCGGCAACGCGTCCCGGCCCTGCTGCTTCCCCCCGGGCCCCCGGTCGGCGGTGGCGGCCCCGGGGCGCCCCCCTCCCCCCCGGCTGTGGCGGCCGCGGCGGCGGCGGCGGGAAGCAGCGGGGCTGGGGTTCCAGGGGGAGCGGCCGCCGCCTCAGCAGCCTCCTCGTCGTCCGCCTCGTCTTCGTCTTCGTCATCGTCCTCAGCCTCTTCAGGGCCGGCCCTGCTCCGGGTGGGCCCGGGCTTCGACGCGGCGCTGCAGGTCTCGGCCGCCATCGGCACCAACCTGCGCCGGTTCCGGGCCGTGTTTGGGGAGAGCGGCGGGGGAGGCGGCAGCGGAGAGGTAAGGGGGCGAGGAACCCCCAGGTCCGGGGTCTCGACCCTCTGCGGAGCCCCCTCCCCTCCCCCATCCGGGATTGAGGAGCATCCCAATTCTGGGACCATCTCGGGGTCCCTGACCCGGGGCGAATGGCTCTCCCATCTTGGGACCCCCATGCAGGGCTGCAGACCCCCAGGCGCCCCCACCCCGGGGTTTGGGCCCATCTGGCTGAGGGCGTTTGCCCCCCGCTCTCCTCCCCCTGACCCTTCCCCAAATCCCTTGGCACAGACCCCCTCGCCGGGGTTTCCCATCCCGGGACTGAACCCCTCCTCCCTTTCACAGATTACCTCATCCGAGCAAGATTCCTCCCTCCCTCCCTCCTAGAGACCTGATCCCGCCACATCCCCGCCTCCCTCTCTGGGCAGATGTGTTACTCCTAGGGCAGTTTTCCTCTCGGGCGTCTCTCGGGTGATGGCCTCATCCAGGGCCACGTTCTCCTGGCCCTTGGGGATCGTGTCCCTTCCAGCACCTTGCTTTCGAAAACCCGATGAACCCTCGCGCCATCCCCGGGCCAGGTCCCTATACTGCCAGCCACTCCCCCTTCCTTCACCTCCACCCTCTACCCCCACCCCAAGCAGACCGATCCTCCCCCATCCCGCCCTACCCCACCGGGGAAAATCTCTCCTCTGCACCTTGCCTGGTCTCACCTCCTTTCCCTCTGAAGATAACGGTGATTCCTCATACAGCAGTCTCTTCCCCCCCCCGCCCCGTCTTACAGGGCTACAGTTTCTAGCCTATTGGTAGCCGGGAATTACTCTACCTTCACTCCACCCTTTCCCTCCTTTAGAATGAAGGATTAGTGGCATCTTGGAGGGGAAAATAGTCCACTGTCCCCTAGGCTTAGAGAAGAGCAGCTTTCCACCACTCCCCTTGGAGAGGAGGCAGGCTTTCCCTCCAGCTCTGGGGAAGGGGGCCCCTGTGAGGGGAGGTGTTTGTTGGGGGACTGAGGCAGCATCCTCCCAGGGGAAGCAGCTGCTCTCCTACCCCACCCACTGCGCCTGAGAGCACGCAGTCTCCAACCCGAGCTCCCTCCCGCCCTTCTCTTCTCGTCATTTCATTATTGATCCACCTTTTCCTAGGCCAATCCTGGGGCTTGGAAGGGGTGGGGGAAGCCAGGTTGGGGTGAGGAGAGTAGATAAGGGACAGTTATACTTTAGTGTGGTGGCGGTGGTTGCTTTGGGATGGGAGAAAAAGGATTATCAAGCAAAGTTATTCCTTAGAAAGGACTTGGGGTTGTCTCTGATTCTTGTAAGGGGACCCAAGGTGGATGAAGGGTCAGAGCGTTGCCCCTTCCCCATTAGTACTGGGGCAAGAACGGAGTTGCTTCTATAAACATTATTCGGCCCCCTTCAGCAAAAAGGAAAGTTGCCCAAGGAAGGGAAGTTGAGTTCAGGTTCAGCCAGTGGCGTTGCGCATTTGTTTTCCATTGGATGCAGAAGGGGGGAGTTCGAATTGTAGAGGGGGGAGGATGGCATGGGGGATGCTAGGAGGAGGAAGAGCAGCTGCTAGGGGCTGAAGCGAAGGGGGGTAGGGGGTTGCTGCTCTGGAGTGCTCTTGATTGAAACAGAAAGGGAAAGATAACAACCAGCCGTTTCCTGCGTGCTCTGCCGTTGGTGCACACAAAATATCCTGGGCAAACCCCTTGTCCCCTATTGTGCCCCGCACCCCTTTAGATTTACGGAAAGATCCTGGGAAGAAGGGGAGGGAGGAGATCCCAAGGACCCTGGCCCCTCCTTTCAAGGAGC | CTCTGTCCTTAGCAGAGCCTTGGGGCTGCCGTTTAAGACCCTCCTGCTACTCCCACCCTTTTAGCATCTAGTAAACCACGCGCTGTAACAACGGAATCTTGTTCTGTGTATTGCGTTGTGCGAGTGTGCGCTTTGCAAACCATCTGGGCCCCATCCTGCGCGGTTGGAACGAAGATCGATTCGGGACGAGTTGGGGGAGTTGAGGCTTGCCTGTGTCTCCTCCCTTTCATTGCTCCTCTCCAGCCCCCATCCCATCGTCCGCTCTGCACAAATGTTTCGCCAGTGGAGGGACGTAGGTTTTCAGCACCAGGAGGCTGTGGACCTTCTCTGGAGGCGTGAAGTGCACCCTCCGGAGGGCCAGAGCTGAGTGCAACCTGCTCACAACGACCCTCTCCCTCCTTCCCAAATTCGCCGCCCCAGGCTGTAATATTACATGCAGTGCGCTGTACCGGTGCGGGAGTCCAGGAAGGCTGCATGACCTTCCAGCGAACTCCCCCTCGGCTTGGGGGATGGAGGCTGCCCCGGGGCCTGCAGGCTGTGTATCGATCCCCCAGCCTCAGCCAACGCAAGTTCTCCCGACACAAACCCCTCCCTACCCTCTCGGCTTTCCCAGCCTTGCAGGCGTCTAACGCTATGCTCGAGGCGCCCTCCCCTCTTTCCCGCAATAAAGTAAACCCGGTGGATATTCATTCCCCTCCCTAACTCGCCTCCTTCTTTCCCCCTCCCCCCTCAGCTTACTAACCCCGCGCACAGAGCTCGCCGCCGGCGGGCCCCTTCCACCCAGTGTATCATAATGCCCAACGCTCTCCTCCTCCCCCTCTCTTAATCAGAAACGTGCTCGCGAGCCCCCCTCCCTCTGCGTGCATACATTAGGGTCTGCTTTGCATGCAGCGGCAGGCAGAGACCGGAGGAAGAAGGGGCGGGGGCGCTTTTGCCCGCCTCTTCCCTCCAGGCCCCGTTAGCCACCCAGCTTCAGCTTCGTTGTAACACCGCGTCGTTAGCGGAGCACGCCGTGGCCTCAGTGCCCGGGCTGGAGAAACACAACCCAACTCCCTGCAGAAGGGCACGAAAGCCAGACGAGTGCACAGTAGAGCGAGGAGGTGGCAGGAGACCTGCCACTCGGTGTGTGCTTTTTGGAAAGAGCTCCAGCATGAAAATGGGAGGGGCTCCTTTTTTATTTTTTAAAGTGCGTTCATTGAGGGCCTTTCTGTTTTGCATATAGTAAACTGGGCAGCGCTTCTGTTTTGCATGTAGTACAATAAGGGCTCTTTTATTCTAGAAGCGTTCAATTCGGGCTAACCCATCTTGTATCCGTGCCCTGGGGCGGAGGAGAAGGCTCACTGCTCCCCGACCCAGCCGCCGCGTTATACTGGAAGCTGCTCTCCCGGGCTGTTCGATTCCCAGCGCGTCCCGGGAACGTGTGTAATCGGCCTCTCGGCGCTCAAGGCTGCAGGCGGCCCGGCTCCCTACGCCTCCATCCTCCGCGTAGTCCTCGCCCCCTCCCCCTCTCTCCGGAACCCGCGCTCTGCTCCGGGCTCCCGGGCTTCCTTCCCCCCTCCTTTTCCCGAGCAATGCCTCTCCCGGAGGGCGGGGCATGCAGTTATCCAGGTTGCGGGGCCGGCGGGCGGGCAGGAGGCGGCGGCCCGGGCCTCGGGATGGAGTTGCAGCGCCCAGGCGTCAGAGGCGGAGGCCCGAGGCCGCTATACAGATTGCGGGGCTGGCGGGCGCGGCCCGGCGCTCTGCATAGCGGCCGGCAGGGTGCAGGCGGCCGGGCGGCGCAGAGCTGGTTAGGCAGGTTCCGGGGCCCCGTGCCCCCCCCTCCGCCTCCCCGCCCCCCTGTGTTGTCGCCTCTCCCTCTCGCTGCTTCACTTCACGGGGCGAACATGGCGCACAGCTGTCGGTGGCGCTTCCCCGCCCGACCCGGGACCACCGGGGGCGGCGGCGGCGGGGGGCGCCGGGGCCTAGGGGGCGCCCCGCGGCAACGCGTCCCGGCCCTGCTGCTTCCCCCCGGGCCCCCGGTCGGCGGTGGCGGCCCCGGGGCGCCCCCCTCCCCCCCCGGCTGTGGCGGCCGCGGCGGCGGCGGCGGGAAGCAGCGGGGCTGGGGTTCCAGGGGGAGCGGCCGCCGCCTCAGCAGCCTCCTCGTCGTCCGCCTCGTCTTCGTCTTCGTCATCGTCCTCAGCCTCTTCAGGGCCGGCCCTGCTCCGGGTGGGCCCGGGCTTCGACGCGGCGCTGCAGGTCTCGGCCGCCATCGGCACCAACCTGCGCCGGTTCCGGGCCGTGTTTGGGGAGAGCGGCGGGGGAGGCGGCAGCGGAGAGGTAAGGGGGCGAGGAACCCCCAGGTCCGGGGTCTCGACCCTCTGCGGAGCCCCCTCCCCTCCCCCATCCGGGATTGAGGAGCATCCCAATTCTGGGACCATCTCGGGGTCCCTGACCCGGGGCGAATGGCTCTCCCATCTTGGGACCCCCATGCAGGGCTGCAGACCCCCAGGCGCCCCCACCCCGGGGTTTGGGCCCATCTGGCTGAGGGCGTTTGCCCCCCGCTCTCCTCCCCCTGACCCTTCCCCAAATCCCTTGGCACAGACCCCCTCGCCGGGGTTTCCCATCCCGGGACTGAACCCCTCCTCCCTTTCACAGATTACCTCATCCGAGCAAGATTCCTCCCTCCCTCCCTCCTAGAGACCTGATCCCGCCACATCCCCGCCTCCCTCTCTGGGCAGATGTGTTACTCCTAGGGCAGTTTTCCTCTCGGGCGTCTCTCGGGTGATGGCCTCATCCAGGGCCACGTTCTCCTGGCCCTTGGGGATCGTGTCCCTTCCAGCACCTTGCTTTCGAAAACCCGATGAACCCTCGCGCCATCCCCGGGCCAGGTCCCTATACTGCCAGCCACTCCCCCTTCCTTCACCTCCACCCTCTACCCCCACCCCAAGCAGACCGATCCTCCCCCATCCCGCCCTACCCCACCGGGGAAAATCTCTCCTCTGCACCTTGCCTGGTCTCACCTCCTTTCCCTCTGAAGATAACGGTGATTCCTCATACAGCAGTCTCTTCCCCCCCCCGCCCCGTCTTACAGGGCTACAGTTTCTAGCCTATTGGTAGCCGGGAATTACTCTACCTTCACTCCACCCTTTCCCTCCTTTAGAATGAAGGATTAGTGGCATCTTGGAGGGGAAAATAGTCCACTGTCCCCTAGGCTTAGAGAAGAGCAGCTTTCCACCACTCCCCTTGGAGAGGAGGCAGGCTTTCCCTCCAGCTCTGGGGAAGGGGGCCCCTGTGAGGGGAGGTGTTTGTTGGGGGACTGAGGCAGCATCCTCCCAGGGGAAGCAGCTGCTCTCCTACCCCACCCACTGCGCCTGAGAGCACGCAGTCTCCAACCCGAGCTCCCTCCCGCCCTTCTCTTCTCGTCATTTCATTATTGATCCACCTTTTCCTAGGCCAATCCTGGGGCTTGGAAGGGGTGGGGGAAGCCAGGTTGGGGTGAGGAGAGTAGATAAGGGACAGTTATACTTTAGTGTGGTGGCGGTGGTTGCTTTGGGATGGGAGAAAAAGGATTATCAAGCAAAGTTATTCCTTAGAAAGGACTTGGGGTTGTCTCTGATTCTTGTAAGGGGACCCAAGGTGGATGAAGGGTCAGAGCGTTGCCCCTTCCCCATTAGTACTGGGGCAAGAACGGAGTTGCTTCTATAAACATTATTCGGCCCCCTTCAGCAAAAAGGAAAGTTGCCCAAGGAAGGGAAGTTGAGTTCAGGTTCAGCCAGTGGCGTTGCGCATTTGTTTTCCATTGGATGCAGAAGGGGGGAGTTCGAATTGTAGAGGGGGGAGGATGGCATGGGGGATGCTAGGAGGAGGAAGAGCAGCTGCTAGGGGCTGAAGCGAAGGGGGGTAGGGGGTTGCTGCTCTGGAGTGCTCTTGATTGAAACAGAAAGGGAAAGATAACAACCAGCCGTTTCCTGCGTGCTCTGCCGTTGGTGCACACAAAATATCCTGGGCAAACCCCTTGTCCCCTATTGTGCCCCGCACCCCTTTAGATTTACGGAAAGATCCTGGGAAGAAGGGGAGGGAGGAGATCCCAAGGACCCTGGCCCCTCCTTTCAAGGAG | pathogenic | 188,536 |
Is the genetic mutation found on chromosome 11 at position 118436698, within the gene KMT2A (lysine methyltransferase 2A), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TGGGGCTGCCGTTTAAGACCCTCCTGCTACTCCCACCCTTTTAGCATCTAGTAAACCACGCGCTGTAACAACGGAATCTTGTTCTGTGTATTGCGTTGTGCGAGTGTGCGCTTTGCAAACCATCTGGGCCCCATCCTGCGCGGTTGGAACGAAGATCGATTCGGGACGAGTTGGGGGAGTTGAGGCTTGCCTGTGTCTCCTCCCTTTCATTGCTCCTCTCCAGCCCCCATCCCATCGTCCGCTCTGCACAAATGTTTCGCCAGTGGAGGGACGTAGGTTTTCAGCACCAGGAGGCTGTGGACCTTCTCTGGAGGCGTGAAGTGCACCCTCCGGAGGGCCAGAGCTGAGTGCAACCTGCTCACAACGACCCTCTCCCTCCTTCCCAAATTCGCCGCCCCAGGCTGTAATATTACATGCAGTGCGCTGTACCGGTGCGGGAGTCCAGGAAGGCTGCATGACCTTCCAGCGAACTCCCCCTCGGCTTGGGGGATGGAGGCTGCCCCGGGGCCTGCAGGCTGTGTATCGATCCCCCAGCCTCAGCCAACGCAAGTTCTCCCGACACAAACCCCTCCCTACCCTCTCGGCTTTCCCAGCCTTGCAGGCGTCTAACGCTATGCTCGAGGCGCCCTCCCCTCTTTCCCGCAATAAAGTAAACCCGGTGGATATTCATTCCCCTCCCTAACTCGCCTCCTTCTTTCCCCCTCCCCCCTCAGCTTACTAACCCCGCGCACAGAGCTCGCCGCCGGCGGGCCCCTTCCACCCAGTGTATCATAATGCCCAACGCTCTCCTCCTCCCCCTCTCTTAATCAGAAACGTGCTCGCGAGCCCCCCTCCCTCTGCGTGCATACATTAGGGTCTGCTTTGCATGCAGCGGCAGGCAGAGACCGGAGGAAGAAGGGGCGGGGGCGCTTTTGCCCGCCTCTTCCCTCCAGGCCCCGTTAGCCACCCAGCTTCAGCTTCGTTGTAACACCGCGTCGTTAGCGGAGCACGCCGTGGCCTCAGTGCCCGGGCTGGAGAAACACAACCCAACTCCCTGCAGAAGGGCACGAAAGCCAGACGAGTGCACAGTAGAGCGAGGAGGTGGCAGGAGACCTGCCACTCGGTGTGTGCTTTTTGGAAAGAGCTCCAGCATGAAAATGGGAGGGGCTCCTTTTTTATTTTTTAAAGTGCGTTCATTGAGGGCCTTTCTGTTTTGCATATAGTAAACTGGGCAGCGCTTCTGTTTTGCATGTAGTACAATAAGGGCTCTTTTATTCTAGAAGCGTTCAATTCGGGCTAACCCATCTTGTATCCGTGCCCTGGGGCGGAGGAGAAGGCTCACTGCTCCCCGACCCAGCCGCCGCGTTATACTGGAAGCTGCTCTCCCGGGCTGTTCGATTCCCAGCGCGTCCCGGGAACGTGTGTAATCGGCCTCTCGGCGCTCAAGGCTGCAGGCGGCCCGGCTCCCTACGCCTCCATCCTCCGCGTAGTCCTCGCCCCCTCCCCCTCTCTCCGGAACCCGCGCTCTGCTCCGGGCTCCCGGGCTTCCTTCCCCCCTCCTTTTCCCGAGCAATGCCTCTCCCGGAGGGCGGGGCATGCAGTTATCCAGGTTGCGGGGCCGGCGGGCGGGCAGGAGGCGGCGGCCCGGGCCTCGGGATGGAGTTGCAGCGCCCAGGCGTCAGAGGCGGAGGCCCGAGGCCGCTATACAGATTGCGGGGCTGGCGGGCGCGGCCCGGCGCTCTGCATAGCGGCCGGCAGGGTGCAGGCGGCCGGGCGGCGCAGAGCTGGTTAGGCAGGTTCCGGGGCCCCGTGCCCCCCCCTCCGCCTCCCCGCCCCCCTGTGTTGTCGCCTCTCCCTCTCGCTGCTTCACTTCACGGGGCGAACATGGCGCACAGCTGTCGGTGGCGCTTCCCCGCCCGACCCGGGACCACCGGGGGCGGCGGCGGCGGGGGGCGCCGGGGCCTAGGGGGCGCCCCGCGGCAACGCGTCCCGGCCCTGCTGCTTCCCCCCGGGCCCCCGGTCGGCGGTGGCGGCCCCGGGGCGCCCCCCTCCCCCCCGGCTGTGGCGGCCGCGGCGGCGGCGGCGGGAAGCAGCGGGGCTGGGGTTCCAGGGGGAGCGGCCGCCGCCTCAGCAGCCTCCTCGTCGTCCGCCTCGTCTTCGTCTTCGTCATCGTCCTCAGCCTCTTCAGGGCCGGCCCTGCTCCGGGTGGGCCCGGGCTTCGACGCGGCGCTGCAGGTCTCGGCCGCCATCGGCACCAACCTGCGCCGGTTCCGGGCCGTGTTTGGGGAGAGCGGCGGGGGAGGCGGCAGCGGAGAGGTAAGGGGGCGAGGAACCCCCAGGTCCGGGGTCTCGACCCTCTGCGGAGCCCCCTCCCCTCCCCCATCCGGGATTGAGGAGCATCCCAATTCTGGGACCATCTCGGGGTCCCTGACCCGGGGCGAATGGCTCTCCCATCTTGGGACCCCCATGCAGGGCTGCAGACCCCCAGGCGCCCCCACCCCGGGGTTTGGGCCCATCTGGCTGAGGGCGTTTGCCCCCCGCTCTCCTCCCCCTGACCCTTCCCCAAATCCCTTGGCACAGACCCCCTCGCCGGGGTTTCCCATCCCGGGACTGAACCCCTCCTCCCTTTCACAGATTACCTCATCCGAGCAAGATTCCTCCCTCCCTCCCTCCTAGAGACCTGATCCCGCCACATCCCCGCCTCCCTCTCTGGGCAGATGTGTTACTCCTAGGGCAGTTTTCCTCTCGGGCGTCTCTCGGGTGATGGCCTCATCCAGGGCCACGTTCTCCTGGCCCTTGGGGATCGTGTCCCTTCCAGCACCTTGCTTTCGAAAACCCGATGAACCCTCGCGCCATCCCCGGGCCAGGTCCCTATACTGCCAGCCACTCCCCCTTCCTTCACCTCCACCCTCTACCCCCACCCCAAGCAGACCGATCCTCCCCCATCCCGCCCTACCCCACCGGGGAAAATCTCTCCTCTGCACCTTGCCTGGTCTCACCTCCTTTCCCTCTGAAGATAACGGTGATTCCTCATACAGCAGTCTCTTCCCCCCCCCGCCCCGTCTTACAGGGCTACAGTTTCTAGCCTATTGGTAGCCGGGAATTACTCTACCTTCACTCCACCCTTTCCCTCCTTTAGAATGAAGGATTAGTGGCATCTTGGAGGGGAAAATAGTCCACTGTCCCCTAGGCTTAGAGAAGAGCAGCTTTCCACCACTCCCCTTGGAGAGGAGGCAGGCTTTCCCTCCAGCTCTGGGGAAGGGGGCCCCTGTGAGGGGAGGTGTTTGTTGGGGGACTGAGGCAGCATCCTCCCAGGGGAAGCAGCTGCTCTCCTACCCCACCCACTGCGCCTGAGAGCACGCAGTCTCCAACCCGAGCTCCCTCCCGCCCTTCTCTTCTCGTCATTTCATTATTGATCCACCTTTTCCTAGGCCAATCCTGGGGCTTGGAAGGGGTGGGGGAAGCCAGGTTGGGGTGAGGAGAGTAGATAAGGGACAGTTATACTTTAGTGTGGTGGCGGTGGTTGCTTTGGGATGGGAGAAAAAGGATTATCAAGCAAAGTTATTCCTTAGAAAGGACTTGGGGTTGTCTCTGATTCTTGTAAGGGGACCCAAGGTGGATGAAGGGTCAGAGCGTTGCCCCTTCCCCATTAGTACTGGGGCAAGAACGGAGTTGCTTCTATAAACATTATTCGGCCCCCTTCAGCAAAAAGGAAAGTTGCCCAAGGAAGGGAAGTTGAGTTCAGGTTCAGCCAGTGGCGTTGCGCATTTGTTTTCCATTGGATGCAGAAGGGGGGAGTTCGAATTGTAGAGGGGGGAGGATGGCATGGGGGATGCTAGGAGGAGGAAGAGCAGCTGCTAGGGGCTGAAGCGAAGGGGGGTAGGGGGTTGCTGCTCTGGAGTGCTCTTGATTGAAACAGAAAGGGAAAGATAACAACCAGCCGTTTCCTGCGTGCTCTGCCGTTGGTGCACACAAAATATCCTGGGCAAACCCCTTGTCCCCTATTGTGCCCCGCACCCCTTTAGATTTACGGAAAGATCCTGGGAAGAAGGGGAGGGAGGAGATCCCAAGGACCCTGGCCCCTCCTTTCAAGGAGCTGGCATTTTTTAGTTGTTAG | TGGGGCTGCCGTTTAAGACCCTCCTGCTACTCCCACCCTTTTAGCATCTAGTAAACCACGCGCTGTAACAACGGAATCTTGTTCTGTGTATTGCGTTGTGCGAGTGTGCGCTTTGCAAACCATCTGGGCCCCATCCTGCGCGGTTGGAACGAAGATCGATTCGGGACGAGTTGGGGGAGTTGAGGCTTGCCTGTGTCTCCTCCCTTTCATTGCTCCTCTCCAGCCCCCATCCCATCGTCCGCTCTGCACAAATGTTTCGCCAGTGGAGGGACGTAGGTTTTCAGCACCAGGAGGCTGTGGACCTTCTCTGGAGGCGTGAAGTGCACCCTCCGGAGGGCCAGAGCTGAGTGCAACCTGCTCACAACGACCCTCTCCCTCCTTCCCAAATTCGCCGCCCCAGGCTGTAATATTACATGCAGTGCGCTGTACCGGTGCGGGAGTCCAGGAAGGCTGCATGACCTTCCAGCGAACTCCCCCTCGGCTTGGGGGATGGAGGCTGCCCCGGGGCCTGCAGGCTGTGTATCGATCCCCCAGCCTCAGCCAACGCAAGTTCTCCCGACACAAACCCCTCCCTACCCTCTCGGCTTTCCCAGCCTTGCAGGCGTCTAACGCTATGCTCGAGGCGCCCTCCCCTCTTTCCCGCAATAAAGTAAACCCGGTGGATATTCATTCCCCTCCCTAACTCGCCTCCTTCTTTCCCCCTCCCCCCTCAGCTTACTAACCCCGCGCACAGAGCTCGCCGCCGGCGGGCCCCTTCCACCCAGTGTATCATAATGCCCAACGCTCTCCTCCTCCCCCTCTCTTAATCAGAAACGTGCTCGCGAGCCCCCCTCCCTCTGCGTGCATACATTAGGGTCTGCTTTGCATGCAGCGGCAGGCAGAGACCGGAGGAAGAAGGGGCGGGGGCGCTTTTGCCCGCCTCTTCCCTCCAGGCCCCGTTAGCCACCCAGCTTCAGCTTCGTTGTAACACCGCGTCGTTAGCGGAGCACGCCGTGGCCTCAGTGCCCGGGCTGGAGAAACACAACCCAACTCCCTGCAGAAGGGCACGAAAGCCAGACGAGTGCACAGTAGAGCGAGGAGGTGGCAGGAGACCTGCCACTCGGTGTGTGCTTTTTGGAAAGAGCTCCAGCATGAAAATGGGAGGGGCTCCTTTTTTATTTTTTAAAGTGCGTTCATTGAGGGCCTTTCTGTTTTGCATATAGTAAACTGGGCAGCGCTTCTGTTTTGCATGTAGTACAATAAGGGCTCTTTTATTCTAGAAGCGTTCAATTCGGGCTAACCCATCTTGTATCCGTGCCCTGGGGCGGAGGAGAAGGCTCACTGCTCCCCGACCCAGCCGCCGCGTTATACTGGAAGCTGCTCTCCCGGGCTGTTCGATTCCCAGCGCGTCCCGGGAACGTGTGTAATCGGCCTCTCGGCGCTCAAGGCTGCAGGCGGCCCGGCTCCCTACGCCTCCATCCTCCGCGTAGTCCTCGCCCCCTCCCCCTCTCTCCGGAACCCGCGCTCTGCTCCGGGCTCCCGGGCTTCCTTCCCCCCTCCTTTTCCCGAGCAATGCCTCTCCCGGAGGGCGGGGCATGCAGTTATCCAGGTTGCGGGGCCGGCGGGCGGGCAGGAGGCGGCGGCCCGGGCCTCGGGATGGAGTTGCAGCGCCCAGGCGTCAGAGGCGGAGGCCCGAGGCCGCTATACAGATTGCGGGGCTGGCGGGCGCGGCCCGGCGCTCTGCATAGCGGCCGGCAGGGTGCAGGCGGCCGGGCGGCGCAGAGCTGGTTAGGCAGGTTCCGGGGCCCCGTGCCCCCCCCTCCGCCTCCCCGCCCCCCTGTGTTGTCGCCTCTCCCTCTCGCTGCTTCACTTCACGGGGCGAACATGGCGCACAGCTGTCGGTGGCGCTTCCCCGCCCGACCCGGGACCACCGGGGGCGGCGGCGGCGGGGGGCGCCGGGGCCTAGGGGGCGCCCCGCGGCAACGCGTCCCGGCCCTGCTGCTTCCCCCCGGGCCCCCGGTCGGCGGTGGCGGCCCCGGGGCGCCCCCCTCCCCCCCGGCTGTGGCGGCCGCGGCGGCGGCGGGAAGCAGCGGGGCTGGGGTTCCAGGGGGAGCGGCCGCCGCCTCAGCAGCCTCCTCGTCGTCCGCCTCGTCTTCGTCTTCGTCATCGTCCTCAGCCTCTTCAGGGCCGGCCCTGCTCCGGGTGGGCCCGGGCTTCGACGCGGCGCTGCAGGTCTCGGCCGCCATCGGCACCAACCTGCGCCGGTTCCGGGCCGTGTTTGGGGAGAGCGGCGGGGGAGGCGGCAGCGGAGAGGTAAGGGGGCGAGGAACCCCCAGGTCCGGGGTCTCGACCCTCTGCGGAGCCCCCTCCCCTCCCCCATCCGGGATTGAGGAGCATCCCAATTCTGGGACCATCTCGGGGTCCCTGACCCGGGGCGAATGGCTCTCCCATCTTGGGACCCCCATGCAGGGCTGCAGACCCCCAGGCGCCCCCACCCCGGGGTTTGGGCCCATCTGGCTGAGGGCGTTTGCCCCCCGCTCTCCTCCCCCTGACCCTTCCCCAAATCCCTTGGCACAGACCCCCTCGCCGGGGTTTCCCATCCCGGGACTGAACCCCTCCTCCCTTTCACAGATTACCTCATCCGAGCAAGATTCCTCCCTCCCTCCCTCCTAGAGACCTGATCCCGCCACATCCCCGCCTCCCTCTCTGGGCAGATGTGTTACTCCTAGGGCAGTTTTCCTCTCGGGCGTCTCTCGGGTGATGGCCTCATCCAGGGCCACGTTCTCCTGGCCCTTGGGGATCGTGTCCCTTCCAGCACCTTGCTTTCGAAAACCCGATGAACCCTCGCGCCATCCCCGGGCCAGGTCCCTATACTGCCAGCCACTCCCCCTTCCTTCACCTCCACCCTCTACCCCCACCCCAAGCAGACCGATCCTCCCCCATCCCGCCCTACCCCACCGGGGAAAATCTCTCCTCTGCACCTTGCCTGGTCTCACCTCCTTTCCCTCTGAAGATAACGGTGATTCCTCATACAGCAGTCTCTTCCCCCCCCCGCCCCGTCTTACAGGGCTACAGTTTCTAGCCTATTGGTAGCCGGGAATTACTCTACCTTCACTCCACCCTTTCCCTCCTTTAGAATGAAGGATTAGTGGCATCTTGGAGGGGAAAATAGTCCACTGTCCCCTAGGCTTAGAGAAGAGCAGCTTTCCACCACTCCCCTTGGAGAGGAGGCAGGCTTTCCCTCCAGCTCTGGGGAAGGGGGCCCCTGTGAGGGGAGGTGTTTGTTGGGGGACTGAGGCAGCATCCTCCCAGGGGAAGCAGCTGCTCTCCTACCCCACCCACTGCGCCTGAGAGCACGCAGTCTCCAACCCGAGCTCCCTCCCGCCCTTCTCTTCTCGTCATTTCATTATTGATCCACCTTTTCCTAGGCCAATCCTGGGGCTTGGAAGGGGTGGGGGAAGCCAGGTTGGGGTGAGGAGAGTAGATAAGGGACAGTTATACTTTAGTGTGGTGGCGGTGGTTGCTTTGGGATGGGAGAAAAAGGATTATCAAGCAAAGTTATTCCTTAGAAAGGACTTGGGGTTGTCTCTGATTCTTGTAAGGGGACCCAAGGTGGATGAAGGGTCAGAGCGTTGCCCCTTCCCCATTAGTACTGGGGCAAGAACGGAGTTGCTTCTATAAACATTATTCGGCCCCCTTCAGCAAAAAGGAAAGTTGCCCAAGGAAGGGAAGTTGAGTTCAGGTTCAGCCAGTGGCGTTGCGCATTTGTTTTCCATTGGATGCAGAAGGGGGGAGTTCGAATTGTAGAGGGGGGAGGATGGCATGGGGGATGCTAGGAGGAGGAAGAGCAGCTGCTAGGGGCTGAAGCGAAGGGGGGTAGGGGGTTGCTGCTCTGGAGTGCTCTTGATTGAAACAGAAAGGGAAAGATAACAACCAGCCGTTTCCTGCGTGCTCTGCCGTTGGTGCACACAAAATATCCTGGGCAAACCCCTTGTCCCCTATTGTGCCCCGCACCCCTTTAGATTTACGGAAAGATCCTGGGAAGAAGGGGAGGGAGGAGATCCCAAGGACCCTGGCCCCTCCTTTCAAGGAGCTGGCATTTTTTAGTTGTTAGNNN | benign | 188,537 |
Does the genetic variant at chromosome 11, position 118472295, impacting gene KMT2A (lysine methyltransferase 2A), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Intellectual_disability'] | ACAATGGTAAGGAATCTTTTGATGTATTTCCGGGCAGGAGTTGTTTTGTTTGTTTGTTGTTTTTGTTTTTGTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTCTGGGCAGGAGTTTTATTTTGTTAATTCACAACTTTTTCATGGTAGTTTCCTCTTAAGTTTTTTTTCATGACTACCAGTCTACCTTGAATGTTGTCTTGTTTTCTAAGAAACCATCTCGATATGCTTCATTATTTGAGAAATGAGACATGGTTTCTCTGCTGTCTCCTAGTTTATTACCTTTGTTGTAATTAGGATATGTTGAGAAAGGAGCTGTGAATCCTTAATCTATTAAAGGAAGTCTCATAAATTAATTGATGAGGAATGCATTTATATTTAGAAAGCTCAACAATAAAACCTTTGTTGACTTCTGTTCTGTTAGCAAGCAGTTCCATTGTAAAAATGTTCATCTCTTTTGGTGCCTATTAAGGGAAGTTTTAGTCTCAGAAGAATGTTATCAAAAGGGAAAAGAAGATTTGATAAAATAGCCTAGTCTTACTACTTTTTAAAATACAGGTTTATACAAGGTGTTTTAGAAACAGTCTTGTTTTCTTGAATGGCTTGAAAAGCAGCAAACTGAGCTTATTTATAAATTGGCAAATTCCTTTTATTTAGAATAGAACTTTGATTTAATAAGTTGTCATTTTGCTGTTGACATCAGTTAAGGTTAAATCTTTTTGCAACTTGAGACTAGCTCAAGAACCTCTAAGCAGGGGAGTAGATTTAGTGGACACATTATGTCACTTCACTGATTAGTTCACATGCCACTGAGTTCAGTGGTCTTATTCTGATGTGTCATAAATGAACATTTTTCTATTCAGTAAAACTTTCTTAGTCTACTTTGGCAAAACAGATTGAAATATGGGACTCTGAGCTGCCCAAGGAGTTGGTATGTTGATGATTGAAGAGCAGCGTATTCAAATTTGTTCAAAGCCAGAATTCTGAATTGAAAAGATGGGATGACTAACTAGAAGCATATTCTTAAATGTTAATCTTGGTGGCTAGGATATGGCGAGGAAGTTCAGATGTTTTTTCTTTACAATTCCTTTGAATTCAGAAAAAACCTTCTTGCTCATCTAAAATTGTAAGAAAATCAGTTTTGTGGATTAATTGTTCAACTGAAAACTTTTTATTATCTTTTTGTATCAAAAAAGTAATTAAATGTTCTTTCAGGTGGAATGTTATTTGCTGACTTCTTTGAGGCAAATTTTGGGTGAAAAGAAACTAAGCACAATTAAGATGTTTGATTGACTCATTAGACTCAAGTTGAACTCAGTACAAAATGGCCAGTGCTAAGTTATATTCAGCTTAGTTAAAACCTAAACTACACAGCTAAATATATGCTCTTCATTGTTTAATTTCTATACACAGTTAAAACTAGTCCTCGAAAACCTCGTGGGAGACCTAGAAGTGGCTCTGACCGAAATTCAGCTATCCTCTCAGATCCATCTGTGTTTTCCCCTCTAAATAAATCAGAGACCAAATCTGGAGATAAGATCAAGAAGAAAGATTCTAAAAGTATAGAAAAGAAGAGAGGAAGACCTCCCACCTTCCCTGGAGTAAAAATCAAAATAACACATGGAAAGGACATTTCAGAGTTACCAAAGGGAAACAAAGAAGATAGCCTGAAAAAAATTAAAAGGACACCTTCTGCTACGTTTCAGCAAGCCACAAAGATTAAAAAATTAAGAGCAGGTAAACTCTCTCCTCTCAAGTCTAAGTTTAAGACAGGGAAGCTTCAAATAGGAAGGAAGGGGGTACAAATTGTACGACGGAGAGGAAGGCCTCCATCAACAGAAAGGATAAAGACCCCTTCGGGTCTCCTCATTAATTCTGAACTGGAAAAGCCCCAGAAAGTCCGGAAAGACAAGGAAGGAACACCTCCACTTACAAAAGAAGATAAGACAGTTGTCAGACAAAGCCCTCGAAGGATTAAGCCAGTTAGGATTATTCCTTCTTCAAAAAGGACAGATGCAACCATTGCTAAGCAACTCTTACAGAGGGCAAAAAAGGGGGCTCAAAAGAAAATTGAAAAAGAAGCAGCTCAGCTGCAGGGAAGAAAGGTGAAGACACAGGTCAAAAATATTCGACAGTTCATCATGCCTGTTGTCAGTGCTATCTCCTCGCGGATCATTAAGACCCCTCGGCGGTTTATAGAGGATGAGGATTATGACCCTCCAATTAAAATTGCCCGATTAGAGTCTACACCGAATAGTAGATTCAGTGCCCCGTCCTGTGGATCTTCTGAAAAATCAAGTGCAGCTTCTCAGCACTCCTCTCAAATGTCTTCAGACTCCTCTCGATCTAGTAGCCCCAGTGTTGATACCTCCACAGACTCTCAGGCTTCTGAGGAGATTCAGGTACTTCCTGAGGAGCGGAGCGATACCCCTGAAGTTCATCCTCCACTGCCCATTTCCCAGTCCCCAGAAAATGAGAGTAATGATAGGAGAAGCAGAAGGTATTCAGTGTCGGAGAGAAGTTTTGGATCTAGAACGACGAAAAAATTATCAACTCTACAAAGTGCCCCCCAGCAGCAGACCTCCTCGTCTCCACCTCCACCTCTGCTGACTCCACCGCCACCACTGCAGCCAGCCTCCAGTATCTCTGACCACACACCTTGGCTTATGCCTCCAACAATCCCCTTAGCATCACCATTTTTGCCTGCTTCCACTGCTCCTATGCAAGGGAAGCGAAAATCTATTTTGCGAGAACCGACATTTAGGTGGACTTCTTTAAAGCATTCTAGGTCAGAGCCACAATACTTTTCCTCAGCAAAGTATGCCAAAGAAGGTCTTATTCGCAAACCAATATTTGATAATTTCCGACCCCCTCCACTAACTCCCGAGGACGTTGGCTTTGCATCTGGTTTTTCTGCATCTGGTACCGCTGCTTCAGCCCGATTGTTTTCGCCACTCCATTCTGGAACAAGGTTTGATATGCACAAAAGGAGCCCTCTTCTGAGAGCTCCAAGATTTACTCCAAGTGAGGCTCACTCTAGAATATTTGAGTCTGTAACCTTGCCTAGTAATCGAACTTCTGCTGGAACATCTTCTTCAGGAGTATCCAATAGAAAAAGGAAAAGAAAAGTGTTTAGTCCTATTCGATCTGAACCAAGATCTCCTTCTCACTCCATGAGGACAAGAAGTGGAAGGCTTAGTAGTTCTGAGCTCTCACCTCTCACCCCCCCGTCTTCTGTCTCTTCCTCGTTAAGCATTTCTGTTAGTCCTCTTGCCACTAGTGCCTTAAACCCAACTTTTACTTTTCCTTCTCATTCCCTGACTCAGTCTGGGGAATCTGCAGAGAAAAATCAGAGACCAAGGAAGCAGACTAGTGCTCCGGCAGAGCCATTTTCATCAAGTAGTCCTACTCCTCTCTTCCCTTGGTTTACCCCAGGCTCTCAGACTGAAAGAGGGAGAAATAAAGACAAGGCCCCCGAGGAGCTGTCCAAAGATCGAGATGCTGACAAGAGCGTGGAGAAGGACAAGAGTAGAGAGAGAGACCGGGAGAGAGAAAAGGAGAATAAGCGGGAGTCAAGGAAAGAGAAAAGGAAAAAGGGATCAGAAATTCAGAGTAGTTCTGCTTTGTATCCTGTGGGTAGGGTTTCCAAAGAGAAGGTTGTTGGTGAAGATGTTGCCACTTCATCTTCTGCCAAAAAAGCAACAGGGCGGAAGAAGTCTTCATCACATGATTCTGGGACTGATATTACTTCTGTGACTCTTGGGGATACAACAGCTGTCAAAACCAAAATACTTATAAAGAAAGGGAGAGGAAATCTGGAAAAAACCAACTTGGACCTCGGCCCAACTGCCCCATCCCTGGAGAAGGAGAAAACCCTCTGCCTTTCCACTCCTTCATCTAGCACTGTTAAACATTCCACTTCCTCCATAGGCTCCATGTTGGCTCAGGCAGACAAGCTTCCAATGACTGACAAGAGGGTTGCCAGCCTCCTAAAAAAGGCCAAAGCTCAGCTCTGCAAGATTGAGAAGAGTAAGAGTCTTAAACAAACCGACCAGCCCAAAGCACAGGTACTCTTTTCCACCTTGCCTATTAAA | ACAATGGTAAGGAATCTTTTGATGTATTTCCGGGCAGGAGTTGTTTTGTTTGTTTGTTGTTTTTGTTTTTGTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTCTGGGCAGGAGTTTTATTTTGTTAATTCACAACTTTTTCATGGTAGTTTCCTCTTAAGTTTTTTTTCATGACTACCAGTCTACCTTGAATGTTGTCTTGTTTTCTAAGAAACCATCTCGATATGCTTCATTATTTGAGAAATGAGACATGGTTTCTCTGCTGTCTCCTAGTTTATTACCTTTGTTGTAATTAGGATATGTTGAGAAAGGAGCTGTGAATCCTTAATCTATTAAAGGAAGTCTCATAAATTAATTGATGAGGAATGCATTTATATTTAGAAAGCTCAACAATAAAACCTTTGTTGACTTCTGTTCTGTTAGCAAGCAGTTCCATTGTAAAAATGTTCATCTCTTTTGGTGCCTATTAAGGGAAGTTTTAGTCTCAGAAGAATGTTATCAAAAGGGAAAAGAAGATTTGATAAAATAGCCTAGTCTTACTACTTTTTAAAATACAGGTTTATACAAGGTGTTTTAGAAACAGTCTTGTTTTCTTGAATGGCTTGAAAAGCAGCAAACTGAGCTTATTTATAAATTGGCAAATTCCTTTTATTTAGAATAGAACTTTGATTTAATAAGTTGTCATTTTGCTGTTGACATCAGTTAAGGTTAAATCTTTTTGCAACTTGAGACTAGCTCAAGAACCTCTAAGCAGGGGAGTAGATTTAGTGGACACATTATGTCACTTCACTGATTAGTTCACATGCCACTGAGTTCAGTGGTCTTATTCTGATGTGTCATAAATGAACATTTTTCTATTCAGTAAAACTTTCTTAGTCTACTTTGGCAAAACAGATTGAAATATGGGACTCTGAGCTGCCCAAGGAGTTGGTATGTTGATGATTGAAGAGCAGCGTATTCAAATTTGTTCAAAGCCAGAATTCTGAATTGAAAAGATGGGATGACTAACTAGAAGCATATTCTTAAATGTTAATCTTGGTGGCTAGGATATGGCGAGGAAGTTCAGATGTTTTTTCTTTACAATTCCTTTGAATTCAGAAAAAACCTTCTTGCTCATCTAAAATTGTAAGAAAATCAGTTTTGTGGATTAATTGTTCAACTGAAAACTTTTTATTATCTTTTTGTATCAAAAAAGTAATTAAATGTTCTTTCAGGTGGAATGTTATTTGCTGACTTCTTTGAGGCAAATTTTGGGTGAAAAGAAACTAAGCACAATTAAGATGTTTGATTGACTCATTAGACTCAAGTTGAACTCAGTACAAAATGGCCAGTGCTAAGTTATATTCAGCTTAGTTAAAACCTAAACTACACAGCTAAATATATGCTCTTCATTGTTTAATTTCTATACACAGTTAAAACTAGTCCTCGAAAACCTCGTGGGAGACCTAGAAGTGGCTCTGACCGAAATTCAGCTATCCTCTCAGATCCATCTGTGTTTTCCCCTCTAAATAAATCAGAGACCAAATCTGGAGATAAGATCAAGAAGAAAGATTCTAAAAGTATAGAAAAGAAGAGAGGAAGACCTCCCACCTTCCCTGGAGTAAAAATCAAAATAACACATGGAAAGGACATTTCAGAGTTACCAAAGGGAAACAAAGAAGATAGCCTGAAAAAAATTAAAAGGACACCTTCTGCTACGTTTCAGCAAGCCACAAAGATTAAAAAATTAAGAGCAGGTAAACTCTCTCCTCTCAAGTCTAAGTTTAAGACAGGGAAGCTTCAAATAGGAAGGAAGGGGGTACAAATTGTACGACGGAGAGGAAGGCCTCCATCAACAGAAAGGATAAAGACCCCTTCGGGTCTCCTCATTAATTCTGAACTGGAAAAGCCCCAGAAAGTCCGGAAAGACAAGGAAGGAACACCTCCACTTACAAAAGAAGATAAGACAGTTGTCAGACAAAGCCCTCGAAGGATTAAGCCAGTTAGGATTATTCCTTCTTCAAAAAGGACAGATGCAACCATTGCTAAGCAACTCTTACAGAGGGCAAAAAAAGGGGGCTCAAAAGAAAATTGAAAAAGAAGCAGCTCAGCTGCAGGGAAGAAAGGTGAAGACACAGGTCAAAAATATTCGACAGTTCATCATGCCTGTTGTCAGTGCTATCTCCTCGCGGATCATTAAGACCCCTCGGCGGTTTATAGAGGATGAGGATTATGACCCTCCAATTAAAATTGCCCGATTAGAGTCTACACCGAATAGTAGATTCAGTGCCCCGTCCTGTGGATCTTCTGAAAAATCAAGTGCAGCTTCTCAGCACTCCTCTCAAATGTCTTCAGACTCCTCTCGATCTAGTAGCCCCAGTGTTGATACCTCCACAGACTCTCAGGCTTCTGAGGAGATTCAGGTACTTCCTGAGGAGCGGAGCGATACCCCTGAAGTTCATCCTCCACTGCCCATTTCCCAGTCCCCAGAAAATGAGAGTAATGATAGGAGAAGCAGAAGGTATTCAGTGTCGGAGAGAAGTTTTGGATCTAGAACGACGAAAAAATTATCAACTCTACAAAGTGCCCCCCAGCAGCAGACCTCCTCGTCTCCACCTCCACCTCTGCTGACTCCACCGCCACCACTGCAGCCAGCCTCCAGTATCTCTGACCACACACCTTGGCTTATGCCTCCAACAATCCCCTTAGCATCACCATTTTTGCCTGCTTCCACTGCTCCTATGCAAGGGAAGCGAAAATCTATTTTGCGAGAACCGACATTTAGGTGGACTTCTTTAAAGCATTCTAGGTCAGAGCCACAATACTTTTCCTCAGCAAAGTATGCCAAAGAAGGTCTTATTCGCAAACCAATATTTGATAATTTCCGACCCCCTCCACTAACTCCCGAGGACGTTGGCTTTGCATCTGGTTTTTCTGCATCTGGTACCGCTGCTTCAGCCCGATTGTTTTCGCCACTCCATTCTGGAACAAGGTTTGATATGCACAAAAGGAGCCCTCTTCTGAGAGCTCCAAGATTTACTCCAAGTGAGGCTCACTCTAGAATATTTGAGTCTGTAACCTTGCCTAGTAATCGAACTTCTGCTGGAACATCTTCTTCAGGAGTATCCAATAGAAAAAGGAAAAGAAAAGTGTTTAGTCCTATTCGATCTGAACCAAGATCTCCTTCTCACTCCATGAGGACAAGAAGTGGAAGGCTTAGTAGTTCTGAGCTCTCACCTCTCACCCCCCCGTCTTCTGTCTCTTCCTCGTTAAGCATTTCTGTTAGTCCTCTTGCCACTAGTGCCTTAAACCCAACTTTTACTTTTCCTTCTCATTCCCTGACTCAGTCTGGGGAATCTGCAGAGAAAAATCAGAGACCAAGGAAGCAGACTAGTGCTCCGGCAGAGCCATTTTCATCAAGTAGTCCTACTCCTCTCTTCCCTTGGTTTACCCCAGGCTCTCAGACTGAAAGAGGGAGAAATAAAGACAAGGCCCCCGAGGAGCTGTCCAAAGATCGAGATGCTGACAAGAGCGTGGAGAAGGACAAGAGTAGAGAGAGAGACCGGGAGAGAGAAAAGGAGAATAAGCGGGAGTCAAGGAAAGAGAAAAGGAAAAAGGGATCAGAAATTCAGAGTAGTTCTGCTTTGTATCCTGTGGGTAGGGTTTCCAAAGAGAAGGTTGTTGGTGAAGATGTTGCCACTTCATCTTCTGCCAAAAAAGCAACAGGGCGGAAGAAGTCTTCATCACATGATTCTGGGACTGATATTACTTCTGTGACTCTTGGGGATACAACAGCTGTCAAAACCAAAATACTTATAAAGAAAGGGAGAGGAAATCTGGAAAAAACCAACTTGGACCTCGGCCCAACTGCCCCATCCCTGGAGAAGGAGAAAACCCTCTGCCTTTCCACTCCTTCATCTAGCACTGTTAAACATTCCACTTCCTCCATAGGCTCCATGTTGGCTCAGGCAGACAAGCTTCCAATGACTGACAAGAGGGTTGCCAGCCTCCTAAAAAAGGCCAAAGCTCAGCTCTGCAAGATTGAGAAGAGTAAGAGTCTTAAACAAACCGACCAGCCCAAAGCACAGGTACTCTTTTCCACCTTGCCTATTAA | pathogenic | 188,546 |
The genetic variant at chromosome 11, position 118473366, affecting gene KMT2A (lysine methyltransferase 2A): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Wiedemann-Steiner_syndrome'] | GTTTTTTCTTTACAATTCCTTTGAATTCAGAAAAAACCTTCTTGCTCATCTAAAATTGTAAGAAAATCAGTTTTGTGGATTAATTGTTCAACTGAAAACTTTTTATTATCTTTTTGTATCAAAAAAGTAATTAAATGTTCTTTCAGGTGGAATGTTATTTGCTGACTTCTTTGAGGCAAATTTTGGGTGAAAAGAAACTAAGCACAATTAAGATGTTTGATTGACTCATTAGACTCAAGTTGAACTCAGTACAAAATGGCCAGTGCTAAGTTATATTCAGCTTAGTTAAAACCTAAACTACACAGCTAAATATATGCTCTTCATTGTTTAATTTCTATACACAGTTAAAACTAGTCCTCGAAAACCTCGTGGGAGACCTAGAAGTGGCTCTGACCGAAATTCAGCTATCCTCTCAGATCCATCTGTGTTTTCCCCTCTAAATAAATCAGAGACCAAATCTGGAGATAAGATCAAGAAGAAAGATTCTAAAAGTATAGAAAAGAAGAGAGGAAGACCTCCCACCTTCCCTGGAGTAAAAATCAAAATAACACATGGAAAGGACATTTCAGAGTTACCAAAGGGAAACAAAGAAGATAGCCTGAAAAAAATTAAAAGGACACCTTCTGCTACGTTTCAGCAAGCCACAAAGATTAAAAAATTAAGAGCAGGTAAACTCTCTCCTCTCAAGTCTAAGTTTAAGACAGGGAAGCTTCAAATAGGAAGGAAGGGGGTACAAATTGTACGACGGAGAGGAAGGCCTCCATCAACAGAAAGGATAAAGACCCCTTCGGGTCTCCTCATTAATTCTGAACTGGAAAAGCCCCAGAAAGTCCGGAAAGACAAGGAAGGAACACCTCCACTTACAAAAGAAGATAAGACAGTTGTCAGACAAAGCCCTCGAAGGATTAAGCCAGTTAGGATTATTCCTTCTTCAAAAAGGACAGATGCAACCATTGCTAAGCAACTCTTACAGAGGGCAAAAAAGGGGGCTCAAAAGAAAATTGAAAAAGAAGCAGCTCAGCTGCAGGGAAGAAAGGTGAAGACACAGGTCAAAAATATTCGACAGTTCATCATGCCTGTTGTCAGTGCTATCTCCTCGCGGATCATTAAGACCCCTCGGCGGTTTATAGAGGATGAGGATTATGACCCTCCAATTAAAATTGCCCGATTAGAGTCTACACCGAATAGTAGATTCAGTGCCCCGTCCTGTGGATCTTCTGAAAAATCAAGTGCAGCTTCTCAGCACTCCTCTCAAATGTCTTCAGACTCCTCTCGATCTAGTAGCCCCAGTGTTGATACCTCCACAGACTCTCAGGCTTCTGAGGAGATTCAGGTACTTCCTGAGGAGCGGAGCGATACCCCTGAAGTTCATCCTCCACTGCCCATTTCCCAGTCCCCAGAAAATGAGAGTAATGATAGGAGAAGCAGAAGGTATTCAGTGTCGGAGAGAAGTTTTGGATCTAGAACGACGAAAAAATTATCAACTCTACAAAGTGCCCCCCAGCAGCAGACCTCCTCGTCTCCACCTCCACCTCTGCTGACTCCACCGCCACCACTGCAGCCAGCCTCCAGTATCTCTGACCACACACCTTGGCTTATGCCTCCAACAATCCCCTTAGCATCACCATTTTTGCCTGCTTCCACTGCTCCTATGCAAGGGAAGCGAAAATCTATTTTGCGAGAACCGACATTTAGGTGGACTTCTTTAAAGCATTCTAGGTCAGAGCCACAATACTTTTCCTCAGCAAAGTATGCCAAAGAAGGTCTTATTCGCAAACCAATATTTGATAATTTCCGACCCCCTCCACTAACTCCCGAGGACGTTGGCTTTGCATCTGGTTTTTCTGCATCTGGTACCGCTGCTTCAGCCCGATTGTTTTCGCCACTCCATTCTGGAACAAGGTTTGATATGCACAAAAGGAGCCCTCTTCTGAGAGCTCCAAGATTTACTCCAAGTGAGGCTCACTCTAGAATATTTGAGTCTGTAACCTTGCCTAGTAATCGAACTTCTGCTGGAACATCTTCTTCAGGAGTATCCAATAGAAAAAGGAAAAGAAAAGTGTTTAGTCCTATTCGATCTGAACCAAGATCTCCTTCTCACTCCATGAGGACAAGAAGTGGAAGGCTTAGTAGTTCTGAGCTCTCACCTCTCACCCCCCCGTCTTCTGTCTCTTCCTCGTTAAGCATTTCTGTTAGTCCTCTTGCCACTAGTGCCTTAAACCCAACTTTTACTTTTCCTTCTCATTCCCTGACTCAGTCTGGGGAATCTGCAGAGAAAAATCAGAGACCAAGGAAGCAGACTAGTGCTCCGGCAGAGCCATTTTCATCAAGTAGTCCTACTCCTCTCTTCCCTTGGTTTACCCCAGGCTCTCAGACTGAAAGAGGGAGAAATAAAGACAAGGCCCCCGAGGAGCTGTCCAAAGATCGAGATGCTGACAAGAGCGTGGAGAAGGACAAGAGTAGAGAGAGAGACCGGGAGAGAGAAAAGGAGAATAAGCGGGAGTCAAGGAAAGAGAAAAGGAAAAAGGGATCAGAAATTCAGAGTAGTTCTGCTTTGTATCCTGTGGGTAGGGTTTCCAAAGAGAAGGTTGTTGGTGAAGATGTTGCCACTTCATCTTCTGCCAAAAAAGCAACAGGGCGGAAGAAGTCTTCATCACATGATTCTGGGACTGATATTACTTCTGTGACTCTTGGGGATACAACAGCTGTCAAAACCAAAATACTTATAAAGAAAGGGAGAGGAAATCTGGAAAAAACCAACTTGGACCTCGGCCCAACTGCCCCATCCCTGGAGAAGGAGAAAACCCTCTGCCTTTCCACTCCTTCATCTAGCACTGTTAAACATTCCACTTCCTCCATAGGCTCCATGTTGGCTCAGGCAGACAAGCTTCCAATGACTGACAAGAGGGTTGCCAGCCTCCTAAAAAAGGCCAAAGCTCAGCTCTGCAAGATTGAGAAGAGTAAGAGTCTTAAACAAACCGACCAGCCCAAAGCACAGGTACTCTTTTCCACCTTGCCTATTAAAACTAACAGTTTATTGAGCCCTTTCTATGGGCAAGTTTTAGGCTAAGTGGTTCAATTACATCCAGTTATGAGAACCAAGAAAAGTATGGTGGAGGCAGTGGTATTTGCAGTAGTCCTTCAAGGACCAGTAGGATTTTGATAGGTAGAAAGTGGCAGGACATAACATTCTAAGTAGAGGGAACAGTGTGGGTAGAAATGGAAAAGTAAGAAATATATTTGAGGAATACTGGATAGCTGGATTGGCATCTGTGGAAAACTGGTGAACTAAGGCTGAATGAACTAAGGTTGGGACTATATCACAGAGGATGCTGAGTTGTTTGTACCTTATAAGTTTGATGTAATTAAACCAGGGACTTAATTGTAAAGGTACATTTTAATAGTCAAATTGTTTTACTATCCCCGATAGAATAGAAAACCGGAGGGGAGCATTCTCTTCCTCTGAGTAGTGAGGGATTGGAGCAATAGATAATATGTTTTTGCAGAATACAAATGAGAAGTACTGGCCAGGTGCGATGGCTCATGCCTGTAATCCCATCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCTGGCCAACACGGTGAAACCTCATCTCTACTAAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGATGCATGCCTCTAGTCCCAGCTACTGGGGAGATTGAGGCACAAGAATCTCTTGAACCCCGGAGGTAGAGATGGCAGTGAGCTGAGATCCCGCCACTGCACTCCAGCCTGGGCCAATAGAGTAAGTCTCTATCTCAAAATAAATAAATAAATAAATAAACAAACAGATTAGAAGCACTTAGCCTTGAGCCATGGAACAGGAAAGCTATAGAATTCAGTTAGTTAAGATGATGCCAAATATTTTTACAAAGACCAGCATTTTTGTTTTTTTTTTATTGTTTTGTTTATTTGTTTAACAAAGTAAGCTAGTCACTGGCCTTTTCTGAGAAAAGTTGCTGATCTTTAGGGTTTTAAAAAAATCGTCATGTAGTAGATGCCTATTTATGGCAGCAAATCAGGTTAGGTTAAGATGGCCA | GTTTTTTCTTTACAATTCCTTTGAATTCAGAAAAAACCTTCTTGCTCATCTAAAATTGTAAGAAAATCAGTTTTGTGGATTAATTGTTCAACTGAAAACTTTTTATTATCTTTTTGTATCAAAAAAGTAATTAAATGTTCTTTCAGGTGGAATGTTATTTGCTGACTTCTTTGAGGCAAATTTTGGGTGAAAAGAAACTAAGCACAATTAAGATGTTTGATTGACTCATTAGACTCAAGTTGAACTCAGTACAAAATGGCCAGTGCTAAGTTATATTCAGCTTAGTTAAAACCTAAACTACACAGCTAAATATATGCTCTTCATTGTTTAATTTCTATACACAGTTAAAACTAGTCCTCGAAAACCTCGTGGGAGACCTAGAAGTGGCTCTGACCGAAATTCAGCTATCCTCTCAGATCCATCTGTGTTTTCCCCTCTAAATAAATCAGAGACCAAATCTGGAGATAAGATCAAGAAGAAAGATTCTAAAAGTATAGAAAAGAAGAGAGGAAGACCTCCCACCTTCCCTGGAGTAAAAATCAAAATAACACATGGAAAGGACATTTCAGAGTTACCAAAGGGAAACAAAGAAGATAGCCTGAAAAAAATTAAAAGGACACCTTCTGCTACGTTTCAGCAAGCCACAAAGATTAAAAAATTAAGAGCAGGTAAACTCTCTCCTCTCAAGTCTAAGTTTAAGACAGGGAAGCTTCAAATAGGAAGGAAGGGGGTACAAATTGTACGACGGAGAGGAAGGCCTCCATCAACAGAAAGGATAAAGACCCCTTCGGGTCTCCTCATTAATTCTGAACTGGAAAAGCCCCAGAAAGTCCGGAAAGACAAGGAAGGAACACCTCCACTTACAAAAGAAGATAAGACAGTTGTCAGACAAAGCCCTCGAAGGATTAAGCCAGTTAGGATTATTCCTTCTTCAAAAAGGACAGATGCAACCATTGCTAAGCAACTCTTACAGAGGGCAAAAAAGGGGGCTCAAAAGAAAATTGAAAAAGAAGCAGCTCAGCTGCAGGGAAGAAAGGTGAAGACACAGGTCAAAAATATTCGACAGTTCATCATGCCTGTTGTCAGTGCTATCTCCTCGCGGATCATTAAGACCCCTCGGCGGTTTATAGAGGATGAGGATTATGACCCTCCAATTAAAATTGCCCGATTAGAGTCTACACCGAATAGTAGATTCAGTGCCCCGTCCTGTGGATCTTCTGAAAAATCAAGTGCAGCTTCTCAGCACTCCTCTCAAATGTCTTCAGACTCCTCTCGATCTAGTAGCCCCAGTGTTGATACCTCCACAGACTCTCAGGCTTCTGAGGAGATTCAGGTACTTCCTGAGGAGCGGAGCGATACCCCTGAAGTTCATCCTCCACTGCCCATTTCCCAGTCCCCAGAAAATGAGAGTAATGATAGGAGAAGCAGAAGGTATTCAGTGTCGGAGAGAAGTTTTGGATCTAGAACGACGAAAAAATTATCAACTCTACAAAGTGCCCCCCAGCAGCAGACCTCCTCGTCTCCACCTCCACCTCTGCTGACTCCACCGCCACCACTGCAGCCAGCCTCCAGTATCTCTGACCACACACCTTGGCTTATGCCTCCAACAATCCCCTTAGCATCACCATTTTTGCCTGCTTCCACTGCTCCTATGCAAGGGAAGCGAAAATCTATTTTGCGAGAACCGACATTTAGGTGGACTTCTTTAAAGCATTCTAGGTCAGAGCCACAATACTTTTCCTCAGCAAAGTATGCCAAAGAAGGTCTTATTCGCAAACCAATATTTGATAATTTCCGACCCCCTCCACTAACTCCCGAGGACGTTGGCTTTGCATCTGGTTTTTCTGCATCTGGTACCGCTGCTTCAGCCCGATTGTTTTCGCCACTCCATTCTGGAACAAGGTTTGATATGCACAAAAGGAGCCCTCTTCTGAGAGCTCCAAGATTTACTCCAAGTGAGGCTCACTCTAGAATATTTGAGTCTGTAACCTTGCCTAGTAATCGAACTTCTGCTGGAACATCTTCTTCAGGAGTATCCAATAGAAAAAGGAAAAGTGTTTAGTCCTATTCGATCTGAACCAAGATCTCCTTCTCACTCCATGAGGACAAGAAGTGGAAGGCTTAGTAGTTCTGAGCTCTCACCTCTCACCCCCCCGTCTTCTGTCTCTTCCTCGTTAAGCATTTCTGTTAGTCCTCTTGCCACTAGTGCCTTAAACCCAACTTTTACTTTTCCTTCTCATTCCCTGACTCAGTCTGGGGAATCTGCAGAGAAAAATCAGAGACCAAGGAAGCAGACTAGTGCTCCGGCAGAGCCATTTTCATCAAGTAGTCCTACTCCTCTCTTCCCTTGGTTTACCCCAGGCTCTCAGACTGAAAGAGGGAGAAATAAAGACAAGGCCCCCGAGGAGCTGTCCAAAGATCGAGATGCTGACAAGAGCGTGGAGAAGGACAAGAGTAGAGAGAGAGACCGGGAGAGAGAAAAGGAGAATAAGCGGGAGTCAAGGAAAGAGAAAAGGAAAAAGGGATCAGAAATTCAGAGTAGTTCTGCTTTGTATCCTGTGGGTAGGGTTTCCAAAGAGAAGGTTGTTGGTGAAGATGTTGCCACTTCATCTTCTGCCAAAAAAGCAACAGGGCGGAAGAAGTCTTCATCACATGATTCTGGGACTGATATTACTTCTGTGACTCTTGGGGATACAACAGCTGTCAAAACCAAAATACTTATAAAGAAAGGGAGAGGAAATCTGGAAAAAACCAACTTGGACCTCGGCCCAACTGCCCCATCCCTGGAGAAGGAGAAAACCCTCTGCCTTTCCACTCCTTCATCTAGCACTGTTAAACATTCCACTTCCTCCATAGGCTCCATGTTGGCTCAGGCAGACAAGCTTCCAATGACTGACAAGAGGGTTGCCAGCCTCCTAAAAAAGGCCAAAGCTCAGCTCTGCAAGATTGAGAAGAGTAAGAGTCTTAAACAAACCGACCAGCCCAAAGCACAGGTACTCTTTTCCACCTTGCCTATTAAAACTAACAGTTTATTGAGCCCTTTCTATGGGCAAGTTTTAGGCTAAGTGGTTCAATTACATCCAGTTATGAGAACCAAGAAAAGTATGGTGGAGGCAGTGGTATTTGCAGTAGTCCTTCAAGGACCAGTAGGATTTTGATAGGTAGAAAGTGGCAGGACATAACATTCTAAGTAGAGGGAACAGTGTGGGTAGAAATGGAAAAGTAAGAAATATATTTGAGGAATACTGGATAGCTGGATTGGCATCTGTGGAAAACTGGTGAACTAAGGCTGAATGAACTAAGGTTGGGACTATATCACAGAGGATGCTGAGTTGTTTGTACCTTATAAGTTTGATGTAATTAAACCAGGGACTTAATTGTAAAGGTACATTTTAATAGTCAAATTGTTTTACTATCCCCGATAGAATAGAAAACCGGAGGGGAGCATTCTCTTCCTCTGAGTAGTGAGGGATTGGAGCAATAGATAATATGTTTTTGCAGAATACAAATGAGAAGTACTGGCCAGGTGCGATGGCTCATGCCTGTAATCCCATCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCTGGCCAACACGGTGAAACCTCATCTCTACTAAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGATGCATGCCTCTAGTCCCAGCTACTGGGGAGATTGAGGCACAAGAATCTCTTGAACCCCGGAGGTAGAGATGGCAGTGAGCTGAGATCCCGCCACTGCACTCCAGCCTGGGCCAATAGAGTAAGTCTCTATCTCAAAATAAATAAATAAATAAATAAACAAACAGATTAGAAGCACTTAGCCTTGAGCCATGGAACAGGAAAGCTATAGAATTCAGTTAGTTAAGATGATGCCAAATATTTTTACAAAGACCAGCATTTTTGTTTTTTTTTTATTGTTTTGTTTATTTGTTTAACAAAGTAAGCTAGTCACTGGCCTTTTCTGAGAAAAGTTGCTGATCTTTAGGGTTTTAAAAAAATCGTCATGTAGTAGATGCCTATTTATGGCAGCAAATCAGGTTAGGTTAAGATGGCCANNNNN | pathogenic | 188,555 |
Is the variant located on chromosome 11 at position 118473470, gene KMT2A (lysine methyltransferase 2A), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Inborn_genetic_diseases', 'Wiedemann-Steiner_syndrome'] | ATTATCTTTTTGTATCAAAAAAGTAATTAAATGTTCTTTCAGGTGGAATGTTATTTGCTGACTTCTTTGAGGCAAATTTTGGGTGAAAAGAAACTAAGCACAATTAAGATGTTTGATTGACTCATTAGACTCAAGTTGAACTCAGTACAAAATGGCCAGTGCTAAGTTATATTCAGCTTAGTTAAAACCTAAACTACACAGCTAAATATATGCTCTTCATTGTTTAATTTCTATACACAGTTAAAACTAGTCCTCGAAAACCTCGTGGGAGACCTAGAAGTGGCTCTGACCGAAATTCAGCTATCCTCTCAGATCCATCTGTGTTTTCCCCTCTAAATAAATCAGAGACCAAATCTGGAGATAAGATCAAGAAGAAAGATTCTAAAAGTATAGAAAAGAAGAGAGGAAGACCTCCCACCTTCCCTGGAGTAAAAATCAAAATAACACATGGAAAGGACATTTCAGAGTTACCAAAGGGAAACAAAGAAGATAGCCTGAAAAAAATTAAAAGGACACCTTCTGCTACGTTTCAGCAAGCCACAAAGATTAAAAAATTAAGAGCAGGTAAACTCTCTCCTCTCAAGTCTAAGTTTAAGACAGGGAAGCTTCAAATAGGAAGGAAGGGGGTACAAATTGTACGACGGAGAGGAAGGCCTCCATCAACAGAAAGGATAAAGACCCCTTCGGGTCTCCTCATTAATTCTGAACTGGAAAAGCCCCAGAAAGTCCGGAAAGACAAGGAAGGAACACCTCCACTTACAAAAGAAGATAAGACAGTTGTCAGACAAAGCCCTCGAAGGATTAAGCCAGTTAGGATTATTCCTTCTTCAAAAAGGACAGATGCAACCATTGCTAAGCAACTCTTACAGAGGGCAAAAAAGGGGGCTCAAAAGAAAATTGAAAAAGAAGCAGCTCAGCTGCAGGGAAGAAAGGTGAAGACACAGGTCAAAAATATTCGACAGTTCATCATGCCTGTTGTCAGTGCTATCTCCTCGCGGATCATTAAGACCCCTCGGCGGTTTATAGAGGATGAGGATTATGACCCTCCAATTAAAATTGCCCGATTAGAGTCTACACCGAATAGTAGATTCAGTGCCCCGTCCTGTGGATCTTCTGAAAAATCAAGTGCAGCTTCTCAGCACTCCTCTCAAATGTCTTCAGACTCCTCTCGATCTAGTAGCCCCAGTGTTGATACCTCCACAGACTCTCAGGCTTCTGAGGAGATTCAGGTACTTCCTGAGGAGCGGAGCGATACCCCTGAAGTTCATCCTCCACTGCCCATTTCCCAGTCCCCAGAAAATGAGAGTAATGATAGGAGAAGCAGAAGGTATTCAGTGTCGGAGAGAAGTTTTGGATCTAGAACGACGAAAAAATTATCAACTCTACAAAGTGCCCCCCAGCAGCAGACCTCCTCGTCTCCACCTCCACCTCTGCTGACTCCACCGCCACCACTGCAGCCAGCCTCCAGTATCTCTGACCACACACCTTGGCTTATGCCTCCAACAATCCCCTTAGCATCACCATTTTTGCCTGCTTCCACTGCTCCTATGCAAGGGAAGCGAAAATCTATTTTGCGAGAACCGACATTTAGGTGGACTTCTTTAAAGCATTCTAGGTCAGAGCCACAATACTTTTCCTCAGCAAAGTATGCCAAAGAAGGTCTTATTCGCAAACCAATATTTGATAATTTCCGACCCCCTCCACTAACTCCCGAGGACGTTGGCTTTGCATCTGGTTTTTCTGCATCTGGTACCGCTGCTTCAGCCCGATTGTTTTCGCCACTCCATTCTGGAACAAGGTTTGATATGCACAAAAGGAGCCCTCTTCTGAGAGCTCCAAGATTTACTCCAAGTGAGGCTCACTCTAGAATATTTGAGTCTGTAACCTTGCCTAGTAATCGAACTTCTGCTGGAACATCTTCTTCAGGAGTATCCAATAGAAAAAGGAAAAGAAAAGTGTTTAGTCCTATTCGATCTGAACCAAGATCTCCTTCTCACTCCATGAGGACAAGAAGTGGAAGGCTTAGTAGTTCTGAGCTCTCACCTCTCACCCCCCCGTCTTCTGTCTCTTCCTCGTTAAGCATTTCTGTTAGTCCTCTTGCCACTAGTGCCTTAAACCCAACTTTTACTTTTCCTTCTCATTCCCTGACTCAGTCTGGGGAATCTGCAGAGAAAAATCAGAGACCAAGGAAGCAGACTAGTGCTCCGGCAGAGCCATTTTCATCAAGTAGTCCTACTCCTCTCTTCCCTTGGTTTACCCCAGGCTCTCAGACTGAAAGAGGGAGAAATAAAGACAAGGCCCCCGAGGAGCTGTCCAAAGATCGAGATGCTGACAAGAGCGTGGAGAAGGACAAGAGTAGAGAGAGAGACCGGGAGAGAGAAAAGGAGAATAAGCGGGAGTCAAGGAAAGAGAAAAGGAAAAAGGGATCAGAAATTCAGAGTAGTTCTGCTTTGTATCCTGTGGGTAGGGTTTCCAAAGAGAAGGTTGTTGGTGAAGATGTTGCCACTTCATCTTCTGCCAAAAAAGCAACAGGGCGGAAGAAGTCTTCATCACATGATTCTGGGACTGATATTACTTCTGTGACTCTTGGGGATACAACAGCTGTCAAAACCAAAATACTTATAAAGAAAGGGAGAGGAAATCTGGAAAAAACCAACTTGGACCTCGGCCCAACTGCCCCATCCCTGGAGAAGGAGAAAACCCTCTGCCTTTCCACTCCTTCATCTAGCACTGTTAAACATTCCACTTCCTCCATAGGCTCCATGTTGGCTCAGGCAGACAAGCTTCCAATGACTGACAAGAGGGTTGCCAGCCTCCTAAAAAAGGCCAAAGCTCAGCTCTGCAAGATTGAGAAGAGTAAGAGTCTTAAACAAACCGACCAGCCCAAAGCACAGGTACTCTTTTCCACCTTGCCTATTAAAACTAACAGTTTATTGAGCCCTTTCTATGGGCAAGTTTTAGGCTAAGTGGTTCAATTACATCCAGTTATGAGAACCAAGAAAAGTATGGTGGAGGCAGTGGTATTTGCAGTAGTCCTTCAAGGACCAGTAGGATTTTGATAGGTAGAAAGTGGCAGGACATAACATTCTAAGTAGAGGGAACAGTGTGGGTAGAAATGGAAAAGTAAGAAATATATTTGAGGAATACTGGATAGCTGGATTGGCATCTGTGGAAAACTGGTGAACTAAGGCTGAATGAACTAAGGTTGGGACTATATCACAGAGGATGCTGAGTTGTTTGTACCTTATAAGTTTGATGTAATTAAACCAGGGACTTAATTGTAAAGGTACATTTTAATAGTCAAATTGTTTTACTATCCCCGATAGAATAGAAAACCGGAGGGGAGCATTCTCTTCCTCTGAGTAGTGAGGGATTGGAGCAATAGATAATATGTTTTTGCAGAATACAAATGAGAAGTACTGGCCAGGTGCGATGGCTCATGCCTGTAATCCCATCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCTGGCCAACACGGTGAAACCTCATCTCTACTAAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGATGCATGCCTCTAGTCCCAGCTACTGGGGAGATTGAGGCACAAGAATCTCTTGAACCCCGGAGGTAGAGATGGCAGTGAGCTGAGATCCCGCCACTGCACTCCAGCCTGGGCCAATAGAGTAAGTCTCTATCTCAAAATAAATAAATAAATAAATAAACAAACAGATTAGAAGCACTTAGCCTTGAGCCATGGAACAGGAAAGCTATAGAATTCAGTTAGTTAAGATGATGCCAAATATTTTTACAAAGACCAGCATTTTTGTTTTTTTTTTATTGTTTTGTTTATTTGTTTAACAAAGTAAGCTAGTCACTGGCCTTTTCTGAGAAAAGTTGCTGATCTTTAGGGTTTTAAAAAAATCGTCATGTAGTAGATGCCTATTTATGGCAGCAAATCAGGTTAGGTTAAGATGGCCATAAACTTATATTTGTAATGTTATTCACGGGCTGGGTACGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGA | ATTATCTTTTTGTATCAAAAAAGTAATTAAATGTTCTTTCAGGTGGAATGTTATTTGCTGACTTCTTTGAGGCAAATTTTGGGTGAAAAGAAACTAAGCACAATTAAGATGTTTGATTGACTCATTAGACTCAAGTTGAACTCAGTACAAAATGGCCAGTGCTAAGTTATATTCAGCTTAGTTAAAACCTAAACTACACAGCTAAATATATGCTCTTCATTGTTTAATTTCTATACACAGTTAAAACTAGTCCTCGAAAACCTCGTGGGAGACCTAGAAGTGGCTCTGACCGAAATTCAGCTATCCTCTCAGATCCATCTGTGTTTTCCCCTCTAAATAAATCAGAGACCAAATCTGGAGATAAGATCAAGAAGAAAGATTCTAAAAGTATAGAAAAGAAGAGAGGAAGACCTCCCACCTTCCCTGGAGTAAAAATCAAAATAACACATGGAAAGGACATTTCAGAGTTACCAAAGGGAAACAAAGAAGATAGCCTGAAAAAAATTAAAAGGACACCTTCTGCTACGTTTCAGCAAGCCACAAAGATTAAAAAATTAAGAGCAGGTAAACTCTCTCCTCTCAAGTCTAAGTTTAAGACAGGGAAGCTTCAAATAGGAAGGAAGGGGGTACAAATTGTACGACGGAGAGGAAGGCCTCCATCAACAGAAAGGATAAAGACCCCTTCGGGTCTCCTCATTAATTCTGAACTGGAAAAGCCCCAGAAAGTCCGGAAAGACAAGGAAGGAACACCTCCACTTACAAAAGAAGATAAGACAGTTGTCAGACAAAGCCCTCGAAGGATTAAGCCAGTTAGGATTATTCCTTCTTCAAAAAGGACAGATGCAACCATTGCTAAGCAACTCTTACAGAGGGCAAAAAAGGGGGCTCAAAAGAAAATTGAAAAAGAAGCAGCTCAGCTGCAGGGAAGAAAGGTGAAGACACAGGTCAAAAATATTCGACAGTTCATCATGCCTGTTGTCAGTGCTATCTCCTCGCGGATCATTAAGACCCCTCGGCGGTTTATAGAGGATGAGGATTATGACCCTCCAATTAAAATTGCCCGATTAGAGTCTACACCGAATAGTAGATTCAGTGCCCCGTCCTGTGGATCTTCTGAAAAATCAAGTGCAGCTTCTCAGCACTCCTCTCAAATGTCTTCAGACTCCTCTCGATCTAGTAGCCCCAGTGTTGATACCTCCACAGACTCTCAGGCTTCTGAGGAGATTCAGGTACTTCCTGAGGAGCGGAGCGATACCCCTGAAGTTCATCCTCCACTGCCCATTTCCCAGTCCCCAGAAAATGAGAGTAATGATAGGAGAAGCAGAAGGTATTCAGTGTCGGAGAGAAGTTTTGGATCTAGAACGACGAAAAAATTATCAACTCTACAAAGTGCCCCCCAGCAGCAGACCTCCTCGTCTCCACCTCCACCTCTGCTGACTCCACCGCCACCACTGCAGCCAGCCTCCAGTATCTCTGACCACACACCTTGGCTTATGCCTCCAACAATCCCCTTAGCATCACCATTTTTGCCTGCTTCCACTGCTCCTATGCAAGGGAAGCGAAAATCTATTTTGCGAGAACCGACATTTAGGTGGACTTCTTTAAAGCATTCTAGGTCAGAGCCACAATACTTTTCCTCAGCAAAGTATGCCAAAGAAGGTCTTATTCGCAAACCAATATTTGATAATTTCCGACCCCCTCCACTAACTCCCGAGGACGTTGGCTTTGCATCTGGTTTTTCTGCATCTGGTACCGCTGCTTCAGCCCGATTGTTTTCGCCACTCCATTCTGGAACAAGGTTTGATATGCACAAAAGGAGCCCTCTTCTGAGAGCTCCAAGATTTACTCCAAGTGAGGCTCACTCTAGAATATTTGAGTCTGTAACCTTGCCTAGTAATCGAACTTCTGCTGGAACATCTTCTTCAGGAGTATCCAATAGAAAAAGGAAAAGAAAAGTGTTTAGTCCTATTCGATCTGAACCAAGATCTCCTTCTCACTCCATGAGGACAAGAAGTGGAAGGCTTAGTAGTTCTGAGCTCTCACCTCTCACCCCCCCCGTCTTCTGTCTCTTCCTCGTTAAGCATTTCTGTTAGTCCTCTTGCCACTAGTGCCTTAAACCCAACTTTTACTTTTCCTTCTCATTCCCTGACTCAGTCTGGGGAATCTGCAGAGAAAAATCAGAGACCAAGGAAGCAGACTAGTGCTCCGGCAGAGCCATTTTCATCAAGTAGTCCTACTCCTCTCTTCCCTTGGTTTACCCCAGGCTCTCAGACTGAAAGAGGGAGAAATAAAGACAAGGCCCCCGAGGAGCTGTCCAAAGATCGAGATGCTGACAAGAGCGTGGAGAAGGACAAGAGTAGAGAGAGAGACCGGGAGAGAGAAAAGGAGAATAAGCGGGAGTCAAGGAAAGAGAAAAGGAAAAAGGGATCAGAAATTCAGAGTAGTTCTGCTTTGTATCCTGTGGGTAGGGTTTCCAAAGAGAAGGTTGTTGGTGAAGATGTTGCCACTTCATCTTCTGCCAAAAAAGCAACAGGGCGGAAGAAGTCTTCATCACATGATTCTGGGACTGATATTACTTCTGTGACTCTTGGGGATACAACAGCTGTCAAAACCAAAATACTTATAAAGAAAGGGAGAGGAAATCTGGAAAAAACCAACTTGGACCTCGGCCCAACTGCCCCATCCCTGGAGAAGGAGAAAACCCTCTGCCTTTCCACTCCTTCATCTAGCACTGTTAAACATTCCACTTCCTCCATAGGCTCCATGTTGGCTCAGGCAGACAAGCTTCCAATGACTGACAAGAGGGTTGCCAGCCTCCTAAAAAAGGCCAAAGCTCAGCTCTGCAAGATTGAGAAGAGTAAGAGTCTTAAACAAACCGACCAGCCCAAAGCACAGGTACTCTTTTCCACCTTGCCTATTAAAACTAACAGTTTATTGAGCCCTTTCTATGGGCAAGTTTTAGGCTAAGTGGTTCAATTACATCCAGTTATGAGAACCAAGAAAAGTATGGTGGAGGCAGTGGTATTTGCAGTAGTCCTTCAAGGACCAGTAGGATTTTGATAGGTAGAAAGTGGCAGGACATAACATTCTAAGTAGAGGGAACAGTGTGGGTAGAAATGGAAAAGTAAGAAATATATTTGAGGAATACTGGATAGCTGGATTGGCATCTGTGGAAAACTGGTGAACTAAGGCTGAATGAACTAAGGTTGGGACTATATCACAGAGGATGCTGAGTTGTTTGTACCTTATAAGTTTGATGTAATTAAACCAGGGACTTAATTGTAAAGGTACATTTTAATAGTCAAATTGTTTTACTATCCCCGATAGAATAGAAAACCGGAGGGGAGCATTCTCTTCCTCTGAGTAGTGAGGGATTGGAGCAATAGATAATATGTTTTTGCAGAATACAAATGAGAAGTACTGGCCAGGTGCGATGGCTCATGCCTGTAATCCCATCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCTGGCCAACACGGTGAAACCTCATCTCTACTAAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGATGCATGCCTCTAGTCCCAGCTACTGGGGAGATTGAGGCACAAGAATCTCTTGAACCCCGGAGGTAGAGATGGCAGTGAGCTGAGATCCCGCCACTGCACTCCAGCCTGGGCCAATAGAGTAAGTCTCTATCTCAAAATAAATAAATAAATAAATAAACAAACAGATTAGAAGCACTTAGCCTTGAGCCATGGAACAGGAAAGCTATAGAATTCAGTTAGTTAAGATGATGCCAAATATTTTTACAAAGACCAGCATTTTTGTTTTTTTTTTATTGTTTTGTTTATTTGTTTAACAAAGTAAGCTAGTCACTGGCCTTTTCTGAGAAAAGTTGCTGATCTTTAGGGTTTTAAAAAAATCGTCATGTAGTAGATGCCTATTTATGGCAGCAAATCAGGTTAGGTTAAGATGGCCATAAACTTATATTTGTAATGTTATTCACGGGCTGGGTACGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAG | pathogenic | 188,557 |
Benign or pathogenic: chromosome 11, position 118473470, gene KMT2A (lysine methyltransferase 2A) variant? Disease(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Wiedemann-Steiner_syndrome'] | ATTATCTTTTTGTATCAAAAAAGTAATTAAATGTTCTTTCAGGTGGAATGTTATTTGCTGACTTCTTTGAGGCAAATTTTGGGTGAAAAGAAACTAAGCACAATTAAGATGTTTGATTGACTCATTAGACTCAAGTTGAACTCAGTACAAAATGGCCAGTGCTAAGTTATATTCAGCTTAGTTAAAACCTAAACTACACAGCTAAATATATGCTCTTCATTGTTTAATTTCTATACACAGTTAAAACTAGTCCTCGAAAACCTCGTGGGAGACCTAGAAGTGGCTCTGACCGAAATTCAGCTATCCTCTCAGATCCATCTGTGTTTTCCCCTCTAAATAAATCAGAGACCAAATCTGGAGATAAGATCAAGAAGAAAGATTCTAAAAGTATAGAAAAGAAGAGAGGAAGACCTCCCACCTTCCCTGGAGTAAAAATCAAAATAACACATGGAAAGGACATTTCAGAGTTACCAAAGGGAAACAAAGAAGATAGCCTGAAAAAAATTAAAAGGACACCTTCTGCTACGTTTCAGCAAGCCACAAAGATTAAAAAATTAAGAGCAGGTAAACTCTCTCCTCTCAAGTCTAAGTTTAAGACAGGGAAGCTTCAAATAGGAAGGAAGGGGGTACAAATTGTACGACGGAGAGGAAGGCCTCCATCAACAGAAAGGATAAAGACCCCTTCGGGTCTCCTCATTAATTCTGAACTGGAAAAGCCCCAGAAAGTCCGGAAAGACAAGGAAGGAACACCTCCACTTACAAAAGAAGATAAGACAGTTGTCAGACAAAGCCCTCGAAGGATTAAGCCAGTTAGGATTATTCCTTCTTCAAAAAGGACAGATGCAACCATTGCTAAGCAACTCTTACAGAGGGCAAAAAAGGGGGCTCAAAAGAAAATTGAAAAAGAAGCAGCTCAGCTGCAGGGAAGAAAGGTGAAGACACAGGTCAAAAATATTCGACAGTTCATCATGCCTGTTGTCAGTGCTATCTCCTCGCGGATCATTAAGACCCCTCGGCGGTTTATAGAGGATGAGGATTATGACCCTCCAATTAAAATTGCCCGATTAGAGTCTACACCGAATAGTAGATTCAGTGCCCCGTCCTGTGGATCTTCTGAAAAATCAAGTGCAGCTTCTCAGCACTCCTCTCAAATGTCTTCAGACTCCTCTCGATCTAGTAGCCCCAGTGTTGATACCTCCACAGACTCTCAGGCTTCTGAGGAGATTCAGGTACTTCCTGAGGAGCGGAGCGATACCCCTGAAGTTCATCCTCCACTGCCCATTTCCCAGTCCCCAGAAAATGAGAGTAATGATAGGAGAAGCAGAAGGTATTCAGTGTCGGAGAGAAGTTTTGGATCTAGAACGACGAAAAAATTATCAACTCTACAAAGTGCCCCCCAGCAGCAGACCTCCTCGTCTCCACCTCCACCTCTGCTGACTCCACCGCCACCACTGCAGCCAGCCTCCAGTATCTCTGACCACACACCTTGGCTTATGCCTCCAACAATCCCCTTAGCATCACCATTTTTGCCTGCTTCCACTGCTCCTATGCAAGGGAAGCGAAAATCTATTTTGCGAGAACCGACATTTAGGTGGACTTCTTTAAAGCATTCTAGGTCAGAGCCACAATACTTTTCCTCAGCAAAGTATGCCAAAGAAGGTCTTATTCGCAAACCAATATTTGATAATTTCCGACCCCCTCCACTAACTCCCGAGGACGTTGGCTTTGCATCTGGTTTTTCTGCATCTGGTACCGCTGCTTCAGCCCGATTGTTTTCGCCACTCCATTCTGGAACAAGGTTTGATATGCACAAAAGGAGCCCTCTTCTGAGAGCTCCAAGATTTACTCCAAGTGAGGCTCACTCTAGAATATTTGAGTCTGTAACCTTGCCTAGTAATCGAACTTCTGCTGGAACATCTTCTTCAGGAGTATCCAATAGAAAAAGGAAAAGAAAAGTGTTTAGTCCTATTCGATCTGAACCAAGATCTCCTTCTCACTCCATGAGGACAAGAAGTGGAAGGCTTAGTAGTTCTGAGCTCTCACCTCTCACCCCCCCGTCTTCTGTCTCTTCCTCGTTAAGCATTTCTGTTAGTCCTCTTGCCACTAGTGCCTTAAACCCAACTTTTACTTTTCCTTCTCATTCCCTGACTCAGTCTGGGGAATCTGCAGAGAAAAATCAGAGACCAAGGAAGCAGACTAGTGCTCCGGCAGAGCCATTTTCATCAAGTAGTCCTACTCCTCTCTTCCCTTGGTTTACCCCAGGCTCTCAGACTGAAAGAGGGAGAAATAAAGACAAGGCCCCCGAGGAGCTGTCCAAAGATCGAGATGCTGACAAGAGCGTGGAGAAGGACAAGAGTAGAGAGAGAGACCGGGAGAGAGAAAAGGAGAATAAGCGGGAGTCAAGGAAAGAGAAAAGGAAAAAGGGATCAGAAATTCAGAGTAGTTCTGCTTTGTATCCTGTGGGTAGGGTTTCCAAAGAGAAGGTTGTTGGTGAAGATGTTGCCACTTCATCTTCTGCCAAAAAAGCAACAGGGCGGAAGAAGTCTTCATCACATGATTCTGGGACTGATATTACTTCTGTGACTCTTGGGGATACAACAGCTGTCAAAACCAAAATACTTATAAAGAAAGGGAGAGGAAATCTGGAAAAAACCAACTTGGACCTCGGCCCAACTGCCCCATCCCTGGAGAAGGAGAAAACCCTCTGCCTTTCCACTCCTTCATCTAGCACTGTTAAACATTCCACTTCCTCCATAGGCTCCATGTTGGCTCAGGCAGACAAGCTTCCAATGACTGACAAGAGGGTTGCCAGCCTCCTAAAAAAGGCCAAAGCTCAGCTCTGCAAGATTGAGAAGAGTAAGAGTCTTAAACAAACCGACCAGCCCAAAGCACAGGTACTCTTTTCCACCTTGCCTATTAAAACTAACAGTTTATTGAGCCCTTTCTATGGGCAAGTTTTAGGCTAAGTGGTTCAATTACATCCAGTTATGAGAACCAAGAAAAGTATGGTGGAGGCAGTGGTATTTGCAGTAGTCCTTCAAGGACCAGTAGGATTTTGATAGGTAGAAAGTGGCAGGACATAACATTCTAAGTAGAGGGAACAGTGTGGGTAGAAATGGAAAAGTAAGAAATATATTTGAGGAATACTGGATAGCTGGATTGGCATCTGTGGAAAACTGGTGAACTAAGGCTGAATGAACTAAGGTTGGGACTATATCACAGAGGATGCTGAGTTGTTTGTACCTTATAAGTTTGATGTAATTAAACCAGGGACTTAATTGTAAAGGTACATTTTAATAGTCAAATTGTTTTACTATCCCCGATAGAATAGAAAACCGGAGGGGAGCATTCTCTTCCTCTGAGTAGTGAGGGATTGGAGCAATAGATAATATGTTTTTGCAGAATACAAATGAGAAGTACTGGCCAGGTGCGATGGCTCATGCCTGTAATCCCATCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCTGGCCAACACGGTGAAACCTCATCTCTACTAAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGATGCATGCCTCTAGTCCCAGCTACTGGGGAGATTGAGGCACAAGAATCTCTTGAACCCCGGAGGTAGAGATGGCAGTGAGCTGAGATCCCGCCACTGCACTCCAGCCTGGGCCAATAGAGTAAGTCTCTATCTCAAAATAAATAAATAAATAAATAAACAAACAGATTAGAAGCACTTAGCCTTGAGCCATGGAACAGGAAAGCTATAGAATTCAGTTAGTTAAGATGATGCCAAATATTTTTACAAAGACCAGCATTTTTGTTTTTTTTTTATTGTTTTGTTTATTTGTTTAACAAAGTAAGCTAGTCACTGGCCTTTTCTGAGAAAAGTTGCTGATCTTTAGGGTTTTAAAAAAATCGTCATGTAGTAGATGCCTATTTATGGCAGCAAATCAGGTTAGGTTAAGATGGCCATAAACTTATATTTGTAATGTTATTCACGGGCTGGGTACGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGA | ATTATCTTTTTGTATCAAAAAAGTAATTAAATGTTCTTTCAGGTGGAATGTTATTTGCTGACTTCTTTGAGGCAAATTTTGGGTGAAAAGAAACTAAGCACAATTAAGATGTTTGATTGACTCATTAGACTCAAGTTGAACTCAGTACAAAATGGCCAGTGCTAAGTTATATTCAGCTTAGTTAAAACCTAAACTACACAGCTAAATATATGCTCTTCATTGTTTAATTTCTATACACAGTTAAAACTAGTCCTCGAAAACCTCGTGGGAGACCTAGAAGTGGCTCTGACCGAAATTCAGCTATCCTCTCAGATCCATCTGTGTTTTCCCCTCTAAATAAATCAGAGACCAAATCTGGAGATAAGATCAAGAAGAAAGATTCTAAAAGTATAGAAAAGAAGAGAGGAAGACCTCCCACCTTCCCTGGAGTAAAAATCAAAATAACACATGGAAAGGACATTTCAGAGTTACCAAAGGGAAACAAAGAAGATAGCCTGAAAAAAATTAAAAGGACACCTTCTGCTACGTTTCAGCAAGCCACAAAGATTAAAAAATTAAGAGCAGGTAAACTCTCTCCTCTCAAGTCTAAGTTTAAGACAGGGAAGCTTCAAATAGGAAGGAAGGGGGTACAAATTGTACGACGGAGAGGAAGGCCTCCATCAACAGAAAGGATAAAGACCCCTTCGGGTCTCCTCATTAATTCTGAACTGGAAAAGCCCCAGAAAGTCCGGAAAGACAAGGAAGGAACACCTCCACTTACAAAAGAAGATAAGACAGTTGTCAGACAAAGCCCTCGAAGGATTAAGCCAGTTAGGATTATTCCTTCTTCAAAAAGGACAGATGCAACCATTGCTAAGCAACTCTTACAGAGGGCAAAAAAGGGGGCTCAAAAGAAAATTGAAAAAGAAGCAGCTCAGCTGCAGGGAAGAAAGGTGAAGACACAGGTCAAAAATATTCGACAGTTCATCATGCCTGTTGTCAGTGCTATCTCCTCGCGGATCATTAAGACCCCTCGGCGGTTTATAGAGGATGAGGATTATGACCCTCCAATTAAAATTGCCCGATTAGAGTCTACACCGAATAGTAGATTCAGTGCCCCGTCCTGTGGATCTTCTGAAAAATCAAGTGCAGCTTCTCAGCACTCCTCTCAAATGTCTTCAGACTCCTCTCGATCTAGTAGCCCCAGTGTTGATACCTCCACAGACTCTCAGGCTTCTGAGGAGATTCAGGTACTTCCTGAGGAGCGGAGCGATACCCCTGAAGTTCATCCTCCACTGCCCATTTCCCAGTCCCCAGAAAATGAGAGTAATGATAGGAGAAGCAGAAGGTATTCAGTGTCGGAGAGAAGTTTTGGATCTAGAACGACGAAAAAATTATCAACTCTACAAAGTGCCCCCCAGCAGCAGACCTCCTCGTCTCCACCTCCACCTCTGCTGACTCCACCGCCACCACTGCAGCCAGCCTCCAGTATCTCTGACCACACACCTTGGCTTATGCCTCCAACAATCCCCTTAGCATCACCATTTTTGCCTGCTTCCACTGCTCCTATGCAAGGGAAGCGAAAATCTATTTTGCGAGAACCGACATTTAGGTGGACTTCTTTAAAGCATTCTAGGTCAGAGCCACAATACTTTTCCTCAGCAAAGTATGCCAAAGAAGGTCTTATTCGCAAACCAATATTTGATAATTTCCGACCCCCTCCACTAACTCCCGAGGACGTTGGCTTTGCATCTGGTTTTTCTGCATCTGGTACCGCTGCTTCAGCCCGATTGTTTTCGCCACTCCATTCTGGAACAAGGTTTGATATGCACAAAAGGAGCCCTCTTCTGAGAGCTCCAAGATTTACTCCAAGTGAGGCTCACTCTAGAATATTTGAGTCTGTAACCTTGCCTAGTAATCGAACTTCTGCTGGAACATCTTCTTCAGGAGTATCCAATAGAAAAAGGAAAAGAAAAGTGTTTAGTCCTATTCGATCTGAACCAAGATCTCCTTCTCACTCCATGAGGACAAGAAGTGGAAGGCTTAGTAGTTCTGAGCTCTCACCTCTCACCCCCCGTCTTCTGTCTCTTCCTCGTTAAGCATTTCTGTTAGTCCTCTTGCCACTAGTGCCTTAAACCCAACTTTTACTTTTCCTTCTCATTCCCTGACTCAGTCTGGGGAATCTGCAGAGAAAAATCAGAGACCAAGGAAGCAGACTAGTGCTCCGGCAGAGCCATTTTCATCAAGTAGTCCTACTCCTCTCTTCCCTTGGTTTACCCCAGGCTCTCAGACTGAAAGAGGGAGAAATAAAGACAAGGCCCCCGAGGAGCTGTCCAAAGATCGAGATGCTGACAAGAGCGTGGAGAAGGACAAGAGTAGAGAGAGAGACCGGGAGAGAGAAAAGGAGAATAAGCGGGAGTCAAGGAAAGAGAAAAGGAAAAAGGGATCAGAAATTCAGAGTAGTTCTGCTTTGTATCCTGTGGGTAGGGTTTCCAAAGAGAAGGTTGTTGGTGAAGATGTTGCCACTTCATCTTCTGCCAAAAAAGCAACAGGGCGGAAGAAGTCTTCATCACATGATTCTGGGACTGATATTACTTCTGTGACTCTTGGGGATACAACAGCTGTCAAAACCAAAATACTTATAAAGAAAGGGAGAGGAAATCTGGAAAAAACCAACTTGGACCTCGGCCCAACTGCCCCATCCCTGGAGAAGGAGAAAACCCTCTGCCTTTCCACTCCTTCATCTAGCACTGTTAAACATTCCACTTCCTCCATAGGCTCCATGTTGGCTCAGGCAGACAAGCTTCCAATGACTGACAAGAGGGTTGCCAGCCTCCTAAAAAAGGCCAAAGCTCAGCTCTGCAAGATTGAGAAGAGTAAGAGTCTTAAACAAACCGACCAGCCCAAAGCACAGGTACTCTTTTCCACCTTGCCTATTAAAACTAACAGTTTATTGAGCCCTTTCTATGGGCAAGTTTTAGGCTAAGTGGTTCAATTACATCCAGTTATGAGAACCAAGAAAAGTATGGTGGAGGCAGTGGTATTTGCAGTAGTCCTTCAAGGACCAGTAGGATTTTGATAGGTAGAAAGTGGCAGGACATAACATTCTAAGTAGAGGGAACAGTGTGGGTAGAAATGGAAAAGTAAGAAATATATTTGAGGAATACTGGATAGCTGGATTGGCATCTGTGGAAAACTGGTGAACTAAGGCTGAATGAACTAAGGTTGGGACTATATCACAGAGGATGCTGAGTTGTTTGTACCTTATAAGTTTGATGTAATTAAACCAGGGACTTAATTGTAAAGGTACATTTTAATAGTCAAATTGTTTTACTATCCCCGATAGAATAGAAAACCGGAGGGGAGCATTCTCTTCCTCTGAGTAGTGAGGGATTGGAGCAATAGATAATATGTTTTTGCAGAATACAAATGAGAAGTACTGGCCAGGTGCGATGGCTCATGCCTGTAATCCCATCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCTGGCCAACACGGTGAAACCTCATCTCTACTAAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGATGCATGCCTCTAGTCCCAGCTACTGGGGAGATTGAGGCACAAGAATCTCTTGAACCCCGGAGGTAGAGATGGCAGTGAGCTGAGATCCCGCCACTGCACTCCAGCCTGGGCCAATAGAGTAAGTCTCTATCTCAAAATAAATAAATAAATAAATAAACAAACAGATTAGAAGCACTTAGCCTTGAGCCATGGAACAGGAAAGCTATAGAATTCAGTTAGTTAAGATGATGCCAAATATTTTTACAAAGACCAGCATTTTTGTTTTTTTTTTATTGTTTTGTTTATTTGTTTAACAAAGTAAGCTAGTCACTGGCCTTTTCTGAGAAAAGTTGCTGATCTTTAGGGTTTTAAAAAAATCGTCATGTAGTAGATGCCTATTTATGGCAGCAAATCAGGTTAGGTTAAGATGGCCATAAACTTATATTTGTAATGTTATTCACGGGCTGGGTACGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGAN | pathogenic | 188,558 |
Variant at chromosome position 118473505, chromosome 11, gene KMT2A (lysine methyltransferase 2A): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Wiedemann-Steiner_syndrome'] | CTTTCAGGTGGAATGTTATTTGCTGACTTCTTTGAGGCAAATTTTGGGTGAAAAGAAACTAAGCACAATTAAGATGTTTGATTGACTCATTAGACTCAAGTTGAACTCAGTACAAAATGGCCAGTGCTAAGTTATATTCAGCTTAGTTAAAACCTAAACTACACAGCTAAATATATGCTCTTCATTGTTTAATTTCTATACACAGTTAAAACTAGTCCTCGAAAACCTCGTGGGAGACCTAGAAGTGGCTCTGACCGAAATTCAGCTATCCTCTCAGATCCATCTGTGTTTTCCCCTCTAAATAAATCAGAGACCAAATCTGGAGATAAGATCAAGAAGAAAGATTCTAAAAGTATAGAAAAGAAGAGAGGAAGACCTCCCACCTTCCCTGGAGTAAAAATCAAAATAACACATGGAAAGGACATTTCAGAGTTACCAAAGGGAAACAAAGAAGATAGCCTGAAAAAAATTAAAAGGACACCTTCTGCTACGTTTCAGCAAGCCACAAAGATTAAAAAATTAAGAGCAGGTAAACTCTCTCCTCTCAAGTCTAAGTTTAAGACAGGGAAGCTTCAAATAGGAAGGAAGGGGGTACAAATTGTACGACGGAGAGGAAGGCCTCCATCAACAGAAAGGATAAAGACCCCTTCGGGTCTCCTCATTAATTCTGAACTGGAAAAGCCCCAGAAAGTCCGGAAAGACAAGGAAGGAACACCTCCACTTACAAAAGAAGATAAGACAGTTGTCAGACAAAGCCCTCGAAGGATTAAGCCAGTTAGGATTATTCCTTCTTCAAAAAGGACAGATGCAACCATTGCTAAGCAACTCTTACAGAGGGCAAAAAAGGGGGCTCAAAAGAAAATTGAAAAAGAAGCAGCTCAGCTGCAGGGAAGAAAGGTGAAGACACAGGTCAAAAATATTCGACAGTTCATCATGCCTGTTGTCAGTGCTATCTCCTCGCGGATCATTAAGACCCCTCGGCGGTTTATAGAGGATGAGGATTATGACCCTCCAATTAAAATTGCCCGATTAGAGTCTACACCGAATAGTAGATTCAGTGCCCCGTCCTGTGGATCTTCTGAAAAATCAAGTGCAGCTTCTCAGCACTCCTCTCAAATGTCTTCAGACTCCTCTCGATCTAGTAGCCCCAGTGTTGATACCTCCACAGACTCTCAGGCTTCTGAGGAGATTCAGGTACTTCCTGAGGAGCGGAGCGATACCCCTGAAGTTCATCCTCCACTGCCCATTTCCCAGTCCCCAGAAAATGAGAGTAATGATAGGAGAAGCAGAAGGTATTCAGTGTCGGAGAGAAGTTTTGGATCTAGAACGACGAAAAAATTATCAACTCTACAAAGTGCCCCCCAGCAGCAGACCTCCTCGTCTCCACCTCCACCTCTGCTGACTCCACCGCCACCACTGCAGCCAGCCTCCAGTATCTCTGACCACACACCTTGGCTTATGCCTCCAACAATCCCCTTAGCATCACCATTTTTGCCTGCTTCCACTGCTCCTATGCAAGGGAAGCGAAAATCTATTTTGCGAGAACCGACATTTAGGTGGACTTCTTTAAAGCATTCTAGGTCAGAGCCACAATACTTTTCCTCAGCAAAGTATGCCAAAGAAGGTCTTATTCGCAAACCAATATTTGATAATTTCCGACCCCCTCCACTAACTCCCGAGGACGTTGGCTTTGCATCTGGTTTTTCTGCATCTGGTACCGCTGCTTCAGCCCGATTGTTTTCGCCACTCCATTCTGGAACAAGGTTTGATATGCACAAAAGGAGCCCTCTTCTGAGAGCTCCAAGATTTACTCCAAGTGAGGCTCACTCTAGAATATTTGAGTCTGTAACCTTGCCTAGTAATCGAACTTCTGCTGGAACATCTTCTTCAGGAGTATCCAATAGAAAAAGGAAAAGAAAAGTGTTTAGTCCTATTCGATCTGAACCAAGATCTCCTTCTCACTCCATGAGGACAAGAAGTGGAAGGCTTAGTAGTTCTGAGCTCTCACCTCTCACCCCCCCGTCTTCTGTCTCTTCCTCGTTAAGCATTTCTGTTAGTCCTCTTGCCACTAGTGCCTTAAACCCAACTTTTACTTTTCCTTCTCATTCCCTGACTCAGTCTGGGGAATCTGCAGAGAAAAATCAGAGACCAAGGAAGCAGACTAGTGCTCCGGCAGAGCCATTTTCATCAAGTAGTCCTACTCCTCTCTTCCCTTGGTTTACCCCAGGCTCTCAGACTGAAAGAGGGAGAAATAAAGACAAGGCCCCCGAGGAGCTGTCCAAAGATCGAGATGCTGACAAGAGCGTGGAGAAGGACAAGAGTAGAGAGAGAGACCGGGAGAGAGAAAAGGAGAATAAGCGGGAGTCAAGGAAAGAGAAAAGGAAAAAGGGATCAGAAATTCAGAGTAGTTCTGCTTTGTATCCTGTGGGTAGGGTTTCCAAAGAGAAGGTTGTTGGTGAAGATGTTGCCACTTCATCTTCTGCCAAAAAAGCAACAGGGCGGAAGAAGTCTTCATCACATGATTCTGGGACTGATATTACTTCTGTGACTCTTGGGGATACAACAGCTGTCAAAACCAAAATACTTATAAAGAAAGGGAGAGGAAATCTGGAAAAAACCAACTTGGACCTCGGCCCAACTGCCCCATCCCTGGAGAAGGAGAAAACCCTCTGCCTTTCCACTCCTTCATCTAGCACTGTTAAACATTCCACTTCCTCCATAGGCTCCATGTTGGCTCAGGCAGACAAGCTTCCAATGACTGACAAGAGGGTTGCCAGCCTCCTAAAAAAGGCCAAAGCTCAGCTCTGCAAGATTGAGAAGAGTAAGAGTCTTAAACAAACCGACCAGCCCAAAGCACAGGTACTCTTTTCCACCTTGCCTATTAAAACTAACAGTTTATTGAGCCCTTTCTATGGGCAAGTTTTAGGCTAAGTGGTTCAATTACATCCAGTTATGAGAACCAAGAAAAGTATGGTGGAGGCAGTGGTATTTGCAGTAGTCCTTCAAGGACCAGTAGGATTTTGATAGGTAGAAAGTGGCAGGACATAACATTCTAAGTAGAGGGAACAGTGTGGGTAGAAATGGAAAAGTAAGAAATATATTTGAGGAATACTGGATAGCTGGATTGGCATCTGTGGAAAACTGGTGAACTAAGGCTGAATGAACTAAGGTTGGGACTATATCACAGAGGATGCTGAGTTGTTTGTACCTTATAAGTTTGATGTAATTAAACCAGGGACTTAATTGTAAAGGTACATTTTAATAGTCAAATTGTTTTACTATCCCCGATAGAATAGAAAACCGGAGGGGAGCATTCTCTTCCTCTGAGTAGTGAGGGATTGGAGCAATAGATAATATGTTTTTGCAGAATACAAATGAGAAGTACTGGCCAGGTGCGATGGCTCATGCCTGTAATCCCATCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCTGGCCAACACGGTGAAACCTCATCTCTACTAAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGATGCATGCCTCTAGTCCCAGCTACTGGGGAGATTGAGGCACAAGAATCTCTTGAACCCCGGAGGTAGAGATGGCAGTGAGCTGAGATCCCGCCACTGCACTCCAGCCTGGGCCAATAGAGTAAGTCTCTATCTCAAAATAAATAAATAAATAAATAAACAAACAGATTAGAAGCACTTAGCCTTGAGCCATGGAACAGGAAAGCTATAGAATTCAGTTAGTTAAGATGATGCCAAATATTTTTACAAAGACCAGCATTTTTGTTTTTTTTTTATTGTTTTGTTTATTTGTTTAACAAAGTAAGCTAGTCACTGGCCTTTTCTGAGAAAAGTTGCTGATCTTTAGGGTTTTAAAAAAATCGTCATGTAGTAGATGCCTATTTATGGCAGCAAATCAGGTTAGGTTAAGATGGCCATAAACTTATATTTGTAATGTTATTCACGGGCTGGGTACGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGT | CTTTCAGGTGGAATGTTATTTGCTGACTTCTTTGAGGCAAATTTTGGGTGAAAAGAAACTAAGCACAATTAAGATGTTTGATTGACTCATTAGACTCAAGTTGAACTCAGTACAAAATGGCCAGTGCTAAGTTATATTCAGCTTAGTTAAAACCTAAACTACACAGCTAAATATATGCTCTTCATTGTTTAATTTCTATACACAGTTAAAACTAGTCCTCGAAAACCTCGTGGGAGACCTAGAAGTGGCTCTGACCGAAATTCAGCTATCCTCTCAGATCCATCTGTGTTTTCCCCTCTAAATAAATCAGAGACCAAATCTGGAGATAAGATCAAGAAGAAAGATTCTAAAAGTATAGAAAAGAAGAGAGGAAGACCTCCCACCTTCCCTGGAGTAAAAATCAAAATAACACATGGAAAGGACATTTCAGAGTTACCAAAGGGAAACAAAGAAGATAGCCTGAAAAAAATTAAAAGGACACCTTCTGCTACGTTTCAGCAAGCCACAAAGATTAAAAAATTAAGAGCAGGTAAACTCTCTCCTCTCAAGTCTAAGTTTAAGACAGGGAAGCTTCAAATAGGAAGGAAGGGGGTACAAATTGTACGACGGAGAGGAAGGCCTCCATCAACAGAAAGGATAAAGACCCCTTCGGGTCTCCTCATTAATTCTGAACTGGAAAAGCCCCAGAAAGTCCGGAAAGACAAGGAAGGAACACCTCCACTTACAAAAGAAGATAAGACAGTTGTCAGACAAAGCCCTCGAAGGATTAAGCCAGTTAGGATTATTCCTTCTTCAAAAAGGACAGATGCAACCATTGCTAAGCAACTCTTACAGAGGGCAAAAAAGGGGGCTCAAAAGAAAATTGAAAAAGAAGCAGCTCAGCTGCAGGGAAGAAAGGTGAAGACACAGGTCAAAAATATTCGACAGTTCATCATGCCTGTTGTCAGTGCTATCTCCTCGCGGATCATTAAGACCCCTCGGCGGTTTATAGAGGATGAGGATTATGACCCTCCAATTAAAATTGCCCGATTAGAGTCTACACCGAATAGTAGATTCAGTGCCCCGTCCTGTGGATCTTCTGAAAAATCAAGTGCAGCTTCTCAGCACTCCTCTCAAATGTCTTCAGACTCCTCTCGATCTAGTAGCCCCAGTGTTGATACCTCCACAGACTCTCAGGCTTCTGAGGAGATTCAGGTACTTCCTGAGGAGCGGAGCGATACCCCTGAAGTTCATCCTCCACTGCCCATTTCCCAGTCCCCAGAAAATGAGAGTAATGATAGGAGAAGCAGAAGGTATTCAGTGTCGGAGAGAAGTTTTGGATCTAGAACGACGAAAAAATTATCAACTCTACAAAGTGCCCCCCAGCAGCAGACCTCCTCGTCTCCACCTCCACCTCTGCTGACTCCACCGCCACCACTGCAGCCAGCCTCCAGTATCTCTGACCACACACCTTGGCTTATGCCTCCAACAATCCCCTTAGCATCACCATTTTTGCCTGCTTCCACTGCTCCTATGCAAGGGAAGCGAAAATCTATTTTGCGAGAACCGACATTTAGGTGGACTTCTTTAAAGCATTCTAGGTCAGAGCCACAATACTTTTCCTCAGCAAAGTATGCCAAAGAAGGTCTTATTCGCAAACCAATATTTGATAATTTCCGACCCCCTCCACTAACTCCCGAGGACGTTGGCTTTGCATCTGGTTTTTCTGCATCTGGTACCGCTGCTTCAGCCCGATTGTTTTCGCCACTCCATTCTGGAACAAGGTTTGATATGCACAAAAGGAGCCCTCTTCTGAGAGCTCCAAGATTTACTCCAAGTGAGGCTCACTCTAGAATATTTGAGTCTGTAACCTTGCCTAGTAATCGAACTTCTGCTGGAACATCTTCTTCAGGAGTATCCAATAGAAAAAGGAAAAGAAAAGTGTTTAGTCCTATTCGATCTGAACCAAGATCTCCTTCTCACTCCATGAGGACAAGAAGTGGAAGGCTTAGTAGTTCTGAGCTCTCACCTCTCACCCCCCCGTCTTCTGTCTCTTCCTCGTTAAGCATTTGTTAGTCCTCTTGCCACTAGTGCCTTAAACCCAACTTTTACTTTTCCTTCTCATTCCCTGACTCAGTCTGGGGAATCTGCAGAGAAAAATCAGAGACCAAGGAAGCAGACTAGTGCTCCGGCAGAGCCATTTTCATCAAGTAGTCCTACTCCTCTCTTCCCTTGGTTTACCCCAGGCTCTCAGACTGAAAGAGGGAGAAATAAAGACAAGGCCCCCGAGGAGCTGTCCAAAGATCGAGATGCTGACAAGAGCGTGGAGAAGGACAAGAGTAGAGAGAGAGACCGGGAGAGAGAAAAGGAGAATAAGCGGGAGTCAAGGAAAGAGAAAAGGAAAAAGGGATCAGAAATTCAGAGTAGTTCTGCTTTGTATCCTGTGGGTAGGGTTTCCAAAGAGAAGGTTGTTGGTGAAGATGTTGCCACTTCATCTTCTGCCAAAAAAGCAACAGGGCGGAAGAAGTCTTCATCACATGATTCTGGGACTGATATTACTTCTGTGACTCTTGGGGATACAACAGCTGTCAAAACCAAAATACTTATAAAGAAAGGGAGAGGAAATCTGGAAAAAACCAACTTGGACCTCGGCCCAACTGCCCCATCCCTGGAGAAGGAGAAAACCCTCTGCCTTTCCACTCCTTCATCTAGCACTGTTAAACATTCCACTTCCTCCATAGGCTCCATGTTGGCTCAGGCAGACAAGCTTCCAATGACTGACAAGAGGGTTGCCAGCCTCCTAAAAAAGGCCAAAGCTCAGCTCTGCAAGATTGAGAAGAGTAAGAGTCTTAAACAAACCGACCAGCCCAAAGCACAGGTACTCTTTTCCACCTTGCCTATTAAAACTAACAGTTTATTGAGCCCTTTCTATGGGCAAGTTTTAGGCTAAGTGGTTCAATTACATCCAGTTATGAGAACCAAGAAAAGTATGGTGGAGGCAGTGGTATTTGCAGTAGTCCTTCAAGGACCAGTAGGATTTTGATAGGTAGAAAGTGGCAGGACATAACATTCTAAGTAGAGGGAACAGTGTGGGTAGAAATGGAAAAGTAAGAAATATATTTGAGGAATACTGGATAGCTGGATTGGCATCTGTGGAAAACTGGTGAACTAAGGCTGAATGAACTAAGGTTGGGACTATATCACAGAGGATGCTGAGTTGTTTGTACCTTATAAGTTTGATGTAATTAAACCAGGGACTTAATTGTAAAGGTACATTTTAATAGTCAAATTGTTTTACTATCCCCGATAGAATAGAAAACCGGAGGGGAGCATTCTCTTCCTCTGAGTAGTGAGGGATTGGAGCAATAGATAATATGTTTTTGCAGAATACAAATGAGAAGTACTGGCCAGGTGCGATGGCTCATGCCTGTAATCCCATCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCTGGCCAACACGGTGAAACCTCATCTCTACTAAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGATGCATGCCTCTAGTCCCAGCTACTGGGGAGATTGAGGCACAAGAATCTCTTGAACCCCGGAGGTAGAGATGGCAGTGAGCTGAGATCCCGCCACTGCACTCCAGCCTGGGCCAATAGAGTAAGTCTCTATCTCAAAATAAATAAATAAATAAATAAACAAACAGATTAGAAGCACTTAGCCTTGAGCCATGGAACAGGAAAGCTATAGAATTCAGTTAGTTAAGATGATGCCAAATATTTTTACAAAGACCAGCATTTTTGTTTTTTTTTTATTGTTTTGTTTATTTGTTTAACAAAGTAAGCTAGTCACTGGCCTTTTCTGAGAAAAGTTGCTGATCTTTAGGGTTTTAAAAAAATCGTCATGTAGTAGATGCCTATTTATGGCAGCAAATCAGGTTAGGTTAAGATGGCCATAAACTTATATTTGTAATGTTATTCACGGGCTGGGTACGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTNN | pathogenic | 188,559 |
For chromosome 11, position 118473778, gene KMT2A (lysine methyltransferase 2A): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic | TCAGATCCATCTGTGTTTTCCCCTCTAAATAAATCAGAGACCAAATCTGGAGATAAGATCAAGAAGAAAGATTCTAAAAGTATAGAAAAGAAGAGAGGAAGACCTCCCACCTTCCCTGGAGTAAAAATCAAAATAACACATGGAAAGGACATTTCAGAGTTACCAAAGGGAAACAAAGAAGATAGCCTGAAAAAAATTAAAAGGACACCTTCTGCTACGTTTCAGCAAGCCACAAAGATTAAAAAATTAAGAGCAGGTAAACTCTCTCCTCTCAAGTCTAAGTTTAAGACAGGGAAGCTTCAAATAGGAAGGAAGGGGGTACAAATTGTACGACGGAGAGGAAGGCCTCCATCAACAGAAAGGATAAAGACCCCTTCGGGTCTCCTCATTAATTCTGAACTGGAAAAGCCCCAGAAAGTCCGGAAAGACAAGGAAGGAACACCTCCACTTACAAAAGAAGATAAGACAGTTGTCAGACAAAGCCCTCGAAGGATTAAGCCAGTTAGGATTATTCCTTCTTCAAAAAGGACAGATGCAACCATTGCTAAGCAACTCTTACAGAGGGCAAAAAAGGGGGCTCAAAAGAAAATTGAAAAAGAAGCAGCTCAGCTGCAGGGAAGAAAGGTGAAGACACAGGTCAAAAATATTCGACAGTTCATCATGCCTGTTGTCAGTGCTATCTCCTCGCGGATCATTAAGACCCCTCGGCGGTTTATAGAGGATGAGGATTATGACCCTCCAATTAAAATTGCCCGATTAGAGTCTACACCGAATAGTAGATTCAGTGCCCCGTCCTGTGGATCTTCTGAAAAATCAAGTGCAGCTTCTCAGCACTCCTCTCAAATGTCTTCAGACTCCTCTCGATCTAGTAGCCCCAGTGTTGATACCTCCACAGACTCTCAGGCTTCTGAGGAGATTCAGGTACTTCCTGAGGAGCGGAGCGATACCCCTGAAGTTCATCCTCCACTGCCCATTTCCCAGTCCCCAGAAAATGAGAGTAATGATAGGAGAAGCAGAAGGTATTCAGTGTCGGAGAGAAGTTTTGGATCTAGAACGACGAAAAAATTATCAACTCTACAAAGTGCCCCCCAGCAGCAGACCTCCTCGTCTCCACCTCCACCTCTGCTGACTCCACCGCCACCACTGCAGCCAGCCTCCAGTATCTCTGACCACACACCTTGGCTTATGCCTCCAACAATCCCCTTAGCATCACCATTTTTGCCTGCTTCCACTGCTCCTATGCAAGGGAAGCGAAAATCTATTTTGCGAGAACCGACATTTAGGTGGACTTCTTTAAAGCATTCTAGGTCAGAGCCACAATACTTTTCCTCAGCAAAGTATGCCAAAGAAGGTCTTATTCGCAAACCAATATTTGATAATTTCCGACCCCCTCCACTAACTCCCGAGGACGTTGGCTTTGCATCTGGTTTTTCTGCATCTGGTACCGCTGCTTCAGCCCGATTGTTTTCGCCACTCCATTCTGGAACAAGGTTTGATATGCACAAAAGGAGCCCTCTTCTGAGAGCTCCAAGATTTACTCCAAGTGAGGCTCACTCTAGAATATTTGAGTCTGTAACCTTGCCTAGTAATCGAACTTCTGCTGGAACATCTTCTTCAGGAGTATCCAATAGAAAAAGGAAAAGAAAAGTGTTTAGTCCTATTCGATCTGAACCAAGATCTCCTTCTCACTCCATGAGGACAAGAAGTGGAAGGCTTAGTAGTTCTGAGCTCTCACCTCTCACCCCCCCGTCTTCTGTCTCTTCCTCGTTAAGCATTTCTGTTAGTCCTCTTGCCACTAGTGCCTTAAACCCAACTTTTACTTTTCCTTCTCATTCCCTGACTCAGTCTGGGGAATCTGCAGAGAAAAATCAGAGACCAAGGAAGCAGACTAGTGCTCCGGCAGAGCCATTTTCATCAAGTAGTCCTACTCCTCTCTTCCCTTGGTTTACCCCAGGCTCTCAGACTGAAAGAGGGAGAAATAAAGACAAGGCCCCCGAGGAGCTGTCCAAAGATCGAGATGCTGACAAGAGCGTGGAGAAGGACAAGAGTAGAGAGAGAGACCGGGAGAGAGAAAAGGAGAATAAGCGGGAGTCAAGGAAAGAGAAAAGGAAAAAGGGATCAGAAATTCAGAGTAGTTCTGCTTTGTATCCTGTGGGTAGGGTTTCCAAAGAGAAGGTTGTTGGTGAAGATGTTGCCACTTCATCTTCTGCCAAAAAAGCAACAGGGCGGAAGAAGTCTTCATCACATGATTCTGGGACTGATATTACTTCTGTGACTCTTGGGGATACAACAGCTGTCAAAACCAAAATACTTATAAAGAAAGGGAGAGGAAATCTGGAAAAAACCAACTTGGACCTCGGCCCAACTGCCCCATCCCTGGAGAAGGAGAAAACCCTCTGCCTTTCCACTCCTTCATCTAGCACTGTTAAACATTCCACTTCCTCCATAGGCTCCATGTTGGCTCAGGCAGACAAGCTTCCAATGACTGACAAGAGGGTTGCCAGCCTCCTAAAAAAGGCCAAAGCTCAGCTCTGCAAGATTGAGAAGAGTAAGAGTCTTAAACAAACCGACCAGCCCAAAGCACAGGTACTCTTTTCCACCTTGCCTATTAAAACTAACAGTTTATTGAGCCCTTTCTATGGGCAAGTTTTAGGCTAAGTGGTTCAATTACATCCAGTTATGAGAACCAAGAAAAGTATGGTGGAGGCAGTGGTATTTGCAGTAGTCCTTCAAGGACCAGTAGGATTTTGATAGGTAGAAAGTGGCAGGACATAACATTCTAAGTAGAGGGAACAGTGTGGGTAGAAATGGAAAAGTAAGAAATATATTTGAGGAATACTGGATAGCTGGATTGGCATCTGTGGAAAACTGGTGAACTAAGGCTGAATGAACTAAGGTTGGGACTATATCACAGAGGATGCTGAGTTGTTTGTACCTTATAAGTTTGATGTAATTAAACCAGGGACTTAATTGTAAAGGTACATTTTAATAGTCAAATTGTTTTACTATCCCCGATAGAATAGAAAACCGGAGGGGAGCATTCTCTTCCTCTGAGTAGTGAGGGATTGGAGCAATAGATAATATGTTTTTGCAGAATACAAATGAGAAGTACTGGCCAGGTGCGATGGCTCATGCCTGTAATCCCATCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCTGGCCAACACGGTGAAACCTCATCTCTACTAAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGATGCATGCCTCTAGTCCCAGCTACTGGGGAGATTGAGGCACAAGAATCTCTTGAACCCCGGAGGTAGAGATGGCAGTGAGCTGAGATCCCGCCACTGCACTCCAGCCTGGGCCAATAGAGTAAGTCTCTATCTCAAAATAAATAAATAAATAAATAAACAAACAGATTAGAAGCACTTAGCCTTGAGCCATGGAACAGGAAAGCTATAGAATTCAGTTAGTTAAGATGATGCCAAATATTTTTACAAAGACCAGCATTTTTGTTTTTTTTTTATTGTTTTGTTTATTTGTTTAACAAAGTAAGCTAGTCACTGGCCTTTTCTGAGAAAAGTTGCTGATCTTTAGGGTTTTAAAAAAATCGTCATGTAGTAGATGCCTATTTATGGCAGCAAATCAGGTTAGGTTAAGATGGCCATAAACTTATATTTGTAATGTTATTCACGGGCTGGGTACGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATCCAAAAAATTAGCCAGACATGGTGGCATGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGGCACTACACTCCAGCCTGGGTGACAGGGCGAGACTCCGTCTCTAAAAAAATAAATAAATAAAATTAATGTTATTCAACCTAGGGCCATAGTTACATTTACTAATTCTGCCAGTTGAGAATTGTAGCAGGAATGTGATGGGACTTA | TCAGATCCATCTGTGTTTTCCCCTCTAAATAAATCAGAGACCAAATCTGGAGATAAGATCAAGAAGAAAGATTCTAAAAGTATAGAAAAGAAGAGAGGAAGACCTCCCACCTTCCCTGGAGTAAAAATCAAAATAACACATGGAAAGGACATTTCAGAGTTACCAAAGGGAAACAAAGAAGATAGCCTGAAAAAAATTAAAAGGACACCTTCTGCTACGTTTCAGCAAGCCACAAAGATTAAAAAATTAAGAGCAGGTAAACTCTCTCCTCTCAAGTCTAAGTTTAAGACAGGGAAGCTTCAAATAGGAAGGAAGGGGGTACAAATTGTACGACGGAGAGGAAGGCCTCCATCAACAGAAAGGATAAAGACCCCTTCGGGTCTCCTCATTAATTCTGAACTGGAAAAGCCCCAGAAAGTCCGGAAAGACAAGGAAGGAACACCTCCACTTACAAAAGAAGATAAGACAGTTGTCAGACAAAGCCCTCGAAGGATTAAGCCAGTTAGGATTATTCCTTCTTCAAAAAGGACAGATGCAACCATTGCTAAGCAACTCTTACAGAGGGCAAAAAAGGGGGCTCAAAAGAAAATTGAAAAAGAAGCAGCTCAGCTGCAGGGAAGAAAGGTGAAGACACAGGTCAAAAATATTCGACAGTTCATCATGCCTGTTGTCAGTGCTATCTCCTCGCGGATCATTAAGACCCCTCGGCGGTTTATAGAGGATGAGGATTATGACCCTCCAATTAAAATTGCCCGATTAGAGTCTACACCGAATAGTAGATTCAGTGCCCCGTCCTGTGGATCTTCTGAAAAATCAAGTGCAGCTTCTCAGCACTCCTCTCAAATGTCTTCAGACTCCTCTCGATCTAGTAGCCCCAGTGTTGATACCTCCACAGACTCTCAGGCTTCTGAGGAGATTCAGGTACTTCCTGAGGAGCGGAGCGATACCCCTGAAGTTCATCCTCCACTGCCCATTTCCCAGTCCCCAGAAAATGAGAGTAATGATAGGAGAAGCAGAAGGTATTCAGTGTCGGAGAGAAGTTTTGGATCTAGAACGACGAAAAAATTATCAACTCTACAAAGTGCCCCCCAGCAGCAGACCTCCTCGTCTCCACCTCCACCTCTGCTGACTCCACCGCCACCACTGCAGCCAGCCTCCAGTATCTCTGACCACACACCTTGGCTTATGCCTCCAACAATCCCCTTAGCATCACCATTTTTGCCTGCTTCCACTGCTCCTATGCAAGGGAAGCGAAAATCTATTTTGCGAGAACCGACATTTAGGTGGACTTCTTTAAAGCATTCTAGGTCAGAGCCACAATACTTTTCCTCAGCAAAGTATGCCAAAGAAGGTCTTATTCGCAAACCAATATTTGATAATTTCCGACCCCCTCCACTAACTCCCGAGGACGTTGGCTTTGCATCTGGTTTTTCTGCATCTGGTACCGCTGCTTCAGCCCGATTGTTTTCGCCACTCCATTCTGGAACAAGGTTTGATATGCACAAAAGGAGCCCTCTTCTGAGAGCTCCAAGATTTACTCCAAGTGAGGCTCACTCTAGAATATTTGAGTCTGTAACCTTGCCTAGTAATCGAACTTCTGCTGGAACATCTTCTTCAGGAGTATCCAATAGAAAAAGGAAAAGAAAAGTGTTTAGTCCTATTCGATCTGAACCAAGATCTCCTTCTCACTCCATGAGGACAAGAAGTGGAAGGCTTAGTAGTTCTGAGCTCTCACCTCTCACCCCCCCGTCTTCTGTCTCTTCCTCGTTAAGCATTTCTGTTAGTCCTCTTGCCACTAGTGCCTTAAACCCAACTTTTACTTTTCCTTCTCATTCCCTGACTCAGTCTGGGGAATCTGCAGAGAAAAATCAGAGACCAAGGAAGCAGACTAGTGCTCCGGCAGAGCCATTTTCATCAAGTAGTCCTACTCCTCTCTTCCCTTGGTTTACCCCAGGCTCTCAGACTGAAAGAGGGAGAAATAAAGACAAGGCCCCCGAGGAGCTGTCCAAAGATCGAGATGCTGACAAGAGCGTGGAGAAGGACAAGAGTAGAGAGAGACCGGGAGAGAGAAAAGGAGAATAAGCGGGAGTCAAGGAAAGAGAAAAGGAAAAAGGGATCAGAAATTCAGAGTAGTTCTGCTTTGTATCCTGTGGGTAGGGTTTCCAAAGAGAAGGTTGTTGGTGAAGATGTTGCCACTTCATCTTCTGCCAAAAAAGCAACAGGGCGGAAGAAGTCTTCATCACATGATTCTGGGACTGATATTACTTCTGTGACTCTTGGGGATACAACAGCTGTCAAAACCAAAATACTTATAAAGAAAGGGAGAGGAAATCTGGAAAAAACCAACTTGGACCTCGGCCCAACTGCCCCATCCCTGGAGAAGGAGAAAACCCTCTGCCTTTCCACTCCTTCATCTAGCACTGTTAAACATTCCACTTCCTCCATAGGCTCCATGTTGGCTCAGGCAGACAAGCTTCCAATGACTGACAAGAGGGTTGCCAGCCTCCTAAAAAAGGCCAAAGCTCAGCTCTGCAAGATTGAGAAGAGTAAGAGTCTTAAACAAACCGACCAGCCCAAAGCACAGGTACTCTTTTCCACCTTGCCTATTAAAACTAACAGTTTATTGAGCCCTTTCTATGGGCAAGTTTTAGGCTAAGTGGTTCAATTACATCCAGTTATGAGAACCAAGAAAAGTATGGTGGAGGCAGTGGTATTTGCAGTAGTCCTTCAAGGACCAGTAGGATTTTGATAGGTAGAAAGTGGCAGGACATAACATTCTAAGTAGAGGGAACAGTGTGGGTAGAAATGGAAAAGTAAGAAATATATTTGAGGAATACTGGATAGCTGGATTGGCATCTGTGGAAAACTGGTGAACTAAGGCTGAATGAACTAAGGTTGGGACTATATCACAGAGGATGCTGAGTTGTTTGTACCTTATAAGTTTGATGTAATTAAACCAGGGACTTAATTGTAAAGGTACATTTTAATAGTCAAATTGTTTTACTATCCCCGATAGAATAGAAAACCGGAGGGGAGCATTCTCTTCCTCTGAGTAGTGAGGGATTGGAGCAATAGATAATATGTTTTTGCAGAATACAAATGAGAAGTACTGGCCAGGTGCGATGGCTCATGCCTGTAATCCCATCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCTGGCCAACACGGTGAAACCTCATCTCTACTAAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGATGCATGCCTCTAGTCCCAGCTACTGGGGAGATTGAGGCACAAGAATCTCTTGAACCCCGGAGGTAGAGATGGCAGTGAGCTGAGATCCCGCCACTGCACTCCAGCCTGGGCCAATAGAGTAAGTCTCTATCTCAAAATAAATAAATAAATAAATAAACAAACAGATTAGAAGCACTTAGCCTTGAGCCATGGAACAGGAAAGCTATAGAATTCAGTTAGTTAAGATGATGCCAAATATTTTTACAAAGACCAGCATTTTTGTTTTTTTTTTATTGTTTTGTTTATTTGTTTAACAAAGTAAGCTAGTCACTGGCCTTTTCTGAGAAAAGTTGCTGATCTTTAGGGTTTTAAAAAAATCGTCATGTAGTAGATGCCTATTTATGGCAGCAAATCAGGTTAGGTTAAGATGGCCATAAACTTATATTTGTAATGTTATTCACGGGCTGGGTACGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATCCAAAAAATTAGCCAGACATGGTGGCATGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGGCACTACACTCCAGCCTGGGTGACAGGGCGAGACTCCGTCTCTAAAAAAATAAATAAATAAAATTAATGTTATTCAACCTAGGGCCATAGTTACATTTACTAATTCTGCCAGTTGAGAATTGTAGCAGGAATGTGATGGGACTTANN | pathogenic | 188,563 |
Does the variant impacting KMT2A (lysine methyltransferase 2A) on chromosome 11, position 118474228, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Wiedemann-Steiner_syndrome'] | ACAAAAGAAGATAAGACAGTTGTCAGACAAAGCCCTCGAAGGATTAAGCCAGTTAGGATTATTCCTTCTTCAAAAAGGACAGATGCAACCATTGCTAAGCAACTCTTACAGAGGGCAAAAAAGGGGGCTCAAAAGAAAATTGAAAAAGAAGCAGCTCAGCTGCAGGGAAGAAAGGTGAAGACACAGGTCAAAAATATTCGACAGTTCATCATGCCTGTTGTCAGTGCTATCTCCTCGCGGATCATTAAGACCCCTCGGCGGTTTATAGAGGATGAGGATTATGACCCTCCAATTAAAATTGCCCGATTAGAGTCTACACCGAATAGTAGATTCAGTGCCCCGTCCTGTGGATCTTCTGAAAAATCAAGTGCAGCTTCTCAGCACTCCTCTCAAATGTCTTCAGACTCCTCTCGATCTAGTAGCCCCAGTGTTGATACCTCCACAGACTCTCAGGCTTCTGAGGAGATTCAGGTACTTCCTGAGGAGCGGAGCGATACCCCTGAAGTTCATCCTCCACTGCCCATTTCCCAGTCCCCAGAAAATGAGAGTAATGATAGGAGAAGCAGAAGGTATTCAGTGTCGGAGAGAAGTTTTGGATCTAGAACGACGAAAAAATTATCAACTCTACAAAGTGCCCCCCAGCAGCAGACCTCCTCGTCTCCACCTCCACCTCTGCTGACTCCACCGCCACCACTGCAGCCAGCCTCCAGTATCTCTGACCACACACCTTGGCTTATGCCTCCAACAATCCCCTTAGCATCACCATTTTTGCCTGCTTCCACTGCTCCTATGCAAGGGAAGCGAAAATCTATTTTGCGAGAACCGACATTTAGGTGGACTTCTTTAAAGCATTCTAGGTCAGAGCCACAATACTTTTCCTCAGCAAAGTATGCCAAAGAAGGTCTTATTCGCAAACCAATATTTGATAATTTCCGACCCCCTCCACTAACTCCCGAGGACGTTGGCTTTGCATCTGGTTTTTCTGCATCTGGTACCGCTGCTTCAGCCCGATTGTTTTCGCCACTCCATTCTGGAACAAGGTTTGATATGCACAAAAGGAGCCCTCTTCTGAGAGCTCCAAGATTTACTCCAAGTGAGGCTCACTCTAGAATATTTGAGTCTGTAACCTTGCCTAGTAATCGAACTTCTGCTGGAACATCTTCTTCAGGAGTATCCAATAGAAAAAGGAAAAGAAAAGTGTTTAGTCCTATTCGATCTGAACCAAGATCTCCTTCTCACTCCATGAGGACAAGAAGTGGAAGGCTTAGTAGTTCTGAGCTCTCACCTCTCACCCCCCCGTCTTCTGTCTCTTCCTCGTTAAGCATTTCTGTTAGTCCTCTTGCCACTAGTGCCTTAAACCCAACTTTTACTTTTCCTTCTCATTCCCTGACTCAGTCTGGGGAATCTGCAGAGAAAAATCAGAGACCAAGGAAGCAGACTAGTGCTCCGGCAGAGCCATTTTCATCAAGTAGTCCTACTCCTCTCTTCCCTTGGTTTACCCCAGGCTCTCAGACTGAAAGAGGGAGAAATAAAGACAAGGCCCCCGAGGAGCTGTCCAAAGATCGAGATGCTGACAAGAGCGTGGAGAAGGACAAGAGTAGAGAGAGAGACCGGGAGAGAGAAAAGGAGAATAAGCGGGAGTCAAGGAAAGAGAAAAGGAAAAAGGGATCAGAAATTCAGAGTAGTTCTGCTTTGTATCCTGTGGGTAGGGTTTCCAAAGAGAAGGTTGTTGGTGAAGATGTTGCCACTTCATCTTCTGCCAAAAAAGCAACAGGGCGGAAGAAGTCTTCATCACATGATTCTGGGACTGATATTACTTCTGTGACTCTTGGGGATACAACAGCTGTCAAAACCAAAATACTTATAAAGAAAGGGAGAGGAAATCTGGAAAAAACCAACTTGGACCTCGGCCCAACTGCCCCATCCCTGGAGAAGGAGAAAACCCTCTGCCTTTCCACTCCTTCATCTAGCACTGTTAAACATTCCACTTCCTCCATAGGCTCCATGTTGGCTCAGGCAGACAAGCTTCCAATGACTGACAAGAGGGTTGCCAGCCTCCTAAAAAAGGCCAAAGCTCAGCTCTGCAAGATTGAGAAGAGTAAGAGTCTTAAACAAACCGACCAGCCCAAAGCACAGGTACTCTTTTCCACCTTGCCTATTAAAACTAACAGTTTATTGAGCCCTTTCTATGGGCAAGTTTTAGGCTAAGTGGTTCAATTACATCCAGTTATGAGAACCAAGAAAAGTATGGTGGAGGCAGTGGTATTTGCAGTAGTCCTTCAAGGACCAGTAGGATTTTGATAGGTAGAAAGTGGCAGGACATAACATTCTAAGTAGAGGGAACAGTGTGGGTAGAAATGGAAAAGTAAGAAATATATTTGAGGAATACTGGATAGCTGGATTGGCATCTGTGGAAAACTGGTGAACTAAGGCTGAATGAACTAAGGTTGGGACTATATCACAGAGGATGCTGAGTTGTTTGTACCTTATAAGTTTGATGTAATTAAACCAGGGACTTAATTGTAAAGGTACATTTTAATAGTCAAATTGTTTTACTATCCCCGATAGAATAGAAAACCGGAGGGGAGCATTCTCTTCCTCTGAGTAGTGAGGGATTGGAGCAATAGATAATATGTTTTTGCAGAATACAAATGAGAAGTACTGGCCAGGTGCGATGGCTCATGCCTGTAATCCCATCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCTGGCCAACACGGTGAAACCTCATCTCTACTAAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGATGCATGCCTCTAGTCCCAGCTACTGGGGAGATTGAGGCACAAGAATCTCTTGAACCCCGGAGGTAGAGATGGCAGTGAGCTGAGATCCCGCCACTGCACTCCAGCCTGGGCCAATAGAGTAAGTCTCTATCTCAAAATAAATAAATAAATAAATAAACAAACAGATTAGAAGCACTTAGCCTTGAGCCATGGAACAGGAAAGCTATAGAATTCAGTTAGTTAAGATGATGCCAAATATTTTTACAAAGACCAGCATTTTTGTTTTTTTTTTATTGTTTTGTTTATTTGTTTAACAAAGTAAGCTAGTCACTGGCCTTTTCTGAGAAAAGTTGCTGATCTTTAGGGTTTTAAAAAAATCGTCATGTAGTAGATGCCTATTTATGGCAGCAAATCAGGTTAGGTTAAGATGGCCATAAACTTATATTTGTAATGTTATTCACGGGCTGGGTACGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATCCAAAAAATTAGCCAGACATGGTGGCATGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGGCACTACACTCCAGCCTGGGTGACAGGGCGAGACTCCGTCTCTAAAAAAATAAATAAATAAAATTAATGTTATTCAACCTAGGGCCATAGTTACATTTACTAATTCTGCCAGTTGAGAATTGTAGCAGGAATGTGATGGGACTTATTTTTAACACCATGTTGGATGTTTTTGTGATAGGAGCAGCGGCTCTTTAAAATCTGAGACATTTCTTTTGGAGCCTTTTATACTTTCTCTTTTTTTTGAGACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACGTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACGGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGAGTTGCAGGCGTGAGCCACCACCTATACTTTCATTTATAAGTTATTTCACCCCTACTTCTCTGATGATCAAGGAAATATAAGAAATAGTTTTTGGTTAGA | ACAAAAGAAGATAAGACAGTTGTCAGACAAAGCCCTCGAAGGATTAAGCCAGTTAGGATTATTCCTTCTTCAAAAAGGACAGATGCAACCATTGCTAAGCAACTCTTACAGAGGGCAAAAAAGGGGGCTCAAAAGAAAATTGAAAAAGAAGCAGCTCAGCTGCAGGGAAGAAAGGTGAAGACACAGGTCAAAAATATTCGACAGTTCATCATGCCTGTTGTCAGTGCTATCTCCTCGCGGATCATTAAGACCCCTCGGCGGTTTATAGAGGATGAGGATTATGACCCTCCAATTAAAATTGCCCGATTAGAGTCTACACCGAATAGTAGATTCAGTGCCCCGTCCTGTGGATCTTCTGAAAAATCAAGTGCAGCTTCTCAGCACTCCTCTCAAATGTCTTCAGACTCCTCTCGATCTAGTAGCCCCAGTGTTGATACCTCCACAGACTCTCAGGCTTCTGAGGAGATTCAGGTACTTCCTGAGGAGCGGAGCGATACCCCTGAAGTTCATCCTCCACTGCCCATTTCCCAGTCCCCAGAAAATGAGAGTAATGATAGGAGAAGCAGAAGGTATTCAGTGTCGGAGAGAAGTTTTGGATCTAGAACGACGAAAAAATTATCAACTCTACAAAGTGCCCCCCAGCAGCAGACCTCCTCGTCTCCACCTCCACCTCTGCTGACTCCACCGCCACCACTGCAGCCAGCCTCCAGTATCTCTGACCACACACCTTGGCTTATGCCTCCAACAATCCCCTTAGCATCACCATTTTTGCCTGCTTCCACTGCTCCTATGCAAGGGAAGCGAAAATCTATTTTGCGAGAACCGACATTTAGGTGGACTTCTTTAAAGCATTCTAGGTCAGAGCCACAATACTTTTCCTCAGCAAAGTATGCCAAAGAAGGTCTTATTCGCAAACCAATATTTGATAATTTCCGACCCCCTCCACTAACTCCCGAGGACGTTGGCTTTGCATCTGGTTTTTCTGCATCTGGTACCGCTGCTTCAGCCCGATTGTTTTCGCCACTCCATTCTGGAACAAGGTTTGATATGCACAAAAGGAGCCCTCTTCTGAGAGCTCCAAGATTTACTCCAAGTGAGGCTCACTCTAGAATATTTGAGTCTGTAACCTTGCCTAGTAATCGAACTTCTGCTGGAACATCTTCTTCAGGAGTATCCAATAGAAAAAGGAAAAGAAAAGTGTTTAGTCCTATTCGATCTGAACCAAGATCTCCTTCTCACTCCATGAGGACAAGAAGTGGAAGGCTTAGTAGTTCTGAGCTCTCACCTCTCACCCCCCCGTCTTCTGTCTCTTCCTCGTTAAGCATTTCTGTTAGTCCTCTTGCCACTAGTGCCTTAAACCCAACTTTTACTTTTCCTTCTCATTCCCTGACTCAGTCTGGGGAATCTGCAGAGAAAAATCAGAGACCAAGGAAGCAGACTAGTGCTCCGGCAGAGCCATTTTCATCAAGTAGTCCTACTCCTCTCTTCCCTTGGTTTACCCCAGGCTCTCAGACTGAAAGAGGGAGAAATAAAGACAAGGCCCCCGAGGAGCTGTCCAAAGATCGAGATGCTGACAAGAGCGTGGAGAAGGACAAGAGTAGAGAGAGAGACCGGGAGAGAGAAAAGGAGAATAAGCGGGAGTCAAGGAAAGAGAAAAGGAAAAAGGGATCAGAAATTCAGAGTAGTTCTGCTTTGTATCCTGTGGGTAGGGTTTCCAAAGAGAAGGTTGTTGGTGAAGATGTTGCCACTTCATCTTCTGCCAAAAAAGCAACAGGGCGGAAGAAGTCTTCATCACATGATTCTGGGACTGATATTACTTCTGTGACTCTTGGGGATACAACAGCTGTCAAAACCAAAATACTTATAAAGAAAGGGAGAGGAAATCTGGAAAAAACCAACTTGGACCTCGGCCCAACTGCCCCATCCCTGGAGAAGGAGAAAACCCTCTGCCTTTCCACTCCTTCATCTAGCACTGTTAAACATTCCACTTCCTCCATAGGCTCCATGTTGGCTCAGGCAGACAAGCTTCCAATGACTGACAAGAGGGTTGGCCAGCCTCCTAAAAAAGGCCAAAGCTCAGCTCTGCAAGATTGAGAAGAGTAAGAGTCTTAAACAAACCGACCAGCCCAAAGCACAGGTACTCTTTTCCACCTTGCCTATTAAAACTAACAGTTTATTGAGCCCTTTCTATGGGCAAGTTTTAGGCTAAGTGGTTCAATTACATCCAGTTATGAGAACCAAGAAAAGTATGGTGGAGGCAGTGGTATTTGCAGTAGTCCTTCAAGGACCAGTAGGATTTTGATAGGTAGAAAGTGGCAGGACATAACATTCTAAGTAGAGGGAACAGTGTGGGTAGAAATGGAAAAGTAAGAAATATATTTGAGGAATACTGGATAGCTGGATTGGCATCTGTGGAAAACTGGTGAACTAAGGCTGAATGAACTAAGGTTGGGACTATATCACAGAGGATGCTGAGTTGTTTGTACCTTATAAGTTTGATGTAATTAAACCAGGGACTTAATTGTAAAGGTACATTTTAATAGTCAAATTGTTTTACTATCCCCGATAGAATAGAAAACCGGAGGGGAGCATTCTCTTCCTCTGAGTAGTGAGGGATTGGAGCAATAGATAATATGTTTTTGCAGAATACAAATGAGAAGTACTGGCCAGGTGCGATGGCTCATGCCTGTAATCCCATCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCTGGCCAACACGGTGAAACCTCATCTCTACTAAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGATGCATGCCTCTAGTCCCAGCTACTGGGGAGATTGAGGCACAAGAATCTCTTGAACCCCGGAGGTAGAGATGGCAGTGAGCTGAGATCCCGCCACTGCACTCCAGCCTGGGCCAATAGAGTAAGTCTCTATCTCAAAATAAATAAATAAATAAATAAACAAACAGATTAGAAGCACTTAGCCTTGAGCCATGGAACAGGAAAGCTATAGAATTCAGTTAGTTAAGATGATGCCAAATATTTTTACAAAGACCAGCATTTTTGTTTTTTTTTTATTGTTTTGTTTATTTGTTTAACAAAGTAAGCTAGTCACTGGCCTTTTCTGAGAAAAGTTGCTGATCTTTAGGGTTTTAAAAAAATCGTCATGTAGTAGATGCCTATTTATGGCAGCAAATCAGGTTAGGTTAAGATGGCCATAAACTTATATTTGTAATGTTATTCACGGGCTGGGTACGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATCCAAAAAATTAGCCAGACATGGTGGCATGCGCCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGGCACTACACTCCAGCCTGGGTGACAGGGCGAGACTCCGTCTCTAAAAAAATAAATAAATAAAATTAATGTTATTCAACCTAGGGCCATAGTTACATTTACTAATTCTGCCAGTTGAGAATTGTAGCAGGAATGTGATGGGACTTATTTTTAACACCATGTTGGATGTTTTTGTGATAGGAGCAGCGGCTCTTTAAAATCTGAGACATTTCTTTTGGAGCCTTTTATACTTTCTCTTTTTTTTGAGACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACGTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACGGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGAGTTGCAGGCGTGAGCCACCACCTATACTTTCATTTATAAGTTATTTCACCCCTACTTCTCTGATGATCAAGGAAATATAAGAAATAGTTTTTGGTTAG | pathogenic | 188,569 |
Determine whether the variant at chromosome 11, position 118478089, in gene KMT2A (lysine methyltransferase 2A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Inborn_genetic_diseases'] | GATTACGGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGAGTTGCAGGCGTGAGCCACCACCTATACTTTCATTTATAAGTTATTTCACCCCTACTTCTCTGATGATCAAGGAAATATAAGAAATAGTTTTTGGTTAGATAAGCCGTATTTATACCACACTGAACTTTTTGATAATATAGACTGGCAGCTTGAATTTTGAGGGGAATTTAAAATAGTAGTATAATTGGGAATAGAAGCTTAGTTGTTTGTTTGTTTTTAAGATAGGGTCTCACTCTGTCACCCAGGGTGGCTCAAGTGATCCTCTTGTCCCAGCCTCCTGAGTAGCTAGAACTACAGGTGTGTACCACCACGCCCAGCCAATTTTTAAATTTTGTGTAGAGATGGGTTCTCGCTATGTTGCCCATACTGGTCTTGAACTCCTGGCCTCAAATGATCTTCCCACCTCAAGCTGTTTTTTATTTTTTGATTAGAGGCCTTTTTTTGTGCTGCCAATTAGGATACAGTAATAGTTGATTTCTGTTTTGATATGATTTATCAGCTGGGAATAATTAGAGTTGTGTGTTTTGATTCTAAATCATACTGAAATTGATTAAGTATACCTTGGCTTCGTTCAGTTATAATTTCAACATGTATGGTTGTTATTGTTTTTGGATTGCCTCATATTCAGGGTCAAGAAAGTGACTCATCAGAGACCTCTGTGCGAGGACCCCGGATTAAACATGTCTGCAGAAGAGCAGCTGTTGCCCTTGGCCGAAAACGAGCTGTGTTTCCTGATGACATGCCCACCCTGAGTGCCTTACCATGGGAAGAACGAGAAAAGATTTTGTCTTCCATGGGGAATGATGGTAGGTCAAGAAGGTCAATCTTGGAGTCGGAACAGACTTTTGATTTGTTTGTTGATTATTCTGGGGATGCCCAGTAGGCTCTTCATAGTTAGTAGGTCCTCTGAAAAACAGATGGCAAGAGGGGATTAAATACATGAGGATTTTATTAGAAGAAATGCCTGAGAAGGAAAACGGGGAGGTAGCCAGGGAAGGCTGGGAGAGCTGTCAGACTGTGTTGCCCATCTCACCCCCATGAAGGAGCAGGGGAAGGAAGGCAGAATCTTCCTAGACTGCTGTGCAGGTGAGAAAGATTTGGCAAAGCTGTCCAGGAGTCTTTGAGTAAAAGTGGACTGTCAGGGGAGTGGGAGGCACATTCTCATGGCTGTCATATAGTTCTTAAGTGCAGAGTAGCCACTCAGAACAAATTTAGAGGTTTGAAGAATCCTTAGAAGCATTTGGTTTCTATTCTCGATTTTAGATTAGACTTTTGTTTTCAGTATTTGGAATTTTGCTTTCATCAAGATGCAAGTTATTGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGCCTCATTGTGTTGCCCAAGCTGGAGTACAGTGGTGCGATCTCGGCTCACTACAGCCTCCACTTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTATCTAGGATTACAGGCATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGTTTTGCTATGTTGGCCAGGCTGGTCTCAAACCCCTGACCTCAGGTGATCTGCCTGGCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCATTCCTGGCCAAGTTATTGGCATTTTTAAACATTTAAATAATTATTTAAAATAGATTCTGAGTTCTGTATATAAATATTTTATTTTAATGTATTTCATTTTTGGAGTACCAATTAAAACCAGGTTTGAATTCAGTACTCCCTTGGAACTAATGCCACATTTCTTTAACAGACAAGTCATCAATTGCTGGCTCAGAAGATGCTGAACCTCTTGCTCCACCCATCAAACCAATTAAACCTGTCACTAGAAACAAGGCACCCCAGGAACCTCCAGTAAAGAAAGGACGTCGATCGAGGCGGTGTGGGCAGTGTCCCGGCTGCCAGGTGCCTGAGGACTGTGGTGTTTGTACTAATTGCTTAGATAAGCCCAAGTTTGGTGGTCGCAATATAAAGAAGCAGTGCTGCAAGTAAGTGGGTGTTTCACTCTGAGATGTTGACCTCTCAACCATAAAGGTTGCTTATTTATCCCTAGTTTGTTGCAGAGATACATCAGGAAACTGAATGTGGTTGTAATTGAGTTGCAAGACTTGTTACAGTTAGATTTTGTGGTGTGGGCTGTGCTTAAATAAGAAATACTCTGGGGCCATGCTGTCATTAATAGAATGTTCTGCAACAATGGAAATGTTCTATTGGAATAGTAGACAACAATAATGGAAATGTTTAGTTCAGTATGCAGCCATTAGCCACATGTGGCTATTGAGCGCTTGACATGTGATTAGTGTGACTGAGGAACCACACTGTTTATTTCGTTTAACTTTAGCCATGTGTAACTAGTGGCTACCATATCAGACTGTAGCTCTGGAGGATTTCTACTTAAAACCTGACAACTTTATGTATAATTTTTGTTGGGTCTACTGAAATTATGTTGACCCAACAAAATTATGACAATTCAGGAAACATTGGAGATACCTTGCATAAATATCTGTGCTTTCTCACTCTCTCTTAGAATATGTTCATGCATATGGAATTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTTGCCAGGCTGGAGTGCAGTGACATGATCATAGCTCACTGCCAACACTGAACTCCTAGGCTCCAGTGATCCTCCTGCCTTGGCCTCCCAAAGTACTGGGATTACAAACATGAGCCACAGTGCTTGGCCTCATATGAAATTTCTTTTTTTAAGAAGTTTTGTTTTAATTTTTATGGGTACATAGTAGGTATATATATTTATGGTATACATAAGATGTTTTGATACAGGCATGCAATGCATCATAATCATATCATGCAGAGTGGGGTATCCATTCCCTTAAGCATTTATCCTTTGTATTACAAACAATCCAATTATACTCTTTCAGTCATTTTTAAATGTACAATTAAATTATTATTTACTACAATCACCCTGTTGTGCTATCAAATGCTAAGTCTTATTCATTCTTTCTGATTATTTTTTTGTACCCATTAGCCATCCCCTAATATGGAATTTTTTATGTGGAAATTTTTATTACTCTACTTTTTCTCCTCTTTTTTAGTCAGTTTGTGGAGGTACTTTCTGCCATCTGGCATACTTTATTTAAAATAGATCGAGATAGTAGCATAAACAGAAATTTTGGTGATTAAGCATCTTGTAAACTACTGGCACAAATAATAGGTGTCAATAGATATTTGCTGAATGAGTGAGTCACATGCAAGTGATTAATATAAAGAACAGTTGGGAGAAATGCTACATTATTTACTTCAGGGGAGATAATTTCTAGGAGACAAGAAGTAGTTCTGTGCTTTGGTTTGGTCTGACCTTAAACAAGAATCTTGTCTCAGTCCTGTTAGTGGAAAGAAGTAAACTAATTCACAGATCACAAAAAAGTACATGATAGCAAGATAAAGTTGCATTAAATTTAAGAGTTAAAGTGGATTCAGTGCAATTGTAGACTTCAGATTACATTTGAATTTTATTAAATCTAAATTTAGGGGTGAAGTATATATCAAAGCCACCAGATTTAATTATAGCATTATAGTGGTAGACAAAGGAGTTGTTTGATAATTTTAGTCTGTTTTGTGTTAAGATTACTTGATGGATATTAACATCGTAAGAGAGTAGGACTGATGCGACTACAAGAAATACTGACTGATCATTTTCTGTGTGGTGCTAGTCAGTGTTGGATTACAAGAAATTTGAGTCCCATTTCAAAAATAATTTGATATTTGCTCCTTTTAGATCCTAAAGGTAGGTGAAATTGCTGATCCAGGGATTCAAAGGCTCAGATTTAATCTGAGTAATGAGCAGTCCTTTTTTCAACTATAAAAATGTGAACCTGAATACAGATTCACTGATTGTTGCAGACAAAATGAACACTTGTTTCAGTGCTTTTCTTCTAAA | GATTACGGGCATGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGCTGGGAGTTGCAGGCGTGAGCCACCACCTATACTTTCATTTATAAGTTATTTCACCCCTACTTCTCTGATGATCAAGGAAATATAAGAAATAGTTTTTGGTTAGATAAGCCGTATTTATACCACACTGAACTTTTTGATAATATAGACTGGCAGCTTGAATTTTGAGGGGAATTTAAAATAGTAGTATAATTGGGAATAGAAGCTTAGTTGTTTGTTTGTTTTTAAGATAGGGTCTCACTCTGTCACCCAGGGTGGCTCAAGTGATCCTCTTGTCCCAGCCTCCTGAGTAGCTAGAACTACAGGTGTGTACCACCACGCCCAGCCAATTTTTAAATTTTGTGTAGAGATGGGTTCTCGCTATGTTGCCCATACTGGTCTTGAACTCCTGGCCTCAAATGATCTTCCCACCTCAAGCTGTTTTTTATTTTTTGATTAGAGGCCTTTTTTTGTGCTGCCAATTAGGATACAGTAATAGTTGATTTCTGTTTTGATATGATTTATCAGCTGGGAATAATTAGAGTTGTGTGTTTTGATTCTAAATCATACTGAAATTGATTAAGTATACCTTGGCTTCGTTCAGTTATAATTTCAACATGTATGGTTGTTATTGTTTTTGGATTGCCTCATATTCAGGGTCAAGAAAGTGACTCATCAGAGACCTCTGTGCGAGGACCCCGGATTAAACATGTCTGCAGAAGAGCAGCTGTTGCCCTTGGCCGAAAACGAGCTGTGTTTCCTGATGACATGCCCACCCTGAGTGCCTTACCATGGGAAGAACGAGAAAAGATTTTGTCTTCCATGGGGAATGATGGTAGGTCAAGAAGGTCAATCTTGGAGTCGGAACAGACTTTTGATTTGTTTGTTGATTATTCTGGGGATGCCCAGTAGGCTCTTCATAGTTAGTAGGTCCTCTGAAAAACAGATGGCAAGAGGGGATTAAATACATGAGGATTTTATTAGAAGAAATGCCTGAGAAGGAAAACGGGGAGGTAGCCAGGGAAGGCTGGGAGAGCTGTCAGACTGTGTTGCCCATCTCACCCCCATGAAGGAGCAGGGGAAGGAAGGCAGAATCTTCCTAGACTGCTGTGCAGGTGAGAAAGATTTGGCAAAGCTGTCCAGGAGTCTTTGAGTAAAAGTGGACTGTCAGGGGAGTGGGAGGCACATTCTCATGGCTGTCATATAGTTCTTAAGTGCAGAGTAGCCACTCAGAACAAATTTAGAGGTTTGAAGAATCCTTAGAAGCATTTGGTTTCTATTCTCGATTTTAGATTAGACTTTTGTTTTCAGTATTTGGAATTTTGCTTTCATCAAGATGCAAGTTATTGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGCCTCATTGTGTTGCCCAAGCTGGAGTACAGTGGTGCGATCTCGGCTCACTACAGCCTCCACTTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTATCTAGGATTACAGGCATGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGTTTTGCTATGTTGGCCAGGCTGGTCTCAAACCCCTGACCTCAGGTGATCTGCCTGGCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCATTCCTGGCCAAGTTATTGGCATTTTTAAACATTTAAATAATTATTTAAAATAGATTCTGAGTTCTGTATATAAATATTTTATTTTAATGTATTTCATTTTTGGAGTACCAATTAAAACCAGGTTTGAATTCAGTACTCCCTTGGAACTAATGCCACATTTCTTTAACAGACAAGTCATCAATTGCTGGCTCAGAAGATGCTGAACCTCTTGCTCCACCCATCAAACCAATTAAACCTGTCACTAGAAACAAGGCACCCCAGGAACCTCCAGTAAAGAAAGGACGTCGATCGAGGCAGTGTCCCGGCTGCCAGGTGCCTGAGGACTGTGGTGTTTGTACTAATTGCTTAGATAAGCCCAAGTTTGGTGGTCGCAATATAAAGAAGCAGTGCTGCAAGTAAGTGGGTGTTTCACTCTGAGATGTTGACCTCTCAACCATAAAGGTTGCTTATTTATCCCTAGTTTGTTGCAGAGATACATCAGGAAACTGAATGTGGTTGTAATTGAGTTGCAAGACTTGTTACAGTTAGATTTTGTGGTGTGGGCTGTGCTTAAATAAGAAATACTCTGGGGCCATGCTGTCATTAATAGAATGTTCTGCAACAATGGAAATGTTCTATTGGAATAGTAGACAACAATAATGGAAATGTTTAGTTCAGTATGCAGCCATTAGCCACATGTGGCTATTGAGCGCTTGACATGTGATTAGTGTGACTGAGGAACCACACTGTTTATTTCGTTTAACTTTAGCCATGTGTAACTAGTGGCTACCATATCAGACTGTAGCTCTGGAGGATTTCTACTTAAAACCTGACAACTTTATGTATAATTTTTGTTGGGTCTACTGAAATTATGTTGACCCAACAAAATTATGACAATTCAGGAAACATTGGAGATACCTTGCATAAATATCTGTGCTTTCTCACTCTCTCTTAGAATATGTTCATGCATATGGAATTTTTTTTTTTAAGAGACAGGGTCTTGCTCTGTTGCCAGGCTGGAGTGCAGTGACATGATCATAGCTCACTGCCAACACTGAACTCCTAGGCTCCAGTGATCCTCCTGCCTTGGCCTCCCAAAGTACTGGGATTACAAACATGAGCCACAGTGCTTGGCCTCATATGAAATTTCTTTTTTTAAGAAGTTTTGTTTTAATTTTTATGGGTACATAGTAGGTATATATATTTATGGTATACATAAGATGTTTTGATACAGGCATGCAATGCATCATAATCATATCATGCAGAGTGGGGTATCCATTCCCTTAAGCATTTATCCTTTGTATTACAAACAATCCAATTATACTCTTTCAGTCATTTTTAAATGTACAATTAAATTATTATTTACTACAATCACCCTGTTGTGCTATCAAATGCTAAGTCTTATTCATTCTTTCTGATTATTTTTTTGTACCCATTAGCCATCCCCTAATATGGAATTTTTTATGTGGAAATTTTTATTACTCTACTTTTTCTCCTCTTTTTTAGTCAGTTTGTGGAGGTACTTTCTGCCATCTGGCATACTTTATTTAAAATAGATCGAGATAGTAGCATAAACAGAAATTTTGGTGATTAAGCATCTTGTAAACTACTGGCACAAATAATAGGTGTCAATAGATATTTGCTGAATGAGTGAGTCACATGCAAGTGATTAATATAAAGAACAGTTGGGAGAAATGCTACATTATTTACTTCAGGGGAGATAATTTCTAGGAGACAAGAAGTAGTTCTGTGCTTTGGTTTGGTCTGACCTTAAACAAGAATCTTGTCTCAGTCCTGTTAGTGGAAAGAAGTAAACTAATTCACAGATCACAAAAAAGTACATGATAGCAAGATAAAGTTGCATTAAATTTAAGAGTTAAAGTGGATTCAGTGCAATTGTAGACTTCAGATTACATTTGAATTTTATTAAATCTAAATTTAGGGGTGAAGTATATATCAAAGCCACCAGATTTAATTATAGCATTATAGTGGTAGACAAAGGAGTTGTTTGATAATTTTAGTCTGTTTTGTGTTAAGATTACTTGATGGATATTAACATCGTAAGAGAGTAGGACTGATGCGACTACAAGAAATACTGACTGATCATTTTCTGTGTGGTGCTAGTCAGTGTTGGATTACAAGAAATTTGAGTCCCATTTCAAAAATAATTTGATATTTGCTCCTTTTAGATCCTAAAGGTAGGTGAAATTGCTGATCCAGGGATTCAAAGGCTCAGATTTAATCTGAGTAATGAGCAGTCCTTTTTTCAACTATAAAAATGTGAACCTGAATACAGATTCACTGATTGTTGCAGACAAAATGAACACTTGTTTCAGTGCTTTTCTTCTAAANNNNNNNNN | pathogenic | 188,576 |
Is chromosome 11, position 118488707, gene KMT2A (lysine methyltransferase 2A) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Inborn_genetic_diseases', 'Wiedemann-Steiner_syndrome'] | GCTCAGGAGTTCAAGACCAGCCTGAGCACCATAGTGAGACCTCATCTCTACTAAAAAAAAAATAAAATACCAGGCATGGTAGCATGTGCCTGTAGTCCCAGCTACTCTAGTCCCAGCTACTTGGGAGGCTGAGGTGAGAGGATCACTTGAGCCCAGGAGATCGAGGCTGCAGTGAGCCATTATCACGCCACTGCACTCCAGCCTGGGCAACTAAGCAAGACCCTGTCTCAAAAAAATTTTTAAAAATTTAAAAAATAAGAAAATCCAAGCTAGGTTGAAATCTGAATGTTGAGCAGTCAGTGAGACACAAACTAGCTAAGAAAGTCAACCCTGCCCACTTGCCATTTGAAGTTATTACTAGCAAAATTACAAATTATTGCCTACTATTCATTTACTAAGCAAATATTCTCTTAGTCCCTATTACGAACAACTTATTGTTCTAAGTGCAGAAGTTCAGATATCATTGAGACTGAGAATATTCAGTCTACAAGTGCCAGGGGTCTACTGTATCCTCTTTTCCGTCTTAATACAGTGCTTTGCACCCATATATATGCCACCCACAGGAATAACTTTTTTTATAGCACCAGTCCTTCAACTTCTGGGATTAAACAGATTTTTTTTCAGGGTATAATTGTTCTGATCTAAATTCTTTATAGTTGTACATAGCAATCTCACAGGGTTCCTAAAATATAAATTAGAGAATAGCATGCTGCCTGCACTGCACTCCTAAAGCATGACCAGTGCTTGATAAACTCTCCTCCATGCGAATTTTTTAAACTTTTTATGTTGACATGATTTCAGACTTACAAAAAAACTATGAGTTGTACAGAGAATTCTAAGTACCCCTCACCCAAATTCCCTAAGTGTTAATATGTTTCTCTGTGTGTATATATTTTACAAAATAACAAATAAAATACATATACACATTTTACCTGTAGATACACATGTATCTAAAAATTTGAGAACAAGTTGCAGACATAAACCATTTTACCTCTAAATATTTTAGTGTATATTTTTAAAAATCAAGGACGTTCTCGTATTTAACCATGGTATAATTACCAAATCAGGAAATTAACACACTGGTACATTACTATTATCTGATCTATAGGCCTTATTTAGGTTTGACCAATTGTCCCAATAATTCCTTTATGGCAAAAGAAAATTCTGGATTATCCTAGTTAGTATTTTTGAAAATCCTATATCAATATGAAAATAACTTATTTCTAAAATTAGAAATGGAGGCTGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTCGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCGCCTGTGATCCCAGCTACTCAGGAGACTGAGGCTGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGTCGAGATCGCACCACTGCACCCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATTAAAACAATTAAAAAAATAAAATTACAAATGGAAAGGACAAACCAGACCTTACAACTGTTTCGTATATTACAGAAAACGTTTAAACCCTCCCTATTTCCCCCACCCCACTCCTTTATATTCCCATAGCTCTTTGTTTATACCACTCTTAGGTCACTTAGCATGTTCTGTTAAATCTTGTATTATATTTATTTTGTTACTTTCTATTTCCACTGGTATTACCACTTTAGTACTCTGAATCTCCCGCAGTGTCCAATACTGTACTTTTTTACATAGTCATTGCTTAATGAATATGTATTGAATTAAATATATGCCAGTGGACTACTAAAACCCAAAGTATATAAGAAGGGTATGGTTGATTATGTTTTTCTACATATTATTTGACATACTTCTATCTTCCCATGTTCTTACTATAGTTTGTGTATTGCCAAGTCTGTTGTGAGCCCTTCCACAAGTTTTGTTTAGAGGAGAACGAGCGCCCTCTGGAGGACCAGCTGGAAAATTGGTGTTGTCGTCGTTGCAAATTCTGTCACGTTTGTGGAAGGCAACATCAGGCTACAAAGGTACAAAACTTGGTAATAGAACTACAGCTGGGCCTCTGTATCAGTGGGTTCTGTATCCCTGGACTCAACCAACCTTGGATTGAATGTATCTGGGAAAAAATGAGTAGTTGCCTCTGTACTCTATGTGAACAGACTTTTTCTTGTCATTATTTCCTAAACAATACAGTATAACAACTATTTACATTGTATTAGGTATGATAAGTAATCTAGAGATAATTTAAAGTATATGGTGGGCGGATCACTTGAAGCCAGGAGTTCGAGACCAGCCTGAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGGAGGAAAATCGCTTGAACTTTGGAGGCAGAGGTTGCAGTGAGCCACTCCAGCCTGTGGTGCAGTCTGTCACTCCAGCCTGGGTGACACAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAACTATATGGGAGGATGTGCATTTTGTTATATGCAAATGCTGCACCATTTTGTCTAGGGACTTGGGCATCCATGGACTTTGGTATCCTCTGGGGGTCCTGGAACCAATCCCCCATGGAAACCAAGGATGACTGTGCTTAGAGTATTGCTTTCTTTCTTGATTTGTATTTCTGTCTTCCAGTTAAGATTTTGTATCTATATTATTTCTCTTTTTACTTAGTCTGTCTTTAGCATTTAATTGGGTGTAATCAGTTGCCTATTTTGTGTTTTAATTTTGGGACTATAGCAGAAAACATGATGTTGAATAAAATTCCAAAAATAAGTCAAATCTACCTAATATGAATACTCATCACTGAGTGCCTTTGGCAGGAAATAAATCTATCTCAATGCTTTAATTGGGAGTAAATAATGTATGAGGAAATTTAAACTCATAATTGTGTGCTGTACTTACTTGCCAGTAAATGTGAAATGGGGTACTAAGTAATAGGTGTTGGGTGAAGGTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAGAACCACCATGTGACTATTGGACTTATGTAACTTGTATTACAAATATCTATGCTTGAGGATGTCAGTATGACAATCTTTTTGCCTCATTACTAGGAAATCATCTCAGCAGAGAAATTAAATCTATAAATGGATGCATTTAAGATCTTTTTAGTTAAGTAAAGATATTAAAAACAAGAAATTCCTATTGAATTTCTTTTCTTCTTTTCTAGATCTGTACCAAGTGTGTTCGCTGTAAGAGCTGTGGATCCACAACTCCAGGCAAAGGGTGGGATGCACAGTGGTCTCATGATTTCTCACTGTGTCATGATTGCGCCAAGCTCTTTGCTAAAGGTACCCAAAAAAGCCAGTTTTGCCAGCTTTCGGAGGTTGTACTTGGTGTTCTGGAGGTGAACTAGACTCTAGTGAAATGAAATAAAAAGTCTCACACATTATGTCAAGGATACCATTTAGACACATTTCCTAAGTTCCTGTTTAGAACTTAGCAACTAGAAATGTCTTGTTAGTTTATACGGGAAGTGTTAAGGGGACTTTTCATTATAACTAACCACAAAGAAATCCTCTAAGCTAGTATTTCCCAAAGTGTGATATATATATTATATATTTGATTATTTCAGACATTATTTTAGTTGCTACCCAAACATTTTCTTTCAGTAGTTATATTAGAAAAAAATATTAATATAACTAATACATTAAACCTGTTATATTACTGACTTAGGATAATCATATAAAGTTCACTGTTTTAAGTAAGATAAGCAGATCAGTTTGAAGAAGTTCATTAAGTAAAAAATAATATAGGAGATCTCTGTATATAAAGAAAATTTATGAAGGTTATACA | GCTCAGGAGTTCAAGACCAGCCTGAGCACCATAGTGAGACCTCATCTCTACTAAAAAAAAAATAAAATACCAGGCATGGTAGCATGTGCCTGTAGTCCCAGCTACTCTAGTCCCAGCTACTTGGGAGGCTGAGGTGAGAGGATCACTTGAGCCCAGGAGATCGAGGCTGCAGTGAGCCATTATCACGCCACTGCACTCCAGCCTGGGCAACTAAGCAAGACCCTGTCTCAAAAAAATTTTTAAAAATTTAAAAAATAAGAAAATCCAAGCTAGGTTGAAATCTGAATGTTGAGCAGTCAGTGAGACACAAACTAGCTAAGAAAGTCAACCCTGCCCACTTGCCATTTGAAGTTATTACTAGCAAAATTACAAATTATTGCCTACTATTCATTTACTAAGCAAATATTCTCTTAGTCCCTATTACGAACAACTTATTGTTCTAAGTGCAGAAGTTCAGATATCATTGAGACTGAGAATATTCAGTCTACAAGTGCCAGGGGTCTACTGTATCCTCTTTTCCGTCTTAATACAGTGCTTTGCACCCATATATATGCCACCCACAGGAATAACTTTTTTTATAGCACCAGTCCTTCAACTTCTGGGATTAAACAGATTTTTTTTCAGGGTATAATTGTTCTGATCTAAATTCTTTATAGTTGTACATAGCAATCTCACAGGGTTCCTAAAATATAAATTAGAGAATAGCATGCTGCCTGCACTGCACTCCTAAAGCATGACCAGTGCTTGATAAACTCTCCTCCATGCGAATTTTTTAAACTTTTTATGTTGACATGATTTCAGACTTACAAAAAAACTATGAGTTGTACAGAGAATTCTAAGTACCCCTCACCCAAATTCCCTAAGTGTTAATATGTTTCTCTGTGTGTATATATTTTACAAAATAACAAATAAAATACATATACACATTTTACCTGTAGATACACATGTATCTAAAAATTTGAGAACAAGTTGCAGACATAAACCATTTTACCTCTAAATATTTTAGTGTATATTTTTAAAAATCAAGGACGTTCTCGTATTTAACCATGGTATAATTACCAAATCAGGAAATTAACACACTGGTACATTACTATTATCTGATCTATAGGCCTTATTTAGGTTTGACCAATTGTCCCAATAATTCCTTTATGGCAAAAGAAAATTCTGGATTATCCTAGTTAGTATTTTTGAAAATCCTATATCAATATGAAAATAACTTATTTCTAAAATTAGAAATGGAGGCTGGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTCGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACGCGCCTGTGATCCCAGCTACTCAGGAGACTGAGGCTGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGTCGAGATCGCACCACTGCACCCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATTAAAACAATTAAAAAAATAAAATTACAAATGGAAAGGACAAACCAGACCTTACAACTGTTTCGTATATTACAGAAAACGTTTAAACCCTCCCTATTTCCCCCACCCCACTCCTTTATATTCCCATAGCTCTTTGTTTATACCACTCTTAGGTCACTTAGCATGTTCTGTTAAATCTTGTATTATATTTATTTTGTTACTTTCTATTTCCACTGGTATTACCACTTTAGTACTCTGAATCTCCCGCAGTGTCCAATACTGTACTTTTTTACATAGTCATTGCTTAATGAATATGTATTGAATTAAATATATGCCAGTGGACTACTAAAACCCAAAGTATATAAGAAGGGTATGGTTGATTATGTTTTTCTACATATTATTTGACATACTTCTATCTTCCCATGTTCTTACTATAGTTTGTGTATTGCCAAGTCTGTTGTGAGCCCTTCCACAAGTTTTGTTTAGAGGAGAACGAGCGCCCTCTGGAGGACCAGCTGGAAAATTGGTGTTGTCGTTGCAAATTCTGTCACGTTTGTGGAAGGCAACATCAGGCTACAAAGGTACAAAACTTGGTAATAGAACTACAGCTGGGCCTCTGTATCAGTGGGTTCTGTATCCCTGGACTCAACCAACCTTGGATTGAATGTATCTGGGAAAAAATGAGTAGTTGCCTCTGTACTCTATGTGAACAGACTTTTTCTTGTCATTATTTCCTAAACAATACAGTATAACAACTATTTACATTGTATTAGGTATGATAAGTAATCTAGAGATAATTTAAAGTATATGGTGGGCGGATCACTTGAAGCCAGGAGTTCGAGACCAGCCTGAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGGAGGAAAATCGCTTGAACTTTGGAGGCAGAGGTTGCAGTGAGCCACTCCAGCCTGTGGTGCAGTCTGTCACTCCAGCCTGGGTGACACAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAACTATATGGGAGGATGTGCATTTTGTTATATGCAAATGCTGCACCATTTTGTCTAGGGACTTGGGCATCCATGGACTTTGGTATCCTCTGGGGGTCCTGGAACCAATCCCCCATGGAAACCAAGGATGACTGTGCTTAGAGTATTGCTTTCTTTCTTGATTTGTATTTCTGTCTTCCAGTTAAGATTTTGTATCTATATTATTTCTCTTTTTACTTAGTCTGTCTTTAGCATTTAATTGGGTGTAATCAGTTGCCTATTTTGTGTTTTAATTTTGGGACTATAGCAGAAAACATGATGTTGAATAAAATTCCAAAAATAAGTCAAATCTACCTAATATGAATACTCATCACTGAGTGCCTTTGGCAGGAAATAAATCTATCTCAATGCTTTAATTGGGAGTAAATAATGTATGAGGAAATTTAAACTCATAATTGTGTGCTGTACTTACTTGCCAGTAAATGTGAAATGGGGTACTAAGTAATAGGTGTTGGGTGAAGGTAATATGATGCTTATCTTTTTGCCATTATATTTTCTTACAGCAGCTGCTGGAGTGTAATAAGTGCCGAAACAGCTATCACCCTGAGTGCCTGGGACCAAACTACCCCACCAAACCCACAAAGAAGAAGAAAGTCTGGGTGAGTTATACACATGATGCTCTTTTATAGAGAACCACCATGTGACTATTGGACTTATGTAACTTGTATTACAAATATCTATGCTTGAGGATGTCAGTATGACAATCTTTTTGCCTCATTACTAGGAAATCATCTCAGCAGAGAAATTAAATCTATAAATGGATGCATTTAAGATCTTTTTAGTTAAGTAAAGATATTAAAAACAAGAAATTCCTATTGAATTTCTTTTCTTCTTTTCTAGATCTGTACCAAGTGTGTTCGCTGTAAGAGCTGTGGATCCACAACTCCAGGCAAAGGGTGGGATGCACAGTGGTCTCATGATTTCTCACTGTGTCATGATTGCGCCAAGCTCTTTGCTAAAGGTACCCAAAAAAGCCAGTTTTGCCAGCTTTCGGAGGTTGTACTTGGTGTTCTGGAGGTGAACTAGACTCTAGTGAAATGAAATAAAAAGTCTCACACATTATGTCAAGGATACCATTTAGACACATTTCCTAAGTTCCTGTTTAGAACTTAGCAACTAGAAATGTCTTGTTAGTTTATACGGGAAGTGTTAAGGGGACTTTTCATTATAACTAACCACAAAGAAATCCTCTAAGCTAGTATTTCCCAAAGTGTGATATATATATTATATATTTGATTATTTCAGACATTATTTTAGTTGCTACCCAAACATTTTCTTTCAGTAGTTATATTAGAAAAAAATATTAATATAACTAATACATTAAACCTGTTATATTACTGACTTAGGATAATCATATAAAGTTCACTGTTTTAAGTAAGATAAGCAGATCAGTTTGAAGAAGTTCATTAAGTAAAAAATAATATAGGAGATCTCTGTATATAAAGAAAATTTATGAAGGTTATACANNN | pathogenic | 188,607 |
Is the genetic variant on chromosome 11, position 118496323, gene KMT2A (lysine methyltransferase 2A), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Wiedemann-Steiner_syndrome'] | TTTTTGTATACAGTTGGAGTTCAGTGATGATATTGTGAAGATCATTCAAGCAGCCATTAATTCAGATGGAGGACAGCCAGAAATTAAAAAAGCCAACAGCATGGTCAAGTCCTTCTTCATTCGGGTGAATGATATTACTAATTCATGTTTTTAATGCTTACCTATAAGTAATTACCCTGTGAATACAATGAACTTGTTCTCTTCTACTTTTTGCTTTGTGGTGTGTATAAAACATCTTTGGTTTAATTTGATCCCCTGATTCTTTGAGAGGAACTTGGTGAGGTTGCCAGAGTGGATGGATCTTTCTCTTGGTGGCCTGAAATTATCCTCGTATTAACAGAGAAGCTGGTTTGAAGATTTTTCATGTGGTATCTAAATGAGTGTTTACATATTTACATTTTGTTTGTGTTTTCTTTTAGCAAATGGAACGTGTTTTTCCATGGTTCAGTGTCAAAAAGTCCAGGTTTTGGGAGCCAAATAAAGTATCAAGCAAGTAAGTGAATTTAGCATAACTTTTTTTTCTCCTCATCGGCTAGAAATCTGAGAGTTCTCATATTTCTAGATTGCAGTTTTCCAAAAGGTTTTAATACTAGAAATGAATTGGTTGAAATGCCTTTTCGGTGTGGTTTTGAGGACTACATTTAATGTTTGTTATAAGCAATTGCCTTTTTGTTCTTTACTTTTATATTTGTTTTATTGTAGGGAGCTTGGTTTAATTGTGACAAATGTACAATACATGTGTGGTACAGCCATGTAGCTGGCCTTGTTATAAATGGGTTCTGTTTGACTGATAGTTCAAATGGTGCTTTGTACTGCTCTTGATTTTCCATATGTAACCTTTAATTTTTATTCCAGTAAATTCTTTTGATTTGATTTTATTTATTTATTTATTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCACCAGGCTGGAGTGCAGTGACATGATCTCGGCTCACTACAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCAAGTAGCTGGGAAAACAGGCGGGCACCACCATGCCCAGCTAATTTTTGTATTTTAATAGAGACTGGGTTTCACCATTTTGGCCAGGATGGTCTTGATCTCTTGACCTGGTGATCCGCCTGCCTCACCCTCCCAAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCTCTTTTGAGTTTTTGATAGGGTTATCATTTGTTTCAGCAAGTTTAACCAAGAGTCATATGTTGAGATATTTTTTAAAATATTGAGTTCTGTGTACTTCAGCAATTTTCAAACGCTGTGACTTGTTCTTATATTCTGTGAATGGCTCCTACATGGGGCAACAGGTGATATCAAGAATTTATTTTATACAGTTCTAGGTATACTGTAGGAGTTCAATAAATGCTTGTTGAATCAATTATTTTCAGCAGTGGGATGTTACCAAACGCAGTGCTTCCACCTTCACTTGACCATAATTATGCTCAGTGGCAGGAGCGAGAGGAAAACAGCCACACTGAGCAGCCTCCTTTAATGAAGAAAATCATTCCAGCTCCCAAACCCAAAGGTCCTGGAGAACCAGACTCACCAACTCCTCTGCATCCTCCTACACCACCAATTTTGAGTAAGCCACCAAAAGGAGAGTCGTCACCCATTTCCCTCTAGATGCAGATGATTGACTTCGTGAATCCAATTCACTAAAATTAGATATACTTGGATATCAGAAAGGAATTTTCAGGTCATCCTTAAATGTAATACCATCATTAATTTTGCTTCACTTGAGGTGTTAATGAGGACTTGATATAAATACTCTGGAGTATTGTAACATAGATGATGAGGTAGCGTAACTCTGAACACTTTTTGAAAAGTGGTTATTTTATAGGCTGTGGGCTATGTAAGCTGAATTATTTCTTTTTTCCTTGAAATCAGACATAGTATTGCCAATTTTAACTGGATCTCAAGGTATTGATGGGAGTCTTTTGGATTTCAAGGTACTGATAGGAGTCGAGAAGACAGTCCAGAGCTGAACCCACCCCCAGGCATAGAAGACAATAGACAGTGTGCGTTATGTTTGACTTATGGTGATGACAGTGCTAATGTAAGTACTTTGCAACACAGGGCCCTAGTTAATACATACTCCAAAAGAACTGTTTGTCCTTGTGTCCATACTTGATGACTGGGTGCCATTTATTTAATGAACTTACTTATAACTTACTAATTTATAACTTTTATTTACCTATAACTTATAACTTATTAATTTGTAACTTATTTTTTGTCACTTAGTTCATGGCACTTGGAGTTTTTTAATGACTGATTTTGTTGATTAAAAGGTGACTGATTTGCCTTAAATTAAACCCTTGATGTCTAGTAATTTCTAATGGAAGTTCCTCAAGAATATTTTGTGAAAGTTAATAAAATCTAAGTTGCATATTAAAAAGCTTGTGTTTCATATAGGATAGCAGAATCGTTAAGAGCCCGAGTTCTGCCGCCTGCCTGAATACATTTCTGTGCTTAACTGCCTACTTATTGACTTTGGCAAGTAGTTTAACCTCTCTGACCCTCAGTTTCATCTTTAAAATGAAGATAATAACGCTTACCTCAGAGTGGCTGTGAGGATTAAATGAAATAATGTATGTAAAGCCTCTATTTGGTGCCTGGCACACACAGTAAGCTACAATTTTTTTAAAAGTTTTTTGTGTTTTTTGTTTTGTTTTGTTTTGTTTTTTTGAGCGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTACAACCTCCGCCTCCTATGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCCCAGGTGATCCACCCACCTCATATCCCAAAGTGGTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAAAAGCTTTTAAATACCATCTGAGAGAACTGGCTTTGAAATACAGTTTATAGATGTCACTGCACATTTTTATAAACTTACCACCTATTGCTCTTTTTGTTTGTTTCCTTTTGAGACCAGGTCTTGCTCTGTCACCCAGACTAGAGTACAGTGGCATGCTTTTGGCTCACTGCAATCTCGGCTTCCGGGGCTCAAGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGAGACCACAGATGCGCACCACCATGCCTGGCTAATTTTTGTTTTGTTTTTGTTGAGACAAAGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGCGATCCTACCACTTCAGCCTCCAAAAGTGCTGGGATTACAGACGTGAACCACCATACCCAGCTCATTTTTTTATTCTCTAGATTTGTAAAATAGTTTCAGTCTATGGAAAAAGTAATCTTGAAAAGAAGGAAGTGGAAACAGAGCAACGTTGCAAAAAGAATTCTGATTTCTGTGTGCCTCCCTCCATTAAAGAATTATAGTTGCTTTCTTGAGGTTATCTTCACTGGAAAAGCTAATGCCGAGGAAAACCTCCTTTGGCATTATATTCTTTAGGAAAAAAGAAATCTCTTTATTTTATAGGATGCTGGTCGTTTACTATATATTGGCCAAAATGAGTGGACACATGTAAATTGTGCTTTGTGGTCAGCGGAAGTGTTTGAAGATGATGACGGATCACTAAAGAATGTGCATATGGCTGTGATCAGGGGCAAGCAGCTGGTAAGACCTTATGGGTAAATTTTATGAAAGAGATTCCCTCTCAGTTTCCAGATATTCTTCCTGTGGGTGAATATGGCCTCCCTGATATTTTTCACAGTGCCATCAGGGTAGTTAGCCAACAAGTATTGATATACATAATTCAACAGATAAAATGATAAATTTTATCTGTTTTCAATTTATCAATAGATAAAATGAATTGTAGGAACTGTAGAATGGGATGAGTCTATAGAGGAGACGGTAAACGTCTTAAAACATATGAAAGTCTGAATAGGACTCTGTTCTTTTTGGATTTTTAGA | TTTTTGTATACAGTTGGAGTTCAGTGATGATATTGTGAAGATCATTCAAGCAGCCATTAATTCAGATGGAGGACAGCCAGAAATTAAAAAAGCCAACAGCATGGTCAAGTCCTTCTTCATTCGGGTGAATGATATTACTAATTCATGTTTTTAATGCTTACCTATAAGTAATTACCCTGTGAATACAATGAACTTGTTCTCTTCTACTTTTTGCTTTGTGGTGTGTATAAAACATCTTTGGTTTAATTTGATCCCCTGATTCTTTGAGAGGAACTTGGTGAGGTTGCCAGAGTGGATGGATCTTTCTCTTGGTGGCCTGAAATTATCCTCGTATTAACAGAGAAGCTGGTTTGAAGATTTTTCATGTGGTATCTAAATGAGTGTTTACATATTTACATTTTGTTTGTGTTTTCTTTTAGCAAATGGAACGTGTTTTTCCATGGTTCAGTGTCAAAAAGTCCAGGTTTTGGGAGCCAAATAAAGTATCAAGCAAGTAAGTGAATTTAGCATAACTTTTTTTTCTCCTCATCGGCTAGAAATCTGAGAGTTCTCATATTTCTAGATTGCAGTTTTCCAAAAGGTTTTAATACTAGAAATGAATTGGTTGAAATGCCTTTTCGGTGTGGTTTTGAGGACTACATTTAATGTTTGTTATAAGCAATTGCCTTTTTGTTCTTTACTTTTATATTTGTTTTATTGTAGGGAGCTTGGTTTAATTGTGACAAATGTACAATACATGTGTGGTACAGCCATGTAGCTGGCCTTGTTATAAATGGGTTCTGTTTGACTGATAGTTCAAATGGTGCTTTGTACTGCTCTTGATTTTCCATATGTAACCTTTAATTTTTATTCCAGTAAATTCTTTTGATTTGATTTTATTTATTTATTTATTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCACCAGGCTGGAGTGCAGTGACATGATCTCGGCTCACTACAACCTCCGCCTCCCTGGTTCAAGCGATTCTCCTCCCTCAGCCTCCCAAGTAGCTGGGAAAACAGGCGGGCACCACCATGCCCAGCTAATTTTTGTATTTTAATAGAGACTGGGTTTCACCATTTTGGCCAGGATGGTCTTGATCTCTTGACCTGGTGATCCGCCTGCCTCACCCTCCCAAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCTCTTTTGAGTTTTTGATAGGGTTATCATTTGTTTCAGCAAGTTTAACCAAGAGTCATATGTTGAGATATTTTTTAAAATATTGAGTTCTGTGTACTTCAGCAATTTTCAAACGCTGTGACTTGTTCTTATATTCTGTGAATGGCTCCTACATGGGGCAACAGGTGATATCAAGAATTTATTTTATACAGTTCTAGGTATACTGTAGGAGTTCAATAAATGCTTGTTGAATCAATTATTTTCAGCAGTGGGATGTTACCAAACGCAGTGCTTCCACCTTCACTTGACCATAATTATGCTCAGTGGCAGGAGCGAGAGGAAAACAGCCACACTGAGCAGCCTCCTTTAATGAAGAAAATCATTCCAGCTCCCAAACCCAAAGGTCCTGGAGAACCAGACTCACCAACTCCTCTGCATCCTCCTACACCACCAATTTTGAGTAAGCCACCAAAAGGAGAGTCGTCACCCATTTCCCTCTAGATGCAGATGATTGACTTCGTGAATCCAATTCACTAAAATTAGATATACTTGGATATCAGAAAGGAATTTTCAGGTCATCCTTAAATGTAATACCATCATTAATTTTGCTTCACTTGAGGTGTTAATGAGGACTTGATATAAATACTCTGGAGTATTGTAACATAGATGATGAGGTAGCGTAACTCTGAACACTTTTTGAAAAGTGGTTATTTTATAGGCTGTGGGCTATGTAAGCTGAATTATTTCTTTTTTCCTTGAAATCAGACATAGTATTGCCAATTTTAACTGGATCTCAAGGTATTGATGGGAGTCTTTTGGATTTCAAGGTACTGATAGGAGTCGAGAAGACAGTCCAGAGCTGAACCCACCCCCAGGCATAGAAGACAATAGGACAGTGTGCGTTATGTTTGACTTATGGTGATGACAGTGCTAATGTAAGTACTTTGCAACACAGGGCCCTAGTTAATACATACTCCAAAAGAACTGTTTGTCCTTGTGTCCATACTTGATGACTGGGTGCCATTTATTTAATGAACTTACTTATAACTTACTAATTTATAACTTTTATTTACCTATAACTTATAACTTATTAATTTGTAACTTATTTTTTGTCACTTAGTTCATGGCACTTGGAGTTTTTTAATGACTGATTTTGTTGATTAAAAGGTGACTGATTTGCCTTAAATTAAACCCTTGATGTCTAGTAATTTCTAATGGAAGTTCCTCAAGAATATTTTGTGAAAGTTAATAAAATCTAAGTTGCATATTAAAAAGCTTGTGTTTCATATAGGATAGCAGAATCGTTAAGAGCCCGAGTTCTGCCGCCTGCCTGAATACATTTCTGTGCTTAACTGCCTACTTATTGACTTTGGCAAGTAGTTTAACCTCTCTGACCCTCAGTTTCATCTTTAAAATGAAGATAATAACGCTTACCTCAGAGTGGCTGTGAGGATTAAATGAAATAATGTATGTAAAGCCTCTATTTGGTGCCTGGCACACACAGTAAGCTACAATTTTTTTAAAAGTTTTTTGTGTTTTTTGTTTTGTTTTGTTTTGTTTTTTTGAGCGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTACAACCTCCGCCTCCTATGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCCCAGGTGATCCACCCACCTCATATCCCAAAGTGGTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAAAAGCTTTTAAATACCATCTGAGAGAACTGGCTTTGAAATACAGTTTATAGATGTCACTGCACATTTTTATAAACTTACCACCTATTGCTCTTTTTGTTTGTTTCCTTTTGAGACCAGGTCTTGCTCTGTCACCCAGACTAGAGTACAGTGGCATGCTTTTGGCTCACTGCAATCTCGGCTTCCGGGGCTCAAGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGAGACCACAGATGCGCACCACCATGCCTGGCTAATTTTTGTTTTGTTTTTGTTGAGACAAAGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGCGATCCTACCACTTCAGCCTCCAAAAGTGCTGGGATTACAGACGTGAACCACCATACCCAGCTCATTTTTTTATTCTCTAGATTTGTAAAATAGTTTCAGTCTATGGAAAAAGTAATCTTGAAAAGAAGGAAGTGGAAACAGAGCAACGTTGCAAAAAGAATTCTGATTTCTGTGTGCCTCCCTCCATTAAAGAATTATAGTTGCTTTCTTGAGGTTATCTTCACTGGAAAAGCTAATGCCGAGGAAAACCTCCTTTGGCATTATATTCTTTAGGAAAAAAGAAATCTCTTTATTTTATAGGATGCTGGTCGTTTACTATATATTGGCCAAAATGAGTGGACACATGTAAATTGTGCTTTGTGGTCAGCGGAAGTGTTTGAAGATGATGACGGATCACTAAAGAATGTGCATATGGCTGTGATCAGGGGCAAGCAGCTGGTAAGACCTTATGGGTAAATTTTATGAAAGAGATTCCCTCTCAGTTTCCAGATATTCTTCCTGTGGGTGAATATGGCCTCCCTGATATTTTTCACAGTGCCATCAGGGTAGTTAGCCAACAAGTATTGATATACATAATTCAACAGATAAAATGATAAATTTTATCTGTTTTCAATTTATCAATAGATAAAATGAATTGTAGGAACTGTAGAATGGGATGAGTCTATAGAGGAGACGGTAAACGTCTTAAAACATATGAAAGTCTGAATAGGACTCTGTTCTTTTTGGATTTTTAG | pathogenic | 188,630 |
Gene mutation in KMT2A (lysine methyltransferase 2A) at chromosome 11, position 118497978—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic | TCTAGATGCAGATGATTGACTTCGTGAATCCAATTCACTAAAATTAGATATACTTGGATATCAGAAAGGAATTTTCAGGTCATCCTTAAATGTAATACCATCATTAATTTTGCTTCACTTGAGGTGTTAATGAGGACTTGATATAAATACTCTGGAGTATTGTAACATAGATGATGAGGTAGCGTAACTCTGAACACTTTTTGAAAAGTGGTTATTTTATAGGCTGTGGGCTATGTAAGCTGAATTATTTCTTTTTTCCTTGAAATCAGACATAGTATTGCCAATTTTAACTGGATCTCAAGGTATTGATGGGAGTCTTTTGGATTTCAAGGTACTGATAGGAGTCGAGAAGACAGTCCAGAGCTGAACCCACCCCCAGGCATAGAAGACAATAGACAGTGTGCGTTATGTTTGACTTATGGTGATGACAGTGCTAATGTAAGTACTTTGCAACACAGGGCCCTAGTTAATACATACTCCAAAAGAACTGTTTGTCCTTGTGTCCATACTTGATGACTGGGTGCCATTTATTTAATGAACTTACTTATAACTTACTAATTTATAACTTTTATTTACCTATAACTTATAACTTATTAATTTGTAACTTATTTTTTGTCACTTAGTTCATGGCACTTGGAGTTTTTTAATGACTGATTTTGTTGATTAAAAGGTGACTGATTTGCCTTAAATTAAACCCTTGATGTCTAGTAATTTCTAATGGAAGTTCCTCAAGAATATTTTGTGAAAGTTAATAAAATCTAAGTTGCATATTAAAAAGCTTGTGTTTCATATAGGATAGCAGAATCGTTAAGAGCCCGAGTTCTGCCGCCTGCCTGAATACATTTCTGTGCTTAACTGCCTACTTATTGACTTTGGCAAGTAGTTTAACCTCTCTGACCCTCAGTTTCATCTTTAAAATGAAGATAATAACGCTTACCTCAGAGTGGCTGTGAGGATTAAATGAAATAATGTATGTAAAGCCTCTATTTGGTGCCTGGCACACACAGTAAGCTACAATTTTTTTAAAAGTTTTTTGTGTTTTTTGTTTTGTTTTGTTTTGTTTTTTTGAGCGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTACAACCTCCGCCTCCTATGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCCCAGGTGATCCACCCACCTCATATCCCAAAGTGGTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAAAAGCTTTTAAATACCATCTGAGAGAACTGGCTTTGAAATACAGTTTATAGATGTCACTGCACATTTTTATAAACTTACCACCTATTGCTCTTTTTGTTTGTTTCCTTTTGAGACCAGGTCTTGCTCTGTCACCCAGACTAGAGTACAGTGGCATGCTTTTGGCTCACTGCAATCTCGGCTTCCGGGGCTCAAGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGAGACCACAGATGCGCACCACCATGCCTGGCTAATTTTTGTTTTGTTTTTGTTGAGACAAAGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGCGATCCTACCACTTCAGCCTCCAAAAGTGCTGGGATTACAGACGTGAACCACCATACCCAGCTCATTTTTTTATTCTCTAGATTTGTAAAATAGTTTCAGTCTATGGAAAAAGTAATCTTGAAAAGAAGGAAGTGGAAACAGAGCAACGTTGCAAAAAGAATTCTGATTTCTGTGTGCCTCCCTCCATTAAAGAATTATAGTTGCTTTCTTGAGGTTATCTTCACTGGAAAAGCTAATGCCGAGGAAAACCTCCTTTGGCATTATATTCTTTAGGAAAAAAGAAATCTCTTTATTTTATAGGATGCTGGTCGTTTACTATATATTGGCCAAAATGAGTGGACACATGTAAATTGTGCTTTGTGGTCAGCGGAAGTGTTTGAAGATGATGACGGATCACTAAAGAATGTGCATATGGCTGTGATCAGGGGCAAGCAGCTGGTAAGACCTTATGGGTAAATTTTATGAAAGAGATTCCCTCTCAGTTTCCAGATATTCTTCCTGTGGGTGAATATGGCCTCCCTGATATTTTTCACAGTGCCATCAGGGTAGTTAGCCAACAAGTATTGATATACATAATTCAACAGATAAAATGATAAATTTTATCTGTTTTCAATTTATCAATAGATAAAATGAATTGTAGGAACTGTAGAATGGGATGAGTCTATAGAGGAGACGGTAAACGTCTTAAAACATATGAAAGTCTGAATAGGACTCTGTTCTTTTTGGATTTTTAGAGATGTGAATTCTGCCAAAAGCCAGGAGCCACCGTGGGTTGCTGTCTCACATCCTGCACCAGCAACTATCACTTCATGTGTTCCCGAGCCAAGAACTGTGTCTTTCTGGATGATAAAAAAGTATATTGCCAACGACATCGGGATTTGATCAAAGGCGAAGTGAGAGAGCTTTAGTTGCTTTAAAAAAAAAAAAAAAGACTTTTTTAGAGCAGTTTTAGGTTCACAGCAAAATTGACTGGAAGGTACAGAGATTTCCCATATGCCCCCTGCACCCACATATGCACAGCCTCCCCCATGATCAGCATCCCCCACCAGAGTGGTGCATTTGTTACAGTGGATAAACCTACACTGGACACATGGTTATCACCCTGACTCCTGTAGTTTACATCAGCATTCACTCTTGGTGTTGTACATTCTGTGGGTTTGGACAAATGTATAATGATGTATATCCACCATTATACCATCATATGGAGTATTTTCGCTGCCTTAAACATCCTCTGTGCTCTGCCTATTCATCCCTGCCTCTCCCCAACCCTGGGCAACCACTGATGTTTTTACTATCTCCATAGTCTTGCCATTTGCAGAGTTTCACATAGTTGGAATCATATAGTACATAGCCTTTTCAGACTGGCTTCTTCTGCATAGCATTTAAGTTTCCTTCAAGTCTTTTCATGGCTTATTTAGTTGCTTTTTGAATTATTTCGAAATGCAAAAGAAAAACAAAAATACAGCAAGATGATAAACTGTTTTGCTTTTCTACTTGGTGTTCCTAGAGGCACCACCTCTTTTGGGAAATACAGAAGTGTCCTGCTAAGTGAAACAGAAGGATGCTTTTGAGATATGCTATGTGCCTTCCACTCTGAGACAGTCAGGATCATAAGTATAATGTGCAAAGGGACAGCCTATTAACAGCTACCATGGGTTTTATTTAAGGTGGTTCCTGAGAATGGATTTGAAGTTTTCAGAAGAGTGTTTGTGGACTTTGAAGGAATCAGCTTGAGAAGGAAGTTTCTCAATGGCTTGGAACCAGAAAATATCCACATGATGATTGGTATGACCTAGCCTTGGTTATTGGGGAAGGCTGTATATATCATTGGGGAAATTTCTGGTCCTCAGTTATAAAATGACCCTCAGCCAGGTGTGGTGTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTGGAGGTTCAGGAGTTGGAGAACAGCCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAAAAAAATTAGCTGGGAGTGGTGGTACATCCCTATAATCCCAGCTACTTGGGAGGCTGAGGCACAGGAATCACTTGAACCCCGGAGGCAGAGGCTGCAGTGAGCTGAGATTGCGCCACTGCATTCCAGCCTGGGCGACAGAGTGAGACTCTCTCAAAAAAATAAAATGACGCTCATAATCTTCTCTAATCGGTTCTTCTTTCCTTGGTCAGGGTCTATGACAATCGACTGCTTAGGAATTCTAAATGATCTCTCCGACTGTGAAGATAAGCTCTTTCCTATTGGATATCAGTAAGTAGCACTATAAAGAGAAGAGAGCAGCCCCACAACCTGAACACACTGAAGCCATGTGCAGGTCATTAAATGTAGAGGCATACCTGTTAGCTACTTTAAACTGCTACTA | TCTAGATGCAGATGATTGACTTCGTGAATCCAATTCACTAAAATTAGATATACTTGGATATCAGAAAGGAATTTTCAGGTCATCCTTAAATGTAATACCATCATTAATTTTGCTTCACTTGAGGTGTTAATGAGGACTTGATATAAATACTCTGGAGTATTGTAACATAGATGATGAGGTAGCGTAACTCTGAACACTTTTTGAAAAGTGGTTATTTTATAGGCTGTGGGCTATGTAAGCTGAATTATTTCTTTTTTCCTTGAAATCAGACATAGTATTGCCAATTTTAACTGGATCTCAAGGTATTGATGGGAGTCTTTTGGATTTCAAGGTACTGATAGGAGTCGAGAAGACAGTCCAGAGCTGAACCCACCCCCAGGCATAGAAGACAATAGACAGTGTGCGTTATGTTTGACTTATGGTGATGACAGTGCTAATGTAAGTACTTTGCAACACAGGGCCCTAGTTAATACATACTCCAAAAGAACTGTTTGTCCTTGTGTCCATACTTGATGACTGGGTGCCATTTATTTAATGAACTTACTTATAACTTACTAATTTATAACTTTTATTTACCTATAACTTATAACTTATTAATTTGTAACTTATTTTTTGTCACTTAGTTCATGGCACTTGGAGTTTTTTAATGACTGATTTTGTTGATTAAAAGGTGACTGATTTGCCTTAAATTAAACCCTTGATGTCTAGTAATTTCTAATGGAAGTTCCTCAAGAATATTTTGTGAAAGTTAATAAAATCTAAGTTGCATATTAAAAAGCTTGTGTTTCATATAGGATAGCAGAATCGTTAAGAGCCCGAGTTCTGCCGCCTGCCTGAATACATTTCTGTGCTTAACTGCCTACTTATTGACTTTGGCAAGTAGTTTAACCTCTCTGACCCTCAGTTTCATCTTTAAAATGAAGATAATAACGCTTACCTCAGAGTGGCTGTGAGGATTAAATGAAATAATGTATGTAAAGCCTCTATTTGGTGCCTGGCACACACAGTAAGCTACAATTTTTTTAAAAGTTTTTTGTGTTTTTTGTTTTGTTTTGTTTTGTTTTTTTGAGCGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTACAACCTCCGCCTCCTATGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCCCAGGTGATCCACCCACCTCATATCCCAAAGTGGTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAAAAGCTTTTAAATACCATCTGAGAGAACTGGCTTTGAAATACAGTTTATAGATGTCACTGCACATTTTTATAAACTTACCACCTATTGCTCTTTTTGTTTGTTTCCTTTTGAGACCAGGTCTTGCTCTGTCACCCAGACTAGAGTACAGTGGCATGCTTTTGGCTCACTGCAATCTCGGCTTCCGGGGCTCAAGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGAGACCACAGATGCGCACCACCATGCCTGGCTAATTTTTGTTTTGTTTTTGTTGAGACAAAGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGCGATCCTACCACTTCAGCCTCCAAAAGTGCTGGGATTACAGACGTGAACCACCATACCCAGCTCATTTTTTTATTCTCTAGATTTGTAAAATAGTTTCAGTCTATGGAAAAAGTAATCTTGAAAAGAAGGAAGTGGAAACAGAGCAACGTTGCAAAAAGAATTCTGATTTCTGTGTGCCTCCCTCCATTAAAGAATTATAGTTGCTTTCTTGAGGTTATCTTCACTGGAAAAGCTAATGCCGAGGAAAACCTCCTTTGGCATTATATTCTTTAGGAAAAAAGAAATCTCTTTATTTTATAGGATGCTGGTCGTTTACTATATATTGGCCAAAATGAGTGGACACGTAAATTGTGCTTTGTGGTCAGCGGAAGTGTTTGAAGATGATGACGGATCACTAAAGAATGTGCATATGGCTGTGATCAGGGGCAAGCAGCTGGTAAGACCTTATGGGTAAATTTTATGAAAGAGATTCCCTCTCAGTTTCCAGATATTCTTCCTGTGGGTGAATATGGCCTCCCTGATATTTTTCACAGTGCCATCAGGGTAGTTAGCCAACAAGTATTGATATACATAATTCAACAGATAAAATGATAAATTTTATCTGTTTTCAATTTATCAATAGATAAAATGAATTGTAGGAACTGTAGAATGGGATGAGTCTATAGAGGAGACGGTAAACGTCTTAAAACATATGAAAGTCTGAATAGGACTCTGTTCTTTTTGGATTTTTAGAGATGTGAATTCTGCCAAAAGCCAGGAGCCACCGTGGGTTGCTGTCTCACATCCTGCACCAGCAACTATCACTTCATGTGTTCCCGAGCCAAGAACTGTGTCTTTCTGGATGATAAAAAAGTATATTGCCAACGACATCGGGATTTGATCAAAGGCGAAGTGAGAGAGCTTTAGTTGCTTTAAAAAAAAAAAAAAAGACTTTTTTAGAGCAGTTTTAGGTTCACAGCAAAATTGACTGGAAGGTACAGAGATTTCCCATATGCCCCCTGCACCCACATATGCACAGCCTCCCCCATGATCAGCATCCCCCACCAGAGTGGTGCATTTGTTACAGTGGATAAACCTACACTGGACACATGGTTATCACCCTGACTCCTGTAGTTTACATCAGCATTCACTCTTGGTGTTGTACATTCTGTGGGTTTGGACAAATGTATAATGATGTATATCCACCATTATACCATCATATGGAGTATTTTCGCTGCCTTAAACATCCTCTGTGCTCTGCCTATTCATCCCTGCCTCTCCCCAACCCTGGGCAACCACTGATGTTTTTACTATCTCCATAGTCTTGCCATTTGCAGAGTTTCACATAGTTGGAATCATATAGTACATAGCCTTTTCAGACTGGCTTCTTCTGCATAGCATTTAAGTTTCCTTCAAGTCTTTTCATGGCTTATTTAGTTGCTTTTTGAATTATTTCGAAATGCAAAAGAAAAACAAAAATACAGCAAGATGATAAACTGTTTTGCTTTTCTACTTGGTGTTCCTAGAGGCACCACCTCTTTTGGGAAATACAGAAGTGTCCTGCTAAGTGAAACAGAAGGATGCTTTTGAGATATGCTATGTGCCTTCCACTCTGAGACAGTCAGGATCATAAGTATAATGTGCAAAGGGACAGCCTATTAACAGCTACCATGGGTTTTATTTAAGGTGGTTCCTGAGAATGGATTTGAAGTTTTCAGAAGAGTGTTTGTGGACTTTGAAGGAATCAGCTTGAGAAGGAAGTTTCTCAATGGCTTGGAACCAGAAAATATCCACATGATGATTGGTATGACCTAGCCTTGGTTATTGGGGAAGGCTGTATATATCATTGGGGAAATTTCTGGTCCTCAGTTATAAAATGACCCTCAGCCAGGTGTGGTGTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTGGAGGTTCAGGAGTTGGAGAACAGCCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAAAAAAATTAGCTGGGAGTGGTGGTACATCCCTATAATCCCAGCTACTTGGGAGGCTGAGGCACAGGAATCACTTGAACCCCGGAGGCAGAGGCTGCAGTGAGCTGAGATTGCGCCACTGCATTCCAGCCTGGGCGACAGAGTGAGACTCTCTCAAAAAAATAAAATGACGCTCATAATCTTCTCTAATCGGTTCTTCTTTCCTTGGTCAGGGTCTATGACAATCGACTGCTTAGGAATTCTAAATGATCTCTCCGACTGTGAAGATAAGCTCTTTCCTATTGGATATCAGTAAGTAGCACTATAAAGAGAAGAGAGCAGCCCCACAACCTGAACACACTGAAGCCATGTGCAGGTCATTAAATGTAGAGGCATACCTGTTAGCTACTTTAAACTGCTACTANN | pathogenic | 188,634 |
The mutation impacting KMT2A (lysine methyltransferase 2A) on chromosome 11 at position 118498058: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases'] | CATCCTTAAATGTAATACCATCATTAATTTTGCTTCACTTGAGGTGTTAATGAGGACTTGATATAAATACTCTGGAGTATTGTAACATAGATGATGAGGTAGCGTAACTCTGAACACTTTTTGAAAAGTGGTTATTTTATAGGCTGTGGGCTATGTAAGCTGAATTATTTCTTTTTTCCTTGAAATCAGACATAGTATTGCCAATTTTAACTGGATCTCAAGGTATTGATGGGAGTCTTTTGGATTTCAAGGTACTGATAGGAGTCGAGAAGACAGTCCAGAGCTGAACCCACCCCCAGGCATAGAAGACAATAGACAGTGTGCGTTATGTTTGACTTATGGTGATGACAGTGCTAATGTAAGTACTTTGCAACACAGGGCCCTAGTTAATACATACTCCAAAAGAACTGTTTGTCCTTGTGTCCATACTTGATGACTGGGTGCCATTTATTTAATGAACTTACTTATAACTTACTAATTTATAACTTTTATTTACCTATAACTTATAACTTATTAATTTGTAACTTATTTTTTGTCACTTAGTTCATGGCACTTGGAGTTTTTTAATGACTGATTTTGTTGATTAAAAGGTGACTGATTTGCCTTAAATTAAACCCTTGATGTCTAGTAATTTCTAATGGAAGTTCCTCAAGAATATTTTGTGAAAGTTAATAAAATCTAAGTTGCATATTAAAAAGCTTGTGTTTCATATAGGATAGCAGAATCGTTAAGAGCCCGAGTTCTGCCGCCTGCCTGAATACATTTCTGTGCTTAACTGCCTACTTATTGACTTTGGCAAGTAGTTTAACCTCTCTGACCCTCAGTTTCATCTTTAAAATGAAGATAATAACGCTTACCTCAGAGTGGCTGTGAGGATTAAATGAAATAATGTATGTAAAGCCTCTATTTGGTGCCTGGCACACACAGTAAGCTACAATTTTTTTAAAAGTTTTTTGTGTTTTTTGTTTTGTTTTGTTTTGTTTTTTTGAGCGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTACAACCTCCGCCTCCTATGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCCCAGGTGATCCACCCACCTCATATCCCAAAGTGGTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAAAAGCTTTTAAATACCATCTGAGAGAACTGGCTTTGAAATACAGTTTATAGATGTCACTGCACATTTTTATAAACTTACCACCTATTGCTCTTTTTGTTTGTTTCCTTTTGAGACCAGGTCTTGCTCTGTCACCCAGACTAGAGTACAGTGGCATGCTTTTGGCTCACTGCAATCTCGGCTTCCGGGGCTCAAGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGAGACCACAGATGCGCACCACCATGCCTGGCTAATTTTTGTTTTGTTTTTGTTGAGACAAAGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGCGATCCTACCACTTCAGCCTCCAAAAGTGCTGGGATTACAGACGTGAACCACCATACCCAGCTCATTTTTTTATTCTCTAGATTTGTAAAATAGTTTCAGTCTATGGAAAAAGTAATCTTGAAAAGAAGGAAGTGGAAACAGAGCAACGTTGCAAAAAGAATTCTGATTTCTGTGTGCCTCCCTCCATTAAAGAATTATAGTTGCTTTCTTGAGGTTATCTTCACTGGAAAAGCTAATGCCGAGGAAAACCTCCTTTGGCATTATATTCTTTAGGAAAAAAGAAATCTCTTTATTTTATAGGATGCTGGTCGTTTACTATATATTGGCCAAAATGAGTGGACACATGTAAATTGTGCTTTGTGGTCAGCGGAAGTGTTTGAAGATGATGACGGATCACTAAAGAATGTGCATATGGCTGTGATCAGGGGCAAGCAGCTGGTAAGACCTTATGGGTAAATTTTATGAAAGAGATTCCCTCTCAGTTTCCAGATATTCTTCCTGTGGGTGAATATGGCCTCCCTGATATTTTTCACAGTGCCATCAGGGTAGTTAGCCAACAAGTATTGATATACATAATTCAACAGATAAAATGATAAATTTTATCTGTTTTCAATTTATCAATAGATAAAATGAATTGTAGGAACTGTAGAATGGGATGAGTCTATAGAGGAGACGGTAAACGTCTTAAAACATATGAAAGTCTGAATAGGACTCTGTTCTTTTTGGATTTTTAGAGATGTGAATTCTGCCAAAAGCCAGGAGCCACCGTGGGTTGCTGTCTCACATCCTGCACCAGCAACTATCACTTCATGTGTTCCCGAGCCAAGAACTGTGTCTTTCTGGATGATAAAAAAGTATATTGCCAACGACATCGGGATTTGATCAAAGGCGAAGTGAGAGAGCTTTAGTTGCTTTAAAAAAAAAAAAAAAGACTTTTTTAGAGCAGTTTTAGGTTCACAGCAAAATTGACTGGAAGGTACAGAGATTTCCCATATGCCCCCTGCACCCACATATGCACAGCCTCCCCCATGATCAGCATCCCCCACCAGAGTGGTGCATTTGTTACAGTGGATAAACCTACACTGGACACATGGTTATCACCCTGACTCCTGTAGTTTACATCAGCATTCACTCTTGGTGTTGTACATTCTGTGGGTTTGGACAAATGTATAATGATGTATATCCACCATTATACCATCATATGGAGTATTTTCGCTGCCTTAAACATCCTCTGTGCTCTGCCTATTCATCCCTGCCTCTCCCCAACCCTGGGCAACCACTGATGTTTTTACTATCTCCATAGTCTTGCCATTTGCAGAGTTTCACATAGTTGGAATCATATAGTACATAGCCTTTTCAGACTGGCTTCTTCTGCATAGCATTTAAGTTTCCTTCAAGTCTTTTCATGGCTTATTTAGTTGCTTTTTGAATTATTTCGAAATGCAAAAGAAAAACAAAAATACAGCAAGATGATAAACTGTTTTGCTTTTCTACTTGGTGTTCCTAGAGGCACCACCTCTTTTGGGAAATACAGAAGTGTCCTGCTAAGTGAAACAGAAGGATGCTTTTGAGATATGCTATGTGCCTTCCACTCTGAGACAGTCAGGATCATAAGTATAATGTGCAAAGGGACAGCCTATTAACAGCTACCATGGGTTTTATTTAAGGTGGTTCCTGAGAATGGATTTGAAGTTTTCAGAAGAGTGTTTGTGGACTTTGAAGGAATCAGCTTGAGAAGGAAGTTTCTCAATGGCTTGGAACCAGAAAATATCCACATGATGATTGGTATGACCTAGCCTTGGTTATTGGGGAAGGCTGTATATATCATTGGGGAAATTTCTGGTCCTCAGTTATAAAATGACCCTCAGCCAGGTGTGGTGTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTGGAGGTTCAGGAGTTGGAGAACAGCCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAAAAAAATTAGCTGGGAGTGGTGGTACATCCCTATAATCCCAGCTACTTGGGAGGCTGAGGCACAGGAATCACTTGAACCCCGGAGGCAGAGGCTGCAGTGAGCTGAGATTGCGCCACTGCATTCCAGCCTGGGCGACAGAGTGAGACTCTCTCAAAAAAATAAAATGACGCTCATAATCTTCTCTAATCGGTTCTTCTTTCCTTGGTCAGGGTCTATGACAATCGACTGCTTAGGAATTCTAAATGATCTCTCCGACTGTGAAGATAAGCTCTTTCCTATTGGATATCAGTAAGTAGCACTATAAAGAGAAGAGAGCAGCCCCACAACCTGAACACACTGAAGCCATGTGCAGGTCATTAAATGTAGAGGCATACCTGTTAGCTACTTTAAACTGCTACTAAAAATTAATCACTTATTTTGCTAGTTCTCGGATTCGTCTGCTTGTAGATTGGGACTATGTTAGCGGAATCCAGTTATAGA | CATCCTTAAATGTAATACCATCATTAATTTTGCTTCACTTGAGGTGTTAATGAGGACTTGATATAAATACTCTGGAGTATTGTAACATAGATGATGAGGTAGCGTAACTCTGAACACTTTTTGAAAAGTGGTTATTTTATAGGCTGTGGGCTATGTAAGCTGAATTATTTCTTTTTTCCTTGAAATCAGACATAGTATTGCCAATTTTAACTGGATCTCAAGGTATTGATGGGAGTCTTTTGGATTTCAAGGTACTGATAGGAGTCGAGAAGACAGTCCAGAGCTGAACCCACCCCCAGGCATAGAAGACAATAGACAGTGTGCGTTATGTTTGACTTATGGTGATGACAGTGCTAATGTAAGTACTTTGCAACACAGGGCCCTAGTTAATACATACTCCAAAAGAACTGTTTGTCCTTGTGTCCATACTTGATGACTGGGTGCCATTTATTTAATGAACTTACTTATAACTTACTAATTTATAACTTTTATTTACCTATAACTTATAACTTATTAATTTGTAACTTATTTTTTGTCACTTAGTTCATGGCACTTGGAGTTTTTTAATGACTGATTTTGTTGATTAAAAGGTGACTGATTTGCCTTAAATTAAACCCTTGATGTCTAGTAATTTCTAATGGAAGTTCCTCAAGAATATTTTGTGAAAGTTAATAAAATCTAAGTTGCATATTAAAAAGCTTGTGTTTCATATAGGATAGCAGAATCGTTAAGAGCCCGAGTTCTGCCGCCTGCCTGAATACATTTCTGTGCTTAACTGCCTACTTATTGACTTTGGCAAGTAGTTTAACCTCTCTGACCCTCAGTTTCATCTTTAAAATGAAGATAATAACGCTTACCTCAGAGTGGCTGTGAGGATTAAATGAAATAATGTATGTAAAGCCTCTATTTGGTGCCTGGCACACACAGTAAGCTACAATTTTTTTAAAAGTTTTTTGTGTTTTTTGTTTTGTTTTGTTTTGTTTTTTTGAGCGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTACAACCTCCGCCTCCTATGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCCCAGGTGATCCACCCACCTCATATCCCAAAGTGGTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAAAAGCTTTTAAATACCATCTGAGAGAACTGGCTTTGAAATACAGTTTATAGATGTCACTGCACATTTTTATAAACTTACCACCTATTGCTCTTTTTGTTTGTTTCCTTTTGAGACCAGGTCTTGCTCTGTCACCCAGACTAGAGTACAGTGGCATGCTTTTGGCTCACTGCAATCTCGGCTTCCGGGGCTCAAGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGAGACCACAGATGCGCACCACCATGCCTGGCTAATTTTTGTTTTGTTTTTGTTGAGACAAAGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGCGATCCTACCACTTCAGCCTCCAAAAGTGCTGGGATTACAGACGTGAACCACCATACCCAGCTCATTTTTTTATTCTCTAGATTTGTAAAATAGTTTCAGTCTATGGAAAAAGTAATCTTGAAAAGAAGGAAGTGGAAACAGAGCAACGTTGCAAAAAGAATTCTGATTTCTGTGTGCCTCCCTCCATTAAAGAATTATAGTTGCTTTCTTGAGGTTATCTTCACTGGAAAAGCTAATGCCGAGGAAAACCTCCTTTGGCATTATATTCTTTAGGAAAAAAGAAATCTCTTTATTTTATAGGATGCTGGTCGTTTACTATATATTGGCCAAAATGAGTGGACACATGTAAATTGTGCTTTGTGGTCAGCGGAAGTGTTTGAAGATGATGACGGATCACTAAAGAATGTGCATATGGCTGTGATCGGGGCAAGCAGCTGGTAAGACCTTATGGGTAAATTTTATGAAAGAGATTCCCTCTCAGTTTCCAGATATTCTTCCTGTGGGTGAATATGGCCTCCCTGATATTTTTCACAGTGCCATCAGGGTAGTTAGCCAACAAGTATTGATATACATAATTCAACAGATAAAATGATAAATTTTATCTGTTTTCAATTTATCAATAGATAAAATGAATTGTAGGAACTGTAGAATGGGATGAGTCTATAGAGGAGACGGTAAACGTCTTAAAACATATGAAAGTCTGAATAGGACTCTGTTCTTTTTGGATTTTTAGAGATGTGAATTCTGCCAAAAGCCAGGAGCCACCGTGGGTTGCTGTCTCACATCCTGCACCAGCAACTATCACTTCATGTGTTCCCGAGCCAAGAACTGTGTCTTTCTGGATGATAAAAAAGTATATTGCCAACGACATCGGGATTTGATCAAAGGCGAAGTGAGAGAGCTTTAGTTGCTTTAAAAAAAAAAAAAAAGACTTTTTTAGAGCAGTTTTAGGTTCACAGCAAAATTGACTGGAAGGTACAGAGATTTCCCATATGCCCCCTGCACCCACATATGCACAGCCTCCCCCATGATCAGCATCCCCCACCAGAGTGGTGCATTTGTTACAGTGGATAAACCTACACTGGACACATGGTTATCACCCTGACTCCTGTAGTTTACATCAGCATTCACTCTTGGTGTTGTACATTCTGTGGGTTTGGACAAATGTATAATGATGTATATCCACCATTATACCATCATATGGAGTATTTTCGCTGCCTTAAACATCCTCTGTGCTCTGCCTATTCATCCCTGCCTCTCCCCAACCCTGGGCAACCACTGATGTTTTTACTATCTCCATAGTCTTGCCATTTGCAGAGTTTCACATAGTTGGAATCATATAGTACATAGCCTTTTCAGACTGGCTTCTTCTGCATAGCATTTAAGTTTCCTTCAAGTCTTTTCATGGCTTATTTAGTTGCTTTTTGAATTATTTCGAAATGCAAAAGAAAAACAAAAATACAGCAAGATGATAAACTGTTTTGCTTTTCTACTTGGTGTTCCTAGAGGCACCACCTCTTTTGGGAAATACAGAAGTGTCCTGCTAAGTGAAACAGAAGGATGCTTTTGAGATATGCTATGTGCCTTCCACTCTGAGACAGTCAGGATCATAAGTATAATGTGCAAAGGGACAGCCTATTAACAGCTACCATGGGTTTTATTTAAGGTGGTTCCTGAGAATGGATTTGAAGTTTTCAGAAGAGTGTTTGTGGACTTTGAAGGAATCAGCTTGAGAAGGAAGTTTCTCAATGGCTTGGAACCAGAAAATATCCACATGATGATTGGTATGACCTAGCCTTGGTTATTGGGGAAGGCTGTATATATCATTGGGGAAATTTCTGGTCCTCAGTTATAAAATGACCCTCAGCCAGGTGTGGTGTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTGGAGGTTCAGGAGTTGGAGAACAGCCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAAAAAAATTAGCTGGGAGTGGTGGTACATCCCTATAATCCCAGCTACTTGGGAGGCTGAGGCACAGGAATCACTTGAACCCCGGAGGCAGAGGCTGCAGTGAGCTGAGATTGCGCCACTGCATTCCAGCCTGGGCGACAGAGTGAGACTCTCTCAAAAAAATAAAATGACGCTCATAATCTTCTCTAATCGGTTCTTCTTTCCTTGGTCAGGGTCTATGACAATCGACTGCTTAGGAATTCTAAATGATCTCTCCGACTGTGAAGATAAGCTCTTTCCTATTGGATATCAGTAAGTAGCACTATAAAGAGAAGAGAGCAGCCCCACAACCTGAACACACTGAAGCCATGTGCAGGTCATTAAATGTAGAGGCATACCTGTTAGCTACTTTAAACTGCTACTAAAAATTAATCACTTATTTTGCTAGTTCTCGGATTCGTCTGCTTGTAGATTGGGACTATGTTAGCGGAATCCAGTTATAGAN | pathogenic | 188,637 |
Variant in gene KMT2A (lysine methyltransferase 2A), located at chromosome 11 position 118498550: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TTACCTATAACTTATAACTTATTAATTTGTAACTTATTTTTTGTCACTTAGTTCATGGCACTTGGAGTTTTTTAATGACTGATTTTGTTGATTAAAAGGTGACTGATTTGCCTTAAATTAAACCCTTGATGTCTAGTAATTTCTAATGGAAGTTCCTCAAGAATATTTTGTGAAAGTTAATAAAATCTAAGTTGCATATTAAAAAGCTTGTGTTTCATATAGGATAGCAGAATCGTTAAGAGCCCGAGTTCTGCCGCCTGCCTGAATACATTTCTGTGCTTAACTGCCTACTTATTGACTTTGGCAAGTAGTTTAACCTCTCTGACCCTCAGTTTCATCTTTAAAATGAAGATAATAACGCTTACCTCAGAGTGGCTGTGAGGATTAAATGAAATAATGTATGTAAAGCCTCTATTTGGTGCCTGGCACACACAGTAAGCTACAATTTTTTTAAAAGTTTTTTGTGTTTTTTGTTTTGTTTTGTTTTGTTTTTTTGAGCGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTACAACCTCCGCCTCCTATGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCCCAGGTGATCCACCCACCTCATATCCCAAAGTGGTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAAAAGCTTTTAAATACCATCTGAGAGAACTGGCTTTGAAATACAGTTTATAGATGTCACTGCACATTTTTATAAACTTACCACCTATTGCTCTTTTTGTTTGTTTCCTTTTGAGACCAGGTCTTGCTCTGTCACCCAGACTAGAGTACAGTGGCATGCTTTTGGCTCACTGCAATCTCGGCTTCCGGGGCTCAAGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGAGACCACAGATGCGCACCACCATGCCTGGCTAATTTTTGTTTTGTTTTTGTTGAGACAAAGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGCGATCCTACCACTTCAGCCTCCAAAAGTGCTGGGATTACAGACGTGAACCACCATACCCAGCTCATTTTTTTATTCTCTAGATTTGTAAAATAGTTTCAGTCTATGGAAAAAGTAATCTTGAAAAGAAGGAAGTGGAAACAGAGCAACGTTGCAAAAAGAATTCTGATTTCTGTGTGCCTCCCTCCATTAAAGAATTATAGTTGCTTTCTTGAGGTTATCTTCACTGGAAAAGCTAATGCCGAGGAAAACCTCCTTTGGCATTATATTCTTTAGGAAAAAAGAAATCTCTTTATTTTATAGGATGCTGGTCGTTTACTATATATTGGCCAAAATGAGTGGACACATGTAAATTGTGCTTTGTGGTCAGCGGAAGTGTTTGAAGATGATGACGGATCACTAAAGAATGTGCATATGGCTGTGATCAGGGGCAAGCAGCTGGTAAGACCTTATGGGTAAATTTTATGAAAGAGATTCCCTCTCAGTTTCCAGATATTCTTCCTGTGGGTGAATATGGCCTCCCTGATATTTTTCACAGTGCCATCAGGGTAGTTAGCCAACAAGTATTGATATACATAATTCAACAGATAAAATGATAAATTTTATCTGTTTTCAATTTATCAATAGATAAAATGAATTGTAGGAACTGTAGAATGGGATGAGTCTATAGAGGAGACGGTAAACGTCTTAAAACATATGAAAGTCTGAATAGGACTCTGTTCTTTTTGGATTTTTAGAGATGTGAATTCTGCCAAAAGCCAGGAGCCACCGTGGGTTGCTGTCTCACATCCTGCACCAGCAACTATCACTTCATGTGTTCCCGAGCCAAGAACTGTGTCTTTCTGGATGATAAAAAAGTATATTGCCAACGACATCGGGATTTGATCAAAGGCGAAGTGAGAGAGCTTTAGTTGCTTTAAAAAAAAAAAAAAAGACTTTTTTAGAGCAGTTTTAGGTTCACAGCAAAATTGACTGGAAGGTACAGAGATTTCCCATATGCCCCCTGCACCCACATATGCACAGCCTCCCCCATGATCAGCATCCCCCACCAGAGTGGTGCATTTGTTACAGTGGATAAACCTACACTGGACACATGGTTATCACCCTGACTCCTGTAGTTTACATCAGCATTCACTCTTGGTGTTGTACATTCTGTGGGTTTGGACAAATGTATAATGATGTATATCCACCATTATACCATCATATGGAGTATTTTCGCTGCCTTAAACATCCTCTGTGCTCTGCCTATTCATCCCTGCCTCTCCCCAACCCTGGGCAACCACTGATGTTTTTACTATCTCCATAGTCTTGCCATTTGCAGAGTTTCACATAGTTGGAATCATATAGTACATAGCCTTTTCAGACTGGCTTCTTCTGCATAGCATTTAAGTTTCCTTCAAGTCTTTTCATGGCTTATTTAGTTGCTTTTTGAATTATTTCGAAATGCAAAAGAAAAACAAAAATACAGCAAGATGATAAACTGTTTTGCTTTTCTACTTGGTGTTCCTAGAGGCACCACCTCTTTTGGGAAATACAGAAGTGTCCTGCTAAGTGAAACAGAAGGATGCTTTTGAGATATGCTATGTGCCTTCCACTCTGAGACAGTCAGGATCATAAGTATAATGTGCAAAGGGACAGCCTATTAACAGCTACCATGGGTTTTATTTAAGGTGGTTCCTGAGAATGGATTTGAAGTTTTCAGAAGAGTGTTTGTGGACTTTGAAGGAATCAGCTTGAGAAGGAAGTTTCTCAATGGCTTGGAACCAGAAAATATCCACATGATGATTGGTATGACCTAGCCTTGGTTATTGGGGAAGGCTGTATATATCATTGGGGAAATTTCTGGTCCTCAGTTATAAAATGACCCTCAGCCAGGTGTGGTGTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTGGAGGTTCAGGAGTTGGAGAACAGCCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAAAAAAATTAGCTGGGAGTGGTGGTACATCCCTATAATCCCAGCTACTTGGGAGGCTGAGGCACAGGAATCACTTGAACCCCGGAGGCAGAGGCTGCAGTGAGCTGAGATTGCGCCACTGCATTCCAGCCTGGGCGACAGAGTGAGACTCTCTCAAAAAAATAAAATGACGCTCATAATCTTCTCTAATCGGTTCTTCTTTCCTTGGTCAGGGTCTATGACAATCGACTGCTTAGGAATTCTAAATGATCTCTCCGACTGTGAAGATAAGCTCTTTCCTATTGGATATCAGTAAGTAGCACTATAAAGAGAAGAGAGCAGCCCCACAACCTGAACACACTGAAGCCATGTGCAGGTCATTAAATGTAGAGGCATACCTGTTAGCTACTTTAAACTGCTACTAAAAATTAATCACTTATTTTGCTAGTTCTCGGATTCGTCTGCTTGTAGATTGGGACTATGTTAGCGGAATCCAGTTATAGAAGGAAAGTATTATTGACATAATTTCAGAATTACTTAAAAATAAAACCTTAGTAGAAAACACAAGGTCAGTCTCTTAAGATTCCTCCAAATTCCATTCATCTCCATGCAGAAGTGCAGATTGTTTTTATGGATAAAACAGCTCATGCCCTGTTCCCAACTTTACAGTTTATAAGTCCTTCTAAAACTATAAATCCACACAATAATGATCAAATTTTTCAATAAGAATTTATAATCTTACCTATATGAAGTAAGTTGTTAAAATGTCTAACAAGCTAACAATATAAGTTCAAAATTCCCCTTCTACCACTCCCGCGTTGGAGTCTCATTTTGCAATATATGCTCCAACTTACTCTGTATTCCTATTCCTATGACACAGTCTGTGCTCCACATTTAGCTGGCAGCTTTTCACACAAACCAGATTCCACTAGCATTCAGCAGATTTGAAGCAGTTACATTTCTCTTGTCTCATGGGGCTCTTCTCCCAAAGGAAAC | TTACCTATAACTTATAACTTATTAATTTGTAACTTATTTTTTGTCACTTAGTTCATGGCACTTGGAGTTTTTTAATGACTGATTTTGTTGATTAAAAGGTGACTGATTTGCCTTAAATTAAACCCTTGATGTCTAGTAATTTCTAATGGAAGTTCCTCAAGAATATTTTGTGAAAGTTAATAAAATCTAAGTTGCATATTAAAAAGCTTGTGTTTCATATAGGATAGCAGAATCGTTAAGAGCCCGAGTTCTGCCGCCTGCCTGAATACATTTCTGTGCTTAACTGCCTACTTATTGACTTTGGCAAGTAGTTTAACCTCTCTGACCCTCAGTTTCATCTTTAAAATGAAGATAATAACGCTTACCTCAGAGTGGCTGTGAGGATTAAATGAAATAATGTATGTAAAGCCTCTATTTGGTGCCTGGCACACACAGTAAGCTACAATTTTTTTAAAAGTTTTTTGTGTTTTTTGTTTTGTTTTGTTTTGTTTTTTTGAGCGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTACAACCTCCGCCTCCTATGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCCCAGGTGATCCACCCACCTCATATCCCAAAGTGGTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCAAAAGCTTTTAAATACCATCTGAGAGAACTGGCTTTGAAATACAGTTTATAGATGTCACTGCACATTTTTATAAACTTACCACCTATTGCTCTTTTTGTTTGTTTCCTTTTGAGACCAGGTCTTGCTCTGTCACCCAGACTAGAGTACAGTGGCATGCTTTTGGCTCACTGCAATCTCGGCTTCCGGGGCTCAAGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGAGACCACAGATGCGCACCACCATGCCTGGCTAATTTTTGTTTTGTTTTTGTTGAGACAAAGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGCGATCCTACCACTTCAGCCTCCAAAAGTGCTGGGATTACAGACGTGAACCACCATACCCAGCTCATTTTTTTATTCTCTAGATTTGTAAAATAGTTTCAGTCTATGGAAAAAGTAATCTTGAAAAGAAGGAAGTGGAAACAGAGCAACGTTGCAAAAAGAATTCTGATTTCTGTGTGCCTCCCTCCATTAAAGAATTATAGTTGCTTTCTTGAGGTTATCTTCACTGGAAAAGCTAATGCCGAGGAAAACCTCCTTTGGCATTATATTCTTTAGGAAAAAAGAAATCTCTTTATTTTATAGGATGCTGGTCGTTTACTATATATTGGCCAAAATGAGTGGACACATGTAAATTGTGCTTTGTGGTCAGCGGAAGTGTTTGAAGATGATGACGGATCACTAAAGAATGTGCATATGGCTGTGATCAGGGGCAAGCAGCTGGTAAGACCTTATGGGTAAATTTTATGAAAGAGATTCCCTCTCAGTTTCCAGATATTCTTCCTGTGGGTGAATATGGCCTCCCTGATATTTTTCACAGTGCCATCAGGGTAGTTAGCCAACAAGTATTGATATACATAATTCAACAGATAAAATGATAAATTTTATCTGTTTTCAATTTATCAATAGATAAAATGAATTGTAGGAACTGTAGAATGGGATGAGTCTATAGAGGAGACGGTAAACGTCTTAAAACATATGAAAGTCTGAATAGGACTCTGTTCTTTTTGGATTTTTAGAGATGTGAATTCTGCCAAAAGCCAGGAGCCACCGTGGGTTGCTGTCTCACATCCTGCACCAGCAACTATCACTTCATGTGTTCCCGAGCCAAGAACTGTGTCTTTCTGGATGATAAAAAAGTATATTGCCAACGACATCGGGATTTGATCAAAGGCGAAGTGAGAGAGCTTTAGTTGCTTTAAAAAAAAAAAAAAGACTTTTTTAGAGCAGTTTTAGGTTCACAGCAAAATTGACTGGAAGGTACAGAGATTTCCCATATGCCCCCTGCACCCACATATGCACAGCCTCCCCCATGATCAGCATCCCCCACCAGAGTGGTGCATTTGTTACAGTGGATAAACCTACACTGGACACATGGTTATCACCCTGACTCCTGTAGTTTACATCAGCATTCACTCTTGGTGTTGTACATTCTGTGGGTTTGGACAAATGTATAATGATGTATATCCACCATTATACCATCATATGGAGTATTTTCGCTGCCTTAAACATCCTCTGTGCTCTGCCTATTCATCCCTGCCTCTCCCCAACCCTGGGCAACCACTGATGTTTTTACTATCTCCATAGTCTTGCCATTTGCAGAGTTTCACATAGTTGGAATCATATAGTACATAGCCTTTTCAGACTGGCTTCTTCTGCATAGCATTTAAGTTTCCTTCAAGTCTTTTCATGGCTTATTTAGTTGCTTTTTGAATTATTTCGAAATGCAAAAGAAAAACAAAAATACAGCAAGATGATAAACTGTTTTGCTTTTCTACTTGGTGTTCCTAGAGGCACCACCTCTTTTGGGAAATACAGAAGTGTCCTGCTAAGTGAAACAGAAGGATGCTTTTGAGATATGCTATGTGCCTTCCACTCTGAGACAGTCAGGATCATAAGTATAATGTGCAAAGGGACAGCCTATTAACAGCTACCATGGGTTTTATTTAAGGTGGTTCCTGAGAATGGATTTGAAGTTTTCAGAAGAGTGTTTGTGGACTTTGAAGGAATCAGCTTGAGAAGGAAGTTTCTCAATGGCTTGGAACCAGAAAATATCCACATGATGATTGGTATGACCTAGCCTTGGTTATTGGGGAAGGCTGTATATATCATTGGGGAAATTTCTGGTCCTCAGTTATAAAATGACCCTCAGCCAGGTGTGGTGTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTGGAGGTTCAGGAGTTGGAGAACAGCCTGGCCAATGTGGTGAAACCCTGTCTCTACTAAAAAAAATTAGCTGGGAGTGGTGGTACATCCCTATAATCCCAGCTACTTGGGAGGCTGAGGCACAGGAATCACTTGAACCCCGGAGGCAGAGGCTGCAGTGAGCTGAGATTGCGCCACTGCATTCCAGCCTGGGCGACAGAGTGAGACTCTCTCAAAAAAATAAAATGACGCTCATAATCTTCTCTAATCGGTTCTTCTTTCCTTGGTCAGGGTCTATGACAATCGACTGCTTAGGAATTCTAAATGATCTCTCCGACTGTGAAGATAAGCTCTTTCCTATTGGATATCAGTAAGTAGCACTATAAAGAGAAGAGAGCAGCCCCACAACCTGAACACACTGAAGCCATGTGCAGGTCATTAAATGTAGAGGCATACCTGTTAGCTACTTTAAACTGCTACTAAAAATTAATCACTTATTTTGCTAGTTCTCGGATTCGTCTGCTTGTAGATTGGGACTATGTTAGCGGAATCCAGTTATAGAAGGAAAGTATTATTGACATAATTTCAGAATTACTTAAAAATAAAACCTTAGTAGAAAACACAAGGTCAGTCTCTTAAGATTCCTCCAAATTCCATTCATCTCCATGCAGAAGTGCAGATTGTTTTTATGGATAAAACAGCTCATGCCCTGTTCCCAACTTTACAGTTTATAAGTCCTTCTAAAACTATAAATCCACACAATAATGATCAAATTTTTCAATAAGAATTTATAATCTTACCTATATGAAGTAAGTTGTTAAAATGTCTAACAAGCTAACAATATAAGTTCAAAATTCCCCTTCTACCACTCCCGCGTTGGAGTCTCATTTTGCAATATATGCTCCAACTTACTCTGTATTCCTATTCCTATGACACAGTCTGTGCTCCACATTTAGCTGGCAGCTTTTCACACAAACCAGATTCCACTAGCATTCAGCAGATTTGAAGCAGTTACATTTCTCTTGTCTCATGGGGCTCTTCTCCCAAAGGAAACN | benign | 188,641 |
Does the chromosome 11 mutation at position 118503456 within gene KMT2A (lysine methyltransferase 2A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Wiedemann-Steiner_syndrome'] | GCAGTCAGCCAAGATCACGCCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTGTGTCTCAAAGAAAAAAAAAAAAAGATGTGATGGAACTTGAATTCGATTCAGGGAGTACTATGATTGAAAGCTGGGGGAAAAGTCATTTACTTGGGAAGTCTCATTTGCTTCTAGTTTTACATTTACCTGATAGCTGACTTTTTATTGGTTAATTTGTTTGATATTTTAATTGGGCCTTTTTAGTTAAGAGTTTTTATTTCCTGCCACAGAAAGTTCATCAAAAGAGAGTCAAAACACAGCTGAAATTATAAGTCCTCCATCACCAGACCGACCTCCTCATTCACAAACCTCTGGCTCCTGTTATTATCATGTCATCTCAAAGGTCCCCAGGATTCGAACACCCAGTTATTCTCCAACACAGAGATCCCCTGGCTGTCGACCGTTGCCTTCTGCAGGTAAAAGACTTTATTGACCTACTTGACCTAAGAAGATCAGCCCAAAGACTAATTTGTAATTCTTTCAGGCAACTTTATCTTGGTGACTTTTACTGATTGAAAATGTAGATTCCGGGTGGGTGAGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAATTCAAAAATTAGCCAGGTGTGGCGGTGCATGCCTGTAATCCCAGCTACCCAGGAGGCTAAGGCAGGAGAATCGCTGGAACCCAGGAGGTGGAGGTTGCAGTAAGCCGAGATCGCACCACTGCACTCCAGCTTGGGTGACAGAGTGAGACACTGTCTCAAAAAAGTAATAATAAATAAATAGAAAATGTAGATTTCCAGTTACCTATAAATATATATATATATAGTCAAATCATTGAAACCAGTGACTTCTACACATTTGTTCTATCTACAATAGCATTTATTACTTTTTCTCTCTTGTTTAGGAAGTCCTACCCCAACCACTCATGAAATAGTCACAGTAGGTGATCCTTTACTCTCCTCTGGACTTCGAAGCATTGGCTCCAGGCGTCACAGTACCTCTTCCTTATCACCCCAGCGGTCCAAACTCCGGATAATGTCTCCAATGAGAACTGGGAATACTTACTCTAGGAATAATGTTTCCTCAGTCTCCACCACCGGGACCGCTACTGATCTTGAATCAAGTGCCAAAGTAGTTGATCATGTCTTAGGGCCACTGAATTCAAGTACTAGTTTAGGGCAAAACACTTCCACCTCTTCAAATTTGCAAAGGACAGTGGTTACTGTAGGCAATAAAAACAGTCACTTGGATGGATCTTCATCTTCAGAAATGAAGCAGTCCAGTGCTTCAGACTTGGTGTCCAAGAGCTCCTCTTTAAAGGGAGAGAAGACCAAAGTGCTGAGTTCCAAGAGCTCAGAGGGATCTGCACATAATGTGGCTTACCCTGGAATTCCTAAACTGGCCCCACAGGTTCATAACACAACATCTAGAGAACTGAATGTTAGTAAAATCGGCTCCTTTGCTGAACCCTCTTCAGTGTCGTTTTCTTCTAAAGAGGCCCTCTCCTTCCCACACCTCCATTTGAGAGGGCAAAGGAATGATCGAGACCAACACACAGATTCTACCCAATCAGCAAACTCCTCTCCAGATGAAGATACTGAAGTCAAAACCTTGAAGCTATCTGGAATGAGCAACAGATCATCCATTATCAACGAACATATGGGATCTAGTTCCAGAGATAGGAGACAGAAAGGGAAAAAATCCTGTAAAGAAACTTTCAAAGAAAAGCATTCCAGTAAATCTTTTTTGGAACCTGGTCAGGTGACAACTGGTGAGGAAGGAAACTTGAAGCCAGAGTTTATGGATGAGGTTTTGACTCCTGAGTATATGGGCCAACGACCATGTAACAATGTTTCTTCTGATAAGATTGGTGATAAAGGCCTTTCTATGCCAGGAGTCCCCAAAGCTCCACCCATGCAAGTAGAAGGATCTGCCAAGGAATTACAGGCACCACGGAAACGCACAGTCAAAGTGACACTGACACCTCTAAAAATGGAAAATGAGAGTCAATCCAAAAATGCCCTGAAAGAAAGTAGTCCTGCTTCCCCTTTGCAAATAGAGTCAACATCTCCCACAGAACCAATTTCAGCCTCTGAAAATCCAGGAGATGGTCCAGTGGCCCAACCAAGCCCCAATAATACCTCATGCCAGGATTCTCAAAGTAACAACTATCAGAATCTTCCAGTACAGGACAGAAACCTAATGCTTCCAGATGGCCCCAAACCTCAGGAGGATGGCTCTTTTAAAAGGAGGTATCCCCGTCGCAGTGCCCGTGCACGTTCTAACATGTTTTTTGGGCTTACCCCACTCTATGGAGTAAGATCCTATGGTGAAGAAGACATTCCATTCTACAGCAGCTCAACTGGGAAGAAGCGAGGCAAGAGATCAGCTGAAGGACAGGTGGATGGGGCCGATGACTTAAGCACTTCAGATGAAGACGACTTATACTATTACAACTTCACTAGAACAGTGATTTCTTCAGGTGGAGAGGAACGACTGGCATCCCATAATTTATTTCGGGAGGAGGAACAGTGTGATCTTCCAAAAATCTCACAGTTGGATGGTGTTGATGATGGGACAGAGAGTGATACTAGTGTCACAGCCACAACAAGGAAAAGCAGCCAGATTCCAAAAAGAAATGGTAAAGAAAATGGAACAGAGAACTTAAAGATTGATAGACCTGAAGATGCTGGGGAGAAAGAACATGTCACTAAGAGTTCTGTTGGCCACAAAAATGAGCCAAAGATGGATAACTGCCATTCTGTAAGCAGAGTTAAAACACAGGGACAAGATTCCTTGGAAGCTCAGCTCAGCTCATTGGAGTCAAGCCGCAGAGTCCACACAAGTACCCCCTCCGACAAAAATTTACTGGACACCTATAATACTGAGCTCCTGAAATCAGATTCAGACAATAACAACAGTGATGACTGTGGGAATATCCTGCCTTCAGACATTATGGACTTTGTACTAAAGAATACTCCATCCATGCAGGCTTTGGGTGAGAGCCCAGAGTCATCTTCATCAGAACTCCTGAATCTTGGTGAAGGATTGGGTCTTGACAGTAATCGTGAAAAAGACATGGGTCTTTTTGAAGTATTTTCTCAGCAGCTGCCTACAACAGAACCTGTGGATAGTAGTGTCTCTTCCTCTATCTCAGCAGAGGAACAGTTTGAGTTGCCTCTAGAGCTACCATCTGATCTGTCTGTCTTGACCACCCGGAGTCCCACTGTCCCCAGCCAGAATCCCAGTAGACTAGCTGTTATCTCAGACTCAGGGGAGAAGAGAGTAACCATCACAGAAAAATCTGTAGCCTCCTCTGAAAGTGACCCAGCACTGCTGAGCCCAGGAGTAGATCCAACTCCTGAAGGCCACATGACTCCTGATCATTTTATCCAAGGACACATGGATGCAGACCACATCTCTAGCCCTCCTTGTGGTTCAGTAGAGCAAGGTCATGGCAACAATCAGGATTTAACTAGGAACAGTAGCACCCCTGGCCTTCAGGTACCTGTTTCCCCAACTGTTCCCATCCAGAACCAGAAGTATGTGCCCAATTCTACTGATAGTCCTGGCCCGTCTCAGATTTCCAATGCAGCTGTCCAGACCACTCCACCCCACCTGAAGCCAGCCACTGAGAAACTCATAGTTGTTAACCAGAACATGCAGCCACTTTATGTTCTCCAAACTCTTCCAAATGGAGTGACCCAAAAAATCCAATTGACCTCTTCTGTTAGTTCTACACCCAGTGTGATGGAGACAAATACTTCAGTATTGGGACCCATGGGAGGTGGTCTCACCCTTACCACAGGACTAAATCCAAGCTTGCCAACTTCTCAATCTTTGTTCCCTTCTGCTAGCAAAGGATTGCTACCCATGTCTCATCACCAGCACTTACATTCCTTCCCTGCAGCTACTCAAAGTAGTTTCCCACCAAACATCAGCAATCCTCCTTCAGGCCTGCTTATTGGGGTTCAGCCTCCTCCGGATCCCCAACTTTTGGTTTCAGAATC | GCAGTCAGCCAAGATCACGCCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTGTGTCTCAAAGAAAAAAAAAAAAAGATGTGATGGAACTTGAATTCGATTCAGGGAGTACTATGATTGAAAGCTGGGGGAAAAGTCATTTACTTGGGAAGTCTCATTTGCTTCTAGTTTTACATTTACCTGATAGCTGACTTTTTATTGGTTAATTTGTTTGATATTTTAATTGGGCCTTTTTAGTTAAGAGTTTTTATTTCCTGCCACAGAAAGTTCATCAAAAGAGAGTCAAAACACAGCTGAAATTATAAGTCCTCCATCACCAGACCGACCTCCTCATTCACAAACCTCTGGCTCCTGTTATTATCATGTCATCTCAAAGGTCCCCAGGATTCGAACACCCAGTTATTCTCCAACACAGAGATCCCCTGGCTGTCGACCGTTGCCTTCTGCAGGTAAAAGACTTTATTGACCTACTTGACCTAAGAAGATCAGCCCAAAGACTAATTTGTAATTCTTTCAGGCAACTTTATCTTGGTGACTTTTACTGATTGAAAATGTAGATTCCGGGTGGGTGAGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAATTCAAAAATTAGCCAGGTGTGGCGGTGCATGCCTGTAATCCCAGCTACCCAGGAGGCTAAGGCAGGAGAATCGCTGGAACCCAGGAGGTGGAGGTTGCAGTAAGCCGAGATCGCACCACTGCACTCCAGCTTGGGTGACAGAGTGAGACACTGTCTCAAAAAAGTAATAATAAATAAATAGAAAATGTAGATTTCCAGTTACCTATAAATATATATATATATAGTCAAATCATTGAAACCAGTGACTTCTACACATTTGTTCTATCTACAATAGCATTTATTACTTTTTCTCTCTTGTTTAGGAAGTCCTACCCCAACCACTCATGAAATAGTCACAGTAGGTGATCCTTTACTCTCCTCTGGACTTCGAAGCATTGGCTCCAGGCGTCACAGTACCTCTTCCTTATCACCCCAGCGGTCCAAACTCCGGATAATGTCTCCAATGAGAACTGGGAATACTTACTCTAGGAATAATGTTTCCTCAGTCTCCACCACCGGGACCGCTACTGATCTTGAATCAAGTGCCAAAGTAGTTGATCATGTCTTAGGGCCACTGAATTCAAGTACTAGTTTAGGGCAAAACACTTCCACCTCTTCAAATTTGCAAAGGACAGTGGTTACTGTAGGCAATAAAAACAGTCACTTGGATGGATCTTCATCTTCAGAAATGAAGCAGTCCAGTGCTTCAGACTTGGTGTCCAAGAGCTCCTCTTTAAAGGGAGAGAAGACCAAAGTGCTGAGTTCCAAGAGCTCAGAGGGATCTGCACATAATGTGGCTTACCCTGGAATTCCTAAACTGGCCCCACAGGTTCATAACACAACATCTAGAGAACTGAATGTTAGTAAAATCGGCTCCTTTGCTGAACCCTCTTCAGTGTCGTTTTCTTCTAAAGAGGCCCTCTCCTTCCCACACCTCCATTTGAGAGGGCAAAGGAATGATCGAGACCAACACACAGATTCTACCCAATCAGCAAACTCCTCTCCAGATGAAGATACTGAAGTCAAAACCTTGAAGCTATCTGGAATGAGCAACAGATCATCCATTATCAACGAACATATGGGATCTAGTTCCAGAGATAGGAGACAGAAAGGGAAAAAATCCTGTAAAGAAACTTTCAAAGAAAAGCATTCCAGTAAATCTTTTTTGGAACCTGGTCAGGTGACAACTGGTGAGGAAGGAAACTTGAAGCCAGAGTTTATGGATGAGGTTTTGACTCCTGAGTATATGGGCCAACGACCATGTAACAATGTTTCTTCTGATAAGATTGGTGATAAAGGCCTTTCTATGCCAGGAGTCCCCAAAGCTCCACCCATGCAAGTAGAAGGATCTGCCAAGGAATTACAGGCACCACGGAAACGCACAAAGTGACACTGACACCTCTAAAAATGGAAAATGAGAGTCAATCCAAAAATGCCCTGAAAGAAAGTAGTCCTGCTTCCCCTTTGCAAATAGAGTCAACATCTCCCACAGAACCAATTTCAGCCTCTGAAAATCCAGGAGATGGTCCAGTGGCCCAACCAAGCCCCAATAATACCTCATGCCAGGATTCTCAAAGTAACAACTATCAGAATCTTCCAGTACAGGACAGAAACCTAATGCTTCCAGATGGCCCCAAACCTCAGGAGGATGGCTCTTTTAAAAGGAGGTATCCCCGTCGCAGTGCCCGTGCACGTTCTAACATGTTTTTTGGGCTTACCCCACTCTATGGAGTAAGATCCTATGGTGAAGAAGACATTCCATTCTACAGCAGCTCAACTGGGAAGAAGCGAGGCAAGAGATCAGCTGAAGGACAGGTGGATGGGGCCGATGACTTAAGCACTTCAGATGAAGACGACTTATACTATTACAACTTCACTAGAACAGTGATTTCTTCAGGTGGAGAGGAACGACTGGCATCCCATAATTTATTTCGGGAGGAGGAACAGTGTGATCTTCCAAAAATCTCACAGTTGGATGGTGTTGATGATGGGACAGAGAGTGATACTAGTGTCACAGCCACAACAAGGAAAAGCAGCCAGATTCCAAAAAGAAATGGTAAAGAAAATGGAACAGAGAACTTAAAGATTGATAGACCTGAAGATGCTGGGGAGAAAGAACATGTCACTAAGAGTTCTGTTGGCCACAAAAATGAGCCAAAGATGGATAACTGCCATTCTGTAAGCAGAGTTAAAACACAGGGACAAGATTCCTTGGAAGCTCAGCTCAGCTCATTGGAGTCAAGCCGCAGAGTCCACACAAGTACCCCCTCCGACAAAAATTTACTGGACACCTATAATACTGAGCTCCTGAAATCAGATTCAGACAATAACAACAGTGATGACTGTGGGAATATCCTGCCTTCAGACATTATGGACTTTGTACTAAAGAATACTCCATCCATGCAGGCTTTGGGTGAGAGCCCAGAGTCATCTTCATCAGAACTCCTGAATCTTGGTGAAGGATTGGGTCTTGACAGTAATCGTGAAAAAGACATGGGTCTTTTTGAAGTATTTTCTCAGCAGCTGCCTACAACAGAACCTGTGGATAGTAGTGTCTCTTCCTCTATCTCAGCAGAGGAACAGTTTGAGTTGCCTCTAGAGCTACCATCTGATCTGTCTGTCTTGACCACCCGGAGTCCCACTGTCCCCAGCCAGAATCCCAGTAGACTAGCTGTTATCTCAGACTCAGGGGAGAAGAGAGTAACCATCACAGAAAAATCTGTAGCCTCCTCTGAAAGTGACCCAGCACTGCTGAGCCCAGGAGTAGATCCAACTCCTGAAGGCCACATGACTCCTGATCATTTTATCCAAGGACACATGGATGCAGACCACATCTCTAGCCCTCCTTGTGGTTCAGTAGAGCAAGGTCATGGCAACAATCAGGATTTAACTAGGAACAGTAGCACCCCTGGCCTTCAGGTACCTGTTTCCCCAACTGTTCCCATCCAGAACCAGAAGTATGTGCCCAATTCTACTGATAGTCCTGGCCCGTCTCAGATTTCCAATGCAGCTGTCCAGACCACTCCACCCCACCTGAAGCCAGCCACTGAGAAACTCATAGTTGTTAACCAGAACATGCAGCCACTTTATGTTCTCCAAACTCTTCCAAATGGAGTGACCCAAAAAATCCAATTGACCTCTTCTGTTAGTTCTACACCCAGTGTGATGGAGACAAATACTTCAGTATTGGGACCCATGGGAGGTGGTCTCACCCTTACCACAGGACTAAATCCAAGCTTGCCAACTTCTCAATCTTTGTTCCCTTCTGCTAGCAAAGGATTGCTACCCATGTCTCATCACCAGCACTTACATTCCTTCCCTGCAGCTACTCAAAGTAGTTTCCCACCAAACATCAGCAATCCTCCTTCAGGCCTGCTTATTGGGGTTCAGCCTCCTCCGGATCCCCAACTTTTGGTTTCAGAATCNNNN | pathogenic | 188,686 |
Gene mutation in KMT2A (lysine methyltransferase 2A) at chromosome 11, position 118503550—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Wiedemann-Steiner_syndrome'] | AATTCGATTCAGGGAGTACTATGATTGAAAGCTGGGGGAAAAGTCATTTACTTGGGAAGTCTCATTTGCTTCTAGTTTTACATTTACCTGATAGCTGACTTTTTATTGGTTAATTTGTTTGATATTTTAATTGGGCCTTTTTAGTTAAGAGTTTTTATTTCCTGCCACAGAAAGTTCATCAAAAGAGAGTCAAAACACAGCTGAAATTATAAGTCCTCCATCACCAGACCGACCTCCTCATTCACAAACCTCTGGCTCCTGTTATTATCATGTCATCTCAAAGGTCCCCAGGATTCGAACACCCAGTTATTCTCCAACACAGAGATCCCCTGGCTGTCGACCGTTGCCTTCTGCAGGTAAAAGACTTTATTGACCTACTTGACCTAAGAAGATCAGCCCAAAGACTAATTTGTAATTCTTTCAGGCAACTTTATCTTGGTGACTTTTACTGATTGAAAATGTAGATTCCGGGTGGGTGAGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAATTCAAAAATTAGCCAGGTGTGGCGGTGCATGCCTGTAATCCCAGCTACCCAGGAGGCTAAGGCAGGAGAATCGCTGGAACCCAGGAGGTGGAGGTTGCAGTAAGCCGAGATCGCACCACTGCACTCCAGCTTGGGTGACAGAGTGAGACACTGTCTCAAAAAAGTAATAATAAATAAATAGAAAATGTAGATTTCCAGTTACCTATAAATATATATATATATAGTCAAATCATTGAAACCAGTGACTTCTACACATTTGTTCTATCTACAATAGCATTTATTACTTTTTCTCTCTTGTTTAGGAAGTCCTACCCCAACCACTCATGAAATAGTCACAGTAGGTGATCCTTTACTCTCCTCTGGACTTCGAAGCATTGGCTCCAGGCGTCACAGTACCTCTTCCTTATCACCCCAGCGGTCCAAACTCCGGATAATGTCTCCAATGAGAACTGGGAATACTTACTCTAGGAATAATGTTTCCTCAGTCTCCACCACCGGGACCGCTACTGATCTTGAATCAAGTGCCAAAGTAGTTGATCATGTCTTAGGGCCACTGAATTCAAGTACTAGTTTAGGGCAAAACACTTCCACCTCTTCAAATTTGCAAAGGACAGTGGTTACTGTAGGCAATAAAAACAGTCACTTGGATGGATCTTCATCTTCAGAAATGAAGCAGTCCAGTGCTTCAGACTTGGTGTCCAAGAGCTCCTCTTTAAAGGGAGAGAAGACCAAAGTGCTGAGTTCCAAGAGCTCAGAGGGATCTGCACATAATGTGGCTTACCCTGGAATTCCTAAACTGGCCCCACAGGTTCATAACACAACATCTAGAGAACTGAATGTTAGTAAAATCGGCTCCTTTGCTGAACCCTCTTCAGTGTCGTTTTCTTCTAAAGAGGCCCTCTCCTTCCCACACCTCCATTTGAGAGGGCAAAGGAATGATCGAGACCAACACACAGATTCTACCCAATCAGCAAACTCCTCTCCAGATGAAGATACTGAAGTCAAAACCTTGAAGCTATCTGGAATGAGCAACAGATCATCCATTATCAACGAACATATGGGATCTAGTTCCAGAGATAGGAGACAGAAAGGGAAAAAATCCTGTAAAGAAACTTTCAAAGAAAAGCATTCCAGTAAATCTTTTTTGGAACCTGGTCAGGTGACAACTGGTGAGGAAGGAAACTTGAAGCCAGAGTTTATGGATGAGGTTTTGACTCCTGAGTATATGGGCCAACGACCATGTAACAATGTTTCTTCTGATAAGATTGGTGATAAAGGCCTTTCTATGCCAGGAGTCCCCAAAGCTCCACCCATGCAAGTAGAAGGATCTGCCAAGGAATTACAGGCACCACGGAAACGCACAGTCAAAGTGACACTGACACCTCTAAAAATGGAAAATGAGAGTCAATCCAAAAATGCCCTGAAAGAAAGTAGTCCTGCTTCCCCTTTGCAAATAGAGTCAACATCTCCCACAGAACCAATTTCAGCCTCTGAAAATCCAGGAGATGGTCCAGTGGCCCAACCAAGCCCCAATAATACCTCATGCCAGGATTCTCAAAGTAACAACTATCAGAATCTTCCAGTACAGGACAGAAACCTAATGCTTCCAGATGGCCCCAAACCTCAGGAGGATGGCTCTTTTAAAAGGAGGTATCCCCGTCGCAGTGCCCGTGCACGTTCTAACATGTTTTTTGGGCTTACCCCACTCTATGGAGTAAGATCCTATGGTGAAGAAGACATTCCATTCTACAGCAGCTCAACTGGGAAGAAGCGAGGCAAGAGATCAGCTGAAGGACAGGTGGATGGGGCCGATGACTTAAGCACTTCAGATGAAGACGACTTATACTATTACAACTTCACTAGAACAGTGATTTCTTCAGGTGGAGAGGAACGACTGGCATCCCATAATTTATTTCGGGAGGAGGAACAGTGTGATCTTCCAAAAATCTCACAGTTGGATGGTGTTGATGATGGGACAGAGAGTGATACTAGTGTCACAGCCACAACAAGGAAAAGCAGCCAGATTCCAAAAAGAAATGGTAAAGAAAATGGAACAGAGAACTTAAAGATTGATAGACCTGAAGATGCTGGGGAGAAAGAACATGTCACTAAGAGTTCTGTTGGCCACAAAAATGAGCCAAAGATGGATAACTGCCATTCTGTAAGCAGAGTTAAAACACAGGGACAAGATTCCTTGGAAGCTCAGCTCAGCTCATTGGAGTCAAGCCGCAGAGTCCACACAAGTACCCCCTCCGACAAAAATTTACTGGACACCTATAATACTGAGCTCCTGAAATCAGATTCAGACAATAACAACAGTGATGACTGTGGGAATATCCTGCCTTCAGACATTATGGACTTTGTACTAAAGAATACTCCATCCATGCAGGCTTTGGGTGAGAGCCCAGAGTCATCTTCATCAGAACTCCTGAATCTTGGTGAAGGATTGGGTCTTGACAGTAATCGTGAAAAAGACATGGGTCTTTTTGAAGTATTTTCTCAGCAGCTGCCTACAACAGAACCTGTGGATAGTAGTGTCTCTTCCTCTATCTCAGCAGAGGAACAGTTTGAGTTGCCTCTAGAGCTACCATCTGATCTGTCTGTCTTGACCACCCGGAGTCCCACTGTCCCCAGCCAGAATCCCAGTAGACTAGCTGTTATCTCAGACTCAGGGGAGAAGAGAGTAACCATCACAGAAAAATCTGTAGCCTCCTCTGAAAGTGACCCAGCACTGCTGAGCCCAGGAGTAGATCCAACTCCTGAAGGCCACATGACTCCTGATCATTTTATCCAAGGACACATGGATGCAGACCACATCTCTAGCCCTCCTTGTGGTTCAGTAGAGCAAGGTCATGGCAACAATCAGGATTTAACTAGGAACAGTAGCACCCCTGGCCTTCAGGTACCTGTTTCCCCAACTGTTCCCATCCAGAACCAGAAGTATGTGCCCAATTCTACTGATAGTCCTGGCCCGTCTCAGATTTCCAATGCAGCTGTCCAGACCACTCCACCCCACCTGAAGCCAGCCACTGAGAAACTCATAGTTGTTAACCAGAACATGCAGCCACTTTATGTTCTCCAAACTCTTCCAAATGGAGTGACCCAAAAAATCCAATTGACCTCTTCTGTTAGTTCTACACCCAGTGTGATGGAGACAAATACTTCAGTATTGGGACCCATGGGAGGTGGTCTCACCCTTACCACAGGACTAAATCCAAGCTTGCCAACTTCTCAATCTTTGTTCCCTTCTGCTAGCAAAGGATTGCTACCCATGTCTCATCACCAGCACTTACATTCCTTCCCTGCAGCTACTCAAAGTAGTTTCCCACCAAACATCAGCAATCCTCCTTCAGGCCTGCTTATTGGGGTTCAGCCTCCTCCGGATCCCCAACTTTTGGTTTCAGAATCCAGCCAGAGGACAGACCTCAGTACCACAGTAGCCACTCCATCCTCTGGACTCAAGAAAAGACCCATATCTCGTCTACAGACCCGAAAGAATAAA | AATTCGATTCAGGGAGTACTATGATTGAAAGCTGGGGGAAAAGTCATTTACTTGGGAAGTCTCATTTGCTTCTAGTTTTACATTTACCTGATAGCTGACTTTTTATTGGTTAATTTGTTTGATATTTTAATTGGGCCTTTTTAGTTAAGAGTTTTTATTTCCTGCCACAGAAAGTTCATCAAAAGAGAGTCAAAACACAGCTGAAATTATAAGTCCTCCATCACCAGACCGACCTCCTCATTCACAAACCTCTGGCTCCTGTTATTATCATGTCATCTCAAAGGTCCCCAGGATTCGAACACCCAGTTATTCTCCAACACAGAGATCCCCTGGCTGTCGACCGTTGCCTTCTGCAGGTAAAAGACTTTATTGACCTACTTGACCTAAGAAGATCAGCCCAAAGACTAATTTGTAATTCTTTCAGGCAACTTTATCTTGGTGACTTTTACTGATTGAAAATGTAGATTCCGGGTGGGTGAGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAATTCAAAAATTAGCCAGGTGTGGCGGTGCATGCCTGTAATCCCAGCTACCCAGGAGGCTAAGGCAGGAGAATCGCTGGAACCCAGGAGGTGGAGGTTGCAGTAAGCCGAGATCGCACCACTGCACTCCAGCTTGGGTGACAGAGTGAGACACTGTCTCAAAAAAGTAATAATAAATAAATAGAAAATGTAGATTTCCAGTTACCTATAAATATATATATATATAGTCAAATCATTGAAACCAGTGACTTCTACACATTTGTTCTATCTACAATAGCATTTATTACTTTTTCTCTCTTGTTTAGGAAGTCCTACCCCAACCACTCATGAAATAGTCACAGTAGGTGATCCTTTACTCTCCTCTGGACTTCGAAGCATTGGCTCCAGGCGTCACAGTACCTCTTCCTTATCACCCCAGCGGTCCAAACTCCGGATAATGTCTCCAATGAGAACTGGGAATACTTACTCTAGGAATAATGTTTCCTCAGTCTCCACCACCGGGACCGCTACTGATCTTGAATCAAGTGCCAAAGTAGTTGATCATGTCTTAGGGCCACTGAATTCAAGTACTAGTTTAGGGCAAAACACTTCCACCTCTTCAAATTTGCAAAGGACAGTGGTTACTGTAGGCAATAAAAACAGTCACTTGGATGGATCTTCATCTTCAGAAATGAAGCAGTCCAGTGCTTCAGACTTGGTGTCCAAGAGCTCCTCTTTAAAGGGAGAGAAGACCAAAGTGCTGAGTTCCAAGAGCTCAGAGGGATCTGCACATAATGTGGCTTACCCTGGAATTCCTAAACTGGCCCCACAGGTTCATAACACAACATCTAGAGAACTGAATGTTAGTAAAATCGGCTCCTTTGCTGAACCCTCTTCAGTGTCGTTTTCTTCTAAAGAGGCCCTCTCCTTCCCACACCTCCATTTGAGAGGGCAAAGGAATGATCGAGACCAACACACAGATTCTACCCAATCAGCAAACTCCTCTCCAGATGAAGATACTGAAGTCAAAACCTTGAAGCTATCTGGAATGAGCAACAGATCATCCATTATCAACGAACATATGGGATCTAGTTCCAGAGATAGGAGACAGAAAGGGAAAAAATCCTGTAAAGAAACTTTCAAAGAAAAGCATTCCAGTAAATCTTTTTTGGAACCTGGTCAGGTGACAACTGGTGAGGAAGGAAACTTGAAGCCAGAGTTTATGGATGAGGTTTTGACTCCTGAGTATATGGGCCAACGACCATGTAACAATGTTTCTTCTGATAAGATTGGTGATAAAGGCCTTTCTATGCCAGGAGTCCCCAAAGCTCCACCCATGCAAGTAGAAGGATCTGCCAAGGAATTACAGGCACCACGGAAACGCACAGTCAAAGTGACACTGACACCTCTAAAAATGGAAAATGAGAGTCAATCCAAAAATGCCCTGAAAGAAAGTAGTCCTGCTTCCCCTTTGCAAATAAGAGTCAACATCTCCCACAGAACCAATTTCAGCCTCTGAAAATCCAGGAGATGGTCCAGTGGCCCAACCAAGCCCCAATAATACCTCATGCCAGGATTCTCAAAGTAACAACTATCAGAATCTTCCAGTACAGGACAGAAACCTAATGCTTCCAGATGGCCCCAAACCTCAGGAGGATGGCTCTTTTAAAAGGAGGTATCCCCGTCGCAGTGCCCGTGCACGTTCTAACATGTTTTTTGGGCTTACCCCACTCTATGGAGTAAGATCCTATGGTGAAGAAGACATTCCATTCTACAGCAGCTCAACTGGGAAGAAGCGAGGCAAGAGATCAGCTGAAGGACAGGTGGATGGGGCCGATGACTTAAGCACTTCAGATGAAGACGACTTATACTATTACAACTTCACTAGAACAGTGATTTCTTCAGGTGGAGAGGAACGACTGGCATCCCATAATTTATTTCGGGAGGAGGAACAGTGTGATCTTCCAAAAATCTCACAGTTGGATGGTGTTGATGATGGGACAGAGAGTGATACTAGTGTCACAGCCACAACAAGGAAAAGCAGCCAGATTCCAAAAAGAAATGGTAAAGAAAATGGAACAGAGAACTTAAAGATTGATAGACCTGAAGATGCTGGGGAGAAAGAACATGTCACTAAGAGTTCTGTTGGCCACAAAAATGAGCCAAAGATGGATAACTGCCATTCTGTAAGCAGAGTTAAAACACAGGGACAAGATTCCTTGGAAGCTCAGCTCAGCTCATTGGAGTCAAGCCGCAGAGTCCACACAAGTACCCCCTCCGACAAAAATTTACTGGACACCTATAATACTGAGCTCCTGAAATCAGATTCAGACAATAACAACAGTGATGACTGTGGGAATATCCTGCCTTCAGACATTATGGACTTTGTACTAAAGAATACTCCATCCATGCAGGCTTTGGGTGAGAGCCCAGAGTCATCTTCATCAGAACTCCTGAATCTTGGTGAAGGATTGGGTCTTGACAGTAATCGTGAAAAAGACATGGGTCTTTTTGAAGTATTTTCTCAGCAGCTGCCTACAACAGAACCTGTGGATAGTAGTGTCTCTTCCTCTATCTCAGCAGAGGAACAGTTTGAGTTGCCTCTAGAGCTACCATCTGATCTGTCTGTCTTGACCACCCGGAGTCCCACTGTCCCCAGCCAGAATCCCAGTAGACTAGCTGTTATCTCAGACTCAGGGGAGAAGAGAGTAACCATCACAGAAAAATCTGTAGCCTCCTCTGAAAGTGACCCAGCACTGCTGAGCCCAGGAGTAGATCCAACTCCTGAAGGCCACATGACTCCTGATCATTTTATCCAAGGACACATGGATGCAGACCACATCTCTAGCCCTCCTTGTGGTTCAGTAGAGCAAGGTCATGGCAACAATCAGGATTTAACTAGGAACAGTAGCACCCCTGGCCTTCAGGTACCTGTTTCCCCAACTGTTCCCATCCAGAACCAGAAGTATGTGCCCAATTCTACTGATAGTCCTGGCCCGTCTCAGATTTCCAATGCAGCTGTCCAGACCACTCCACCCCACCTGAAGCCAGCCACTGAGAAACTCATAGTTGTTAACCAGAACATGCAGCCACTTTATGTTCTCCAAACTCTTCCAAATGGAGTGACCCAAAAAATCCAATTGACCTCTTCTGTTAGTTCTACACCCAGTGTGATGGAGACAAATACTTCAGTATTGGGACCCATGGGAGGTGGTCTCACCCTTACCACAGGACTAAATCCAAGCTTGCCAACTTCTCAATCTTTGTTCCCTTCTGCTAGCAAAGGATTGCTACCCATGTCTCATCACCAGCACTTACATTCCTTCCCTGCAGCTACTCAAAGTAGTTTCCCACCAAACATCAGCAATCCTCCTTCAGGCCTGCTTATTGGGGTTCAGCCTCCTCCGGATCCCCAACTTTTGGTTTCAGAATCCAGCCAGAGGACAGACCTCAGTACCACAGTAGCCACTCCATCCTCTGGACTCAAGAAAAGACCCATATCTCGTCTACAGACCCGAAAGAATAA | pathogenic | 188,687 |
Variant at chromosome position 118504027, chromosome 11, gene KMT2A (lysine methyltransferase 2A): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Wiedemann-Steiner_syndrome'] | GAGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAATTCAAAAATTAGCCAGGTGTGGCGGTGCATGCCTGTAATCCCAGCTACCCAGGAGGCTAAGGCAGGAGAATCGCTGGAACCCAGGAGGTGGAGGTTGCAGTAAGCCGAGATCGCACCACTGCACTCCAGCTTGGGTGACAGAGTGAGACACTGTCTCAAAAAAGTAATAATAAATAAATAGAAAATGTAGATTTCCAGTTACCTATAAATATATATATATATAGTCAAATCATTGAAACCAGTGACTTCTACACATTTGTTCTATCTACAATAGCATTTATTACTTTTTCTCTCTTGTTTAGGAAGTCCTACCCCAACCACTCATGAAATAGTCACAGTAGGTGATCCTTTACTCTCCTCTGGACTTCGAAGCATTGGCTCCAGGCGTCACAGTACCTCTTCCTTATCACCCCAGCGGTCCAAACTCCGGATAATGTCTCCAATGAGAACTGGGAATACTTACTCTAGGAATAATGTTTCCTCAGTCTCCACCACCGGGACCGCTACTGATCTTGAATCAAGTGCCAAAGTAGTTGATCATGTCTTAGGGCCACTGAATTCAAGTACTAGTTTAGGGCAAAACACTTCCACCTCTTCAAATTTGCAAAGGACAGTGGTTACTGTAGGCAATAAAAACAGTCACTTGGATGGATCTTCATCTTCAGAAATGAAGCAGTCCAGTGCTTCAGACTTGGTGTCCAAGAGCTCCTCTTTAAAGGGAGAGAAGACCAAAGTGCTGAGTTCCAAGAGCTCAGAGGGATCTGCACATAATGTGGCTTACCCTGGAATTCCTAAACTGGCCCCACAGGTTCATAACACAACATCTAGAGAACTGAATGTTAGTAAAATCGGCTCCTTTGCTGAACCCTCTTCAGTGTCGTTTTCTTCTAAAGAGGCCCTCTCCTTCCCACACCTCCATTTGAGAGGGCAAAGGAATGATCGAGACCAACACACAGATTCTACCCAATCAGCAAACTCCTCTCCAGATGAAGATACTGAAGTCAAAACCTTGAAGCTATCTGGAATGAGCAACAGATCATCCATTATCAACGAACATATGGGATCTAGTTCCAGAGATAGGAGACAGAAAGGGAAAAAATCCTGTAAAGAAACTTTCAAAGAAAAGCATTCCAGTAAATCTTTTTTGGAACCTGGTCAGGTGACAACTGGTGAGGAAGGAAACTTGAAGCCAGAGTTTATGGATGAGGTTTTGACTCCTGAGTATATGGGCCAACGACCATGTAACAATGTTTCTTCTGATAAGATTGGTGATAAAGGCCTTTCTATGCCAGGAGTCCCCAAAGCTCCACCCATGCAAGTAGAAGGATCTGCCAAGGAATTACAGGCACCACGGAAACGCACAGTCAAAGTGACACTGACACCTCTAAAAATGGAAAATGAGAGTCAATCCAAAAATGCCCTGAAAGAAAGTAGTCCTGCTTCCCCTTTGCAAATAGAGTCAACATCTCCCACAGAACCAATTTCAGCCTCTGAAAATCCAGGAGATGGTCCAGTGGCCCAACCAAGCCCCAATAATACCTCATGCCAGGATTCTCAAAGTAACAACTATCAGAATCTTCCAGTACAGGACAGAAACCTAATGCTTCCAGATGGCCCCAAACCTCAGGAGGATGGCTCTTTTAAAAGGAGGTATCCCCGTCGCAGTGCCCGTGCACGTTCTAACATGTTTTTTGGGCTTACCCCACTCTATGGAGTAAGATCCTATGGTGAAGAAGACATTCCATTCTACAGCAGCTCAACTGGGAAGAAGCGAGGCAAGAGATCAGCTGAAGGACAGGTGGATGGGGCCGATGACTTAAGCACTTCAGATGAAGACGACTTATACTATTACAACTTCACTAGAACAGTGATTTCTTCAGGTGGAGAGGAACGACTGGCATCCCATAATTTATTTCGGGAGGAGGAACAGTGTGATCTTCCAAAAATCTCACAGTTGGATGGTGTTGATGATGGGACAGAGAGTGATACTAGTGTCACAGCCACAACAAGGAAAAGCAGCCAGATTCCAAAAAGAAATGGTAAAGAAAATGGAACAGAGAACTTAAAGATTGATAGACCTGAAGATGCTGGGGAGAAAGAACATGTCACTAAGAGTTCTGTTGGCCACAAAAATGAGCCAAAGATGGATAACTGCCATTCTGTAAGCAGAGTTAAAACACAGGGACAAGATTCCTTGGAAGCTCAGCTCAGCTCATTGGAGTCAAGCCGCAGAGTCCACACAAGTACCCCCTCCGACAAAAATTTACTGGACACCTATAATACTGAGCTCCTGAAATCAGATTCAGACAATAACAACAGTGATGACTGTGGGAATATCCTGCCTTCAGACATTATGGACTTTGTACTAAAGAATACTCCATCCATGCAGGCTTTGGGTGAGAGCCCAGAGTCATCTTCATCAGAACTCCTGAATCTTGGTGAAGGATTGGGTCTTGACAGTAATCGTGAAAAAGACATGGGTCTTTTTGAAGTATTTTCTCAGCAGCTGCCTACAACAGAACCTGTGGATAGTAGTGTCTCTTCCTCTATCTCAGCAGAGGAACAGTTTGAGTTGCCTCTAGAGCTACCATCTGATCTGTCTGTCTTGACCACCCGGAGTCCCACTGTCCCCAGCCAGAATCCCAGTAGACTAGCTGTTATCTCAGACTCAGGGGAGAAGAGAGTAACCATCACAGAAAAATCTGTAGCCTCCTCTGAAAGTGACCCAGCACTGCTGAGCCCAGGAGTAGATCCAACTCCTGAAGGCCACATGACTCCTGATCATTTTATCCAAGGACACATGGATGCAGACCACATCTCTAGCCCTCCTTGTGGTTCAGTAGAGCAAGGTCATGGCAACAATCAGGATTTAACTAGGAACAGTAGCACCCCTGGCCTTCAGGTACCTGTTTCCCCAACTGTTCCCATCCAGAACCAGAAGTATGTGCCCAATTCTACTGATAGTCCTGGCCCGTCTCAGATTTCCAATGCAGCTGTCCAGACCACTCCACCCCACCTGAAGCCAGCCACTGAGAAACTCATAGTTGTTAACCAGAACATGCAGCCACTTTATGTTCTCCAAACTCTTCCAAATGGAGTGACCCAAAAAATCCAATTGACCTCTTCTGTTAGTTCTACACCCAGTGTGATGGAGACAAATACTTCAGTATTGGGACCCATGGGAGGTGGTCTCACCCTTACCACAGGACTAAATCCAAGCTTGCCAACTTCTCAATCTTTGTTCCCTTCTGCTAGCAAAGGATTGCTACCCATGTCTCATCACCAGCACTTACATTCCTTCCCTGCAGCTACTCAAAGTAGTTTCCCACCAAACATCAGCAATCCTCCTTCAGGCCTGCTTATTGGGGTTCAGCCTCCTCCGGATCCCCAACTTTTGGTTTCAGAATCCAGCCAGAGGACAGACCTCAGTACCACAGTAGCCACTCCATCCTCTGGACTCAAGAAAAGACCCATATCTCGTCTACAGACCCGAAAGAATAAAAAACTTGCTCCCTCTAGTACCCCTTCAAACATTGCCCCTTCTGATGTGGTTTCTAATATGACATTGATTAACTTCACACCCTCCCAGCTTCCTAATCATCCAAGTCTGTTAGATTTGGGGTCACTTAATACTTCATCTCACCGAACTGTCCCCAACATCATAAAAAGATCTAAATCTAGCATCATGTATTTTGAACCGGCACCCCTGTTACCACAGAGTGTGGGAGGAACTGCTGCCACAGCGGCAGGCACATCAACAATAAGCCAGGATACTAGCCACCTCACATCAGGGTCTGTGTCTGGCTTGGCATCCAGTTCCTCTGTCTTGAATGTTGTATCCATGCAAACTACCACAACCCCTACAAGTAGTGCGTCAGTTCCAGGACACGTCACCTTAACCAACCCAAGGTTGCTTGGTACCCCAGATATTGGCTCAATAAGCAATCTTTTAATCAAAGCTAGCCAGCAGAGCCTGGGG | GAGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAGGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAAATTCAAAAATTAGCCAGGTGTGGCGGTGCATGCCTGTAATCCCAGCTACCCAGGAGGCTAAGGCAGGAGAATCGCTGGAACCCAGGAGGTGGAGGTTGCAGTAAGCCGAGATCGCACCACTGCACTCCAGCTTGGGTGACAGAGTGAGACACTGTCTCAAAAAAGTAATAATAAATAAATAGAAAATGTAGATTTCCAGTTACCTATAAATATATATATATATAGTCAAATCATTGAAACCAGTGACTTCTACACATTTGTTCTATCTACAATAGCATTTATTACTTTTTCTCTCTTGTTTAGGAAGTCCTACCCCAACCACTCATGAAATAGTCACAGTAGGTGATCCTTTACTCTCCTCTGGACTTCGAAGCATTGGCTCCAGGCGTCACAGTACCTCTTCCTTATCACCCCAGCGGTCCAAACTCCGGATAATGTCTCCAATGAGAACTGGGAATACTTACTCTAGGAATAATGTTTCCTCAGTCTCCACCACCGGGACCGCTACTGATCTTGAATCAAGTGCCAAAGTAGTTGATCATGTCTTAGGGCCACTGAATTCAAGTACTAGTTTAGGGCAAAACACTTCCACCTCTTCAAATTTGCAAAGGACAGTGGTTACTGTAGGCAATAAAAACAGTCACTTGGATGGATCTTCATCTTCAGAAATGAAGCAGTCCAGTGCTTCAGACTTGGTGTCCAAGAGCTCCTCTTTAAAGGGAGAGAAGACCAAAGTGCTGAGTTCCAAGAGCTCAGAGGGATCTGCACATAATGTGGCTTACCCTGGAATTCCTAAACTGGCCCCACAGGTTCATAACACAACATCTAGAGAACTGAATGTTAGTAAAATCGGCTCCTTTGCTGAACCCTCTTCAGTGTCGTTTTCTTCTAAAGAGGCCCTCTCCTTCCCACACCTCCATTTGAGAGGGCAAAGGAATGATCGAGACCAACACACAGATTCTACCCAATCAGCAAACTCCTCTCCAGATGAAGATACTGAAGTCAAAACCTTGAAGCTATCTGGAATGAGCAACAGATCATCCATTATCAACGAACATATGGGATCTAGTTCCAGAGATAGGAGACAGAAAGGGAAAAAATCCTGTAAAGAAACTTTCAAAGAAAAGCATTCCAGTAAATCTTTTTTGGAACCTGGTCAGGTGACAACTGGTGAGGAAGGAAACTTGAAGCCAGAGTTTATGGATGAGGTTTTGACTCCTGAGTATATGGGCCAACGACCATGTAACAATGTTTCTTCTGATAAGATTGGTGATAAAGGCCTTTCTATGCCAGGAGTCCCCAAAGCTCCACCCATGCAAGTAGAAGGATCTGCCAAGGAATTACAGGCACCACGGAAACGCACAGTCAAAGTGACACTGACACCTCTAAAAATGGAAAATGAGAGTCAATCCAAAAATGCCCTGAAAGAAAGTAGTCCTGCTTCCCCTTTGCAAATAGAGTCAACATCTCCCACAGAACCAATTTCAGCCTCTGAAAATCCAGGAGATGGTCCAGTGGCCCAACCAAGCCCCAATAATACCTCATGCCAGGATTCTCAAAGTAACAACTATCAGAATCTTCCAGTACAGGACAGAAACCTAATGCTTCCAGATGGCCCCAAACCTCAGGAGGATGGCTCTTTTAAAAGGAGGTATCCCCGTCGCAGTGCCCGTGCACGTTCTAACATGTTTTTTGGGCTTACCCCACTCTATGGAGTAAGATCCTATGGTGAAGAAGACATTCCATTCTACAGCAGCTCAACTGGGAAGAAGCGAGGCAAGAGATCAGCTGAAGGACAGGTGGATGGGGCCGATGACTTAAGCACTTCAGATGAAGACGACTTATACTATTACAACTTCACTAGAACAGTGATTTCTTCAGGTGGAGAGGAACGACTGGCATCCCATAATTTATTTCGGGAGGAGGAACAGTGTTGATCTTCCAAAAATCTCACAGTTGGATGGTGTTGATGATGGGACAGAGAGTGATACTAGTGTCACAGCCACAACAAGGAAAAGCAGCCAGATTCCAAAAAGAAATGGTAAAGAAAATGGAACAGAGAACTTAAAGATTGATAGACCTGAAGATGCTGGGGAGAAAGAACATGTCACTAAGAGTTCTGTTGGCCACAAAAATGAGCCAAAGATGGATAACTGCCATTCTGTAAGCAGAGTTAAAACACAGGGACAAGATTCCTTGGAAGCTCAGCTCAGCTCATTGGAGTCAAGCCGCAGAGTCCACACAAGTACCCCCTCCGACAAAAATTTACTGGACACCTATAATACTGAGCTCCTGAAATCAGATTCAGACAATAACAACAGTGATGACTGTGGGAATATCCTGCCTTCAGACATTATGGACTTTGTACTAAAGAATACTCCATCCATGCAGGCTTTGGGTGAGAGCCCAGAGTCATCTTCATCAGAACTCCTGAATCTTGGTGAAGGATTGGGTCTTGACAGTAATCGTGAAAAAGACATGGGTCTTTTTGAAGTATTTTCTCAGCAGCTGCCTACAACAGAACCTGTGGATAGTAGTGTCTCTTCCTCTATCTCAGCAGAGGAACAGTTTGAGTTGCCTCTAGAGCTACCATCTGATCTGTCTGTCTTGACCACCCGGAGTCCCACTGTCCCCAGCCAGAATCCCAGTAGACTAGCTGTTATCTCAGACTCAGGGGAGAAGAGAGTAACCATCACAGAAAAATCTGTAGCCTCCTCTGAAAGTGACCCAGCACTGCTGAGCCCAGGAGTAGATCCAACTCCTGAAGGCCACATGACTCCTGATCATTTTATCCAAGGACACATGGATGCAGACCACATCTCTAGCCCTCCTTGTGGTTCAGTAGAGCAAGGTCATGGCAACAATCAGGATTTAACTAGGAACAGTAGCACCCCTGGCCTTCAGGTACCTGTTTCCCCAACTGTTCCCATCCAGAACCAGAAGTATGTGCCCAATTCTACTGATAGTCCTGGCCCGTCTCAGATTTCCAATGCAGCTGTCCAGACCACTCCACCCCACCTGAAGCCAGCCACTGAGAAACTCATAGTTGTTAACCAGAACATGCAGCCACTTTATGTTCTCCAAACTCTTCCAAATGGAGTGACCCAAAAAATCCAATTGACCTCTTCTGTTAGTTCTACACCCAGTGTGATGGAGACAAATACTTCAGTATTGGGACCCATGGGAGGTGGTCTCACCCTTACCACAGGACTAAATCCAAGCTTGCCAACTTCTCAATCTTTGTTCCCTTCTGCTAGCAAAGGATTGCTACCCATGTCTCATCACCAGCACTTACATTCCTTCCCTGCAGCTACTCAAAGTAGTTTCCCACCAAACATCAGCAATCCTCCTTCAGGCCTGCTTATTGGGGTTCAGCCTCCTCCGGATCCCCAACTTTTGGTTTCAGAATCCAGCCAGAGGACAGACCTCAGTACCACAGTAGCCACTCCATCCTCTGGACTCAAGAAAAGACCCATATCTCGTCTACAGACCCGAAAGAATAAAAAACTTGCTCCCTCTAGTACCCCTTCAAACATTGCCCCTTCTGATGTGGTTTCTAATATGACATTGATTAACTTCACACCCTCCCAGCTTCCTAATCATCCAAGTCTGTTAGATTTGGGGTCACTTAATACTTCATCTCACCGAACTGTCCCCAACATCATAAAAAGATCTAAATCTAGCATCATGTATTTTGAACCGGCACCCCTGTTACCACAGAGTGTGGGAGGAACTGCTGCCACAGCGGCAGGCACATCAACAATAAGCCAGGATACTAGCCACCTCACATCAGGGTCTGTGTCTGGCTTGGCATCCAGTTCCTCTGTCTTGAATGTTGTATCCATGCAAACTACCACAACCCCTACAAGTAGTGCGTCAGTTCCAGGACACGTCACCTTAACCAACCCAAGGTTGCTTGGTACCCCAGATATTGGCTCAATAAGCAATCTTTTAATCAAAGCTAGCCAGCAGAGCCTGGG | pathogenic | 188,697 |
The chromosome 11, position 118505801 genetic variant in gene KMT2A (lysine methyltransferase 2A): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Wiedemann-Steiner_syndrome'] | CGTCGCAGTGCCCGTGCACGTTCTAACATGTTTTTTGGGCTTACCCCACTCTATGGAGTAAGATCCTATGGTGAAGAAGACATTCCATTCTACAGCAGCTCAACTGGGAAGAAGCGAGGCAAGAGATCAGCTGAAGGACAGGTGGATGGGGCCGATGACTTAAGCACTTCAGATGAAGACGACTTATACTATTACAACTTCACTAGAACAGTGATTTCTTCAGGTGGAGAGGAACGACTGGCATCCCATAATTTATTTCGGGAGGAGGAACAGTGTGATCTTCCAAAAATCTCACAGTTGGATGGTGTTGATGATGGGACAGAGAGTGATACTAGTGTCACAGCCACAACAAGGAAAAGCAGCCAGATTCCAAAAAGAAATGGTAAAGAAAATGGAACAGAGAACTTAAAGATTGATAGACCTGAAGATGCTGGGGAGAAAGAACATGTCACTAAGAGTTCTGTTGGCCACAAAAATGAGCCAAAGATGGATAACTGCCATTCTGTAAGCAGAGTTAAAACACAGGGACAAGATTCCTTGGAAGCTCAGCTCAGCTCATTGGAGTCAAGCCGCAGAGTCCACACAAGTACCCCCTCCGACAAAAATTTACTGGACACCTATAATACTGAGCTCCTGAAATCAGATTCAGACAATAACAACAGTGATGACTGTGGGAATATCCTGCCTTCAGACATTATGGACTTTGTACTAAAGAATACTCCATCCATGCAGGCTTTGGGTGAGAGCCCAGAGTCATCTTCATCAGAACTCCTGAATCTTGGTGAAGGATTGGGTCTTGACAGTAATCGTGAAAAAGACATGGGTCTTTTTGAAGTATTTTCTCAGCAGCTGCCTACAACAGAACCTGTGGATAGTAGTGTCTCTTCCTCTATCTCAGCAGAGGAACAGTTTGAGTTGCCTCTAGAGCTACCATCTGATCTGTCTGTCTTGACCACCCGGAGTCCCACTGTCCCCAGCCAGAATCCCAGTAGACTAGCTGTTATCTCAGACTCAGGGGAGAAGAGAGTAACCATCACAGAAAAATCTGTAGCCTCCTCTGAAAGTGACCCAGCACTGCTGAGCCCAGGAGTAGATCCAACTCCTGAAGGCCACATGACTCCTGATCATTTTATCCAAGGACACATGGATGCAGACCACATCTCTAGCCCTCCTTGTGGTTCAGTAGAGCAAGGTCATGGCAACAATCAGGATTTAACTAGGAACAGTAGCACCCCTGGCCTTCAGGTACCTGTTTCCCCAACTGTTCCCATCCAGAACCAGAAGTATGTGCCCAATTCTACTGATAGTCCTGGCCCGTCTCAGATTTCCAATGCAGCTGTCCAGACCACTCCACCCCACCTGAAGCCAGCCACTGAGAAACTCATAGTTGTTAACCAGAACATGCAGCCACTTTATGTTCTCCAAACTCTTCCAAATGGAGTGACCCAAAAAATCCAATTGACCTCTTCTGTTAGTTCTACACCCAGTGTGATGGAGACAAATACTTCAGTATTGGGACCCATGGGAGGTGGTCTCACCCTTACCACAGGACTAAATCCAAGCTTGCCAACTTCTCAATCTTTGTTCCCTTCTGCTAGCAAAGGATTGCTACCCATGTCTCATCACCAGCACTTACATTCCTTCCCTGCAGCTACTCAAAGTAGTTTCCCACCAAACATCAGCAATCCTCCTTCAGGCCTGCTTATTGGGGTTCAGCCTCCTCCGGATCCCCAACTTTTGGTTTCAGAATCCAGCCAGAGGACAGACCTCAGTACCACAGTAGCCACTCCATCCTCTGGACTCAAGAAAAGACCCATATCTCGTCTACAGACCCGAAAGAATAAAAAACTTGCTCCCTCTAGTACCCCTTCAAACATTGCCCCTTCTGATGTGGTTTCTAATATGACATTGATTAACTTCACACCCTCCCAGCTTCCTAATCATCCAAGTCTGTTAGATTTGGGGTCACTTAATACTTCATCTCACCGAACTGTCCCCAACATCATAAAAAGATCTAAATCTAGCATCATGTATTTTGAACCGGCACCCCTGTTACCACAGAGTGTGGGAGGAACTGCTGCCACAGCGGCAGGCACATCAACAATAAGCCAGGATACTAGCCACCTCACATCAGGGTCTGTGTCTGGCTTGGCATCCAGTTCCTCTGTCTTGAATGTTGTATCCATGCAAACTACCACAACCCCTACAAGTAGTGCGTCAGTTCCAGGACACGTCACCTTAACCAACCCAAGGTTGCTTGGTACCCCAGATATTGGCTCAATAAGCAATCTTTTAATCAAAGCTAGCCAGCAGAGCCTGGGGATTCAGGACCAGCCTGTGGCTTTACCGCCAAGTTCAGGAATGTTTCCACAACTGGGGACATCACAGACCCCCTCTACTGCTGCAATAACAGCGGCATCTAGCATCTGTGTGCTCCCCTCCACTCAGACTACGGGCATAACAGCCGCTTCACCTTCTGGGGAAGCAGACGAACACTATCAGCTTCAGCATGTGAACCAGCTCCTTGCCAGCAAAACTGGGATTCATTCTTCCCAGCGTGATCTTGATTCTGCTTCAGGGCCCCAGGTATCCAACTTTACCCAGACGGTAGACGCTCCTAATAGCATGGGACTGGAGCAGAACAAGGCTTTATCCTCAGCTGTGCAAGCCAGCCCCACCTCTCCTGGGGGTTCTCCATCCTCTCCATCTTCTGGACAGCGGTCAGCAAGCCCTTCAGTGCCGGGTCCCACTAAACCCAAACCAAAAACCAAACGGTTTCAGCTGCCTCTAGACAAAGGGAATGGCAAGAAGCACAAAGTTTCCCATTTGCGGACCAGTTCTTCTGAAGCACACATTCCAGACCAAGAAACGACATCCCTGACCTCAGGCACAGGGTGAGAGATCCAAATACTAGCTAGGCTGGGTCTGTGGGATTTCATGTTGTAAATTAGGGGCTGTTGATGTGGTAGTCCGGGAGAGACACTCTTCTGTTCAAGTTGCATTACCTGGGAGTTTTCCGGGTTTTGACTTTTTTTCTCTCTGAGTGGTGATTTATGTAACAAAATGTAGTTCCATCCATGGGCAGTTTGTCTCTTGAATAGAACCACATCTAATCACTTTTTGCTCTGATTTCAAACAGTGTTGCTGTTTGTTCCTGTTTCTTTTTTACTGAGGCTTATACTAGAATGATTATTCTTATCTTGAGGGCAAAGCTCCCTCTTGTAGATCCACAGAGTCCTTTTTTTAAAACTTTATCATTGAAAGCCAAGCACAGTGGCTCATGTCTGTAATCCCAGCACTTTGGAAGGCTGAGGCAGAAGGATTGCTGGAGCTCAGGAGTTCAAGATCAGTCTGTGCAACATAGTAAGACCCTGTCTCTACAAAAAATTTTTTAAAACAGCTGGGTGTGGTGTTGCACACCTGTAGCCCCAGCTATTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTAGAGGCTAAATGATCCATGGTCATGTCACTGCACTCCAGCCTAGGTGGAGTGCACCTATGTAGCCACCACTCGGATCAAGATACAGAACATTTCTAGCAACCCACAAGGGTGTCTTCTCTTATAAGGTCAGTGCCCCCTCAAAGTAACCATTATTCTAACCTTTATGACCTTAGGTCAGTTTTGCTGGCTTATAGACTTTATCAGATCCTGATAGAGCCATTTCTTTCGACTCACCTCCACATTCAGTACATATTTACTGGTGGTTTGTCTTGAAAAGATACAAATGCCTGTGTTCCAGGACTCCAGGAGCAGAGGCTGAGCAGCAGGATACAGCTAGCGTGGAGCAGTCCTCCCAGAAGGAGTGTGGGCAACCTGCAGGGTAAGCTGAAGAATTCGTCTTTTAAGACTAAGCTCTCAGTTTTGTCCACCTCATTTAAAAAATAGTTCTTCCAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTAGTAGTCTGGGAGGCCGAGGCAGGTGGATCACGAGGTTAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGAATTAGCCGGGCGTGATGGCGGGCGCCTGTAGTCCCA | CGTCGCAGTGCCCGTGCACGTTCTAACATGTTTTTTGGGCTTACCCCACTCTATGGAGTAAGATCCTATGGTGAAGAAGACATTCCATTCTACAGCAGCTCAACTGGGAAGAAGCGAGGCAAGAGATCAGCTGAAGGACAGGTGGATGGGGCCGATGACTTAAGCACTTCAGATGAAGACGACTTATACTATTACAACTTCACTAGAACAGTGATTTCTTCAGGTGGAGAGGAACGACTGGCATCCCATAATTTATTTCGGGAGGAGGAACAGTGTGATCTTCCAAAAATCTCACAGTTGGATGGTGTTGATGATGGGACAGAGAGTGATACTAGTGTCACAGCCACAACAAGGAAAAGCAGCCAGATTCCAAAAAGAAATGGTAAAGAAAATGGAACAGAGAACTTAAAGATTGATAGACCTGAAGATGCTGGGGAGAAAGAACATGTCACTAAGAGTTCTGTTGGCCACAAAAATGAGCCAAAGATGGATAACTGCCATTCTGTAAGCAGAGTTAAAACACAGGGACAAGATTCCTTGGAAGCTCAGCTCAGCTCATTGGAGTCAAGCCGCAGAGTCCACACAAGTACCCCCTCCGACAAAAATTTACTGGACACCTATAATACTGAGCTCCTGAAATCAGATTCAGACAATAACAACAGTGATGACTGTGGGAATATCCTGCCTTCAGACATTATGGACTTTGTACTAAAGAATACTCCATCCATGCAGGCTTTGGGTGAGAGCCCAGAGTCATCTTCATCAGAACTCCTGAATCTTGGTGAAGGATTGGGTCTTGACAGTAATCGTGAAAAAGACATGGGTCTTTTTGAAGTATTTTCTCAGCAGCTGCCTACAACAGAACCTGTGGATAGTAGTGTCTCTTCCTCTATCTCAGCAGAGGAACAGTTTGAGTTGCCTCTAGAGCTACCATCTGATCTGTCTGTCTTGACCACCCGGAGTCCCACTGTCCCCAGCCAGAATCCCAGTAGACTAGCTGTTATCTCAGACTCAGGGGAGAAGAGAGTAACCATCACAGAAAAATCTGTAGCCTCCTCTGAAAGTGACCCAGCACTGCTGAGCCCAGGAGTAGATCCAACTCCTGAAGGCCACATGACTCCTGATCATTTTATCCAAGGACACATGGATGCAGACCACATCTCTAGCCCTCCTTGTGGTTCAGTAGAGCAAGGTCATGGCAACAATCAGGATTTAACTAGGAACAGTAGCACCCCTGGCCTTCAGGTACCTGTTTCCCCAACTGTTCCCATCCAGAACCAGAAGTATGTGCCCAATTCTACTGATAGTCCTGGCCCGTCTCAGATTTCCAATGCAGCTGTCCAGACCACTCCACCCCACCTGAAGCCAGCCACTGAGAAACTCATAGTTGTTAACCAGAACATGCAGCCACTTTATGTTCTCCAAACTCTTCCAAATGGAGTGACCCAAAAAATCCAATTGACCTCTTCTGTTAGTTCTACACCCAGTGTGATGGAGACAAATACTTCAGTATTGGGACCCATGGGAGGTGGTCTCACCCTTACCACAGGACTAAATCCAAGCTTGCCAACTTCTCAATCTTTGTTCCCTTCTGCTAGCAAAGGATTGCTACCCATGTCTCATCACCAGCACTTACATTCCTTCCCTGCAGCTACTCAAAGTAGTTTCCCACCAAACATCAGCAATCCTCCTTCAGGCCTGCTTATTGGGGTTCAGCCTCCTCCGGATCCCCAACTTTTGGTTTCAGAATCCAGCCAGAGGACAGACCTCAGTACCACAGTAGCCACTCCATCCTCTGGACTCAAGAAAAGACCCATATCTCGTCTACAGACCCGAAAGAATAAAAAACTTGCTCCCTCTAGTACCCCTTCAAACATTGCCCCTTCTGATGTGGTTTCTAATATGACATTGATTAACTTCACACCCTCCCAGCTTCCTAATCATCCAAGTCTGTTAGATTTGGGGTCACTTAATACTTCATCTCACCGAACTGTCCCCAACATCATAAAAAGATCTAAATCTAGCATCATGTATTTTGAACCGGCACCCGTTACCACAGAGTGTGGGAGGAACTGCTGCCACAGCGGCAGGCACATCAACAATAAGCCAGGATACTAGCCACCTCACATCAGGGTCTGTGTCTGGCTTGGCATCCAGTTCCTCTGTCTTGAATGTTGTATCCATGCAAACTACCACAACCCCTACAAGTAGTGCGTCAGTTCCAGGACACGTCACCTTAACCAACCCAAGGTTGCTTGGTACCCCAGATATTGGCTCAATAAGCAATCTTTTAATCAAAGCTAGCCAGCAGAGCCTGGGGATTCAGGACCAGCCTGTGGCTTTACCGCCAAGTTCAGGAATGTTTCCACAACTGGGGACATCACAGACCCCCTCTACTGCTGCAATAACAGCGGCATCTAGCATCTGTGTGCTCCCCTCCACTCAGACTACGGGCATAACAGCCGCTTCACCTTCTGGGGAAGCAGACGAACACTATCAGCTTCAGCATGTGAACCAGCTCCTTGCCAGCAAAACTGGGATTCATTCTTCCCAGCGTGATCTTGATTCTGCTTCAGGGCCCCAGGTATCCAACTTTACCCAGACGGTAGACGCTCCTAATAGCATGGGACTGGAGCAGAACAAGGCTTTATCCTCAGCTGTGCAAGCCAGCCCCACCTCTCCTGGGGGTTCTCCATCCTCTCCATCTTCTGGACAGCGGTCAGCAAGCCCTTCAGTGCCGGGTCCCACTAAACCCAAACCAAAAACCAAACGGTTTCAGCTGCCTCTAGACAAAGGGAATGGCAAGAAGCACAAAGTTTCCCATTTGCGGACCAGTTCTTCTGAAGCACACATTCCAGACCAAGAAACGACATCCCTGACCTCAGGCACAGGGTGAGAGATCCAAATACTAGCTAGGCTGGGTCTGTGGGATTTCATGTTGTAAATTAGGGGCTGTTGATGTGGTAGTCCGGGAGAGACACTCTTCTGTTCAAGTTGCATTACCTGGGAGTTTTCCGGGTTTTGACTTTTTTTCTCTCTGAGTGGTGATTTATGTAACAAAATGTAGTTCCATCCATGGGCAGTTTGTCTCTTGAATAGAACCACATCTAATCACTTTTTGCTCTGATTTCAAACAGTGTTGCTGTTTGTTCCTGTTTCTTTTTTACTGAGGCTTATACTAGAATGATTATTCTTATCTTGAGGGCAAAGCTCCCTCTTGTAGATCCACAGAGTCCTTTTTTTAAAACTTTATCATTGAAAGCCAAGCACAGTGGCTCATGTCTGTAATCCCAGCACTTTGGAAGGCTGAGGCAGAAGGATTGCTGGAGCTCAGGAGTTCAAGATCAGTCTGTGCAACATAGTAAGACCCTGTCTCTACAAAAAATTTTTTAAAACAGCTGGGTGTGGTGTTGCACACCTGTAGCCCCAGCTATTCAGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTAGAGGCTAAATGATCCATGGTCATGTCACTGCACTCCAGCCTAGGTGGAGTGCACCTATGTAGCCACCACTCGGATCAAGATACAGAACATTTCTAGCAACCCACAAGGGTGTCTTCTCTTATAAGGTCAGTGCCCCCTCAAAGTAACCATTATTCTAACCTTTATGACCTTAGGTCAGTTTTGCTGGCTTATAGACTTTATCAGATCCTGATAGAGCCATTTCTTTCGACTCACCTCCACATTCAGTACATATTTACTGGTGGTTTGTCTTGAAAAGATACAAATGCCTGTGTTCCAGGACTCCAGGAGCAGAGGCTGAGCAGCAGGATACAGCTAGCGTGGAGCAGTCCTCCCAGAAGGAGTGTGGGCAACCTGCAGGGTAAGCTGAAGAATTCGTCTTTTAAGACTAAGCTCTCAGTTTTGTCCACCTCATTTAAAAAATAGTTCTTCCAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTAGTAGTCTGGGAGGCCGAGGCAGGTGGATCACGAGGTTAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGAATTAGCCGGGCGTGATGGCGGGCGCCTGTAGTCCCANN | pathogenic | 188,719 |
A genetic variant on chromosome 11, position 118519608, affects the gene KMT2A. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GTGCAGTGGCTCACACCTGTAATCCTACCTAGCAAGTTGGGAGGCCAAGGAAGGAGGATCACTCGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACACAGTAAGACCCTGTCTCCACAAGAAATTTAAAAATTAGCCAAACACAGTGGCATATATGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGCGGGAGCAGCTTGAGCCCAGAAATTCAAGGTTACAGTGAGCTATGATCATGCTACTGCACTCCAGCCTGGGCAACAAAGTGAAACCTGTCTCTTAGAAAAAGAATATTGCTTATCTAGAGACAACATTCTTTTTGTTTGTTTGTTTGTTTGTTTTTGAGATGAGGTCTCACTCTGTTGCCCAAGCTGGAGTGCAGTGGCATGATCGTCTGCTTTTTCATCTGCTATTTCCTCTGCACCAGGACATTACACCAAGGTTACATCTCTAAATATGCTTCATAATGCAAACTGTATGTCTGTTGGAATTGCATATGTGCAATTGCAGTCCTAATACAATTACACTTATGAAATGGATACCTGATCCAAAATTAACACCATTACTGTTTCTATATCTATTAATAATACCAAACCAGTATTCGTAAATGAAATAATATTGTTTACTTAATAAAAATGTAAAGAACATTAGCTATTTGCTAGTGTCAAAAAGAAGTGTGGCAGTTGTAATTGTGCCCTGTCCCTTTAATGGAAAAAGCCAAATAATTTTAAAATGAAAGCCTTTCACCATCAATGCCAGCAGACTTATATAAATGTTGTTTTCATAAAATAAAAATAAATAAAAAATGCTCATTAACAGCATGAGACGGTGAGTAGAACAAAGCAGCTACTGAGTGTATTACTCCACACATTCATCATAACAACACAAGAGTTCTGTGTTAGGGGTGTATTAACATTGCTTTTAAACTTTAGTGAGGCTGGCTGGGTGCTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGGCCAATATGGTGAAACCTTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGGTGACGTGCCCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGTTGTAGCGAGCTGAGATCGGACCACTGCACTCCAGCCTGGGTGACGGAGTTAGAGTCTGTCTCAAAAAAAAAAAAAAAGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCATTTTGGAAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACTCCGTCTCTACTAAAAATACGAAAAAAATTAGCCAGGCGTGGTGGCGGCGCCCGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGAAAATTAAACTTTAGTGAGGTATCTGGGGGAACATAAGCTTATAGAACCTAGATAATCCATTCCTAGATGGATTATATTTGTAGTTATGCAGTCCAGAGTTCATATCTTGTCAAATCATGTAGCCTTGGGAGTGTTACATCAGTTCTCTAAGCCTGTTTGCTCACCTGAAAATGAAGCTAGTAATTCCTGCCCTGTGTGGTCATTATGAGCACGAAATGAAATAACACGTGTATATAGCATTAGCATATAGCATTTCTGTGTAATAAAGCAAAATAGTCCATAGTTTGGTGGCATGCTTTTTTCACTTAGCCGTCTATCACAAACATTTTCCATATTGATAGATCTGTATCAGCATCATTTTAATGGCTATCTGATGCTAATTTCGAGCTAATATGTACTATAATTCACCCTGGAGCAGCCTCTGGCAGAGTGACTATAGCATAGGCATTTCTGTAGGACCATGCTGTTTCCTGTTGACTGCGCTCCTCACTTCCCTGGTGCTTCTGATTCTTCTAGGTGTTAACGGTTTGAGGATGCTGGGGATTCTCCATGATGCAGTTGTGTTCCTCATTGAGCAGCTGTCTGGTGCCAAGCACTGTCGAAATTACAAATTCCGTTTCCACAAGCCAGAGGAGGCCAATGAACCCCCCTTGAACCCTCACGGCTCAGCCAGGGCTGAAGTCCACCTCAGGCAAGTTCCCTTCTTTTCTGTCAGCAGTTTTGGGTCTCGATTTTCTTATCTCATGACACTGTCATCTTCCCACATACCCTTTGAGATTTCCAGTTTTAATGCCATCATCCTTTACTGCTTTATTAAAGCATTTCTCTAAATATGTTTTAATCTTTTGGCCCCAGGAAGTCAGCATTTGACATGTTTAACTTCCTGGCTTCTAAACATCGTCAGCCTCCTGAATACAACCCCAATGATGAAGAAGAGGAGGAGGTACAGCTGAAGTCAGCTCGGTAAGTCTTGAGTGGGGAGCAGTCATTAGAAACTGCTTTCCCTCTCCTCCAGCTGGTCAGGGCACTACGTAGGAATTTGTTTGCATCAGAATTTCCTGGATAAGATTTAAAAGGACTGAAAACCATTTGTGTTGAAGTAGCAGTAGGTGCCTGGTAAGGAGTGAGGAATATAAGGTACAGAGGAGAAATTCAAAGAACTGTAAGATGCCTGTTTTCTTTAATGATAGTATACTCTGTCAGCTTTGGTTGTACCACCATAGTTGTCATGGTCAGAAAGTACTATATATACTAAAAATGGGACTCATTGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGAAGTCCGAGGCGGACAGATCATGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAGTGAAACCCTATCTCTACTAAAAATACAAAAATTAGCCCGGCGTGGTGGCGCGCGCCTGTAGTCCCACCTACTCAGCAGGCTGAGGCAAGAGAATCGCTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCGCACCACTGGACTCCAGCCTGGGCGACAGAGCGAAACTCCATCTCAAAAAAAAAAGGGGGGCGCTCATTTTATAAGGCACTCGTTCAGTTTGGCATTAAACAAAGAGTGTACTAATTGTCTCTAGGAACCTTCGATTCAAGACTCAAAACATTATTTCCTGAAAAAAATTCGTTAATAGTATGTCTTATCTCTTAGGAGGGCAACTAGCATGGATCTGCCAATGCCCATGCGCTTCCGGCACTTAAAAAAGACTTCTAAGGAGGCAGTTGGTGTCTACAGGTATGACTAAAATTCTAGAAAGAATTACAGAAAACGAATGCAGTTTTTCAAAATCAAAGCAGACCAAATGCTGGAGTGACCTTCCTCACTCAGTAAGTGAGGATTTTACGGACACTATTTATTGACCCTCATATCCTGGGATCCTGCACCTCCTTGTGTTGAACAAGGACTTTAACATAATAAGCATTAAAATATTACTGCTTCCAGCGGGTCACAGAATGGAAATAACTTTCATCTTTGGCCATGTGTTAGATGGCCAAATCAAGTGGGTCCAAATTTTTATTTTCTCAAGTATATGTCCCTCCTGGGGAACTAACAGACCAGGAGAACTTATTCATGTATTCACGCACTTAACCTTACTTGCAAAATTTGTGTCTGACCTCTTTTCCATCTTTGTCCTAGGTCTCCCATCCATGGCCGGGGTCTTTTCTGTAAGAGAAACATTGATGCAGGTGAGATGGTGATTGAGTATGCCGGCAACGTCATCCGCTCCATCCAGACTGACAAGCGGGAAAAGTATTACGACAGCAAGGTAAGTCTCCCACTTGCACTCACACAGTTCTTTTGTTTTGCTGTAGAAAGGGACCAGTATGACCCCTGGATCACAAAAGAAATAGTGTATGTTATCAATTCAGAGACCTTTCTTAAAAAAATAAACTCTGAAATTTGTGAGGGGCCCAGTAAAAATACAGAATCCACTCTGAGGATTAGTACAGAAAGTTGCTCTTAGAAGGTTTGTCTGAGTGGCTCCTAGTATCAGAAGCAAATAG | GTGCAGTGGCTCACACCTGTAATCCTACCTAGCAAGTTGGGAGGCCAAGGAAGGAGGATCACTCGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACACAGTAAGACCCTGTCTCCACAAGAAATTTAAAAATTAGCCAAACACAGTGGCATATATGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGCGGGAGCAGCTTGAGCCCAGAAATTCAAGGTTACAGTGAGCTATGATCATGCTACTGCACTCCAGCCTGGGCAACAAAGTGAAACCTGTCTCTTAGAAAAAGAATATTGCTTATCTAGAGACAACATTCTTTTTGTTTGTTTGTTTGTTTGTTTTTGAGATGAGGTCTCACTCTGTTGCCCAAGCTGGAGTGCAGTGGCATGATCGTCTGCTTTTTCATCTGCTATTTCCTCTGCACCAGGACATTACACCAAGGTTACATCTCTAAATATGCTTCATAATGCAAACTGTATGTCTGTTGGAATTGCATATGTGCAATTGCAGTCCTAATACAATTACACTTATGAAATGGATACCTGATCCAAAATTAACACCATTACTGTTTCTATATCTATTAATAATACCAAACCAGTATTCGTAAATGAAATAATATTGTTTACTTAATAAAAATGTAAAGAACATTAGCTATTTGCTAGTGTCAAAAAGAAGTGTGGCAGTTGTAATTGTGCCCTGTCCCTTTAATGGAAAAAGCCAAATAATTTTAAAATGAAAGCCTTTCACCATCAATGCCAGCAGACTTATATAAATGTTGTTTTCATAAAATAAAAATAAATAAAAAATGCTCATTAACAGCATGAGACGGTGAGTAGAACAAAGCAGCTACTGAGTGTATTACTCCACACATTCATCATAACAACACAAGAGTTCTGTGTTAGGGGTGTATTAACATTGCTTTTAAACTTTAGTGAGGCTGGCTGGGTGCTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGGCCAATATGGTGAAACCTTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGGTGACGTGCCCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGTTGTAGCGAGCTGAGATCGGACCACTGCACTCCAGCCTGGGTGACGGAGTTAGAGTCTGTCTCAAAAAAAAAAAAAAAGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCATTTTGGAAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACTCCGTCTCTACTAAAAATACGAAAAAAATTAGCCAGGCGTGGTGGCGGCGCCCGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGAAAATTAAACTTTAGTGAGGTATCTGGGGGAACATAAGCTTATAGAACCTAGATAATCCATTCCTAGATGGATTATATTTGTAGTTATGCAGTCCAGAGTTCATATCTTGTCAAATCATGTAGCCTTGGGAGTGTTACATCAGTTCTCTAAGCCTGTTTGCTCACCTGAAAATGAAGCTAGTAATTCCTGCCCTGTGTGGTCATTATGAGCACGAAATGAAATAACACGTGTATATAGCATTAGCATATAGCATTTCTGTGTAATAAAGCAAAATAGTCCATAGTTTGGTGGCATGCTTTTTTCACTTAGCCGTCTATCACAAACATTTTCCATATTGATAGATCTGTATCAGCATCATTTTAATGGCTATCTGATGCTAATTTCGAGCTAATATGTACTATAATTCACCCTGGAGCAGCCTCTGGCAGAGTGACTATAGCATAGGCATTTCTGTAGGACCATGCTGTTTCCTGTTGACTGCGCTCCTCACTTCCCTGGTGCTTCTGATTCTAGGTGTTAACGGTTTGAGGATGCTGGGGATTCTCCATGATGCAGTTGTGTTCCTCATTGAGCAGCTGTCTGGTGCCAAGCACTGTCGAAATTACAAATTCCGTTTCCACAAGCCAGAGGAGGCCAATGAACCCCCCTTGAACCCTCACGGCTCAGCCAGGGCTGAAGTCCACCTCAGGCAAGTTCCCTTCTTTTCTGTCAGCAGTTTTGGGTCTCGATTTTCTTATCTCATGACACTGTCATCTTCCCACATACCCTTTGAGATTTCCAGTTTTAATGCCATCATCCTTTACTGCTTTATTAAAGCATTTCTCTAAATATGTTTTAATCTTTTGGCCCCAGGAAGTCAGCATTTGACATGTTTAACTTCCTGGCTTCTAAACATCGTCAGCCTCCTGAATACAACCCCAATGATGAAGAAGAGGAGGAGGTACAGCTGAAGTCAGCTCGGTAAGTCTTGAGTGGGGAGCAGTCATTAGAAACTGCTTTCCCTCTCCTCCAGCTGGTCAGGGCACTACGTAGGAATTTGTTTGCATCAGAATTTCCTGGATAAGATTTAAAAGGACTGAAAACCATTTGTGTTGAAGTAGCAGTAGGTGCCTGGTAAGGAGTGAGGAATATAAGGTACAGAGGAGAAATTCAAAGAACTGTAAGATGCCTGTTTTCTTTAATGATAGTATACTCTGTCAGCTTTGGTTGTACCACCATAGTTGTCATGGTCAGAAAGTACTATATATACTAAAAATGGGACTCATTGGCCAGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGAAGTCCGAGGCGGACAGATCATGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAGTGAAACCCTATCTCTACTAAAAATACAAAAATTAGCCCGGCGTGGTGGCGCGCGCCTGTAGTCCCACCTACTCAGCAGGCTGAGGCAAGAGAATCGCTTGAACCCAGGAGGCGGAGGTTACAGTGAGCCGAGATCGCACCACTGGACTCCAGCCTGGGCGACAGAGCGAAACTCCATCTCAAAAAAAAAAGGGGGGCGCTCATTTTATAAGGCACTCGTTCAGTTTGGCATTAAACAAAGAGTGTACTAATTGTCTCTAGGAACCTTCGATTCAAGACTCAAAACATTATTTCCTGAAAAAAATTCGTTAATAGTATGTCTTATCTCTTAGGAGGGCAACTAGCATGGATCTGCCAATGCCCATGCGCTTCCGGCACTTAAAAAAGACTTCTAAGGAGGCAGTTGGTGTCTACAGGTATGACTAAAATTCTAGAAAGAATTACAGAAAACGAATGCAGTTTTTCAAAATCAAAGCAGACCAAATGCTGGAGTGACCTTCCTCACTCAGTAAGTGAGGATTTTACGGACACTATTTATTGACCCTCATATCCTGGGATCCTGCACCTCCTTGTGTTGAACAAGGACTTTAACATAATAAGCATTAAAATATTACTGCTTCCAGCGGGTCACAGAATGGAAATAACTTTCATCTTTGGCCATGTGTTAGATGGCCAAATCAAGTGGGTCCAAATTTTTATTTTCTCAAGTATATGTCCCTCCTGGGGAACTAACAGACCAGGAGAACTTATTCATGTATTCACGCACTTAACCTTACTTGCAAAATTTGTGTCTGACCTCTTTTCCATCTTTGTCCTAGGTCTCCCATCCATGGCCGGGGTCTTTTCTGTAAGAGAAACATTGATGCAGGTGAGATGGTGATTGAGTATGCCGGCAACGTCATCCGCTCCATCCAGACTGACAAGCGGGAAAAGTATTACGACAGCAAGGTAAGTCTCCCACTTGCACTCACACAGTTCTTTTGTTTTGCTGTAGAAAGGGACCAGTATGACCCCTGGATCACAAAAGAAATAGTGTATGTTATCAATTCAGAGACCTTTCTTAAAAAAATAAACTCTGAAATTTGTGAGGGGCCCAGTAAAAATACAGAATCCACTCTGAGGATTAGTACAGAAAGTTGCTCTTAGAAGGTTTGTCTGAGTGGCTCCTAGTATCAGAAGCAAATAGNNN | benign | 188,756 |
Gene mutation in SLC37A4 (solute carrier family 37 member 4) at chromosome 11, position 119025024—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Glucose-6-phosphate_transport_defect'] | TTTTTGAGACTGAGCTTCACTCTTAACCACCCAGGCTGGAATGCAATGGTGCCATCACGGCTCACCACAACCTCTGCCTTCCGGGTTCAGGCGATTCTTTTGTCTCAGCCTCCGGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTAGTCTCAAAGTCCTGACCTCAGCTGATCCGCCCACCTCAGCCTTCCATGATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAGGCTGAACCTGTTATGGACCCCCAAATTCTGAGAGTTCCTGCAACAAGAATACTGCTGTTGACACTCCAGTGGAAATCCCAGCAGCCTTGTTAGTGCACTTGAAAGTGGGAGAATGCTGACCCTGATGACTTGTACTGATTCCTGAGCCTTAACACTGTGCTCTTTCCTTCTGTATATACCATGGTCTTACTTTCCAACTCTGTACAGATTTATTTATGGAGGAGCTAGGTCCATAAATGTTGTAATAAATATTCCTTTGATCTTGGTGTTTGCAATCTGTCTTAATCGATGGTTTTGGGGGAAAGATACAGGAAGTGAGTCAAAAATGGTTAGGGAATTCTGGGAAGATGATTATGTGCTAGTAAAAAACATAACAAATATGTGTTCATTAAATAAATGAACATAAGATTTTGAAGCATGAGCATTGGATCTAGTCCCAGAATTGCTGCTGATTTCCTGGGGTCCTGGGGTGGTGGCAGCAGTGGTGGTGGCTGTTATGATGATGATGATGATGGAACATATTTCAAGCACTTACAGCCAGGCATTCCTGCTTTATCTCACTTGATCTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTATTGACAATATTTCCCAAGGAAGCTGTCTCACTTTGAAAAAATGAATCACTGACAGTGTTCAGTATCAAATCTAGTTTTAATCTTCTATAACAAGTCACCTTTTCTTCCCACCTATATCCAACTGCGCCTAGTGGTACAGTGAGAATGATGGCCTCCTCTCTTTCCCTGGAGTCTGAGGTATTGGCAACAGCAGTCACCCACTGCTGAGAGGACTTAGGACCCAGCAGAAGTCAAGGGTCATTAGTGCCCTGCAGCTGCAGGGATAGCCTCACTTCAGGTGGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCA | TTTTTGAGACTGAGCTTCACTCTTAACCACCCAGGCTGGAATGCAATGGTGCCATCACGGCTCACCACAACCTCTGCCTTCCGGGTTCAGGCGATTCTTTTGTCTCAGCCTCCGGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTAGTCTCAAAGTCCTGACCTCAGCTGATCCGCCCACCTCAGCCTTCCATGATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAGGCTGAACCTGTTATGGACCCCCAAATTCTGAGAGTTCCTGCAACAAGAATACTGCTGTTGACACTCCAGTGGAAATCCCAGCAGCCTTGTTAGTGCACTTGAAAGTGGGAGAATGCTGACCCTGATGACTTGTACTGATTCCTGAGCCTTAACACTGTGCTCTTTCCTTCTGTATATACCATGGTCTTACTTTCCAACTCTGTACAGATTTATTTATGGAGGAGCTAGGTCCATAAATGTTGTAATAAATATTCCTTTGATCTTGGTGTTTGCAATCTGTCTTAATCGATGGTTTTGGGGGAAAGATACAGGAAGTGAGTCAAAAATGGTTAGGGAATTCTGGGAAGATGATTATGTGCTAGTAAAAAACATAACAAATATGTGTTCATTAAATAAATGAACATAAGATTTTGAAGCATGAGCATTGGATCTAGTCCCAGAATTGCTGCTGATTTCCTGGGGTCCTGGGGTGGTGGCAGCAGTGGTGGTGGCTGTTATGATGATGATGATGATGGAACATATTTCAAGCACTTACAGCCAGGCATTCCTGCTTTATCTCACTTGATCTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTATTGACAATATTTCCCAAGGAAGCTGTCTCACTTTGAAAAAATGAATCACTGACAGTGTTCAGTATCAAATCTAGTTTTAATCTTCTATAACAAGTCACCTTTTCTTCCCACCTATATCCAACTGCGCCTAGTGGTACAGTGAGAATGATGGCCTCCTCTCTTTCCCTGGAGTCTGAGGTATTGGCAACAGCAGTCACCCACTGCTGAGAGGACTTAGGACCCAGCAGAAGTCAAGGGTCATTAGTGCCCTGCAGCTGCAGGGATAGCCTCACTTCAGGTGGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAATGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAN | pathogenic | 188,847 |
Located at chromosome 11 position 119025050, the variant affecting gene SLC37A4 (solute carrier family 37 member 4)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | CCACCCAGGCTGGAATGCAATGGTGCCATCACGGCTCACCACAACCTCTGCCTTCCGGGTTCAGGCGATTCTTTTGTCTCAGCCTCCGGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTAGTCTCAAAGTCCTGACCTCAGCTGATCCGCCCACCTCAGCCTTCCATGATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAGGCTGAACCTGTTATGGACCCCCAAATTCTGAGAGTTCCTGCAACAAGAATACTGCTGTTGACACTCCAGTGGAAATCCCAGCAGCCTTGTTAGTGCACTTGAAAGTGGGAGAATGCTGACCCTGATGACTTGTACTGATTCCTGAGCCTTAACACTGTGCTCTTTCCTTCTGTATATACCATGGTCTTACTTTCCAACTCTGTACAGATTTATTTATGGAGGAGCTAGGTCCATAAATGTTGTAATAAATATTCCTTTGATCTTGGTGTTTGCAATCTGTCTTAATCGATGGTTTTGGGGGAAAGATACAGGAAGTGAGTCAAAAATGGTTAGGGAATTCTGGGAAGATGATTATGTGCTAGTAAAAAACATAACAAATATGTGTTCATTAAATAAATGAACATAAGATTTTGAAGCATGAGCATTGGATCTAGTCCCAGAATTGCTGCTGATTTCCTGGGGTCCTGGGGTGGTGGCAGCAGTGGTGGTGGCTGTTATGATGATGATGATGATGGAACATATTTCAAGCACTTACAGCCAGGCATTCCTGCTTTATCTCACTTGATCTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTATTGACAATATTTCCCAAGGAAGCTGTCTCACTTTGAAAAAATGAATCACTGACAGTGTTCAGTATCAAATCTAGTTTTAATCTTCTATAACAAGTCACCTTTTCTTCCCACCTATATCCAACTGCGCCTAGTGGTACAGTGAGAATGATGGCCTCCTCTCTTTCCCTGGAGTCTGAGGTATTGGCAACAGCAGTCACCCACTGCTGAGAGGACTTAGGACCCAGCAGAAGTCAAGGGTCATTAGTGCCCTGCAGCTGCAGGGATAGCCTCACTTCAGGTGGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCT | CCACCCAGGCTGGAATGCAATGGTGCCATCACGGCTCACCACAACCTCTGCCTTCCGGGTTCAGGCGATTCTTTTGTCTCAGCCTCCGGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTAGTCTCAAAGTCCTGACCTCAGCTGATCCGCCCACCTCAGCCTTCCATGATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAGGCTGAACCTGTTATGGACCCCCAAATTCTGAGAGTTCCTGCAACAAGAATACTGCTGTTGACACTCCAGTGGAAATCCCAGCAGCCTTGTTAGTGCACTTGAAAGTGGGAGAATGCTGACCCTGATGACTTGTACTGATTCCTGAGCCTTAACACTGTGCTCTTTCCTTCTGTATATACCATGGTCTTACTTTCCAACTCTGTACAGATTTATTTATGGAGGAGCTAGGTCCATAAATGTTGTAATAAATATTCCTTTGATCTTGGTGTTTGCAATCTGTCTTAATCGATGGTTTTGGGGGAAAGATACAGGAAGTGAGTCAAAAATGGTTAGGGAATTCTGGGAAGATGATTATGTGCTAGTAAAAAACATAACAAATATGTGTTCATTAAATAAATGAACATAAGATTTTGAAGCATGAGCATTGGATCTAGTCCCAGAATTGCTGCTGATTTCCTGGGGTCCTGGGGTGGTGGCAGCAGTGGTGGTGGCTGTTATGATGATGATGATGATGGAACATATTTCAAGCACTTACAGCCAGGCATTCCTGCTTTATCTCACTTGATCTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTATTGACAATATTTCCCAAGGAAGCTGTCTCACTTTGAAAAAATGAATCACTGACAGTGTTCAGTATCAAATCTAGTTTTAATCTTCTATAACAAGTCACCTTTTCTTCCCACCTATATCCAACTGCGCCTAGTGGTACAGTGAGAATGATGGCCTCCTCTCTTTCCCTGGAGTCTGAGGTATTGGCAACAGCAGTCACCCACTGCTGAGAGGACTTAGGACCCAGCAGAAGTCAAGGGTCATTAGTGCCCTGCAGCTGCAGGGATAGCCTCACTTCAGGTGGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTN | pathogenic | 188,849 |
Chromosome 11, position 119025184, gene SLC37A4 (solute carrier family 37 member 4): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Glucose-6-phosphate_transport_defect', 'Phosphate_transport_defect'] | TGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTAGTCTCAAAGTCCTGACCTCAGCTGATCCGCCCACCTCAGCCTTCCATGATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAGGCTGAACCTGTTATGGACCCCCAAATTCTGAGAGTTCCTGCAACAAGAATACTGCTGTTGACACTCCAGTGGAAATCCCAGCAGCCTTGTTAGTGCACTTGAAAGTGGGAGAATGCTGACCCTGATGACTTGTACTGATTCCTGAGCCTTAACACTGTGCTCTTTCCTTCTGTATATACCATGGTCTTACTTTCCAACTCTGTACAGATTTATTTATGGAGGAGCTAGGTCCATAAATGTTGTAATAAATATTCCTTTGATCTTGGTGTTTGCAATCTGTCTTAATCGATGGTTTTGGGGGAAAGATACAGGAAGTGAGTCAAAAATGGTTAGGGAATTCTGGGAAGATGATTATGTGCTAGTAAAAAACATAACAAATATGTGTTCATTAAATAAATGAACATAAGATTTTGAAGCATGAGCATTGGATCTAGTCCCAGAATTGCTGCTGATTTCCTGGGGTCCTGGGGTGGTGGCAGCAGTGGTGGTGGCTGTTATGATGATGATGATGATGGAACATATTTCAAGCACTTACAGCCAGGCATTCCTGCTTTATCTCACTTGATCTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTATTGACAATATTTCCCAAGGAAGCTGTCTCACTTTGAAAAAATGAATCACTGACAGTGTTCAGTATCAAATCTAGTTTTAATCTTCTATAACAAGTCACCTTTTCTTCCCACCTATATCCAACTGCGCCTAGTGGTACAGTGAGAATGATGGCCTCCTCTCTTTCCCTGGAGTCTGAGGTATTGGCAACAGCAGTCACCCACTGCTGAGAGGACTTAGGACCCAGCAGAAGTCAAGGGTCATTAGTGCCCTGCAGCTGCAGGGATAGCCTCACTTCAGGTGGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCA | TGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTAGTCTCAAAGTCCTGACCTCAGCTGATCCGCCCACCTCAGCCTTCCATGATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAGGCTGAACCTGTTATGGACCCCCAAATTCTGAGAGTTCCTGCAACAAGAATACTGCTGTTGACACTCCAGTGGAAATCCCAGCAGCCTTGTTAGTGCACTTGAAAGTGGGAGAATGCTGACCCTGATGACTTGTACTGATTCCTGAGCCTTAACACTGTGCTCTTTCCTTCTGTATATACCATGGTCTTACTTTCCAACTCTGTACAGATTTATTTATGGAGGAGCTAGGTCCATAAATGTTGTAATAAATATTCCTTTGATCTTGGTGTTTGCAATCTGTCTTAATCGATGGTTTTGGGGGAAAGATACAGGAAGTGAGTCAAAAATGGTTAGGGAATTCTGGGAAGATGATTATGTGCTAGTAAAAAACATAACAAATATGTGTTCATTAAATAAATGAACATAAGATTTTGAAGCATGAGCATTGGATCTAGTCCCAGAATTGCTGCTGATTTCCTGGGGTCCTGGGGTGGTGGCAGCAGTGGTGGTGGCTGTTATGATGATGATGATGATGGAACATATTTCAAGCACTTACAGCCAGGCATTCCTGCTTTATCTCACTTGATCTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTATTGACAATATTTCCCAAGGAAGCTGTCTCACTTTGAAAAAATGAATCACTGACAGTGTTCAGTATCAAATCTAGTTTTAATCTTCTATAACAAGTCACCTTTTCTTCCCACCTATATCCAACTGCGCCTAGTGGTACAGTGAGAATGATGGCCTCCTCTCTTTCCCTGGAGTCTGAGGTATTGGCAACAGCAGTCACCCACTGCTGAGAGGACTTAGGACCCAGCAGAAGTCAAGGGTCATTAGTGCCCTGCAGCTGCAGGGATAGCCTCACTTCAGGTGGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCANNNN | pathogenic | 188,855 |
Does the variant impacting SLC37A4 (solute carrier family 37 member 4) on chromosome 11, position 119025248, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | GCTGATCCGCCCACCTCAGCCTTCCATGATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAGGCTGAACCTGTTATGGACCCCCAAATTCTGAGAGTTCCTGCAACAAGAATACTGCTGTTGACACTCCAGTGGAAATCCCAGCAGCCTTGTTAGTGCACTTGAAAGTGGGAGAATGCTGACCCTGATGACTTGTACTGATTCCTGAGCCTTAACACTGTGCTCTTTCCTTCTGTATATACCATGGTCTTACTTTCCAACTCTGTACAGATTTATTTATGGAGGAGCTAGGTCCATAAATGTTGTAATAAATATTCCTTTGATCTTGGTGTTTGCAATCTGTCTTAATCGATGGTTTTGGGGGAAAGATACAGGAAGTGAGTCAAAAATGGTTAGGGAATTCTGGGAAGATGATTATGTGCTAGTAAAAAACATAACAAATATGTGTTCATTAAATAAATGAACATAAGATTTTGAAGCATGAGCATTGGATCTAGTCCCAGAATTGCTGCTGATTTCCTGGGGTCCTGGGGTGGTGGCAGCAGTGGTGGTGGCTGTTATGATGATGATGATGATGGAACATATTTCAAGCACTTACAGCCAGGCATTCCTGCTTTATCTCACTTGATCTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTATTGACAATATTTCCCAAGGAAGCTGTCTCACTTTGAAAAAATGAATCACTGACAGTGTTCAGTATCAAATCTAGTTTTAATCTTCTATAACAAGTCACCTTTTCTTCCCACCTATATCCAACTGCGCCTAGTGGTACAGTGAGAATGATGGCCTCCTCTCTTTCCCTGGAGTCTGAGGTATTGGCAACAGCAGTCACCCACTGCTGAGAGGACTTAGGACCCAGCAGAAGTCAAGGGTCATTAGTGCCCTGCAGCTGCAGGGATAGCCTCACTTCAGGTGGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAG | GCTGATCCGCCCACCTCAGCCTTCCATGATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAGGCTGAACCTGTTATGGACCCCCAAATTCTGAGAGTTCCTGCAACAAGAATACTGCTGTTGACACTCCAGTGGAAATCCCAGCAGCCTTGTTAGTGCACTTGAAAGTGGGAGAATGCTGACCCTGATGACTTGTACTGATTCCTGAGCCTTAACACTGTGCTCTTTCCTTCTGTATATACCATGGTCTTACTTTCCAACTCTGTACAGATTTATTTATGGAGGAGCTAGGTCCATAAATGTTGTAATAAATATTCCTTTGATCTTGGTGTTTGCAATCTGTCTTAATCGATGGTTTTGGGGGAAAGATACAGGAAGTGAGTCAAAAATGGTTAGGGAATTCTGGGAAGATGATTATGTGCTAGTAAAAAACATAACAAATATGTGTTCATTAAATAAATGAACATAAGATTTTGAAGCATGAGCATTGGATCTAGTCCCAGAATTGCTGCTGATTTCCTGGGGTCCTGGGGTGGTGGCAGCAGTGGTGGTGGCTGTTATGATGATGATGATGATGGAACATATTTCAAGCACTTACAGCCAGGCATTCCTGCTTTATCTCACTTGATCTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTATTGACAATATTTCCCAAGGAAGCTGTCTCACTTTGAAAAAATGAATCACTGACAGTGTTCAGTATCAAATCTAGTTTTAATCTTCTATAACAAGTCACCTTTTCTTCCCACCTATATCCAACTGCGCCTAGTGGTACAGTGAGAATGATGGCCTCCTCTCTTTCCCTGGAGTCTGAGGTATTGGCAACAGCAGTCACCCACTGCTGAGAGGACTTAGGACCCAGCAGAAGTCAAGGGTCATTAGTGCCCTGCAGCTGCAGGGATAGCCTCACTTCAGGTGGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGN | pathogenic | 188,863 |
Classify the chromosome 11 variant at position 119025270 affecting gene SLC37A4 (solute carrier family 37 member 4) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Congenital_disorder_of_glycosylation,_type_IIw', 'Glucose-6-phosphate_transport_defect', 'Glycogen_storage_disease', 'Glycogen_storage_disease,_type_I', 'Inborn_genetic_diseases', 'Phosphate_transport_defect'] | TCCATGATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAGGCTGAACCTGTTATGGACCCCCAAATTCTGAGAGTTCCTGCAACAAGAATACTGCTGTTGACACTCCAGTGGAAATCCCAGCAGCCTTGTTAGTGCACTTGAAAGTGGGAGAATGCTGACCCTGATGACTTGTACTGATTCCTGAGCCTTAACACTGTGCTCTTTCCTTCTGTATATACCATGGTCTTACTTTCCAACTCTGTACAGATTTATTTATGGAGGAGCTAGGTCCATAAATGTTGTAATAAATATTCCTTTGATCTTGGTGTTTGCAATCTGTCTTAATCGATGGTTTTGGGGGAAAGATACAGGAAGTGAGTCAAAAATGGTTAGGGAATTCTGGGAAGATGATTATGTGCTAGTAAAAAACATAACAAATATGTGTTCATTAAATAAATGAACATAAGATTTTGAAGCATGAGCATTGGATCTAGTCCCAGAATTGCTGCTGATTTCCTGGGGTCCTGGGGTGGTGGCAGCAGTGGTGGTGGCTGTTATGATGATGATGATGATGGAACATATTTCAAGCACTTACAGCCAGGCATTCCTGCTTTATCTCACTTGATCTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTATTGACAATATTTCCCAAGGAAGCTGTCTCACTTTGAAAAAATGAATCACTGACAGTGTTCAGTATCAAATCTAGTTTTAATCTTCTATAACAAGTCACCTTTTCTTCCCACCTATATCCAACTGCGCCTAGTGGTACAGTGAGAATGATGGCCTCCTCTCTTTCCCTGGAGTCTGAGGTATTGGCAACAGCAGTCACCCACTGCTGAGAGGACTTAGGACCCAGCAGAAGTCAAGGGTCATTAGTGCCCTGCAGCTGCAGGGATAGCCTCACTTCAGGTGGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAA | TCCATGATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAGGCTGAACCTGTTATGGACCCCCAAATTCTGAGAGTTCCTGCAACAAGAATACTGCTGTTGACACTCCAGTGGAAATCCCAGCAGCCTTGTTAGTGCACTTGAAAGTGGGAGAATGCTGACCCTGATGACTTGTACTGATTCCTGAGCCTTAACACTGTGCTCTTTCCTTCTGTATATACCATGGTCTTACTTTCCAACTCTGTACAGATTTATTTATGGAGGAGCTAGGTCCATAAATGTTGTAATAAATATTCCTTTGATCTTGGTGTTTGCAATCTGTCTTAATCGATGGTTTTGGGGGAAAGATACAGGAAGTGAGTCAAAAATGGTTAGGGAATTCTGGGAAGATGATTATGTGCTAGTAAAAAACATAACAAATATGTGTTCATTAAATAAATGAACATAAGATTTTGAAGCATGAGCATTGGATCTAGTCCCAGAATTGCTGCTGATTTCCTGGGGTCCTGGGGTGGTGGCAGCAGTGGTGGTGGCTGTTATGATGATGATGATGATGGAACATATTTCAAGCACTTACAGCCAGGCATTCCTGCTTTATCTCACTTGATCTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTATTGACAATATTTCCCAAGGAAGCTGTCTCACTTTGAAAAAATGAATCACTGACAGTGTTCAGTATCAAATCTAGTTTTAATCTTCTATAACAAGTCACCTTTTCTTCCCACCTATATCCAACTGCGCCTAGTGGTACAGTGAGAATGATGGCCTCCTCTCTTTCCCTGGAGTCTGAGGTATTGGCAACAGCAGTCACCCACTGCTGAGAGGACTTAGGACCCAGCAGAAGTCAAGGGTCATTAGTGCCCTGCAGCTGCAGGGATAGCCTCACTTCAGGTGGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAANN | pathogenic | 188,866 |
Does the variant impacting SLC37A4 (solute carrier family 37 member 4) on chromosome 11, position 119025275, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | GATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAGGCTGAACCTGTTATGGACCCCCAAATTCTGAGAGTTCCTGCAACAAGAATACTGCTGTTGACACTCCAGTGGAAATCCCAGCAGCCTTGTTAGTGCACTTGAAAGTGGGAGAATGCTGACCCTGATGACTTGTACTGATTCCTGAGCCTTAACACTGTGCTCTTTCCTTCTGTATATACCATGGTCTTACTTTCCAACTCTGTACAGATTTATTTATGGAGGAGCTAGGTCCATAAATGTTGTAATAAATATTCCTTTGATCTTGGTGTTTGCAATCTGTCTTAATCGATGGTTTTGGGGGAAAGATACAGGAAGTGAGTCAAAAATGGTTAGGGAATTCTGGGAAGATGATTATGTGCTAGTAAAAAACATAACAAATATGTGTTCATTAAATAAATGAACATAAGATTTTGAAGCATGAGCATTGGATCTAGTCCCAGAATTGCTGCTGATTTCCTGGGGTCCTGGGGTGGTGGCAGCAGTGGTGGTGGCTGTTATGATGATGATGATGATGGAACATATTTCAAGCACTTACAGCCAGGCATTCCTGCTTTATCTCACTTGATCTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTATTGACAATATTTCCCAAGGAAGCTGTCTCACTTTGAAAAAATGAATCACTGACAGTGTTCAGTATCAAATCTAGTTTTAATCTTCTATAACAAGTCACCTTTTCTTCCCACCTATATCCAACTGCGCCTAGTGGTACAGTGAGAATGATGGCCTCCTCTCTTTCCCTGGAGTCTGAGGTATTGGCAACAGCAGTCACCCACTGCTGAGAGGACTTAGGACCCAGCAGAAGTCAAGGGTCATTAGTGCCCTGCAGCTGCAGGGATAGCCTCACTTCAGGTGGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCA | GATATATGTTGTTCTTCAAGCAGTTTCCCCTGGCTTAAGTGGGGAGAAAGCCTCAGGCCTCACACTTTTTTTCCTCACCCTGGGCCCGGCTTAGGTGTGAGCTCTTTGACCAGAACCTGAAGCTAGCTCTGGAGGTGGCAGAGAAGGCTGGAACTTTTGGACCTGGGTCATAGGCTGAACCTGTTATGGACCCCCAAATTCTGAGAGTTCCTGCAACAAGAATACTGCTGTTGACACTCCAGTGGAAATCCCAGCAGCCTTGTTAGTGCACTTGAAAGTGGGAGAATGCTGACCCTGATGACTTGTACTGATTCCTGAGCCTTAACACTGTGCTCTTTCCTTCTGTATATACCATGGTCTTACTTTCCAACTCTGTACAGATTTATTTATGGAGGAGCTAGGTCCATAAATGTTGTAATAAATATTCCTTTGATCTTGGTGTTTGCAATCTGTCTTAATCGATGGTTTTGGGGGAAAGATACAGGAAGTGAGTCAAAAATGGTTAGGGAATTCTGGGAAGATGATTATGTGCTAGTAAAAAACATAACAAATATGTGTTCATTAAATAAATGAACATAAGATTTTGAAGCATGAGCATTGGATCTAGTCCCAGAATTGCTGCTGATTTCCTGGGGTCCTGGGGTGGTGGCAGCAGTGGTGGTGGCTGTTATGATGATGATGATGATGGAACATATTTCAAGCACTTACAGCCAGGCATTCCTGCTTTATCTCACTTGATCTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTATTGACAATATTTCCCAAGGAAGCTGTCTCACTTTGAAAAAATGAATCACTGACAGTGTTCAGTATCAAATCTAGTTTTAATCTTCTATAACAAGTCACCTTTTCTTCCCACCTATATCCAACTGCGCCTAGTGGTACAGTGAGAATGATGGCCTCCTCTCTTTCCCTGGAGTCTGAGGTATTGGCAACAGCAGTCACCCACTGCTGAGAGGACTTAGGACCCAGCAGAAGTCAAGGGTCATTAGTGCCCTGCAGCTGCAGGGATAGCCTCACTTCAGGTGGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCANNNNNNNNNNNNNNNNNNNN | pathogenic | 188,867 |
Considering the variant on chromosome 11, location 119025969, involving gene SLC37A4 (solute carrier family 37 member 4), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | TTTCAAGCACTTACAGCCAGGCATTCCTGCTTTATCTCACTTGATCTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTATTGACAATATTTCCCAAGGAAGCTGTCTCACTTTGAAAAAATGAATCACTGACAGTGTTCAGTATCAAATCTAGTTTTAATCTTCTATAACAAGTCACCTTTTCTTCCCACCTATATCCAACTGCGCCTAGTGGTACAGTGAGAATGATGGCCTCCTCTCTTTCCCTGGAGTCTGAGGTATTGGCAACAGCAGTCACCCACTGCTGAGAGGACTTAGGACCCAGCAGAAGTCAAGGGTCATTAGTGCCCTGCAGCTGCAGGGATAGCCTCACTTCAGGTGGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCAC | TTTCAAGCACTTACAGCCAGGCATTCCTGCTTTATCTCACTTGATCTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTATTGACAATATTTCCCAAGGAAGCTGTCTCACTTTGAAAAAATGAATCACTGACAGTGTTCAGTATCAAATCTAGTTTTAATCTTCTATAACAAGTCACCTTTTCTTCCCACCTATATCCAACTGCGCCTAGTGGTACAGTGAGAATGATGGCCTCCTCTCTTTCCCTGGAGTCTGAGGTATTGGCAACAGCAGTCACCCACTGCTGAGAGGACTTAGGACCCAGCAGAAGTCAAGGGTCATTAGTGCCCTGCAGCTGCAGGGATAGCCTCACTTCAGGTGGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACN | pathogenic | 188,878 |
A genetic alteration at chromosome 11, position 119025974, in gene SLC37A4 (solute carrier family 37 member 4)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | AGCACTTACAGCCAGGCATTCCTGCTTTATCTCACTTGATCTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTATTGACAATATTTCCCAAGGAAGCTGTCTCACTTTGAAAAAATGAATCACTGACAGTGTTCAGTATCAAATCTAGTTTTAATCTTCTATAACAAGTCACCTTTTCTTCCCACCTATATCCAACTGCGCCTAGTGGTACAGTGAGAATGATGGCCTCCTCTCTTTCCCTGGAGTCTGAGGTATTGGCAACAGCAGTCACCCACTGCTGAGAGGACTTAGGACCCAGCAGAAGTCAAGGGTCATTAGTGCCCTGCAGCTGCAGGGATAGCCTCACTTCAGGTGGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGAT | AGCACTTACAGCCAGGCATTCCTGCTTTATCTCACTTGATCTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTATTGACAATATTTCCCAAGGAAGCTGTCTCACTTTGAAAAAATGAATCACTGACAGTGTTCAGTATCAAATCTAGTTTTAATCTTCTATAACAAGTCACCTTTTCTTCCCACCTATATCCAACTGCGCCTAGTGGTACAGTGAGAATGATGGCCTCCTCTCTTTCCCTGGAGTCTGAGGTATTGGCAACAGCAGTCACCCACTGCTGAGAGGACTTAGGACCCAGCAGAAGTCAAGGGTCATTAGTGCCCTGCAGCTGCAGGGATAGCCTCACTTCAGGTGGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGA | pathogenic | 188,879 |
Evaluate if the mutation on chromosome 11 at position 119026014 in SLC37A4 (solute carrier family 37 member 4) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | CTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTATTGACAATATTTCCCAAGGAAGCTGTCTCACTTTGAAAAAATGAATCACTGACAGTGTTCAGTATCAAATCTAGTTTTAATCTTCTATAACAAGTCACCTTTTCTTCCCACCTATATCCAACTGCGCCTAGTGGTACAGTGAGAATGATGGCCTCCTCTCTTTCCCTGGAGTCTGAGGTATTGGCAACAGCAGTCACCCACTGCTGAGAGGACTTAGGACCCAGCAGAAGTCAAGGGTCATTAGTGCCCTGCAGCTGCAGGGATAGCCTCACTTCAGGTGGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAAT | CTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTATTGACAATATTTCCCAAGGAAGCTGTCTCACTTTGAAAAAATGAATCACTGACAGTGTTCAGTATCAAATCTAGTTTTAATCTTCTATAACAAGTCACCTTTTCTTCCCACCTATATCCAACTGCGCCTAGTGGTACAGTGAGAATGATGGCCTCCTCTCTTTCCCTGGAGTCTGAGGTATTGGCAACAGCAGTCACCCACTGCTGAGAGGACTTAGGACCCAGCAGAAGTCAAGGGTCATTAGTGCCCTGCAGCTGCAGGGATAGCCTCACTTCAGGTGGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAA | pathogenic | 188,882 |
A mutation at chromosome position 119026014 on chromosome 11 in gene SLC37A4 (solute carrier family 37 member 4): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | CTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTATTGACAATATTTCCCAAGGAAGCTGTCTCACTTTGAAAAAATGAATCACTGACAGTGTTCAGTATCAAATCTAGTTTTAATCTTCTATAACAAGTCACCTTTTCTTCCCACCTATATCCAACTGCGCCTAGTGGTACAGTGAGAATGATGGCCTCCTCTCTTTCCCTGGAGTCTGAGGTATTGGCAACAGCAGTCACCCACTGCTGAGAGGACTTAGGACCCAGCAGAAGTCAAGGGTCATTAGTGCCCTGCAGCTGCAGGGATAGCCTCACTTCAGGTGGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAAT | CTTCACCCTAACTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTATTGACAATATTTCCCAAGGAAGCTGTCTCACTTTGAAAAAATGAATCACTGACAGTGTTCAGTATCAAATCTAGTTTTAATCTTCTATAACAAGTCACCTTTTCTTCCCACCTATATCCAACTGCGCCTAGTGGTACAGTGAGAATGATGGCCTCCTCTCTTTCCCTGGAGTCTGAGGTATTGGCAACAGCAGTCACCCACTGCTGAGAGGACTTAGGACCCAGCAGAAGTCAAGGGTCATTAGTGCCCTGCAGCTGCAGGGATAGCCTCACTTCAGGTGGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATNN | pathogenic | 188,883 |
The mutation in gene SLC37A4 (solute carrier family 37 member 4) at chromosome 11, position 119026025—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glucose-6-phosphate_transport_defect'] | CTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTATTGACAATATTTCCCAAGGAAGCTGTCTCACTTTGAAAAAATGAATCACTGACAGTGTTCAGTATCAAATCTAGTTTTAATCTTCTATAACAAGTCACCTTTTCTTCCCACCTATATCCAACTGCGCCTAGTGGTACAGTGAGAATGATGGCCTCCTCTCTTTCCCTGGAGTCTGAGGTATTGGCAACAGCAGTCACCCACTGCTGAGAGGACTTAGGACCCAGCAGAAGTCAAGGGTCATTAGTGCCCTGCAGCTGCAGGGATAGCCTCACTTCAGGTGGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCC | CTCCAGGGGGTACATTCTGTTACAGATAAGAGATTTAGCAGACTTTCTGCCTCAAAGTTTCCAAGCTAGTTACTGACAGTCTGGGTTTGAACCAGGCTTTCTGGCTACACACTCAGTAAACCACTGTTACACTTCTTCCCTCCATCAAGTTATTTAATCTGTCCACAACCCAATAGCTTTATCTCTAAAATAATCATTGAACTATTCAATGTTCAGGTGAAGGCAGAGGAGGCATGAGTTTTAAAGGAGTCCATCTACACTTCAGCTTCCCCATTCCAGGGAAATGAAGTCTTTCCATTTTGGGGTGGAAAGAGCAGGTATTGACAATATTTCCCAAGGAAGCTGTCTCACTTTGAAAAAATGAATCACTGACAGTGTTCAGTATCAAATCTAGTTTTAATCTTCTATAACAAGTCACCTTTTCTTCCCACCTATATCCAACTGCGCCTAGTGGTACAGTGAGAATGATGGCCTCCTCTCTTTCCCTGGAGTCTGAGGTATTGGCAACAGCAGTCACCCACTGCTGAGAGGACTTAGGACCCAGCAGAAGTCAAGGGTCATTAGTGCCCTGCAGCTGCAGGGATAGCCTCACTTCAGGTGGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCN | pathogenic | 188,884 |
The mutation impacting SLC37A4 (solute carrier family 37 member 4) on chromosome 11 at position 119026624: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glucose-6-phosphate_transport_defect'] | GGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGG | GGGGATGGGGTAGGATGCGGGCAGGACAGGGCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGNNNN | pathogenic | 188,901 |
Chromosome 11, position 119026654, gene SLC37A4 (solute carrier family 37 member 4): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glucose-6-phosphate_transport_defect'] | GCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCC | GCCTAGGAAAAGAAGAAGGGTACAGGAGCCTTCCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCN | pathogenic | 188,902 |
Gene SLC37A4 (solute carrier family 37 member 4) variant at chromosome 11, position 119026686—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | CCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCA | CCTGACTGCAGAAGTTTCCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCANNNNN | pathogenic | 188,904 |
Evaluate if the mutation on chromosome 11 at position 119026703 in SLC37A4 (solute carrier family 37 member 4) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCA | CCTGTTTGTCTGAAGGCAGGAAATAGGAGCTAACGGAGTCTAAGGCCAAAGGTTATCTTTTAAATAGAGCATAGGATCAGGGAGCTGGGACCTCACTAGCCACTGATAACTTCCAGCGCCACCCGGGTGACAGAAAAGGCGCAGAAATGGAAAGTGAAAGGTTCAGGGCTAGCCAGGCAGGCCCCTCCTTTTCTCCCCGCAGAGCGTGCAGGGGGAAGGCCACCGTGGGATGGTGCTCCGGAACCTGGACTCTCTTCACTCAGCCTTCTTGGACACTCGGCCCATCTTGGTGCGGATGTTTCGTAGGAGGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCANNN | benign | 188,905 |
Variant at chromosome position 119027011, chromosome 11, gene SLC37A4 (solute carrier family 37 member 4): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | GGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCC | GGAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCAC | pathogenic | 188,915 |
Considering the variant on chromosome 11, location 119027012, involving gene SLC37A4 (solute carrier family 37 member 4), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | GAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCA | GAAGAAGGCAGCCGTGCTGGCCGCACAAATCACTTCAGCCACCCAGAAGGCTGTGCTCCAACTGTAGTGCTTGGCAATGGTGCTGAAGGGCAGCCCAGCCAGAAAGCCGCCCACTGTCAGGGGGAAAGGGAAGAACCTAAGCCAGTGGTGCTAGCTCCAGCTTCTCACTGGTCTATATGCAAAGCACAGGTGGGGGTGAGGGAGAGACTCTAGAAGTTAACACTTACCATTGGCCATGAGTCCCACAATGGCGTGGGAGGTGCCACACAAGTTGGGAGGGGCACTCTCGTTGGCTATGACTCCAAACAGGGCAATGGGGCCATACGAGGAGAAACCAAATACAGCTCCCAATACCAGGATCCAGAGCTGCCAAGGGCAGAGTGGAGTGGCATTCAGAGTCGGAAAGCCGACCTGCCTACCCACCCCTGCCAAAGCAAGAAGAAGGCTTGGTCCCCAGAAACAAACAGTAGTCATAAAAGGACAGTAAGTAAGTGATTCTTTTCCTTCCACTCCCCAACACAACTGACAATACAGAGCTAGAGTAGGAGATGCCACATTGAGCAAACCCAGGGACCTAGGTGGGCAAGGAAAGGAGGTACAGAAGTCATCCCTCTGAGCTAGAGGCTGTCCTCAGGATTTACACAAACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCANNN | pathogenic | 188,916 |
The genetic variant at chromosome 11, position 119027657, affecting gene SLC37A4 (solute carrier family 37 member 4): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | ACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCT 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ACTGGATTGGCTAGGGGTAAGGCAGAAGGGTAGGACAAAGGTGAGACAGACCAGGAGAAAAACCAGAGATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTN | pathogenic | 188,931 |
Located at chromosome 11 position 119027725, the variant affecting gene SLC37A4 (solute carrier family 37 member 4)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | ATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTGCTTGCCTGTGAAACCAGCTTTGATTAAAGGTTCAACCTAATTACTTTTGTCTGCCTGAGCCCAGGGG | ATATCTTTAAGGCACCTCATGCTCTGTAAAGCCTGTGAGCTCCGCGAGAGGGTGAAGAGCCAGAGTCCAGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTGCTTGCCTGTGAAACCAGCTTTGATTAAAGGTTCAACCTAATTACTTTTGTCTGCCTGAGCCCAGGGGN | benign | 188,940 |
The genetic variant at chromosome 11, position 119027793, affecting gene SLC37A4 (solute carrier family 37 member 4): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | AGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTGCTTGCCTGTGAAACCAGCTTTGATTAAAGGTTCAACCTAATTACTTTTGTCTGCCTGAGCCCAGGGGAGGCAGGGGTGGGATGAGCAGAGATGCCCTCTCTAGCCCTGCTCCCTCAGTCACAGAACCTTCTCATT | AGAAAGCAACATCCTAGAGGAGCACAGGGAAGAAAAGAAAACCAGGCCCAGAGTGGAGGAGGAGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGAAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTGCTTGCCTGTGAAACCAGCTTTGATTAAAGGTTCAACCTAATTACTTTTGTCTGCCTGAGCCCAGGGGAGGCAGGGGTGGGATGAGCAGAGATGCCCTCTCTAGCCCTGCTCCCTCAGTCACAGAACCTTCTCATTN | pathogenic | 188,945 |
Regarding the variant found on chromosome 11 at position 119027855 in gene SLC37A4 (solute carrier family 37 member 4): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Glucose-6-phosphate_transport_defect'] | AGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTGCTTGCCTGTGAAACCAGCTTTGATTAAAGGTTCAACCTAATTACTTTTGTCTGCCTGAGCCCAGGGGAGGCAGGGGTGGGATGAGCAGAGATGCCCTCTCTAGCCCTGCTCCCTCAGTCACAGAACCTTCTCATTCATTCACGGAAGGTTTATTAACTTACTAGTTGACAGGCACTGCACTTGGCACTATTAGTTTC | AGAACCCAGACACAGAGGAACGGTCCAATCAGAACTGAAAAGGGTATCTGAGAGGCGAAGAAAAGATTGGCCCAGGCTGAAGCCAGGAGAGGGAGACAGAGTCAGTGGCCCTTGCGTTCTCTCCTTGTGCCCTGCCGTGAGCCAGGCCTTTCTTAATTACCTTGGGGGAGTCACTGGTCACTGTTACCCGGAAGAGGTACATGGACACTGTCATGCCAGCCATCATGAACAGCAACAGGCCATGGCGAGGGTTCCCGTAGTTGGACAGTCCCGCCTATGGATACAGTCCCGGCAATGTCACGTCCTCAGAACAGGGCAGAGAACACCCACCCCTGGACTCTGACACAGCAGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTGCTTGCCTGTGAAACCAGCTTTGATTAAAGGTTCAACCTAATTACTTTTGTCTGCCTGAGCCCAGGGGAGGCAGGGGTGGGATGAGCAGAGATGCCCTCTCTAGCCCTGCTCCCTCAGTCACAGAACCTTCTCATTCATTCACGGAAGGTTTATTAACTTACTAGTTGACAGGCACTGCACTTGGCACTATTAGTTT | pathogenic | 188,949 |
Considering the variant on chromosome 11, location 119028204, involving gene SLC37A4 (solute carrier family 37 member 4), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | AGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTGCTTGCCTGTGAAACCAGCTTTGATTAAAGGTTCAACCTAATTACTTTTGTCTGCCTGAGCCCAGGGGAGGCAGGGGTGGGATGAGCAGAGATGCCCTCTCTAGCCCTGCTCCCTCAGTCACAGAACCTTCTCATTCATTCACGGAAGGTTTATTAACTTACTAGTTGACAGGCACTGCACTTGGCACTATTAGTTTCTACACCCACTCACCACCACCGCACCAAAACACAAAGTCAGACACATACCCCGGCTACCCCACTTCTAAGCCTTCTAGAGAGGGCCTCAATCCGTGGAACTCTCAATACTTAGCACATAATAGATTTAATTGTTTCCTACAGTTGCCCCTTGTAATTCTGTGCAAGGGGGACCTCCCCAGTTCAGGTCCCACGGTGTCACACAGAAAGCCCCGCTAAGGGCTGAGGTCCTGATGGGGCCCCACAGAGCTACCTCTGGGTCCCCATTACCCTGCGACGTCAGTCTGGGCTTCCTTCGGGCTAGCTGGGGGCTGCAGGGTCTGGTTTCCAACCTGTGGGACGTTGGCAGGGG | AGGGCCTCTGCTGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTGCTTGCCTGTGAAACCAGCTTTGATTAAAGGTTCAACCTAATTACTTTTGTCTGCCTGAGCCCAGGGGAGGCAGGGGTGGGATGAGCAGAGATGCCCTCTCTAGCCCTGCTCCCTCAGTCACAGAACCTTCTCATTCATTCACGGAAGGTTTATTAACTTACTAGTTGACAGGCACTGCACTTGGCACTATTAGTTTCTACACCCACTCACCACCACCGCACCAAAACACAAAGTCAGACACATACCCCGGCTACCCCACTTCTAAGCCTTCTAGAGAGGGCCTCAATCCGTGGAACTCTCAATACTTAGCACATAATAGATTTAATTGTTTCCTACAGTTGCCCCTTGTAATTCTGTGCAAGGGGGACCTCCCCAGTTCAGGTCCCACGGTGTCACACAGAAAGCCCCGCTAAGGGCTGAGGTCCTGATGGGGCCCCACAGAGCTACCTCTGGGTCCCCATTACCCTGCGACGTCAGTCTGGGCTTCCTTCGGGCTAGCTGGGGGCTGCAGGGTCTGGTTTCCAACCTGTGGGACGTTGGCAGGGGN | pathogenic | 188,958 |
Variant on chromosome 11, at position 119028215, affecting SLC37A4 (solute carrier family 37 member 4): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Congenital_disorder_of_glycosylation,_type_IIw', 'Glucose-6-phosphate_transport_defect', 'Phosphate_transport_defect'] | TGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTGCTTGCCTGTGAAACCAGCTTTGATTAAAGGTTCAACCTAATTACTTTTGTCTGCCTGAGCCCAGGGGAGGCAGGGGTGGGATGAGCAGAGATGCCCTCTCTAGCCCTGCTCCCTCAGTCACAGAACCTTCTCATTCATTCACGGAAGGTTTATTAACTTACTAGTTGACAGGCACTGCACTTGGCACTATTAGTTTCTACACCCACTCACCACCACCGCACCAAAACACAAAGTCAGACACATACCCCGGCTACCCCACTTCTAAGCCTTCTAGAGAGGGCCTCAATCCGTGGAACTCTCAATACTTAGCACATAATAGATTTAATTGTTTCCTACAGTTGCCCCTTGTAATTCTGTGCAAGGGGGACCTCCCCAGTTCAGGTCCCACGGTGTCACACAGAAAGCCCCGCTAAGGGCTGAGGTCCTGATGGGGCCCCACAGAGCTACCTCTGGGTCCCCATTACCCTGCGACGTCAGTCTGGGCTTCCTTCGGGCTAGCTGGGGGCTGCAGGGTCTGGTTTCCAACCTGTGGGACGTTGGCAGGGGCCGCAAGCAGA | TGACGGGTCTTTGGCAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTGCTTGCCTGTGAAACCAGCTTTGATTAAAGGTTCAACCTAATTACTTTTGTCTGCCTGAGCCCAGGGGAGGCAGGGGTGGGATGAGCAGAGATGCCCTCTCTAGCCCTGCTCCCTCAGTCACAGAACCTTCTCATTCATTCACGGAAGGTTTATTAACTTACTAGTTGACAGGCACTGCACTTGGCACTATTAGTTTCTACACCCACTCACCACCACCGCACCAAAACACAAAGTCAGACACATACCCCGGCTACCCCACTTCTAAGCCTTCTAGAGAGGGCCTCAATCCGTGGAACTCTCAATACTTAGCACATAATAGATTTAATTGTTTCCTACAGTTGCCCCTTGTAATTCTGTGCAAGGGGGACCTCCCCAGTTCAGGTCCCACGGTGTCACACAGAAAGCCCCGCTAAGGGCTGAGGTCCTGATGGGGCCCCACAGAGCTACCTCTGGGTCCCCATTACCCTGCGACGTCAGTCTGGGCTTCCTTCGGGCTAGCTGGGGGCTGCAGGGTCTGGTTTCCAACCTGTGGGACGTTGGCAGGGGCCGCAAGCAG | pathogenic | 188,960 |
Gene SLC37A4 (solute carrier family 37 member 4) variant at chromosome 11, position 119028229—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | CAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTGCTTGCCTGTGAAACCAGCTTTGATTAAAGGTTCAACCTAATTACTTTTGTCTGCCTGAGCCCAGGGGAGGCAGGGGTGGGATGAGCAGAGATGCCCTCTCTAGCCCTGCTCCCTCAGTCACAGAACCTTCTCATTCATTCACGGAAGGTTTATTAACTTACTAGTTGACAGGCACTGCACTTGGCACTATTAGTTTCTACACCCACTCACCACCACCGCACCAAAACACAAAGTCAGACACATACCCCGGCTACCCCACTTCTAAGCCTTCTAGAGAGGGCCTCAATCCGTGGAACTCTCAATACTTAGCACATAATAGATTTAATTGTTTCCTACAGTTGCCCCTTGTAATTCTGTGCAAGGGGGACCTCCCCAGTTCAGGTCCCACGGTGTCACACAGAAAGCCCCGCTAAGGGCTGAGGTCCTGATGGGGCCCCACAGAGCTACCTCTGGGTCCCCATTACCCTGCGACGTCAGTCTGGGCTTCCTTCGGGCTAGCTGGGGGCTGCAGGGTCTGGTTTCCAACCTGTGGGACGTTGGCAGGGGCCGCAAGCAGAGGGACTGGGCAGCT | CAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTGCTTGCCTGTGAAACCAGCTTTGATTAAAGGTTCAACCTAATTACTTTTGTCTGCCTGAGCCCAGGGGAGGCAGGGGTGGGATGAGCAGAGATGCCCTCTCTAGCCCTGCTCCCTCAGTCACAGAACCTTCTCATTCATTCACGGAAGGTTTATTAACTTACTAGTTGACAGGCACTGCACTTGGCACTATTAGTTTCTACACCCACTCACCACCACCGCACCAAAACACAAAGTCAGACACATACCCCGGCTACCCCACTTCTAAGCCTTCTAGAGAGGGCCTCAATCCGTGGAACTCTCAATACTTAGCACATAATAGATTTAATTGTTTCCTACAGTTGCCCCTTGTAATTCTGTGCAAGGGGGACCTCCCCAGTTCAGGTCCCACGGTGTCACACAGAAAGCCCCGCTAAGGGCTGAGGTCCTGATGGGGCCCCACAGAGCTACCTCTGGGTCCCCATTACCCTGCGACGTCAGTCTGGGCTTCCTTCGGGCTAGCTGGGGGCTGCAGGGTCTGGTTTCCAACCTGTGGGACGTTGGCAGGGGCCGCAAGCAGAGGGACTGGGCAGC | pathogenic | 188,964 |
Evaluate the clinical significance of the mutation at chromosome 11, position 119028229 in gene SLC37A4 (solute carrier family 37 member 4): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | CAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTGCTTGCCTGTGAAACCAGCTTTGATTAAAGGTTCAACCTAATTACTTTTGTCTGCCTGAGCCCAGGGGAGGCAGGGGTGGGATGAGCAGAGATGCCCTCTCTAGCCCTGCTCCCTCAGTCACAGAACCTTCTCATTCATTCACGGAAGGTTTATTAACTTACTAGTTGACAGGCACTGCACTTGGCACTATTAGTTTCTACACCCACTCACCACCACCGCACCAAAACACAAAGTCAGACACATACCCCGGCTACCCCACTTCTAAGCCTTCTAGAGAGGGCCTCAATCCGTGGAACTCTCAATACTTAGCACATAATAGATTTAATTGTTTCCTACAGTTGCCCCTTGTAATTCTGTGCAAGGGGGACCTCCCCAGTTCAGGTCCCACGGTGTCACACAGAAAGCCCCGCTAAGGGCTGAGGTCCTGATGGGGCCCCACAGAGCTACCTCTGGGTCCCCATTACCCTGCGACGTCAGTCTGGGCTTCCTTCGGGCTAGCTGGGGGCTGCAGGGTCTGGTTTCCAACCTGTGGGACGTTGGCAGGGGCCGCAAGCAGAGGGACTGGGCAGCT | CAATCCCACCACAGTTCTTGGCCCTGGGCAGCTCTGGGAGGCCCTGGGACCTGCTCATTACATTCTGAGGCCAAACTCTACAACATCCCCTCCTCCCCCGTCAGGCAGGACTAGGACACGTGCTGGGGAGGGCACCTAGTCTGTTCCCAGCCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTGCTTGCCTGTGAAACCAGCTTTGATTAAAGGTTCAACCTAATTACTTTTGTCTGCCTGAGCCCAGGGGAGGCAGGGGTGGGATGAGCAGAGATGCCCTCTCTAGCCCTGCTCCCTCAGTCACAGAACCTTCTCATTCATTCACGGAAGGTTTATTAACTTACTAGTTGACAGGCACTGCACTTGGCACTATTAGTTTCTACACCCACTCACCACCACCGCACCAAAACACAAAGTCAGACACATACCCCGGCTACCCCACTTCTAAGCCTTCTAGAGAGGGCCTCAATCCGTGGAACTCTCAATACTTAGCACATAATAGATTTAATTGTTTCCTACAGTTGCCCCTTGTAATTCTGTGCAAGGGGGACCTCCCCAGTTCAGGTCCCACGGTGTCACACAGAAAGCCCCGCTAAGGGCTGAGGTCCTGATGGGGCCCCACAGAGCTACCTCTGGGTCCCCATTACCCTGCGACGTCAGTCTGGGCTTCCTTCGGGCTAGCTGGGGGCTGCAGGGTCTGGTTTCCAACCTGTGGGACGTTGGCAGGGGCCGCAAGCAGAGGGACTGGGCAG | pathogenic | 188,965 |
A genetic variant on chromosome 11, position 119028379, affects the gene SLC37A4 (solute carrier family 37 member 4). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | CCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTGCTTGCCTGTGAAACCAGCTTTGATTAAAGGTTCAACCTAATTACTTTTGTCTGCCTGAGCCCAGGGGAGGCAGGGGTGGGATGAGCAGAGATGCCCTCTCTAGCCCTGCTCCCTCAGTCACAGAACCTTCTCATTCATTCACGGAAGGTTTATTAACTTACTAGTTGACAGGCACTGCACTTGGCACTATTAGTTTCTACACCCACTCACCACCACCGCACCAAAACACAAAGTCAGACACATACCCCGGCTACCCCACTTCTAAGCCTTCTAGAGAGGGCCTCAATCCGTGGAACTCTCAATACTTAGCACATAATAGATTTAATTGTTTCCTACAGTTGCCCCTTGTAATTCTGTGCAAGGGGGACCTCCCCAGTTCAGGTCCCACGGTGTCACACAGAAAGCCCCGCTAAGGGCTGAGGTCCTGATGGGGCCCCACAGAGCTACCTCTGGGTCCCCATTACCCTGCGACGTCAGTCTGGGCTTCCTTCGGGCTAGCTGGGGGCTGCAGGGTCTGGTTTCCAACCTGTGGGACGTTGGCAGGGGCCGCAAGCAGAGGGACTGGGCAGCTCGTGGGCGGGAAGGTGCCCCGGCGGGCTTCGGGCTGCAGGGCACAACCGTCCCGCCCAGGGCCCCGGCAACATGCCCCGGCTTTTCCGCTCAATTGGGAAAGCAACTGGAGCAGAAGGCGTAGGCGCACGCGGAGCGGGCGACCGCACGT 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CCCATTTTCCTGGGGCTGTGGAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTGCTTGCCTGTGAAACCAGCTTTGATTAAAGGTTCAACCTAATTACTTTTGTCTGCCTGAGCCCAGGGGAGGCAGGGGTGGGATGAGCAGAGATGCCCTCTCTAGCCCTGCTCCCTCAGTCACAGAACCTTCTCATTCATTCACGGAAGGTTTATTAACTTACTAGTTGACAGGCACTGCACTTGGCACTATTAGTTTCTACACCCACTCACCACCACCGCACCAAAACACAAAGTCAGACACATACCCCGGCTACCCCACTTCTAAGCCTTCTAGAGAGGGCCTCAATCCGTGGAACTCTCAATACTTAGCACATAATAGATTTAATTGTTTCCTACAGTTGCCCCTTGTAATTCTGTGCAAGGGGGACCTCCCCAGTTCAGGTCCCACGGTGTCACACAGAAAGCCCCGCTAAGGGCTGAGGTCCTGATGGGGCCCCACAGAGCTACCTCTGGGTCCCCATTACCCTGCGACGTCAGTCTGGGCTTCCTTCGGGCTAGCTGGGGGCTGCAGGGTCTGGTTTCCAACCTGTGGGACGTTGGCAGGGGCCGCAAGCAGAGGGACTGGGCAGCTCGTGGGCGGGAAGGTGCCCCGGCGGGCTTCGGGCTGCAGGGCACAACCGTCCCGCCCAGGGCCCCGGCAACATGCCCCGGCTTTTCCGCTCAATTGGGAAAGCAACTGGAGCAGAAGGCGTAGGCGCACGCGGAGCGGGCGACCGCACG | pathogenic | 188,971 |
Clinically, how would you classify the variant at chromosome 11, position 119028399, gene SLC37A4 (solute carrier family 37 member 4): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Glucose-6-phosphate_transport_defect'] | GAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTGCTTGCCTGTGAAACCAGCTTTGATTAAAGGTTCAACCTAATTACTTTTGTCTGCCTGAGCCCAGGGGAGGCAGGGGTGGGATGAGCAGAGATGCCCTCTCTAGCCCTGCTCCCTCAGTCACAGAACCTTCTCATTCATTCACGGAAGGTTTATTAACTTACTAGTTGACAGGCACTGCACTTGGCACTATTAGTTTCTACACCCACTCACCACCACCGCACCAAAACACAAAGTCAGACACATACCCCGGCTACCCCACTTCTAAGCCTTCTAGAGAGGGCCTCAATCCGTGGAACTCTCAATACTTAGCACATAATAGATTTAATTGTTTCCTACAGTTGCCCCTTGTAATTCTGTGCAAGGGGGACCTCCCCAGTTCAGGTCCCACGGTGTCACACAGAAAGCCCCGCTAAGGGCTGAGGTCCTGATGGGGCCCCACAGAGCTACCTCTGGGTCCCCATTACCCTGCGACGTCAGTCTGGGCTTCCTTCGGGCTAGCTGGGGGCTGCAGGGTCTGGTTTCCAACCTGTGGGACGTTGGCAGGGGCCGCAAGCAGAGGGACTGGGCAGCTCGTGGGCGGGAAGGTGCCCCGGCGGGCTTCGGGCTGCAGGGCACAACCGTCCCGCCCAGGGCCCCGGCAACATGCCCCGGCTTTTCCGCTCAATTGGGAAAGCAACTGGAGCAGAAGGCGTAGGCGCACGCGGAGCGGGCGACCGCACGTATTCTCCCGGAGGCCCCGCG | GAGCAACCTACAGCTAAGCTAAGAAATATTCTGGCTGTCCTTCACATCAGTTAAAACTCTACCCAAGAGCCTTACTTCCACAACCGTAGGAAAGCTAAGACCAGCCTGGAATCATTCCCTCTTCACCCGGTCTAAACCAGCAGATGCCAACCTGCCTGTGCCCTGGGACTCCCATCTCTCCAGTGCCTGTCCCAGCCACGCCGTGAAGACTGAAAGGGACCCTTCTCCTTCCTGTCCCTTCTGCCCGCTCACCTTTGCCATGGCCCGGTCTGACAGGTAGCCAGCTGCGATGCTGCCTACAAGGCCCCCAACTTCCAGGGCACTCATGTAGGAGCTACCTGCAGTAGGGAGTTGTGGTGGGAAGAGGGAAGGGAAGGGTGGGAGGGTGTTACACATTGGGGTTGTCCCACAATGGCTTAAACCTGGAGAGGTACAGGGTTCCCATAGGTGACTGGCCATAGCTGCCTGAGTAGCGCCCGGCCTCAAGGAACGAATAAAGAGGATAAATGGAAGCAAGGCCTGAATTTGCATCCCCTGCATTGGTTCCTGCTCCTTATGCCCACCCTTGTCCCCATGCTCATCTTACCTACAAGGGCTGACTGTCCTTTCTCCTGGATAAGGAAGAACTGGCCCCAGTCAGTACAGCAGGTCTTTACTCCAAACACCACAAGGTAACCAGTGGAGAGCACCCACAGGTAAGGGGACAGCAGCAGCTCCTGCAGGGTGCTCTCCTCCTTCAAGGAGCCTGGAGGTGGGAAAAGGCTGGGCGTCAGGCTCTGCCCTGACTGCTCTCCCCAACCTGAACCCCCAACATTCATTAACCAGCCACAGGGGCAGAGTCCATCTGCACAGCCAGGATCAGCATGAAGGGTATTCCCTCACCCCACTGCTCTCCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTGCTTGCCTGTGAAACCAGCTTTGATTAAAGGTTCAACCTAATTACTTTTGTCTGCCTGAGCCCAGGGGAGGCAGGGGTGGGATGAGCAGAGATGCCCTCTCTAGCCCTGCTCCCTCAGTCACAGAACCTTCTCATTCATTCACGGAAGGTTTATTAACTTACTAGTTGACAGGCACTGCACTTGGCACTATTAGTTTCTACACCCACTCACCACCACCGCACCAAAACACAAAGTCAGACACATACCCCGGCTACCCCACTTCTAAGCCTTCTAGAGAGGGCCTCAATCCGTGGAACTCTCAATACTTAGCACATAATAGATTTAATTGTTTCCTACAGTTGCCCCTTGTAATTCTGTGCAAGGGGGACCTCCCCAGTTCAGGTCCCACGGTGTCACACAGAAAGCCCCGCTAAGGGCTGAGGTCCTGATGGGGCCCCACAGAGCTACCTCTGGGTCCCCATTACCCTGCGACGTCAGTCTGGGCTTCCTTCGGGCTAGCTGGGGGCTGCAGGGTCTGGTTTCCAACCTGTGGGACGTTGGCAGGGGCCGCAAGCAGAGGGACTGGGCAGCTCGTGGGCGGGAAGGTGCCCCGGCGGGCTTCGGGCTGCAGGGCACAACCGTCCCGCCCAGGGCCCCGGCAACATGCCCCGGCTTTTCCGCTCAATTGGGAAAGCAACTGGAGCAGAAGGCGTAGGCGCACGCGGAGCGGGCGACCGCACGTATTCTCCCGGAGGCCCCGCGNNNNNNN | pathogenic | 188,973 |
The mutation impacting SLC37A4 (solute carrier family 37 member 4) on chromosome 11 at position 119029292: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Congenital_disorder_of_glycosylation,_type_IIw', 'Glucose-6-phosphate_transport_defect', 'Phosphate_transport_defect'] | CCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTGCTTGCCTGTGAAACCAGCTTTGATTAAAGGTTCAACCTAATTACTTTTGTCTGCCTGAGCCCAGGGGAGGCAGGGGTGGGATGAGCAGAGATGCCCTCTCTAGCCCTGCTCCCTCAGTCACAGAACCTTCTCATTCATTCACGGAAGGTTTATTAACTTACTAGTTGACAGGCACTGCACTTGGCACTATTAGTTTCTACACCCACTCACCACCACCGCACCAAAACACAAAGTCAGACACATACCCCGGCTACCCCACTTCTAAGCCTTCTAGAGAGGGCCTCAATCCGTGGAACTCTCAATACTTAGCACATAATAGATTTAATTGTTTCCTACAGTTGCCCCTTGTAATTCTGTGCAAGGGGGACCTCCCCAGTTCAGGTCCCACGGTGTCACACAGAAAGCCCCGCTAAGGGCTGAGGTCCTGATGGGGCCCCACAGAGCTACCTCTGGGTCCCCATTACCCTGCGACGTCAGTCTGGGCTTCCTTCGGGCTAGCTGGGGGCTGCAGGGTCTGGTTTCCAACCTGTGGGACGTTGGCAGGGGCCGCAAGCAGAGGGACTGGGCAGCTCGTGGGCGGGAAGGTGCCCCGGCGGGCTTCGGGCTGCAGGGCACAACCGTCCCGCCCAGGGCCCCGGCAACATGCCCCGGCTTTTCCGCTCAATTGGGAAAGCAACTGGAGCAGAAGGCGTAGGCGCACGCGGAGCGGGCGACCGCACGTATTCTCCCGGAGGCCCCGCGCTTCTGGCACCCAGAGGCTCAGCCTGGTAGGGGAGGGCCAGGCGGCGGGCGGGAGAGGAGGAGAGGCGGCGGGCGGCGAAGAGGCGGCGGGCTCGTGGCACCTGCCCAGCCCCGTGGGTCCTCACGCTACCCAGGACACGCTACTGTGCGGCTGGGAACCACGGGGGCCGGGGGTGCAGGAGCTGGAGAGGTGCGGAGACCACAGGACTGGCGCGATAGAAAGGGGTCTCGTGCTGGTGGTCAGGGACAGCGCCTCGGTGGCCCCAAGACCCATGAATTGTCTCTGGAACTGCAGGAACAGCTCCGGGTCGTATCGGAAGTTGGGGTTCGCCAACAATGGCTCCCCAAGACCTGAGATCCCCGCCCTCAGGTGACTCCCCTCCCCCGCATACCGCCTCCTACCTGAACAGAGGCGGGAGCCCGAATAGGACGGGGCGGGGCTAGCGAAGGCTGCGCAAGCGCGGCCGGCGGGGGCGTGGTCTTCGCCTGCTGCTTCGCTTGCCGGCCAGTGGAGTTCCCCGCCCCACATGCCGGGGACGTCGACTTACTCCCTCCCGCTGGTCACGCTGCTCCTTGGACGAACGAGCATAGCGCCCCTTAGGGGCTGGGCACGGCATGTCCAATTCTTAAGTGGTTGCATTCAACAAACCAGTTTTTAGTGAGTGCCCTCCTCTACAAAACACACCGAACACTAAGGTGATAATCATTGTTCCCAAGTTGCTCACAGTCTGGGAAAGGTGTTGTAGGAACACACAGTATTTTCTTTTTTTCTTTTTTTTTTTTTTTGAAACAGTCTCGCTCAGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTTCGGCTCACTGCAAGCTCCTCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGA | CCTCTCCCCCTCTCCGCTGCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTGCTTGCCTGTGAAACCAGCTTTGATTAAAGGTTCAACCTAATTACTTTTGTCTGCCTGAGCCCAGGGGAGGCAGGGGTGGGATGAGCAGAGATGCCCTCTCTAGCCCTGCTCCCTCAGTCACAGAACCTTCTCATTCATTCACGGAAGGTTTATTAACTTACTAGTTGACAGGCACTGCACTTGGCACTATTAGTTTCTACACCCACTCACCACCACCGCACCAAAACACAAAGTCAGACACATACCCCGGCTACCCCACTTCTAAGCCTTCTAGAGAGGGCCTCAATCCGTGGAACTCTCAATACTTAGCACATAATAGATTTAATTGTTTCCTACAGTTGCCCCTTGTAATTCTGTGCAAGGGGGACCTCCCCAGTTCAGGTCCCACGGTGTCACACAGAAAGCCCCGCTAAGGGCTGAGGTCCTGATGGGGCCCCACAGAGCTACCTCTGGGTCCCCATTACCCTGCGACGTCAGTCTGGGCTTCCTTCGGGCTAGCTGGGGGCTGCAGGGTCTGGTTTCCAACCTGTGGGACGTTGGCAGGGGCCGCAAGCAGAGGGACTGGGCAGCTCGTGGGCGGGAAGGTGCCCCGGCGGGCTTCGGGCTGCAGGGCACAACCGTCCCGCCCAGGGCCCCGGCAACATGCCCCGGCTTTTCCGCTCAATTGGGAAAGCAACTGGAGCAGAAGGCGTAGGCGCACGCGGAGCGGGCGACCGCACGTATTCTCCCGGAGGCCCCGCGCTTCTGGCACCCAGAGGCTCAGCCTGGTAGGGGAGGGCCAGGCGGCGGGCGGGAGAGGAGGAGAGGCGGCGGGCGGCGAAGAGGCGGCGGGCTCGTGGCACCTGCCCAGCCCCGTGGGTCCTCACGCTACCCAGGACACGCTACTGTGCGGCTGGGAACCACGGGGGCCGGGGGTGCAGGAGCTGGAGAGGTGCGGAGACCACAGGACTGGCGCGATAGAAAGGGGTCTCGTGCTGGTGGTCAGGGACAGCGCCTCGGTGGCCCCAAGACCCATGAATTGTCTCTGGAACTGCAGGAACAGCTCCGGGTCGTATCGGAAGTTGGGGTTCGCCAACAATGGCTCCCCAAGACCTGAGATCCCCGCCCTCAGGTGACTCCCCTCCCCCGCATACCGCCTCCTACCTGAACAGAGGCGGGAGCCCGAATAGGACGGGGCGGGGCTAGCGAAGGCTGCGCAAGCGCGGCCGGCGGGGGCGTGGTCTTCGCCTGCTGCTTCGCTTGCCGGCCAGTGGAGTTCCCCGCCCCACATGCCGGGGACGTCGACTTACTCCCTCCCGCTGGTCACGCTGCTCCTTGGACGAACGAGCATAGCGCCCCTTAGGGGCTGGGCACGGCATGTCCAATTCTTAAGTGGTTGCATTCAACAAACCAGTTTTTAGTGAGTGCCCTCCTCTACAAAACACACCGAACACTAAGGTGATAATCATTGTTCCCAAGTTGCTCACAGTCTGGGAAAGGTGTTGTAGGAACACACAGTATTTTCTTTTTTTCTTTTTTTTTTTTTTTGAAACAGTCTCGCTCAGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTTCGGCTCACTGCAAGCTCCTCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGANNNN | pathogenic | 188,992 |
The genetic variant at chromosome 11, position 119029310, affecting gene SLC37A4 (solute carrier family 37 member 4): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Glucose-6-phosphate_transport_defect'] | GCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTGCTTGCCTGTGAAACCAGCTTTGATTAAAGGTTCAACCTAATTACTTTTGTCTGCCTGAGCCCAGGGGAGGCAGGGGTGGGATGAGCAGAGATGCCCTCTCTAGCCCTGCTCCCTCAGTCACAGAACCTTCTCATTCATTCACGGAAGGTTTATTAACTTACTAGTTGACAGGCACTGCACTTGGCACTATTAGTTTCTACACCCACTCACCACCACCGCACCAAAACACAAAGTCAGACACATACCCCGGCTACCCCACTTCTAAGCCTTCTAGAGAGGGCCTCAATCCGTGGAACTCTCAATACTTAGCACATAATAGATTTAATTGTTTCCTACAGTTGCCCCTTGTAATTCTGTGCAAGGGGGACCTCCCCAGTTCAGGTCCCACGGTGTCACACAGAAAGCCCCGCTAAGGGCTGAGGTCCTGATGGGGCCCCACAGAGCTACCTCTGGGTCCCCATTACCCTGCGACGTCAGTCTGGGCTTCCTTCGGGCTAGCTGGGGGCTGCAGGGTCTGGTTTCCAACCTGTGGGACGTTGGCAGGGGCCGCAAGCAGAGGGACTGGGCAGCTCGTGGGCGGGAAGGTGCCCCGGCGGGCTTCGGGCTGCAGGGCACAACCGTCCCGCCCAGGGCCCCGGCAACATGCCCCGGCTTTTCCGCTCAATTGGGAAAGCAACTGGAGCAGAAGGCGTAGGCGCACGCGGAGCGGGCGACCGCACGTATTCTCCCGGAGGCCCCGCGCTTCTGGCACCCAGAGGCTCAGCCTGGTAGGGGAGGGCCAGGCGGCGGGCGGGAGAGGAGGAGAGGCGGCGGGCGGCGAAGAGGCGGCGGGCTCGTGGCACCTGCCCAGCCCCGTGGGTCCTCACGCTACCCAGGACACGCTACTGTGCGGCTGGGAACCACGGGGGCCGGGGGTGCAGGAGCTGGAGAGGTGCGGAGACCACAGGACTGGCGCGATAGAAAGGGGTCTCGTGCTGGTGGTCAGGGACAGCGCCTCGGTGGCCCCAAGACCCATGAATTGTCTCTGGAACTGCAGGAACAGCTCCGGGTCGTATCGGAAGTTGGGGTTCGCCAACAATGGCTCCCCAAGACCTGAGATCCCCGCCCTCAGGTGACTCCCCTCCCCCGCATACCGCCTCCTACCTGAACAGAGGCGGGAGCCCGAATAGGACGGGGCGGGGCTAGCGAAGGCTGCGCAAGCGCGGCCGGCGGGGGCGTGGTCTTCGCCTGCTGCTTCGCTTGCCGGCCAGTGGAGTTCCCCGCCCCACATGCCGGGGACGTCGACTTACTCCCTCCCGCTGGTCACGCTGCTCCTTGGACGAACGAGCATAGCGCCCCTTAGGGGCTGGGCACGGCATGTCCAATTCTTAAGTGGTTGCATTCAACAAACCAGTTTTTAGTGAGTGCCCTCCTCTACAAAACACACCGAACACTAAGGTGATAATCATTGTTCCCAAGTTGCTCACAGTCTGGGAAAGGTGTTGTAGGAACACACAGTATTTTCTTTTTTTCTTTTTTTTTTTTTTTGAAACAGTCTCGCTCAGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTTCGGCTCACTGCAAGCTCCTCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGGC | GCAAGGTCAATGAATGAGAAACAGGACCAGGGAGGACCAAGCCACTTAAGGACCAAGCTCAATGAATGAAAGACAAACAGGACCAAGCCACTAAAGCTCATGATTCTATCTATCCAGGACAGGGAAGTCTGTGCTGTTGTGAGGAAGGGCCAGAAAATAACGAGTCACAGCACTTGCTGGCTCTGCCGCTTGTCCAGTACTTGACTGCCTCTTGGGATGGATTTGTGTTTGCTACCCATGCAGCCTACATCACCACCTCTTCCCCCACATCCACTGACCAGCACAGGACCGGGCAAACGCCTAGTCTTCAACAAACATCTGCCTGCTAAATGAGTGCCCCAGTGGTCGGTCTGGGTGGGGGCTCACCCTTCTTGCCCTCAGAGGGCATGGGGTCCAGGTTGCGGAGTCCAACATCAGCAGGTTCATTGTGGATGAGCAGGAGACAGAGGAAGGAGACAACCACACCACAGTGCCCCAGATAGGGCCAGCGTGCTGCGCCAGCTGTAGCTCTGGGCAAGGATGGTTGCCAGGATAGGGCCCAGCCCTCCAGCCAGGTTCATGCTGGTTGACAGGATGGCCCACCAAGTGCCAAACTGAGATGGCTCAAACCACTGTGGGGCAGAGGGCGACACGTAGGTGTCCAGCCTACTGCCCATGTTGAGGGTGGGGTCAGATGGGGCAGCCCCAGAAGCTCACATTACAGGGAAGAGGGAGAGGGCGCTTCTGTTTGGCAGGGCAGTTTCCTCCTCTGCCACCTGATCCCACCACTCTCAGCCTCCTAAAATATCTTGACAAGCAATAGGAGCTGGCCAGGAACTGCTCAGGAACCTGCTCTGGGTTGGGTGTGGAGGTGGTGGGTAAGAAAGGGCGCTCCCACATGCTCTTTAGGCATCCTCTATGACAATCCAAACAGGCTCTTTGGAAGCACTCACCTTCCGCAGGACCTTCCCACATGGGGGCCAGCCCAGCCCCTGGGCCAGGCCATTAAGGAACCAGAGGGCAGCAAAGACAGGTACTGTGGAGCTCCAGGCAAAGAATATGTTGACCAGGCCAACCAGGAGCAGCCCAGAAGAGAAGAGCCAGCGAGCACTCATCTGGTCAGACAGCACCCCACTGACAAACTTGCTGATAGCATAAGCTGCCGACTGGCTGCTGGTGATGAACCCTGCAGGGAACATTACACTTAGGGGTTAGGGACCAGGGGAGAAACACAGGAGCAATGAAAGAAGGCATGGGGTCAGGTGTGCAGGGGTGCCCAGTGGGGTGAGACAGGTTACTTCCCAGAGGAACAGGAGGAGCCTGTGCTGCAATCTGACACTCATGGGGCCCTACTACTTCGGCCACTTCTCCTGCCTCACCATCGGCACTAGCCCCAGACTGACCCATGATTCTCAGCTACAGTTGTCAGGGAACAAAAAGGGAGCAGGACGTGGCAGTTCCCCCTCCCTGGGATTTGCATATGGGATTTCCCACCTCACTCTGGATGCCAGTCCCGGGCCTCTAGCAGTTCTGTTGCTCCACCACCCAACATGGGGCAAAGGGCTCAGGATTGGAGTCAGGGACCTTGTCCCTCCTGAAGGGTAGCATGCCAGGCCACATGAAGTCGTTGTGCCAACTTTTTAGTTCCCAGTGCTCACAGTGTCAGTAGCCAGCACTCACCCTGAAGCCTCCACATGCACCCACACAGGTGTGAAAACCATGCTCAGAAGCCCCTCAAACACTCTCGGAATAAACAGTGCCTCCAGGGCATGCACACACACGTCAAATAAGCAGCCCTCCTTAGCCCCGCAGGCACCCATGTCCATGGATCTCAGAGCTTCTTTATCTGGCATATGCAGACTGGCCCCTGGCCTCTACTGTGCAGACAATCCACCCACACCACATGCCTGTACACAAACACCCAGTGTGTCTGGCTGGTTCTGTGTCCCCAGGTCCACCACCCTGCTGTTTCAGGGCTCACCCAAATCATCCTTGTCCAAAGGGATCTCTTCCACCAATGATGGCATGACAAAGGAGAAGGTCTTGCGATTGAAGTAATACAGGCTGTAGCCCCCCAAACATGGCTGAGAAGATCACAGTGCGATAATAGCCATAGCCCTGGGCTGCCATGGTAGAAAAGAGCAGGCCCTACCAGCCAAGACGCACAGCCTCTGACCACAGTTCCTGCTTGCCGCTCTCACAGTTCCCAGATCTGCTGAGTTGGGTTTTTTCTGCTCCCTCCTCCACCCAGCCTCCCAGGCTCCCTTTATAGCCGCCTTCTGGACAATCATTAAGCCTGGGGAGGCTCCAAGGGGACCCAGTGTCCTGAGGGAGACAAGAAAACAAGAGATTACTGAGCGCCAAACTGTAGGGGGTGGAGGAGGTCCCGGAAGGAGGCATGCCTGTGAGCCAGGCCAGCACCCTGTGTCCCCAGGATTTCTGCCTTTACCTCCTCTATCATGTCTGCTTGCCTGTGAAACCAGCTTTGATTAAAGGTTCAACCTAATTACTTTTGTCTGCCTGAGCCCAGGGGAGGCAGGGGTGGGATGAGCAGAGATGCCCTCTCTAGCCCTGCTCCCTCAGTCACAGAACCTTCTCATTCATTCACGGAAGGTTTATTAACTTACTAGTTGACAGGCACTGCACTTGGCACTATTAGTTTCTACACCCACTCACCACCACCGCACCAAAACACAAAGTCAGACACATACCCCGGCTACCCCACTTCTAAGCCTTCTAGAGAGGGCCTCAATCCGTGGAACTCTCAATACTTAGCACATAATAGATTTAATTGTTTCCTACAGTTGCCCCTTGTAATTCTGTGCAAGGGGGACCTCCCCAGTTCAGGTCCCACGGTGTCACACAGAAAGCCCCGCTAAGGGCTGAGGTCCTGATGGGGCCCCACAGAGCTACCTCTGGGTCCCCATTACCCTGCGACGTCAGTCTGGGCTTCCTTCGGGCTAGCTGGGGGCTGCAGGGTCTGGTTTCCAACCTGTGGGACGTTGGCAGGGGCCGCAAGCAGAGGGACTGGGCAGCTCGTGGGCGGGAAGGTGCCCCGGCGGGCTTCGGGCTGCAGGGCACAACCGTCCCGCCCAGGGCCCCGGCAACATGCCCCGGCTTTTCCGCTCAATTGGGAAAGCAACTGGAGCAGAAGGCGTAGGCGCACGCGGAGCGGGCGACCGCACGTATTCTCCCGGAGGCCCCGCGCTTCTGGCACCCAGAGGCTCAGCCTGGTAGGGGAGGGCCAGGCGGCGGGCGGGAGAGGAGGAGAGGCGGCGGGCGGCGAAGAGGCGGCGGGCTCGTGGCACCTGCCCAGCCCCGTGGGTCCTCACGCTACCCAGGACACGCTACTGTGCGGCTGGGAACCACGGGGGCCGGGGGTGCAGGAGCTGGAGAGGTGCGGAGACCACAGGACTGGCGCGATAGAAAGGGGTCTCGTGCTGGTGGTCAGGGACAGCGCCTCGGTGGCCCCAAGACCCATGAATTGTCTCTGGAACTGCAGGAACAGCTCCGGGTCGTATCGGAAGTTGGGGTTCGCCAACAATGGCTCCCCAAGACCTGAGATCCCCGCCCTCAGGTGACTCCCCTCCCCCGCATACCGCCTCCTACCTGAACAGAGGCGGGAGCCCGAATAGGACGGGGCGGGGCTAGCGAAGGCTGCGCAAGCGCGGCCGGCGGGGGCGTGGTCTTCGCCTGCTGCTTCGCTTGCCGGCCAGTGGAGTTCCCCGCCCCACATGCCGGGGACGTCGACTTACTCCCTCCCGCTGGTCACGCTGCTCCTTGGACGAACGAGCATAGCGCCCCTTAGGGGCTGGGCACGGCATGTCCAATTCTTAAGTGGTTGCATTCAACAAACCAGTTTTTAGTGAGTGCCCTCCTCTACAAAACACACCGAACACTAAGGTGATAATCATTGTTCCCAAGTTGCTCACAGTCTGGGAAAGGTGTTGTAGGAACACACAGTATTTTCTTTTTTTCTTTTTTTTTTTTTTTGAAACAGTCTCGCTCAGTCGCCCAGGCTGGAGTGCAGTGGCGCGATTTCGGCTCACTGCAAGCTCCTCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGG | pathogenic | 188,993 |
Variant on chromosome 11, at position 119092799, affecting HMBS (hydroxymethylbilane synthase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Acute_intermittent_porphyria'] | TGGGATTACAGGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTAGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCAGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCTTGAGCCCCGCACCCGGTCAGTACTTCCATTTTTATATGCTACTATATTGTCTTGACTTTTACAATGAATATGTAGTACATTTCATAAAACTAAATTTAAAAATAGTATGTGCTAAGTGCTCCAATAAGTGAAGTTGGGAATTTTCTGGAAACTTCTAGTTGGAACATCTAAACACAGAAGTCTGGGGTGTCAGGGAAGGTTTCTCAGAGGTCTTGTAACCTTGGCAAGTTATTTAGCCTCCCTATGTCATTTTCCTTATCTGTAAAGTGGGGATAATAATACTACCTTCCTCACAGGGTTGTTGTGAAGATGAAATGAGCTGACATATGGAAAGTACTTTTAGAGCAGTGTCTGGCATGTAGTAAGTATGATGTAACTGTTAGCTGTTAACATTAAGCTGAGAGCTGGAAGATGACTGAAAGTCAGCCAGCTAGAGAGGGAAAGACAGACTCAGGCAGAGGGAACCGCACGAGGCCCCAGATTGCCCGACACTGTGGTCCTTAGCAACTCTCCACAGCGGGGAAACCTCAACACCCGGCTTCGGAAGCTGGACGAGCAGCAGGAGTTCAGTGCCATCATCCTGGCAACAGCTGGCCTGCAGCGCATGGGCTGGCACAACCGGGTGGGGCAGGTAGGGCCTGCCCCTATCCTCTCCCCAGCTCATCTGCATCTCCTTTCTGCCTTACAGTCATCCCCAATTTAGGATTTTTAGACTTTATGATTGTGTGAAAGCGATATACGTTCAGTAGAAACTGTACTTAGTACCCATACAGCCATTCTGTTTTTTACTTTCAGTACAGTATTCATTACATGAGATATTCACTTTATTGTAAAACAGGCTTGGTGTCAGATGATTTTGTCCAACTATAATAGGCTAATCTTAAGTGTTCTGAGCACATGTAAGGTAGGCTAGGTGTATTAAATGCATTTTCAGCTTGTTTTCAACTTAACAATGGGTTTATCAGGATGTAACCCTATTGTAAGTCAAGGACCATCTGTCTTCACTTCTTGACCACCCCACCTCTAACACCGTAGGCTGGGAAGATTGTGAATCAGAGGCCAGACTCTAGGCTTTCATGGAGAAAATTTACAAAAAAAAAAAAAAAGAGGCCAGACTCACACTTAGGCCTACCCAGGCTTTCTAGATGATAGGGAACTCCCATCTCACTGCCAGGTGCTTTTAGACACCCCCGTGTCCACCCTTTTGACTCCCTGTTCCGCCTCCACAGATCCTGCACCCTGAGGAATGCATGTATGCTGTGGGCCAGGTACACTTGACCAGGGAAGCCACATGGTGACATATGCCTTCCCTTTGTTCTCAACCAAGAAGCTTGTCTCACAACCTTCTGCATCTGCTTCCCCAGAATAGCATTCTCAGGGAGGGGCAGACCTTGGGATGCTACCGGTCCAAAAGGCGCTGGGGAGCAAGTAGATAGAGGTGGTCCCATGCTTTGCGCCATTGGTTGGGGAAAGATCAGGCCTGATGTCCTAGGATGTTTTTCCATCAGGGGGCCTTGGGCGTGGAAGTGCGAGCCAAGGACCAGGACATCTTGGATCTGGTGGGTGTGCTGCACGATCCCGAGACTCTGCTTCGCTGCATCGCTGAAAGGGCCTTCCTGAGGCACCTGGTAGGGCCTGTGCTCCACCTGTGGAGGGCTGGGGACTTGGAGAGCTGGGAAAGGTGGCAGGGAAGATTTCTTACATGAATGCTCTGTATACAGTGCTAACTCATTCTTGTTGAATGTTGTGTATGGATAGGACCAGGTCTGGGCCCACAGTTGCCTTTTCAGTGATGTCCTCAGGTCTGTGGTCACAGGGTGGTGTTAAGAGCCCTTGCAGCTCACAAGAACTTCTTGTTACAGGAAGGAGGCTGCAGTGTGCCAGTAGCCGTGCATACAGCTATGAAGGATGGGCAAGTAAGTGGGGGGAAATGGGCGGGAAGCCAGGGAAAGGAGGACTGTGGCATTTCTTCCTGTGCATCCCAGGTTTCTAGGTAGTCCCCTCTCAGACTGTGCTGAGGCAACTGTTTTCTTCCCCAGCTGTACCTGACTGGAGGAGTCTGGAGTCTAGACGGCTCAGATAGCATACAAGAGACCATGCAGGCTACCATCCATGTCCCTGCCCAGGTACCAAAGCTGGAGGGCGAGGGGGTAATAAACAAGAGTGCATATAATCTCTTGTTCTCACCAAATCCCACCTCCTTCCCTCATACAGCATGAAGATGGCCCTGAGGATGACCCACAGTTGGTAGGCATCACTGCTCGTAACATTCCACGAGGGCCCCAGTTGGCTGCCCAGAACTTGGGCATCAGCCTGGCCAACTTGTTGCTGAGCAAAGGAGCCAAAAACATCCTGGATGTTGCACGGCAGCTTAACGATGCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCTACATCCCGGGCCTCAGTGCCCCATTCTCACTGCTATCTGGGGAGTGATTACCCCGGGAGACTGAACTGCAGGGTTCAAGCCTTCCAGGGATTTGCCTCACCTTGGGGCCTTGATGACTGCCTTGCCTCCTCAGTATGTGGGGGCTTCATCTCTTTAGAGAAGTCCAAGCAACAGCCTTTGAATGTAACCAATCCTACTAATAAACCAGTTCTGAAGGTGTTGTGTGTGCGCGTGTGGAGTTGGCGGGAAGATAGGAACAAACACAAAGCCCTTTCATCCTTACCTCAGAGGCTGGGACTTTTGCCCAGAGTTCTCCTGGTACGTCCTTTCTGCTTCTGCCTCAATAGTTTTCATTTCACACAGAATAAATTGTCTCCCAGGAACACCAAGAAACAGAGCCACAATCTTAAATTCCTATGGTTTGCCCCTTCAGTTAACAGTAGAGCCTGTTTATATTGCATGGCCCCTCCCACCCCTATTATCAGGAAAGTATAGAAAGTCACTAATTCTACAACTCTCTTGCAAAATGAAAACAAACGCTCCATTTAAAAAAAAAACAATCCTTTAATAAAATTAGTCCATCTAAAACTCCCCAATGCCTAAGGTTCTAGTCGTGGAAGGGTTAGCTGCAGAATTCCAGTTCAGAAGCCAACGGAGGCTCAGTCCAGACAGGGATTAACCGACTTGTGCTGGTATCTAGGTGCTTGGATTGCCGAGTTGAGTTTGCTGGAAGGGAAATGGGGCGGCGTCGGGGGGCCCGACAGGCCTGGCTGCCAGTCGGCTTCCGCGAAAACGACTCTTGCTGTCCACATAGCCAGCCGTGAAGCCAAACTGCAGGCCTCTGCCCTCCCCTAAATGTCCTCCTAGGAGGCAGTCACTCGGGAGGAAGATGTGCCTGTTACCAAGTGCTTCGTCCCGGCCCCAGCGCAGACCTATGAATGAAGATGGAGGGAGAGCTGATGTGAAAGGCCTGGGTCCCGGCCGCAGAAGGGGCGCCAGACCGAAATCGGCGATCGCGTCTCTCCCACCAAAGCCTCCCGGCCAGCGGCCGCGTCTGAAAGTCCTGGGCTAAGCACCACGCCGGGGGGGTACCAGACACCCCGGCTGCAGCTGCCGAGGGCCTCACTCACCTTCAGGGCCGCCGGCCTCTCGGCCTGGACTGCCCACCTCGGCCCTGCGTCAGAGCGGAAGGCCAAGTCTTCCAGAAGGTGCTGCGGCCTCCCCGCAGCCCCTTAGCGACTCGGGATGGGGCGGCTGAGTCACGAACGCCGAGGCGGGCAGGTGCGGCGCCGCCGGCCTCCCCCCGGCAGGCTCGGGTCTTCCGCGCCACGGAGGTCCCCGAAGAGCGCCCAAGCCGCATCCGGAAGGCCCGAACCCTACCGGAGGGCGGACGGCGGACAGGGCAGGGCCCGAGGCCGACGCGGCAGGCGGTGCGGGACGGGAGCGGGGGCGGGCGGGGACTCGAGGCCGGGCGGCGAAGGCGGGCGAGGGGAGGGGAGGGGAAGGGAGCCGCGGCC | TGGGATTACAGGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTAGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCAGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCTTGAGCCCCGCACCCGGTCAGTACTTCCATTTTTATATGCTACTATATTGTCTTGACTTTTACAATGAATATGTAGTACATTTCATAAAACTAAATTTAAAAATAGTATGTGCTAAGTGCTCCAATAAGTGAAGTTGGGAATTTTCTGGAAACTTCTAGTTGGAACATCTAAACACAGAAGTCTGGGGTGTCAGGGAAGGTTTCTCAGAGGTCTTGTAACCTTGGCAAGTTATTTAGCCTCCCTATGTCATTTTCCTTATCTGTAAAGTGGGGATAATAATACTACCTTCCTCACAGGGTTGTTGTGAAGATGAAATGAGCTGACATATGGAAAGTACTTTTAGAGCAGTGTCTGGCATGTAGTAAGTATGATGTAACTGTTAGCTGTTAACATTAAGCTGAGAGCTGGAAGATGACTGAAAGTCAGCCAGCTAGAGAGGGAAAGACAGACTCAGGCAGAGGGAACCGCACGAGGCCCCAGATTGCCCGACACTGTGGTCCTTAGCAACTCTCCACAGCGGGGAAACCTCAACACCCGGCTTCGGAAGCTGGACGAGCAGCAGGAGTTCAGTGCCATCATCCTGGCAACAGCTGGCCTGCAGCGCATGGGCTGGCACAACCGGGTGGGGCAGGTAGGGCCTGCCCCTATCCTCTCCCCAGCTCATCTGCATCTCCTTTCTGCCTTACAGTCATCCCCAATTTAGGATTTTTAGACTTTATGATTGTGTGAAAGCGATATACGTTCAGTAGAAACTGTACTTAGTACCCATACAGCCATTCTGTTTTTTACTTTCAGTACAGTATTCATTACATGAGATATTCACTTTATTGTAAAACAGGCTTGGTGTCAGATGATTTTGTCCAACTATAATAGGCTAATCTTAAGTGTTCTGAGCACATGTAAGGTAGGCTAGGTGTATTAAATGCATTTTCAGCTTGTTTTCAACTTAACAATGGGTTTATCAGGATGTAACCCTATTGTAAGTCAAGGACCATCTGTCTTCACTTCTTGACCACCCCACCTCTAACACCGTAGGCTGGGAAGATTGTGAATCAGAGGCCAGACTCTAGGCTTTCATGGAGAAAATTTACAAAAAAAAAAAAAAAGAGGCCAGACTCACACTTAGGCCTACCCAGGCTTTCTAGATGATAGGGAACTCCCATCTCACTGCCAGGTGCTTTTAGACACCCCCGTGTCCACCCTTTTGACTCCCTGTTCCGCCTCCACAGATCCTGCACCCTGAGGAATGCATGTATGCTGTGGGCCAGGTACACTTGACCAGGGAAGCCACATGGTGACATATGCCTTCCCTTTGTTCTCAACCAAGAAGCTTGTCTCACAACCTTCTGCATCTGCTTCCCCAGAATAGCATTCTCAGGGAGGGGCAGACCTTGGGATGCTACCGGTCCAAAAGGCGCTGGGGAGCAAGTAGATAGAGGTGGTCCCATGCTTTGCGCCATTGGTTGGGGAAAGATCAGGCCTGATGTCCTAGGATGTTTTTCCATCAGGGGGCCTTGGGCGTGGAAGTGCGAGCCAAGGACCAGGACATCTTGGATCTGGTGGGTGTGCTGCACGATCCCGAGACTCTGCTTCGCTGCATCGCTGAAAGGGCCTTCCTGAGGCACCTGGTAGGGCCTGTGCTCCACCTGTGGAGGGCTGGGGACTTGGAGAGCTGGGAAAGGTGGCAGGGAAGATTTCTTACATGAATGCTCTGTATACAGTGCTAACTCATTCTTGTTGAATGTTGTGTATGGATAGGACCAGGTCTGGGCCCACAGTTGCCTTTTCAGTGATGTCCTCAGGTCTGTGGTCACAGGGTGGTGTTAAGAGCCCTTGCAGCTCACAAGAACTTCTTGTTACAGGAAGGAGGCTGCAGTGTGCCAGTAGCCGTGCATACAGCTATGAGGATGGGCAAGTAAGTGGGGGGAAATGGGCGGGAAGCCAGGGAAAGGAGGACTGTGGCATTTCTTCCTGTGCATCCCAGGTTTCTAGGTAGTCCCCTCTCAGACTGTGCTGAGGCAACTGTTTTCTTCCCCAGCTGTACCTGACTGGAGGAGTCTGGAGTCTAGACGGCTCAGATAGCATACAAGAGACCATGCAGGCTACCATCCATGTCCCTGCCCAGGTACCAAAGCTGGAGGGCGAGGGGGTAATAAACAAGAGTGCATATAATCTCTTGTTCTCACCAAATCCCACCTCCTTCCCTCATACAGCATGAAGATGGCCCTGAGGATGACCCACAGTTGGTAGGCATCACTGCTCGTAACATTCCACGAGGGCCCCAGTTGGCTGCCCAGAACTTGGGCATCAGCCTGGCCAACTTGTTGCTGAGCAAAGGAGCCAAAAACATCCTGGATGTTGCACGGCAGCTTAACGATGCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCTACATCCCGGGCCTCAGTGCCCCATTCTCACTGCTATCTGGGGAGTGATTACCCCGGGAGACTGAACTGCAGGGTTCAAGCCTTCCAGGGATTTGCCTCACCTTGGGGCCTTGATGACTGCCTTGCCTCCTCAGTATGTGGGGGCTTCATCTCTTTAGAGAAGTCCAAGCAACAGCCTTTGAATGTAACCAATCCTACTAATAAACCAGTTCTGAAGGTGTTGTGTGTGCGCGTGTGGAGTTGGCGGGAAGATAGGAACAAACACAAAGCCCTTTCATCCTTACCTCAGAGGCTGGGACTTTTGCCCAGAGTTCTCCTGGTACGTCCTTTCTGCTTCTGCCTCAATAGTTTTCATTTCACACAGAATAAATTGTCTCCCAGGAACACCAAGAAACAGAGCCACAATCTTAAATTCCTATGGTTTGCCCCTTCAGTTAACAGTAGAGCCTGTTTATATTGCATGGCCCCTCCCACCCCTATTATCAGGAAAGTATAGAAAGTCACTAATTCTACAACTCTCTTGCAAAATGAAAACAAACGCTCCATTTAAAAAAAAAACAATCCTTTAATAAAATTAGTCCATCTAAAACTCCCCAATGCCTAAGGTTCTAGTCGTGGAAGGGTTAGCTGCAGAATTCCAGTTCAGAAGCCAACGGAGGCTCAGTCCAGACAGGGATTAACCGACTTGTGCTGGTATCTAGGTGCTTGGATTGCCGAGTTGAGTTTGCTGGAAGGGAAATGGGGCGGCGTCGGGGGGCCCGACAGGCCTGGCTGCCAGTCGGCTTCCGCGAAAACGACTCTTGCTGTCCACATAGCCAGCCGTGAAGCCAAACTGCAGGCCTCTGCCCTCCCCTAAATGTCCTCCTAGGAGGCAGTCACTCGGGAGGAAGATGTGCCTGTTACCAAGTGCTTCGTCCCGGCCCCAGCGCAGACCTATGAATGAAGATGGAGGGAGAGCTGATGTGAAAGGCCTGGGTCCCGGCCGCAGAAGGGGCGCCAGACCGAAATCGGCGATCGCGTCTCTCCCACCAAAGCCTCCCGGCCAGCGGCCGCGTCTGAAAGTCCTGGGCTAAGCACCACGCCGGGGGGGTACCAGACACCCCGGCTGCAGCTGCCGAGGGCCTCACTCACCTTCAGGGCCGCCGGCCTCTCGGCCTGGACTGCCCACCTCGGCCCTGCGTCAGAGCGGAAGGCCAAGTCTTCCAGAAGGTGCTGCGGCCTCCCCGCAGCCCCTTAGCGACTCGGGATGGGGCGGCTGAGTCACGAACGCCGAGGCGGGCAGGTGCGGCGCCGCCGGCCTCCCCCCGGCAGGCTCGGGTCTTCCGCGCCACGGAGGTCCCCGAAGAGCGCCCAAGCCGCATCCGGAAGGCCCGAACCCTACCGGAGGGCGGACGGCGGACAGGGCAGGGCCCGAGGCCGACGCGGCAGGCGGTGCGGGACGGGAGCGGGGGCGGGCGGGGACTCGAGGCCGGGCGGCGAAGGCGGGCGAGGGGAGGGGAGGGGAAGGGAGCCGCGGCCN | pathogenic | 189,088 |
Is the genetic change at chromosome 11, position 119092972, within gene HMBS (hydroxymethylbilane synthase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic | TTTTTATATGCTACTATATTGTCTTGACTTTTACAATGAATATGTAGTACATTTCATAAAACTAAATTTAAAAATAGTATGTGCTAAGTGCTCCAATAAGTGAAGTTGGGAATTTTCTGGAAACTTCTAGTTGGAACATCTAAACACAGAAGTCTGGGGTGTCAGGGAAGGTTTCTCAGAGGTCTTGTAACCTTGGCAAGTTATTTAGCCTCCCTATGTCATTTTCCTTATCTGTAAAGTGGGGATAATAATACTACCTTCCTCACAGGGTTGTTGTGAAGATGAAATGAGCTGACATATGGAAAGTACTTTTAGAGCAGTGTCTGGCATGTAGTAAGTATGATGTAACTGTTAGCTGTTAACATTAAGCTGAGAGCTGGAAGATGACTGAAAGTCAGCCAGCTAGAGAGGGAAAGACAGACTCAGGCAGAGGGAACCGCACGAGGCCCCAGATTGCCCGACACTGTGGTCCTTAGCAACTCTCCACAGCGGGGAAACCTCAACACCCGGCTTCGGAAGCTGGACGAGCAGCAGGAGTTCAGTGCCATCATCCTGGCAACAGCTGGCCTGCAGCGCATGGGCTGGCACAACCGGGTGGGGCAGGTAGGGCCTGCCCCTATCCTCTCCCCAGCTCATCTGCATCTCCTTTCTGCCTTACAGTCATCCCCAATTTAGGATTTTTAGACTTTATGATTGTGTGAAAGCGATATACGTTCAGTAGAAACTGTACTTAGTACCCATACAGCCATTCTGTTTTTTACTTTCAGTACAGTATTCATTACATGAGATATTCACTTTATTGTAAAACAGGCTTGGTGTCAGATGATTTTGTCCAACTATAATAGGCTAATCTTAAGTGTTCTGAGCACATGTAAGGTAGGCTAGGTGTATTAAATGCATTTTCAGCTTGTTTTCAACTTAACAATGGGTTTATCAGGATGTAACCCTATTGTAAGTCAAGGACCATCTGTCTTCACTTCTTGACCACCCCACCTCTAACACCGTAGGCTGGGAAGATTGTGAATCAGAGGCCAGACTCTAGGCTTTCATGGAGAAAATTTACAAAAAAAAAAAAAAAGAGGCCAGACTCACACTTAGGCCTACCCAGGCTTTCTAGATGATAGGGAACTCCCATCTCACTGCCAGGTGCTTTTAGACACCCCCGTGTCCACCCTTTTGACTCCCTGTTCCGCCTCCACAGATCCTGCACCCTGAGGAATGCATGTATGCTGTGGGCCAGGTACACTTGACCAGGGAAGCCACATGGTGACATATGCCTTCCCTTTGTTCTCAACCAAGAAGCTTGTCTCACAACCTTCTGCATCTGCTTCCCCAGAATAGCATTCTCAGGGAGGGGCAGACCTTGGGATGCTACCGGTCCAAAAGGCGCTGGGGAGCAAGTAGATAGAGGTGGTCCCATGCTTTGCGCCATTGGTTGGGGAAAGATCAGGCCTGATGTCCTAGGATGTTTTTCCATCAGGGGGCCTTGGGCGTGGAAGTGCGAGCCAAGGACCAGGACATCTTGGATCTGGTGGGTGTGCTGCACGATCCCGAGACTCTGCTTCGCTGCATCGCTGAAAGGGCCTTCCTGAGGCACCTGGTAGGGCCTGTGCTCCACCTGTGGAGGGCTGGGGACTTGGAGAGCTGGGAAAGGTGGCAGGGAAGATTTCTTACATGAATGCTCTGTATACAGTGCTAACTCATTCTTGTTGAATGTTGTGTATGGATAGGACCAGGTCTGGGCCCACAGTTGCCTTTTCAGTGATGTCCTCAGGTCTGTGGTCACAGGGTGGTGTTAAGAGCCCTTGCAGCTCACAAGAACTTCTTGTTACAGGAAGGAGGCTGCAGTGTGCCAGTAGCCGTGCATACAGCTATGAAGGATGGGCAAGTAAGTGGGGGGAAATGGGCGGGAAGCCAGGGAAAGGAGGACTGTGGCATTTCTTCCTGTGCATCCCAGGTTTCTAGGTAGTCCCCTCTCAGACTGTGCTGAGGCAACTGTTTTCTTCCCCAGCTGTACCTGACTGGAGGAGTCTGGAGTCTAGACGGCTCAGATAGCATACAAGAGACCATGCAGGCTACCATCCATGTCCCTGCCCAGGTACCAAAGCTGGAGGGCGAGGGGGTAATAAACAAGAGTGCATATAATCTCTTGTTCTCACCAAATCCCACCTCCTTCCCTCATACAGCATGAAGATGGCCCTGAGGATGACCCACAGTTGGTAGGCATCACTGCTCGTAACATTCCACGAGGGCCCCAGTTGGCTGCCCAGAACTTGGGCATCAGCCTGGCCAACTTGTTGCTGAGCAAAGGAGCCAAAAACATCCTGGATGTTGCACGGCAGCTTAACGATGCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCTACATCCCGGGCCTCAGTGCCCCATTCTCACTGCTATCTGGGGAGTGATTACCCCGGGAGACTGAACTGCAGGGTTCAAGCCTTCCAGGGATTTGCCTCACCTTGGGGCCTTGATGACTGCCTTGCCTCCTCAGTATGTGGGGGCTTCATCTCTTTAGAGAAGTCCAAGCAACAGCCTTTGAATGTAACCAATCCTACTAATAAACCAGTTCTGAAGGTGTTGTGTGTGCGCGTGTGGAGTTGGCGGGAAGATAGGAACAAACACAAAGCCCTTTCATCCTTACCTCAGAGGCTGGGACTTTTGCCCAGAGTTCTCCTGGTACGTCCTTTCTGCTTCTGCCTCAATAGTTTTCATTTCACACAGAATAAATTGTCTCCCAGGAACACCAAGAAACAGAGCCACAATCTTAAATTCCTATGGTTTGCCCCTTCAGTTAACAGTAGAGCCTGTTTATATTGCATGGCCCCTCCCACCCCTATTATCAGGAAAGTATAGAAAGTCACTAATTCTACAACTCTCTTGCAAAATGAAAACAAACGCTCCATTTAAAAAAAAAACAATCCTTTAATAAAATTAGTCCATCTAAAACTCCCCAATGCCTAAGGTTCTAGTCGTGGAAGGGTTAGCTGCAGAATTCCAGTTCAGAAGCCAACGGAGGCTCAGTCCAGACAGGGATTAACCGACTTGTGCTGGTATCTAGGTGCTTGGATTGCCGAGTTGAGTTTGCTGGAAGGGAAATGGGGCGGCGTCGGGGGGCCCGACAGGCCTGGCTGCCAGTCGGCTTCCGCGAAAACGACTCTTGCTGTCCACATAGCCAGCCGTGAAGCCAAACTGCAGGCCTCTGCCCTCCCCTAAATGTCCTCCTAGGAGGCAGTCACTCGGGAGGAAGATGTGCCTGTTACCAAGTGCTTCGTCCCGGCCCCAGCGCAGACCTATGAATGAAGATGGAGGGAGAGCTGATGTGAAAGGCCTGGGTCCCGGCCGCAGAAGGGGCGCCAGACCGAAATCGGCGATCGCGTCTCTCCCACCAAAGCCTCCCGGCCAGCGGCCGCGTCTGAAAGTCCTGGGCTAAGCACCACGCCGGGGGGGTACCAGACACCCCGGCTGCAGCTGCCGAGGGCCTCACTCACCTTCAGGGCCGCCGGCCTCTCGGCCTGGACTGCCCACCTCGGCCCTGCGTCAGAGCGGAAGGCCAAGTCTTCCAGAAGGTGCTGCGGCCTCCCCGCAGCCCCTTAGCGACTCGGGATGGGGCGGCTGAGTCACGAACGCCGAGGCGGGCAGGTGCGGCGCCGCCGGCCTCCCCCCGGCAGGCTCGGGTCTTCCGCGCCACGGAGGTCCCCGAAGAGCGCCCAAGCCGCATCCGGAAGGCCCGAACCCTACCGGAGGGCGGACGGCGGACAGGGCAGGGCCCGAGGCCGACGCGGCAGGCGGTGCGGGACGGGAGCGGGGGCGGGCGGGGACTCGAGGCCGGGCGGCGAAGGCGGGCGAGGGGAGGGGAGGGGAAGGGAGCCGCGGCCCGCTTGCCCCGCAGTCTGAAGCGGCTCAGCTCTTTCCATGAGGGCGGTGGTGGCCCTTAAAAGGGCCTTTGTGGTGGCATGGGGAGGCCTGGCGGCCGGCCGCGGCGCGGGCCCTCTTAGTACTCCTGGGAGGCCTGGGTGGCCTTCTTGCCGCCCGAGGGCGCCTTCGGCCC | TTTTTATATGCTACTATATTGTCTTGACTTTTACAATGAATATGTAGTACATTTCATAAAACTAAATTTAAAAATAGTATGTGCTAAGTGCTCCAATAAGTGAAGTTGGGAATTTTCTGGAAACTTCTAGTTGGAACATCTAAACACAGAAGTCTGGGGTGTCAGGGAAGGTTTCTCAGAGGTCTTGTAACCTTGGCAAGTTATTTAGCCTCCCTATGTCATTTTCCTTATCTGTAAAGTGGGGATAATAATACTACCTTCCTCACAGGGTTGTTGTGAAGATGAAATGAGCTGACATATGGAAAGTACTTTTAGAGCAGTGTCTGGCATGTAGTAAGTATGATGTAACTGTTAGCTGTTAACATTAAGCTGAGAGCTGGAAGATGACTGAAAGTCAGCCAGCTAGAGAGGGAAAGACAGACTCAGGCAGAGGGAACCGCACGAGGCCCCAGATTGCCCGACACTGTGGTCCTTAGCAACTCTCCACAGCGGGGAAACCTCAACACCCGGCTTCGGAAGCTGGACGAGCAGCAGGAGTTCAGTGCCATCATCCTGGCAACAGCTGGCCTGCAGCGCATGGGCTGGCACAACCGGGTGGGGCAGGTAGGGCCTGCCCCTATCCTCTCCCCAGCTCATCTGCATCTCCTTTCTGCCTTACAGTCATCCCCAATTTAGGATTTTTAGACTTTATGATTGTGTGAAAGCGATATACGTTCAGTAGAAACTGTACTTAGTACCCATACAGCCATTCTGTTTTTTACTTTCAGTACAGTATTCATTACATGAGATATTCACTTTATTGTAAAACAGGCTTGGTGTCAGATGATTTTGTCCAACTATAATAGGCTAATCTTAAGTGTTCTGAGCACATGTAAGGTAGGCTAGGTGTATTAAATGCATTTTCAGCTTGTTTTCAACTTAACAATGGGTTTATCAGGATGTAACCCTATTGTAAGTCAAGGACCATCTGTCTTCACTTCTTGACCACCCCACCTCTAACACCGTAGGCTGGGAAGATTGTGAATCAGAGGCCAGACTCTAGGCTTTCATGGAGAAAATTTACAAAAAAAAAAAAAAAGAGGCCAGACTCACACTTAGGCCTACCCAGGCTTTCTAGATGATAGGGAACTCCCATCTCACTGCCAGGTGCTTTTAGACACCCCCGTGTCCACCCTTTTGACTCCCTGTTCCGCCTCCACAGATCCTGCACCCTGAGGAATGCATGTATGCTGTGGGCCAGGTACACTTGACCAGGGAAGCCACATGGTGACATATGCCTTCCCTTTGTTCTCAACCAAGAAGCTTGTCTCACAACCTTCTGCATCTGCTTCCCCAGAATAGCATTCTCAGGGAGGGGCAGACCTTGGGATGCTACCGGTCCAAAAGGCGCTGGGGAGCAAGTAGATAGAGGTGGTCCCATGCTTTGCGCCATTGGTTGGGGAAAGATCAGGCCTGATGTCCTAGGATGTTTTTCCATCAGGGGGCCTTGGGCGTGGAAGTGCGAGCCAAGGACCAGGACATCTTGGATCTGGTGGGTGTGCTGCACGATCCCGAGACTCTGCTTCGCTGCATCGCTGAAAGGGCCTTCCTGAGGCACCTGGTAGGGCCTGTGCTCCACCTGTGGAGGGCTGGGGACTTGGAGAGCTGGGAAAGGTGGCAGGGAAGATTTCTTACATGAATGCTCTGTATACAGTGCTAACTCATTCTTGTTGAATGTTGTGTATGGATAGGACCAGGTCTGGGCCCACAGTTGCCTTTTCAGTGATGTCCTCAGGTCTGTGGTCACAGGGTGGTGTTAAGAGCCCTTGCAGCTCACAAGAACTTCTTGTTACAGGAAGGAGGCTGCAGTGTGCCAGTAGCCGTGCATACAGCTATGAAGGATGGGCAAGTAAGTGGGGGGAAATGGGCGGGAAGCCAGGGAAAGGAGGACTGTGGCATTTCTTCCTGTGCATCCCAGGTTTCTAGGTAGTCCCCTCTCAGACTGTGCTGAGGCAACTGTTTTCTTCCCCAGCTGTACCTGACTGGAGGAGTCTGGAGTCTAGACGGCTCAGCATACAAGAGACCATGCAGGCTACCATCCATGTCCCTGCCCAGGTACCAAAGCTGGAGGGCGAGGGGGTAATAAACAAGAGTGCATATAATCTCTTGTTCTCACCAAATCCCACCTCCTTCCCTCATACAGCATGAAGATGGCCCTGAGGATGACCCACAGTTGGTAGGCATCACTGCTCGTAACATTCCACGAGGGCCCCAGTTGGCTGCCCAGAACTTGGGCATCAGCCTGGCCAACTTGTTGCTGAGCAAAGGAGCCAAAAACATCCTGGATGTTGCACGGCAGCTTAACGATGCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCTACATCCCGGGCCTCAGTGCCCCATTCTCACTGCTATCTGGGGAGTGATTACCCCGGGAGACTGAACTGCAGGGTTCAAGCCTTCCAGGGATTTGCCTCACCTTGGGGCCTTGATGACTGCCTTGCCTCCTCAGTATGTGGGGGCTTCATCTCTTTAGAGAAGTCCAAGCAACAGCCTTTGAATGTAACCAATCCTACTAATAAACCAGTTCTGAAGGTGTTGTGTGTGCGCGTGTGGAGTTGGCGGGAAGATAGGAACAAACACAAAGCCCTTTCATCCTTACCTCAGAGGCTGGGACTTTTGCCCAGAGTTCTCCTGGTACGTCCTTTCTGCTTCTGCCTCAATAGTTTTCATTTCACACAGAATAAATTGTCTCCCAGGAACACCAAGAAACAGAGCCACAATCTTAAATTCCTATGGTTTGCCCCTTCAGTTAACAGTAGAGCCTGTTTATATTGCATGGCCCCTCCCACCCCTATTATCAGGAAAGTATAGAAAGTCACTAATTCTACAACTCTCTTGCAAAATGAAAACAAACGCTCCATTTAAAAAAAAAACAATCCTTTAATAAAATTAGTCCATCTAAAACTCCCCAATGCCTAAGGTTCTAGTCGTGGAAGGGTTAGCTGCAGAATTCCAGTTCAGAAGCCAACGGAGGCTCAGTCCAGACAGGGATTAACCGACTTGTGCTGGTATCTAGGTGCTTGGATTGCCGAGTTGAGTTTGCTGGAAGGGAAATGGGGCGGCGTCGGGGGGCCCGACAGGCCTGGCTGCCAGTCGGCTTCCGCGAAAACGACTCTTGCTGTCCACATAGCCAGCCGTGAAGCCAAACTGCAGGCCTCTGCCCTCCCCTAAATGTCCTCCTAGGAGGCAGTCACTCGGGAGGAAGATGTGCCTGTTACCAAGTGCTTCGTCCCGGCCCCAGCGCAGACCTATGAATGAAGATGGAGGGAGAGCTGATGTGAAAGGCCTGGGTCCCGGCCGCAGAAGGGGCGCCAGACCGAAATCGGCGATCGCGTCTCTCCCACCAAAGCCTCCCGGCCAGCGGCCGCGTCTGAAAGTCCTGGGCTAAGCACCACGCCGGGGGGGTACCAGACACCCCGGCTGCAGCTGCCGAGGGCCTCACTCACCTTCAGGGCCGCCGGCCTCTCGGCCTGGACTGCCCACCTCGGCCCTGCGTCAGAGCGGAAGGCCAAGTCTTCCAGAAGGTGCTGCGGCCTCCCCGCAGCCCCTTAGCGACTCGGGATGGGGCGGCTGAGTCACGAACGCCGAGGCGGGCAGGTGCGGCGCCGCCGGCCTCCCCCCGGCAGGCTCGGGTCTTCCGCGCCACGGAGGTCCCCGAAGAGCGCCCAAGCCGCATCCGGAAGGCCCGAACCCTACCGGAGGGCGGACGGCGGACAGGGCAGGGCCCGAGGCCGACGCGGCAGGCGGTGCGGGACGGGAGCGGGGGCGGGCGGGGACTCGAGGCCGGGCGGCGAAGGCGGGCGAGGGGAGGGGAGGGGAAGGGAGCCGCGGCCCGCTTGCCCCGCAGTCTGAAGCGGCTCAGCTCTTTCCATGAGGGCGGTGGTGGCCCTTAAAAGGGCCTTTGTGGTGGCATGGGGAGGCCTGGCGGCCGGCCGCGGCGCGGGCCCTCTTAGTACTCCTGGGAGGCCTGGGTGGCCTTCTTGCCGCCCGAGGGCGCCTTCGGCCCNNNN | pathogenic | 189,091 |
Assess the variant on chromosome 11, position 119093134, impacting HMBS (hydroxymethylbilane synthase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic | CAGGGAAGGTTTCTCAGAGGTCTTGTAACCTTGGCAAGTTATTTAGCCTCCCTATGTCATTTTCCTTATCTGTAAAGTGGGGATAATAATACTACCTTCCTCACAGGGTTGTTGTGAAGATGAAATGAGCTGACATATGGAAAGTACTTTTAGAGCAGTGTCTGGCATGTAGTAAGTATGATGTAACTGTTAGCTGTTAACATTAAGCTGAGAGCTGGAAGATGACTGAAAGTCAGCCAGCTAGAGAGGGAAAGACAGACTCAGGCAGAGGGAACCGCACGAGGCCCCAGATTGCCCGACACTGTGGTCCTTAGCAACTCTCCACAGCGGGGAAACCTCAACACCCGGCTTCGGAAGCTGGACGAGCAGCAGGAGTTCAGTGCCATCATCCTGGCAACAGCTGGCCTGCAGCGCATGGGCTGGCACAACCGGGTGGGGCAGGTAGGGCCTGCCCCTATCCTCTCCCCAGCTCATCTGCATCTCCTTTCTGCCTTACAGTCATCCCCAATTTAGGATTTTTAGACTTTATGATTGTGTGAAAGCGATATACGTTCAGTAGAAACTGTACTTAGTACCCATACAGCCATTCTGTTTTTTACTTTCAGTACAGTATTCATTACATGAGATATTCACTTTATTGTAAAACAGGCTTGGTGTCAGATGATTTTGTCCAACTATAATAGGCTAATCTTAAGTGTTCTGAGCACATGTAAGGTAGGCTAGGTGTATTAAATGCATTTTCAGCTTGTTTTCAACTTAACAATGGGTTTATCAGGATGTAACCCTATTGTAAGTCAAGGACCATCTGTCTTCACTTCTTGACCACCCCACCTCTAACACCGTAGGCTGGGAAGATTGTGAATCAGAGGCCAGACTCTAGGCTTTCATGGAGAAAATTTACAAAAAAAAAAAAAAAGAGGCCAGACTCACACTTAGGCCTACCCAGGCTTTCTAGATGATAGGGAACTCCCATCTCACTGCCAGGTGCTTTTAGACACCCCCGTGTCCACCCTTTTGACTCCCTGTTCCGCCTCCACAGATCCTGCACCCTGAGGAATGCATGTATGCTGTGGGCCAGGTACACTTGACCAGGGAAGCCACATGGTGACATATGCCTTCCCTTTGTTCTCAACCAAGAAGCTTGTCTCACAACCTTCTGCATCTGCTTCCCCAGAATAGCATTCTCAGGGAGGGGCAGACCTTGGGATGCTACCGGTCCAAAAGGCGCTGGGGAGCAAGTAGATAGAGGTGGTCCCATGCTTTGCGCCATTGGTTGGGGAAAGATCAGGCCTGATGTCCTAGGATGTTTTTCCATCAGGGGGCCTTGGGCGTGGAAGTGCGAGCCAAGGACCAGGACATCTTGGATCTGGTGGGTGTGCTGCACGATCCCGAGACTCTGCTTCGCTGCATCGCTGAAAGGGCCTTCCTGAGGCACCTGGTAGGGCCTGTGCTCCACCTGTGGAGGGCTGGGGACTTGGAGAGCTGGGAAAGGTGGCAGGGAAGATTTCTTACATGAATGCTCTGTATACAGTGCTAACTCATTCTTGTTGAATGTTGTGTATGGATAGGACCAGGTCTGGGCCCACAGTTGCCTTTTCAGTGATGTCCTCAGGTCTGTGGTCACAGGGTGGTGTTAAGAGCCCTTGCAGCTCACAAGAACTTCTTGTTACAGGAAGGAGGCTGCAGTGTGCCAGTAGCCGTGCATACAGCTATGAAGGATGGGCAAGTAAGTGGGGGGAAATGGGCGGGAAGCCAGGGAAAGGAGGACTGTGGCATTTCTTCCTGTGCATCCCAGGTTTCTAGGTAGTCCCCTCTCAGACTGTGCTGAGGCAACTGTTTTCTTCCCCAGCTGTACCTGACTGGAGGAGTCTGGAGTCTAGACGGCTCAGATAGCATACAAGAGACCATGCAGGCTACCATCCATGTCCCTGCCCAGGTACCAAAGCTGGAGGGCGAGGGGGTAATAAACAAGAGTGCATATAATCTCTTGTTCTCACCAAATCCCACCTCCTTCCCTCATACAGCATGAAGATGGCCCTGAGGATGACCCACAGTTGGTAGGCATCACTGCTCGTAACATTCCACGAGGGCCCCAGTTGGCTGCCCAGAACTTGGGCATCAGCCTGGCCAACTTGTTGCTGAGCAAAGGAGCCAAAAACATCCTGGATGTTGCACGGCAGCTTAACGATGCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCTACATCCCGGGCCTCAGTGCCCCATTCTCACTGCTATCTGGGGAGTGATTACCCCGGGAGACTGAACTGCAGGGTTCAAGCCTTCCAGGGATTTGCCTCACCTTGGGGCCTTGATGACTGCCTTGCCTCCTCAGTATGTGGGGGCTTCATCTCTTTAGAGAAGTCCAAGCAACAGCCTTTGAATGTAACCAATCCTACTAATAAACCAGTTCTGAAGGTGTTGTGTGTGCGCGTGTGGAGTTGGCGGGAAGATAGGAACAAACACAAAGCCCTTTCATCCTTACCTCAGAGGCTGGGACTTTTGCCCAGAGTTCTCCTGGTACGTCCTTTCTGCTTCTGCCTCAATAGTTTTCATTTCACACAGAATAAATTGTCTCCCAGGAACACCAAGAAACAGAGCCACAATCTTAAATTCCTATGGTTTGCCCCTTCAGTTAACAGTAGAGCCTGTTTATATTGCATGGCCCCTCCCACCCCTATTATCAGGAAAGTATAGAAAGTCACTAATTCTACAACTCTCTTGCAAAATGAAAACAAACGCTCCATTTAAAAAAAAAACAATCCTTTAATAAAATTAGTCCATCTAAAACTCCCCAATGCCTAAGGTTCTAGTCGTGGAAGGGTTAGCTGCAGAATTCCAGTTCAGAAGCCAACGGAGGCTCAGTCCAGACAGGGATTAACCGACTTGTGCTGGTATCTAGGTGCTTGGATTGCCGAGTTGAGTTTGCTGGAAGGGAAATGGGGCGGCGTCGGGGGGCCCGACAGGCCTGGCTGCCAGTCGGCTTCCGCGAAAACGACTCTTGCTGTCCACATAGCCAGCCGTGAAGCCAAACTGCAGGCCTCTGCCCTCCCCTAAATGTCCTCCTAGGAGGCAGTCACTCGGGAGGAAGATGTGCCTGTTACCAAGTGCTTCGTCCCGGCCCCAGCGCAGACCTATGAATGAAGATGGAGGGAGAGCTGATGTGAAAGGCCTGGGTCCCGGCCGCAGAAGGGGCGCCAGACCGAAATCGGCGATCGCGTCTCTCCCACCAAAGCCTCCCGGCCAGCGGCCGCGTCTGAAAGTCCTGGGCTAAGCACCACGCCGGGGGGGTACCAGACACCCCGGCTGCAGCTGCCGAGGGCCTCACTCACCTTCAGGGCCGCCGGCCTCTCGGCCTGGACTGCCCACCTCGGCCCTGCGTCAGAGCGGAAGGCCAAGTCTTCCAGAAGGTGCTGCGGCCTCCCCGCAGCCCCTTAGCGACTCGGGATGGGGCGGCTGAGTCACGAACGCCGAGGCGGGCAGGTGCGGCGCCGCCGGCCTCCCCCCGGCAGGCTCGGGTCTTCCGCGCCACGGAGGTCCCCGAAGAGCGCCCAAGCCGCATCCGGAAGGCCCGAACCCTACCGGAGGGCGGACGGCGGACAGGGCAGGGCCCGAGGCCGACGCGGCAGGCGGTGCGGGACGGGAGCGGGGGCGGGCGGGGACTCGAGGCCGGGCGGCGAAGGCGGGCGAGGGGAGGGGAGGGGAAGGGAGCCGCGGCCCGCTTGCCCCGCAGTCTGAAGCGGCTCAGCTCTTTCCATGAGGGCGGTGGTGGCCCTTAAAAGGGCCTTTGTGGTGGCATGGGGAGGCCTGGCGGCCGGCCGCGGCGCGGGCCCTCTTAGTACTCCTGGGAGGCCTGGGTGGCCTTCTTGCCGCCCGAGGGCGCCTTCGGCCCCACGGTGGCGCTGGTCTTCTTGGGCAGCAGCACGGCCTGGATGTTGGGCAGGACGCCTCCCTGGGCGATCGTCACGCCGCCCAGCAGCTTGTTGAGCTCCTCGTCGTTGCGGATGGCCAGCTGCAGGTGGCGGGGGATGATTCGCGTCTTCTTGTTGTCGCG | CAGGGAAGGTTTCTCAGAGGTCTTGTAACCTTGGCAAGTTATTTAGCCTCCCTATGTCATTTTCCTTATCTGTAAAGTGGGGATAATAATACTACCTTCCTCACAGGGTTGTTGTGAAGATGAAATGAGCTGACATATGGAAAGTACTTTTAGAGCAGTGTCTGGCATGTAGTAAGTATGATGTAACTGTTAGCTGTTAACATTAAGCTGAGAGCTGGAAGATGACTGAAAGTCAGCCAGCTAGAGAGGGAAAGACAGACTCAGGCAGAGGGAACCGCACGAGGCCCCAGATTGCCCGACACTGTGGTCCTTAGCAACTCTCCACAGCGGGGAAACCTCAACACCCGGCTTCGGAAGCTGGACGAGCAGCAGGAGTTCAGTGCCATCATCCTGGCAACAGCTGGCCTGCAGCGCATGGGCTGGCACAACCGGGTGGGGCAGGTAGGGCCTGCCCCTATCCTCTCCCCAGCTCATCTGCATCTCCTTTCTGCCTTACAGTCATCCCCAATTTAGGATTTTTAGACTTTATGATTGTGTGAAAGCGATATACGTTCAGTAGAAACTGTACTTAGTACCCATACAGCCATTCTGTTTTTTACTTTCAGTACAGTATTCATTACATGAGATATTCACTTTATTGTAAAACAGGCTTGGTGTCAGATGATTTTGTCCAACTATAATAGGCTAATCTTAAGTGTTCTGAGCACATGTAAGGTAGGCTAGGTGTATTAAATGCATTTTCAGCTTGTTTTCAACTTAACAATGGGTTTATCAGGATGTAACCCTATTGTAAGTCAAGGACCATCTGTCTTCACTTCTTGACCACCCCACCTCTAACACCGTAGGCTGGGAAGATTGTGAATCAGAGGCCAGACTCTAGGCTTTCATGGAGAAAATTTACAAAAAAAAAAAAAAAGAGGCCAGACTCACACTTAGGCCTACCCAGGCTTTCTAGATGATAGGGAACTCCCATCTCACTGCCAGGTGCTTTTAGACACCCCCGTGTCCACCCTTTTGACTCCCTGTTCCGCCTCCACAGATCCTGCACCCTGAGGAATGCATGTATGCTGTGGGCCAGGTACACTTGACCAGGGAAGCCACATGGTGACATATGCCTTCCCTTTGTTCTCAACCAAGAAGCTTGTCTCACAACCTTCTGCATCTGCTTCCCCAGAATAGCATTCTCAGGGAGGGGCAGACCTTGGGATGCTACCGGTCCAAAAGGCGCTGGGGAGCAAGTAGATAGAGGTGGTCCCATGCTTTGCGCCATTGGTTGGGGAAAGATCAGGCCTGATGTCCTAGGATGTTTTTCCATCAGGGGGCCTTGGGCGTGGAAGTGCGAGCCAAGGACCAGGACATCTTGGATCTGGTGGGTGTGCTGCACGATCCCGAGACTCTGCTTCGCTGCATCGCTGAAAGGGCCTTCCTGAGGCACCTGGTAGGGCCTGTGCTCCACCTGTGGAGGGCTGGGGACTTGGAGAGCTGGGAAAGGTGGCAGGGAAGATTTCTTACATGAATGCTCTGTATACAGTGCTAACTCATTCTTGTTGAATGTTGTGTATGGATAGGACCAGGTCTGGGCCCACAGTTGCCTTTTCAGTGATGTCCTCAGGTCTGTGGTCACAGGGTGGTGTTAAGAGCCCTTGCAGCTCACAAGAACTTCTTGTTACAGGAAGGAGGCTGCAGTGTGCCAGTAGCCGTGCATACAGCTATGAAGGATGGGCAAGTAAGTGGGGGGAAATGGGCGGGAAGCCAGGGAAAGGAGGACTGTGGCATTTCTTCCTGTGCATCCCAGGTTTCTAGGTAGTCCCCTCTCAGACTGTGCTGAGGCAACTGTTTTCTTCCCCAGCTGTACCTGACTGGAGGAGTCTGGAGTCTAGACGGCTCAGATAGCATACAAGAGACCATGCAGGCTACCATCCATGTCCCTGCCCAGGTACCAAAGCTGGAGGGCGAGGGGGTAATAAACAAGAGTGCATATAATCTCTTGTTCTCACCAAATCCCACCTCCTTCCCTCATACAGCATGAAGATGGCCCTGAGGATGACCCAGTTGGTAGGCATCACTGCTCGTAACATTCCACGAGGGCCCCAGTTGGCTGCCCAGAACTTGGGCATCAGCCTGGCCAACTTGTTGCTGAGCAAAGGAGCCAAAAACATCCTGGATGTTGCACGGCAGCTTAACGATGCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCTACATCCCGGGCCTCAGTGCCCCATTCTCACTGCTATCTGGGGAGTGATTACCCCGGGAGACTGAACTGCAGGGTTCAAGCCTTCCAGGGATTTGCCTCACCTTGGGGCCTTGATGACTGCCTTGCCTCCTCAGTATGTGGGGGCTTCATCTCTTTAGAGAAGTCCAAGCAACAGCCTTTGAATGTAACCAATCCTACTAATAAACCAGTTCTGAAGGTGTTGTGTGTGCGCGTGTGGAGTTGGCGGGAAGATAGGAACAAACACAAAGCCCTTTCATCCTTACCTCAGAGGCTGGGACTTTTGCCCAGAGTTCTCCTGGTACGTCCTTTCTGCTTCTGCCTCAATAGTTTTCATTTCACACAGAATAAATTGTCTCCCAGGAACACCAAGAAACAGAGCCACAATCTTAAATTCCTATGGTTTGCCCCTTCAGTTAACAGTAGAGCCTGTTTATATTGCATGGCCCCTCCCACCCCTATTATCAGGAAAGTATAGAAAGTCACTAATTCTACAACTCTCTTGCAAAATGAAAACAAACGCTCCATTTAAAAAAAAAACAATCCTTTAATAAAATTAGTCCATCTAAAACTCCCCAATGCCTAAGGTTCTAGTCGTGGAAGGGTTAGCTGCAGAATTCCAGTTCAGAAGCCAACGGAGGCTCAGTCCAGACAGGGATTAACCGACTTGTGCTGGTATCTAGGTGCTTGGATTGCCGAGTTGAGTTTGCTGGAAGGGAAATGGGGCGGCGTCGGGGGGCCCGACAGGCCTGGCTGCCAGTCGGCTTCCGCGAAAACGACTCTTGCTGTCCACATAGCCAGCCGTGAAGCCAAACTGCAGGCCTCTGCCCTCCCCTAAATGTCCTCCTAGGAGGCAGTCACTCGGGAGGAAGATGTGCCTGTTACCAAGTGCTTCGTCCCGGCCCCAGCGCAGACCTATGAATGAAGATGGAGGGAGAGCTGATGTGAAAGGCCTGGGTCCCGGCCGCAGAAGGGGCGCCAGACCGAAATCGGCGATCGCGTCTCTCCCACCAAAGCCTCCCGGCCAGCGGCCGCGTCTGAAAGTCCTGGGCTAAGCACCACGCCGGGGGGGTACCAGACACCCCGGCTGCAGCTGCCGAGGGCCTCACTCACCTTCAGGGCCGCCGGCCTCTCGGCCTGGACTGCCCACCTCGGCCCTGCGTCAGAGCGGAAGGCCAAGTCTTCCAGAAGGTGCTGCGGCCTCCCCGCAGCCCCTTAGCGACTCGGGATGGGGCGGCTGAGTCACGAACGCCGAGGCGGGCAGGTGCGGCGCCGCCGGCCTCCCCCCGGCAGGCTCGGGTCTTCCGCGCCACGGAGGTCCCCGAAGAGCGCCCAAGCCGCATCCGGAAGGCCCGAACCCTACCGGAGGGCGGACGGCGGACAGGGCAGGGCCCGAGGCCGACGCGGCAGGCGGTGCGGGACGGGAGCGGGGGCGGGCGGGGACTCGAGGCCGGGCGGCGAAGGCGGGCGAGGGGAGGGGAGGGGAAGGGAGCCGCGGCCCGCTTGCCCCGCAGTCTGAAGCGGCTCAGCTCTTTCCATGAGGGCGGTGGTGGCCCTTAAAAGGGCCTTTGTGGTGGCATGGGGAGGCCTGGCGGCCGGCCGCGGCGCGGGCCCTCTTAGTACTCCTGGGAGGCCTGGGTGGCCTTCTTGCCGCCCGAGGGCGCCTTCGGCCCCACGGTGGCGCTGGTCTTCTTGGGCAGCAGCACGGCCTGGATGTTGGGCAGGACGCCTCCCTGGGCGATCGTCACGCCGCCCAGCAGCTTGTTGAGCTCCTCGTCGTTGCGGATGGCCAGCTGCAGGTGGCGGGGGATGATTCGCGTCTTCTTGTTGTCGCGNN | pathogenic | 189,094 |
Does the variant impacting DPAGT1 (dolichyl-phosphate N-acetylglucosaminephosphotransferase 1) on chromosome 11, position 119098501, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CCACCCCTCCCAATCTACCCAAAAATGCCCATATAGGAAATATACCTACATAAACAATAAGAAAAAGACAACACTTTATTGTCTCCATTGAGAGCATGTGGCCCCCTGCTTAGTTCTTACTAATCAGAACACTTAATTTACAATCAAATGACATGTCACCGTGGAGCCTGTGTTCCTAGCCCTGGCCCAAGTTCTATCCCAAAAACCAGTGGTTCCTTGAGAGTCAGGACTCTGAAATGTGAGTGTGGATAACTGCAAAAAAAGCTGCTGTATCCCACCCTATGAGGCTGCAAAGATGGGATGGAGAGGGAGAGAGTAGCAAGTTGCAGAAAGCCATAGGTAAAATCCAATCAGTAGTCAGCAGAGGGCAAGAAACGCCCAGGATGCCAATGATCACAGAGAAAGGAAAATGCTGAGAACAAAATCTGGAGGAGTATGAAGAGTGAGAGAGGCCTGGGCAAGGAGGCAGTCTGGGACCAGAGAGAGAGGTCAGCCTGAGTCAGGAATCCTAGAGACTGTGAGGTAAAGGACAATGATCAAGGGACTCAGACATCATAGAAGAGTCGAACGAGCTGATATCGAATGGAGAAGGTGATGGCACTGCCCAGGATCTGCAAGGAGAAATGGACTGGAGTAAGAATCACGCAGAAAGGGAGACACGGAGGTATAAACTCGATTCCCATCCTCACCTGCAGCAGCAGCAGGAGCAATGTGAGGTTTCTCTCATGTATGGGCCCAAGGACTTTAAGTAGCAAGTTGATGAGGGTCATGTTGTTACATTCAGTGAATTCACCATCTTCAGTCTCACTCTGGTGTACTGTCACCAGCTGGAGGCTCTCTGCCACCTGGAGGGACCAGAGGTGAAGAGAACCTCAGCTAATACCTATGCTTTAGGAATGTGGATCTATTTAATGCTTTCAAGTTCCCCTTGGATCTGATGTAGGACTAGGTTCCCCATTCCTCAAGGTCAGGATGGCAGCCTAGGGCCTTACCTCCTTGTTACCCTGTTACCTTTAAAATAAAGGTGCCCAAGAAAGAGAGGCTCTTGGTCTTGAACTTGGAATAGCTCATCTCCAGTTTGCCTGTCTTGATATTGAGTCTGCGGGGGGAAGATAGCTTCATGTGACTGGGCCACTATTTGAACCCTCCTCCCTGTGGCTAATAGGAAGAGCATTGAATGTGGAGTCAACCTGAGATCTATTTCTGGCTCTGCTGCTTACTGTTATCAGAACCACTGTAGCAGATTATGCAAATAAATGTGCTTTGTAAGTTATAAAGGGCTACTCACATGGAAATAGCCCTTCTTTGGGCCCACTCCCTTTGCACAGCAAATGTATAGGCTGGCATTAGATATCCCAAGTGAAAAGGCTATGATGTCCATTTCAAGCCAAAAAGCGGCTACCTGGGTATGCGGTGGCGAGGGCAGGGGATGATATGCAGGAGCTGAGGCAGTGAGTAGAGGAAGTTGAACACCTGGGGCATGAAGAATAGTAGCATGGTCTTGCTGAAGTGTCCCAAGATGCCCACCACGGCAAAGGTCATGCCAGCAAAGTAACAGAAGGTATCTCCCACAAACACCCGTGATGGGTACCTGTGTGGGGGAAGAGGATCCGAGCCAGTGGCAAGAGGCATTACCAATCCCTTCTCTCACATCACACCCTATGGGCACTGGACTAGCCCTGACCCTAGTTCTGACTCAGAGGAGACTCCAGTTGTGCAGCAACTCTGCAGGATCCAAGGCCCTGAATTCATCTATTCCTGGGGCCTCCACGCACTCATCCCTAACTACTACTGGGTAGAGAGAAATTTCAGAATACGACCAACTGAAGACGCAGAAAACTCCATAGAGGTATGCGCAGGTTTAGCTTCACCACCACAAGGTGGGTTATGATAAGGGCCATCTTTGCCATGTGTTCAGGTAGTTGTCCCCTTATCCACAGGCCTACTTACCAGTTGTGGTAGAGCAATCCCAAAGTGGTGAAAAAAAAGGGTATCATGAAGTAGAGGGAAAAGACATGATCATCCCGACAATCACCTTTGGAAGCAAGGAAGAAAGAAGGAAAAGTTAATACCCACTTCCTCTGCAAACCTTGGTCCTATTTTTGTCTAAGTTCTGTTTACAGCTGTTATCATCCACCTCACCCAAGTCACTTTTAAGAACTCAATACTCCTTTTATGTCACCCAAGGCAATTCCCAATATTCCACCTCTTTCGTGCAGCCTTCCAAACTAGTTACTATCTTAAATTTGGTTTAGCCCATTCTGATGTAAGTTTGGATACCAACTTTACTTCTTAGCTTTGTGACCTTGATCTTGATCATGACACATTTAACTTCTCTAAGCCTGTTTTCTCATCTGTAAAACAGGGCTGATTATAACATCTGCCACATAAAACCATTACAAGATTTAAATAAGATAGTGTTTAAAAAGTACTTAGCTTTAATAAACACTTGTTGATGTTCATCAGCCAAAGACCATCAGAAACACATCTATAGTTCAAAGCTAGGTTTAATGACTTGTTGTAAAAAGGGAGACTTCAGAAACCACACACCATTGGGAACCACGGAATGTCTCAGTAAGAGGGTGTTAGGAGGGGCTTGTAGTAGCGTTTGTTTTGGGTATTTTGGGAGAGGGTGAAAGAAAGTAGTTTTGCTCTGGACTGGGTGCTGTTAGAAAGCAGGAGTAATTCATGGCCGGGTGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAGAAATACAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCGCACCATTGTACTCCAGCCTGGGCAAGAACAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAGCAAGAGTAATTCTATGATCAAGCATTTTAATGTTTATTTAAGAAATGGTAGGAACTGGCTGGGCACAGTGGCTCAAGAGTGTAATCCCAGCACTTTGGGAGGCCTGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTAGGCAACATGGTGAAACCCTGTCTCTACAAAAAATACAAAAATTTGCCAGGTGTGGTGGCACATGCCTGTAGCCCCAGCTACTTGGGAGGCTGGGGCAGGAGGATCGTTTGAGTCAGAGGATGCAGTGAGCTAAGATCGCGCCACTGCTCTCCAGCCTGCATGACAGAGGGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTGGTAGGAACTGAGTTGTTATTGGAGAGCAGCAGCAGTCGCTCATGTTAGCCGAGAGAGGGGATCTTGGCCATTTTGTGGGTTGCTCAGTGTTCTTGTGGTTTTGCCTGTGCTCAAACATGATTACAGAGGGAGGGGTCTAGTTTTAGTCTTGCTCCATCACGGTCACAGAATGACCCTGTGTAACGTTGGGGTTCTGTGAAACTGTTTATATTCAATGGGAGAAGATCATGGCCTAGCTATTAGTGCCAATCCAGCTATAAATGACAGGGCTACTATTTTTCTTTCTCACTTTTAATAAATCTGCATTGTTATTTGCAAAGTAAGTAGCTTCCCTTATCTTCTATAATTACTATGCATATTGCTTTTTTCCCCTGAATTTCCCAAAGTCATATATCAGGCCACACCTTTAACACTCAGACTTCTCTCTCCCCACCCCCAATCCCACCTACCTTCCAACTCTACCAGGTTGAAGACAATGATGGAAGCAGAAATGACTAGTGACTGGCCAGCCTCTAGGCCGTTAATTCCTGCTAGGATATTGATGGCATTGGTACAGAACACTGCCAGCAGCCCCATGTAGACATAGTACAGGATTCCTGCGGGGAGAGATGGTAGGAAAAGAAGTAGTGCCACCTAGGGGAGGAGGATTTAAGAATTTTTAGAAAAGTGGTGAGGACGGACGATAGGATGAAGGGCTACCAGAAAGGATCTGGGAAGACACAGAGACAAAAAAGGA | CCACCCCTCCCAATCTACCCAAAAATGCCCATATAGGAAATATACCTACATAAACAATAAGAAAAAGACAACACTTTATTGTCTCCATTGAGAGCATGTGGCCCCCTGCTTAGTTCTTACTAATCAGAACACTTAATTTACAATCAAATGACATGTCACCGTGGAGCCTGTGTTCCTAGCCCTGGCCCAAGTTCTATCCCAAAAACCAGTGGTTCCTTGAGAGTCAGGACTCTGAAATGTGAGTGTGGATAACTGCAAAAAAAGCTGCTGTATCCCACCCTATGAGGCTGCAAAGATGGGATGGAGAGGGAGAGAGTAGCAAGTTGCAGAAAGCCATAGGTAAAATCCAATCAGTAGTCAGCAGAGGGCAAGAAACGCCCAGGATGCCAATGATCACAGAGAAAGGAAAATGCTGAGAACAAAATCTGGAGGAGTATGAAGAGTGAGAGAGGCCTGGGCAAGGAGGCAGTCTGGGACCAGAGAGAGAGGTCAGCCTGAGTCAGGAATCCTAGAGACTGTGAGGTAAAGGACAATGATCAAGGGACTCAGACATCATAGAAGAGTCGAACGAGCTGATATCGAATGGAGAAGGTGATGGCACTGCCCAGGATCTGCAAGGAGAAATGGACTGGAGTAAGAATCACGCAGAAAGGGAGACACGGAGGTATAAACTCGATTCCCATCCTCACCTGCAGCAGCAGCAGGAGCAATGTGAGGTTTCTCTCATGTATGGGCCCAAGGACTTTAAGTAGCAAGTTGATGAGGGTCATGTTGTTACATTCAGTGAATTCACCATCTTCAGTCTCACTCTGGTGTACTGTCACCAGCTGGAGGCTCTCTGCCACCTGGAGGGACCAGAGGTGAAGAGAACCTCAGCTAATACCTATGCTTTAGGAATGTGGATCTATTTAATGCTTTCAAGTTCCCCTTGGATCTGATGTAGGACTAGGTTCCCCATTCCTCAAGGTCAGGATGGCAGCCTAGGGCCTTACCTCCTTGTTACCCTGTTACCTTTAAAATAAAGGTGCCCAAGAAAGAGAGGCTCTTGGTCTTGAACTTGGAATAGCTCATCTCCAGTTTGCCTGTCTTGATATTGAGTCTGCGGGGGGAAGATAGCTTCATGTGACTGGGCCACTATTTGAACCCTCCTCCCTGTGGCTAATAGGAAGAGCATTGAATGTGGAGTCAACCTGAGATCTATTTCTGGCTCTGCTGCTTACTGTTATCAGAACCACTGTAGCAGATTATGCAAATAAATGTGCTTTGTAAGTTATAAAGGGCTACTCACATGGAAATAGCCCTTCTTTGGGCCCACTCCCTTTGCACAGCAAATGTATAGGCTGGCATTAGATATCCCAAGTGAAAAGGCTATGATGTCCATTTCAAGCCAAAAAGCGGCTACCTGGGTATGCGGTGGCGAGGGCAGGGGATGATATGCAGGAGCTGAGGCAGTGAGTAGAGGAAGTTGAACACCTGGGGCATGAAGAATAGTAGCATGGTCTTGCTGAAGTGTCCCAAGATGCCCACCACGGCAAAGGTCATGCCAGCAAAGTAACAGAAGGTATCTCCCACAAACACCCGTGATGGGTACCTGTGTGGGGGAAGAGGATCCGAGCCAGTGGCAAGAGGCATTACCAATCCCTTCTCTCACATCACACCCTATGGGCACTGGACTAGCCCTGACCCTAGTTCTGACTCAGAGGAGACTCCAGTTGTGCAGCAACTCTGCAGGATCCAAGGCCCTGAATTCATCTATTCCTGGGGCCTCCACGCACTCATCCCTAACTACTACTGGGTAGAGAGAAATTTCAGAATACGACCAACTGAAGACGCAGAAAACTCCATAGAGGTATGCGCAGGTTTAGCTTCACCACCACAAGGTGGGTTATGATAAGGGCCATCTTTGCCATGTGTTCAGGTAGTTGTCCCCTTATCCACAGGCCTACTTACCAGTTGTGGTAGAGCAATCCCAAAGTGGTGAAAAAAAAGGGTATCATGAAGTAGAGGGAAAAGACATGATCATCCCGACAATCACCTTTGGAAGCAAGGAAGAAGGAAAAGTTAATACCCACTTCCTCTGCAAACCTTGGTCCTATTTTTGTCTAAGTTCTGTTTACAGCTGTTATCATCCACCTCACCCAAGTCACTTTTAAGAACTCAATACTCCTTTTATGTCACCCAAGGCAATTCCCAATATTCCACCTCTTTCGTGCAGCCTTCCAAACTAGTTACTATCTTAAATTTGGTTTAGCCCATTCTGATGTAAGTTTGGATACCAACTTTACTTCTTAGCTTTGTGACCTTGATCTTGATCATGACACATTTAACTTCTCTAAGCCTGTTTTCTCATCTGTAAAACAGGGCTGATTATAACATCTGCCACATAAAACCATTACAAGATTTAAATAAGATAGTGTTTAAAAAGTACTTAGCTTTAATAAACACTTGTTGATGTTCATCAGCCAAAGACCATCAGAAACACATCTATAGTTCAAAGCTAGGTTTAATGACTTGTTGTAAAAAGGGAGACTTCAGAAACCACACACCATTGGGAACCACGGAATGTCTCAGTAAGAGGGTGTTAGGAGGGGCTTGTAGTAGCGTTTGTTTTGGGTATTTTGGGAGAGGGTGAAAGAAAGTAGTTTTGCTCTGGACTGGGTGCTGTTAGAAAGCAGGAGTAATTCATGGCCGGGTGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAGAAATACAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCGCACCATTGTACTCCAGCCTGGGCAAGAACAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAGCAAGAGTAATTCTATGATCAAGCATTTTAATGTTTATTTAAGAAATGGTAGGAACTGGCTGGGCACAGTGGCTCAAGAGTGTAATCCCAGCACTTTGGGAGGCCTGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTAGGCAACATGGTGAAACCCTGTCTCTACAAAAAATACAAAAATTTGCCAGGTGTGGTGGCACATGCCTGTAGCCCCAGCTACTTGGGAGGCTGGGGCAGGAGGATCGTTTGAGTCAGAGGATGCAGTGAGCTAAGATCGCGCCACTGCTCTCCAGCCTGCATGACAGAGGGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTGGTAGGAACTGAGTTGTTATTGGAGAGCAGCAGCAGTCGCTCATGTTAGCCGAGAGAGGGGATCTTGGCCATTTTGTGGGTTGCTCAGTGTTCTTGTGGTTTTGCCTGTGCTCAAACATGATTACAGAGGGAGGGGTCTAGTTTTAGTCTTGCTCCATCACGGTCACAGAATGACCCTGTGTAACGTTGGGGTTCTGTGAAACTGTTTATATTCAATGGGAGAAGATCATGGCCTAGCTATTAGTGCCAATCCAGCTATAAATGACAGGGCTACTATTTTTCTTTCTCACTTTTAATAAATCTGCATTGTTATTTGCAAAGTAAGTAGCTTCCCTTATCTTCTATAATTACTATGCATATTGCTTTTTTCCCCTGAATTTCCCAAAGTCATATATCAGGCCACACCTTTAACACTCAGACTTCTCTCTCCCCACCCCCAATCCCACCTACCTTCCAACTCTACCAGGTTGAAGACAATGATGGAAGCAGAAATGACTAGTGACTGGCCAGCCTCTAGGCCGTTAATTCCTGCTAGGATATTGATGGCATTGGTACAGAACACTGCCAGCAGCCCCATGTAGACATAGTACAGGATTCCTGCGGGGAGAGATGGTAGGAAAAGAAGTAGTGCCACCTAGGGGAGGAGGATTTAAGAATTTTTAGAAAAGTGGTGAGGACGGACGATAGGATGAAGGGCTACCAGAAAGGATCTGGGAAGACACAGAGACAAAAAAGGANNNN | benign | 189,109 |
Regarding the variant at chromosome 11 and position 119100730, affecting gene DPAGT1 (dolichyl-phosphate N-acetylglucosaminephosphotransferase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Congenital_disorder_of_glycosylation', 'Congenital_myasthenic_syndrome_13', 'DPAGT1-congenital_disorder_of_glycosylation', 'Inborn_genetic_diseases'] | TAGTTACTATCTTAAATTTGGTTTAGCCCATTCTGATGTAAGTTTGGATACCAACTTTACTTCTTAGCTTTGTGACCTTGATCTTGATCATGACACATTTAACTTCTCTAAGCCTGTTTTCTCATCTGTAAAACAGGGCTGATTATAACATCTGCCACATAAAACCATTACAAGATTTAAATAAGATAGTGTTTAAAAAGTACTTAGCTTTAATAAACACTTGTTGATGTTCATCAGCCAAAGACCATCAGAAACACATCTATAGTTCAAAGCTAGGTTTAATGACTTGTTGTAAAAAGGGAGACTTCAGAAACCACACACCATTGGGAACCACGGAATGTCTCAGTAAGAGGGTGTTAGGAGGGGCTTGTAGTAGCGTTTGTTTTGGGTATTTTGGGAGAGGGTGAAAGAAAGTAGTTTTGCTCTGGACTGGGTGCTGTTAGAAAGCAGGAGTAATTCATGGCCGGGTGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAGAAATACAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCGCACCATTGTACTCCAGCCTGGGCAAGAACAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAGCAAGAGTAATTCTATGATCAAGCATTTTAATGTTTATTTAAGAAATGGTAGGAACTGGCTGGGCACAGTGGCTCAAGAGTGTAATCCCAGCACTTTGGGAGGCCTGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTAGGCAACATGGTGAAACCCTGTCTCTACAAAAAATACAAAAATTTGCCAGGTGTGGTGGCACATGCCTGTAGCCCCAGCTACTTGGGAGGCTGGGGCAGGAGGATCGTTTGAGTCAGAGGATGCAGTGAGCTAAGATCGCGCCACTGCTCTCCAGCCTGCATGACAGAGGGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTGGTAGGAACTGAGTTGTTATTGGAGAGCAGCAGCAGTCGCTCATGTTAGCCGAGAGAGGGGATCTTGGCCATTTTGTGGGTTGCTCAGTGTTCTTGTGGTTTTGCCTGTGCTCAAACATGATTACAGAGGGAGGGGTCTAGTTTTAGTCTTGCTCCATCACGGTCACAGAATGACCCTGTGTAACGTTGGGGTTCTGTGAAACTGTTTATATTCAATGGGAGAAGATCATGGCCTAGCTATTAGTGCCAATCCAGCTATAAATGACAGGGCTACTATTTTTCTTTCTCACTTTTAATAAATCTGCATTGTTATTTGCAAAGTAAGTAGCTTCCCTTATCTTCTATAATTACTATGCATATTGCTTTTTTCCCCTGAATTTCCCAAAGTCATATATCAGGCCACACCTTTAACACTCAGACTTCTCTCTCCCCACCCCCAATCCCACCTACCTTCCAACTCTACCAGGTTGAAGACAATGATGGAAGCAGAAATGACTAGTGACTGGCCAGCCTCTAGGCCGTTAATTCCTGCTAGGATATTGATGGCATTGGTACAGAACACTGCCAGCAGCCCCATGTAGACATAGTACAGGATTCCTGCGGGGAGAGATGGTAGGAAAAGAAGTAGTGCCACCTAGGGGAGGAGGATTTAAGAATTTTTAGAAAAGTGGTGAGGACGGACGATAGGATGAAGGGCTACCAGAAAGGATCTGGGAAGACACAGAGACAAAAAAGGAACACTTGGAGGAGAATGTGGAGCACCAGGAAGGGTTCCCTGAAGTAGGTGCCATAGGGGCAGCAGTGGTAGGACTACCTACCCAAGTCCAGATGCAGGCCAAGTATCGGGCGGAAGGGCTTGGGCACCACAATGGTCGTGTTGCCAAAGTTGGTGAAATAGACCATGAGGAGAGGTAGTGAGGCAGCTGTAGGTAGCAGCAGCTTATGGCGCCAGCGCAGATTCAGTACATCATCCGCAAAGCCCAGGAAGATCATGCAGCAGATGGCAAGGAGGGCACCTATCAGGGCCACAAACTGGGGGAGGCTCGGGCAGGTCCATGACTCAAGCCTGCTCCCATTCCACCTTTTAAGAATTCCTGTCTTTTCTGATAATTTCTTAGCCCCTCCCCACAAGCCCAAATAACCCCAGTTCTCTCAGGTACCTCCCAGGTCCCAGCCACAGGCAATCACCCCCACGAACCCACTTACTTCATGGTGGGGGAATGCCTTACACTGCTCCTTCACAAAGCAGTTCAGGAAGGGGAAAGGGATGAAGCAGAAGAGGATGATAAGGAAAACAGCACCGCTGATCACTCCCTGGGATTCTGGGCTGTGGCCCAGCAGCAAGGGGGCGAGGGGGAAGAGGAAAGGGGGCGTGGTCACTCACTAGTGCAGGTGTTACAGTAACCCAAAGTGGTCTTCTCATTCCCGGTTTTTTATTCTGGTAAGTGGTGAGGGGGGCGGAGGGAGGAAAGCACCACTGCCAGAGTCCCAGATATACCCAAGGGTCCCTACCCATCCTTTCCCCAATGCGAGTAAGTTCTGCTCATCACCTCTCCGAGTTCCAGGCTGCCTGGGTTAGTTCTGAGTCTTCACGTGTGGTCAAGCACCCCGGTTCCCGCCCCTGCCCTAGCCACTCCTTCCTTAGCCCTTGCCCCCTGCCCGGACCCGTGTGCCGCTGCTCACATCTGCTGTCGGCTGGTTTTGTTGAGGTCCTGACCACAGAGGCGCGCAGCAATGAAGTGGCCCCGGAAGGCCGGGATGAGGGTGACTGTGGCCACAAATCCCAGCAGCGAGACGATCAAATTGATCAGCAGCGGCATGGGCAATTCCGAGAAGGCCCACATGGTGACCGGTCAGGGGCCCGGCTCCGCCGCCTCTTCAGGTAACGGGCAAGCTGAGCAGCAGTCCTGAGGCCTCAGCAGTATGGAGTGGCCGCTCCCCACAGGCAGGCTCTTCCCACACCAATCTGAGCAAAACCCAGCAACTCTGACTTGAGCCGCCGTCGGGACACCGGGGAACCTCTCTAAGGCAACCTATGTTCTGCCCCGCTGCACCCGCCTATCTACTGTTTCCGCCCGGATCTTGTTCGCTGAACAACCATTACTGCGGAAGGCGGCGGCCGCCATTTTTAATATGGGCATTAGAGGGTGGGGATGGAAGTGGAAGAGAAGTGTGATTCCAAATTTCATCCTATGTTCAAGAGTAGAATCACCGAGAGAGTACTGGAAACGCAATTAAAGAAAGGCAGCCAAGAACGGATACTTCCCTAACATTATGTTAAAGATGTACTACCCAGAGCGGAAATGCCAATTGCCCGGTTCCAAGATGAATGCCTCCTTGTACCACGTGTCTGACACCGCTCACATTCCGGTTCCACGTCAGTTTTAGCTCCGTCCGCCTCCATAGGTCAAGCTTAAAGGGCCCGTACCTCTCCCTTAATCTGGGATGCCTCCGGCTCCAGGAAGATGGCTATTGAAAGGCAGGGGGTGGGGAGGAGGGACGAGGGTGTGGAGACGCGCCTGTTTCTTGCAGGAAACCTGTTGCCAACATAGTCGGAAGCCAAGGTAAACACAACTCAGTTCCCGGAAACAAAGCTACGATTTGGAAGGATGGTGTAAATTCTAAAGCGTAGATCCTTGAAAAGCCCCTCCCACTCTGTTTTTCTTGTCCTCGATTCTGGTATTTTTTTCTCAGCATCCCACCCACCTTCTGCCCCAGCTGTAGCAGTTAGTTGCCCGGCAACCCAGCGCAGCACTTCACTGAGGGATTGGGAGTACCCTCAGGTCTTGGATTTAACTCGAGACTTCAGCTTGGCCGTGGATCACTGCATTGTACCTAGCTCCCACAAGGAGGAGATGGAGATTTCCAGGCTGAGGCTCTGGAAAGAGCTGAGGAGGGAGAGGAATCAGACCCACAACTGATTTCCTGTGAGTCTGAGGAACTCCCAGTCAGGTTTCTTCCTGTAG | TAGTTACTATCTTAAATTTGGTTTAGCCCATTCTGATGTAAGTTTGGATACCAACTTTACTTCTTAGCTTTGTGACCTTGATCTTGATCATGACACATTTAACTTCTCTAAGCCTGTTTTCTCATCTGTAAAACAGGGCTGATTATAACATCTGCCACATAAAACCATTACAAGATTTAAATAAGATAGTGTTTAAAAAGTACTTAGCTTTAATAAACACTTGTTGATGTTCATCAGCCAAAGACCATCAGAAACACATCTATAGTTCAAAGCTAGGTTTAATGACTTGTTGTAAAAAGGGAGACTTCAGAAACCACACACCATTGGGAACCACGGAATGTCTCAGTAAGAGGGTGTTAGGAGGGGCTTGTAGTAGCGTTTGTTTTGGGTATTTTGGGAGAGGGTGAAAGAAAGTAGTTTTGCTCTGGACTGGGTGCTGTTAGAAAGCAGGAGTAATTCATGGCCGGGTGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAGAAATACAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGATCGCACCATTGTACTCCAGCCTGGGCAAGAACAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAGCAAGAGTAATTCTATGATCAAGCATTTTAATGTTTATTTAAGAAATGGTAGGAACTGGCTGGGCACAGTGGCTCAAGAGTGTAATCCCAGCACTTTGGGAGGCCTGGCAGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTAGGCAACATGGTGAAACCCTGTCTCTACAAAAAATACAAAAATTTGCCAGGTGTGGTGGCACATGCCTGTAGCCCCAGCTACTTGGGAGGCTGGGGCAGGAGGATCGTTTGAGTCAGAGGATGCAGTGAGCTAAGATCGCGCCACTGCTCTCCAGCCTGCATGACAGAGGGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTGGTAGGAACTGAGTTGTTATTGGAGAGCAGCAGCAGTCGCTCATGTTAGCCGAGAGAGGGGATCTTGGCCATTTTGTGGGTTGCTCAGTGTTCTTGTGGTTTTGCCTGTGCTCAAACATGATTACAGAGGGAGGGGTCTAGTTTTAGTCTTGCTCCATCACGGTCACAGAATGACCCTGTGTAACGTTGGGGTTCTGTGAAACTGTTTATATTCAATGGGAGAAGATCATGGCCTAGCTATTAGTGCCAATCCAGCTATAAATGACAGGGCTACTATTTTTCTTTCTCACTTTTAATAAATCTGCATTGTTATTTGCAAAGTAAGTAGCTTCCCTTATCTTCTATAATTACTATGCATATTGCTTTTTTCCCCTGAATTTCCCAAAGTCATATATCAGGCCACACCTTTAACACTCAGACTTCTCTCTCCCCACCCCCAATCCCACCTACCTTCCAACTCTACCAGGTTGAAGACAATGATGGAAGCAGAAATGACTAGTGACTGGCCAGCCTCTAGGCCGTTAATTCCTGCTAGGATATTGATGGCATTGGTACAGAACACTGCCAGCAGCCCCATGTAGACATAGTACAGGATTCCTGCGGGGAGAGATGGTAGGAAAAGAAGTAGTGCCACCTAGGGGAGGAGGATTTAAGAATTTTTAGAAAAGTGGTGAGGACGGACGATAGGATGAAGGGCTACCAGAAAGGATCTGGGAAGACACAGAGACAAAAAAGGAACACTTGGAGGAGAATGTGGAGCACCAGGAAGGGTTCCCTGAAGTAGGTGCCATAGGGGCAGCAGTGGTAGGACTACCTACCCAAGTCCAGATGCAGGCCAAGTATCGGGCGGAAGGGCTTGGGCACCACAATGGTCGTGTTGCCAAAGTTGGTGAAATAGACCATGAGGAGAGGTAGTGAGGCAGCTGTAGGTAGCAGCAGCTGTAGGTAGCAGCAGCTTATGGCGCCAGCGCAGATTCAGTACATCATCCGCAAAGCCCAGGAAGATCATGCAGCAGATGGCAAGGAGGGCACCTATCAGGGCCACAAACTGGGGGAGGCTCGGGCAGGTCCATGACTCAAGCCTGCTCCCATTCCACCTTTTAAGAATTCCTGTCTTTTCTGATAATTTCTTAGCCCCTCCCCACAAGCCCAAATAACCCCAGTTCTCTCAGGTACCTCCCAGGTCCCAGCCACAGGCAATCACCCCCACGAACCCACTTACTTCATGGTGGGGGAATGCCTTACACTGCTCCTTCACAAAGCAGTTCAGGAAGGGGAAAGGGATGAAGCAGAAGAGGATGATAAGGAAAACAGCACCGCTGATCACTCCCTGGGATTCTGGGCTGTGGCCCAGCAGCAAGGGGGCGAGGGGGAAGAGGAAAGGGGGCGTGGTCACTCACTAGTGCAGGTGTTACAGTAACCCAAAGTGGTCTTCTCATTCCCGGTTTTTTATTCTGGTAAGTGGTGAGGGGGGCGGAGGGAGGAAAGCACCACTGCCAGAGTCCCAGATATACCCAAGGGTCCCTACCCATCCTTTCCCCAATGCGAGTAAGTTCTGCTCATCACCTCTCCGAGTTCCAGGCTGCCTGGGTTAGTTCTGAGTCTTCACGTGTGGTCAAGCACCCCGGTTCCCGCCCCTGCCCTAGCCACTCCTTCCTTAGCCCTTGCCCCCTGCCCGGACCCGTGTGCCGCTGCTCACATCTGCTGTCGGCTGGTTTTGTTGAGGTCCTGACCACAGAGGCGCGCAGCAATGAAGTGGCCCCGGAAGGCCGGGATGAGGGTGACTGTGGCCACAAATCCCAGCAGCGAGACGATCAAATTGATCAGCAGCGGCATGGGCAATTCCGAGAAGGCCCACATGGTGACCGGTCAGGGGCCCGGCTCCGCCGCCTCTTCAGGTAACGGGCAAGCTGAGCAGCAGTCCTGAGGCCTCAGCAGTATGGAGTGGCCGCTCCCCACAGGCAGGCTCTTCCCACACCAATCTGAGCAAAACCCAGCAACTCTGACTTGAGCCGCCGTCGGGACACCGGGGAACCTCTCTAAGGCAACCTATGTTCTGCCCCGCTGCACCCGCCTATCTACTGTTTCCGCCCGGATCTTGTTCGCTGAACAACCATTACTGCGGAAGGCGGCGGCCGCCATTTTTAATATGGGCATTAGAGGGTGGGGATGGAAGTGGAAGAGAAGTGTGATTCCAAATTTCATCCTATGTTCAAGAGTAGAATCACCGAGAGAGTACTGGAAACGCAATTAAAGAAAGGCAGCCAAGAACGGATACTTCCCTAACATTATGTTAAAGATGTACTACCCAGAGCGGAAATGCCAATTGCCCGGTTCCAAGATGAATGCCTCCTTGTACCACGTGTCTGACACCGCTCACATTCCGGTTCCACGTCAGTTTTAGCTCCGTCCGCCTCCATAGGTCAAGCTTAAAGGGCCCGTACCTCTCCCTTAATCTGGGATGCCTCCGGCTCCAGGAAGATGGCTATTGAAAGGCAGGGGGTGGGGAGGAGGGACGAGGGTGTGGAGACGCGCCTGTTTCTTGCAGGAAACCTGTTGCCAACATAGTCGGAAGCCAAGGTAAACACAACTCAGTTCCCGGAAACAAAGCTACGATTTGGAAGGATGGTGTAAATTCTAAAGCGTAGATCCTTGAAAAGCCCCTCCCACTCTGTTTTTCTTGTCCTCGATTCTGGTATTTTTTTCTCAGCATCCCACCCACCTTCTGCCCCAGCTGTAGCAGTTAGTTGCCCGGCAACCCAGCGCAGCACTTCACTGAGGGATTGGGAGTACCCTCAGGTCTTGGATTTAACTCGAGACTTCAGCTTGGCCGTGGATCACTGCATTGTACCTAGCTCCCACAAGGAGGAGATGGAGATTTCCAGGCTGAGGCTCTGGAAAGAGCTGAGGAGGGAGAGGAATCAGACCCACAACTGATTTCCTGTGAGTCTGAGGAACTCCCAGTC | pathogenic | 189,115 |
Mutation found at chromosome 11 position 119206522, gene CBL: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CCCAGCTACTCGGGGGGCAGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGACTCTGTCTCAAAATAAAATAAAATAAATAAATAAATAAAAAAGAAATAATTGTATTTGATGACTTGGTGAGTCAGCTAGCATAAGACATGTGTACCAGGGAGTAGTATAAAACTACAAGGTTGTTTAGCTTGGAGTTAGAGCAACTTGTCAATTTTATTCCCGAGGCAATGGGAGGTGTTTAAAGTTTTTTTGCGATGCTGTCTGAACTATACTTTAGGAAGCCTATGGTGGCAGGATGAATTGAAGGCACAGGAAAAGGTTTCAATATTCAATAGTCCAGGGAAAAGAAACGGAGGACCTGCAACTAGGTGTTGGCACTAAGGGATGGAGCTTTGCCTAGATTTTCCCTTTGTAGATTCTTCTCTTCCTGGATGGAAAATGATAAAAGGAAATTCTTCTGATAGTAAATTATAATGTTGACTCCAAAATCAATTCTAGATAAAGGCGATTAAATTGCAAACCCAGGATGCCTGTCTGAATGGTCCCTGCATTCAAAGATATTTTCCCCTTTACAGGAGCACCGGATAAATTTAACTCCCTAATCTGTCAAGGGCTTTGTGGAAGAGCCTGGAGGGGGATCGAAGGCGGAACTGATACTGACACACCTGGGTCTGCAAACTCCCAAAACTGAGGCTCAGAATTAGTAAATTAGGGCAGGGCACTTCCCTCTTTGGAAGGGAAGTTCCTATTTTCAAAGTTCTTCCAACGGAACTTTTACATTAGAGAAGTGTAATTGACTGAGAAGTGGAAGTGACCAGGAACAGCATTTCTGTTCCCTGGGCGGGAGAGAGAACCCCCTCGGGCGGAGCCAGCAGCAGGTCAGCTTCTGAGGGGGCCCTCATGCTGGCGGCGCCGACCTGTGGTGCAATGCTCTGAGTAGGAGAATCTTAAATACATGTTTGAGATTCAATTCCCAGAAACGTAACTAGTCTTCACAAGCCAAAAAAATAAAAATAAAAAATAAAAAAAGGAAGTGATTTCTTTTCAAGAGGTCAAAGGGCCTGGAAGAAGAGGTCCTGGCTTGAGTGTCTCAAGGCTTTCTGGGGCCTAATCCGGCTGGAATGGGCCGCAGCATTCATATTCCTGTCCTTGGTCGTGTCTTAATGAAGAATTGAAAATAATAAGGGGTGGAGAAATAACTTTCCTTTTTCTCCCACCATCCTCCCACAGTGTAAATAAACAAATAACTCTAAGCTCGATTTCCTCATTTGTCAGGGGTGGGGAAAGACTTGACATCAGGACTCTTCCATTCCATCGCCACCTGTCTTAATTTAAACATTCCCATGACCCACCCCAGAAGCGCCAACCTCCCGCCCACAAGGAGCATGGAAGTCTTGGTTTCTGGCTACTGCGCAGACTCCACCTTGGACCTACTCCCCAACCCCCCGCCGCTCCTTTCCCCGTTTCTCCAGCAGAGGGCGCAGGCCCAAAGGTTCCGCCGACCCCGCCCCAGCCTGGCCCCGCCCCGCCCCGGCGTAGGGGCGGGGAAGACGGGCACAGAAACCTGGCCGCGGCTTTCCGGGAGCTGTGGGCACGCGAGCTGCTCGAAGCCGGTGGCCCGGGGATCGTCGCTGCCCAGTCCGGCCGCGGCCGGCCGCTTCCCCGAGCTTACCAGTAAGCCGGTCCGCCTCCGGGACGCGCCCCGCCCGCCCCGGGCTCGCGCGCTCTGAAGGGGCGCGTCCCGCGCACTCCCGGCGCCGCCCACTCCCCTCCCCACGGCCGCTCCTCCCTCCGCCCGGATAGCCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCGGGAGAGGCCCCTCCTTCACGCCCTGCTTCTCTCCCTCGCTCGCAGTCGAGCCGAGCCGGCGGACCCGCCTGGGCTCCGACCCTGCCCAGGCCATGGCCGGCAACGTGAAGAAGAGCTCTGGGGCCGGGGGCGGCAGCGGCTCCGGGGGCTCGGGTTCGGGTGGCCTGATTGGGCTCATGAAGGACGCCTTCCAGCCGCACCACCACCACCACCACCACCTCAGCCCCCACCCGCCGGGGACGGTGGACAAGAAGATGGTGGAGAAGTGCTGGAAGCTCATGGACAAGGTGAAAGGCCGGCTGAGCGCCCGCTGTTGCAGGGTGGGCGTGGGCGGAGGGCCGCGGGGAGGGGAACGAGCGGACGGAGGAAGCGGGGGAGGGGACGGGTCTGGTGAAGCCGGGGAGGCGCGGAGCCGGGGTGACCGGCCGGGGGCGTGGGGGCAGGGACGAGGCCGGGAGGGTGGGGGGCGGCGTGGGGGAGGGGCTGCCGTTGGGAGTCGGGGAACGCTGGGGTGCCGCGTTTGGGGTAGCCAGACAAAGATGGAGTGGGGGCTGGGGCGAAGGTTAACTGGGAAGTCAGTGGGGCGGAAGTACAATGAGGGGTGCGGAGTTTGGGGCTCTGTGCAGGGTGTAGGGATGTAGGTCACGGAATTGGCCTGGGAGGTTAGCAGGGAGGGGGTGAGGAAGAGTGATGTACCGGCTGGGGCTCTTGGCTGGGTGAGATCTGACTAGGGAATTAGGTTCATGGGCTCTGACTGAGGAACCTGGCTGGGGTCAGGACAGCTCTCAGGGAAGCTGTGCTCTGGGTGAGAGTATAGTCCTTTCTCATTAAGATGTAACACGAAGATAAAAGACATATTGATGTTTAAGTGAGGCAAGGAAAGAACTTTCCTCCCCATCTAGCGCCGGCTCAAGTTTTTTGTTACCCTCAGAAACACTGGATGTGATCCATTGCTGGTGCTGAGATATGCACTGATTAAACCACAAGTTCTGGTTAGAACTATTATCTTCTGAAAGATGGACTGGCTGAGCCTGTTAAGCAGCAGCAGATTCTGACTTCTTAATAACTTCCTCCCTACTACATCGCTTGAGCTGGGTTCTTTTTTTCTGGTAACGGTTCTGACTCCTTATTACAGGTCCTGACTTTAAACTTGTTCGTTGAGCTTCTTTGATTACGCTTTTTTGTTTGTTTGCTTTTTGCAAGTGCGAACAAAAATAACTCCTTTATATTTAGCCACTAAGTTTGTCATTTGGGAGAATTTTACTTCCTTATAGTTGTGTCTATATGATGAAATGTAGTCAGTCTCAAGTATTTAACTGTTTAAGCAGTCGGACGCTTTGTCAGAATTCAATACGTTTTCTTGGTATTTTTCATATTCTTTAATTAATTACTTTGACAAAATTCATATTGCGTATGAAAAGTGATTAGAAGTATCTGGCACGTTTTAAGAGAATGGTGTTATTTCCTCCAGGGTAAAATTTGGTTTTCTTTGGTTCCTCCCTGGGCCTCGGTTCCTCTTCTGTAAAGTTCTTCATGGGTTGCTTTGGACTAGAAACCGCTAATAAAATGATTATGAAGCACTTAGCCAATGTAATGTGCAATTTAAATGCTTAATAAGTCCTGTGTGTGAATTAACACTCCAGTAGTGCATGCCAGTGGTTTCATAGCCACCTTTTTAGGGCTGGCTTTTCTCATGTTAAATAATTGGTATTGTAATTAATGACACAAGTATTCGTGTGTTGATTATATTGGTGGTGTAGTACTAATTTTATTGTTAGAAATTATAATAAAATCCTTACAGAAAGTTTAGGTGTGTAAAGGAAACTTTAAATGTGTCGACTCCTTTAAAAAAAACACATCGAAGATATTCAAATGCTAAAGTTTGTTAGTTTGCTTTTTAGGGATTTATCGTTAAGGACTACAAATTTTACTCTGGCATAGAAAAAATACTTTTCTAATGAGTGTCTCGTATCAGACATGTGGGTGCAGTACAATCAAAATTGTGTTGATTAGTGGCCTCTGCTTAAGAATAATCTGTTTACTAAAGAGTTTCTGTATTCTGTATTCTTTTTTTTTTTTTGAGACGGAGTTTTTCGCTCTTGTTACCCAGGCTGGAGTGCATGGTGCGATCTCGACTCACTGCAACCTCCGCCTCCTGGGTTCAAGACATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCGCGCCACCACGCCCAGCTAATTTTTTGTATTTT | CCCAGCTACTCGGGGGGCAGAAGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGACTCTGTCTCAAAATAAAATAAAATAAATAAATAAATAAAAAAGAAATAATTGTATTTGATGACTTGGTGAGTCAGCTAGCATAAGACATGTGTACCAGGGAGTAGTATAAAACTACAAGGTTGTTTAGCTTGGAGTTAGAGCAACTTGTCAATTTTATTCCCGAGGCAATGGGAGGTGTTTAAAGTTTTTTTGCGATGCTGTCTGAACTATACTTTAGGAAGCCTATGGTGGCAGGATGAATTGAAGGCACAGGAAAAGGTTTCAATATTCAATAGTCCAGGGAAAAGAAACGGAGGACCTGCAACTAGGTGTTGGCACTAAGGGATGGAGCTTTGCCTAGATTTTCCCTTTGTAGATTCTTCTCTTCCTGGATGGAAAATGATAAAAGGAAATTCTTCTGATAGTAAATTATAATGTTGACTCCAAAATCAATTCTAGATAAAGGCGATTAAATTGCAAACCCAGGATGCCTGTCTGAATGGTCCCTGCATTCAAAGATATTTTCCCCTTTACAGGAGCACCGGATAAATTTAACTCCCTAATCTGTCAAGGGCTTTGTGGAAGAGCCTGGAGGGGGATCGAAGGCGGAACTGATACTGACACACCTGGGTCTGCAAACTCCCAAAACTGAGGCTCAGAATTAGTAAATTAGGGCAGGGCACTTCCCTCTTTGGAAGGGAAGTTCCTATTTTCAAAGTTCTTCCAACGGAACTTTTACATTAGAGAAGTGTAATTGACTGAGAAGTGGAAGTGACCAGGAACAGCATTTCTGTTCCCTGGGCGGGAGAGAGAACCCCCTCGGGCGGAGCCAGCAGCAGGTCAGCTTCTGAGGGGGCCCTCATGCTGGCGGCGCCGACCTGTGGTGCAATGCTCTGAGTAGGAGAATCTTAAATACATGTTTGAGATTCAATTCCCAGAAACGTAACTAGTCTTCACAAGCCAAAAAAATAAAAATAAAAAATAAAAAAAGGAAGTGATTTCTTTTCAAGAGGTCAAAGGGCCTGGAAGAAGAGGTCCTGGCTTGAGTGTCTCAAGGCTTTCTGGGGCCTAATCCGGCTGGAATGGGCCGCAGCATTCATATTCCTGTCCTTGGTCGTGTCTTAATGAAGAATTGAAAATAATAAGGGGTGGAGAAATAACTTTCCTTTTTCTCCCACCATCCTCCCACAGTGTAAATAAACAAATAACTCTAAGCTCGATTTCCTCATTTGTCAGGGGTGGGGAAAGACTTGACATCAGGACTCTTCCATTCCATCGCCACCTGTCTTAATTTAAACATTCCCATGACCCACCCCAGAAGCGCCAACCTCCCGCCCACAAGGAGCATGGAAGTCTTGGTTTCTGGCTACTGCGCAGACTCCACCTTGGACCTACTCCCCAACCCCCCGCCGCTCCTTTCCCCGTTTCTCCAGCAGAGGGCGCAGGCCCAAAGGTTCCGCCGACCCCGCCCCAGCCTGGCCCCGCCCCGCCCCGGCGTAGGGGCGGGGAAGACGGGCACAGAAACCTGGCCGCGGCTTTCCGGGAGCTGTGGGCACGCGAGCTGCTCGAAGCCGGTGGCCCGGGGATCGTCGCTGCCCAGTCCGGCCGCGGCCGGCCGCTTCCCCGAGCTTACCAGTAAGCCGGTCCGCCTCCGGGACGCGCCCCGCCCGCCCCGGGCTCGCGCGCTCTGAAGGGGCGCGTCCCGCGCACTCCCGGCGCCGCCCACTCCCCTCCCCACGGCCGCTCCTCCCTCCGCCCGGATAGCCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCGGGAGAGGCCCCTCCTTCACGCCCTGCTTCTCTCCCTCGCTCGCAGTCGAGCCGAGCCGGCGGACCCGCCTGGGCTCCGACCCTGCCCAGGCCATGGCCGGCAACGTGAAGAAGAGCTCTGGGGCCGGGGGCGGCAGCGGCTCCGGGGGCTCGGGTTCGGGTGGCCTGATTGGGCTCATGAAGGACGCCTTCCAGCCGCACCACCACCACCACCACCACCACCTCAGCCCCCACCCGCCGGGGACGGTGGACAAGAAGATGGTGGAGAAGTGCTGGAAGCTCATGGACAAGGTGAAAGGCCGGCTGAGCGCCCGCTGTTGCAGGGTGGGCGTGGGCGGAGGGCCGCGGGGAGGGGAACGAGCGGACGGAGGAAGCGGGGGAGGGGACGGGTCTGGTGAAGCCGGGGAGGCGCGGAGCCGGGGTGACCGGCCGGGGGCGTGGGGGCAGGGACGAGGCCGGGAGGGTGGGGGGCGGCGTGGGGGAGGGGCTGCCGTTGGGAGTCGGGGAACGCTGGGGTGCCGCGTTTGGGGTAGCCAGACAAAGATGGAGTGGGGGCTGGGGCGAAGGTTAACTGGGAAGTCAGTGGGGCGGAAGTACAATGAGGGGTGCGGAGTTTGGGGCTCTGTGCAGGGTGTAGGGATGTAGGTCACGGAATTGGCCTGGGAGGTTAGCAGGGAGGGGGTGAGGAAGAGTGATGTACCGGCTGGGGCTCTTGGCTGGGTGAGATCTGACTAGGGAATTAGGTTCATGGGCTCTGACTGAGGAACCTGGCTGGGGTCAGGACAGCTCTCAGGGAAGCTGTGCTCTGGGTGAGAGTATAGTCCTTTCTCATTAAGATGTAACACGAAGATAAAAGACATATTGATGTTTAAGTGAGGCAAGGAAAGAACTTTCCTCCCCATCTAGCGCCGGCTCAAGTTTTTTGTTACCCTCAGAAACACTGGATGTGATCCATTGCTGGTGCTGAGATATGCACTGATTAAACCACAAGTTCTGGTTAGAACTATTATCTTCTGAAAGATGGACTGGCTGAGCCTGTTAAGCAGCAGCAGATTCTGACTTCTTAATAACTTCCTCCCTACTACATCGCTTGAGCTGGGTTCTTTTTTTCTGGTAACGGTTCTGACTCCTTATTACAGGTCCTGACTTTAAACTTGTTCGTTGAGCTTCTTTGATTACGCTTTTTTGTTTGTTTGCTTTTTGCAAGTGCGAACAAAAATAACTCCTTTATATTTAGCCACTAAGTTTGTCATTTGGGAGAATTTTACTTCCTTATAGTTGTGTCTATATGATGAAATGTAGTCAGTCTCAAGTATTTAACTGTTTAAGCAGTCGGACGCTTTGTCAGAATTCAATACGTTTTCTTGGTATTTTTCATATTCTTTAATTAATTACTTTGACAAAATTCATATTGCGTATGAAAAGTGATTAGAAGTATCTGGCACGTTTTAAGAGAATGGTGTTATTTCCTCCAGGGTAAAATTTGGTTTTCTTTGGTTCCTCCCTGGGCCTCGGTTCCTCTTCTGTAAAGTTCTTCATGGGTTGCTTTGGACTAGAAACCGCTAATAAAATGATTATGAAGCACTTAGCCAATGTAATGTGCAATTTAAATGCTTAATAAGTCCTGTGTGTGAATTAACACTCCAGTAGTGCATGCCAGTGGTTTCATAGCCACCTTTTTAGGGCTGGCTTTTCTCATGTTAAATAATTGGTATTGTAATTAATGACACAAGTATTCGTGTGTTGATTATATTGGTGGTGTAGTACTAATTTTATTGTTAGAAATTATAATAAAATCCTTACAGAAAGTTTAGGTGTGTAAAGGAAACTTTAAATGTGTCGACTCCTTTAAAAAAAACACATCGAAGATATTCAAATGCTAAAGTTTGTTAGTTTGCTTTTTAGGGATTTATCGTTAAGGACTACAAATTTTACTCTGGCATAGAAAAAATACTTTTCTAATGAGTGTCTCGTATCAGACATGTGGGTGCAGTACAATCAAAATTGTGTTGATTAGTGGCCTCTGCTTAAGAATAATCTGTTTACTAAAGAGTTTCTGTATTCTGTATTCTTTTTTTTTTTTTGAGACGGAGTTTTTCGCTCTTGTTACCCAGGCTGGAGTGCATGGTGCGATCTCGACTCACTGCAACCTCCGCCTCCTGGGTTCAAGACATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCGCGCCACCACGCCCAGCTAATTTTTTGTAT | benign | 189,140 |
Clinical classification of chromosome 11, position 119206624, gene CBL (Cbl proto-oncogene): benign or pathogenic? Disease(s) if pathogenic? | benign | TAAATAAAAAAGAAATAATTGTATTTGATGACTTGGTGAGTCAGCTAGCATAAGACATGTGTACCAGGGAGTAGTATAAAACTACAAGGTTGTTTAGCTTGGAGTTAGAGCAACTTGTCAATTTTATTCCCGAGGCAATGGGAGGTGTTTAAAGTTTTTTTGCGATGCTGTCTGAACTATACTTTAGGAAGCCTATGGTGGCAGGATGAATTGAAGGCACAGGAAAAGGTTTCAATATTCAATAGTCCAGGGAAAAGAAACGGAGGACCTGCAACTAGGTGTTGGCACTAAGGGATGGAGCTTTGCCTAGATTTTCCCTTTGTAGATTCTTCTCTTCCTGGATGGAAAATGATAAAAGGAAATTCTTCTGATAGTAAATTATAATGTTGACTCCAAAATCAATTCTAGATAAAGGCGATTAAATTGCAAACCCAGGATGCCTGTCTGAATGGTCCCTGCATTCAAAGATATTTTCCCCTTTACAGGAGCACCGGATAAATTTAACTCCCTAATCTGTCAAGGGCTTTGTGGAAGAGCCTGGAGGGGGATCGAAGGCGGAACTGATACTGACACACCTGGGTCTGCAAACTCCCAAAACTGAGGCTCAGAATTAGTAAATTAGGGCAGGGCACTTCCCTCTTTGGAAGGGAAGTTCCTATTTTCAAAGTTCTTCCAACGGAACTTTTACATTAGAGAAGTGTAATTGACTGAGAAGTGGAAGTGACCAGGAACAGCATTTCTGTTCCCTGGGCGGGAGAGAGAACCCCCTCGGGCGGAGCCAGCAGCAGGTCAGCTTCTGAGGGGGCCCTCATGCTGGCGGCGCCGACCTGTGGTGCAATGCTCTGAGTAGGAGAATCTTAAATACATGTTTGAGATTCAATTCCCAGAAACGTAACTAGTCTTCACAAGCCAAAAAAATAAAAATAAAAAATAAAAAAAGGAAGTGATTTCTTTTCAAGAGGTCAAAGGGCCTGGAAGAAGAGGTCCTGGCTTGAGTGTCTCAAGGCTTTCTGGGGCCTAATCCGGCTGGAATGGGCCGCAGCATTCATATTCCTGTCCTTGGTCGTGTCTTAATGAAGAATTGAAAATAATAAGGGGTGGAGAAATAACTTTCCTTTTTCTCCCACCATCCTCCCACAGTGTAAATAAACAAATAACTCTAAGCTCGATTTCCTCATTTGTCAGGGGTGGGGAAAGACTTGACATCAGGACTCTTCCATTCCATCGCCACCTGTCTTAATTTAAACATTCCCATGACCCACCCCAGAAGCGCCAACCTCCCGCCCACAAGGAGCATGGAAGTCTTGGTTTCTGGCTACTGCGCAGACTCCACCTTGGACCTACTCCCCAACCCCCCGCCGCTCCTTTCCCCGTTTCTCCAGCAGAGGGCGCAGGCCCAAAGGTTCCGCCGACCCCGCCCCAGCCTGGCCCCGCCCCGCCCCGGCGTAGGGGCGGGGAAGACGGGCACAGAAACCTGGCCGCGGCTTTCCGGGAGCTGTGGGCACGCGAGCTGCTCGAAGCCGGTGGCCCGGGGATCGTCGCTGCCCAGTCCGGCCGCGGCCGGCCGCTTCCCCGAGCTTACCAGTAAGCCGGTCCGCCTCCGGGACGCGCCCCGCCCGCCCCGGGCTCGCGCGCTCTGAAGGGGCGCGTCCCGCGCACTCCCGGCGCCGCCCACTCCCCTCCCCACGGCCGCTCCTCCCTCCGCCCGGATAGCCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCGGGAGAGGCCCCTCCTTCACGCCCTGCTTCTCTCCCTCGCTCGCAGTCGAGCCGAGCCGGCGGACCCGCCTGGGCTCCGACCCTGCCCAGGCCATGGCCGGCAACGTGAAGAAGAGCTCTGGGGCCGGGGGCGGCAGCGGCTCCGGGGGCTCGGGTTCGGGTGGCCTGATTGGGCTCATGAAGGACGCCTTCCAGCCGCACCACCACCACCACCACCACCTCAGCCCCCACCCGCCGGGGACGGTGGACAAGAAGATGGTGGAGAAGTGCTGGAAGCTCATGGACAAGGTGAAAGGCCGGCTGAGCGCCCGCTGTTGCAGGGTGGGCGTGGGCGGAGGGCCGCGGGGAGGGGAACGAGCGGACGGAGGAAGCGGGGGAGGGGACGGGTCTGGTGAAGCCGGGGAGGCGCGGAGCCGGGGTGACCGGCCGGGGGCGTGGGGGCAGGGACGAGGCCGGGAGGGTGGGGGGCGGCGTGGGGGAGGGGCTGCCGTTGGGAGTCGGGGAACGCTGGGGTGCCGCGTTTGGGGTAGCCAGACAAAGATGGAGTGGGGGCTGGGGCGAAGGTTAACTGGGAAGTCAGTGGGGCGGAAGTACAATGAGGGGTGCGGAGTTTGGGGCTCTGTGCAGGGTGTAGGGATGTAGGTCACGGAATTGGCCTGGGAGGTTAGCAGGGAGGGGGTGAGGAAGAGTGATGTACCGGCTGGGGCTCTTGGCTGGGTGAGATCTGACTAGGGAATTAGGTTCATGGGCTCTGACTGAGGAACCTGGCTGGGGTCAGGACAGCTCTCAGGGAAGCTGTGCTCTGGGTGAGAGTATAGTCCTTTCTCATTAAGATGTAACACGAAGATAAAAGACATATTGATGTTTAAGTGAGGCAAGGAAAGAACTTTCCTCCCCATCTAGCGCCGGCTCAAGTTTTTTGTTACCCTCAGAAACACTGGATGTGATCCATTGCTGGTGCTGAGATATGCACTGATTAAACCACAAGTTCTGGTTAGAACTATTATCTTCTGAAAGATGGACTGGCTGAGCCTGTTAAGCAGCAGCAGATTCTGACTTCTTAATAACTTCCTCCCTACTACATCGCTTGAGCTGGGTTCTTTTTTTCTGGTAACGGTTCTGACTCCTTATTACAGGTCCTGACTTTAAACTTGTTCGTTGAGCTTCTTTGATTACGCTTTTTTGTTTGTTTGCTTTTTGCAAGTGCGAACAAAAATAACTCCTTTATATTTAGCCACTAAGTTTGTCATTTGGGAGAATTTTACTTCCTTATAGTTGTGTCTATATGATGAAATGTAGTCAGTCTCAAGTATTTAACTGTTTAAGCAGTCGGACGCTTTGTCAGAATTCAATACGTTTTCTTGGTATTTTTCATATTCTTTAATTAATTACTTTGACAAAATTCATATTGCGTATGAAAAGTGATTAGAAGTATCTGGCACGTTTTAAGAGAATGGTGTTATTTCCTCCAGGGTAAAATTTGGTTTTCTTTGGTTCCTCCCTGGGCCTCGGTTCCTCTTCTGTAAAGTTCTTCATGGGTTGCTTTGGACTAGAAACCGCTAATAAAATGATTATGAAGCACTTAGCCAATGTAATGTGCAATTTAAATGCTTAATAAGTCCTGTGTGTGAATTAACACTCCAGTAGTGCATGCCAGTGGTTTCATAGCCACCTTTTTAGGGCTGGCTTTTCTCATGTTAAATAATTGGTATTGTAATTAATGACACAAGTATTCGTGTGTTGATTATATTGGTGGTGTAGTACTAATTTTATTGTTAGAAATTATAATAAAATCCTTACAGAAAGTTTAGGTGTGTAAAGGAAACTTTAAATGTGTCGACTCCTTTAAAAAAAACACATCGAAGATATTCAAATGCTAAAGTTTGTTAGTTTGCTTTTTAGGGATTTATCGTTAAGGACTACAAATTTTACTCTGGCATAGAAAAAATACTTTTCTAATGAGTGTCTCGTATCAGACATGTGGGTGCAGTACAATCAAAATTGTGTTGATTAGTGGCCTCTGCTTAAGAATAATCTGTTTACTAAAGAGTTTCTGTATTCTGTATTCTTTTTTTTTTTTTGAGACGGAGTTTTTCGCTCTTGTTACCCAGGCTGGAGTGCATGGTGCGATCTCGACTCACTGCAACCTCCGCCTCCTGGGTTCAAGACATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGACCAGGCTCGTCTCGAACTCCTGACCTCAGGTGATCCATGCGCCACGGCCTCCCAAAGTGCTGGGATTACAGGTG | TAAATAAAAAAGAAATAATTGTATTTGATGACTTGGTGAGTCAGCTAGCATAAGACATGTGTACCAGGGAGTAGTATAAAACTACAAGGTTGTTTAGCTTGGAGTTAGAGCAACTTGTCAATTTTATTCCCGAGGCAATGGGAGGTGTTTAAAGTTTTTTTGCGATGCTGTCTGAACTATACTTTAGGAAGCCTATGGTGGCAGGATGAATTGAAGGCACAGGAAAAGGTTTCAATATTCAATAGTCCAGGGAAAAGAAACGGAGGACCTGCAACTAGGTGTTGGCACTAAGGGATGGAGCTTTGCCTAGATTTTCCCTTTGTAGATTCTTCTCTTCCTGGATGGAAAATGATAAAAGGAAATTCTTCTGATAGTAAATTATAATGTTGACTCCAAAATCAATTCTAGATAAAGGCGATTAAATTGCAAACCCAGGATGCCTGTCTGAATGGTCCCTGCATTCAAAGATATTTTCCCCTTTACAGGAGCACCGGATAAATTTAACTCCCTAATCTGTCAAGGGCTTTGTGGAAGAGCCTGGAGGGGGATCGAAGGCGGAACTGATACTGACACACCTGGGTCTGCAAACTCCCAAAACTGAGGCTCAGAATTAGTAAATTAGGGCAGGGCACTTCCCTCTTTGGAAGGGAAGTTCCTATTTTCAAAGTTCTTCCAACGGAACTTTTACATTAGAGAAGTGTAATTGACTGAGAAGTGGAAGTGACCAGGAACAGCATTTCTGTTCCCTGGGCGGGAGAGAGAACCCCCTCGGGCGGAGCCAGCAGCAGGTCAGCTTCTGAGGGGGCCCTCATGCTGGCGGCGCCGACCTGTGGTGCAATGCTCTGAGTAGGAGAATCTTAAATACATGTTTGAGATTCAATTCCCAGAAACGTAACTAGTCTTCACAAGCCAAAAAAATAAAAATAAAAAATAAAAAAAGGAAGTGATTTCTTTTCAAGAGGTCAAAGGGCCTGGAAGAAGAGGTCCTGGCTTGAGTGTCTCAAGGCTTTCTGGGGCCTAATCCGGCTGGAATGGGCCGCAGCATTCATATTCCTGTCCTTGGTCGTGTCTTAATGAAGAATTGAAAATAATAAGGGGTGGAGAAATAACTTTCCTTTTTCTCCCACCATCCTCCCACAGTGTAAATAAACAAATAACTCTAAGCTCGATTTCCTCATTTGTCAGGGGTGGGGAAAGACTTGACATCAGGACTCTTCCATTCCATCGCCACCTGTCTTAATTTAAACATTCCCATGACCCACCCCAGAAGCGCCAACCTCCCGCCCACAAGGAGCATGGAAGTCTTGGTTTCTGGCTACTGCGCAGACTCCACCTTGGACCTACTCCCCAACCCCCCGCCGCTCCTTTCCCCGTTTCTCCAGCAGAGGGCGCAGGCCCAAAGGTTCCGCCGACCCCGCCCCAGCCTGGCCCCGCCCCGCCCCGGCGTAGGGGCGGGGAAGACGGGCACAGAAACCTGGCCGCGGCTTTCCGGGAGCTGTGGGCACGCGAGCTGCTCGAAGCCGGTGGCCCGGGGATCGTCGCTGCCCAGTCCGGCCGCGGCCGGCCGCTTCCCCGAGCTTACCAGTAAGCCGGTCCGCCTCCGGGACGCGCCCCGCCCGCCCCGGGCTCGCGCGCTCTGAAGGGGCGCGTCCCGCGCACTCCCGGCGCCGCCCACTCCCCTCCCCACGGCCGCTCCTCCCTCCGCCCGGATAGCCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCGGGAGAGGCCCCTCCTTCACGCCCTGCTTCTCTCCCTCGCTCGCAGTCGAGCCGAGCCGGCGGACCCGCCTGGGCTCCGACCCTGCCCAGGCCATGGCCGGCAACGTGAAGAAGAGCTCTGGGGCCGGGGGCGGCAGCGGCTCCGGGGGCTCGGGTTCGGGTGGCCTGATTGGGCTCATGAAGGACGCCTTCCAGCCGCACCACCACCACCACCACCACCTCAGCCCCCACCCGCCGGGGACGGTGGACAAGAAGATGGTGGAGAAGTGCTGGAAGCTCATGGACAAGGTGAAAGGCCGTTTGAGCGCCCGCTGTTGCAGGGTGGGCGTGGGCGGAGGGCCGCGGGGAGGGGAACGAGCGGACGGAGGAAGCGGGGGAGGGGACGGGTCTGGTGAAGCCGGGGAGGCGCGGAGCCGGGGTGACCGGCCGGGGGCGTGGGGGCAGGGACGAGGCCGGGAGGGTGGGGGGCGGCGTGGGGGAGGGGCTGCCGTTGGGAGTCGGGGAACGCTGGGGTGCCGCGTTTGGGGTAGCCAGACAAAGATGGAGTGGGGGCTGGGGCGAAGGTTAACTGGGAAGTCAGTGGGGCGGAAGTACAATGAGGGGTGCGGAGTTTGGGGCTCTGTGCAGGGTGTAGGGATGTAGGTCACGGAATTGGCCTGGGAGGTTAGCAGGGAGGGGGTGAGGAAGAGTGATGTACCGGCTGGGGCTCTTGGCTGGGTGAGATCTGACTAGGGAATTAGGTTCATGGGCTCTGACTGAGGAACCTGGCTGGGGTCAGGACAGCTCTCAGGGAAGCTGTGCTCTGGGTGAGAGTATAGTCCTTTCTCATTAAGATGTAACACGAAGATAAAAGACATATTGATGTTTAAGTGAGGCAAGGAAAGAACTTTCCTCCCCATCTAGCGCCGGCTCAAGTTTTTTGTTACCCTCAGAAACACTGGATGTGATCCATTGCTGGTGCTGAGATATGCACTGATTAAACCACAAGTTCTGGTTAGAACTATTATCTTCTGAAAGATGGACTGGCTGAGCCTGTTAAGCAGCAGCAGATTCTGACTTCTTAATAACTTCCTCCCTACTACATCGCTTGAGCTGGGTTCTTTTTTTCTGGTAACGGTTCTGACTCCTTATTACAGGTCCTGACTTTAAACTTGTTCGTTGAGCTTCTTTGATTACGCTTTTTTGTTTGTTTGCTTTTTGCAAGTGCGAACAAAAATAACTCCTTTATATTTAGCCACTAAGTTTGTCATTTGGGAGAATTTTACTTCCTTATAGTTGTGTCTATATGATGAAATGTAGTCAGTCTCAAGTATTTAACTGTTTAAGCAGTCGGACGCTTTGTCAGAATTCAATACGTTTTCTTGGTATTTTTCATATTCTTTAATTAATTACTTTGACAAAATTCATATTGCGTATGAAAAGTGATTAGAAGTATCTGGCACGTTTTAAGAGAATGGTGTTATTTCCTCCAGGGTAAAATTTGGTTTTCTTTGGTTCCTCCCTGGGCCTCGGTTCCTCTTCTGTAAAGTTCTTCATGGGTTGCTTTGGACTAGAAACCGCTAATAAAATGATTATGAAGCACTTAGCCAATGTAATGTGCAATTTAAATGCTTAATAAGTCCTGTGTGTGAATTAACACTCCAGTAGTGCATGCCAGTGGTTTCATAGCCACCTTTTTAGGGCTGGCTTTTCTCATGTTAAATAATTGGTATTGTAATTAATGACACAAGTATTCGTGTGTTGATTATATTGGTGGTGTAGTACTAATTTTATTGTTAGAAATTATAATAAAATCCTTACAGAAAGTTTAGGTGTGTAAAGGAAACTTTAAATGTGTCGACTCCTTTAAAAAAAACACATCGAAGATATTCAAATGCTAAAGTTTGTTAGTTTGCTTTTTAGGGATTTATCGTTAAGGACTACAAATTTTACTCTGGCATAGAAAAAATACTTTTCTAATGAGTGTCTCGTATCAGACATGTGGGTGCAGTACAATCAAAATTGTGTTGATTAGTGGCCTCTGCTTAAGAATAATCTGTTTACTAAAGAGTTTCTGTATTCTGTATTCTTTTTTTTTTTTTGAGACGGAGTTTTTCGCTCTTGTTACCCAGGCTGGAGTGCATGGTGCGATCTCGACTCACTGCAACCTCCGCCTCCTGGGTTCAAGACATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGACCAGGCTCGTCTCGAACTCCTGACCTCAGGTGATCCATGCGCCACGGCCTCCCAAAGTGCTGGGATTACAGGTG | benign | 189,148 |
Clinically, how would you classify the variant at chromosome 11, position 119274995, gene CBL (Cbl proto-oncogene): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TATAAATATAAATATCCTAGGTTTTGTCGTTTTATTTTTTTTTTTTTTTGAGACAGGATGTCACTCTCTTGCCTAGTCTGGTGTGCAGTGGTACAATCAATCATAGCTCATCGCAGCCTCAAACTCTTGGATTCAAGCAGTTCTCCCAAGTAGCTGGGACTACACGTGTGTGCTGCCAGGCCCAGCTAATTTGCAGAGACAGGATTTTGCTGTGTTACCCAGGCTGGTCTCGAAGTCCTGGCCTCAAATAATCTTTCCCCCTGGCCTCTCAAAGTACTAGGATTACAAGCGTGAGCCACTGTGTTAGGCCCAAGTTTCTCTTTAAAGGCCTTCATTTTTGGCCAGGCACAGTGGCTCACTCCTGTAGTCCCAGCACTTTAGGTGGCCAAGGCAGGAGGATTTCTTGAGGCCAGAAGTTTGAGACTACTACCCTGGATGACATTACAAGACCTGGTCTTTATTTGTAAATTATTTTTTATTTTTCTTTTCTTGTTTTGCAGCAAGGTTTCACTCTGTTGCCCAGGCTGTAGTGCAGTGGCACGATCTCACTTGCAACCTCTGCCTCCAAAGTTCAAGTGATTTTCCCCCCTCAGCCTCCAGAGTAGCTGGAACTAATTAGTCTGGCTAATTTTGTTTGTTTGTTTGTTTTTGTAGAGACAAAGTTTCACCATATTGCCCAGTCTGGGCTCAAGCAGTCTGCCCACTTTGGCCTCTCAAAGTGCTGGGCCTCCCAAAGGCATGCACCATGGCTCCTGGTCCCCTTCTTTCTTTTCTTAAAGAAGTTGACCTGTATTTTGAATTACGAGAATTGAAATTGGTATTGAGAGCTTAATGTGGCTCTCCTTCCTTTCCTTGATTATGGCGATGCCTGGAATTATCTCTGTTATTTCACTTTATGCCTCCTCTCCACCCCCTCCCCAGGACAATAGTCCCTTGGAAGAGCTTTCGACAGGCTCTACATGAAGTGCATCCCATCAGTTCTGGGCTGGAGGCCATGGCTCTGAAATCCACTATTGATCTGACCTGCAATGATTATATTTCGGTTTTTGAATTTGACATCTTTACCCGACTCTTTCAGGTAGGACACTAAAAAAGTTGACTAAACTGGTTACTGCTACTTCGGTGAAGAGAAAGCTTTTTTTTTTTTTTTTTAAATAACATTTGGGGTTTTTGTCTGTATGAAAGTATTTTAATTCATTTTAGGAACTATGCCAAAAAAAAGATTAAAACTATCTCATATTAAAAATATATGTATGTGTGTGTATGTATATATAGTGAAAATGACAGCTATACCAACTGCTTTCTTCTCCTCACATCTTTCCTTGTTATTGAATATTCTTCTTTTGTATCATTTTAATGTTTGTAGAATGGCCAGAATATGAATATATTAGTTTTCTGATATTGGATATTTGTGTATGTTTGCAACTGTTTCTCCTGTTTTATTGAAATTGACTGTTAATATTGAGATGTTTAGATGCTTCAAAAACAACTCCTTTCTTTTTCTCTAAAAATAATGCTTTCTCTGGTGTTGTCTGTGCCAATTTGCATACACATTTATTTGGAACTTATTAGTTGCACCTATAGGCCCTATCCTGGTTTTCAGTTTGTTGTTGTTCAACCCCACTACTGTTAATTAGAGCTGCTTTACAAATTCTAGAATTTTCATTTTGTGTCAAGTTTCTCCCTATAAGCATATATTCTTTTCTTCGTAGCTTTTCAGAGTTTTTAATCTCCTGAACACATGTGTCTTCTCTCTGAGTGATGGTATAATTAAAAATTTCTGACAATGAACTGAGAGTTGGTGTTGTTTTTTTTTTTTCTCATTGCCCTCTGAGTTGGTTGTACATCTGACCTGAATAGTCTGTGATTGATCTTGTTTCTTTAGCCCTGGTCCTCTTTGCTCAGGAATTGGAACAGCCTTGCTGTAACTCATCCTGGCTACATGGCTTTTTTGACGTATGACGAAGTGAAAGCTCGGCTCCAGAAATTCATTCACAAACCTGGCAGGTCAGTTCAATGACGCAAAGAGATTTATTCTTCTGAATTTCGTTATCTTGAGACTTCTGCTAGTATAGAAGAAACATGACCTTAATTAGTTTCGCAATAGCCAAGGTTCTGCAATAGGATTGATACCTGTTTATCAGACGTATTGACTTAATTCAGATCCTATAATTTGATAAATGTTTTCAGGCCACTTAAGAATTGAATTTATGGCCGGGCACAGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAAGTGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGTCATTGCACTCTAGCCTGGGCAATAAGAGCGAAACCCCATCTCAAAAACAACAAAAACAAAAAAAGAATAGAGTTTATGTGTCTTTTGCTTCTGGTGTGGAGTCATGGAAGAAGTTACTCTCTTTTTAAAAATATTTTCTTTCTTTTTTCTTGTCACTGACTTGAAGCTCAGAAGTAGTTATTCTTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATACTTGAGATCAGAAGTTTAAGACTGGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATACTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCCAGACTCCATCTTAAAAAAAGAAAGAAAGAAAGGAAGAAAGTTATTGTTATTCTTGATGGTTCTTTTGATTTTTGTCTGTATCTTGCCTTGCCTTCCACCGTAATACCAGCATAATCTACTAAAGCTTCTGTTTATGTCTGTTCATAGTTATATCTTCCGGCTGAGCTGTACTCGTCTGGGTCAGTGGGCTATTGGGTATGTTACTGCTGATGGGAACATTCTCCAGACAATCCCTCACAATAAACCTCTCTTCCAAGCACTGATTGATGGCTTCAGGGAAGGCTTGTGAGTACCTACTGCATACCATCTGTTAGAGTCTGGGAACTTAGGGGCTGTCCAACCTCATCATTAATGACTTTATTCCAGGTTTCTTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTTATTTAACTAGTCGGCATTCAAGTGATTCAATGTTCCTAATAGCCATAGGCCTCAGTGGCCTTCATCTGCTTTCATCCTCACTTCGCTTTTGTTCAGCAGCATTTCTTCAGGCCTTGGGCTACTGTAACCTATGCTGCTATTTATAACTAAGTCCTTATTTATTCCAGAATTGCTATTCCTTTGAGAATTCAAATTAATTATCAGTTGGTAAACACTTAAAAATACTAACAGTTGACCAGATGGCAGAAAACTAGCTTGTGTTTTGAAGTGATTAGGAAAATACATTTTATATTATACATTATCTTTTACTTACAATAGCATTGGGACTGAAAGGAGTGCTGCCCCAAATGTCAGAACAGTTTGATGCTAGAAACTGTGGATCTCCCTGGTAGATGATCTCAGTAGCTTAATTTGCATATTGTTACATTGCTTTTAAATTGGTGTCTCTCATTTTCTTAAACCTGTAAACCTTCTTTGATCAAAAGCAAATGCAGTTTAAACTAAGAAGTTAAGCCGGGTGCAGTGGTTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAGTT | TATAAATATAAATATCCTAGGTTTTGTCGTTTTATTTTTTTTTTTTTTTGAGACAGGATGTCACTCTCTTGCCTAGTCTGGTGTGCAGTGGTACAATCAATCATAGCTCATCGCAGCCTCAAACTCTTGGATTCAAGCAGTTCTCCCAAGTAGCTGGGACTACACGTGTGTGCTGCCAGGCCCAGCTAATTTGCAGAGACAGGATTTTGCTGTGTTACCCAGGCTGGTCTCGAAGTCCTGGCCTCAAATAATCTTTCCCCCTGGCCTCTCAAAGTACTAGGATTACAAGCGTGAGCCACTGTGTTAGGCCCAAGTTTCTCTTTAAAGGCCTTCATTTTTGGCCAGGCACAGTGGCTCACTCCTGTAGTCCCAGCACTTTAGGTGGCCAAGGCAGGAGGATTTCTTGAGGCCAGAAGTTTGAGACTACTACCCTGGATGACATTACAAGACCTGGTCTTTATTTGTAAATTATTTTTTATTTTTCTTTTCTTGTTTTGCAGCAAGGTTTCACTCTGTTGCCCAGGCTGTAGTGCAGTGGCACGATCTCACTTGCAACCTCTGCCTCCAAAGTTCAAGTGATTTTCCCCCCTCAGCCTCCAGAGTAGCTGGAACTAATTAGTCTGGCTAATTTTGTTTGTTTGTTTGTTTTTGTAGAGACAAAGTTTCACCATATTGCCCAGTCTGGGCTCAAGCAGTCTGCCCACTTTGGCCTCTCAAAGTGCTGGGCCTCCCAAAGGCATGCACCATGGCTCCTGGTCCCCTTCTTTCTTTTCTTAAAGAAGTTGACCTGTATTTTGAATTACGAGAATTGAAATTGGTATTGAGAGCTTAATGTGGCTCTCCTTCCTTTCCTTGATTATGGCGATGCCTGGAATTATCTCTGTTATTTCACTTTATGCCTCCTCTCCACCCCCTCCCCAGGACAATAGTCCCTTGGAAGAGCTTTCGACAGGCTCTACATGAAGTGCATCCCATCAGTTCTGGGCTGGAGGCCATGGCTCTGAAATCCACTATTGATCTGACCTGCAATGATTATATTTCGGTTTTTGAATTTGACATCTTTACCCGACTCTTTCAGGTAGGACACTAAAAAAGTTGACTAAACTGGTTACTGCTACTTCGGTGAAGAGAAAGCTTTTTTTTTTTTTTTTTAAATAACATTTGGGGTTTTTGTCTGTATGAAAGTATTTTAATTCATTTTAGGAACTATGCCAAAAAAAAGATTAAAACTATCTCATATTAAAAATATATGTATGTGTGTGTATGTATATATAGTGAAAATGACAGCTATACCAACTGCTTTCTTCTCCTCACATCTTTCCTTGTTATTGAATATTCTTCTTTTGTATCATTTTAATGTTTGTAGAATGGCCAGAATATGAATATATTAGTTTTCTGATATTGGATATTTGTGTATGTTTGCAACTGTTTCTCCTGTTTTATTGAAATTGACTGTTAATATTGAGATGTTTAGATGCTTCAAAAACAACTCCTTTCTTTTTCTCTAAAAATAATGCTTTCTCTGGTGTTGTCTGTGCCAATTTGCATACACATTTATTTGGAACTTATTAGTTGCACCTATAGGCCCTATCCTGGTTTTCAGTTTGTTGTTGTTCAACCCCACTACTGTTAATTAGAGCTGCTTTACAAATTCTAGAATTTTCATTTTGTGTCAAGTTTCTCCCTATAAGCATATATTCTTTTCTTCGTAGCTTTTCAGAGTTTTTAATCTCCTGAACACATGTGTCTTCTCTCTGAGTGATGGTATAATTAAAAATTTCTGACAATGAACTGAGAGTTGGTGTTGTTTTTTTTTTTTCTCATTGCCCTCTGAGTTGGTTGTACATCTGACCTGAATAGTCTGTGATTGATCTTGTTTCTTTAGCCCTGGTCCTCTTTGCTCAGGAATTGGAACAGCCTTGCTGTAACTCATCCTGGCTACATGGCTTTTTTGACGTATGACGAAGTGAAAGCTCGGCTCCAGAAATTCATTCACAAACCTGGCAGGTCAGTTCAATGACGCAAAGAGATTTATTCTTCTGAATTTCGTTTATCTTGAGACTTCTGCTAGTATAGAAGAAACATGACCTTAATTAGTTTCGCAATAGCCAAGGTTCTGCAATAGGATTGATACCTGTTTATCAGACGTATTGACTTAATTCAGATCCTATAATTTGATAAATGTTTTCAGGCCACTTAAGAATTGAATTTATGGCCGGGCACAGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAAGTGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGTCATTGCACTCTAGCCTGGGCAATAAGAGCGAAACCCCATCTCAAAAACAACAAAAACAAAAAAAGAATAGAGTTTATGTGTCTTTTGCTTCTGGTGTGGAGTCATGGAAGAAGTTACTCTCTTTTTAAAAATATTTTCTTTCTTTTTTCTTGTCACTGACTTGAAGCTCAGAAGTAGTTATTCTTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATACTTGAGATCAGAAGTTTAAGACTGGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATACTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCCAGACTCCATCTTAAAAAAAGAAAGAAAGAAAGGAAGAAAGTTATTGTTATTCTTGATGGTTCTTTTGATTTTTGTCTGTATCTTGCCTTGCCTTCCACCGTAATACCAGCATAATCTACTAAAGCTTCTGTTTATGTCTGTTCATAGTTATATCTTCCGGCTGAGCTGTACTCGTCTGGGTCAGTGGGCTATTGGGTATGTTACTGCTGATGGGAACATTCTCCAGACAATCCCTCACAATAAACCTCTCTTCCAAGCACTGATTGATGGCTTCAGGGAAGGCTTGTGAGTACCTACTGCATACCATCTGTTAGAGTCTGGGAACTTAGGGGCTGTCCAACCTCATCATTAATGACTTTATTCCAGGTTTCTTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTTATTTAACTAGTCGGCATTCAAGTGATTCAATGTTCCTAATAGCCATAGGCCTCAGTGGCCTTCATCTGCTTTCATCCTCACTTCGCTTTTGTTCAGCAGCATTTCTTCAGGCCTTGGGCTACTGTAACCTATGCTGCTATTTATAACTAAGTCCTTATTTATTCCAGAATTGCTATTCCTTTGAGAATTCAAATTAATTATCAGTTGGTAAACACTTAAAAATACTAACAGTTGACCAGATGGCAGAAAACTAGCTTGTGTTTTGAAGTGATTAGGAAAATACATTTTATATTATACATTATCTTTTACTTACAATAGCATTGGGACTGAAAGGAGTGCTGCCCCAAATGTCAGAACAGTTTGATGCTAGAAACTGTGGATCTCCCTGGTAGATGATCTCAGTAGCTTAATTTGCATATTGTTACATTGCTTTTAAATTGGTGTCTCTCATTTTCTTAAACCTGTAAACCTTCTTTGATCAAAAGCAAATGCAGTTTAAACTAAGAAGTTAAGCCGGGTGCAGTGGTTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAGT | benign | 189,188 |
Considering the genetic mutation at chromosome 11, position 119275977, impacting CBL (Cbl proto-oncogene): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GGGCTGGAGGCCATGGCTCTGAAATCCACTATTGATCTGACCTGCAATGATTATATTTCGGTTTTTGAATTTGACATCTTTACCCGACTCTTTCAGGTAGGACACTAAAAAAGTTGACTAAACTGGTTACTGCTACTTCGGTGAAGAGAAAGCTTTTTTTTTTTTTTTTTAAATAACATTTGGGGTTTTTGTCTGTATGAAAGTATTTTAATTCATTTTAGGAACTATGCCAAAAAAAAGATTAAAACTATCTCATATTAAAAATATATGTATGTGTGTGTATGTATATATAGTGAAAATGACAGCTATACCAACTGCTTTCTTCTCCTCACATCTTTCCTTGTTATTGAATATTCTTCTTTTGTATCATTTTAATGTTTGTAGAATGGCCAGAATATGAATATATTAGTTTTCTGATATTGGATATTTGTGTATGTTTGCAACTGTTTCTCCTGTTTTATTGAAATTGACTGTTAATATTGAGATGTTTAGATGCTTCAAAAACAACTCCTTTCTTTTTCTCTAAAAATAATGCTTTCTCTGGTGTTGTCTGTGCCAATTTGCATACACATTTATTTGGAACTTATTAGTTGCACCTATAGGCCCTATCCTGGTTTTCAGTTTGTTGTTGTTCAACCCCACTACTGTTAATTAGAGCTGCTTTACAAATTCTAGAATTTTCATTTTGTGTCAAGTTTCTCCCTATAAGCATATATTCTTTTCTTCGTAGCTTTTCAGAGTTTTTAATCTCCTGAACACATGTGTCTTCTCTCTGAGTGATGGTATAATTAAAAATTTCTGACAATGAACTGAGAGTTGGTGTTGTTTTTTTTTTTTCTCATTGCCCTCTGAGTTGGTTGTACATCTGACCTGAATAGTCTGTGATTGATCTTGTTTCTTTAGCCCTGGTCCTCTTTGCTCAGGAATTGGAACAGCCTTGCTGTAACTCATCCTGGCTACATGGCTTTTTTGACGTATGACGAAGTGAAAGCTCGGCTCCAGAAATTCATTCACAAACCTGGCAGGTCAGTTCAATGACGCAAAGAGATTTATTCTTCTGAATTTCGTTATCTTGAGACTTCTGCTAGTATAGAAGAAACATGACCTTAATTAGTTTCGCAATAGCCAAGGTTCTGCAATAGGATTGATACCTGTTTATCAGACGTATTGACTTAATTCAGATCCTATAATTTGATAAATGTTTTCAGGCCACTTAAGAATTGAATTTATGGCCGGGCACAGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAAGTGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGTCATTGCACTCTAGCCTGGGCAATAAGAGCGAAACCCCATCTCAAAAACAACAAAAACAAAAAAAGAATAGAGTTTATGTGTCTTTTGCTTCTGGTGTGGAGTCATGGAAGAAGTTACTCTCTTTTTAAAAATATTTTCTTTCTTTTTTCTTGTCACTGACTTGAAGCTCAGAAGTAGTTATTCTTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATACTTGAGATCAGAAGTTTAAGACTGGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATACTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCCAGACTCCATCTTAAAAAAAGAAAGAAAGAAAGGAAGAAAGTTATTGTTATTCTTGATGGTTCTTTTGATTTTTGTCTGTATCTTGCCTTGCCTTCCACCGTAATACCAGCATAATCTACTAAAGCTTCTGTTTATGTCTGTTCATAGTTATATCTTCCGGCTGAGCTGTACTCGTCTGGGTCAGTGGGCTATTGGGTATGTTACTGCTGATGGGAACATTCTCCAGACAATCCCTCACAATAAACCTCTCTTCCAAGCACTGATTGATGGCTTCAGGGAAGGCTTGTGAGTACCTACTGCATACCATCTGTTAGAGTCTGGGAACTTAGGGGCTGTCCAACCTCATCATTAATGACTTTATTCCAGGTTTCTTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTTATTTAACTAGTCGGCATTCAAGTGATTCAATGTTCCTAATAGCCATAGGCCTCAGTGGCCTTCATCTGCTTTCATCCTCACTTCGCTTTTGTTCAGCAGCATTTCTTCAGGCCTTGGGCTACTGTAACCTATGCTGCTATTTATAACTAAGTCCTTATTTATTCCAGAATTGCTATTCCTTTGAGAATTCAAATTAATTATCAGTTGGTAAACACTTAAAAATACTAACAGTTGACCAGATGGCAGAAAACTAGCTTGTGTTTTGAAGTGATTAGGAAAATACATTTTATATTATACATTATCTTTTACTTACAATAGCATTGGGACTGAAAGGAGTGCTGCCCCAAATGTCAGAACAGTTTGATGCTAGAAACTGTGGATCTCCCTGGTAGATGATCTCAGTAGCTTAATTTGCATATTGTTACATTGCTTTTAAATTGGTGTCTCTCATTTTCTTAAACCTGTAAACCTTCTTTGATCAAAAGCAAATGCAGTTTAAACTAAGAAGTTAAGCCGGGTGCAGTGGTTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTGTACTAAAAGTACAAAAAGTTAGCCGGACGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCGGAGGTTTCAGTGAGCCAAGATCACTCACTGCAACCTCAAAAAAAAAATAAGAATCTGTCGCGCACACACACACACACACACACACACACACATAAAGAATTTCTATCTGGTGGCCATCCATTGATTAAAAATGGGTTGGTAAACTGTGACCCATGGGCCACCTGTTTGTTCCCCCGGGGAGCCAAGATAGCTTTTCCTAAGAGTCGTTTTGAAAAAAACAATCAGAGAAGAATATGTGACACAGACTAATGTGGCCTACAAATCCTAAATGATTTTCTATCTGGCCCTTTACAGAAAAGCTTGCTAACCAACCCCTTGATTAAAAGATAGAGCCTATGGCATTGTTACCTGGAGAAGGAATAATAGTTTTTGGAGAATATCTTTAAACTGTTCTGTGTTTTTTATTTTTTTGAAGTATTATTTTTTGGAAGTATTTTTTTTTTGAAGTAAGATTGATCTTTATACTTACACCACGTTGCCCTTTTAGAATGGAGAAACTCCCAGATTCCATTTGTCTATATTAGCAAGCACTGGCAAATTGGCTTAAATAAAACCCAGGGTTGGTTACTCTTTACAGCTATTTGTTTCCTGATGGACGAAATCAGAATCCTGATCTGACTGGCTTATGTGAACCAACTCCCCAAGACCATATCAAAGTGACCCAGGTGAGTTTTGTTTCACATGATAACCATATCACTGGACACAAGCTTTAGTATATTCTTTATAGAACTGACAGCATAATTGAATTCATTGGAACCCATTGACTAGATTAGTGAATTTGTGTGTATGTGGTTTCACTTTAAACCCTGGAGCTTAAAATAGGACCCAGACTAGATGCTTTCTGG | GGGCTGGAGGCCATGGCTCTGAAATCCACTATTGATCTGACCTGCAATGATTATATTTCGGTTTTTGAATTTGACATCTTTACCCGACTCTTTCAGGTAGGACACTAAAAAAGTTGACTAAACTGGTTACTGCTACTTCGGTGAAGAGAAAGCTTTTTTTTTTTTTTTTTAAATAACATTTGGGGTTTTTGTCTGTATGAAAGTATTTTAATTCATTTTAGGAACTATGCCAAAAAAAAGATTAAAACTATCTCATATTAAAAATATATGTATGTGTGTGTATGTATATATAGTGAAAATGACAGCTATACCAACTGCTTTCTTCTCCTCACATCTTTCCTTGTTATTGAATATTCTTCTTTTGTATCATTTTAATGTTTGTAGAATGGCCAGAATATGAATATATTAGTTTTCTGATATTGGATATTTGTGTATGTTTGCAACTGTTTCTCCTGTTTTATTGAAATTGACTGTTAATATTGAGATGTTTAGATGCTTCAAAAACAACTCCTTTCTTTTTCTCTAAAAATAATGCTTTCTCTGGTGTTGTCTGTGCCAATTTGCATACACATTTATTTGGAACTTATTAGTTGCACCTATAGGCCCTATCCTGGTTTTCAGTTTGTTGTTGTTCAACCCCACTACTGTTAATTAGAGCTGCTTTACAAATTCTAGAATTTTCATTTTGTGTCAAGTTTCTCCCTATAAGCATATATTCTTTTCTTCGTAGCTTTTCAGAGTTTTTAATCTCCTGAACACATGTGTCTTCTCTCTGAGTGATGGTATAATTAAAAATTTCTGACAATGAACTGAGAGTTGGTGTTGTTTTTTTTTTTTCTCATTGCCCTCTGAGTTGGTTGTACATCTGACCTGAATAGTCTGTGATTGATCTTGTTTCTTTAGCCCTGGTCCTCTTTGCTCAGGAATTGGAACAGCCTTGCTGTAACTCATCCTGGCTACATGGCTTTTTTGACGTATGACGAAGTGAAAGCTCGGCTCCAGAAATTCATTCACAAACCTGGCAGGTCAGTTCAATGACGCAAAGAGATTTATTCTTCTGAATTTCGTTATCTTGAGACTTCTGCTAGTATAGAAGAAACATGACCTTAATTAGTTTCGCAATAGCCAAGGTTCTGCAATAGGATTGATACCTGTTTATCAGACGTATTGACTTAATTCAGATCCTATAATTTGATAAATGTTTTCAGGCCACTTAAGAATTGAATTTATGGCCGGGCACAGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAAAGTGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGTCATTGCACTCTAGCCTGGGCAATAAGAGCGAAACCCCATCTCAAAAACAACAAAAACAAAAAAAGAATAGAGTTTATGTGTCTTTTGCTTCTGGTGTGGAGTCATGGAAGAAGTTACTCTCTTTTTAAAAATATTTTCTTTCTTTTTTCTTGTCACTGACTTGAAGCTCAGAAGTAGTTATTCTTGGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATACTTGAGATCAGAAGTTTAAGACTGGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATACTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCATTTGAACCCAGGAGGTGGAGGCTGCAGTGAGCTGAGATTGTGCCACTGCACTCTAGCCTGGGTGACAGAGCCAGACTCCATCTTAAAAAAAGAAAGAAAGAAAGGAAGAAAGTTATTGTTATTCTTGATGGTTCTTTTGATTTTTGTCTGTATCTTGCCTTGCCTTCCACCGTAATACCAGCATAATCTACTAAAGCTTCGTTTATGTCTGTTCATAGTTATATCTTCCGGCTGAGCTGTACTCGTCTGGGTCAGTGGGCTATTGGGTATGTTACTGCTGATGGGAACATTCTCCAGACAATCCCTCACAATAAACCTCTCTTCCAAGCACTGATTGATGGCTTCAGGGAAGGCTTGTGAGTACCTACTGCATACCATCTGTTAGAGTCTGGGAACTTAGGGGCTGTCCAACCTCATCATTAATGACTTTATTCCAGGTTTCTTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTTATTTAACTAGTCGGCATTCAAGTGATTCAATGTTCCTAATAGCCATAGGCCTCAGTGGCCTTCATCTGCTTTCATCCTCACTTCGCTTTTGTTCAGCAGCATTTCTTCAGGCCTTGGGCTACTGTAACCTATGCTGCTATTTATAACTAAGTCCTTATTTATTCCAGAATTGCTATTCCTTTGAGAATTCAAATTAATTATCAGTTGGTAAACACTTAAAAATACTAACAGTTGACCAGATGGCAGAAAACTAGCTTGTGTTTTGAAGTGATTAGGAAAATACATTTTATATTATACATTATCTTTTACTTACAATAGCATTGGGACTGAAAGGAGTGCTGCCCCAAATGTCAGAACAGTTTGATGCTAGAAACTGTGGATCTCCCTGGTAGATGATCTCAGTAGCTTAATTTGCATATTGTTACATTGCTTTTAAATTGGTGTCTCTCATTTTCTTAAACCTGTAAACCTTCTTTGATCAAAAGCAAATGCAGTTTAAACTAAGAAGTTAAGCCGGGTGCAGTGGTTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTGTACTAAAAGTACAAAAAGTTAGCCGGACGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCGGAGGTTTCAGTGAGCCAAGATCACTCACTGCAACCTCAAAAAAAAAATAAGAATCTGTCGCGCACACACACACACACACACACACACACACATAAAGAATTTCTATCTGGTGGCCATCCATTGATTAAAAATGGGTTGGTAAACTGTGACCCATGGGCCACCTGTTTGTTCCCCCGGGGAGCCAAGATAGCTTTTCCTAAGAGTCGTTTTGAAAAAAACAATCAGAGAAGAATATGTGACACAGACTAATGTGGCCTACAAATCCTAAATGATTTTCTATCTGGCCCTTTACAGAAAAGCTTGCTAACCAACCCCTTGATTAAAAGATAGAGCCTATGGCATTGTTACCTGGAGAAGGAATAATAGTTTTTGGAGAATATCTTTAAACTGTTCTGTGTTTTTTATTTTTTTGAAGTATTATTTTTTGGAAGTATTTTTTTTTTGAAGTAAGATTGATCTTTATACTTACACCACGTTGCCCTTTTAGAATGGAGAAACTCCCAGATTCCATTTGTCTATATTAGCAAGCACTGGCAAATTGGCTTAAATAAAACCCAGGGTTGGTTACTCTTTACAGCTATTTGTTTCCTGATGGACGAAATCAGAATCCTGATCTGACTGGCTTATGTGAACCAACTCCCCAAGACCATATCAAAGTGACCCAGGTGAGTTTTGTTTCACATGATAACCATATCACTGGACACAAGCTTTAGTATATTCTTTATAGAACTGACAGCATAATTGAATTCATTGGAACCCATTGACTAGATTAGTGAATTTGTGTGTATGTGGTTTCACTTTAAACCCTGGAGCTTAAAATAGGACCCAGACTAGATGCTTTCTGGN | benign | 189,190 |
Variant in gene CBL (Cbl proto-oncogene), located at chromosome 11 position 119278161: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['CBL-related_disorder', 'Noonan_syndrome', 'RASopathy'] | TTGATGGCTTCAGGGAAGGCTTGTGAGTACCTACTGCATACCATCTGTTAGAGTCTGGGAACTTAGGGGCTGTCCAACCTCATCATTAATGACTTTATTCCAGGTTTCTTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTTATTTAACTAGTCGGCATTCAAGTGATTCAATGTTCCTAATAGCCATAGGCCTCAGTGGCCTTCATCTGCTTTCATCCTCACTTCGCTTTTGTTCAGCAGCATTTCTTCAGGCCTTGGGCTACTGTAACCTATGCTGCTATTTATAACTAAGTCCTTATTTATTCCAGAATTGCTATTCCTTTGAGAATTCAAATTAATTATCAGTTGGTAAACACTTAAAAATACTAACAGTTGACCAGATGGCAGAAAACTAGCTTGTGTTTTGAAGTGATTAGGAAAATACATTTTATATTATACATTATCTTTTACTTACAATAGCATTGGGACTGAAAGGAGTGCTGCCCCAAATGTCAGAACAGTTTGATGCTAGAAACTGTGGATCTCCCTGGTAGATGATCTCAGTAGCTTAATTTGCATATTGTTACATTGCTTTTAAATTGGTGTCTCTCATTTTCTTAAACCTGTAAACCTTCTTTGATCAAAAGCAAATGCAGTTTAAACTAAGAAGTTAAGCCGGGTGCAGTGGTTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTGTACTAAAAGTACAAAAAGTTAGCCGGACGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCGGAGGTTTCAGTGAGCCAAGATCACTCACTGCAACCTCAAAAAAAAAATAAGAATCTGTCGCGCACACACACACACACACACACACACACACATAAAGAATTTCTATCTGGTGGCCATCCATTGATTAAAAATGGGTTGGTAAACTGTGACCCATGGGCCACCTGTTTGTTCCCCCGGGGAGCCAAGATAGCTTTTCCTAAGAGTCGTTTTGAAAAAAACAATCAGAGAAGAATATGTGACACAGACTAATGTGGCCTACAAATCCTAAATGATTTTCTATCTGGCCCTTTACAGAAAAGCTTGCTAACCAACCCCTTGATTAAAAGATAGAGCCTATGGCATTGTTACCTGGAGAAGGAATAATAGTTTTTGGAGAATATCTTTAAACTGTTCTGTGTTTTTTATTTTTTTGAAGTATTATTTTTTGGAAGTATTTTTTTTTTGAAGTAAGATTGATCTTTATACTTACACCACGTTGCCCTTTTAGAATGGAGAAACTCCCAGATTCCATTTGTCTATATTAGCAAGCACTGGCAAATTGGCTTAAATAAAACCCAGGGTTGGTTACTCTTTACAGCTATTTGTTTCCTGATGGACGAAATCAGAATCCTGATCTGACTGGCTTATGTGAACCAACTCCCCAAGACCATATCAAAGTGACCCAGGTGAGTTTTGTTTCACATGATAACCATATCACTGGACACAAGCTTTAGTATATTCTTTATAGAACTGACAGCATAATTGAATTCATTGGAACCCATTGACTAGATTAGTGAATTTGTGTGTATGTGGTTTCACTTTAAACCCTGGAGCTTAAAATAGGACCCAGACTAGATGCTTTCTGGTTTAATAAAAAATAAACCACTGTTGTGACATTTTTATATAAGCAAAATTTGTATAGGAAACAAGTCTTCACTTTTTCTGTTAACATTTATAATTGCAGTTATTTATTCAACTAATAGTCTTTTAATTTTTTTTAATCAAAGGAACAATATGAATTATACTGTGAGATGGGCTCCACATTCCAACTATGTAAAATATGTGCTGAAAATGATAAGGATGTAAAGATTGAGCCCTGTGGACACCTCATGTGCACATCCTGTCTTACATCCTGGCAGGTACGGATCTAAACAGCGACTTTTTTCAGCTATGTAATAACCTTGGAAAATTCGGTATTATATAGCCTTTACTGATACAAGGGGTGGCCTGGCTTTTGGGGTTAGGTTTAAACTTTTACTTTTTTTTGATCTCTAGGAAATGTATTTTCTAGTAGATTAATATTTTAAGTATTTTCAGATGCATCTGTTACTATCTTTTGCTTCTTCTGCAGGAATCAGAAGGTCAGGGCTGTCCTTTCTGCCGATGTGAAATTAAAGGTACTGAACCCATCGTGGTAGATCCGTTTGATCCTAGAGGGAGTGGCAGCCTGTTGAGGCAAGGAGCAGAGGGAGCTCCCTCCCCAAATTATGATGATGATGATGATGAACGAGCTGATGATACTCTCTTCATGATGAAGGAATTGGCTGGTGCCAAGGTAAGATGGCAGTTTAGGAGACTGGCAAAATCCATTGTGAGTTGTCTTCTAAAGCCGTAAAACACTTAACGATATCCAAACTACAATGATAGGTAGTATTAATAGCTAATATTTATTGAGCATTTACTATATGACAGATATTGTGTTAAGCACTTTACTTGTTTTTTACTCAATCTTTACTACAGCCCTATGAGTACATACTACTATTATCCTTATTTAACAGATGAAGAAACTGAGGCACAAAGAGGTTAAGGAATTTGCCGAAGACCACACAGCTAGTAGGTTGAAGCATCTGTGAGCTGCATCTATGACCAGGCATTCCAGCTTAAGGCCCATGTTCTTACTGTCTGTATTTTTTAGGACTAAGACTTTATTCATATCTGTTGGTGGAGAATATGAGGGAGAAATAAAAGAACTGGACCCTCTTTTGCTAATGCAACTAGAATAAGTTCTGTTCCCTTTTTTTTTTTTTATTTTAATGGAGTCTTGGCATTAGAAGGTTGGGGCTGGGCATGCCCATAGCTCATGCCTATAATCCCAGTACTTTGGGACGTTGAGGCTGGAGGATCAGTTGAGCCCAGTTTGAGGCCAGCCTTGGCAATATAGTGAGACCCTATCTCTACCCCTGACTCCAAAACAAAACAAAAAAAAGCTGGGTATGGTGTTGTGCACCTGTAGTTCTAACTACTCTGGAGGCCAAGGCTGGAGGATCAGTTGAGCCCAGCAATTCGACATAGCAAGACCGTATCTTTACCACCACTGCCCCCATGCCCCCCCCTAAAAAAAAAAATAGCTGGGCATGATGGTGTACGCCTGTAGTTCTAACTAGTCTGGAGACTGAGACGGGAGGATTGCTTGATCCCAGGAATTCAAGGCGGGAGTGAGTTGTGATTGTACCACTGCACTCTAGGTTGGGTGACAGAGCGAGACCCTGTCTCATAAATAAATAGTAATTGTATACAATGTGTAGTGTGACTTATTTCTGTAAAAAAATTTTTTTAAGCATATACGTAGAAAAACTGGATGACTACATACCAAACTAATCACTGTTATTTCTGAGGATAGGAATTCAGAGCACTTAAATTCTGTGGAATATTTGAATTTTTTACAATTAATGCATATTACTTTTTCAAAGTGTTTGTTGTGCTAGATGGTTGAGTGCTATATGGGATAAGAAGTCTAAGACAAGGCTTTCAAGGAGCTAATTGTTTTATTTAGGAAAAGGACATATGTGCAGGTGAAACACTTCAACACAAGGCAGACAGTGAACATTGTTCCAAATTGTTGGGTACACTATAAGTCGGATAGGAGTTTAGAGGAAAGAAGTAAAGGAACACACTTTCCCTAGCCATGTAGAAATGTAAACAGAAAAAAAACCAGCCTCATGTATTTTGTCATTTGGCCATTCCATAATTTATTTTGTCTTCCTTTTAATGAACATTCATATTGTTTGCAGGCTTACGTATATTGGCCTGCTTTTACAAGTCTGTCTAGG | TTGATGGCTTCAGGGAAGGCTTGTGAGTACCTACTGCATACCATCTGTTAGAGTCTGGGAACTTAGGGGCTGTCCAACCTCATCATTAATGACTTTATTCCAGGTTTCTTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTTATTTAACTAGTCGGCATTCAAGTGATTCAATGTTCCTAATAGCCATAGGCCTCAGTGGCCTTCATCTGCTTTCATCCTCACTTCGCTTTTGTTCAGCAGCATTTCTTCAGGCCTTGGGCTACTGTAACCTATGCTGCTATTTATAACTAAGTCCTTATTTATTCCAGAATTGCTATTCCTTTGAGAATTCAAATTAATTATCAGTTGGTAAACACTTAAAAATACTAACAGTTGACCAGATGGCAGAAAACTAGCTTGTGTTTTGAAGTGATTAGGAAAATACATTTTATATTATACATTATCTTTTACTTACAATAGCATTGGGACTGAAAGGAGTGCTGCCCCAAATGTCAGAACAGTTTGATGCTAGAAACTGTGGATCTCCCTGGTAGATGATCTCAGTAGCTTAATTTGCATATTGTTACATTGCTTTTAAATTGGTGTCTCTCATTTTCTTAAACCTGTAAACCTTCTTTGATCAAAAGCAAATGCAGTTTAAACTAAGAAGTTAAGCCGGGTGCAGTGGTTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTGTACTAAAAGTACAAAAAGTTAGCCGGACGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCGGAGGTTTCAGTGAGCCAAGATCACTCACTGCAACCTCAAAAAAAAAATAAGAATCTGTCGCGCACACACACACACACACACACACACACACATAAAGAATTTCTATCTGGTGGCCATCCATTGATTAAAAATGGGTTGGTAAACTGTGACCCATGGGCCACCTGTTTGTTCCCCCGGGGAGCCAAGATAGCTTTTCCTAAGAGTCGTTTTGAAAAAAACAATCAGAGAAGAATATGTGACACAGACTAATGTGGCCTACAAATCCTAAATGATTTTCTATCTGGCCCTTTACAGAAAAGCTTGCTAACCAACCCCTTGATTAAAAGATAGAGCCTATGGCATTGTTACCTGGAGAAGGAATAATAGTTTTTGGAGAATATCTTTAAACTGTTCTGTGTTTTTTATTTTTTTGAAGTATTATTTTTTGGAAGTATTTTTTTTTTGAAGTAAGATTGATCTTTATACTTACACCACGTTGCCCTTTTAGAATGGAGAAACTCCCAGATTCCATTTGTCTATATTAGCAAGCACTGGCAAATTGGCTTAAATAAAACCCAGGGTTGGTTACTCTTTACAGCTATTTGTTTCCTGATGGACGAAATCAGAATCCTGATCTGACTGGCTTATGTGAACCAACTCCCCAAGACCATATCAAAGTGACCCAGGTGAGTTTTGTTTCACATGATAACCATATCACTGGACACAAGCTTTAGTATATTCTTTATAGAACTGACAGCATAATTGAATTCATTGGAACCCATTGACTAGATTAGTGAATTTGTGTGTATGTGGTTTCACTTTAAACCCTGGAGCTTAAAATAGGACCCAGACTAGATGCTTTCTGGTTTAATAAAAAATAAACCACTGTTGTGACATTTTTATATAAGCAAAATTTGTATAGGAAACAAGTCTTCACTTTTTCTGTTAACATTTATAATTGCAGTTATTTATTCAACTAATAGTCTTTTAATTTTTTTTAATCGAACAATATGAATTATACTGTGAGATGGGCTCCACATTCCAACTATGTAAAATATGTGCTGAAAATGATAAGGATGTAAAGATTGAGCCCTGTGGACACCTCATGTGCACATCCTGTCTTACATCCTGGCAGGTACGGATCTAAACAGCGACTTTTTTCAGCTATGTAATAACCTTGGAAAATTCGGTATTATATAGCCTTTACTGATACAAGGGGTGGCCTGGCTTTTGGGGTTAGGTTTAAACTTTTACTTTTTTTTGATCTCTAGGAAATGTATTTTCTAGTAGATTAATATTTTAAGTATTTTCAGATGCATCTGTTACTATCTTTTGCTTCTTCTGCAGGAATCAGAAGGTCAGGGCTGTCCTTTCTGCCGATGTGAAATTAAAGGTACTGAACCCATCGTGGTAGATCCGTTTGATCCTAGAGGGAGTGGCAGCCTGTTGAGGCAAGGAGCAGAGGGAGCTCCCTCCCCAAATTATGATGATGATGATGATGAACGAGCTGATGATACTCTCTTCATGATGAAGGAATTGGCTGGTGCCAAGGTAAGATGGCAGTTTAGGAGACTGGCAAAATCCATTGTGAGTTGTCTTCTAAAGCCGTAAAACACTTAACGATATCCAAACTACAATGATAGGTAGTATTAATAGCTAATATTTATTGAGCATTTACTATATGACAGATATTGTGTTAAGCACTTTACTTGTTTTTTACTCAATCTTTACTACAGCCCTATGAGTACATACTACTATTATCCTTATTTAACAGATGAAGAAACTGAGGCACAAAGAGGTTAAGGAATTTGCCGAAGACCACACAGCTAGTAGGTTGAAGCATCTGTGAGCTGCATCTATGACCAGGCATTCCAGCTTAAGGCCCATGTTCTTACTGTCTGTATTTTTTAGGACTAAGACTTTATTCATATCTGTTGGTGGAGAATATGAGGGAGAAATAAAAGAACTGGACCCTCTTTTGCTAATGCAACTAGAATAAGTTCTGTTCCCTTTTTTTTTTTTTATTTTAATGGAGTCTTGGCATTAGAAGGTTGGGGCTGGGCATGCCCATAGCTCATGCCTATAATCCCAGTACTTTGGGACGTTGAGGCTGGAGGATCAGTTGAGCCCAGTTTGAGGCCAGCCTTGGCAATATAGTGAGACCCTATCTCTACCCCTGACTCCAAAACAAAACAAAAAAAAGCTGGGTATGGTGTTGTGCACCTGTAGTTCTAACTACTCTGGAGGCCAAGGCTGGAGGATCAGTTGAGCCCAGCAATTCGACATAGCAAGACCGTATCTTTACCACCACTGCCCCCATGCCCCCCCCTAAAAAAAAAAATAGCTGGGCATGATGGTGTACGCCTGTAGTTCTAACTAGTCTGGAGACTGAGACGGGAGGATTGCTTGATCCCAGGAATTCAAGGCGGGAGTGAGTTGTGATTGTACCACTGCACTCTAGGTTGGGTGACAGAGCGAGACCCTGTCTCATAAATAAATAGTAATTGTATACAATGTGTAGTGTGACTTATTTCTGTAAAAAAATTTTTTTAAGCATATACGTAGAAAAACTGGATGACTACATACCAAACTAATCACTGTTATTTCTGAGGATAGGAATTCAGAGCACTTAAATTCTGTGGAATATTTGAATTTTTTACAATTAATGCATATTACTTTTTCAAAGTGTTTGTTGTGCTAGATGGTTGAGTGCTATATGGGATAAGAAGTCTAAGACAAGGCTTTCAAGGAGCTAATTGTTTTATTTAGGAAAAGGACATATGTGCAGGTGAAACACTTCAACACAAGGCAGACAGTGAACATTGTTCCAAATTGTTGGGTACACTATAAGTCGGATAGGAGTTTAGAGGAAAGAAGTAAAGGAACACACTTTCCCTAGCCATGTAGAAATGTAAACAGAAAAAAAACCAGCCTCATGTATTTTGTCATTTGGCCATTCCATAATTTATTTTGTCTTCCTTTTAATGAACATTCATATTGTTTGCAGGCTTACGTATATTGGCCTGCTTTTACAAGTCTGTCTAGGNNNN | pathogenic | 189,205 |
A genetic variant at chromosome 11, position 119278316, affecting gene CBL (Cbl proto-oncogene)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTTATTTAACTAGTCGGCATTCAAGTGATTCAATGTTCCTAATAGCCATAGGCCTCAGTGGCCTTCATCTGCTTTCATCCTCACTTCGCTTTTGTTCAGCAGCATTTCTTCAGGCCTTGGGCTACTGTAACCTATGCTGCTATTTATAACTAAGTCCTTATTTATTCCAGAATTGCTATTCCTTTGAGAATTCAAATTAATTATCAGTTGGTAAACACTTAAAAATACTAACAGTTGACCAGATGGCAGAAAACTAGCTTGTGTTTTGAAGTGATTAGGAAAATACATTTTATATTATACATTATCTTTTACTTACAATAGCATTGGGACTGAAAGGAGTGCTGCCCCAAATGTCAGAACAGTTTGATGCTAGAAACTGTGGATCTCCCTGGTAGATGATCTCAGTAGCTTAATTTGCATATTGTTACATTGCTTTTAAATTGGTGTCTCTCATTTTCTTAAACCTGTAAACCTTCTTTGATCAAAAGCAAATGCAGTTTAAACTAAGAAGTTAAGCCGGGTGCAGTGGTTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTGTACTAAAAGTACAAAAAGTTAGCCGGACGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCGGAGGTTTCAGTGAGCCAAGATCACTCACTGCAACCTCAAAAAAAAAATAAGAATCTGTCGCGCACACACACACACACACACACACACACACATAAAGAATTTCTATCTGGTGGCCATCCATTGATTAAAAATGGGTTGGTAAACTGTGACCCATGGGCCACCTGTTTGTTCCCCCGGGGAGCCAAGATAGCTTTTCCTAAGAGTCGTTTTGAAAAAAACAATCAGAGAAGAATATGTGACACAGACTAATGTGGCCTACAAATCCTAAATGATTTTCTATCTGGCCCTTTACAGAAAAGCTTGCTAACCAACCCCTTGATTAAAAGATAGAGCCTATGGCATTGTTACCTGGAGAAGGAATAATAGTTTTTGGAGAATATCTTTAAACTGTTCTGTGTTTTTTATTTTTTTGAAGTATTATTTTTTGGAAGTATTTTTTTTTTGAAGTAAGATTGATCTTTATACTTACACCACGTTGCCCTTTTAGAATGGAGAAACTCCCAGATTCCATTTGTCTATATTAGCAAGCACTGGCAAATTGGCTTAAATAAAACCCAGGGTTGGTTACTCTTTACAGCTATTTGTTTCCTGATGGACGAAATCAGAATCCTGATCTGACTGGCTTATGTGAACCAACTCCCCAAGACCATATCAAAGTGACCCAGGTGAGTTTTGTTTCACATGATAACCATATCACTGGACACAAGCTTTAGTATATTCTTTATAGAACTGACAGCATAATTGAATTCATTGGAACCCATTGACTAGATTAGTGAATTTGTGTGTATGTGGTTTCACTTTAAACCCTGGAGCTTAAAATAGGACCCAGACTAGATGCTTTCTGGTTTAATAAAAAATAAACCACTGTTGTGACATTTTTATATAAGCAAAATTTGTATAGGAAACAAGTCTTCACTTTTTCTGTTAACATTTATAATTGCAGTTATTTATTCAACTAATAGTCTTTTAATTTTTTTTAATCAAAGGAACAATATGAATTATACTGTGAGATGGGCTCCACATTCCAACTATGTAAAATATGTGCTGAAAATGATAAGGATGTAAAGATTGAGCCCTGTGGACACCTCATGTGCACATCCTGTCTTACATCCTGGCAGGTACGGATCTAAACAGCGACTTTTTTCAGCTATGTAATAACCTTGGAAAATTCGGTATTATATAGCCTTTACTGATACAAGGGGTGGCCTGGCTTTTGGGGTTAGGTTTAAACTTTTACTTTTTTTTGATCTCTAGGAAATGTATTTTCTAGTAGATTAATATTTTAAGTATTTTCAGATGCATCTGTTACTATCTTTTGCTTCTTCTGCAGGAATCAGAAGGTCAGGGCTGTCCTTTCTGCCGATGTGAAATTAAAGGTACTGAACCCATCGTGGTAGATCCGTTTGATCCTAGAGGGAGTGGCAGCCTGTTGAGGCAAGGAGCAGAGGGAGCTCCCTCCCCAAATTATGATGATGATGATGATGAACGAGCTGATGATACTCTCTTCATGATGAAGGAATTGGCTGGTGCCAAGGTAAGATGGCAGTTTAGGAGACTGGCAAAATCCATTGTGAGTTGTCTTCTAAAGCCGTAAAACACTTAACGATATCCAAACTACAATGATAGGTAGTATTAATAGCTAATATTTATTGAGCATTTACTATATGACAGATATTGTGTTAAGCACTTTACTTGTTTTTTACTCAATCTTTACTACAGCCCTATGAGTACATACTACTATTATCCTTATTTAACAGATGAAGAAACTGAGGCACAAAGAGGTTAAGGAATTTGCCGAAGACCACACAGCTAGTAGGTTGAAGCATCTGTGAGCTGCATCTATGACCAGGCATTCCAGCTTAAGGCCCATGTTCTTACTGTCTGTATTTTTTAGGACTAAGACTTTATTCATATCTGTTGGTGGAGAATATGAGGGAGAAATAAAAGAACTGGACCCTCTTTTGCTAATGCAACTAGAATAAGTTCTGTTCCCTTTTTTTTTTTTTATTTTAATGGAGTCTTGGCATTAGAAGGTTGGGGCTGGGCATGCCCATAGCTCATGCCTATAATCCCAGTACTTTGGGACGTTGAGGCTGGAGGATCAGTTGAGCCCAGTTTGAGGCCAGCCTTGGCAATATAGTGAGACCCTATCTCTACCCCTGACTCCAAAACAAAACAAAAAAAAGCTGGGTATGGTGTTGTGCACCTGTAGTTCTAACTACTCTGGAGGCCAAGGCTGGAGGATCAGTTGAGCCCAGCAATTCGACATAGCAAGACCGTATCTTTACCACCACTGCCCCCATGCCCCCCCCTAAAAAAAAAAATAGCTGGGCATGATGGTGTACGCCTGTAGTTCTAACTAGTCTGGAGACTGAGACGGGAGGATTGCTTGATCCCAGGAATTCAAGGCGGGAGTGAGTTGTGATTGTACCACTGCACTCTAGGTTGGGTGACAGAGCGAGACCCTGTCTCATAAATAAATAGTAATTGTATACAATGTGTAGTGTGACTTATTTCTGTAAAAAAATTTTTTTAAGCATATACGTAGAAAAACTGGATGACTACATACCAAACTAATCACTGTTATTTCTGAGGATAGGAATTCAGAGCACTTAAATTCTGTGGAATATTTGAATTTTTTACAATTAATGCATATTACTTTTTCAAAGTGTTTGTTGTGCTAGATGGTTGAGTGCTATATGGGATAAGAAGTCTAAGACAAGGCTTTCAAGGAGCTAATTGTTTTATTTAGGAAAAGGACATATGTGCAGGTGAAACACTTCAACACAAGGCAGACAGTGAACATTGTTCCAAATTGTTGGGTACACTATAAGTCGGATAGGAGTTTAGAGGAAAGAAGTAAAGGAACACACTTTCCCTAGCCATGTAGAAATGTAAACAGAAAAAAAACCAGCCTCATGTATTTTGTCATTTGGCCATTCCATAATTTATTTTGTCTTCCTTTTAATGAACATTCATATTGTTTGCAGGCTTACGTATATTGGCCTGCTTTTACAAGTCTGTCTAGGCTAGCAGTGGGATTGCTGCATAAGGGAGTGTGTATTTCAACTGTGATAGAGGGGAGGTTATAATTAACAGAGGGGCTTATGGGAATATCACAGTGATAATGGTATTTTGTTTTTTAGCTGGATGGTAGGTAAGTATATGGATGTTTTATTCCTTG | TTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTTATTTAACTAGTCGGCATTCAAGTGATTCAATGTTCCTAATAGCCATAGGCCTCAGTGGCCTTCATCTGCTTTCATCCTCACTTCGCTTTTGTTCAGCAGCATTTCTTCAGGCCTTGGGCTACTGTAACCTATGCTGCTATTTATAACTAAGTCCTTATTTATTCCAGAATTGCTATTCCTTTGAGAATTCAAATTAATTATCAGTTGGTAAACACTTAAAAATACTAACAGTTGACCAGATGGCAGAAAACTAGCTTGTGTTTTGAAGTGATTAGGAAAATACATTTTATATTATACATTATCTTTTACTTACAATAGCATTGGGACTGAAAGGAGTGCTGCCCCAAATGTCAGAACAGTTTGATGCTAGAAACTGTGGATCTCCCTGGTAGATGATCTCAGTAGCTTAATTTGCATATTGTTACATTGCTTTTAAATTGGTGTCTCTCATTTTCTTAAACCTGTAAACCTTCTTTGATCAAAAGCAAATGCAGTTTAAACTAAGAAGTTAAGCCGGGTGCAGTGGTTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTGTACTAAAAGTACAAAAAGTTAGCCGGACGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCGGAGGTTTCAGTGAGCCAAGATCACTCACTGCAACCTCAAAAAAAAAATAAGAATCTGTCGCGCACACACACACACACACACACACACACACATAAAGAATTTCTATCTGGTGGCCATCCATTGATTAAAAATGGGTTGGTAAACTGTGACCCATGGGCCACCTGTTTGTTCCCCCGGGGAGCCAAGATAGCTTTTCCTAAGAGTCGTTTTGAAAAAAACAATCAGAGAAGAATATGTGACACAGACTAATGTGGCCTACAAATCCTAAATGATTTTCTATCTGGCCCTTTACAGAAAAGCTTGCTAACCAACCCCTTGATTAAAAGATAGAGCCTATGGCATTGTTACCTGGAGAAGGAATAATAGTTTTTGGAGAATATCTTTAAACTGTTCTGTGTTTTTTATTTTTTTGAAGTATTATTTTTTGGAAGTATTTTTTTTTTGAAGTAAGATTGATCTTTATACTTACACCACGTTGCCCTTTTAGAATGGAGAAACTCCCAGATTCCATTTGTCTATATTAGCAAGCACTGGCAAATTGGCTTAAATAAAACCCAGGGTTGGTTACTCTTTACAGCTATTTGTTTCCTGATGGACGAAATCAGAATCCTGATCTGACTGGCTTATGTGAACCAACTCCCCAAGACCATATCAAAGTGACCCAGGTGAGTTTTGTTTCACATGATAACCATATCACTGGACACAAGCTTTAGTATATTCTTTATAGAACTGACAGCATAATTGAATTCATTGGAACCCATTGACTAGATTAGTGAATTTGTGTGTATGTGGTTTCACTTTAAACCCTGGAGCTTAAAATAGGACCCAGACTAGATGCTTTCTGGTTTAATAAAAAATAAACCACTGTTGTGACATTTTTATATAAGCAAAATTTGTATAGGAAACAAGTCTTCACTTTTTCTGTTAACATTTATAATTGCAGTTATTTATTCAACTAATAGTCTTTTAATTTTTTTTAATCAAAGGAACAATATGAATTATACTGTGAGATGGGCTCCACATTCCAACTATGTAAAATATGTGCTGAAAATGATAAGGATGTAAAGATTGAGCCCTGTGGACACCTCATGTGCACATCCTGTCTTACATCCTGGCAGGTACGGATCTAAACAGCGACCTTTTTTCAGCTATGTAATAACCTTGGAAAATTCGGTATTATATAGCCTTTACTGATACAAGGGGTGGCCTGGCTTTTGGGGTTAGGTTTAAACTTTTACTTTTTTTTGATCTCTAGGAAATGTATTTTCTAGTAGATTAATATTTTAAGTATTTTCAGATGCATCTGTTACTATCTTTTGCTTCTTCTGCAGGAATCAGAAGGTCAGGGCTGTCCTTTCTGCCGATGTGAAATTAAAGGTACTGAACCCATCGTGGTAGATCCGTTTGATCCTAGAGGGAGTGGCAGCCTGTTGAGGCAAGGAGCAGAGGGAGCTCCCTCCCCAAATTATGATGATGATGATGATGAACGAGCTGATGATACTCTCTTCATGATGAAGGAATTGGCTGGTGCCAAGGTAAGATGGCAGTTTAGGAGACTGGCAAAATCCATTGTGAGTTGTCTTCTAAAGCCGTAAAACACTTAACGATATCCAAACTACAATGATAGGTAGTATTAATAGCTAATATTTATTGAGCATTTACTATATGACAGATATTGTGTTAAGCACTTTACTTGTTTTTTACTCAATCTTTACTACAGCCCTATGAGTACATACTACTATTATCCTTATTTAACAGATGAAGAAACTGAGGCACAAAGAGGTTAAGGAATTTGCCGAAGACCACACAGCTAGTAGGTTGAAGCATCTGTGAGCTGCATCTATGACCAGGCATTCCAGCTTAAGGCCCATGTTCTTACTGTCTGTATTTTTTAGGACTAAGACTTTATTCATATCTGTTGGTGGAGAATATGAGGGAGAAATAAAAGAACTGGACCCTCTTTTGCTAATGCAACTAGAATAAGTTCTGTTCCCTTTTTTTTTTTTTATTTTAATGGAGTCTTGGCATTAGAAGGTTGGGGCTGGGCATGCCCATAGCTCATGCCTATAATCCCAGTACTTTGGGACGTTGAGGCTGGAGGATCAGTTGAGCCCAGTTTGAGGCCAGCCTTGGCAATATAGTGAGACCCTATCTCTACCCCTGACTCCAAAACAAAACAAAAAAAAGCTGGGTATGGTGTTGTGCACCTGTAGTTCTAACTACTCTGGAGGCCAAGGCTGGAGGATCAGTTGAGCCCAGCAATTCGACATAGCAAGACCGTATCTTTACCACCACTGCCCCCATGCCCCCCCCTAAAAAAAAAAATAGCTGGGCATGATGGTGTACGCCTGTAGTTCTAACTAGTCTGGAGACTGAGACGGGAGGATTGCTTGATCCCAGGAATTCAAGGCGGGAGTGAGTTGTGATTGTACCACTGCACTCTAGGTTGGGTGACAGAGCGAGACCCTGTCTCATAAATAAATAGTAATTGTATACAATGTGTAGTGTGACTTATTTCTGTAAAAAAATTTTTTTAAGCATATACGTAGAAAAACTGGATGACTACATACCAAACTAATCACTGTTATTTCTGAGGATAGGAATTCAGAGCACTTAAATTCTGTGGAATATTTGAATTTTTTACAATTAATGCATATTACTTTTTCAAAGTGTTTGTTGTGCTAGATGGTTGAGTGCTATATGGGATAAGAAGTCTAAGACAAGGCTTTCAAGGAGCTAATTGTTTTATTTAGGAAAAGGACATATGTGCAGGTGAAACACTTCAACACAAGGCAGACAGTGAACATTGTTCCAAATTGTTGGGTACACTATAAGTCGGATAGGAGTTTAGAGGAAAGAAGTAAAGGAACACACTTTCCCTAGCCATGTAGAAATGTAAACAGAAAAAAAACCAGCCTCATGTATTTTGTCATTTGGCCATTCCATAATTTATTTTGTCTTCCTTTTAATGAACATTCATATTGTTTGCAGGCTTACGTATATTGGCCTGCTTTTACAAGTCTGTCTAGGCTAGCAGTGGGATTGCTGCATAAGGGAGTGTGTATTTCAACTGTGATAGAGGGGAGGTTATAATTAACAGAGGGGCTTATGGGAATATCACAGTGATAATGGTATTTTGTTTTTTAGCTGGATGGTAGGTAAGTATATGGATGTTTTATTCCTT | benign | 189,226 |
Located at chromosome 11 position 119278487, the variant affecting gene CBL (Cbl proto-oncogene)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | AAATTTGACCAGTTATTTAACTAGTCGGCATTCAAGTGATTCAATGTTCCTAATAGCCATAGGCCTCAGTGGCCTTCATCTGCTTTCATCCTCACTTCGCTTTTGTTCAGCAGCATTTCTTCAGGCCTTGGGCTACTGTAACCTATGCTGCTATTTATAACTAAGTCCTTATTTATTCCAGAATTGCTATTCCTTTGAGAATTCAAATTAATTATCAGTTGGTAAACACTTAAAAATACTAACAGTTGACCAGATGGCAGAAAACTAGCTTGTGTTTTGAAGTGATTAGGAAAATACATTTTATATTATACATTATCTTTTACTTACAATAGCATTGGGACTGAAAGGAGTGCTGCCCCAAATGTCAGAACAGTTTGATGCTAGAAACTGTGGATCTCCCTGGTAGATGATCTCAGTAGCTTAATTTGCATATTGTTACATTGCTTTTAAATTGGTGTCTCTCATTTTCTTAAACCTGTAAACCTTCTTTGATCAAAAGCAAATGCAGTTTAAACTAAGAAGTTAAGCCGGGTGCAGTGGTTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTGTACTAAAAGTACAAAAAGTTAGCCGGACGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCGGAGGTTTCAGTGAGCCAAGATCACTCACTGCAACCTCAAAAAAAAAATAAGAATCTGTCGCGCACACACACACACACACACACACACACACATAAAGAATTTCTATCTGGTGGCCATCCATTGATTAAAAATGGGTTGGTAAACTGTGACCCATGGGCCACCTGTTTGTTCCCCCGGGGAGCCAAGATAGCTTTTCCTAAGAGTCGTTTTGAAAAAAACAATCAGAGAAGAATATGTGACACAGACTAATGTGGCCTACAAATCCTAAATGATTTTCTATCTGGCCCTTTACAGAAAAGCTTGCTAACCAACCCCTTGATTAAAAGATAGAGCCTATGGCATTGTTACCTGGAGAAGGAATAATAGTTTTTGGAGAATATCTTTAAACTGTTCTGTGTTTTTTATTTTTTTGAAGTATTATTTTTTGGAAGTATTTTTTTTTTGAAGTAAGATTGATCTTTATACTTACACCACGTTGCCCTTTTAGAATGGAGAAACTCCCAGATTCCATTTGTCTATATTAGCAAGCACTGGCAAATTGGCTTAAATAAAACCCAGGGTTGGTTACTCTTTACAGCTATTTGTTTCCTGATGGACGAAATCAGAATCCTGATCTGACTGGCTTATGTGAACCAACTCCCCAAGACCATATCAAAGTGACCCAGGTGAGTTTTGTTTCACATGATAACCATATCACTGGACACAAGCTTTAGTATATTCTTTATAGAACTGACAGCATAATTGAATTCATTGGAACCCATTGACTAGATTAGTGAATTTGTGTGTATGTGGTTTCACTTTAAACCCTGGAGCTTAAAATAGGACCCAGACTAGATGCTTTCTGGTTTAATAAAAAATAAACCACTGTTGTGACATTTTTATATAAGCAAAATTTGTATAGGAAACAAGTCTTCACTTTTTCTGTTAACATTTATAATTGCAGTTATTTATTCAACTAATAGTCTTTTAATTTTTTTTAATCAAAGGAACAATATGAATTATACTGTGAGATGGGCTCCACATTCCAACTATGTAAAATATGTGCTGAAAATGATAAGGATGTAAAGATTGAGCCCTGTGGACACCTCATGTGCACATCCTGTCTTACATCCTGGCAGGTACGGATCTAAACAGCGACTTTTTTCAGCTATGTAATAACCTTGGAAAATTCGGTATTATATAGCCTTTACTGATACAAGGGGTGGCCTGGCTTTTGGGGTTAGGTTTAAACTTTTACTTTTTTTTGATCTCTAGGAAATGTATTTTCTAGTAGATTAATATTTTAAGTATTTTCAGATGCATCTGTTACTATCTTTTGCTTCTTCTGCAGGAATCAGAAGGTCAGGGCTGTCCTTTCTGCCGATGTGAAATTAAAGGTACTGAACCCATCGTGGTAGATCCGTTTGATCCTAGAGGGAGTGGCAGCCTGTTGAGGCAAGGAGCAGAGGGAGCTCCCTCCCCAAATTATGATGATGATGATGATGAACGAGCTGATGATACTCTCTTCATGATGAAGGAATTGGCTGGTGCCAAGGTAAGATGGCAGTTTAGGAGACTGGCAAAATCCATTGTGAGTTGTCTTCTAAAGCCGTAAAACACTTAACGATATCCAAACTACAATGATAGGTAGTATTAATAGCTAATATTTATTGAGCATTTACTATATGACAGATATTGTGTTAAGCACTTTACTTGTTTTTTACTCAATCTTTACTACAGCCCTATGAGTACATACTACTATTATCCTTATTTAACAGATGAAGAAACTGAGGCACAAAGAGGTTAAGGAATTTGCCGAAGACCACACAGCTAGTAGGTTGAAGCATCTGTGAGCTGCATCTATGACCAGGCATTCCAGCTTAAGGCCCATGTTCTTACTGTCTGTATTTTTTAGGACTAAGACTTTATTCATATCTGTTGGTGGAGAATATGAGGGAGAAATAAAAGAACTGGACCCTCTTTTGCTAATGCAACTAGAATAAGTTCTGTTCCCTTTTTTTTTTTTTATTTTAATGGAGTCTTGGCATTAGAAGGTTGGGGCTGGGCATGCCCATAGCTCATGCCTATAATCCCAGTACTTTGGGACGTTGAGGCTGGAGGATCAGTTGAGCCCAGTTTGAGGCCAGCCTTGGCAATATAGTGAGACCCTATCTCTACCCCTGACTCCAAAACAAAACAAAAAAAAGCTGGGTATGGTGTTGTGCACCTGTAGTTCTAACTACTCTGGAGGCCAAGGCTGGAGGATCAGTTGAGCCCAGCAATTCGACATAGCAAGACCGTATCTTTACCACCACTGCCCCCATGCCCCCCCCTAAAAAAAAAAATAGCTGGGCATGATGGTGTACGCCTGTAGTTCTAACTAGTCTGGAGACTGAGACGGGAGGATTGCTTGATCCCAGGAATTCAAGGCGGGAGTGAGTTGTGATTGTACCACTGCACTCTAGGTTGGGTGACAGAGCGAGACCCTGTCTCATAAATAAATAGTAATTGTATACAATGTGTAGTGTGACTTATTTCTGTAAAAAAATTTTTTTAAGCATATACGTAGAAAAACTGGATGACTACATACCAAACTAATCACTGTTATTTCTGAGGATAGGAATTCAGAGCACTTAAATTCTGTGGAATATTTGAATTTTTTACAATTAATGCATATTACTTTTTCAAAGTGTTTGTTGTGCTAGATGGTTGAGTGCTATATGGGATAAGAAGTCTAAGACAAGGCTTTCAAGGAGCTAATTGTTTTATTTAGGAAAAGGACATATGTGCAGGTGAAACACTTCAACACAAGGCAGACAGTGAACATTGTTCCAAATTGTTGGGTACACTATAAGTCGGATAGGAGTTTAGAGGAAAGAAGTAAAGGAACACACTTTCCCTAGCCATGTAGAAATGTAAACAGAAAAAAAACCAGCCTCATGTATTTTGTCATTTGGCCATTCCATAATTTATTTTGTCTTCCTTTTAATGAACATTCATATTGTTTGCAGGCTTACGTATATTGGCCTGCTTTTACAAGTCTGTCTAGGCTAGCAGTGGGATTGCTGCATAAGGGAGTGTGTATTTCAACTGTGATAGAGGGGAGGTTATAATTAACAGAGGGGCTTATGGGAATATCACAGTGATAATGGTATTTTGTTTTTTAGCTGGATGGTAGGTAAGTATATGGATGTTTTATTCCTTGTACTTTATAGTTCATTATATATTTTGTATGAGTAAAATAATTTGAGTGAAAATATTTAACTTTTGGTTAGTTATTAAAGTTTATCCCCCTTTTTTGGTCTTGAAATCACTCTTGAAGGTATGGAAAAGAATGAGAATGCCTGTTTCTTCACATCCTGGTAGATGTTGTTTG | AAATTTGACCAGTTATTTAACTAGTCGGCATTCAAGTGATTCAATGTTCCTAATAGCCATAGGCCTCAGTGGCCTTCATCTGCTTTCATCCTCACTTCGCTTTTGTTCAGCAGCATTTCTTCAGGCCTTGGGCTACTGTAACCTATGCTGCTATTTATAACTAAGTCCTTATTTATTCCAGAATTGCTATTCCTTTGAGAATTCAAATTAATTATCAGTTGGTAAACACTTAAAAATACTAACAGTTGACCAGATGGCAGAAAACTAGCTTGTGTTTTGAAGTGATTAGGAAAATACATTTTATATTATACATTATCTTTTACTTACAATAGCATTGGGACTGAAAGGAGTGCTGCCCCAAATGTCAGAACAGTTTGATGCTAGAAACTGTGGATCTCCCTGGTAGATGATCTCAGTAGCTTAATTTGCATATTGTTACATTGCTTTTAAATTGGTGTCTCTCATTTTCTTAAACCTGTAAACCTTCTTTGATCAAAAGCAAATGCAGTTTAAACTAAGAAGTTAAGCCGGGTGCAGTGGTTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTGTACTAAAAGTACAAAAAGTTAGCCGGACGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCGGAGGTTTCAGTGAGCCAAGATCACTCACTGCAACCTCAAAAAAAAAATAAGAATCTGTCGCGCACACACACACACACACACACACACACACATAAAGAATTTCTATCTGGTGGCCATCCATTGATTAAAAATGGGTTGGTAAACTGTGACCCATGGGCCACCTGTTTGTTCCCCCGGGGAGCCAAGATAGCTTTTCCTAAGAGTCGTTTTGAAAAAAACAATCAGAGAAGAATATGTGACACAGACTAATGTGGCCTACAAATCCTAAATGATTTTCTATCTGGCCCTTTACAGAAAAGCTTGCTAACCAACCCCTTGATTAAAAGATAGAGCCTATGGCATTGTTACCTGGAGAAGGAATAATAGTTTTTGGAGAATATCTTTAAACTGTTCTGTGTTTTTTATTTTTTTGAAGTATTATTTTTTGGAAGTATTTTTTTTTTGAAGTAAGATTGATCTTTATACTTACACCACGTTGCCCTTTTAGAATGGAGAAACTCCCAGATTCCATTTGTCTATATTAGCAAGCACTGGCAAATTGGCTTAAATAAAACCCAGGGTTGGTTACTCTTTACAGCTATTTGTTTCCTGATGGACGAAATCAGAATCCTGATCTGACTGGCTTATGTGAACCAACTCCCCAAGACCATATCAAAGTGACCCAGGTGAGTTTTGTTTCACATGATAACCATATCACTGGACACAAGCTTTAGTATATTCTTTATAGAACTGACAGCATAATTGAATTCATTGGAACCCATTGACTAGATTAGTGAATTTGTGTGTATGTGGTTTCACTTTAAACCCTGGAGCTTAAAATAGGACCCAGACTAGATGCTTTCTGGTTTAATAAAAAATAAACCACTGTTGTGACATTTTTATATAAGCAAAATTTGTATAGGAAACAAGTCTTCACTTTTTCTGTTAACATTTATAATTGCAGTTATTTATTCAACTAATAGTCTTTTAATTTTTTTTAATCAAAGGAACAATATGAATTATACTGTGAGATGGGCTCCACATTCCAACTATGTAAAATATGTGCTGAAAATGATAAGGATGTAAAGATTGAGCCCTGTGGACACCTCATGTGCACATCCTGTCTTACATCCTGGCAGGTACGGATCTAAACAGCGACTTTTTTCAGCTATGTAATAACCTTGGAAAATTCGGTATTATATAGCCTTTACTGATACAAGGGGTGGCCTGGCTTTTGGGGTTAGGTTTAAACTTTTACTTTTTTTTGATCTCTAGGAAATGTATTTTCTAGTAGATTAATATTTTAAGTATTTTCAGATGCATCTGTTACTTTTGCTTCTTCTGCAGGAATCAGAAGGTCAGGGCTGTCCTTTCTGCCGATGTGAAATTAAAGGTACTGAACCCATCGTGGTAGATCCGTTTGATCCTAGAGGGAGTGGCAGCCTGTTGAGGCAAGGAGCAGAGGGAGCTCCCTCCCCAAATTATGATGATGATGATGATGAACGAGCTGATGATACTCTCTTCATGATGAAGGAATTGGCTGGTGCCAAGGTAAGATGGCAGTTTAGGAGACTGGCAAAATCCATTGTGAGTTGTCTTCTAAAGCCGTAAAACACTTAACGATATCCAAACTACAATGATAGGTAGTATTAATAGCTAATATTTATTGAGCATTTACTATATGACAGATATTGTGTTAAGCACTTTACTTGTTTTTTACTCAATCTTTACTACAGCCCTATGAGTACATACTACTATTATCCTTATTTAACAGATGAAGAAACTGAGGCACAAAGAGGTTAAGGAATTTGCCGAAGACCACACAGCTAGTAGGTTGAAGCATCTGTGAGCTGCATCTATGACCAGGCATTCCAGCTTAAGGCCCATGTTCTTACTGTCTGTATTTTTTAGGACTAAGACTTTATTCATATCTGTTGGTGGAGAATATGAGGGAGAAATAAAAGAACTGGACCCTCTTTTGCTAATGCAACTAGAATAAGTTCTGTTCCCTTTTTTTTTTTTTATTTTAATGGAGTCTTGGCATTAGAAGGTTGGGGCTGGGCATGCCCATAGCTCATGCCTATAATCCCAGTACTTTGGGACGTTGAGGCTGGAGGATCAGTTGAGCCCAGTTTGAGGCCAGCCTTGGCAATATAGTGAGACCCTATCTCTACCCCTGACTCCAAAACAAAACAAAAAAAAGCTGGGTATGGTGTTGTGCACCTGTAGTTCTAACTACTCTGGAGGCCAAGGCTGGAGGATCAGTTGAGCCCAGCAATTCGACATAGCAAGACCGTATCTTTACCACCACTGCCCCCATGCCCCCCCCTAAAAAAAAAAATAGCTGGGCATGATGGTGTACGCCTGTAGTTCTAACTAGTCTGGAGACTGAGACGGGAGGATTGCTTGATCCCAGGAATTCAAGGCGGGAGTGAGTTGTGATTGTACCACTGCACTCTAGGTTGGGTGACAGAGCGAGACCCTGTCTCATAAATAAATAGTAATTGTATACAATGTGTAGTGTGACTTATTTCTGTAAAAAAATTTTTTTAAGCATATACGTAGAAAAACTGGATGACTACATACCAAACTAATCACTGTTATTTCTGAGGATAGGAATTCAGAGCACTTAAATTCTGTGGAATATTTGAATTTTTTACAATTAATGCATATTACTTTTTCAAAGTGTTTGTTGTGCTAGATGGTTGAGTGCTATATGGGATAAGAAGTCTAAGACAAGGCTTTCAAGGAGCTAATTGTTTTATTTAGGAAAAGGACATATGTGCAGGTGAAACACTTCAACACAAGGCAGACAGTGAACATTGTTCCAAATTGTTGGGTACACTATAAGTCGGATAGGAGTTTAGAGGAAAGAAGTAAAGGAACACACTTTCCCTAGCCATGTAGAAATGTAAACAGAAAAAAAACCAGCCTCATGTATTTTGTCATTTGGCCATTCCATAATTTATTTTGTCTTCCTTTTAATGAACATTCATATTGTTTGCAGGCTTACGTATATTGGCCTGCTTTTACAAGTCTGTCTAGGCTAGCAGTGGGATTGCTGCATAAGGGAGTGTGTATTTCAACTGTGATAGAGGGGAGGTTATAATTAACAGAGGGGCTTATGGGAATATCACAGTGATAATGGTATTTTGTTTTTTAGCTGGATGGTAGGTAAGTATATGGATGTTTTATTCCTTGTACTTTATAGTTCATTATATATTTTGTATGAGTAAAATAATTTGAGTGAAAATATTTAACTTTTGGTTAGTTATTAAAGTTTATCCCCCTTTTTTGGTCTTGAAATCACTCTTGAAGGTATGGAAAAGAATGAGAATGCCTGTTTCTTCACATCCTGGTAGATGTTGTTTGNNNN | benign | 189,227 |
Is the variant located on chromosome 11 at position 119278498, gene CBL (Cbl proto-oncogene), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GTTATTTAACTAGTCGGCATTCAAGTGATTCAATGTTCCTAATAGCCATAGGCCTCAGTGGCCTTCATCTGCTTTCATCCTCACTTCGCTTTTGTTCAGCAGCATTTCTTCAGGCCTTGGGCTACTGTAACCTATGCTGCTATTTATAACTAAGTCCTTATTTATTCCAGAATTGCTATTCCTTTGAGAATTCAAATTAATTATCAGTTGGTAAACACTTAAAAATACTAACAGTTGACCAGATGGCAGAAAACTAGCTTGTGTTTTGAAGTGATTAGGAAAATACATTTTATATTATACATTATCTTTTACTTACAATAGCATTGGGACTGAAAGGAGTGCTGCCCCAAATGTCAGAACAGTTTGATGCTAGAAACTGTGGATCTCCCTGGTAGATGATCTCAGTAGCTTAATTTGCATATTGTTACATTGCTTTTAAATTGGTGTCTCTCATTTTCTTAAACCTGTAAACCTTCTTTGATCAAAAGCAAATGCAGTTTAAACTAAGAAGTTAAGCCGGGTGCAGTGGTTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTGTACTAAAAGTACAAAAAGTTAGCCGGACGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCGGAGGTTTCAGTGAGCCAAGATCACTCACTGCAACCTCAAAAAAAAAATAAGAATCTGTCGCGCACACACACACACACACACACACACACACATAAAGAATTTCTATCTGGTGGCCATCCATTGATTAAAAATGGGTTGGTAAACTGTGACCCATGGGCCACCTGTTTGTTCCCCCGGGGAGCCAAGATAGCTTTTCCTAAGAGTCGTTTTGAAAAAAACAATCAGAGAAGAATATGTGACACAGACTAATGTGGCCTACAAATCCTAAATGATTTTCTATCTGGCCCTTTACAGAAAAGCTTGCTAACCAACCCCTTGATTAAAAGATAGAGCCTATGGCATTGTTACCTGGAGAAGGAATAATAGTTTTTGGAGAATATCTTTAAACTGTTCTGTGTTTTTTATTTTTTTGAAGTATTATTTTTTGGAAGTATTTTTTTTTTGAAGTAAGATTGATCTTTATACTTACACCACGTTGCCCTTTTAGAATGGAGAAACTCCCAGATTCCATTTGTCTATATTAGCAAGCACTGGCAAATTGGCTTAAATAAAACCCAGGGTTGGTTACTCTTTACAGCTATTTGTTTCCTGATGGACGAAATCAGAATCCTGATCTGACTGGCTTATGTGAACCAACTCCCCAAGACCATATCAAAGTGACCCAGGTGAGTTTTGTTTCACATGATAACCATATCACTGGACACAAGCTTTAGTATATTCTTTATAGAACTGACAGCATAATTGAATTCATTGGAACCCATTGACTAGATTAGTGAATTTGTGTGTATGTGGTTTCACTTTAAACCCTGGAGCTTAAAATAGGACCCAGACTAGATGCTTTCTGGTTTAATAAAAAATAAACCACTGTTGTGACATTTTTATATAAGCAAAATTTGTATAGGAAACAAGTCTTCACTTTTTCTGTTAACATTTATAATTGCAGTTATTTATTCAACTAATAGTCTTTTAATTTTTTTTAATCAAAGGAACAATATGAATTATACTGTGAGATGGGCTCCACATTCCAACTATGTAAAATATGTGCTGAAAATGATAAGGATGTAAAGATTGAGCCCTGTGGACACCTCATGTGCACATCCTGTCTTACATCCTGGCAGGTACGGATCTAAACAGCGACTTTTTTCAGCTATGTAATAACCTTGGAAAATTCGGTATTATATAGCCTTTACTGATACAAGGGGTGGCCTGGCTTTTGGGGTTAGGTTTAAACTTTTACTTTTTTTTGATCTCTAGGAAATGTATTTTCTAGTAGATTAATATTTTAAGTATTTTCAGATGCATCTGTTACTATCTTTTGCTTCTTCTGCAGGAATCAGAAGGTCAGGGCTGTCCTTTCTGCCGATGTGAAATTAAAGGTACTGAACCCATCGTGGTAGATCCGTTTGATCCTAGAGGGAGTGGCAGCCTGTTGAGGCAAGGAGCAGAGGGAGCTCCCTCCCCAAATTATGATGATGATGATGATGAACGAGCTGATGATACTCTCTTCATGATGAAGGAATTGGCTGGTGCCAAGGTAAGATGGCAGTTTAGGAGACTGGCAAAATCCATTGTGAGTTGTCTTCTAAAGCCGTAAAACACTTAACGATATCCAAACTACAATGATAGGTAGTATTAATAGCTAATATTTATTGAGCATTTACTATATGACAGATATTGTGTTAAGCACTTTACTTGTTTTTTACTCAATCTTTACTACAGCCCTATGAGTACATACTACTATTATCCTTATTTAACAGATGAAGAAACTGAGGCACAAAGAGGTTAAGGAATTTGCCGAAGACCACACAGCTAGTAGGTTGAAGCATCTGTGAGCTGCATCTATGACCAGGCATTCCAGCTTAAGGCCCATGTTCTTACTGTCTGTATTTTTTAGGACTAAGACTTTATTCATATCTGTTGGTGGAGAATATGAGGGAGAAATAAAAGAACTGGACCCTCTTTTGCTAATGCAACTAGAATAAGTTCTGTTCCCTTTTTTTTTTTTTATTTTAATGGAGTCTTGGCATTAGAAGGTTGGGGCTGGGCATGCCCATAGCTCATGCCTATAATCCCAGTACTTTGGGACGTTGAGGCTGGAGGATCAGTTGAGCCCAGTTTGAGGCCAGCCTTGGCAATATAGTGAGACCCTATCTCTACCCCTGACTCCAAAACAAAACAAAAAAAAGCTGGGTATGGTGTTGTGCACCTGTAGTTCTAACTACTCTGGAGGCCAAGGCTGGAGGATCAGTTGAGCCCAGCAATTCGACATAGCAAGACCGTATCTTTACCACCACTGCCCCCATGCCCCCCCCTAAAAAAAAAAATAGCTGGGCATGATGGTGTACGCCTGTAGTTCTAACTAGTCTGGAGACTGAGACGGGAGGATTGCTTGATCCCAGGAATTCAAGGCGGGAGTGAGTTGTGATTGTACCACTGCACTCTAGGTTGGGTGACAGAGCGAGACCCTGTCTCATAAATAAATAGTAATTGTATACAATGTGTAGTGTGACTTATTTCTGTAAAAAAATTTTTTTAAGCATATACGTAGAAAAACTGGATGACTACATACCAAACTAATCACTGTTATTTCTGAGGATAGGAATTCAGAGCACTTAAATTCTGTGGAATATTTGAATTTTTTACAATTAATGCATATTACTTTTTCAAAGTGTTTGTTGTGCTAGATGGTTGAGTGCTATATGGGATAAGAAGTCTAAGACAAGGCTTTCAAGGAGCTAATTGTTTTATTTAGGAAAAGGACATATGTGCAGGTGAAACACTTCAACACAAGGCAGACAGTGAACATTGTTCCAAATTGTTGGGTACACTATAAGTCGGATAGGAGTTTAGAGGAAAGAAGTAAAGGAACACACTTTCCCTAGCCATGTAGAAATGTAAACAGAAAAAAAACCAGCCTCATGTATTTTGTCATTTGGCCATTCCATAATTTATTTTGTCTTCCTTTTAATGAACATTCATATTGTTTGCAGGCTTACGTATATTGGCCTGCTTTTACAAGTCTGTCTAGGCTAGCAGTGGGATTGCTGCATAAGGGAGTGTGTATTTCAACTGTGATAGAGGGGAGGTTATAATTAACAGAGGGGCTTATGGGAATATCACAGTGATAATGGTATTTTGTTTTTTAGCTGGATGGTAGGTAAGTATATGGATGTTTTATTCCTTGTACTTTATAGTTCATTATATATTTTGTATGAGTAAAATAATTTGAGTGAAAATATTTAACTTTTGGTTAGTTATTAAAGTTTATCCCCCTTTTTTGGTCTTGAAATCACTCTTGAAGGTATGGAAAAGAATGAGAATGCCTGTTTCTTCACATCCTGGTAGATGTTGTTTGTTGTTTTATTT | GTTATTTAACTAGTCGGCATTCAAGTGATTCAATGTTCCTAATAGCCATAGGCCTCAGTGGCCTTCATCTGCTTTCATCCTCACTTCGCTTTTGTTCAGCAGCATTTCTTCAGGCCTTGGGCTACTGTAACCTATGCTGCTATTTATAACTAAGTCCTTATTTATTCCAGAATTGCTATTCCTTTGAGAATTCAAATTAATTATCAGTTGGTAAACACTTAAAAATACTAACAGTTGACCAGATGGCAGAAAACTAGCTTGTGTTTTGAAGTGATTAGGAAAATACATTTTATATTATACATTATCTTTTACTTACAATAGCATTGGGACTGAAAGGAGTGCTGCCCCAAATGTCAGAACAGTTTGATGCTAGAAACTGTGGATCTCCCTGGTAGATGATCTCAGTAGCTTAATTTGCATATTGTTACATTGCTTTTAAATTGGTGTCTCTCATTTTCTTAAACCTGTAAACCTTCTTTGATCAAAAGCAAATGCAGTTTAAACTAAGAAGTTAAGCCGGGTGCAGTGGTTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTGTACTAAAAGTACAAAAAGTTAGCCGGACGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCGGAGGTTTCAGTGAGCCAAGATCACTCACTGCAACCTCAAAAAAAAAATAAGAATCTGTCGCGCACACACACACACACACACACACACACACATAAAGAATTTCTATCTGGTGGCCATCCATTGATTAAAAATGGGTTGGTAAACTGTGACCCATGGGCCACCTGTTTGTTCCCCCGGGGAGCCAAGATAGCTTTTCCTAAGAGTCGTTTTGAAAAAAACAATCAGAGAAGAATATGTGACACAGACTAATGTGGCCTACAAATCCTAAATGATTTTCTATCTGGCCCTTTACAGAAAAGCTTGCTAACCAACCCCTTGATTAAAAGATAGAGCCTATGGCATTGTTACCTGGAGAAGGAATAATAGTTTTTGGAGAATATCTTTAAACTGTTCTGTGTTTTTTATTTTTTTGAAGTATTATTTTTTGGAAGTATTTTTTTTTTGAAGTAAGATTGATCTTTATACTTACACCACGTTGCCCTTTTAGAATGGAGAAACTCCCAGATTCCATTTGTCTATATTAGCAAGCACTGGCAAATTGGCTTAAATAAAACCCAGGGTTGGTTACTCTTTACAGCTATTTGTTTCCTGATGGACGAAATCAGAATCCTGATCTGACTGGCTTATGTGAACCAACTCCCCAAGACCATATCAAAGTGACCCAGGTGAGTTTTGTTTCACATGATAACCATATCACTGGACACAAGCTTTAGTATATTCTTTATAGAACTGACAGCATAATTGAATTCATTGGAACCCATTGACTAGATTAGTGAATTTGTGTGTATGTGGTTTCACTTTAAACCCTGGAGCTTAAAATAGGACCCAGACTAGATGCTTTCTGGTTTAATAAAAAATAAACCACTGTTGTGACATTTTTATATAAGCAAAATTTGTATAGGAAACAAGTCTTCACTTTTTCTGTTAACATTTATAATTGCAGTTATTTATTCAACTAATAGTCTTTTAATTTTTTTTAATCAAAGGAACAATATGAATTATACTGTGAGATGGGCTCCACATTCCAACTATGTAAAATATGTGCTGAAAATGATAAGGATGTAAAGATTGAGCCCTGTGGACACCTCATGTGCACATCCTGTCTTACATCCTGGCAGGTACGGATCTAAACAGCGACTTTTTTCAGCTATGTAATAACCTTGGAAAATTCGGTATTATATAGCCTTTACTGATACAAGGGGTGGCCTGGCTTTTGGGGTTAGGTTTAAACTTTTACTTTTTTTTGATCTCTAGGAAATGTATTTTCTAGTAGATTAATATTTTAAGTATTTTCAGATGCATCTGTTACTATCTTTTGCTTTCTTCTGCAGGAATCAGAAGGTCAGGGCTGTCCTTTCTGCCGATGTGAAATTAAAGGTACTGAACCCATCGTGGTAGATCCGTTTGATCCTAGAGGGAGTGGCAGCCTGTTGAGGCAAGGAGCAGAGGGAGCTCCCTCCCCAAATTATGATGATGATGATGATGAACGAGCTGATGATACTCTCTTCATGATGAAGGAATTGGCTGGTGCCAAGGTAAGATGGCAGTTTAGGAGACTGGCAAAATCCATTGTGAGTTGTCTTCTAAAGCCGTAAAACACTTAACGATATCCAAACTACAATGATAGGTAGTATTAATAGCTAATATTTATTGAGCATTTACTATATGACAGATATTGTGTTAAGCACTTTACTTGTTTTTTACTCAATCTTTACTACAGCCCTATGAGTACATACTACTATTATCCTTATTTAACAGATGAAGAAACTGAGGCACAAAGAGGTTAAGGAATTTGCCGAAGACCACACAGCTAGTAGGTTGAAGCATCTGTGAGCTGCATCTATGACCAGGCATTCCAGCTTAAGGCCCATGTTCTTACTGTCTGTATTTTTTAGGACTAAGACTTTATTCATATCTGTTGGTGGAGAATATGAGGGAGAAATAAAAGAACTGGACCCTCTTTTGCTAATGCAACTAGAATAAGTTCTGTTCCCTTTTTTTTTTTTTATTTTAATGGAGTCTTGGCATTAGAAGGTTGGGGCTGGGCATGCCCATAGCTCATGCCTATAATCCCAGTACTTTGGGACGTTGAGGCTGGAGGATCAGTTGAGCCCAGTTTGAGGCCAGCCTTGGCAATATAGTGAGACCCTATCTCTACCCCTGACTCCAAAACAAAACAAAAAAAAGCTGGGTATGGTGTTGTGCACCTGTAGTTCTAACTACTCTGGAGGCCAAGGCTGGAGGATCAGTTGAGCCCAGCAATTCGACATAGCAAGACCGTATCTTTACCACCACTGCCCCCATGCCCCCCCCTAAAAAAAAAAATAGCTGGGCATGATGGTGTACGCCTGTAGTTCTAACTAGTCTGGAGACTGAGACGGGAGGATTGCTTGATCCCAGGAATTCAAGGCGGGAGTGAGTTGTGATTGTACCACTGCACTCTAGGTTGGGTGACAGAGCGAGACCCTGTCTCATAAATAAATAGTAATTGTATACAATGTGTAGTGTGACTTATTTCTGTAAAAAAATTTTTTTAAGCATATACGTAGAAAAACTGGATGACTACATACCAAACTAATCACTGTTATTTCTGAGGATAGGAATTCAGAGCACTTAAATTCTGTGGAATATTTGAATTTTTTACAATTAATGCATATTACTTTTTCAAAGTGTTTGTTGTGCTAGATGGTTGAGTGCTATATGGGATAAGAAGTCTAAGACAAGGCTTTCAAGGAGCTAATTGTTTTATTTAGGAAAAGGACATATGTGCAGGTGAAACACTTCAACACAAGGCAGACAGTGAACATTGTTCCAAATTGTTGGGTACACTATAAGTCGGATAGGAGTTTAGAGGAAAGAAGTAAAGGAACACACTTTCCCTAGCCATGTAGAAATGTAAACAGAAAAAAAACCAGCCTCATGTATTTTGTCATTTGGCCATTCCATAATTTATTTTGTCTTCCTTTTAATGAACATTCATATTGTTTGCAGGCTTACGTATATTGGCCTGCTTTTACAAGTCTGTCTAGGCTAGCAGTGGGATTGCTGCATAAGGGAGTGTGTATTTCAACTGTGATAGAGGGGAGGTTATAATTAACAGAGGGGCTTATGGGAATATCACAGTGATAATGGTATTTTGTTTTTTAGCTGGATGGTAGGTAAGTATATGGATGTTTTATTCCTTGTACTTTATAGTTCATTATATATTTTGTATGAGTAAAATAATTTGAGTGAAAATATTTAACTTTTGGTTAGTTATTAAAGTTTATCCCCCTTTTTTGGTCTTGAAATCACTCTTGAAGGTATGGAAAAGAATGAGAATGCCTGTTTCTTCACATCCTGGTAGATGTTGTTTGTTGTTTTATT | benign | 189,228 |
Variant chromosome 11, position 119278645, gene CBL (Cbl proto-oncogene): benign or pathogenic? Disease(s)? | benign | AACTAAGTCCTTATTTATTCCAGAATTGCTATTCCTTTGAGAATTCAAATTAATTATCAGTTGGTAAACACTTAAAAATACTAACAGTTGACCAGATGGCAGAAAACTAGCTTGTGTTTTGAAGTGATTAGGAAAATACATTTTATATTATACATTATCTTTTACTTACAATAGCATTGGGACTGAAAGGAGTGCTGCCCCAAATGTCAGAACAGTTTGATGCTAGAAACTGTGGATCTCCCTGGTAGATGATCTCAGTAGCTTAATTTGCATATTGTTACATTGCTTTTAAATTGGTGTCTCTCATTTTCTTAAACCTGTAAACCTTCTTTGATCAAAAGCAAATGCAGTTTAAACTAAGAAGTTAAGCCGGGTGCAGTGGTTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTGTACTAAAAGTACAAAAAGTTAGCCGGACGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCGGAGGTTTCAGTGAGCCAAGATCACTCACTGCAACCTCAAAAAAAAAATAAGAATCTGTCGCGCACACACACACACACACACACACACACACATAAAGAATTTCTATCTGGTGGCCATCCATTGATTAAAAATGGGTTGGTAAACTGTGACCCATGGGCCACCTGTTTGTTCCCCCGGGGAGCCAAGATAGCTTTTCCTAAGAGTCGTTTTGAAAAAAACAATCAGAGAAGAATATGTGACACAGACTAATGTGGCCTACAAATCCTAAATGATTTTCTATCTGGCCCTTTACAGAAAAGCTTGCTAACCAACCCCTTGATTAAAAGATAGAGCCTATGGCATTGTTACCTGGAGAAGGAATAATAGTTTTTGGAGAATATCTTTAAACTGTTCTGTGTTTTTTATTTTTTTGAAGTATTATTTTTTGGAAGTATTTTTTTTTTGAAGTAAGATTGATCTTTATACTTACACCACGTTGCCCTTTTAGAATGGAGAAACTCCCAGATTCCATTTGTCTATATTAGCAAGCACTGGCAAATTGGCTTAAATAAAACCCAGGGTTGGTTACTCTTTACAGCTATTTGTTTCCTGATGGACGAAATCAGAATCCTGATCTGACTGGCTTATGTGAACCAACTCCCCAAGACCATATCAAAGTGACCCAGGTGAGTTTTGTTTCACATGATAACCATATCACTGGACACAAGCTTTAGTATATTCTTTATAGAACTGACAGCATAATTGAATTCATTGGAACCCATTGACTAGATTAGTGAATTTGTGTGTATGTGGTTTCACTTTAAACCCTGGAGCTTAAAATAGGACCCAGACTAGATGCTTTCTGGTTTAATAAAAAATAAACCACTGTTGTGACATTTTTATATAAGCAAAATTTGTATAGGAAACAAGTCTTCACTTTTTCTGTTAACATTTATAATTGCAGTTATTTATTCAACTAATAGTCTTTTAATTTTTTTTAATCAAAGGAACAATATGAATTATACTGTGAGATGGGCTCCACATTCCAACTATGTAAAATATGTGCTGAAAATGATAAGGATGTAAAGATTGAGCCCTGTGGACACCTCATGTGCACATCCTGTCTTACATCCTGGCAGGTACGGATCTAAACAGCGACTTTTTTCAGCTATGTAATAACCTTGGAAAATTCGGTATTATATAGCCTTTACTGATACAAGGGGTGGCCTGGCTTTTGGGGTTAGGTTTAAACTTTTACTTTTTTTTGATCTCTAGGAAATGTATTTTCTAGTAGATTAATATTTTAAGTATTTTCAGATGCATCTGTTACTATCTTTTGCTTCTTCTGCAGGAATCAGAAGGTCAGGGCTGTCCTTTCTGCCGATGTGAAATTAAAGGTACTGAACCCATCGTGGTAGATCCGTTTGATCCTAGAGGGAGTGGCAGCCTGTTGAGGCAAGGAGCAGAGGGAGCTCCCTCCCCAAATTATGATGATGATGATGATGAACGAGCTGATGATACTCTCTTCATGATGAAGGAATTGGCTGGTGCCAAGGTAAGATGGCAGTTTAGGAGACTGGCAAAATCCATTGTGAGTTGTCTTCTAAAGCCGTAAAACACTTAACGATATCCAAACTACAATGATAGGTAGTATTAATAGCTAATATTTATTGAGCATTTACTATATGACAGATATTGTGTTAAGCACTTTACTTGTTTTTTACTCAATCTTTACTACAGCCCTATGAGTACATACTACTATTATCCTTATTTAACAGATGAAGAAACTGAGGCACAAAGAGGTTAAGGAATTTGCCGAAGACCACACAGCTAGTAGGTTGAAGCATCTGTGAGCTGCATCTATGACCAGGCATTCCAGCTTAAGGCCCATGTTCTTACTGTCTGTATTTTTTAGGACTAAGACTTTATTCATATCTGTTGGTGGAGAATATGAGGGAGAAATAAAAGAACTGGACCCTCTTTTGCTAATGCAACTAGAATAAGTTCTGTTCCCTTTTTTTTTTTTTATTTTAATGGAGTCTTGGCATTAGAAGGTTGGGGCTGGGCATGCCCATAGCTCATGCCTATAATCCCAGTACTTTGGGACGTTGAGGCTGGAGGATCAGTTGAGCCCAGTTTGAGGCCAGCCTTGGCAATATAGTGAGACCCTATCTCTACCCCTGACTCCAAAACAAAACAAAAAAAAGCTGGGTATGGTGTTGTGCACCTGTAGTTCTAACTACTCTGGAGGCCAAGGCTGGAGGATCAGTTGAGCCCAGCAATTCGACATAGCAAGACCGTATCTTTACCACCACTGCCCCCATGCCCCCCCCTAAAAAAAAAAATAGCTGGGCATGATGGTGTACGCCTGTAGTTCTAACTAGTCTGGAGACTGAGACGGGAGGATTGCTTGATCCCAGGAATTCAAGGCGGGAGTGAGTTGTGATTGTACCACTGCACTCTAGGTTGGGTGACAGAGCGAGACCCTGTCTCATAAATAAATAGTAATTGTATACAATGTGTAGTGTGACTTATTTCTGTAAAAAAATTTTTTTAAGCATATACGTAGAAAAACTGGATGACTACATACCAAACTAATCACTGTTATTTCTGAGGATAGGAATTCAGAGCACTTAAATTCTGTGGAATATTTGAATTTTTTACAATTAATGCATATTACTTTTTCAAAGTGTTTGTTGTGCTAGATGGTTGAGTGCTATATGGGATAAGAAGTCTAAGACAAGGCTTTCAAGGAGCTAATTGTTTTATTTAGGAAAAGGACATATGTGCAGGTGAAACACTTCAACACAAGGCAGACAGTGAACATTGTTCCAAATTGTTGGGTACACTATAAGTCGGATAGGAGTTTAGAGGAAAGAAGTAAAGGAACACACTTTCCCTAGCCATGTAGAAATGTAAACAGAAAAAAAACCAGCCTCATGTATTTTGTCATTTGGCCATTCCATAATTTATTTTGTCTTCCTTTTAATGAACATTCATATTGTTTGCAGGCTTACGTATATTGGCCTGCTTTTACAAGTCTGTCTAGGCTAGCAGTGGGATTGCTGCATAAGGGAGTGTGTATTTCAACTGTGATAGAGGGGAGGTTATAATTAACAGAGGGGCTTATGGGAATATCACAGTGATAATGGTATTTTGTTTTTTAGCTGGATGGTAGGTAAGTATATGGATGTTTTATTCCTTGTACTTTATAGTTCATTATATATTTTGTATGAGTAAAATAATTTGAGTGAAAATATTTAACTTTTGGTTAGTTATTAAAGTTTATCCCCCTTTTTTGGTCTTGAAATCACTCTTGAAGGTATGGAAAAGAATGAGAATGCCTGTTTCTTCACATCCTGGTAGATGTTGTTTGTTGTTTTATTTTGATTTTTTTTAATATACTGAATCTACTTATAGTTGGTGAATGCACATGGATTTTTTTTAAGGTTTAAAAGAATTGCTAAAAAAAACTTACAAAAACATTGGTTCCCTGCCTCTGCCCCCTCCAGCACCTCTCTGTCCCCTCGTTCA | AACTAAGTCCTTATTTATTCCAGAATTGCTATTCCTTTGAGAATTCAAATTAATTATCAGTTGGTAAACACTTAAAAATACTAACAGTTGACCAGATGGCAGAAAACTAGCTTGTGTTTTGAAGTGATTAGGAAAATACATTTTATATTATACATTATCTTTTACTTACAATAGCATTGGGACTGAAAGGAGTGCTGCCCCAAATGTCAGAACAGTTTGATGCTAGAAACTGTGGATCTCCCTGGTAGATGATCTCAGTAGCTTAATTTGCATATTGTTACATTGCTTTTAAATTGGTGTCTCTCATTTTCTTAAACCTGTAAACCTTCTTTGATCAAAAGCAAATGCAGTTTAAACTAAGAAGTTAAGCCGGGTGCAGTGGTTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTGTACTAAAAGTACAAAAAGTTAGCCGGACGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCCAGGAGGCGGAGGTTTCAGTGAGCCAAGATCACTCACTGCAACCTCAAAAAAAAAATAAGAATCTGTCGCGCACACACACACACACACACACACACACACATAAAGAATTTCTATCTGGTGGCCATCCATTGATTAAAAATGGGTTGGTAAACTGTGACCCATGGGCCACCTGTTTGTTCCCCCGGGGAGCCAAGATAGCTTTTCCTAAGAGTCGTTTTGAAAAAAACAATCAGAGAAGAATATGTGACACAGACTAATGTGGCCTACAAATCCTAAATGATTTTCTATCTGGCCCTTTACAGAAAAGCTTGCTAACCAACCCCTTGATTAAAAGATAGAGCCTATGGCATTGTTACCTGGAGAAGGAATAATAGTTTTTGGAGAATATCTTTAAACTGTTCTGTGTTTTTTATTTTTTTGAAGTATTATTTTTTGGAAGTATTTTTTTTTTGAAGTAAGATTGATCTTTATACTTACACCACGTTGCCCTTTTAGAATGGAGAAACTCCCAGATTCCATTTGTCTATATTAGCAAGCACTGGCAAATTGGCTTAAATAAAACCCAGGGTTGGTTACTCTTTACAGCTATTTGTTTCCTGATGGACGAAATCAGAATCCTGATCTGACTGGCTTATGTGAACCAACTCCCCAAGACCATATCAAAGTGACCCAGGTGAGTTTTGTTTCACATGATAACCATATCACTGGACACAAGCTTTAGTATATTCTTTATAGAACTGACAGCATAATTGAATTCATTGGAACCCATTGACTAGATTAGTGAATTTGTGTGTATGTGGTTTCACTTTAAACCCTGGAGCTTAAAATAGGACCCAGACTAGATGCTTTCTGGTTTAATAAAAAATAAACCACTGTTGTGACATTTTTATATAAGCAAAATTTGTATAGGAAACAAGTCTTCACTTTTTCTGTTAACATTTATAATTGCAGTTATTTATTCAACTAATAGTCTTTTAATTTTTTTTAATCAAAGGAACAATATGAATTATACTGTGAGATGGGCTCCACATTCCAACTATGTAAAATATGTGCTGAAAATGATAAGGATGTAAAGATTGAGCCCTGTGGACACCTCATGTGCACATCCTGTCTTACATCCTGGCAGGTACGGATCTAAACAGCGACTTTTTTCAGCTATGTAATAACCTTGGAAAATTCGGTATTATATAGCCTTTACTGATACAAGGGGTGGCCTGGCTTTTGGGGTTAGGTTTAAACTTTTACTTTTTTTTGATCTCTAGGAAATGTATTTTCTAGTAGATTAATATTTTAAGTATTTTCAGATGCATCTGTTACTATCTTTTGCTTCTTCTGCAGGAATCAGAAGGTCAGGGCTGTCCTTTCTGCCGATGTGAAATTAAAGGTACTGAACCCATCGTGGTAGATCCGTTTGATCCTAGAGGGAGTGGCAGCCTGTTGAGGCAAGGAGCAGAGGGAGCTCCCTCCCCAAATTATGATGATGATGATGATGATGAACGAGCTGATGATACTCTCTTCATGATGAAGGAATTGGCTGGTGCCAAGGTAAGATGGCAGTTTAGGAGACTGGCAAAATCCATTGTGAGTTGTCTTCTAAAGCCGTAAAACACTTAACGATATCCAAACTACAATGATAGGTAGTATTAATAGCTAATATTTATTGAGCATTTACTATATGACAGATATTGTGTTAAGCACTTTACTTGTTTTTTACTCAATCTTTACTACAGCCCTATGAGTACATACTACTATTATCCTTATTTAACAGATGAAGAAACTGAGGCACAAAGAGGTTAAGGAATTTGCCGAAGACCACACAGCTAGTAGGTTGAAGCATCTGTGAGCTGCATCTATGACCAGGCATTCCAGCTTAAGGCCCATGTTCTTACTGTCTGTATTTTTTAGGACTAAGACTTTATTCATATCTGTTGGTGGAGAATATGAGGGAGAAATAAAAGAACTGGACCCTCTTTTGCTAATGCAACTAGAATAAGTTCTGTTCCCTTTTTTTTTTTTTATTTTAATGGAGTCTTGGCATTAGAAGGTTGGGGCTGGGCATGCCCATAGCTCATGCCTATAATCCCAGTACTTTGGGACGTTGAGGCTGGAGGATCAGTTGAGCCCAGTTTGAGGCCAGCCTTGGCAATATAGTGAGACCCTATCTCTACCCCTGACTCCAAAACAAAACAAAAAAAAGCTGGGTATGGTGTTGTGCACCTGTAGTTCTAACTACTCTGGAGGCCAAGGCTGGAGGATCAGTTGAGCCCAGCAATTCGACATAGCAAGACCGTATCTTTACCACCACTGCCCCCATGCCCCCCCCTAAAAAAAAAAATAGCTGGGCATGATGGTGTACGCCTGTAGTTCTAACTAGTCTGGAGACTGAGACGGGAGGATTGCTTGATCCCAGGAATTCAAGGCGGGAGTGAGTTGTGATTGTACCACTGCACTCTAGGTTGGGTGACAGAGCGAGACCCTGTCTCATAAATAAATAGTAATTGTATACAATGTGTAGTGTGACTTATTTCTGTAAAAAAATTTTTTTAAGCATATACGTAGAAAAACTGGATGACTACATACCAAACTAATCACTGTTATTTCTGAGGATAGGAATTCAGAGCACTTAAATTCTGTGGAATATTTGAATTTTTTACAATTAATGCATATTACTTTTTCAAAGTGTTTGTTGTGCTAGATGGTTGAGTGCTATATGGGATAAGAAGTCTAAGACAAGGCTTTCAAGGAGCTAATTGTTTTATTTAGGAAAAGGACATATGTGCAGGTGAAACACTTCAACACAAGGCAGACAGTGAACATTGTTCCAAATTGTTGGGTACACTATAAGTCGGATAGGAGTTTAGAGGAAAGAAGTAAAGGAACACACTTTCCCTAGCCATGTAGAAATGTAAACAGAAAAAAAACCAGCCTCATGTATTTTGTCATTTGGCCATTCCATAATTTATTTTGTCTTCCTTTTAATGAACATTCATATTGTTTGCAGGCTTACGTATATTGGCCTGCTTTTACAAGTCTGTCTAGGCTAGCAGTGGGATTGCTGCATAAGGGAGTGTGTATTTCAACTGTGATAGAGGGGAGGTTATAATTAACAGAGGGGCTTATGGGAATATCACAGTGATAATGGTATTTTGTTTTTTAGCTGGATGGTAGGTAAGTATATGGATGTTTTATTCCTTGTACTTTATAGTTCATTATATATTTTGTATGAGTAAAATAATTTGAGTGAAAATATTTAACTTTTGGTTAGTTATTAAAGTTTATCCCCCTTTTTTGGTCTTGAAATCACTCTTGAAGGTATGGAAAAGAATGAGAATGCCTGTTTCTTCACATCCTGGTAGATGTTGTTTGTTGTTTTATTTTGATTTTTTTTAATATACTGAATCTACTTATAGTTGGTGAATGCACATGGATTTTTTTTAAGGTTTAAAAGAATTGCTAAAAAAAACTTACAAAAACATTGGTTCCCTGCCTCTGCCCCCTCCAGCACCTCTCTGTCCCCTCGT | benign | 189,244 |
Is the genetic change at chromosome 11, position 119285172, within gene CBL (Cbl proto-oncogene) benign or pathogenic? Name the disease(s) if pathogenic. | benign | AGTAGAATGAAATGAAATATACAGGTATGAGAATCTTTTAGGGAAAAATCAGCAGGATATAGCTACTGACAAAATAATTATGATGAAGTGAGAGGAGGCTTGACTAGTAACTTTGACTTTTGTCATTGAGCTGTTTAGCTGCTCATGCTGCATTGTCAGCTAATTGGGAACCCGTTATCTTAAGCATGTGGATAAAGCAAAGAGTTAAAGATGAGAGCTTTTCTGTCATCCACCACCCAGCACTAATAACATGACTAAATATGGCTGTTTTTCTGTCAGTGTTGCTTTGCTGTTGGGGAATTTAAATGCAGAGTAGCATTTTTTTTTTAATGAATTACTGTGTATCTCTTGACAGCTTACTTTGACAAGCTTATCAGCTATTCCTAAGCCTGCTATAGGCAGGGAAATGGAAAAGGTTATATATGTGTTCTTTCTTCTAATTTGGTACCTCATTTTTTAGAGCTCAAATTGACAGAAAATATTAATCCTTTTTAATTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTTTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCACGCCTGGCCTTAATTATTGAATTGAAATAATTTATTTCTTTGGAAGGACTCAAGATGCTTTTTAGTGATATTCTTGATCATTTTTCTTTACAAATTCACCTTAAAAAAATTTTTAGTTAAAATTTTTTAGAGGGATCTCACTATGTTGACAAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCTCCTGCCTCCCCAAATGCAGGATTACAGGTGTGAGCCACTGTACCGACTCTCATCTTCTTTCTTACCTTAATAACCCATAGAGAATTCACCGTCATCGATCTCTTTCTTTATTATGTCCCTTAAACATTGTTTTCCCAGGTACTTTGTTAAGAGGTTAATATCTGCACCCCCCGCCCCACTGCCATCCTTTTTTTTTATTTTATTTTTGTCGAGACAGGCTCTTGCTCTGTTGCCCAGGCTGGAGTACAGTGGCTAGATTATGGTTCACTGCAGTCTCAAACTCCTAGGCTCAAGCAGTCTTCCTGTTTTAGCCTCCCAAATAGCTGTGTGCCACCATGGCCCAGCTAATTTTTTATTTTATTTTTTGTAGAGATGGGGTCTCATTATGTTGCCCATACTGGTCTCGAACTCCTGCCTCCCAAAATGTTAGTATTACAGGTGTGGGCCACTGTGCATGGCCTGCCCCTTACTTTTTATATGGATTCCTATTTTTAATCTTGAAAAGATTTTTTTCTTTCTCCAAAGATGAGGGGGTAGAAAACTGTTGTAATTTTTAAAGTTGTAAACTAGGAAACTTTTTGTAGCCCTGTCCTTTCTAGATAGATTACCTGTAGCTTGCCATGGGTATGGTGTTTCTGTGATTGAGAGTGCCCTCTTATGGTGACACAAAAATTATTCAGGAAGTGCTAGAGTCTCTGGAAGTTTTTTAAGAGGGTGTGTGCGACCTCAAACCTAGGTCTGGCCCATTTGTAGTTTAAGTGTTCCCATGGTATTTGCCATCCACAGCTTTAGGAGAGTTGAAAGATGCCATTTCCCCAAACGAAAGTAATCTGTTAAATTTTTTATGTACCCTAGGTGGAACGGCCGCCTTCTCCATTCTCCATGGCCCCACAAGCTTCCCTTCCCCCGGTGCCACCACGACTTGACCTTCTGCCGCAGCGAGTATGTGTTCCCTCAAGTGCTTCTGCTCTTGGAACTGCTTCTAAGGTAAAGCATTTTCCATTACTGCAGTTTTTGGATTCTTTGCTGTGTACTAGTGGGTTTTTACTGATTTGCTTTCACCCTGCTTCCACAGGCTGCTTCTGGCTCCCTTCATAAAGACAAACCATTGCCAGTACCTCCCACACTTCGAGATCTTCCACCACCACCGCCTCCAGACCGGCCATATTCTGTTGGAGCAGAATCCCGACCTCAAAGACGCCCCTTGCCTTGTACACCAGGCGACTGTCCCTCCAGAGACAAACTGCCCCCTGTCCCCTCTAGCCGCCTTGGAGACTCATGGCTGCCCCGGCCAATCCCCAAAGTACCAGTATCTGCCCCAAGTTCCAGTGATCCCTGGACAGGAAGAGAATTAACCAACCGGCACTCACTTCCATTTTCATTGCCCTCACAAATGGAGCCCAGACCAGATGTGCCTAGGCTCGGAAGCACGTTCAGTCTGGATACCTCCATGGTGAGTCTTAATTTTGAAACTATCTAACCTGTTAAGAAATATGTGTGGGCCAGGCACAGTGGCTCATGTCTGTAATCCCAGCAATTTGGGAGGCCAAGGTGGGTGGATCGCTTGAGCCGAGGATTTCGAGACCAGCCTGGGGGACGTAGTGAAACCCTGTCTCTACAAAAATTACAAAAATTAGCTGGGCGTGGTGGCACTTGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGTGGGAATATTGCTTGGGCCCAGGAGGCCAAGCTTTCAGTGAGCCATGATGGCGCCACTGCACTCCAGCCTAGGCAATAGAGTAAGACCCTGTCTTGAAAAAAAAGAAGAAAGAAAAAGAAATATGTGTGGATAGAAGTTTATGGGTTGAAATTTTGTGATAAGTTTTATATGGAATTCAGAGATGCTATAACATAATTCCTACCCTCAAGAAATATGGCTGGGCGTGGTGGCTCACACCTGCAATCACAGCACTTTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCACCCTGGCTAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACTGGGCCTGGTGGTGGGTGTCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGATTCATTTGAACCTGGAGGCAGAGGTTGCAGTGAGCTGAGATCAGGTGATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTTTGTCTCAAAAAAAAAATGTGTATATTCACAGACCAGATGAGGCAGTTTGTAAATATTGCAGTAAATGTCCTTTCATAAATGCCATTTGTAATCTAACTAGAAAACACTTAAGTTTTAGAGAAATAAGAGGTTATTCCCAGATAGGGCAATCATGAGAACTTTATAGAAGGAGTGGCATCTGAGATCTGAAGTATTTCTTTGGAAAGTGGATACGGTTTTCAGATTGATAACAGCCACAATGACAGAAATGCCTAAGGTGTATTGTGGAATGATGATTAGGTTATTTTAAGTAGAGCAGAAATTTTGTCAGTAGGAGAAAGAACTGGAAAGGAACATCACACTAGATTAGAGAGAGTTGAATACCCTCTCCCAAAAGAATTTTAATTTGTATGGTAGGAAATGAAGAGCATTTGAAGGGGGTAGGTTATTGGTCCTTTGTCTAAATATGCAAGAAAGGGTCCAGAACTGAGAGGTGGGAGAGGAATATTTGATGTTTTGTTCATTTATGCACTTAACAAAAAGTCTTGCCCTCACAAAGTTTATATTCTAATGGGAGGAAGATGGAATATAAACATGTTAATTGAATAACATAGTATGTTCACAGTCACAAGTGCTATGGAGAAAAATAGCCCAAAGAAGGGTATAGAGAAAGCTGGCATAGGAGTGGGAGGTATGTGAAGTTATAGAGTACAATTCTGAGCAGAAACCTGTAGCAGTAGGAGGATGTGCCATGCTGATCCCAGGGGAGATTATTCCAGGATGAAGGAAAAAGCAAGTGAGTTTGGGAGAGACTGAAGAATAACAAAGGGGTTTAATATAGCCAGTACTAAATGAGCAAGAGAGAGAATCATTGTTTATGAGCAGAGTGGGCAGCCAGATGATTAGGTCGAAGCCTTTCGAGAGCATGAAATAAAGACTTGTTAAGG | AGTAGAATGAAATGAAATATACAGGTATGAGAATCTTTTAGGGAAAAATCAGCAGGATATAGCTACTGACAAAATAATTATGATGAAGTGAGAGGAGGCTTGACTAGTAACTTTGACTTTTGTCATTGAGCTGTTTAGCTGCTCATGCTGCATTGTCAGCTAATTGGGAACCCGTTATCTTAAGCATGTGGATAAAGCAAAGAGTTAAAGATGAGAGCTTTTCTGTCATCCACCACCCAGCACTAATAACATGACTAAATATGGCTGTTTTTCTGTCAGTGTTGCTTTGCTGTTGGGGAATTTAAATGCAGAGTAGCATTTTTTTTTTAATGAATTACTGTGTATCTCTTGACAGCTTACTTTGACAAGCTTATCAGCTATTCCTAAGCCTGCTATAGGCAGGGAAATGGAAAAGGTTATATATGTGTTCTTTCTTCTAATTTGGTACCTCATTTTTTAGAGCTCAAATTGACAGAAAATATTAATCCTTTTTAATTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTTTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGCGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGCGATTACAGGCGTGAGCCACCACGCCTGGCCTTAATTATTGAATTGAAATAATTTATTTCTTTGGAAGGACTCAAGATGCTTTTTAGTGATATTCTTGATCATTTTTCTTTACAAATTCACCTTAAAAAAATTTTTAGTTAAAATTTTTTAGAGGGATCTCACTATGTTGACAAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCTCCTGCCTCCCCAAATGCAGGATTACAGGTGTGAGCCACTGTACCGACTCTCATCTTCTTTCTTACCTTAATAACCCATAGAGAATTCACCGTCATCGATCTCTTTCTTTATTATGTCCCTTAAACATTGTTTTCCCAGGTACTTTGTTAAGAGGTTAATATCTGCACCCCCCGCCCCACTGCCATCCTTTTTTTTTATTTTATTTTTGTCGAGACAGGCTCTTGCTCTGTTGCCCAGGCTGGAGTACAGTGGCTAGATTATGGTTCACTGCAGTCTCAAACTCCTAGGCTCAAGCAGTCTTCCTGTTTTAGCCTCCCAAATAGCTGTGTGCCACCATGGCCCAGCTAATTTTTTATTTTATTTTTTGTAGAGATGGGGTCTCATTATGTTGCCCATACTGGTCTCGAACTCCTGCCTCCCAAAATGTTAGTATTACAGGTGTGGGCCACTGTGCATGGCCTGCCCCTTACTTTTTATATGGATTCCTATTTTTAATCTTGAAAAGATTTTTTTCTTTCTCCAAAGATGAGGGGGTAGAAAACTGTTGTAATTTTTAAAGTTGTAAACTAGGAAACTTTTTGTAGCCCTGTCCTTTCTAGATAGATTACCTGTAGCTTGCCATGGGTATGGTGTTTCTGTGATTGAGAGTGCCCTCTTATGGTGACACAAAAATTATTCAGGAAGTGCTAGAGTCTCTGGAAGTTTTTTAAGAGGGTGTGTGCGACCTCAAACCTAGGTCTGGCCCATTTGTAGTTTAAGTGTTCCCATGGTATTTGCCATCCACAGCTTTAGGAGAGTTGAAAGATGCCATTTCCCCAAACGAAAGTAATCTGTTAAATTTTTTATGTACCCTAGGTGGAACGGCCGCCTTCTCCATTCTCCATGGCCCCACAAGCTTCCCTTCCCCCGGTGCCACCACGACTTGACCTTCTGCCGCAGCGAGTATGTGTTCCCTCAAGTGCTTCTGCTCTTGGAACTGCTTCTAAGGTAAAGCATTTTCCATTACTGCAGTTTTTGGATTCTTTGCTGTGTACTAGTGGGTTTTTACTGATTTGCTTTCACAGGCTGCTTCTGGCTCCCTTCATAAAGACAAACCATTGCCAGTACCTCCCACACTTCGAGATCTTCCACCACCACCGCCTCCAGACCGGCCATATTCTGTTGGAGCAGAATCCCGACCTCAAAGACGCCCCTTGCCTTGTACACCAGGCGACTGTCCCTCCAGAGACAAACTGCCCCCTGTCCCCTCTAGCCGCCTTGGAGACTCATGGCTGCCCCGGCCAATCCCCAAAGTACCAGTATCTGCCCCAAGTTCCAGTGATCCCTGGACAGGAAGAGAATTAACCAACCGGCACTCACTTCCATTTTCATTGCCCTCACAAATGGAGCCCAGACCAGATGTGCCTAGGCTCGGAAGCACGTTCAGTCTGGATACCTCCATGGTGAGTCTTAATTTTGAAACTATCTAACCTGTTAAGAAATATGTGTGGGCCAGGCACAGTGGCTCATGTCTGTAATCCCAGCAATTTGGGAGGCCAAGGTGGGTGGATCGCTTGAGCCGAGGATTTCGAGACCAGCCTGGGGGACGTAGTGAAACCCTGTCTCTACAAAAATTACAAAAATTAGCTGGGCGTGGTGGCACTTGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGTGGGAATATTGCTTGGGCCCAGGAGGCCAAGCTTTCAGTGAGCCATGATGGCGCCACTGCACTCCAGCCTAGGCAATAGAGTAAGACCCTGTCTTGAAAAAAAAGAAGAAAGAAAAAGAAATATGTGTGGATAGAAGTTTATGGGTTGAAATTTTGTGATAAGTTTTATATGGAATTCAGAGATGCTATAACATAATTCCTACCCTCAAGAAATATGGCTGGGCGTGGTGGCTCACACCTGCAATCACAGCACTTTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCACCCTGGCTAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAAATTAACTGGGCCTGGTGGTGGGTGTCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGATTCATTTGAACCTGGAGGCAGAGGTTGCAGTGAGCTGAGATCAGGTGATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTTTGTCTCAAAAAAAAAATGTGTATATTCACAGACCAGATGAGGCAGTTTGTAAATATTGCAGTAAATGTCCTTTCATAAATGCCATTTGTAATCTAACTAGAAAACACTTAAGTTTTAGAGAAATAAGAGGTTATTCCCAGATAGGGCAATCATGAGAACTTTATAGAAGGAGTGGCATCTGAGATCTGAAGTATTTCTTTGGAAAGTGGATACGGTTTTCAGATTGATAACAGCCACAATGACAGAAATGCCTAAGGTGTATTGTGGAATGATGATTAGGTTATTTTAAGTAGAGCAGAAATTTTGTCAGTAGGAGAAAGAACTGGAAAGGAACATCACACTAGATTAGAGAGAGTTGAATACCCTCTCCCAAAAGAATTTTAATTTGTATGGTAGGAAATGAAGAGCATTTGAAGGGGGTAGGTTATTGGTCCTTTGTCTAAATATGCAAGAAAGGGTCCAGAACTGAGAGGTGGGAGAGGAATATTTGATGTTTTGTTCATTTATGCACTTAACAAAAAGTCTTGCCCTCACAAAGTTTATATTCTAATGGGAGGAAGATGGAATATAAACATGTTAATTGAATAACATAGTATGTTCACAGTCACAAGTGCTATGGAGAAAAATAGCCCAAAGAAGGGTATAGAGAAAGCTGGCATAGGAGTGGGAGGTATGTGAAGTTATAGAGTACAATTCTGAGCAGAAACCTGTAGCAGTAGGAGGATGTGCCATGCTGATCCCAGGGGAGATTATTCCAGGATGAAGGAAAAAGCAAGTGAGTTTGGGAGAGACTGAAGAATAACAAAGGGGTTTAATATAGCCAGTACTAAATGAGCAAGAGAGAGAATCATTGTTTATGAGCAGAGTGGGCAGCCAGATGATTAGGTCGAAGCCTTTCGAGAGCATGAAATAAAGACTTGTTAAGGNNNNNNNNNNN | benign | 189,265 |
Does the variant on chromosome 11 at location 119297492 affecting gene CBL (Cbl proto-oncogene) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GGGTGGGGTGACTCAGGCCTGTAATCCTAGCATTTTGGGAGGCTGGGGCGGGAGGATCACTTGAACCCAAGAGTTTAAGACCAGCCTGGGCAACATAGTGAGACTCTGTCTCTACAAAAAAAAAAATTTTTTTTAATTAGCCTGGTATTGTGGCACATGTCTAGTCCCACCTACTGAGGAGGCTGAGTTGGGAGGATCACTTGAGCCCGGGAGATCAAGGCTGCAGTGGGTTGTCATCATGCCACTGTGCTCCAGCGAAAAATCTAGGTGTTTCTTTCTGAATATGGACTGTCCTCCCGCCATCTCATTTTATTGTGAAAAGTTACAAAGATAGTAAAGGTGAAAGAATTTTACAGTGAACACCCATATACTGATCACCTGGATTCTACTTTTAGCATTTTATTATACTTGTTTTATCAGACTATATGTCTGTCTTTTGATGTTTTCAAAGTAAATTGTAGATACCAATACACTTCTGCCTCAGAACTTCAGCATGCATTGCACAAATCTTAAGTGGATATTTCCCATTAACGGCAAAAAACACAATTACTTTTGCACCAACCTAATAAAAGTAATATGTAGATATAAGAAAAAACCTCAAGTGAGATTAAAGGGGACTTCTATGTTCTGTGTTAAGTTTCTATAGCACTTATGTGTGTATTATAAATGTGTTGCTTTTATAATTAGGAAAACTAAGCATCAAGCAGACAAACGAAAGAGATGCTCCTTGTAGCATCTTTAGGATATGCAAAAATAATAGGAAGGGAGGAGAAACACAAATTCACACTCCAAGAAGTAGGTTTTTGTGTGTCTTTTTTTCCCCCCTACAATTTAGTGGGGTGTTTTTGTATTTCTTGGGAGTTTTTTCATTTCATTTCATGCGGTGGCAGAAGTCTTGTTTCCAAAGTTTCTGGGTGAAAGTTACATGTGGATATAACAGCCAGATCCTTGATGTGGGAGTCAGTAGATCTGGGATCTAGCCTCAGAATTTACGCTAACTGCGGTCGCTTTATCTCTCTCTATTTTAAATTTTTCTTATATAAAACAAGGAGTTTGAGAAAGCTTTTGACAAGCTATGCATTCCTTGAAACCATAGGTAGAGTTTAGAATTGGAATTTAGTTTACAGTTCTAACATTGTCAGAAAAAATCTTGCCGTTTCTCTAACTCTAGGGCCTGGGACTCTATAATGAAACTTCTGTGGGGGATTAGGACTAACCAGTATCTCAGGTGATTAGCCCAGTATATCACCTCTGAAGCATAAAAGCTGCACCTTTGGTCAGTTGAAAGTGACATTTTTAGTTAGTGTACTTTTGCTAATTACTTGTCTTGGTCAGCAGAAATAATAGTTCCCTAGGTGACATGTATTTTGCTCTGTTCAATTTGAGTTATGTCTGTTTTTAAGCCATTTATTTTATACTTCAAAGTTTACTGGTTTGTTACTTCTTTTTCTATTTTTTATTCTTCATCTTCCAGACCTCTTCCTGTGCCAAAACTGCCACCTGGGGAGCAATGTGAGGGTGAAGAGGACACAGAGTACATGACTCCCTCTTCCAGGCCTCTACGGCCTTTGGATACATCCCAGAGTTCACGGTAGGTTCACAACAACCCTTTTTGGGCCCTATACCTTTATGTGGGTAATTGACACCCTTCACCTGCTTGGCTTGCTACCTGCACATACTGTTATCCAGTCAGATTAAAGCAGAAAGATAAAGATAAATCTAGCCCTTAATGGTTTAAGCCTTTTGTAGCTGTAGGTAATTACACTTATGTTTTCTCAGCAACATGAGAACCTCAAAAACACATACACCTATAACTTGCCACAAGAGTCAACTTTAACATTTATTAGTGATATTGGCAAAACGAGAAGATGAATCTTCATAAGTTTATAGATAACAGTTCTATTTCCAAAGATCATTATGGCACTTTCCTTCTGGTTCAGAGCATGTGATTGCGACCAGCAGATTGATAGCTGTACGTATGAAGCAATGTATAATATTCAGTCCCAGGCGCCATCTATCACCGAGAGCAGCACCTTTGGTAAGTTGCCATTCTGCTACTTTAAAAATCATTGATATGTCATAGGAATGAACATGTAATATTTGGCAATTGAGATAGCTTGATCTAAGCTCAAAATTCTTCTGTAGCTGGGACTACAGGTACGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGGTGATCCACCCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCACGCCCAGACAAAGCTGAAAATTATTTTCAGTAATCTTTGGCAAAATATCTTTGACATGGGCAGTAAAGTATCCCCAATCCTTTATTTCCTACTCACACTGCTGGTTCCTTTTGTGCTTTTCTTTGTCCTTCCAGGGCCTAGAGACATTTGTGTTCTATACTCTGGACCTGTAAGCTCCTTTTTTTTCTCATTGCATTGATGAAATTCTTTTATGTGGGGGTGGTGAACACTCAATTCCCATGTTAACTAGCCTACCAGATTGAAAGTTCAAGAAGCCTGCTCTCACAGGATCCTTTGCTGATCTTCCAAGGTGGAATGTGGATAGAAATGTTTATTGAATGATCTGAGATGACACTGGAGTCATTGGCATCGGTGGCTATTAACCTTGTCAAGAATAACCTTTGGCATGTTCAAAAATGAAAGCTGCAGTGTTGGTGCAGATTTTATTTTCTATTTTTATCTCTGTTTACATGGTGTTTGGCCCACAGTAGACAATCAGTAACTGTTGAATGAGATAAATGATTGCATACATGTAAAAATGAATGGCTGCCCCGTATTGAAATGTATTAGAAGATGAAGTGCGTCAGAAGAAGATAACATCACTCATTTTTCTCCAGGTGAAGGGAATTTGGCCGCAGCCCATGCCAACACTGGTCCCGAGGAGTCAGAAAATGAGGATGATGGGTATGATGTCCCAAAGCCACCTGTGCCGGCCGTGCTGGCCCGCCGAACTCTCTCAGATATCTCTAATGCCAGCTCCTCCTTTGGCTGGTTGTCTCTGGATGGTGATCCTACAACAAGTGAGTCTCCAGACTACTTTGGGTTTGTCCTGAATGGCAGTGTGGCCTGTATGTTTATATTGAAAGGGAGATGACCTTCTCTGGTGACAGTAAGTCAGTATGTAGGCTAAACATTATGTCTAAATGGGAGGAAAGTCCCAAGTTAGGAAGTTAGACTGTAGTCAGACTCTTTAGGATTTTTGCAGACTTAGAAAAGAGGTCATTCCTTAAACTCTGGCTCTTCTTATGTTAGGGGTAGGTAGGATTTATAGTTTCTCTGAGTATGCCTTATGACACTGGTAATTAGGCTTGATGGCTCAGAGCACACATTCCTTTTTCCTGGGCTCTGTTCCATTGGAAAGAAGGCATGCTAGCTCTGGAACACACACTGAATGGGCCTGGAGCCAGCCCATGTTGGGCCTTGACTACTGGAGGCTGCTCTTCTTGCACCTGTGGCTGCCTGGTAGGGCAGCAGCCAGAGTTGCTGTCACTTTGGAATTGAAGACAGCCTTCAGGACAGACAGCTGGTGAAAAAGAATACAGCCTTCGCTTGCCCAGACGAGCAATGTCCCCCACTCAGCCTTGGCTAATGCTTCTTCATTGCAACTTATATCTGTCTTTTTCCTTATTTGTAGAAGGCGAAGTTTAGTATCTTTGGTCCCCTCAGAATTAAAACAGACAATTACATGTGCACAAACATGTTGCTTAGTGTAAAGCATGATGCAGATGTTTATGATTGCAGTGGTTATTGTTCATAGGACAGGTGCATGGTATATTTAGAAGGTTGTTTTTATTGTGATGAGGAGGCTATATCTTAAAACCCTTGAACCTGTAAAACCCAGCCTTGTGACTGAAGAGCACATGTACCCAGTTTACAGGAAGTCAGTAATATCTTGATATTAGCACATTTTTATTGCTGTTGTTAAATGAGGATTTCCCCAGATTTGCAAATATTTTCTTTCCTATTTCTTCTAGATGTCACTGAAGGTTCCCAAGTTCCCGAGAGGCCTCCAAAACCAT | GGGTGGGGTGACTCAGGCCTGTAATCCTAGCATTTTGGGAGGCTGGGGCGGGAGGATCACTTGAACCCAAGAGTTTAAGACCAGCCTGGGCAACATAGTGAGACTCTGTCTCTACAAAAAAAAAAATTTTTTTTAATTAGCCTGGTATTGTGGCACATGTCTAGTCCCACCTACTGAGGAGGCTGAGTTGGGAGGATCACTTGAGCCCGGGAGATCAAGGCTGCAGTGGGTTGTCATCATGCCACTGTGCTCCAGCGAAAAATCTAGGTGTTTCTTTCTGAATATGGACTGTCCTCCCGCCATCTCATTTTATTGTGAAAAGTTACAAAGATAGTAAAGGTGAAAGAATTTTACAGTGAACACCCATATACTGATCACCTGGATTCTACTTTTAGCATTTTATTATACTTGTTTTATCAGACTATATGTCTGTCTTTTGATGTTTTCAAAGTAAATTGTAGATACCAATACACTTCTGCCTCAGAACTTCAGCATGCATTGCACAAATCTTAAGTGGATATTTCCCATTAACGGCAAAAAACACAATTACTTTTGCACCAACCTAATAAAAGTAATATGTAGATATAAGAAAAAACCTCAAGTGAGATTAAAGGGGACTTCTATGTTCTGTGTTAAGTTTCTATAGCACTTATGTGTGTATTATAAATGTGTTGCTTTTATAATTAGGAAAACTAAGCATCAAGCAGACAAACGAAAGAGATGCTCCTTGTAGCATCTTTAGGATATGCAAAAATAATAGGAAGGGAGGAGAAACACAAATTCACACTCCAAGAAGTAGGTTTTTGTGTGTCTTTTTTTCCCCCCTACAATTTAGTGGGGTGTTTTTGTATTTCTTGGGAGTTTTTTCATTTCATTTCATGCGGTGGCAGAAGTCTTGTTTCCAAAGTTTCTGGGTGAAAGTTACATGTGGATATAACAGCCAGATCCTTGATGTGGGAGTCAGTAGATCTGGGATCTAGCCTCAGAATTTACGCTAACTGCGGTCGCTTTATCTCTCTCTATTTTAAATTTTTCTTATATAAAACAAGGAGTTTGAGAAAGCTTTTGACAAGCTATGCATTCCTTGAAACCATAGGTAGAGTTTAGAATTGGAATTTAGTTTACAGTTCTAACATTGTCAGAAAAAATCTTGCCGTTTCTCTAACTCTAGGGCCTGGGACTCTATAATGAAACTTCTGTGGGGGATTAGGACTAACCAGTATCTCAGGTGATTAGCCCAGTATATCACCTCTGAAGCATAAAAGCTGCACCTTTGGTCAGTTGAAAGTGACATTTTTAGTTAGTGTACTTTTGCTAATTACTTGTCTTGGTCAGCAGAAATAATAGTTCCCTAGGTGACATGTATTTTGCTCTGTTCAATTTGAGTTATGTCTGTTTTTAAGCCATTTATTTTATACTTCAAAGTTTACTGGTTTGTTACTTCTTTTTCTATTTTTTATTCTTCATCTTCCAGACCTCTTCCTGTGCCAAAACTGCCACCTGGGGAGCAATGTGAGGGTGAAGAGGACACAGAGTACATGACTCCCTCTTCCAGGCCTCTACGGCCTTTGGATACATCCCAGAGTTCACGGTAGGTTCACAACAACCCTTTTTGGGCCCTATACCTTTATGTGGGTAATTGACACCCTTCACCTGCTTGGCTTGCTACCTGCACATACTGTTATCCAGTCAGATTAAAGCAGAAAGATAAAGATAAATCTAGCCCTTAATGGTTTAAGCCTTTTGTAGCTGTAGGTAATTACACTTATGTTTTCTCAGCAACATGAGAACCTCAAAAACACATACACCTATAACTTGCCACAAGAGTCAACTTTAACATTTATTAGTGATATTGGCAAAACGAGAAGATGAATCTTCATAAGTTTATAGATAACAGTTCTATTTCCAAAGATCATTATGGCACTTTCCTTCTGGTTCAGAGCATGTGATTGCGACCAGCAGATTGATAGCTGTACGTATGAAGCAATGTATAATATTCAGTCCCAGGCGCCATCTATCACCGAGAGCAGCACCTTTGGTAAGTTGCCATTTAAAAATCATTGATATGTCATAGGAATGAACATGTAATATTTGGCAATTGAGATAGCTTGATCTAAGCTCAAAATTCTTCTGTAGCTGGGACTACAGGTACGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGGTGATCCACCCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCACGCCCAGACAAAGCTGAAAATTATTTTCAGTAATCTTTGGCAAAATATCTTTGACATGGGCAGTAAAGTATCCCCAATCCTTTATTTCCTACTCACACTGCTGGTTCCTTTTGTGCTTTTCTTTGTCCTTCCAGGGCCTAGAGACATTTGTGTTCTATACTCTGGACCTGTAAGCTCCTTTTTTTTCTCATTGCATTGATGAAATTCTTTTATGTGGGGGTGGTGAACACTCAATTCCCATGTTAACTAGCCTACCAGATTGAAAGTTCAAGAAGCCTGCTCTCACAGGATCCTTTGCTGATCTTCCAAGGTGGAATGTGGATAGAAATGTTTATTGAATGATCTGAGATGACACTGGAGTCATTGGCATCGGTGGCTATTAACCTTGTCAAGAATAACCTTTGGCATGTTCAAAAATGAAAGCTGCAGTGTTGGTGCAGATTTTATTTTCTATTTTTATCTCTGTTTACATGGTGTTTGGCCCACAGTAGACAATCAGTAACTGTTGAATGAGATAAATGATTGCATACATGTAAAAATGAATGGCTGCCCCGTATTGAAATGTATTAGAAGATGAAGTGCGTCAGAAGAAGATAACATCACTCATTTTTCTCCAGGTGAAGGGAATTTGGCCGCAGCCCATGCCAACACTGGTCCCGAGGAGTCAGAAAATGAGGATGATGGGTATGATGTCCCAAAGCCACCTGTGCCGGCCGTGCTGGCCCGCCGAACTCTCTCAGATATCTCTAATGCCAGCTCCTCCTTTGGCTGGTTGTCTCTGGATGGTGATCCTACAACAAGTGAGTCTCCAGACTACTTTGGGTTTGTCCTGAATGGCAGTGTGGCCTGTATGTTTATATTGAAAGGGAGATGACCTTCTCTGGTGACAGTAAGTCAGTATGTAGGCTAAACATTATGTCTAAATGGGAGGAAAGTCCCAAGTTAGGAAGTTAGACTGTAGTCAGACTCTTTAGGATTTTTGCAGACTTAGAAAAGAGGTCATTCCTTAAACTCTGGCTCTTCTTATGTTAGGGGTAGGTAGGATTTATAGTTTCTCTGAGTATGCCTTATGACACTGGTAATTAGGCTTGATGGCTCAGAGCACACATTCCTTTTTCCTGGGCTCTGTTCCATTGGAAAGAAGGCATGCTAGCTCTGGAACACACACTGAATGGGCCTGGAGCCAGCCCATGTTGGGCCTTGACTACTGGAGGCTGCTCTTCTTGCACCTGTGGCTGCCTGGTAGGGCAGCAGCCAGAGTTGCTGTCACTTTGGAATTGAAGACAGCCTTCAGGACAGACAGCTGGTGAAAAAGAATACAGCCTTCGCTTGCCCAGACGAGCAATGTCCCCCACTCAGCCTTGGCTAATGCTTCTTCATTGCAACTTATATCTGTCTTTTTCCTTATTTGTAGAAGGCGAAGTTTAGTATCTTTGGTCCCCTCAGAATTAAAACAGACAATTACATGTGCACAAACATGTTGCTTAGTGTAAAGCATGATGCAGATGTTTATGATTGCAGTGGTTATTGTTCATAGGACAGGTGCATGGTATATTTAGAAGGTTGTTTTTATTGTGATGAGGAGGCTATATCTTAAAACCCTTGAACCTGTAAAACCCAGCCTTGTGACTGAAGAGCACATGTACCCAGTTTACAGGAAGTCAGTAATATCTTGATATTAGCACATTTTTATTGCTGTTGTTAAATGAGGATTTCCCCAGATTTGCAAATATTTTCTTTCCTATTTCTTCTAGATGTCACTGAAGGTTCCCAAGTTCCCGAGAGGCCTCCAAAACCATNNNNNNNNN | benign | 189,310 |
The mutation impacting CBL (Cbl proto-oncogene) on chromosome 11 at position 119298554: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CTTTTGACAAGCTATGCATTCCTTGAAACCATAGGTAGAGTTTAGAATTGGAATTTAGTTTACAGTTCTAACATTGTCAGAAAAAATCTTGCCGTTTCTCTAACTCTAGGGCCTGGGACTCTATAATGAAACTTCTGTGGGGGATTAGGACTAACCAGTATCTCAGGTGATTAGCCCAGTATATCACCTCTGAAGCATAAAAGCTGCACCTTTGGTCAGTTGAAAGTGACATTTTTAGTTAGTGTACTTTTGCTAATTACTTGTCTTGGTCAGCAGAAATAATAGTTCCCTAGGTGACATGTATTTTGCTCTGTTCAATTTGAGTTATGTCTGTTTTTAAGCCATTTATTTTATACTTCAAAGTTTACTGGTTTGTTACTTCTTTTTCTATTTTTTATTCTTCATCTTCCAGACCTCTTCCTGTGCCAAAACTGCCACCTGGGGAGCAATGTGAGGGTGAAGAGGACACAGAGTACATGACTCCCTCTTCCAGGCCTCTACGGCCTTTGGATACATCCCAGAGTTCACGGTAGGTTCACAACAACCCTTTTTGGGCCCTATACCTTTATGTGGGTAATTGACACCCTTCACCTGCTTGGCTTGCTACCTGCACATACTGTTATCCAGTCAGATTAAAGCAGAAAGATAAAGATAAATCTAGCCCTTAATGGTTTAAGCCTTTTGTAGCTGTAGGTAATTACACTTATGTTTTCTCAGCAACATGAGAACCTCAAAAACACATACACCTATAACTTGCCACAAGAGTCAACTTTAACATTTATTAGTGATATTGGCAAAACGAGAAGATGAATCTTCATAAGTTTATAGATAACAGTTCTATTTCCAAAGATCATTATGGCACTTTCCTTCTGGTTCAGAGCATGTGATTGCGACCAGCAGATTGATAGCTGTACGTATGAAGCAATGTATAATATTCAGTCCCAGGCGCCATCTATCACCGAGAGCAGCACCTTTGGTAAGTTGCCATTCTGCTACTTTAAAAATCATTGATATGTCATAGGAATGAACATGTAATATTTGGCAATTGAGATAGCTTGATCTAAGCTCAAAATTCTTCTGTAGCTGGGACTACAGGTACGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGGTGATCCACCCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCACGCCCAGACAAAGCTGAAAATTATTTTCAGTAATCTTTGGCAAAATATCTTTGACATGGGCAGTAAAGTATCCCCAATCCTTTATTTCCTACTCACACTGCTGGTTCCTTTTGTGCTTTTCTTTGTCCTTCCAGGGCCTAGAGACATTTGTGTTCTATACTCTGGACCTGTAAGCTCCTTTTTTTTCTCATTGCATTGATGAAATTCTTTTATGTGGGGGTGGTGAACACTCAATTCCCATGTTAACTAGCCTACCAGATTGAAAGTTCAAGAAGCCTGCTCTCACAGGATCCTTTGCTGATCTTCCAAGGTGGAATGTGGATAGAAATGTTTATTGAATGATCTGAGATGACACTGGAGTCATTGGCATCGGTGGCTATTAACCTTGTCAAGAATAACCTTTGGCATGTTCAAAAATGAAAGCTGCAGTGTTGGTGCAGATTTTATTTTCTATTTTTATCTCTGTTTACATGGTGTTTGGCCCACAGTAGACAATCAGTAACTGTTGAATGAGATAAATGATTGCATACATGTAAAAATGAATGGCTGCCCCGTATTGAAATGTATTAGAAGATGAAGTGCGTCAGAAGAAGATAACATCACTCATTTTTCTCCAGGTGAAGGGAATTTGGCCGCAGCCCATGCCAACACTGGTCCCGAGGAGTCAGAAAATGAGGATGATGGGTATGATGTCCCAAAGCCACCTGTGCCGGCCGTGCTGGCCCGCCGAACTCTCTCAGATATCTCTAATGCCAGCTCCTCCTTTGGCTGGTTGTCTCTGGATGGTGATCCTACAACAAGTGAGTCTCCAGACTACTTTGGGTTTGTCCTGAATGGCAGTGTGGCCTGTATGTTTATATTGAAAGGGAGATGACCTTCTCTGGTGACAGTAAGTCAGTATGTAGGCTAAACATTATGTCTAAATGGGAGGAAAGTCCCAAGTTAGGAAGTTAGACTGTAGTCAGACTCTTTAGGATTTTTGCAGACTTAGAAAAGAGGTCATTCCTTAAACTCTGGCTCTTCTTATGTTAGGGGTAGGTAGGATTTATAGTTTCTCTGAGTATGCCTTATGACACTGGTAATTAGGCTTGATGGCTCAGAGCACACATTCCTTTTTCCTGGGCTCTGTTCCATTGGAAAGAAGGCATGCTAGCTCTGGAACACACACTGAATGGGCCTGGAGCCAGCCCATGTTGGGCCTTGACTACTGGAGGCTGCTCTTCTTGCACCTGTGGCTGCCTGGTAGGGCAGCAGCCAGAGTTGCTGTCACTTTGGAATTGAAGACAGCCTTCAGGACAGACAGCTGGTGAAAAAGAATACAGCCTTCGCTTGCCCAGACGAGCAATGTCCCCCACTCAGCCTTGGCTAATGCTTCTTCATTGCAACTTATATCTGTCTTTTTCCTTATTTGTAGAAGGCGAAGTTTAGTATCTTTGGTCCCCTCAGAATTAAAACAGACAATTACATGTGCACAAACATGTTGCTTAGTGTAAAGCATGATGCAGATGTTTATGATTGCAGTGGTTATTGTTCATAGGACAGGTGCATGGTATATTTAGAAGGTTGTTTTTATTGTGATGAGGAGGCTATATCTTAAAACCCTTGAACCTGTAAAACCCAGCCTTGTGACTGAAGAGCACATGTACCCAGTTTACAGGAAGTCAGTAATATCTTGATATTAGCACATTTTTATTGCTGTTGTTAAATGAGGATTTCCCCAGATTTGCAAATATTTTCTTTCCTATTTCTTCTAGATGTCACTGAAGGTTCCCAAGTTCCCGAGAGGCCTCCAAAACCATTCCCGCGGAGAATCAACTCTGAACGGAAAGCTGGCAGCTGTCAGCAAGGTAGTGGTCCTGCCGCCTCTGCTGCCACCGCCTCACCTCAGCTCTCCAGTGAGATCGAGAACCTCATGAGTCAGGGGTACTCCTACCAGGACATCCAGAAAGCTTTGGTCATTGCCCAGAACAACATCGAGATGGCCAAAAACATCCTCCGGGAATTTGTTTCCATTTCTTCTCCTGCCCATGTAGCTACCTAGCACACCATCTCCCTGCTGCAGGTTTAGAGGACCAGTGAGTTGGGAGTTATTACTCAAGTGGCACCTAGAAGGGCAGGAGTTCCTTTGGTGACTTCACAGTGAAGTCTTGCCCTCTCTGTGGGATATCACATCAGTGGTTCCAAGATTTCAAAGTGGTGAAATGAAAATGGAGCAGCTAGTATGTTTTATTATTTTATGGGTCTTGAGTGCATTTGAAGGTGTCCTTCAGTTCCCACGTAGAGAGAGTGTGGATTATATTACATGATAACCTACCTGGGGAACAGTCCAGAAAGCTATAGAACAAGTATTTTGCTGGAAATCCTAATTGAGGACTTAAGACTTCCTGGGTTAAGGATGTGGCCGTGTGTGTGTGTGTCTGCCTGTGGTTGTATGTGTCCTTGTGATTATAAGATTAACCTGCTGTGTGTGTTAATTCCAGGCAGGGAATTAGCACAAAAGGTTTAGGAAGGAATCTTTTTTTAAAGACTTCCATCTACTGTGGTATTATACCCAAGCCTAGTGTGTATTACAACTTCAACACTCCCCTTTGGCTTATATTACCATGTGCATAGCTAAAGTCTTCTATTTTTAGAACACCTTCTGTCTGTTCTTTCCCCATCAACTCCTTCCTCATCCTTCTTGGTGTTCTGTCATGGGCCATGGGCTTGCTATGGCCAGCCTTACTGAGGCCAAGCAGCTTATGGGATGTTCTTTATTGTGTGTGATGGTATTGGTTTGTTTGGTAGATAAGTGGGAGGAAAAGTACTGTTGCTACACTATTATAGGCATGTTTGATACTAGCAGCTAACACTGGTCACTC | CTTTTGACAAGCTATGCATTCCTTGAAACCATAGGTAGAGTTTAGAATTGGAATTTAGTTTACAGTTCTAACATTGTCAGAAAAAATCTTGCCGTTTCTCTAACTCTAGGGCCTGGGACTCTATAATGAAACTTCTGTGGGGGATTAGGACTAACCAGTATCTCAGGTGATTAGCCCAGTATATCACCTCTGAAGCATAAAAGCTGCACCTTTGGTCAGTTGAAAGTGACATTTTTAGTTAGTGTACTTTTGCTAATTACTTGTCTTGGTCAGCAGAAATAATAGTTCCCTAGGTGACATGTATTTTGCTCTGTTCAATTTGAGTTATGTCTGTTTTTAAGCCATTTATTTTATACTTCAAAGTTTACTGGTTTGTTACTTCTTTTTCTATTTTTTATTCTTCATCTTCCAGACCTCTTCCTGTGCCAAAACTGCCACCTGGGGAGCAATGTGAGGGTGAAGAGGACACAGAGTACATGACTCCCTCTTCCAGGCCTCTACGGCCTTTGGATACATCCCAGAGTTCACGGTAGGTTCACAACAACCCTTTTTGGGCCCTATACCTTTATGTGGGTAATTGACACCCTTCACCTGCTTGGCTTGCTACCTGCACATACTGTTATCCAGTCAGATTAAAGCAGAAAGATAAAGATAAATCTAGCCCTTAATGGTTTAAGCCTTTTGTAGCTGTAGGTAATTACACTTATGTTTTCTCAGCAACATGAGAACCTCAAAAACACATACACCTATAACTTGCCACAAGAGTCAACTTTAACATTTATTAGTGATATTGGCAAAACGAGAAGATGAATCTTCATAAGTTTATAGATAACAGTTCTATTTCCAAAGATCATTATGGCACTTTCCTTCTGGTTCAGAGCATGTGATTGCGACCAGCAGATTGATAGCTGTACGTATGAAGCAATGTATAATATTCAGTCCCAGGCGCCATCTATCACCGAGAGCAGCACCTTTGGTAAGTTGCCATTCTGCTACTTTAAAAATCATTGATATGTCATAGGAATGAACATGTAATATTTGGCAATTGAGATAGCTTGATCTAAGCTCAAAATTCTTCTGTAGCTGGGACTACAGGTACGTGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGGTGATCCACCCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCACGCCCAGACAAAGCTGAAAATTATTTTCAGTAATCTTTGGCAAAATATCTTTGACATGGGCAGTAAAGTATCCCCAATCCTTTATTTCCTACTCACACTGCTGGTTCCTTTTGTGCTTTTCTTTGTCCTTCCAGGGCCTAGAGACATTTGTGTTCTATACTCTGGACCTGTAAGCTCCTTTTTTTTCTCATTGCATTGATGAAATTCTTTTATGTGGGGGTGGTGAACACTCAATTCCCATGTTAACTAGCCTACCAGATTGAAAGTTCAAGAAGCCTGCTCTCACAGGATCCTTTGCTGATCTTCCAAGGTGGAATGTGGATAGAAATGTTTATTGAATGATCTGAGATGACACTGGAGTCATTGGCATCGGTGGCTATTAACCTTGTCAAGAATAACCTTTGGCATGTTCAAAAATGAAAGCTGCAGTGTTGGTGCAGATTTTATTTTCTATTTTTATCTCTGTTTACATGGTGTTTGGCCCACAGTAGACAATCAGTAACTGTTGAATGAGATAAATGATTGCATACATGTAAAAATGAATGGCTGCCCCGTATTGAAATGTATTAGAAGATGAAGTGCGTCAGAAGAAGATAACATCACTCATTTTTCTCCAGGTGAAGGGAATTTGGCCGCAGCCCATGCCAACACTGGTCCCGAGGAGTCAGAAAATGAGGATGATGGGTATGATGTCCCAAAGCCACCTGTGCCGGCCGTGCTGGCCCGCCGAACTCTCTCAGATATCTCTAATGCCAGCTCCTCCTTTGGCTGGTTGTCTCTGGATGGTGATCCTACAACAAGTGAGTCTCCAGACTTACTTTGGGTTTGTCCTGAATGGCAGTGTGGCCTGTATGTTTATATTGAAAGGGAGATGACCTTCTCTGGTGACAGTAAGTCAGTATGTAGGCTAAACATTATGTCTAAATGGGAGGAAAGTCCCAAGTTAGGAAGTTAGACTGTAGTCAGACTCTTTAGGATTTTTGCAGACTTAGAAAAGAGGTCATTCCTTAAACTCTGGCTCTTCTTATGTTAGGGGTAGGTAGGATTTATAGTTTCTCTGAGTATGCCTTATGACACTGGTAATTAGGCTTGATGGCTCAGAGCACACATTCCTTTTTCCTGGGCTCTGTTCCATTGGAAAGAAGGCATGCTAGCTCTGGAACACACACTGAATGGGCCTGGAGCCAGCCCATGTTGGGCCTTGACTACTGGAGGCTGCTCTTCTTGCACCTGTGGCTGCCTGGTAGGGCAGCAGCCAGAGTTGCTGTCACTTTGGAATTGAAGACAGCCTTCAGGACAGACAGCTGGTGAAAAAGAATACAGCCTTCGCTTGCCCAGACGAGCAATGTCCCCCACTCAGCCTTGGCTAATGCTTCTTCATTGCAACTTATATCTGTCTTTTTCCTTATTTGTAGAAGGCGAAGTTTAGTATCTTTGGTCCCCTCAGAATTAAAACAGACAATTACATGTGCACAAACATGTTGCTTAGTGTAAAGCATGATGCAGATGTTTATGATTGCAGTGGTTATTGTTCATAGGACAGGTGCATGGTATATTTAGAAGGTTGTTTTTATTGTGATGAGGAGGCTATATCTTAAAACCCTTGAACCTGTAAAACCCAGCCTTGTGACTGAAGAGCACATGTACCCAGTTTACAGGAAGTCAGTAATATCTTGATATTAGCACATTTTTATTGCTGTTGTTAAATGAGGATTTCCCCAGATTTGCAAATATTTTCTTTCCTATTTCTTCTAGATGTCACTGAAGGTTCCCAAGTTCCCGAGAGGCCTCCAAAACCATTCCCGCGGAGAATCAACTCTGAACGGAAAGCTGGCAGCTGTCAGCAAGGTAGTGGTCCTGCCGCCTCTGCTGCCACCGCCTCACCTCAGCTCTCCAGTGAGATCGAGAACCTCATGAGTCAGGGGTACTCCTACCAGGACATCCAGAAAGCTTTGGTCATTGCCCAGAACAACATCGAGATGGCCAAAAACATCCTCCGGGAATTTGTTTCCATTTCTTCTCCTGCCCATGTAGCTACCTAGCACACCATCTCCCTGCTGCAGGTTTAGAGGACCAGTGAGTTGGGAGTTATTACTCAAGTGGCACCTAGAAGGGCAGGAGTTCCTTTGGTGACTTCACAGTGAAGTCTTGCCCTCTCTGTGGGATATCACATCAGTGGTTCCAAGATTTCAAAGTGGTGAAATGAAAATGGAGCAGCTAGTATGTTTTATTATTTTATGGGTCTTGAGTGCATTTGAAGGTGTCCTTCAGTTCCCACGTAGAGAGAGTGTGGATTATATTACATGATAACCTACCTGGGGAACAGTCCAGAAAGCTATAGAACAAGTATTTTGCTGGAAATCCTAATTGAGGACTTAAGACTTCCTGGGTTAAGGATGTGGCCGTGTGTGTGTGTGTCTGCCTGTGGTTGTATGTGTCCTTGTGATTATAAGATTAACCTGCTGTGTGTGTTAATTCCAGGCAGGGAATTAGCACAAAAGGTTTAGGAAGGAATCTTTTTTTAAAGACTTCCATCTACTGTGGTATTATACCCAAGCCTAGTGTGTATTACAACTTCAACACTCCCCTTTGGCTTATATTACCATGTGCATAGCTAAAGTCTTCTATTTTTAGAACACCTTCTGTCTGTTCTTTCCCCATCAACTCCTTCCTCATCCTTCTTGGTGTTCTGTCATGGGCCATGGGCTTGCTATGGCCAGCCTTACTGAGGCCAAGCAGCTTATGGGATGTTCTTTATTGTGTGTGATGGTATTGGTTTGTTTGGTAGATAAGTGGGAGGAAAAGTACTGTTGCTACACTATTATAGGCATGTTTGATACTAGCAGCTAACACTGGTCACT | benign | 189,327 |
Is chromosome 11, position 119300340, gene CBL (Cbl proto-oncogene) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CCGTATTGAAATGTATTAGAAGATGAAGTGCGTCAGAAGAAGATAACATCACTCATTTTTCTCCAGGTGAAGGGAATTTGGCCGCAGCCCATGCCAACACTGGTCCCGAGGAGTCAGAAAATGAGGATGATGGGTATGATGTCCCAAAGCCACCTGTGCCGGCCGTGCTGGCCCGCCGAACTCTCTCAGATATCTCTAATGCCAGCTCCTCCTTTGGCTGGTTGTCTCTGGATGGTGATCCTACAACAAGTGAGTCTCCAGACTACTTTGGGTTTGTCCTGAATGGCAGTGTGGCCTGTATGTTTATATTGAAAGGGAGATGACCTTCTCTGGTGACAGTAAGTCAGTATGTAGGCTAAACATTATGTCTAAATGGGAGGAAAGTCCCAAGTTAGGAAGTTAGACTGTAGTCAGACTCTTTAGGATTTTTGCAGACTTAGAAAAGAGGTCATTCCTTAAACTCTGGCTCTTCTTATGTTAGGGGTAGGTAGGATTTATAGTTTCTCTGAGTATGCCTTATGACACTGGTAATTAGGCTTGATGGCTCAGAGCACACATTCCTTTTTCCTGGGCTCTGTTCCATTGGAAAGAAGGCATGCTAGCTCTGGAACACACACTGAATGGGCCTGGAGCCAGCCCATGTTGGGCCTTGACTACTGGAGGCTGCTCTTCTTGCACCTGTGGCTGCCTGGTAGGGCAGCAGCCAGAGTTGCTGTCACTTTGGAATTGAAGACAGCCTTCAGGACAGACAGCTGGTGAAAAAGAATACAGCCTTCGCTTGCCCAGACGAGCAATGTCCCCCACTCAGCCTTGGCTAATGCTTCTTCATTGCAACTTATATCTGTCTTTTTCCTTATTTGTAGAAGGCGAAGTTTAGTATCTTTGGTCCCCTCAGAATTAAAACAGACAATTACATGTGCACAAACATGTTGCTTAGTGTAAAGCATGATGCAGATGTTTATGATTGCAGTGGTTATTGTTCATAGGACAGGTGCATGGTATATTTAGAAGGTTGTTTTTATTGTGATGAGGAGGCTATATCTTAAAACCCTTGAACCTGTAAAACCCAGCCTTGTGACTGAAGAGCACATGTACCCAGTTTACAGGAAGTCAGTAATATCTTGATATTAGCACATTTTTATTGCTGTTGTTAAATGAGGATTTCCCCAGATTTGCAAATATTTTCTTTCCTATTTCTTCTAGATGTCACTGAAGGTTCCCAAGTTCCCGAGAGGCCTCCAAAACCATTCCCGCGGAGAATCAACTCTGAACGGAAAGCTGGCAGCTGTCAGCAAGGTAGTGGTCCTGCCGCCTCTGCTGCCACCGCCTCACCTCAGCTCTCCAGTGAGATCGAGAACCTCATGAGTCAGGGGTACTCCTACCAGGACATCCAGAAAGCTTTGGTCATTGCCCAGAACAACATCGAGATGGCCAAAAACATCCTCCGGGAATTTGTTTCCATTTCTTCTCCTGCCCATGTAGCTACCTAGCACACCATCTCCCTGCTGCAGGTTTAGAGGACCAGTGAGTTGGGAGTTATTACTCAAGTGGCACCTAGAAGGGCAGGAGTTCCTTTGGTGACTTCACAGTGAAGTCTTGCCCTCTCTGTGGGATATCACATCAGTGGTTCCAAGATTTCAAAGTGGTGAAATGAAAATGGAGCAGCTAGTATGTTTTATTATTTTATGGGTCTTGAGTGCATTTGAAGGTGTCCTTCAGTTCCCACGTAGAGAGAGTGTGGATTATATTACATGATAACCTACCTGGGGAACAGTCCAGAAAGCTATAGAACAAGTATTTTGCTGGAAATCCTAATTGAGGACTTAAGACTTCCTGGGTTAAGGATGTGGCCGTGTGTGTGTGTGTCTGCCTGTGGTTGTATGTGTCCTTGTGATTATAAGATTAACCTGCTGTGTGTGTTAATTCCAGGCAGGGAATTAGCACAAAAGGTTTAGGAAGGAATCTTTTTTTAAAGACTTCCATCTACTGTGGTATTATACCCAAGCCTAGTGTGTATTACAACTTCAACACTCCCCTTTGGCTTATATTACCATGTGCATAGCTAAAGTCTTCTATTTTTAGAACACCTTCTGTCTGTTCTTTCCCCATCAACTCCTTCCTCATCCTTCTTGGTGTTCTGTCATGGGCCATGGGCTTGCTATGGCCAGCCTTACTGAGGCCAAGCAGCTTATGGGATGTTCTTTATTGTGTGTGATGGTATTGGTTTGTTTGGTAGATAAGTGGGAGGAAAAGTACTGTTGCTACACTATTATAGGCATGTTTGATACTAGCAGCTAACACTGGTCACTCCAAAGCACTGTTTCTATAGGAACATTGAAGCTATTAAGATGTTTTGATTATCCTAATTACATAATGACCGATTTGAGATAGAGGCCTTTAAATACATTCCATGCCCTCCCCAGAAAATAGTCTGTGGGAGTCAGTTGCCTTGGTGCCAGGTATGTGTTCTGATGTAGGTCATGAGTCTTTCTACTTAATGGGAAGGGAAGAACATTTGTTTCCAGGATGACTTTCTGGCCAGAATACCGGAAAGCTTTTAGGAAGCTTCGTTCACATGCTATTTAAATGCACAAAATAGACAGTAAGGATTTATCTGTTCAGTTTTTCTTCCCAGTGAATTAATTTCAGCTTATATGGGTGTCTTCATTTGAACATGAGGAATATTAGGTTATATTTTCAGCAGTGGTTTTTTCCTTTGCCCTTTAAGGAGTGGGGATAATGTCCACGGTGGCCCAGCCTCTTGCTGATGGCACCTTCCCTGCATTGCTGCCTCCCGATGATGTGGTTCTTTTCTTGTGCCTGTGGCTTTGGGAATGTAACATCTCTTTCCTCCTTTCCTTCCCTTTTCCTCTTCACCTGAGGTCCTAAATACTCTCTGTAATTACTGTGTTCTTCACGGTAATTAGACATCATTCAGTGAATAAATTACTGTAGTCAAAGACAGTATGGGCTGGCAGTTTGTGTAATTGCAAGTTCATAAAGAGAATTGAGGGTCCAGTTGGGAGAACTATTAGTCAGTTCTTTTATATGCTGATAAATGATCCCTCGAGTTCAGTTAGTATTCTGTCCAGAGTGTTTAGCTCACTTTCTTAGCAGTGTGTAAGCTTTCTCCATGTCAGAAGCAAGCCTGCTCTTTGATAAATCTGTCTTCCTGAAAATCTAAATCATGCTTTTGTCTTTAGATCTACACAGAAATGACCCTCCTTGGATCAGTTTTCTTTCCAGTCTAATCATCTTTGGAACTAAAACTTGTTCTAACTCGTCTCTTGGCATTCAGCTACTCCTAGATCTTTTGGTTTTATCCCCTGGCCTCAGAGCCATTTATATTCCCAGAGTAGGCAGTACAGGATCTCGTGTTGATTTGCTGTGGTTACCCAGTGTCTTCTCTACATGGCATAAAGCGGCAAAGCCCACCATTAGGTGAGGCGGTCCCGAGTTGAGGTAGAGTGGGGCAGAGGAAGATGGCAGTGAATATCAAACAGTAGACCGCCATCAACTTCTAACAGCCAGTACACACACTGTTTCATTTTGAGGTAACGTTCAGTTTTGCATTTTGTTTAAATATTGAAGGCCTAGACAAAGAACTAGAAAAAAAAAAGCAGTTTCCAGGCCCATCCATATTGTAATTTTTCTTTATCTGCAGATATTGCCTGTAGTCTAAAGATCTCTTTGGAAGACAAAGCATTGGCTATATATCTTTTGCCTTTTCCATGCATCTAAATCTTCTCTGGAGATTATCTCCCTACTGTGTAGGTTAAGGGCAGTCTCGACTTTTCCTTTTTTGAGTCCTGTGTGGCTCTTTGAATCAGCGTGAAACTGAGGCTCCAGCTCCCTGTGTTGTGTGTGTGTGCCATCCATGGGCTTGGGTGTCAGTTTGTCACAGGTATCTGCCAGCATTCAAGGTTTTGGATCATTTCATGAGGATCTTTCCTTTGACTGGGTGCTGTGAGGACACACCTGGGTCTGTGCCTGAGATTGCCAGGCAAGATTAAGGAAAGTTTTCATGTGGCTTTTGTTTTGAGGTTATTCTCAAAACCTTAATTTCTTATATTTTCTGTTGACTAAGGCACCAGTA | CCGTATTGAAATGTATTAGAAGATGAAGTGCGTCAGAAGAAGATAACATCACTCATTTTTCTCCAGGTGAAGGGAATTTGGCCGCAGCCCATGCCAACACTGGTCCCGAGGAGTCAGAAAATGAGGATGATGGGTATGATGTCCCAAAGCCACCTGTGCCGGCCGTGCTGGCCCGCCGAACTCTCTCAGATATCTCTAATGCCAGCTCCTCCTTTGGCTGGTTGTCTCTGGATGGTGATCCTACAACAAGTGAGTCTCCAGACTACTTTGGGTTTGTCCTGAATGGCAGTGTGGCCTGTATGTTTATATTGAAAGGGAGATGACCTTCTCTGGTGACAGTAAGTCAGTATGTAGGCTAAACATTATGTCTAAATGGGAGGAAAGTCCCAAGTTAGGAAGTTAGACTGTAGTCAGACTCTTTAGGATTTTTGCAGACTTAGAAAAGAGGTCATTCCTTAAACTCTGGCTCTTCTTATGTTAGGGGTAGGTAGGATTTATAGTTTCTCTGAGTATGCCTTATGACACTGGTAATTAGGCTTGATGGCTCAGAGCACACATTCCTTTTTCCTGGGCTCTGTTCCATTGGAAAGAAGGCATGCTAGCTCTGGAACACACACTGAATGGGCCTGGAGCCAGCCCATGTTGGGCCTTGACTACTGGAGGCTGCTCTTCTTGCACCTGTGGCTGCCTGGTAGGGCAGCAGCCAGAGTTGCTGTCACTTTGGAATTGAAGACAGCCTTCAGGACAGACAGCTGGTGAAAAAGAATACAGCCTTCGCTTGCCCAGACGAGCAATGTCCCCCACTCAGCCTTGGCTAATGCTTCTTCATTGCAACTTATATCTGTCTTTTTCCTTATTTGTAGAAGGCGAAGTTTAGTATCTTTGGTCCCCTCAGAATTAAAACAGACAATTACATGTGCACAAACATGTTGCTTAGTGTAAAGCATGATGCAGATGTTTATGATTGCAGTGGTTATTGTTCATAGGACAGGTGCATGGTATATTTAGAAGGTTGTTTTTATTGTGATGAGGAGGCTATATCTTAAAACCCTTGAACCTGTAAAACCCAGCCTTGTGACTGAAGAGCACATGTACCCAGTTTACAGGAAGTCAGTAATATCTTGATATTAGCACATTTTTATTGCTGTTGTTAAATGAGGATTTCCCCAGATTTGCAAATATTTTCTTTCCTATTTCTTCTAGATGTCACTGAAGGTTCCCAAGTTCCCGAGAGGCCTCCAAAACCATTCCCGCGGAGAATCAACTCTGAACGGAAAGCTGGCAGCTGTCAGCAAGGTAGTGGTCCTGCCGCCTCTGCTGCCACCGCCTCACCTCAGCTCTCCAGTGAGATCGAGAACCTCATGAGTCAGGGGTACTCCTACCAGGACATCCAGAAAGCTTTGGTCATTGCCCAGAACAACATCGAGATGGCCAAAAACATCCTCCGGGAATTTGTTTCCATTTCTTCTCCTGCCCATGTAGCTACCTAGCACACCATCTCCCTGCTGCAGGTTTAGAGGACCAGTGAGTTGGGAGTTATTACTCAAGTGGCACCTAGAAGGGCAGGAGTTCCTTTGGTGACTTCACAGTGAAGTCTTGCCCTCTCTGTGGGATATCACATCAGTGGTTCCAAGATTTCAAAGTGGTGAAATGAAAATGGAGCAGCTAGTATGTTTTATTATTTTATGGGTCTTGAGTGCATTTGAAGGTGTCCTTCAGTTCCCACGTAGAGAGAGTGTGGATTATATTACATGATAACCTACCTGGGGAACAGTCCAGAAAGCTATAGAACAAGTATTTTGCTGGAAATCCTAATTGAGGACTTAAGACTTCCTGGGTTAAGGATGTGGCCGTGTGTGTGTGTGTCTGCCTGTGGTTGTATGTGTCCTTGTGATTATAAGATTAACCTGCTGTGTGTGTTAATTCCAGGCAGGGAATTAGCACAAAAGGTTTAGGAAGGAATCTTTTTTTAAAGACTTCCATCTACTGTGGTATTATACCCAAGCCTAGTGTGTATTACAACTTCAACACTCCCCTTTGGCTTATATTCACCATGTGCATAGCTAAAGTCTTCTATTTTTAGAACACCTTCTGTCTGTTCTTTCCCCATCAACTCCTTCCTCATCCTTCTTGGTGTTCTGTCATGGGCCATGGGCTTGCTATGGCCAGCCTTACTGAGGCCAAGCAGCTTATGGGATGTTCTTTATTGTGTGTGATGGTATTGGTTTGTTTGGTAGATAAGTGGGAGGAAAAGTACTGTTGCTACACTATTATAGGCATGTTTGATACTAGCAGCTAACACTGGTCACTCCAAAGCACTGTTTCTATAGGAACATTGAAGCTATTAAGATGTTTTGATTATCCTAATTACATAATGACCGATTTGAGATAGAGGCCTTTAAATACATTCCATGCCCTCCCCAGAAAATAGTCTGTGGGAGTCAGTTGCCTTGGTGCCAGGTATGTGTTCTGATGTAGGTCATGAGTCTTTCTACTTAATGGGAAGGGAAGAACATTTGTTTCCAGGATGACTTTCTGGCCAGAATACCGGAAAGCTTTTAGGAAGCTTCGTTCACATGCTATTTAAATGCACAAAATAGACAGTAAGGATTTATCTGTTCAGTTTTTCTTCCCAGTGAATTAATTTCAGCTTATATGGGTGTCTTCATTTGAACATGAGGAATATTAGGTTATATTTTCAGCAGTGGTTTTTTCCTTTGCCCTTTAAGGAGTGGGGATAATGTCCACGGTGGCCCAGCCTCTTGCTGATGGCACCTTCCCTGCATTGCTGCCTCCCGATGATGTGGTTCTTTTCTTGTGCCTGTGGCTTTGGGAATGTAACATCTCTTTCCTCCTTTCCTTCCCTTTTCCTCTTCACCTGAGGTCCTAAATACTCTCTGTAATTACTGTGTTCTTCACGGTAATTAGACATCATTCAGTGAATAAATTACTGTAGTCAAAGACAGTATGGGCTGGCAGTTTGTGTAATTGCAAGTTCATAAAGAGAATTGAGGGTCCAGTTGGGAGAACTATTAGTCAGTTCTTTTATATGCTGATAAATGATCCCTCGAGTTCAGTTAGTATTCTGTCCAGAGTGTTTAGCTCACTTTCTTAGCAGTGTGTAAGCTTTCTCCATGTCAGAAGCAAGCCTGCTCTTTGATAAATCTGTCTTCCTGAAAATCTAAATCATGCTTTTGTCTTTAGATCTACACAGAAATGACCCTCCTTGGATCAGTTTTCTTTCCAGTCTAATCATCTTTGGAACTAAAACTTGTTCTAACTCGTCTCTTGGCATTCAGCTACTCCTAGATCTTTTGGTTTTATCCCCTGGCCTCAGAGCCATTTATATTCCCAGAGTAGGCAGTACAGGATCTCGTGTTGATTTGCTGTGGTTACCCAGTGTCTTCTCTACATGGCATAAAGCGGCAAAGCCCACCATTAGGTGAGGCGGTCCCGAGTTGAGGTAGAGTGGGGCAGAGGAAGATGGCAGTGAATATCAAACAGTAGACCGCCATCAACTTCTAACAGCCAGTACACACACTGTTTCATTTTGAGGTAACGTTCAGTTTTGCATTTTGTTTAAATATTGAAGGCCTAGACAAAGAACTAGAAAAAAAAAAGCAGTTTCCAGGCCCATCCATATTGTAATTTTTCTTTATCTGCAGATATTGCCTGTAGTCTAAAGATCTCTTTGGAAGACAAAGCATTGGCTATATATCTTTTGCCTTTTCCATGCATCTAAATCTTCTCTGGAGATTATCTCCCTACTGTGTAGGTTAAGGGCAGTCTCGACTTTTCCTTTTTTGAGTCCTGTGTGGCTCTTTGAATCAGCGTGAAACTGAGGCTCCAGCTCCCTGTGTTGTGTGTGTGTGCCATCCATGGGCTTGGGTGTCAGTTTGTCACAGGTATCTGCCAGCATTCAAGGTTTTGGATCATTTCATGAGGATCTTTCCTTTGACTGGGTGCTGTGAGGACACACCTGGGTCTGTGCCTGAGATTGCCAGGCAAGATTAAGGAAAGTTTTCATGTGGCTTTTGTTTTGAGGTTATTCTCAAAACCTTAATTTCTTATATTTTCTGTTGACTAAGGCACCAGT | benign | 189,347 |
Assess the variant on chromosome 11, position 119300341, impacting CBL (Cbl proto-oncogene): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CGTATTGAAATGTATTAGAAGATGAAGTGCGTCAGAAGAAGATAACATCACTCATTTTTCTCCAGGTGAAGGGAATTTGGCCGCAGCCCATGCCAACACTGGTCCCGAGGAGTCAGAAAATGAGGATGATGGGTATGATGTCCCAAAGCCACCTGTGCCGGCCGTGCTGGCCCGCCGAACTCTCTCAGATATCTCTAATGCCAGCTCCTCCTTTGGCTGGTTGTCTCTGGATGGTGATCCTACAACAAGTGAGTCTCCAGACTACTTTGGGTTTGTCCTGAATGGCAGTGTGGCCTGTATGTTTATATTGAAAGGGAGATGACCTTCTCTGGTGACAGTAAGTCAGTATGTAGGCTAAACATTATGTCTAAATGGGAGGAAAGTCCCAAGTTAGGAAGTTAGACTGTAGTCAGACTCTTTAGGATTTTTGCAGACTTAGAAAAGAGGTCATTCCTTAAACTCTGGCTCTTCTTATGTTAGGGGTAGGTAGGATTTATAGTTTCTCTGAGTATGCCTTATGACACTGGTAATTAGGCTTGATGGCTCAGAGCACACATTCCTTTTTCCTGGGCTCTGTTCCATTGGAAAGAAGGCATGCTAGCTCTGGAACACACACTGAATGGGCCTGGAGCCAGCCCATGTTGGGCCTTGACTACTGGAGGCTGCTCTTCTTGCACCTGTGGCTGCCTGGTAGGGCAGCAGCCAGAGTTGCTGTCACTTTGGAATTGAAGACAGCCTTCAGGACAGACAGCTGGTGAAAAAGAATACAGCCTTCGCTTGCCCAGACGAGCAATGTCCCCCACTCAGCCTTGGCTAATGCTTCTTCATTGCAACTTATATCTGTCTTTTTCCTTATTTGTAGAAGGCGAAGTTTAGTATCTTTGGTCCCCTCAGAATTAAAACAGACAATTACATGTGCACAAACATGTTGCTTAGTGTAAAGCATGATGCAGATGTTTATGATTGCAGTGGTTATTGTTCATAGGACAGGTGCATGGTATATTTAGAAGGTTGTTTTTATTGTGATGAGGAGGCTATATCTTAAAACCCTTGAACCTGTAAAACCCAGCCTTGTGACTGAAGAGCACATGTACCCAGTTTACAGGAAGTCAGTAATATCTTGATATTAGCACATTTTTATTGCTGTTGTTAAATGAGGATTTCCCCAGATTTGCAAATATTTTCTTTCCTATTTCTTCTAGATGTCACTGAAGGTTCCCAAGTTCCCGAGAGGCCTCCAAAACCATTCCCGCGGAGAATCAACTCTGAACGGAAAGCTGGCAGCTGTCAGCAAGGTAGTGGTCCTGCCGCCTCTGCTGCCACCGCCTCACCTCAGCTCTCCAGTGAGATCGAGAACCTCATGAGTCAGGGGTACTCCTACCAGGACATCCAGAAAGCTTTGGTCATTGCCCAGAACAACATCGAGATGGCCAAAAACATCCTCCGGGAATTTGTTTCCATTTCTTCTCCTGCCCATGTAGCTACCTAGCACACCATCTCCCTGCTGCAGGTTTAGAGGACCAGTGAGTTGGGAGTTATTACTCAAGTGGCACCTAGAAGGGCAGGAGTTCCTTTGGTGACTTCACAGTGAAGTCTTGCCCTCTCTGTGGGATATCACATCAGTGGTTCCAAGATTTCAAAGTGGTGAAATGAAAATGGAGCAGCTAGTATGTTTTATTATTTTATGGGTCTTGAGTGCATTTGAAGGTGTCCTTCAGTTCCCACGTAGAGAGAGTGTGGATTATATTACATGATAACCTACCTGGGGAACAGTCCAGAAAGCTATAGAACAAGTATTTTGCTGGAAATCCTAATTGAGGACTTAAGACTTCCTGGGTTAAGGATGTGGCCGTGTGTGTGTGTGTCTGCCTGTGGTTGTATGTGTCCTTGTGATTATAAGATTAACCTGCTGTGTGTGTTAATTCCAGGCAGGGAATTAGCACAAAAGGTTTAGGAAGGAATCTTTTTTTAAAGACTTCCATCTACTGTGGTATTATACCCAAGCCTAGTGTGTATTACAACTTCAACACTCCCCTTTGGCTTATATTACCATGTGCATAGCTAAAGTCTTCTATTTTTAGAACACCTTCTGTCTGTTCTTTCCCCATCAACTCCTTCCTCATCCTTCTTGGTGTTCTGTCATGGGCCATGGGCTTGCTATGGCCAGCCTTACTGAGGCCAAGCAGCTTATGGGATGTTCTTTATTGTGTGTGATGGTATTGGTTTGTTTGGTAGATAAGTGGGAGGAAAAGTACTGTTGCTACACTATTATAGGCATGTTTGATACTAGCAGCTAACACTGGTCACTCCAAAGCACTGTTTCTATAGGAACATTGAAGCTATTAAGATGTTTTGATTATCCTAATTACATAATGACCGATTTGAGATAGAGGCCTTTAAATACATTCCATGCCCTCCCCAGAAAATAGTCTGTGGGAGTCAGTTGCCTTGGTGCCAGGTATGTGTTCTGATGTAGGTCATGAGTCTTTCTACTTAATGGGAAGGGAAGAACATTTGTTTCCAGGATGACTTTCTGGCCAGAATACCGGAAAGCTTTTAGGAAGCTTCGTTCACATGCTATTTAAATGCACAAAATAGACAGTAAGGATTTATCTGTTCAGTTTTTCTTCCCAGTGAATTAATTTCAGCTTATATGGGTGTCTTCATTTGAACATGAGGAATATTAGGTTATATTTTCAGCAGTGGTTTTTTCCTTTGCCCTTTAAGGAGTGGGGATAATGTCCACGGTGGCCCAGCCTCTTGCTGATGGCACCTTCCCTGCATTGCTGCCTCCCGATGATGTGGTTCTTTTCTTGTGCCTGTGGCTTTGGGAATGTAACATCTCTTTCCTCCTTTCCTTCCCTTTTCCTCTTCACCTGAGGTCCTAAATACTCTCTGTAATTACTGTGTTCTTCACGGTAATTAGACATCATTCAGTGAATAAATTACTGTAGTCAAAGACAGTATGGGCTGGCAGTTTGTGTAATTGCAAGTTCATAAAGAGAATTGAGGGTCCAGTTGGGAGAACTATTAGTCAGTTCTTTTATATGCTGATAAATGATCCCTCGAGTTCAGTTAGTATTCTGTCCAGAGTGTTTAGCTCACTTTCTTAGCAGTGTGTAAGCTTTCTCCATGTCAGAAGCAAGCCTGCTCTTTGATAAATCTGTCTTCCTGAAAATCTAAATCATGCTTTTGTCTTTAGATCTACACAGAAATGACCCTCCTTGGATCAGTTTTCTTTCCAGTCTAATCATCTTTGGAACTAAAACTTGTTCTAACTCGTCTCTTGGCATTCAGCTACTCCTAGATCTTTTGGTTTTATCCCCTGGCCTCAGAGCCATTTATATTCCCAGAGTAGGCAGTACAGGATCTCGTGTTGATTTGCTGTGGTTACCCAGTGTCTTCTCTACATGGCATAAAGCGGCAAAGCCCACCATTAGGTGAGGCGGTCCCGAGTTGAGGTAGAGTGGGGCAGAGGAAGATGGCAGTGAATATCAAACAGTAGACCGCCATCAACTTCTAACAGCCAGTACACACACTGTTTCATTTTGAGGTAACGTTCAGTTTTGCATTTTGTTTAAATATTGAAGGCCTAGACAAAGAACTAGAAAAAAAAAAGCAGTTTCCAGGCCCATCCATATTGTAATTTTTCTTTATCTGCAGATATTGCCTGTAGTCTAAAGATCTCTTTGGAAGACAAAGCATTGGCTATATATCTTTTGCCTTTTCCATGCATCTAAATCTTCTCTGGAGATTATCTCCCTACTGTGTAGGTTAAGGGCAGTCTCGACTTTTCCTTTTTTGAGTCCTGTGTGGCTCTTTGAATCAGCGTGAAACTGAGGCTCCAGCTCCCTGTGTTGTGTGTGTGTGCCATCCATGGGCTTGGGTGTCAGTTTGTCACAGGTATCTGCCAGCATTCAAGGTTTTGGATCATTTCATGAGGATCTTTCCTTTGACTGGGTGCTGTGAGGACACACCTGGGTCTGTGCCTGAGATTGCCAGGCAAGATTAAGGAAAGTTTTCATGTGGCTTTTGTTTTGAGGTTATTCTCAAAACCTTAATTTCTTATATTTTCTGTTGACTAAGGCACCAGTAA | CGTATTGAAATGTATTAGAAGATGAAGTGCGTCAGAAGAAGATAACATCACTCATTTTTCTCCAGGTGAAGGGAATTTGGCCGCAGCCCATGCCAACACTGGTCCCGAGGAGTCAGAAAATGAGGATGATGGGTATGATGTCCCAAAGCCACCTGTGCCGGCCGTGCTGGCCCGCCGAACTCTCTCAGATATCTCTAATGCCAGCTCCTCCTTTGGCTGGTTGTCTCTGGATGGTGATCCTACAACAAGTGAGTCTCCAGACTACTTTGGGTTTGTCCTGAATGGCAGTGTGGCCTGTATGTTTATATTGAAAGGGAGATGACCTTCTCTGGTGACAGTAAGTCAGTATGTAGGCTAAACATTATGTCTAAATGGGAGGAAAGTCCCAAGTTAGGAAGTTAGACTGTAGTCAGACTCTTTAGGATTTTTGCAGACTTAGAAAAGAGGTCATTCCTTAAACTCTGGCTCTTCTTATGTTAGGGGTAGGTAGGATTTATAGTTTCTCTGAGTATGCCTTATGACACTGGTAATTAGGCTTGATGGCTCAGAGCACACATTCCTTTTTCCTGGGCTCTGTTCCATTGGAAAGAAGGCATGCTAGCTCTGGAACACACACTGAATGGGCCTGGAGCCAGCCCATGTTGGGCCTTGACTACTGGAGGCTGCTCTTCTTGCACCTGTGGCTGCCTGGTAGGGCAGCAGCCAGAGTTGCTGTCACTTTGGAATTGAAGACAGCCTTCAGGACAGACAGCTGGTGAAAAAGAATACAGCCTTCGCTTGCCCAGACGAGCAATGTCCCCCACTCAGCCTTGGCTAATGCTTCTTCATTGCAACTTATATCTGTCTTTTTCCTTATTTGTAGAAGGCGAAGTTTAGTATCTTTGGTCCCCTCAGAATTAAAACAGACAATTACATGTGCACAAACATGTTGCTTAGTGTAAAGCATGATGCAGATGTTTATGATTGCAGTGGTTATTGTTCATAGGACAGGTGCATGGTATATTTAGAAGGTTGTTTTTATTGTGATGAGGAGGCTATATCTTAAAACCCTTGAACCTGTAAAACCCAGCCTTGTGACTGAAGAGCACATGTACCCAGTTTACAGGAAGTCAGTAATATCTTGATATTAGCACATTTTTATTGCTGTTGTTAAATGAGGATTTCCCCAGATTTGCAAATATTTTCTTTCCTATTTCTTCTAGATGTCACTGAAGGTTCCCAAGTTCCCGAGAGGCCTCCAAAACCATTCCCGCGGAGAATCAACTCTGAACGGAAAGCTGGCAGCTGTCAGCAAGGTAGTGGTCCTGCCGCCTCTGCTGCCACCGCCTCACCTCAGCTCTCCAGTGAGATCGAGAACCTCATGAGTCAGGGGTACTCCTACCAGGACATCCAGAAAGCTTTGGTCATTGCCCAGAACAACATCGAGATGGCCAAAAACATCCTCCGGGAATTTGTTTCCATTTCTTCTCCTGCCCATGTAGCTACCTAGCACACCATCTCCCTGCTGCAGGTTTAGAGGACCAGTGAGTTGGGAGTTATTACTCAAGTGGCACCTAGAAGGGCAGGAGTTCCTTTGGTGACTTCACAGTGAAGTCTTGCCCTCTCTGTGGGATATCACATCAGTGGTTCCAAGATTTCAAAGTGGTGAAATGAAAATGGAGCAGCTAGTATGTTTTATTATTTTATGGGTCTTGAGTGCATTTGAAGGTGTCCTTCAGTTCCCACGTAGAGAGAGTGTGGATTATATTACATGATAACCTACCTGGGGAACAGTCCAGAAAGCTATAGAACAAGTATTTTGCTGGAAATCCTAATTGAGGACTTAAGACTTCCTGGGTTAAGGATGTGGCCGTGTGTGTGTGTGTCTGCCTGTGGTTGTATGTGTCCTTGTGATTATAAGATTAACCTGCTGTGTGTGTTAATTCCAGGCAGGGAATTAGCACAAAAGGTTTAGGAAGGAATCTTTTTTTAAAGACTTCCATCTACTGTGGTATTATACCCAAGCCTAGTGTGTATTACAACTTCAACACTCCCCTTTGGCTTATATTAATCCATGTGCATAGCTAAAGTCTTCTATTTTTAGAACACCTTCTGTCTGTTCTTTCCCCATCAACTCCTTCCTCATCCTTCTTGGTGTTCTGTCATGGGCCATGGGCTTGCTATGGCCAGCCTTACTGAGGCCAAGCAGCTTATGGGATGTTCTTTATTGTGTGTGATGGTATTGGTTTGTTTGGTAGATAAGTGGGAGGAAAAGTACTGTTGCTACACTATTATAGGCATGTTTGATACTAGCAGCTAACACTGGTCACTCCAAAGCACTGTTTCTATAGGAACATTGAAGCTATTAAGATGTTTTGATTATCCTAATTACATAATGACCGATTTGAGATAGAGGCCTTTAAATACATTCCATGCCCTCCCCAGAAAATAGTCTGTGGGAGTCAGTTGCCTTGGTGCCAGGTATGTGTTCTGATGTAGGTCATGAGTCTTTCTACTTAATGGGAAGGGAAGAACATTTGTTTCCAGGATGACTTTCTGGCCAGAATACCGGAAAGCTTTTAGGAAGCTTCGTTCACATGCTATTTAAATGCACAAAATAGACAGTAAGGATTTATCTGTTCAGTTTTTCTTCCCAGTGAATTAATTTCAGCTTATATGGGTGTCTTCATTTGAACATGAGGAATATTAGGTTATATTTTCAGCAGTGGTTTTTTCCTTTGCCCTTTAAGGAGTGGGGATAATGTCCACGGTGGCCCAGCCTCTTGCTGATGGCACCTTCCCTGCATTGCTGCCTCCCGATGATGTGGTTCTTTTCTTGTGCCTGTGGCTTTGGGAATGTAACATCTCTTTCCTCCTTTCCTTCCCTTTTCCTCTTCACCTGAGGTCCTAAATACTCTCTGTAATTACTGTGTTCTTCACGGTAATTAGACATCATTCAGTGAATAAATTACTGTAGTCAAAGACAGTATGGGCTGGCAGTTTGTGTAATTGCAAGTTCATAAAGAGAATTGAGGGTCCAGTTGGGAGAACTATTAGTCAGTTCTTTTATATGCTGATAAATGATCCCTCGAGTTCAGTTAGTATTCTGTCCAGAGTGTTTAGCTCACTTTCTTAGCAGTGTGTAAGCTTTCTCCATGTCAGAAGCAAGCCTGCTCTTTGATAAATCTGTCTTCCTGAAAATCTAAATCATGCTTTTGTCTTTAGATCTACACAGAAATGACCCTCCTTGGATCAGTTTTCTTTCCAGTCTAATCATCTTTGGAACTAAAACTTGTTCTAACTCGTCTCTTGGCATTCAGCTACTCCTAGATCTTTTGGTTTTATCCCCTGGCCTCAGAGCCATTTATATTCCCAGAGTAGGCAGTACAGGATCTCGTGTTGATTTGCTGTGGTTACCCAGTGTCTTCTCTACATGGCATAAAGCGGCAAAGCCCACCATTAGGTGAGGCGGTCCCGAGTTGAGGTAGAGTGGGGCAGAGGAAGATGGCAGTGAATATCAAACAGTAGACCGCCATCAACTTCTAACAGCCAGTACACACACTGTTTCATTTTGAGGTAACGTTCAGTTTTGCATTTTGTTTAAATATTGAAGGCCTAGACAAAGAACTAGAAAAAAAAAAGCAGTTTCCAGGCCCATCCATATTGTAATTTTTCTTTATCTGCAGATATTGCCTGTAGTCTAAAGATCTCTTTGGAAGACAAAGCATTGGCTATATATCTTTTGCCTTTTCCATGCATCTAAATCTTCTCTGGAGATTATCTCCCTACTGTGTAGGTTAAGGGCAGTCTCGACTTTTCCTTTTTTGAGTCCTGTGTGGCTCTTTGAATCAGCGTGAAACTGAGGCTCCAGCTCCCTGTGTTGTGTGTGTGTGCCATCCATGGGCTTGGGTGTCAGTTTGTCACAGGTATCTGCCAGCATTCAAGGTTTTGGATCATTTCATGAGGATCTTTCCTTTGACTGGGTGCTGTGAGGACACACCTGGGTCTGTGCCTGAGATTGCCAGGCAAGATTAAGGAAAGTTTTCATGTGGCTTTTGTTTTGAGGTTATTCTCAAAACCTTAATTTCTTATATTTTCTGTTGACTAAGGCACCAGT | benign | 189,348 |
A mutation at chromosome position 119307357 on chromosome 11 in gene CBL (Cbl proto-oncogene): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GCCTGTTCCTGGGTAGCCTTCCTTAGCCTCCATTCAGCCTCAGGTCTTTTGCCTTCTTCCGTGTTTATTTAGAGAGCAGAATCTAATAACGGGTTCCACTGTAGCCACTATCCATGGACTTCTGGGTCCTCTTCAGGTTTGAGTGCTTGAAAATGTTCATTCTCTGGGCTTGTGGCCTGTCTCCTCCACTCTCCTCCTCACCCTCTCGCTCCTTCCTGTGTGAGGGCCGCTCTGCAGTAATGTTCTCAGGCAAGCCTTCCTAGGCACCTCAGAAACTACTTTGCCAGAGCCAGTAAGAATATATAATATTGGAGCAGTTGCCAGGATAGAAATTAAATATAGATTCCAGTTTAGGATAGAGTTTTTACCGAGAGCTCTTTAGACAGTATACCTGTGTCTTCTCTGGCAATTGCTTTCATTTTAGTCCTATATAAAAGCTTTCCTTTTCTGTTTTTTTTTAAAACTATGCTTTTGCTTGCCTAAATCTTTTGATCTTATATTTCTCTCATCTCAGAGCCTGTCCTGAGTTGTAAGGTATTTCATACTGCCTTACTTAAAAGTTTTTTAAACTACTAGAGTCATTTGATACACACAGAAGTTACCTAATAATCCAAAGATGTCCATCAAGGGAGGAAGGGTGGGTCATCAGACTTTGCCTTTGATGTTGTAGACTAGGCTCCTGAGTTAAGCAGCAGAGGGACAGCAGTGCCATGTGCCTTCACTGTGTCCCAGGAAATCTGGGTTGGTTCCAGTGGGAAATACCAGTATTTCTTGGTTCTGGAAAGTAGCAAAAGAGTAGGAGATGGGGAAATAGGGATGGGGAGAGCAAGCCCCGCATGTCCATGGCGAGTCAGGTGGGGAGCACGGGTGGAAGGGCCGGCTGTTGACAGACAGACTAAGCTGTGTGGTGCTCTTGCCGCCCCTTCCTGGGTACAGAGCTTGAGAAAAATGCAGCCGACCACTCCCTGTGTTTGTACAGAGCAAAGCCCAAAAGCCAACCTCAGATCTCCTGATTTGGCAGCTGAAGAAATCAGCAGAGTCCTGATTGCCTGATTCAGTCCCAAAAATGAATGTCAGGCCCCGCCCCCTCCCCACCAACATTGCCTCTCCTACATTCTCCTTCTGCCCCTAAATCAGACAGGAGGCCAGAGAGGAGTATTGCTCAATGCGTGCTATGTGCAACTCCTCAGGCCTTGTGCCACCTCCATGCTGAGCCCTGAAGCAGGGTGTCCTGGGTGCCTGTGTGTCAGCTCCCTCCTCTCTACCTACCTCTGACCTTCTTGTGGGTGAGGGTGGCCATGCTTATGGCCATCTTAAAACTGGAGAGGCAGAGAACTACTTATGAGTCTGTAGACCACGTGTTGTCTTCCATGGCCTGTTTCTCCTGCTGTCTGGGTGAGTGAGCCTGCAACGCAATGCCCATGAGAGTAAATGCCTCCTGACCTACCCTGCTCAGCACTGTTCTAGTGTCTTGGCCTTGAAAGAAAAGCCTGACTTCCTGCTGACACATGTGGTAGGGGCATGGCAGCTATGAGGCACCTCCTACGTCTGTTTTCTGGCTGTGGTGACTTGGGATTTTTAACCTTATATATCTTTTTCCTTTACTCAAAACAAAACAATTTTTAGCACACTGAAAAAAAAAAAAAGCCAAATGTTTTGTGCCTTTCTAAGGCAGCACTGTATCCCAGGCTGCATTTTAGGACTTAATATGGAAATACCAGAGTCTGAGCTCCTCTACCTTGAGTTTCATTAGTCCTTAGTGTCTAGGAGACAGGAAAGAATGCTCTCTGTGACTGGAGAGGTGACATGCAGGTGCAGTGTGTCTGGAGTCCCTTTCCCCTGCTGTGAGACTTCAGTGGAGGAGAGAAGCATTGTACCCTGGGATCATTTGGTTGGTTCCAATCACAAGCTTAGTTATCAGGTTGCATGCCTTGTCTCCTGCAAAAGACAGAATGTTTCACAATTCCCAGGTAAACTCTGGACCATTCCAAGTGTCCTAGCCTTCTGATGACATTAATTACCTAGTTGTGTCGAGGAGTATAGGATGGACTCTCCTGAGAAGGGGAGGTTGGTGGCTTTGTCTTTTCTTTTTGCTGGATCCTGAACTGGTCTAGACCTCCTGCCCCCACCCCCCAGCCCCCATCAGATGTGGCTGGCCTTTCATTTGAAGGCTTCAGACTTAAAGCATTAAGCAGCTAGTGCCCTCTGCAGGGCCTGGTTTCCCCAGGGAAGGGCAGCAAGGAACATGGGACCAGAAGCCTGTCCTCAGTAATGTGACTATAGTGAGCTTTAGCAAAAGTTTTTCTATATAATGACATCTTACTTATCTTTTACCCTTTCCTCAGTTTTCCCCTGCCTTTAACTAATAAAGAATTGGGAGACAGAAATTTTAAAGTCCTCCTTATTCAAGATTTTGAAATTCTTAGCCTGGGAGTGCTGGAGAGAACCTGATGCTTTCTCCAGAATGAAGAGTCCCAATTTGTATATCAGTGTTAAGAAGAAAACAAAACAAACACATAGGTGAGATTTTCGTGGACTATTTTAAAAATGTGTCATTAATATAAAAAATTTATATTAGCAGTATTTAATCATTCTCACCTGTAAAGAATAAGAAAAACAGAAGGTAAATATTCTTACAGAGAATAGCAGAGCTTTAAGATTCATTTTCATTTTAAGTCCATTTTATTTTGCCAGTGTATTAATGTTTAGAAGTCTGTTTTACTAATGTTATTTATTAATTTTTTTTCATTTCCATACACAGTTAGTTAACTAAAGAGCTTTTTCAAGCACCCATGTCTGTAAAAAAATATTTTTAAATAAAGTTTCTTTTGTTGTAGCAGACTTGAGTTCTTGCTCATTCAGGGGGTTGGGAGGCAATACTCGAGTTGCCGTAGGACCAAATGCCAAGGCCCCCTTCCTCATGGCGGTGAGCCTGAGCTGCTGTCTGGAGGGCAGTTCCAAGTGGCAGGAAAGCATAGGAAGGGGACATAGCTCCTGCTAACAGCCTGCCAGGCCCTTCGTGCTGCGTCATCAGGGCAGTTTTGCTGCTGAAAAGTAGGGTGACTGTCTGCTCTGGTAGAACTTGAGCCATTTGCTCAGAAGCAGAGGTAACCCCTGATCTCTGCTGCCAACTGGAAACGGTTTTGTGTGCCTTTTGGTTGTAGTTTCACAGGCCCCCAGGTTCCTGTGGTACCCATGATGAATAAAAAGCAATGTATGATTTCTGGGACAATTAAGCTTTATTTTTCATATATATATATATTTTCATATATATATATACATACATATATAAAGGAAACAATTTGCAAATTTACACACCTGACAAAACCATATATACACACATATGTATGCATACACACAGACAGACACACACACCCGAAGCTCTAGCCAGGCCCGTTTTCCATCCCTAAGTACCATTCTCTCATTTGGGCCCTTCTAGGGTTGGGGCCCTGAGCTTGGTTTGTAGAAGTTTGGTGCTAATATAACCATAGCTTTAATCCCCATGAAGGACAGTGTAGACCTCATCTTTGTCTGCTCCCCGCTGCCTTTCAGTTTTACGTGATCCATCAAGAGGGCTATGGGAGCCAAGTGAACACGGGGGATTGAGGCTAATTCACCTGAACTCGAAAACAGCGCCCAGCTTCCTCACCGCAGGCACGTATCTTTTCTTTTTTTTTCCTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCACGGTCTCGGCTCACTGCAAGCTCCACCTCCTGGATTCATACCATTCTCCTGCTTCAGCCTTCCGAGTAGCTGGGACTATAGGTGCCAACCACTACGCCTAGCTAATTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCCCGGCACGTATCTTTTAAGGAATGACACCAGTTCCTGGCTTCTGACCAAAGAAAAAATGTCACAGGAGACTTTGAAGAGGCAGACAGGAGGGTGGTGGCAGCAACACTGCAGCTGCTTCTGGATGCTGCTGGGG | GCCTGTTCCTGGGTAGCCTTCCTTAGCCTCCATTCAGCCTCAGGTCTTTTGCCTTCTTCCGTGTTTATTTAGAGAGCAGAATCTAATAACGGGTTCCACTGTAGCCACTATCCATGGACTTCTGGGTCCTCTTCAGGTTTGAGTGCTTGAAAATGTTCATTCTCTGGGCTTGTGGCCTGTCTCCTCCACTCTCCTCCTCACCCTCTCGCTCCTTCCTGTGTGAGGGCCGCTCTGCAGTAATGTTCTCAGGCAAGCCTTCCTAGGCACCTCAGAAACTACTTTGCCAGAGCCAGTAAGAATATATAATATTGGAGCAGTTGCCAGGATAGAAATTAAATATAGATTCCAGTTTAGGATAGAGTTTTTACCGAGAGCTCTTTAGACAGTATACCTGTGTCTTCTCTGGCAATTGCTTTCATTTTAGTCCTATATAAAAGCTTTCCTTTTCTGTTTTTTTTTAAAACTATGCTTTTGCTTGCCTAAATCTTTTGATCTTATATTTCTCTCATCTCAGAGCCTGTCCTGAGTTGTAAGGTATTTCATACTGCCTTACTTAAAAGTTTTTTAAACTACTAGAGTCATTTGATACACACAGAAGTTACCTAATAATCCAAAGATGTCCATCAAGGGAGGAAGGGTGGGTCATCAGACTTTGCCTTTGATGTTGTAGACTAGGCTCCTGAGTTAAGCAGCAGAGGGACAGCAGTGCCATGTGCCTTCACTGTGTCCCAGGAAATCTGGGTTGGTTCCAGTGGGAAATACCAGTATTTCTTGGTTCTGGAAAGTAGCAAAAGAGTAGGAGATGGGGAAATAGGGATGGGGAGAGCAAGCCCCGCATGTCCATGGCGAGTCAGGTGGGGAGCACGGGTGGAAGGGCCGGCTGTTGACAGACAGACTAAGCTGTGTGGTGCTCTTGCCGCCCCTTCCTGGGTACAGAGCTTGAGAAAAATGCAGCCGACCACTCCCTGTGTTTGTACAGAGCAAAGCCCAAAAGCCAACCTCAGATCTCCTGATTTGGCAGCTGAAGAAATCAGCAGAGTCCTGATTGCCTGATTCAGTCCCAAAAATGAATGTCAGGCCCCGCCCCCTCCCCACCAACATTGCCTCTCCTACATTCTCCTTCTGCCCCTAAATCAGACAGGAGGCCAGAGAGGAGTATTGCTCAATGCGTGCTATGTGCAACTCCTCAGGCCTTGTGCCACCTCCATGCTGAGCCCTGAAGCAGGGTGTCCTGGGTGCCTGTGTGTCAGCTCCCTCCTCTCTACCTACCTCTGACCTTCTTGTGGGTGAGGGTGGCCATGCTTATGGCCATCTTAAAACTGGAGAGGCAGAGAACTACTTATGAGTCTGTAGACCACGTGTTGTCTTCCATGGCCTGTTTCTCCTGCTGTCTGGGTGAGTGAGCCTGCAACGCAATGCCCATGAGAGTAAATGCCTCCTGACCTACCCTGCTCAGCACTGTTCTAGTGTCTTGGCCTTGAAAGAAAAGCCTGACTTCCTGCTGACACATGTGGTAGGGGCATGGCAGCTATGAGGCACCTCCTACGTCTGTTTTCTGGCTGTGGTGACTTGGGATTTTTAACCTTATATATCTTTTTCCTTTACTCAAAACAAAACAATTTTTAGCACACTGAAAAAAAAAAAAAGCCAAATGTTTTGTGCCTTTCTAAGGCAGCACTGTATCCCAGGCTGCATTTTAGGACTTAATATGGAAATACCAGAGTCTGAGCTCCTCTACCTTGAGTTTCATTAGTCCTTAGTGTCTAGGAGACAGGAAAGAATGCTCTCTGTGACTGGAGAGGTGACATGCAGGTGCAGTGTGTCTGGAGTCCCTTTCCCCTGCTGTGAGACTTCAGTGGAGGAGAGAAGCATTGTACCCTGGGATCATTTGGTTGGTTCCAATCACAAGCTTAGTTATCAGGTTGCATGCCTTGTCTCCTGCAAAAGACAGAATGTTTCACAATTCCCAGGTAAACTCTGGACCATTCCAAGTGTCCTAGCCTTCTGATGACATTAATTACCTAGTTGTGTCGAGGAGTATAGGATGGACTCCTGAGAAGGGGAGGTTGGTGGCTTTGTCTTTTCTTTTTGCTGGATCCTGAACTGGTCTAGACCTCCTGCCCCCACCCCCCAGCCCCCATCAGATGTGGCTGGCCTTTCATTTGAAGGCTTCAGACTTAAAGCATTAAGCAGCTAGTGCCCTCTGCAGGGCCTGGTTTCCCCAGGGAAGGGCAGCAAGGAACATGGGACCAGAAGCCTGTCCTCAGTAATGTGACTATAGTGAGCTTTAGCAAAAGTTTTTCTATATAATGACATCTTACTTATCTTTTACCCTTTCCTCAGTTTTCCCCTGCCTTTAACTAATAAAGAATTGGGAGACAGAAATTTTAAAGTCCTCCTTATTCAAGATTTTGAAATTCTTAGCCTGGGAGTGCTGGAGAGAACCTGATGCTTTCTCCAGAATGAAGAGTCCCAATTTGTATATCAGTGTTAAGAAGAAAACAAAACAAACACATAGGTGAGATTTTCGTGGACTATTTTAAAAATGTGTCATTAATATAAAAAATTTATATTAGCAGTATTTAATCATTCTCACCTGTAAAGAATAAGAAAAACAGAAGGTAAATATTCTTACAGAGAATAGCAGAGCTTTAAGATTCATTTTCATTTTAAGTCCATTTTATTTTGCCAGTGTATTAATGTTTAGAAGTCTGTTTTACTAATGTTATTTATTAATTTTTTTTCATTTCCATACACAGTTAGTTAACTAAAGAGCTTTTTCAAGCACCCATGTCTGTAAAAAAATATTTTTAAATAAAGTTTCTTTTGTTGTAGCAGACTTGAGTTCTTGCTCATTCAGGGGGTTGGGAGGCAATACTCGAGTTGCCGTAGGACCAAATGCCAAGGCCCCCTTCCTCATGGCGGTGAGCCTGAGCTGCTGTCTGGAGGGCAGTTCCAAGTGGCAGGAAAGCATAGGAAGGGGACATAGCTCCTGCTAACAGCCTGCCAGGCCCTTCGTGCTGCGTCATCAGGGCAGTTTTGCTGCTGAAAAGTAGGGTGACTGTCTGCTCTGGTAGAACTTGAGCCATTTGCTCAGAAGCAGAGGTAACCCCTGATCTCTGCTGCCAACTGGAAACGGTTTTGTGTGCCTTTTGGTTGTAGTTTCACAGGCCCCCAGGTTCCTGTGGTACCCATGATGAATAAAAAGCAATGTATGATTTCTGGGACAATTAAGCTTTATTTTTCATATATATATATATTTTCATATATATATATACATACATATATAAAGGAAACAATTTGCAAATTTACACACCTGACAAAACCATATATACACACATATGTATGCATACACACAGACAGACACACACACCCGAAGCTCTAGCCAGGCCCGTTTTCCATCCCTAAGTACCATTCTCTCATTTGGGCCCTTCTAGGGTTGGGGCCCTGAGCTTGGTTTGTAGAAGTTTGGTGCTAATATAACCATAGCTTTAATCCCCATGAAGGACAGTGTAGACCTCATCTTTGTCTGCTCCCCGCTGCCTTTCAGTTTTACGTGATCCATCAAGAGGGCTATGGGAGCCAAGTGAACACGGGGGATTGAGGCTAATTCACCTGAACTCGAAAACAGCGCCCAGCTTCCTCACCGCAGGCACGTATCTTTTCTTTTTTTTTCCTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCACGGTCTCGGCTCACTGCAAGCTCCACCTCCTGGATTCATACCATTCTCCTGCTTCAGCCTTCCGAGTAGCTGGGACTATAGGTGCCAACCACTACGCCTAGCTAATTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCCCGGCACGTATCTTTTAAGGAATGACACCAGTTCCTGGCTTCTGACCAAAGAAAAAATGTCACAGGAGACTTTGAAGAGGCAGACAGGAGGGTGGTGGCAGCAACACTGCAGCTGCTTCTGGATGCTGCTGGGGNN | benign | 189,365 |
Variant on chromosome 11, at position 119339479, affecting MFRP: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GGGGGGACAGGGAAGGAGCTAAGATAGGCTGGGAAGACTATGTCATGGGGAGAGTGCATGCCAGGCATGGCTCTGTGAGCTCTCATCCCTTCTGATTTGTCCCCTCTCGCAACACATGGCTTTCGAAAAGCCTTCTATTTTTTCTGTTTTTTCCCAAATTAAGCCCTTGTAGAGAGGAATGTGAACCATCTCACCCCTTGAGTCAACCTTCCCAGCTCCTCCTCCGGGCCAGTCTTCCTGGGAGGGAGCATGGGGTTCCTCCTGCCTGGAGTCCAGTCTGCCCTCGGATCCCAGGAGGAGCTGGTGTGTGTCTCTGTGTGTCTTGGCATGGGGGTCTGGTGCAGGGCTGGGCTGGAGTGCGGCTGCGGGATCTCCTGGTGGAGGCTGCCTAAGGCCTGTCTCTGGCTCACATTTGGGGCTGAGTCCCCATTGGCCGTATCTGCCCTCACATGACCAGCAGAAGAGCAGGGGCACTCCCCCATAATTGTATGTTCTGTCTGGGACCACAGTGCCTGGGACTGCCTTCAGGAAGGGGGTGCCGGTAGCTCAGAAAGAAACTCTGAGGAGAGGCCCCCCCCCTTCCTTGGGTTGAGGCTGTGCAGATGGGGCTGGGCAGTCCTGGTTTGTTAGTCATTGGGTTGGGGGTGGGCTCCAGGGGTGGGCGGAGCCTTGAGGGGCTTTGTGGCTAGCCTCAGACACAGTGGCTCGGCCCACCCAGGCTATGCCCAGCACAGTGGGGGAGGGCTCCTCATCTCCACCTCAGAACTGGGAGGGCTTGGCACTTGCTCTTTCCTTCCCTCAATCCGGGACAGGGAGCTGAGCAAGGGGAGGCCTGGCTCCTTCCAGTCTCTGTTTAATGTGGAGATAAACATTTTATGATAGAAGATAAACTTCCTGAGTTGGGAGTAAAGGACCCCCCCTTTTCTTCCATCCGCATCTGGAATTCCTTTGGCCGACCTCAATACCCCTCCTCTCCCTCACCCCCCCATAGTCAGGAGCTCAAGCTACCCAGGATCCCTGCGGCATTCTGGGGCCAGGGCACCCCCTTGTGGTCATCTCAGAAACTGCTTATCTTTAGACGCCCGAGGACGCCACTCACTCGGGTTACAGAGCAATAGCTTTCTGCTCATCGGGGGCAGGCAAGCAGCCGGAGCAGCCATGGACGAAAGTCCTCGGCTCTTTTTTGTTGGATGAGGGCAGAGGTATGTGTGGCGCAGGCAGCCCCTACGTGGTTCAGTTGGCATCTTTGAATTAGAAAAAGGTGCTCCCTTTCTCAAGGATGGATGGAGCCCCACACCAGGAGGGCATCCCGCTGTCAGACACTCCCATTCACAACCTAGGTGGCGGCTCTGTGGAGCAGCCTCTCATTCCCCTGGGCCGGCTTCTTGTATATCTGCCGCATATCTCTATTTCATCCAAGAACCCTCCCTTCTGCCTGAACACCCCCTCCACACCATGATCCCAGAAACAGGGAGCCCCCACCACTAAAGAAGAAAGGCTGGAGCCGGTAGGAGGGTTCTTAGGTTTATTGAGTGATCTCTGAGAAAAGGGCCGGCCCCAGGAGCAGGAGGGGGTGGGGAGGATCCAGAGAAGCAGAGGACCAGGAAGAGAGCACCCCACCGTGGGCTCCTGGACCAGAGCAACTGGGGGACTTACACTTGCCAGCACAGCACACTCCTCTGGTCTTGGGCAGAAATCCAGCCACTGCCCCATGCTGCCAGACCTGATCGCAGACAGCCACTGTTCCCATTCCTTGCCAGCAGCAGGACGGAGAGTGCTCTACCCCACCTCCCTAGTCATTCACAATATTCCAGGGGGGCCAGCCCTCCTGGATGACCTGGTTGTCAGCCTCACACCCTCCTTCTAGGAGTGAGAGCATGAGCTCACTTTGCAGTGGGCACTAAGCAAAGACTGGGGAGCTGTGCCAGTCGGAGTACACCAGAAATCCGGAGAAGGTGCTGTCTGTCTTGATGCTGGCATAGATGCCAATGTAGTCACCCACACCCACCTGCACCCACACTTGGTCCTCAGGCTCCAGCCTCACCATGGCCCCCCCCGAGAGCGAGGCTGGCTTGGGCCACCCCCCGAAAAACTGGAAGAAAGAGGCAATGGATTCGCCATTCTTCACCAGATCAAACTGCAGGCTGGCCCGGTAGACGGTGGCATGGACGGCGAAGTAGTAGACCCCAGGCACCTGGCAGGTGAACTTGCCGGTGACGGCGTCGTAATGTCCCTGCTCGTTCACCAGCACGCGGTCGAAGGGCAAGGGTGCGTCAGACGGCGGAGGCACCCGGCTCTCGGAGCGCTTGGCGCTGAAGGCGGATCGCGGAGGCACCGAGCACTCCCCGGCAGGCCCGGTGGGCCCCGCGGGTCCCGCCTCTCCTCGCGGCCCGGGGTCCCCTCGAGGTCCCGGCAGTCCTGCGGGGTAAGCGGGGCGGCAGGGTGAGAGTAGCGGCGGCTCAGCCCGCAGCGGGGCGGCGACTCTAAGGTCACCGTACCCCTCCCCGCCCCTGCCTGAGCTTCGGCCAGCGCCTCCTCCCGCACGGGTACCTCCTCCACCCCTTCCCGCAGGGCAGATCTGGGGGGCTGGCCAAGGGGGCTCCCGCCGCCTGGGCCCCTCCCCCGCTCAGGGCTGCAAAGCGCGGGGAGTGGCGCCCCCTGGCGGGAGACCCGAGTCCCGGACACCGGGAGCTGGAGCTGCGGCCGCGCCTGCTCGGACATCGCCACCGATAGCCGCGGCGGTGCCTTCTTACCCGGCCTCCCGCCCTCGCCTTTCTCTCCCGGAGCCCCGGGCGCGCCGTCGCGGCCGTCGCGGCCATCGCGGCCCGGCAAGCCCTGGCTGCCATGGTGGCCCGGCGTGCCTGGAAGGCCGGGGTGCCCCGGGCAGAGGCTGGGGATCTTGTTGTCGTCCAGTGGGGGCGAGCCGGCCGCCAGGCCCAGGAGCAGCAGGACGAGGAGTGGCCTCATAGCGCTGGCACCGGGAGCCCGGACGCCGGGGTCCTCTCGCAGTCTGTGGACCAGGCAGGACTGGAGTCGGGACCCAGAATCCTGGGACCTGCCTCTCTCCCCACCCCGGCGCGGCCCAGTCGGTCCCCACCCCACTGCCGTGCCCCTGAGGCTGAGCGCTCGCAGGGCCGAGCATCCGGAGAGCACAGGCAGGCGCGAGAGGGTGGGAGCGGCCAGCCCTCCCTCCCACCGCCGGCCCGCGCCAGCCTTTCCCACAGTCCCCTCCCCAGCCCCTTTCCCCTCCTCCGCCAGACTCACCCCCCCTCCCGGCTCCCCGATGGCCTCCTTCGGGGCGCTCGCTACTCCGGACCCTCCAGTTGGTGGTGCTCCAGCCCCCGCGCTTCTCCCCGGCCAGGCGCCCCCTGCCCTGCCGTCACCCCAGTCCTGGTTCGCTCCCTGCCGGCTCCGCTTTCCTCCTCCCAGACTCCAAGAGGAAACCAGTTGTTCAGGGGCCAAGAGCTCCCGGACCGGGAAATAGCTGGGAAATAACTCGTGGTGTCGCCCGGCGGCCGGCCAAAGTTTAGGGGGAGAAAGGAGGGGGAGAGAGACTTGAGCTGGGCACAGAGAGGCAGAACTTCGAGAGACGGACACACAGGGCACCTCCTGTTCCCAGGGCCAGAGGAGAGGCAGGGCAGTGGCAGAGACCAAGGACCAGACCCCATTTCAGGGAGAAATACGCAGAGAGATGAGGGTGGAGAGTTCTAGAGGCAGACAGCCAGTTGGATCCCTAGGGCCTAGGACAGGGGCCTGCCACATGAATAGATGCTCAGTACATTTTTGTTGAATCAAGGAAAAGGTCAGAAGGCAGGCGATGGAGAAGCTGAAAAAGCAGATGGAAAGGGGAAGAGGCCTGGATGGGAAGTGGTCTCGATTGTCCGGTGGCACAGTGTGGGGCCAGTCAGCAGCCTGGGACCGGTAAAGGGACAGGAAGGAGCAGGGAGGGTGGTAGGGTCCCATGAGCCCCAGCTGAGGACTTCTCTTCCCCCTCCCTGGGAGCCCCAGAGAAGGATGGGTAGAGACCCTGCTGATGCTCCTTCCTTTGTTCCCCTGCGTGCCAGCCCTGACCGGCAAAAGAGGACGGGCAGGAAGA | GGGGGGACAGGGAAGGAGCTAAGATAGGCTGGGAAGACTATGTCATGGGGAGAGTGCATGCCAGGCATGGCTCTGTGAGCTCTCATCCCTTCTGATTTGTCCCCTCTCGCAACACATGGCTTTCGAAAAGCCTTCTATTTTTTCTGTTTTTTCCCAAATTAAGCCCTTGTAGAGAGGAATGTGAACCATCTCACCCCTTGAGTCAACCTTCCCAGCTCCTCCTCCGGGCCAGTCTTCCTGGGAGGGAGCATGGGGTTCCTCCTGCCTGGAGTCCAGTCTGCCCTCGGATCCCAGGAGGAGCTGGTGTGTGTCTCTGTGTGTCTTGGCATGGGGGTCTGGTGCAGGGCTGGGCTGGAGTGCGGCTGCGGGATCTCCTGGTGGAGGCTGCCTAAGGCCTGTCTCTGGCTCACATTTGGGGCTGAGTCCCCATTGGCCGTATCTGCCCTCACATGACCAGCAGAAGAGCAGGGGCACTCCCCCATAATTGTATGTTCTGTCTGGGACCACAGTGCCTGGGACTGCCTTCAGGAAGGGGGTGCCGGTAGCTCAGAAAGAAACTCTGAGGAGAGGCCCCCCCCCTTCCTTGGGTTGAGGCTGTGCAGATGGGGCTGGGCAGTCCTGGTTTGTTAGTCATTGGGTTGGGGGTGGGCTCCAGGGGTGGGCGGAGCCTTGAGGGGCTTTGTGGCTAGCCTCAGACACAGTGGCTCGGCCCACCCAGGCTATGCCCAGCACAGTGGGGGAGGGCTCCTCATCTCCACCTCAGAACTGGGAGGGCTTGGCACTTGCTCTTTCCTTCCCTCAATCCGGGACAGGGAGCTGAGCAAGGGGAGGCCTGGCTCCTTCCAGTCTCTGTTTAATGTGGAGATAAACATTTTATGATAGAAGATAAACTTCCTGAGTTGGGAGTAAAGGACCCCCCCTTTTCTTCCATCCGCATCTGGAATTCCTTTGGCCGACCTCAATACCCCTCCTCTCCCTCACCCCCCCATAGTCAGGAGCTCAAGCTACCCAGGATCCCTGCGGCATTCTGGGGCCAGGGCACCCCCTTGTGGTCATCTCAGAAACTGCTTATCTTTAGACGCCCGAGGACGCCACTCACTCGGGTTACAGAGCAATAGCTTTCTGCTCATCGGGGGCAGGCAAGCAGCCGGAGCAGCCATGGACGAAAGTCCTCGGCTCTTTTTTGTTGGATGAGGGCAGAGGTATGTGTGGCGCAGGCAGCCCCTACGTGGTTCAGTTGGCATCTTTGAATTAGAAAAAGGTGCTCCCTTTCTCAAGGATGGATGGAGCCCCACACCAGGAGGGCATCCCGCTGTCAGACACTCCCATTCACAACCTAGGTGGCGGCTCTGTGGAGCAGCCTCTCATTCCCCTGGGCCGGCTTCTTGTATATCTGCCGCATATCTCTATTTCATCCAAGAACCCTCCCTTCTGCCTGAACACCCCCTCCACACCATGATCCCAGAAACAGGGAGCCCCCACCACTAAAGAAGAAAGGCTGGAGCCGGTAGGAGGGTTCTTAGGTTTATTGAGTGATCTCTGAGAAAAGGGCCGGCCCCAGGAGCAGGAGGGGGTGGGGAGGATCCAGAGAAGCAGAGGACCAGGAAGAGAGCACCCCACCGTGGGCTCCTGGACCAGAGCAACTGGGGGACTTACACTTGCCAGCACAGCACACTCCTCTGGTCTTGGGCAGAAATCCAGCCACTGCCCCATGCTGCCAGACCTGATCGCAGACAGCCACTGTTCCCATTCCTTGCCAGCAGCAGGACGGAGAGTGCTCTACCCCACCTCCCTAGTCATTCACAATATTCCAGGGGGGCCAGCCCTCCTGGATGACCTGGTTGTCAGCCTCACACCCTCCTTCTAGGAGTGAGAGCATGAGCTCACTTTGCAGTGGGCACTAAGCAAAGACTGGGGAGCTGTGCCAGTCGGAGTACACCAGAAATCCGGAGAAGGTGCTGTCTGTCTTGATGCTGGCATAGATGCCAATGTAGTCACCCACACCCACCTGCACCCACACTTGGTCCTCAGGCTCCAGCCTCACCATGGCCCCCCCCCGAGAGCGAGGCTGGCTTGGGCCACCCCCCGAAAAACTGGAAGAAAGAGGCAATGGATTCGCCATTCTTCACCAGATCAAACTGCAGGCTGGCCCGGTAGACGGTGGCATGGACGGCGAAGTAGTAGACCCCAGGCACCTGGCAGGTGAACTTGCCGGTGACGGCGTCGTAATGTCCCTGCTCGTTCACCAGCACGCGGTCGAAGGGCAAGGGTGCGTCAGACGGCGGAGGCACCCGGCTCTCGGAGCGCTTGGCGCTGAAGGCGGATCGCGGAGGCACCGAGCACTCCCCGGCAGGCCCGGTGGGCCCCGCGGGTCCCGCCTCTCCTCGCGGCCCGGGGTCCCCTCGAGGTCCCGGCAGTCCTGCGGGGTAAGCGGGGCGGCAGGGTGAGAGTAGCGGCGGCTCAGCCCGCAGCGGGGCGGCGACTCTAAGGTCACCGTACCCCTCCCCGCCCCTGCCTGAGCTTCGGCCAGCGCCTCCTCCCGCACGGGTACCTCCTCCACCCCTTCCCGCAGGGCAGATCTGGGGGGCTGGCCAAGGGGGCTCCCGCCGCCTGGGCCCCTCCCCCGCTCAGGGCTGCAAAGCGCGGGGAGTGGCGCCCCCTGGCGGGAGACCCGAGTCCCGGACACCGGGAGCTGGAGCTGCGGCCGCGCCTGCTCGGACATCGCCACCGATAGCCGCGGCGGTGCCTTCTTACCCGGCCTCCCGCCCTCGCCTTTCTCTCCCGGAGCCCCGGGCGCGCCGTCGCGGCCGTCGCGGCCATCGCGGCCCGGCAAGCCCTGGCTGCCATGGTGGCCCGGCGTGCCTGGAAGGCCGGGGTGCCCCGGGCAGAGGCTGGGGATCTTGTTGTCGTCCAGTGGGGGCGAGCCGGCCGCCAGGCCCAGGAGCAGCAGGACGAGGAGTGGCCTCATAGCGCTGGCACCGGGAGCCCGGACGCCGGGGTCCTCTCGCAGTCTGTGGACCAGGCAGGACTGGAGTCGGGACCCAGAATCCTGGGACCTGCCTCTCTCCCCACCCCGGCGCGGCCCAGTCGGTCCCCACCCCACTGCCGTGCCCCTGAGGCTGAGCGCTCGCAGGGCCGAGCATCCGGAGAGCACAGGCAGGCGCGAGAGGGTGGGAGCGGCCAGCCCTCCCTCCCACCGCCGGCCCGCGCCAGCCTTTCCCACAGTCCCCTCCCCAGCCCCTTTCCCCTCCTCCGCCAGACTCACCCCCCCTCCCGGCTCCCCGATGGCCTCCTTCGGGGCGCTCGCTACTCCGGACCCTCCAGTTGGTGGTGCTCCAGCCCCCGCGCTTCTCCCCGGCCAGGCGCCCCCTGCCCTGCCGTCACCCCAGTCCTGGTTCGCTCCCTGCCGGCTCCGCTTTCCTCCTCCCAGACTCCAAGAGGAAACCAGTTGTTCAGGGGCCAAGAGCTCCCGGACCGGGAAATAGCTGGGAAATAACTCGTGGTGTCGCCCGGCGGCCGGCCAAAGTTTAGGGGGAGAAAGGAGGGGGAGAGAGACTTGAGCTGGGCACAGAGAGGCAGAACTTCGAGAGACGGACACACAGGGCACCTCCTGTTCCCAGGGCCAGAGGAGAGGCAGGGCAGTGGCAGAGACCAAGGACCAGACCCCATTTCAGGGAGAAATACGCAGAGAGATGAGGGTGGAGAGTTCTAGAGGCAGACAGCCAGTTGGATCCCTAGGGCCTAGGACAGGGGCCTGCCACATGAATAGATGCTCAGTACATTTTTGTTGAATCAAGGAAAAGGTCAGAAGGCAGGCGATGGAGAAGCTGAAAAAGCAGATGGAAAGGGGAAGAGGCCTGGATGGGAAGTGGTCTCGATTGTCCGGTGGCACAGTGTGGGGCCAGTCAGCAGCCTGGGACCGGTAAAGGGACAGGAAGGAGCAGGGAGGGTGGTAGGGTCCCATGAGCCCCAGCTGAGGACTTCTCTTCCCCCTCCCTGGGAGCCCCAGAGAAGGATGGGTAGAGACCCTGCTGATGCTCCTTCCTTTGTTCCCCTGCGTGCCAGCCCTGACCGGCAAAAGAGGACGGGCAGGAAG | benign | 189,371 |
Is the chromosome 11, position 119343848 variant in MFRP clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Isolated_microphthalmia_5', 'Nanophthalmos_2'] | CCTGCTCCCAGGCTCCTCCCCTCCCAGGCCCGCCCTCCTTCCCTCCACCCAGAAGACCTTGTAACCGCTGAGGACCTCTACCACCTCCTCCTGGGTGATCATGCCCACCCAGATGTTAGGGAAGGCTGTGGTGTTGTAGCTCAGACCGAGGCACATCTCCACCTGGACAGGCTCACAGGCCAGCTCTGCAGGGGTGGAGGGGAGGGCCACTGTGGGGACTGCTCACTGGCTCTGTGGCCTGTGGCAAGTCACCGAATCGCTCGGTCCTGTGTGTACATGGGTCCAATGGGGGTGGTTGTGAGGAAGCAAGAGGATAACAAAGAGACAGGCTGTACACACTCTGAGGATCCCTGCCATCCCTGAGAGCCTGCTCCAGCATCGCTTGCCAGCCCTGGGCATCATGCAGGCACGTCTTTAATCTCAGGGAACATGGGGCACCCGCGTTTGCAGGGACTGCTTGGGCATCTGGAAGAAACCCCCTGCTCTGTGTAAGAGGATGCCTTCATCTTTGGTGTGGGCTGTGGAAAGGGGCTCTGGGTGACAGAAGGGACTGGTTCTTGAAGCCCCACCAATGATTCCCAGATTCCCATTTCCCTTGGGGTGACACTCAGTACTATTGCCACCACCAGCCGACTGTCTTCCAGGACTCTGTGAAGTGGTCCCAGAGTCAGGATGGTGAGGCCAGCTGGCCCCGCCCCCTCAGGGAGGTTGGGATGGGACACTGTGCAGTACGGCAGTAGGGTTCTGTGAGGTGGGCACCCAGCCTGCTCAGGGTCCCCAGGGGCAGGCTTCTCACCTGGGGGTGGGAACAAGGGGCCGCTGCAGTTGTCATCGCTGCCATCGGTGCAGTCTCTCCACATGTCACACATCCACTGCACACCCTTACACCCTCCTGCCTGGCAGGAGAGCTCACTGGGCCCACAGGGGTCTGCAGGCACAAGGGGCATGGCAGTGCCCGGGGACATACCTACACCCCCAGTACCCCCAGAGTGTCCTGACCAGGGTCCAGAGCCCTTGTCTGTCCCCCTGGAGGTGCCTCTACTGCCCCCACCCACTTGCCCAGGGGCACCTACTCTCCGTGGCATTGAAGGCCAGGTAGGTGGCTGAGAAGCCTCCACTGCTGATGCCATGATCTGTCCTAAACAGCACAGCCAGCTCATGGTGCGAGGAGACGAGGTGGGGGGGTGGCTCTGCTCCACAGAACCTGCCCAAAGCAGACAGCTGTTCTGGGCACCAGCCCTGGCTGACTGAGGGGGCACTGCAGCCTCCCACAGGCCTGGCTCTGAGCTGGGAGCCCTGGATGATGCCAAAGGTGATGGAAGACACAGGGTTAGGGTCTGGCGAGAAAGACACATATATTCAACAGGGAAAGCATTAAACAAACTGTCTGAACTCGAGCCACTTCTAGATGGGGAAAAATCAGCGAAGCAGCCTGGCATTGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGAGTAGGGAGGATCACTTGAGCCCAGGAGTTTGAAACCAGCCTGGGCGATATAGTGAGACCTTGTCTTTACAAAAAAATTAAAAAAGTAAATTATCTGGGCGTGGTGGCATGTGCCTGTGATCCCAGCTACTTAGGAGGCTGAGGTGGAAGGAGCACTTGAAGCTGGGAGGTTGAGGCAGCAGTGAGCCATGATGGTGCTACTGCACTCCCGCCTGGGCAACAAAGTGACACTCTGCCTCAAAAAAAGAAGAAAAAGAAAAATCAATGAGGGTTTGTAGGGGAGGTGGAAGTGGCCCCTGCCGGTGGGGAGGAACTGGGGCAGGGAGAGGTTTGGGGAAGGACCTCCTGGGGACAGGGAGAGTGTGGGGTGAAGGTTTTGAGGTGAGAGCTGTCTTTAGGGTGATGGTGAAGAGACCCCCGGCCTGGAGTAGCAGAAGAAAATGAAGCTGGAGAATGGAATGTGCTGGGCCGACATGGAAGCCGGGGGTGGCAGACAGTGAGGATGGAGTTATCCATGGCTCTTCCCTGGCTCCTGTACCTGCCCAGGAGGCTGAAGGCCCCTGAGCTGCTGGTCTCATACACCTCCACGTAGTCAAACTTGCACTCGTCCTGAGCCTCCAGGCTGAAGTTGTGGAACTGTAGTTCTATGCTGTGTCCGGCAGGCACCGAGATATGCCAGGTGCAGAGCTGGGGGAGGGCATAGGTGGAGCAATTCATGGCCCCTTCTCCTGTCTCATCCCGGGCACCCAGAAGGGTCTTCTTCCCCCACTGCTGGCTGGGGGGATGGGGTGGTGCTTTCATCATTGGTGGTTCTTAAGGACCTTTAATTTACCTGGTTTCAGAGGTGAGTTGACCCAGTGTGGGAACATCTGGGTACACAGCAGGCACTTAATAATATTCCCCCATCCCCCGTCTGCTTGATCTCTGACCTTCCCAAGTAGAAGGTAGTGTCTACCATGCCATTCCCATTACACTAACTTGGGGATCAGGTGCTTCCGTGTGTGCCCCTCCCGTTCTGCATGGAGCACTGTGCTTACCAGTTGGTGAGGGTACTGCTGCAGGTAGCTGGGAGTAGAGAAAGTGCCCTGGAGGCCAGTCAGATTCCCCCCACACCCTGTAGAGAGGTGGAAGGGCTCATGAGTTTGCTAGGATCTGTGCCTCCATCCAATAGGGCTGGCGGTGATTACAGAGCGAGAGTTTTGGCCATGCCCATGGGAAACAAGTTCTGGGCCAAAGAATGACTGAGCAGGAAATGCTGACGGAGGGCCCGGTTTGAGGCTGGACCAGAGCTGGGGAGCCCAGCTTGAACCCAGATCAGACGCCTGAAGAGAGGACCCCCATGCCTGGCCCGTACCCGAGAACTTGGCACTGCAATTGGTCTCATCACTGCCGTCAGCACAGTTGGCAAAACCATCACACACTGAGTCAGGTAGCAGGCAGATGAGCTGGTCACAGCGGAACTCATCATGGGCACAGCTCCCTGGATGTGGGCACCAGGAGTCAGGGAGGCCCGGAGTCTCCACCCCTTTGACAGGACTGGGAGTGGGTGGAGGGGAAGAAAGTGGACACTCAACAGGCAGGTGGGAACACACTCACCGCGCCCAGGGGCCATAGCCTGGTACCAGGCATGGAAACCAAATCCTTCCACACTGCTGTCAGAGACGAAGACCACCAGGAGGTGGCTGGCATTGGTGTTGAGCGTGGGGGGAGGCACCCTTCCACAAACCCTGCAAGAAGCCAGGTTGGGGGTGAGGGAGGCTCCAAGAGCAGGGTCAGCCAGAGAGGAGCTTGCCTGGGCCTTGCAGTCCTATTTTCTCAACCCCCAAACTGGTGACCATGTGGTCAAAAAGGCTCCTCTGATGTCCCAGGGAGCTCTGACCTTCCTAGCACCTGCACATTTATCCTTGTAGCATCTACTCATGGGGAGATAGGCAGGAGATCCATGTTACAGACTAGGAAACAGGTGAGAGAGGGGAAGTGATCTTCCTCACGGCACACAGCAAGGTGGTGGCAGAGCTGGGCCCAGAGGTCTAGTCTCTCAATTTCTTCCTCGGTTAGCCCTTCTCCCTGCCACTCCCTGATTCTGCTCTTTAGATAGTGGTTCAGGACACGGTGGGATGTCCTGGGGACAGAGGGACCTACCTGAGGAGGGGGCCTTCAGGCTCAGGGGAGAGTTCCAAGCGATCAAAAAGGCAAGAGGCCACACTCTCTATGCTGAGGGCTTCGATCTTGAGCTGTATTGCATGGTCTGTGGCCACCTGGATATGCCACACGCAGTGGGTGTTGGGGGGGTAAGGGTCTGGGTAGTTAGGGCTGCTGAAGAAGCCCCTTGGGCCAGAGAGGAGGCCTCCACAGGCTGCAGAGATGGAGGTTAGAGTTCAGAGGTCAAAAGGAGTGAGGTCCTTTATTCTCAAGGTGCCTCTTCCTCACCCTCCCCTCAACCCCACCCCGTCATCTTGGGCCCTTCTCCCGGAAGATCTGCCCCCAGTACTCACTGGACTGTGGGGAGGGGCTCACGCCTGACTCCTGCTGCCCTTTAGGGGTCCCAGCTGCCTGAGAGGTGGTGATGGTGGGGGTGGTGGTGGTCGTGGTAAGGCCTCCGGCAGGCAGTGGGCTAT | CCTGCTCCCAGGCTCCTCCCCTCCCAGGCCCGCCCTCCTTCCCTCCACCCAGAAGACCTTGTAACCGCTGAGGACCTCTACCACCTCCTCCTGGGTGATCATGCCCACCCAGATGTTAGGGAAGGCTGTGGTGTTGTAGCTCAGACCGAGGCACATCTCCACCTGGACAGGCTCACAGGCCAGCTCTGCAGGGGTGGAGGGGAGGGCCACTGTGGGGACTGCTCACTGGCTCTGTGGCCTGTGGCAAGTCACCGAATCGCTCGGTCCTGTGTGTACATGGGTCCAATGGGGGTGGTTGTGAGGAAGCAAGAGGATAACAAAGAGACAGGCTGTACACACTCTGAGGATCCCTGCCATCCCTGAGAGCCTGCTCCAGCATCGCTTGCCAGCCCTGGGCATCATGCAGGCACGTCTTTAATCTCAGGGAACATGGGGCACCCGCGTTTGCAGGGACTGCTTGGGCATCTGGAAGAAACCCCCTGCTCTGTGTAAGAGGATGCCTTCATCTTTGGTGTGGGCTGTGGAAAGGGGCTCTGGGTGACAGAAGGGACTGGTTCTTGAAGCCCCACCAATGATTCCCAGATTCCCATTTCCCTTGGGGTGACACTCAGTACTATTGCCACCACCAGCCGACTGTCTTCCAGGACTCTGTGAAGTGGTCCCAGAGTCAGGATGGTGAGGCCAGCTGGCCCCGCCCCCTCAGGGAGGTTGGGATGGGACACTGTGCAGTACGGCAGTAGGGTTCTGTGAGGTGGGCACCCAGCCTGCTCAGGGTCCCCAGGGGCAGGCTTCTCACCTGGGGGTGGGAACAAGGGGCCGCTGCAGTTGTCATCGCTGCCATCGGTGCAGTCTCTCCACATGTCACACATCCACTGCACACCCTTACACCCTCCTGCCTGGCAGGAGAGCTCACTGGGCCCACAGGGGTCTGCAGGCACAAGGGGCATGGCAGTGCCCGGGGACATACCTACACCCCCAGTACCCCCAGAGTGTCCTGACCAGGGTCCAGAGCCCTTGTCTGTCCCCCTGGAGGTGCCTCTACTGCCCCCACCCACTTGCCCAGGGGCACCTACTCTCCGTGGCATTGAAGGCCAGGTAGGTGGCTGAGAAGCCTCCACTGCTGATGCCATGATCTGTCCTAAACAGCACAGCCAGCTCATGGTGCGAGGAGACGAGGTGGGGGGGTGGCTCTGCTCCACAGAACCTGCCCAAAGCAGACAGCTGTTCTGGGCACCAGCCCTGGCTGACTGAGGGGGCACTGCAGCCTCCCACAGGCCTGGCTCTGAGCTGGGAGCCCTGGATGATGCCAAAGGTGATGGAAGACACAGGGTTAGGGTCTGGCGAGAAAGACACATATATTCAACAGGGAAAGCATTAAACAAACTGTCTGAACTCGAGCCACTTCTAGATGGGGAAAAATCAGCGAAGCAGCCTGGCATTGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGAGTAGGGAGGATCACTTGAGCCCAGGAGTTTGAAACCAGCCTGGGCGATATAGTGAGACCTTGTCTTTACAAAAAAATTAAAAAAGTAAATTATCTGGGCGTGGTGGCATGTGCCTGTGATCCCAGCTACTTAGGAGGCTGAGGTGGAAGGAGCACTTGAAGCTGGGAGGTTGAGGCAGCAGTGAGCCATGATGGTGCTACTGCACTCCCGCCTGGGCAACAAAGTGACACTCTGCCTCAAAAAAAGAAGAAAAAGAAAAATCAATGAGGGTTTGTAGGGGAGGTGGAAGTGGCCCCTGCCGGTGGGGAGGAACTGGGGCAGGGAGAGGTTTGGGGAAGGACCTCCTGGGGACAGGGAGAGTGTGGGGTGAAGGTTTTGAGGTGAGAGCTGTCTTTAGGGTGATGGTGAAGAGACCCCCGGCCTGGAGTAGCAGAAGAAAATGAAGCTGGAGAATGGAATGTGCTGGGCCGACATGGAAGCCGGGGGTGGCAGACAGTGAGGATGGAGTTATCCATGGCTCTTCCCTGGCTCCTGTACCTGCCCAGGAGGCTGAAGGCCCCTGAGCTGCTGCTCATACACCTCCACGTAGTCAAACTTGCACTCGTCCTGAGCCTCCAGGCTGAAGTTGTGGAACTGTAGTTCTATGCTGTGTCCGGCAGGCACCGAGATATGCCAGGTGCAGAGCTGGGGGAGGGCATAGGTGGAGCAATTCATGGCCCCTTCTCCTGTCTCATCCCGGGCACCCAGAAGGGTCTTCTTCCCCCACTGCTGGCTGGGGGGATGGGGTGGTGCTTTCATCATTGGTGGTTCTTAAGGACCTTTAATTTACCTGGTTTCAGAGGTGAGTTGACCCAGTGTGGGAACATCTGGGTACACAGCAGGCACTTAATAATATTCCCCCATCCCCCGTCTGCTTGATCTCTGACCTTCCCAAGTAGAAGGTAGTGTCTACCATGCCATTCCCATTACACTAACTTGGGGATCAGGTGCTTCCGTGTGTGCCCCTCCCGTTCTGCATGGAGCACTGTGCTTACCAGTTGGTGAGGGTACTGCTGCAGGTAGCTGGGAGTAGAGAAAGTGCCCTGGAGGCCAGTCAGATTCCCCCCACACCCTGTAGAGAGGTGGAAGGGCTCATGAGTTTGCTAGGATCTGTGCCTCCATCCAATAGGGCTGGCGGTGATTACAGAGCGAGAGTTTTGGCCATGCCCATGGGAAACAAGTTCTGGGCCAAAGAATGACTGAGCAGGAAATGCTGACGGAGGGCCCGGTTTGAGGCTGGACCAGAGCTGGGGAGCCCAGCTTGAACCCAGATCAGACGCCTGAAGAGAGGACCCCCATGCCTGGCCCGTACCCGAGAACTTGGCACTGCAATTGGTCTCATCACTGCCGTCAGCACAGTTGGCAAAACCATCACACACTGAGTCAGGTAGCAGGCAGATGAGCTGGTCACAGCGGAACTCATCATGGGCACAGCTCCCTGGATGTGGGCACCAGGAGTCAGGGAGGCCCGGAGTCTCCACCCCTTTGACAGGACTGGGAGTGGGTGGAGGGGAAGAAAGTGGACACTCAACAGGCAGGTGGGAACACACTCACCGCGCCCAGGGGCCATAGCCTGGTACCAGGCATGGAAACCAAATCCTTCCACACTGCTGTCAGAGACGAAGACCACCAGGAGGTGGCTGGCATTGGTGTTGAGCGTGGGGGGAGGCACCCTTCCACAAACCCTGCAAGAAGCCAGGTTGGGGGTGAGGGAGGCTCCAAGAGCAGGGTCAGCCAGAGAGGAGCTTGCCTGGGCCTTGCAGTCCTATTTTCTCAACCCCCAAACTGGTGACCATGTGGTCAAAAAGGCTCCTCTGATGTCCCAGGGAGCTCTGACCTTCCTAGCACCTGCACATTTATCCTTGTAGCATCTACTCATGGGGAGATAGGCAGGAGATCCATGTTACAGACTAGGAAACAGGTGAGAGAGGGGAAGTGATCTTCCTCACGGCACACAGCAAGGTGGTGGCAGAGCTGGGCCCAGAGGTCTAGTCTCTCAATTTCTTCCTCGGTTAGCCCTTCTCCCTGCCACTCCCTGATTCTGCTCTTTAGATAGTGGTTCAGGACACGGTGGGATGTCCTGGGGACAGAGGGACCTACCTGAGGAGGGGGCCTTCAGGCTCAGGGGAGAGTTCCAAGCGATCAAAAAGGCAAGAGGCCACACTCTCTATGCTGAGGGCTTCGATCTTGAGCTGTATTGCATGGTCTGTGGCCACCTGGATATGCCACACGCAGTGGGTGTTGGGGGGGTAAGGGTCTGGGTAGTTAGGGCTGCTGAAGAAGCCCCTTGGGCCAGAGAGGAGGCCTCCACAGGCTGCAGAGATGGAGGTTAGAGTTCAGAGGTCAAAAGGAGTGAGGTCCTTTATTCTCAAGGTGCCTCTTCCTCACCCTCCCCTCAACCCCACCCCGTCATCTTGGGCCCTTCTCCCGGAAGATCTGCCCCCAGTACTCACTGGACTGTGGGGAGGGGCTCACGCCTGACTCCTGCTGCCCTTTAGGGGTCCCAGCTGCCTGAGAGGTGGTGATGGTGGGGGTGGTGGTGGTCGTGGTAAGGCCTCCGGCAGGCAGTGGGCTATNN | pathogenic | 189,383 |
Determine if the mutation at chromosome 11, position 119344979 in gene MFRP is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Isolated_microphthalmia_5', 'Nanophthalmos_2'] | ATCTGTCCTAAACAGCACAGCCAGCTCATGGTGCGAGGAGACGAGGTGGGGGGGTGGCTCTGCTCCACAGAACCTGCCCAAAGCAGACAGCTGTTCTGGGCACCAGCCCTGGCTGACTGAGGGGGCACTGCAGCCTCCCACAGGCCTGGCTCTGAGCTGGGAGCCCTGGATGATGCCAAAGGTGATGGAAGACACAGGGTTAGGGTCTGGCGAGAAAGACACATATATTCAACAGGGAAAGCATTAAACAAACTGTCTGAACTCGAGCCACTTCTAGATGGGGAAAAATCAGCGAAGCAGCCTGGCATTGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGAGTAGGGAGGATCACTTGAGCCCAGGAGTTTGAAACCAGCCTGGGCGATATAGTGAGACCTTGTCTTTACAAAAAAATTAAAAAAGTAAATTATCTGGGCGTGGTGGCATGTGCCTGTGATCCCAGCTACTTAGGAGGCTGAGGTGGAAGGAGCACTTGAAGCTGGGAGGTTGAGGCAGCAGTGAGCCATGATGGTGCTACTGCACTCCCGCCTGGGCAACAAAGTGACACTCTGCCTCAAAAAAAGAAGAAAAAGAAAAATCAATGAGGGTTTGTAGGGGAGGTGGAAGTGGCCCCTGCCGGTGGGGAGGAACTGGGGCAGGGAGAGGTTTGGGGAAGGACCTCCTGGGGACAGGGAGAGTGTGGGGTGAAGGTTTTGAGGTGAGAGCTGTCTTTAGGGTGATGGTGAAGAGACCCCCGGCCTGGAGTAGCAGAAGAAAATGAAGCTGGAGAATGGAATGTGCTGGGCCGACATGGAAGCCGGGGGTGGCAGACAGTGAGGATGGAGTTATCCATGGCTCTTCCCTGGCTCCTGTACCTGCCCAGGAGGCTGAAGGCCCCTGAGCTGCTGGTCTCATACACCTCCACGTAGTCAAACTTGCACTCGTCCTGAGCCTCCAGGCTGAAGTTGTGGAACTGTAGTTCTATGCTGTGTCCGGCAGGCACCGAGATATGCCAGGTGCAGAGCTGGGGGAGGGCATAGGTGGAGCAATTCATGGCCCCTTCTCCTGTCTCATCCCGGGCACCCAGAAGGGTCTTCTTCCCCCACTGCTGGCTGGGGGGATGGGGTGGTGCTTTCATCATTGGTGGTTCTTAAGGACCTTTAATTTACCTGGTTTCAGAGGTGAGTTGACCCAGTGTGGGAACATCTGGGTACACAGCAGGCACTTAATAATATTCCCCCATCCCCCGTCTGCTTGATCTCTGACCTTCCCAAGTAGAAGGTAGTGTCTACCATGCCATTCCCATTACACTAACTTGGGGATCAGGTGCTTCCGTGTGTGCCCCTCCCGTTCTGCATGGAGCACTGTGCTTACCAGTTGGTGAGGGTACTGCTGCAGGTAGCTGGGAGTAGAGAAAGTGCCCTGGAGGCCAGTCAGATTCCCCCCACACCCTGTAGAGAGGTGGAAGGGCTCATGAGTTTGCTAGGATCTGTGCCTCCATCCAATAGGGCTGGCGGTGATTACAGAGCGAGAGTTTTGGCCATGCCCATGGGAAACAAGTTCTGGGCCAAAGAATGACTGAGCAGGAAATGCTGACGGAGGGCCCGGTTTGAGGCTGGACCAGAGCTGGGGAGCCCAGCTTGAACCCAGATCAGACGCCTGAAGAGAGGACCCCCATGCCTGGCCCGTACCCGAGAACTTGGCACTGCAATTGGTCTCATCACTGCCGTCAGCACAGTTGGCAAAACCATCACACACTGAGTCAGGTAGCAGGCAGATGAGCTGGTCACAGCGGAACTCATCATGGGCACAGCTCCCTGGATGTGGGCACCAGGAGTCAGGGAGGCCCGGAGTCTCCACCCCTTTGACAGGACTGGGAGTGGGTGGAGGGGAAGAAAGTGGACACTCAACAGGCAGGTGGGAACACACTCACCGCGCCCAGGGGCCATAGCCTGGTACCAGGCATGGAAACCAAATCCTTCCACACTGCTGTCAGAGACGAAGACCACCAGGAGGTGGCTGGCATTGGTGTTGAGCGTGGGGGGAGGCACCCTTCCACAAACCCTGCAAGAAGCCAGGTTGGGGGTGAGGGAGGCTCCAAGAGCAGGGTCAGCCAGAGAGGAGCTTGCCTGGGCCTTGCAGTCCTATTTTCTCAACCCCCAAACTGGTGACCATGTGGTCAAAAAGGCTCCTCTGATGTCCCAGGGAGCTCTGACCTTCCTAGCACCTGCACATTTATCCTTGTAGCATCTACTCATGGGGAGATAGGCAGGAGATCCATGTTACAGACTAGGAAACAGGTGAGAGAGGGGAAGTGATCTTCCTCACGGCACACAGCAAGGTGGTGGCAGAGCTGGGCCCAGAGGTCTAGTCTCTCAATTTCTTCCTCGGTTAGCCCTTCTCCCTGCCACTCCCTGATTCTGCTCTTTAGATAGTGGTTCAGGACACGGTGGGATGTCCTGGGGACAGAGGGACCTACCTGAGGAGGGGGCCTTCAGGCTCAGGGGAGAGTTCCAAGCGATCAAAAAGGCAAGAGGCCACACTCTCTATGCTGAGGGCTTCGATCTTGAGCTGTATTGCATGGTCTGTGGCCACCTGGATATGCCACACGCAGTGGGTGTTGGGGGGGTAAGGGTCTGGGTAGTTAGGGCTGCTGAAGAAGCCCCTTGGGCCAGAGAGGAGGCCTCCACAGGCTGCAGAGATGGAGGTTAGAGTTCAGAGGTCAAAAGGAGTGAGGTCCTTTATTCTCAAGGTGCCTCTTCCTCACCCTCCCCTCAACCCCACCCCGTCATCTTGGGCCCTTCTCCCGGAAGATCTGCCCCCAGTACTCACTGGACTGTGGGGAGGGGCTCACGCCTGACTCCTGCTGCCCTTTAGGGGTCCCAGCTGCCTGAGAGGTGGTGATGGTGGGGGTGGTGGTGGTCGTGGTAAGGCCTCCGGCAGGCAGTGGGCTATGGGACGCCCCAGATGGGGGTGCAGCCTGCAGCTCTGGAGGCGAGAAGATGGAGGGTGGCGTTCAGAGGAGCTGGGTCCTGGGAGGCTGGGAGAGCGGCTCATGGAGTTTCATTCCAAAGCCCTCGTTTCAAGCTGTCCCCGGGTACTTACGGGCCAGGATGATGGCCACCAGCAGCCCAAGCAGCAGGAGGAGCAGGCTGGAGAGCAGGAGGACACAGAGCCAGGAGAAGCGGCAGTCTGGCCGTAGCCCTCGAGGACGCCGACCTGCGGGTTGGCAGGTGGGGTTTTGAAAGCCCCTTCTGTTGGGTATTCCTCATGCTGTCCTTGGCTCCTGGGCCTCTCTGTCCTCCCCCAGGTCACCCCCTGGGATGGTTACCATGCCAGGGAGCTGGGACGCTGTAGCTGGCATCCTCTGGGAAAACTGGGGGAGGGCAGGGTGGCCCAGACTCAGGCTCGAAGGCAGGATTGCAGAACTCGGTCTGGAAGGGGGAGATACTTGAGGGCTGAGGGCAGCAGTGACCACTGGTGCTGGGTCTTAGGAGCACGATTCTATGTGGTCCTTACCTTGCTCGATTCTGTTGCCTCCATGCAGAGGATGACATCTGAGAAGTCCTTCATGGCACAAGGCTCTGCATGGCTTTCTGGAGTCCCTGTGACAGCCCAAGACCCCCAAGGGCCCACTCGCTGACCACAAACTCCCTGTCAGAGGGGCAGCCTCTACTACCCGAGGGAAAAGGCTGCCAGGCTAGACCAGTTCTTGGGCTGTCCTTGGTAGAGTGGTTTGGCCTATGGGCTACTCTGTCTCTGTGTGGGGGAAGGGATGGCAGCCAGGAGGAATTCACAAAGGCACGAAATGGTCCCTTAATCCAACTCAGCTGAGGATGCTGAGGTCAAGCCCCTGGCACAGGGTGGCAGTTCTTAAAGGCACAGGCGGTGGCTGAGAACACCCAGCAGAGGAAACTAGGTGCTCTGTGCGGGGATGTGACGAGGGGAGCTCTCCACCCCATCACCCAAGGCACTGAGTGAGCACTTAGGGGGTCGCTGGGAGGGGAGAGAAGTTGCAGGCAGAAGGGAGCCTTAGGTGGTCTGAGAAAGAAGCAGGGTGTAGGGGGTGGACAAAGCCAGCTGCCC | ATCTGTCCTAAACAGCACAGCCAGCTCATGGTGCGAGGAGACGAGGTGGGGGGGTGGCTCTGCTCCACAGAACCTGCCCAAAGCAGACAGCTGTTCTGGGCACCAGCCCTGGCTGACTGAGGGGGCACTGCAGCCTCCCACAGGCCTGGCTCTGAGCTGGGAGCCCTGGATGATGCCAAAGGTGATGGAAGACACAGGGTTAGGGTCTGGCGAGAAAGACACATATATTCAACAGGGAAAGCATTAAACAAACTGTCTGAACTCGAGCCACTTCTAGATGGGGAAAAATCAGCGAAGCAGCCTGGCATTGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGAGTAGGGAGGATCACTTGAGCCCAGGAGTTTGAAACCAGCCTGGGCGATATAGTGAGACCTTGTCTTTACAAAAAAATTAAAAAAGTAAATTATCTGGGCGTGGTGGCATGTGCCTGTGATCCCAGCTACTTAGGAGGCTGAGGTGGAAGGAGCACTTGAAGCTGGGAGGTTGAGGCAGCAGTGAGCCATGATGGTGCTACTGCACTCCCGCCTGGGCAACAAAGTGACACTCTGCCTCAAAAAAAGAAGAAAAAGAAAAATCAATGAGGGTTTGTAGGGGAGGTGGAAGTGGCCCCTGCCGGTGGGGAGGAACTGGGGCAGGGAGAGGTTTGGGGAAGGACCTCCTGGGGACAGGGAGAGTGTGGGGTGAAGGTTTTGAGGTGAGAGCTGTCTTTAGGGTGATGGTGAAGAGACCCCCGGCCTGGAGTAGCAGAAGAAAATGAAGCTGGAGAATGGAATGTGCTGGGCCGACATGGAAGCCGGGGGTGGCAGACAGTGAGGATGGAGTTATCCATGGCTCTTCCCTGGCTCCTGTACCTGCCCAGGAGGCTGAAGGCCCCTGAGCTGCTGGTCTCATACACCTCCACGTAGTCAAACTTGCACTCGTCCTGAGCCTCCAGGCTGAAGTTGTGGAACTGTAGTTCTATGCTGTGTCCGGCAGGCACCGAGATATGCCAGGTGCAGAGCTGGGGGAGGGCATAGGTGGAGCAATTCATGGCCCCTTCTCCTGTCTCATCCCGGGCACCCAGAAGGGTCTTCTTCCCCCACTGCTGGCTGGGGGGATGGGGTGGTGCTTTCATCATTGGTGGTTCTTAAGGACCTTTAATTTACCTGGTTTCAGAGGTGAGTTGACCCAGTGTGGGAACATCTGGGTACACAGCAGGCACTTAATAATATTCCCCCATCCCCCGTCTGCTTGATCTCTGACCTTCCCAAGTAGAAGGTAGTGTCTACCATGCCATTCCCATTACACTAACTTGGGGATCAGGTGCTTCCGTGTGTGCCCCTCCCGTTCTGCATGGAGCACTGTGCTTACCAGTTGGTGAGGGTACTGCTGCAGGTAGCTGGGAGTAGAGAAAGTGCCCTGGAGGCCAGTCAGATTCCCCCCACACCCTGTAGAGAGGTGGAAGGGCTCATGAGTTTGCTAGGATCTGTGCCTCCATCCAATAGGGCTGGCGGTGATTACAGAGCGAGAGTTTTGGCCATGCCCATGGGAAACAAGTTCTGGGCCAAAGAATGACTGAGCAGGAAATGCTGACGGAGGGCCCGGTTTGAGGCTGGACCAGAGCTGGGGAGCCCAGCTTGAACCCAGATCAGACGCCTGAAGAGAGGACCCCCATGCCTGGCCCGTACCCGAGAACTTGGCACTGCAATTGGTCTCATCACTGCCGTCAGCACAGTTGGCAAAACCATCACACACTGAGTCAGGTAGCAGGCAGATGAGCTGGTCACAGCGGAACTCATCATGGGCACAGCTCCCTGGATGTGGGCACCAGGAGTCAGGGAGGCCCGGAGTCTCCACCCCTTTGACAGGACTGGGAGTGGGTGGAGGGGAAGAAAGTGGACACTCAACAGGCAGGTGGGAACACACTCACCGCGCCCAGGGGCCATAGCCTGGTACCAGGCATGGAAACCAAATCCTTCCACACTGCTGTCAGAGACGAAGACCACCAGGAGGTGGCTGGCATTGGTGTTGAGCGTGGGGGAGGCACCCTTCCACAAACCCTGCAAGAAGCCAGGTTGGGGGTGAGGGAGGCTCCAAGAGCAGGGTCAGCCAGAGAGGAGCTTGCCTGGGCCTTGCAGTCCTATTTTCTCAACCCCCAAACTGGTGACCATGTGGTCAAAAAGGCTCCTCTGATGTCCCAGGGAGCTCTGACCTTCCTAGCACCTGCACATTTATCCTTGTAGCATCTACTCATGGGGAGATAGGCAGGAGATCCATGTTACAGACTAGGAAACAGGTGAGAGAGGGGAAGTGATCTTCCTCACGGCACACAGCAAGGTGGTGGCAGAGCTGGGCCCAGAGGTCTAGTCTCTCAATTTCTTCCTCGGTTAGCCCTTCTCCCTGCCACTCCCTGATTCTGCTCTTTAGATAGTGGTTCAGGACACGGTGGGATGTCCTGGGGACAGAGGGACCTACCTGAGGAGGGGGCCTTCAGGCTCAGGGGAGAGTTCCAAGCGATCAAAAAGGCAAGAGGCCACACTCTCTATGCTGAGGGCTTCGATCTTGAGCTGTATTGCATGGTCTGTGGCCACCTGGATATGCCACACGCAGTGGGTGTTGGGGGGGTAAGGGTCTGGGTAGTTAGGGCTGCTGAAGAAGCCCCTTGGGCCAGAGAGGAGGCCTCCACAGGCTGCAGAGATGGAGGTTAGAGTTCAGAGGTCAAAAGGAGTGAGGTCCTTTATTCTCAAGGTGCCTCTTCCTCACCCTCCCCTCAACCCCACCCCGTCATCTTGGGCCCTTCTCCCGGAAGATCTGCCCCCAGTACTCACTGGACTGTGGGGAGGGGCTCACGCCTGACTCCTGCTGCCCTTTAGGGGTCCCAGCTGCCTGAGAGGTGGTGATGGTGGGGGTGGTGGTGGTCGTGGTAAGGCCTCCGGCAGGCAGTGGGCTATGGGACGCCCCAGATGGGGGTGCAGCCTGCAGCTCTGGAGGCGAGAAGATGGAGGGTGGCGTTCAGAGGAGCTGGGTCCTGGGAGGCTGGGAGAGCGGCTCATGGAGTTTCATTCCAAAGCCCTCGTTTCAAGCTGTCCCCGGGTACTTACGGGCCAGGATGATGGCCACCAGCAGCCCAAGCAGCAGGAGGAGCAGGCTGGAGAGCAGGAGGACACAGAGCCAGGAGAAGCGGCAGTCTGGCCGTAGCCCTCGAGGACGCCGACCTGCGGGTTGGCAGGTGGGGTTTTGAAAGCCCCTTCTGTTGGGTATTCCTCATGCTGTCCTTGGCTCCTGGGCCTCTCTGTCCTCCCCCAGGTCACCCCCTGGGATGGTTACCATGCCAGGGAGCTGGGACGCTGTAGCTGGCATCCTCTGGGAAAACTGGGGGAGGGCAGGGTGGCCCAGACTCAGGCTCGAAGGCAGGATTGCAGAACTCGGTCTGGAAGGGGGAGATACTTGAGGGCTGAGGGCAGCAGTGACCACTGGTGCTGGGTCTTAGGAGCACGATTCTATGTGGTCCTTACCTTGCTCGATTCTGTTGCCTCCATGCAGAGGATGACATCTGAGAAGTCCTTCATGGCACAAGGCTCTGCATGGCTTTCTGGAGTCCCTGTGACAGCCCAAGACCCCCAAGGGCCCACTCGCTGACCACAAACTCCCTGTCAGAGGGGCAGCCTCTACTACCCGAGGGAAAAGGCTGCCAGGCTAGACCAGTTCTTGGGCTGTCCTTGGTAGAGTGGTTTGGCCTATGGGCTACTCTGTCTCTGTGTGGGGGAAGGGATGGCAGCCAGGAGGAATTCACAAAGGCACGAAATGGTCCCTTAATCCAACTCAGCTGAGGATGCTGAGGTCAAGCCCCTGGCACAGGGTGGCAGTTCTTAAAGGCACAGGCGGTGGCTGAGAACACCCAGCAGAGGAAACTAGGTGCTCTGTGCGGGGATGTGACGAGGGGAGCTCTCCACCCCATCACCCAAGGCACTGAGTGAGCACTTAGGGGGTCGCTGGGAGGGGAGAGAAGTTGCAGGCAGAAGGGAGCCTTAGGTGGTCTGAGAAAGAAGCAGGGTGTAGGGGGTGGACAAAGCCAGCTGCCCN | pathogenic | 189,397 |
Is the chromosome 11, position 119344983 variant in MFRP clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Isolated_microphthalmia_5'] | GTCCTAAACAGCACAGCCAGCTCATGGTGCGAGGAGACGAGGTGGGGGGGTGGCTCTGCTCCACAGAACCTGCCCAAAGCAGACAGCTGTTCTGGGCACCAGCCCTGGCTGACTGAGGGGGCACTGCAGCCTCCCACAGGCCTGGCTCTGAGCTGGGAGCCCTGGATGATGCCAAAGGTGATGGAAGACACAGGGTTAGGGTCTGGCGAGAAAGACACATATATTCAACAGGGAAAGCATTAAACAAACTGTCTGAACTCGAGCCACTTCTAGATGGGGAAAAATCAGCGAAGCAGCCTGGCATTGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGAGTAGGGAGGATCACTTGAGCCCAGGAGTTTGAAACCAGCCTGGGCGATATAGTGAGACCTTGTCTTTACAAAAAAATTAAAAAAGTAAATTATCTGGGCGTGGTGGCATGTGCCTGTGATCCCAGCTACTTAGGAGGCTGAGGTGGAAGGAGCACTTGAAGCTGGGAGGTTGAGGCAGCAGTGAGCCATGATGGTGCTACTGCACTCCCGCCTGGGCAACAAAGTGACACTCTGCCTCAAAAAAAGAAGAAAAAGAAAAATCAATGAGGGTTTGTAGGGGAGGTGGAAGTGGCCCCTGCCGGTGGGGAGGAACTGGGGCAGGGAGAGGTTTGGGGAAGGACCTCCTGGGGACAGGGAGAGTGTGGGGTGAAGGTTTTGAGGTGAGAGCTGTCTTTAGGGTGATGGTGAAGAGACCCCCGGCCTGGAGTAGCAGAAGAAAATGAAGCTGGAGAATGGAATGTGCTGGGCCGACATGGAAGCCGGGGGTGGCAGACAGTGAGGATGGAGTTATCCATGGCTCTTCCCTGGCTCCTGTACCTGCCCAGGAGGCTGAAGGCCCCTGAGCTGCTGGTCTCATACACCTCCACGTAGTCAAACTTGCACTCGTCCTGAGCCTCCAGGCTGAAGTTGTGGAACTGTAGTTCTATGCTGTGTCCGGCAGGCACCGAGATATGCCAGGTGCAGAGCTGGGGGAGGGCATAGGTGGAGCAATTCATGGCCCCTTCTCCTGTCTCATCCCGGGCACCCAGAAGGGTCTTCTTCCCCCACTGCTGGCTGGGGGGATGGGGTGGTGCTTTCATCATTGGTGGTTCTTAAGGACCTTTAATTTACCTGGTTTCAGAGGTGAGTTGACCCAGTGTGGGAACATCTGGGTACACAGCAGGCACTTAATAATATTCCCCCATCCCCCGTCTGCTTGATCTCTGACCTTCCCAAGTAGAAGGTAGTGTCTACCATGCCATTCCCATTACACTAACTTGGGGATCAGGTGCTTCCGTGTGTGCCCCTCCCGTTCTGCATGGAGCACTGTGCTTACCAGTTGGTGAGGGTACTGCTGCAGGTAGCTGGGAGTAGAGAAAGTGCCCTGGAGGCCAGTCAGATTCCCCCCACACCCTGTAGAGAGGTGGAAGGGCTCATGAGTTTGCTAGGATCTGTGCCTCCATCCAATAGGGCTGGCGGTGATTACAGAGCGAGAGTTTTGGCCATGCCCATGGGAAACAAGTTCTGGGCCAAAGAATGACTGAGCAGGAAATGCTGACGGAGGGCCCGGTTTGAGGCTGGACCAGAGCTGGGGAGCCCAGCTTGAACCCAGATCAGACGCCTGAAGAGAGGACCCCCATGCCTGGCCCGTACCCGAGAACTTGGCACTGCAATTGGTCTCATCACTGCCGTCAGCACAGTTGGCAAAACCATCACACACTGAGTCAGGTAGCAGGCAGATGAGCTGGTCACAGCGGAACTCATCATGGGCACAGCTCCCTGGATGTGGGCACCAGGAGTCAGGGAGGCCCGGAGTCTCCACCCCTTTGACAGGACTGGGAGTGGGTGGAGGGGAAGAAAGTGGACACTCAACAGGCAGGTGGGAACACACTCACCGCGCCCAGGGGCCATAGCCTGGTACCAGGCATGGAAACCAAATCCTTCCACACTGCTGTCAGAGACGAAGACCACCAGGAGGTGGCTGGCATTGGTGTTGAGCGTGGGGGGAGGCACCCTTCCACAAACCCTGCAAGAAGCCAGGTTGGGGGTGAGGGAGGCTCCAAGAGCAGGGTCAGCCAGAGAGGAGCTTGCCTGGGCCTTGCAGTCCTATTTTCTCAACCCCCAAACTGGTGACCATGTGGTCAAAAAGGCTCCTCTGATGTCCCAGGGAGCTCTGACCTTCCTAGCACCTGCACATTTATCCTTGTAGCATCTACTCATGGGGAGATAGGCAGGAGATCCATGTTACAGACTAGGAAACAGGTGAGAGAGGGGAAGTGATCTTCCTCACGGCACACAGCAAGGTGGTGGCAGAGCTGGGCCCAGAGGTCTAGTCTCTCAATTTCTTCCTCGGTTAGCCCTTCTCCCTGCCACTCCCTGATTCTGCTCTTTAGATAGTGGTTCAGGACACGGTGGGATGTCCTGGGGACAGAGGGACCTACCTGAGGAGGGGGCCTTCAGGCTCAGGGGAGAGTTCCAAGCGATCAAAAAGGCAAGAGGCCACACTCTCTATGCTGAGGGCTTCGATCTTGAGCTGTATTGCATGGTCTGTGGCCACCTGGATATGCCACACGCAGTGGGTGTTGGGGGGGTAAGGGTCTGGGTAGTTAGGGCTGCTGAAGAAGCCCCTTGGGCCAGAGAGGAGGCCTCCACAGGCTGCAGAGATGGAGGTTAGAGTTCAGAGGTCAAAAGGAGTGAGGTCCTTTATTCTCAAGGTGCCTCTTCCTCACCCTCCCCTCAACCCCACCCCGTCATCTTGGGCCCTTCTCCCGGAAGATCTGCCCCCAGTACTCACTGGACTGTGGGGAGGGGCTCACGCCTGACTCCTGCTGCCCTTTAGGGGTCCCAGCTGCCTGAGAGGTGGTGATGGTGGGGGTGGTGGTGGTCGTGGTAAGGCCTCCGGCAGGCAGTGGGCTATGGGACGCCCCAGATGGGGGTGCAGCCTGCAGCTCTGGAGGCGAGAAGATGGAGGGTGGCGTTCAGAGGAGCTGGGTCCTGGGAGGCTGGGAGAGCGGCTCATGGAGTTTCATTCCAAAGCCCTCGTTTCAAGCTGTCCCCGGGTACTTACGGGCCAGGATGATGGCCACCAGCAGCCCAAGCAGCAGGAGGAGCAGGCTGGAGAGCAGGAGGACACAGAGCCAGGAGAAGCGGCAGTCTGGCCGTAGCCCTCGAGGACGCCGACCTGCGGGTTGGCAGGTGGGGTTTTGAAAGCCCCTTCTGTTGGGTATTCCTCATGCTGTCCTTGGCTCCTGGGCCTCTCTGTCCTCCCCCAGGTCACCCCCTGGGATGGTTACCATGCCAGGGAGCTGGGACGCTGTAGCTGGCATCCTCTGGGAAAACTGGGGGAGGGCAGGGTGGCCCAGACTCAGGCTCGAAGGCAGGATTGCAGAACTCGGTCTGGAAGGGGGAGATACTTGAGGGCTGAGGGCAGCAGTGACCACTGGTGCTGGGTCTTAGGAGCACGATTCTATGTGGTCCTTACCTTGCTCGATTCTGTTGCCTCCATGCAGAGGATGACATCTGAGAAGTCCTTCATGGCACAAGGCTCTGCATGGCTTTCTGGAGTCCCTGTGACAGCCCAAGACCCCCAAGGGCCCACTCGCTGACCACAAACTCCCTGTCAGAGGGGCAGCCTCTACTACCCGAGGGAAAAGGCTGCCAGGCTAGACCAGTTCTTGGGCTGTCCTTGGTAGAGTGGTTTGGCCTATGGGCTACTCTGTCTCTGTGTGGGGGAAGGGATGGCAGCCAGGAGGAATTCACAAAGGCACGAAATGGTCCCTTAATCCAACTCAGCTGAGGATGCTGAGGTCAAGCCCCTGGCACAGGGTGGCAGTTCTTAAAGGCACAGGCGGTGGCTGAGAACACCCAGCAGAGGAAACTAGGTGCTCTGTGCGGGGATGTGACGAGGGGAGCTCTCCACCCCATCACCCAAGGCACTGAGTGAGCACTTAGGGGGTCGCTGGGAGGGGAGAGAAGTTGCAGGCAGAAGGGAGCCTTAGGTGGTCTGAGAAAGAAGCAGGGTGTAGGGGGTGGACAAAGCCAGCTGCCCACCT | GTCCTAAACAGCACAGCCAGCTCATGGTGCGAGGAGACGAGGTGGGGGGGTGGCTCTGCTCCACAGAACCTGCCCAAAGCAGACAGCTGTTCTGGGCACCAGCCCTGGCTGACTGAGGGGGCACTGCAGCCTCCCACAGGCCTGGCTCTGAGCTGGGAGCCCTGGATGATGCCAAAGGTGATGGAAGACACAGGGTTAGGGTCTGGCGAGAAAGACACATATATTCAACAGGGAAAGCATTAAACAAACTGTCTGAACTCGAGCCACTTCTAGATGGGGAAAAATCAGCGAAGCAGCCTGGCATTGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGAGTAGGGAGGATCACTTGAGCCCAGGAGTTTGAAACCAGCCTGGGCGATATAGTGAGACCTTGTCTTTACAAAAAAATTAAAAAAGTAAATTATCTGGGCGTGGTGGCATGTGCCTGTGATCCCAGCTACTTAGGAGGCTGAGGTGGAAGGAGCACTTGAAGCTGGGAGGTTGAGGCAGCAGTGAGCCATGATGGTGCTACTGCACTCCCGCCTGGGCAACAAAGTGACACTCTGCCTCAAAAAAAGAAGAAAAAGAAAAATCAATGAGGGTTTGTAGGGGAGGTGGAAGTGGCCCCTGCCGGTGGGGAGGAACTGGGGCAGGGAGAGGTTTGGGGAAGGACCTCCTGGGGACAGGGAGAGTGTGGGGTGAAGGTTTTGAGGTGAGAGCTGTCTTTAGGGTGATGGTGAAGAGACCCCCGGCCTGGAGTAGCAGAAGAAAATGAAGCTGGAGAATGGAATGTGCTGGGCCGACATGGAAGCCGGGGGTGGCAGACAGTGAGGATGGAGTTATCCATGGCTCTTCCCTGGCTCCTGTACCTGCCCAGGAGGCTGAAGGCCCCTGAGCTGCTGGTCTCATACACCTCCACGTAGTCAAACTTGCACTCGTCCTGAGCCTCCAGGCTGAAGTTGTGGAACTGTAGTTCTATGCTGTGTCCGGCAGGCACCGAGATATGCCAGGTGCAGAGCTGGGGGAGGGCATAGGTGGAGCAATTCATGGCCCCTTCTCCTGTCTCATCCCGGGCACCCAGAAGGGTCTTCTTCCCCCACTGCTGGCTGGGGGGATGGGGTGGTGCTTTCATCATTGGTGGTTCTTAAGGACCTTTAATTTACCTGGTTTCAGAGGTGAGTTGACCCAGTGTGGGAACATCTGGGTACACAGCAGGCACTTAATAATATTCCCCCATCCCCCGTCTGCTTGATCTCTGACCTTCCCAAGTAGAAGGTAGTGTCTACCATGCCATTCCCATTACACTAACTTGGGGATCAGGTGCTTCCGTGTGTGCCCCTCCCGTTCTGCATGGAGCACTGTGCTTACCAGTTGGTGAGGGTACTGCTGCAGGTAGCTGGGAGTAGAGAAAGTGCCCTGGAGGCCAGTCAGATTCCCCCCACACCCTGTAGAGAGGTGGAAGGGCTCATGAGTTTGCTAGGATCTGTGCCTCCATCCAATAGGGCTGGCGGTGATTACAGAGCGAGAGTTTTGGCCATGCCCATGGGAAACAAGTTCTGGGCCAAAGAATGACTGAGCAGGAAATGCTGACGGAGGGCCCGGTTTGAGGCTGGACCAGAGCTGGGGAGCCCAGCTTGAACCCAGATCAGACGCCTGAAGAGAGGACCCCCATGCCTGGCCCGTACCCGAGAACTTGGCACTGCAATTGGTCTCATCACTGCCGTCAGCACAGTTGGCAAAACCATCACACACTGAGTCAGGTAGCAGGCAGATGAGCTGGTCACAGCGGAACTCATCATGGGCACAGCTCCCTGGATGTGGGCACCAGGAGTCAGGGAGGCCCGGAGTCTCCACCCCTTTGACAGGACTGGGAGTGGGTGGAGGGGAAGAAAGTGGACACTCAACAGGCAGGTGGGAACACACTCACCGCGCCCAGGGGCCATAGCCTGGTACCAGGCATGGAAACCAAATCCTTCCACACTGCTGTCAGAGACGAAGACCACCAGGAGGTGGCTGGCATTGGTGTTGAGCGTGGGGAGGAGGCACCCTTCCACAAACCCTGCAAGAAGCCAGGTTGGGGGTGAGGGAGGCTCCAAGAGCAGGGTCAGCCAGAGAGGAGCTTGCCTGGGCCTTGCAGTCCTATTTTCTCAACCCCCAAACTGGTGACCATGTGGTCAAAAAGGCTCCTCTGATGTCCCAGGGAGCTCTGACCTTCCTAGCACCTGCACATTTATCCTTGTAGCATCTACTCATGGGGAGATAGGCAGGAGATCCATGTTACAGACTAGGAAACAGGTGAGAGAGGGGAAGTGATCTTCCTCACGGCACACAGCAAGGTGGTGGCAGAGCTGGGCCCAGAGGTCTAGTCTCTCAATTTCTTCCTCGGTTAGCCCTTCTCCCTGCCACTCCCTGATTCTGCTCTTTAGATAGTGGTTCAGGACACGGTGGGATGTCCTGGGGACAGAGGGACCTACCTGAGGAGGGGGCCTTCAGGCTCAGGGGAGAGTTCCAAGCGATCAAAAAGGCAAGAGGCCACACTCTCTATGCTGAGGGCTTCGATCTTGAGCTGTATTGCATGGTCTGTGGCCACCTGGATATGCCACACGCAGTGGGTGTTGGGGGGGTAAGGGTCTGGGTAGTTAGGGCTGCTGAAGAAGCCCCTTGGGCCAGAGAGGAGGCCTCCACAGGCTGCAGAGATGGAGGTTAGAGTTCAGAGGTCAAAAGGAGTGAGGTCCTTTATTCTCAAGGTGCCTCTTCCTCACCCTCCCCTCAACCCCACCCCGTCATCTTGGGCCCTTCTCCCGGAAGATCTGCCCCCAGTACTCACTGGACTGTGGGGAGGGGCTCACGCCTGACTCCTGCTGCCCTTTAGGGGTCCCAGCTGCCTGAGAGGTGGTGATGGTGGGGGTGGTGGTGGTCGTGGTAAGGCCTCCGGCAGGCAGTGGGCTATGGGACGCCCCAGATGGGGGTGCAGCCTGCAGCTCTGGAGGCGAGAAGATGGAGGGTGGCGTTCAGAGGAGCTGGGTCCTGGGAGGCTGGGAGAGCGGCTCATGGAGTTTCATTCCAAAGCCCTCGTTTCAAGCTGTCCCCGGGTACTTACGGGCCAGGATGATGGCCACCAGCAGCCCAAGCAGCAGGAGGAGCAGGCTGGAGAGCAGGAGGACACAGAGCCAGGAGAAGCGGCAGTCTGGCCGTAGCCCTCGAGGACGCCGACCTGCGGGTTGGCAGGTGGGGTTTTGAAAGCCCCTTCTGTTGGGTATTCCTCATGCTGTCCTTGGCTCCTGGGCCTCTCTGTCCTCCCCCAGGTCACCCCCTGGGATGGTTACCATGCCAGGGAGCTGGGACGCTGTAGCTGGCATCCTCTGGGAAAACTGGGGGAGGGCAGGGTGGCCCAGACTCAGGCTCGAAGGCAGGATTGCAGAACTCGGTCTGGAAGGGGGAGATACTTGAGGGCTGAGGGCAGCAGTGACCACTGGTGCTGGGTCTTAGGAGCACGATTCTATGTGGTCCTTACCTTGCTCGATTCTGTTGCCTCCATGCAGAGGATGACATCTGAGAAGTCCTTCATGGCACAAGGCTCTGCATGGCTTTCTGGAGTCCCTGTGACAGCCCAAGACCCCCAAGGGCCCACTCGCTGACCACAAACTCCCTGTCAGAGGGGCAGCCTCTACTACCCGAGGGAAAAGGCTGCCAGGCTAGACCAGTTCTTGGGCTGTCCTTGGTAGAGTGGTTTGGCCTATGGGCTACTCTGTCTCTGTGTGGGGGAAGGGATGGCAGCCAGGAGGAATTCACAAAGGCACGAAATGGTCCCTTAATCCAACTCAGCTGAGGATGCTGAGGTCAAGCCCCTGGCACAGGGTGGCAGTTCTTAAAGGCACAGGCGGTGGCTGAGAACACCCAGCAGAGGAAACTAGGTGCTCTGTGCGGGGATGTGACGAGGGGAGCTCTCCACCCCATCACCCAAGGCACTGAGTGAGCACTTAGGGGGTCGCTGGGAGGGGAGAGAAGTTGCAGGCAGAAGGGAGCCTTAGGTGGTCTGAGAAAGAAGCAGGGTGTAGGGGGTGGACAAAGCCAGCTGCCCACC | pathogenic | 189,398 |
Variant at chromosome position 119345562, chromosome 11, gene MFRP: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Isolated_microphthalmia_5', 'Retinal_dystrophy'] | CTCAAAAAAAGAAGAAAAAGAAAAATCAATGAGGGTTTGTAGGGGAGGTGGAAGTGGCCCCTGCCGGTGGGGAGGAACTGGGGCAGGGAGAGGTTTGGGGAAGGACCTCCTGGGGACAGGGAGAGTGTGGGGTGAAGGTTTTGAGGTGAGAGCTGTCTTTAGGGTGATGGTGAAGAGACCCCCGGCCTGGAGTAGCAGAAGAAAATGAAGCTGGAGAATGGAATGTGCTGGGCCGACATGGAAGCCGGGGGTGGCAGACAGTGAGGATGGAGTTATCCATGGCTCTTCCCTGGCTCCTGTACCTGCCCAGGAGGCTGAAGGCCCCTGAGCTGCTGGTCTCATACACCTCCACGTAGTCAAACTTGCACTCGTCCTGAGCCTCCAGGCTGAAGTTGTGGAACTGTAGTTCTATGCTGTGTCCGGCAGGCACCGAGATATGCCAGGTGCAGAGCTGGGGGAGGGCATAGGTGGAGCAATTCATGGCCCCTTCTCCTGTCTCATCCCGGGCACCCAGAAGGGTCTTCTTCCCCCACTGCTGGCTGGGGGGATGGGGTGGTGCTTTCATCATTGGTGGTTCTTAAGGACCTTTAATTTACCTGGTTTCAGAGGTGAGTTGACCCAGTGTGGGAACATCTGGGTACACAGCAGGCACTTAATAATATTCCCCCATCCCCCGTCTGCTTGATCTCTGACCTTCCCAAGTAGAAGGTAGTGTCTACCATGCCATTCCCATTACACTAACTTGGGGATCAGGTGCTTCCGTGTGTGCCCCTCCCGTTCTGCATGGAGCACTGTGCTTACCAGTTGGTGAGGGTACTGCTGCAGGTAGCTGGGAGTAGAGAAAGTGCCCTGGAGGCCAGTCAGATTCCCCCCACACCCTGTAGAGAGGTGGAAGGGCTCATGAGTTTGCTAGGATCTGTGCCTCCATCCAATAGGGCTGGCGGTGATTACAGAGCGAGAGTTTTGGCCATGCCCATGGGAAACAAGTTCTGGGCCAAAGAATGACTGAGCAGGAAATGCTGACGGAGGGCCCGGTTTGAGGCTGGACCAGAGCTGGGGAGCCCAGCTTGAACCCAGATCAGACGCCTGAAGAGAGGACCCCCATGCCTGGCCCGTACCCGAGAACTTGGCACTGCAATTGGTCTCATCACTGCCGTCAGCACAGTTGGCAAAACCATCACACACTGAGTCAGGTAGCAGGCAGATGAGCTGGTCACAGCGGAACTCATCATGGGCACAGCTCCCTGGATGTGGGCACCAGGAGTCAGGGAGGCCCGGAGTCTCCACCCCTTTGACAGGACTGGGAGTGGGTGGAGGGGAAGAAAGTGGACACTCAACAGGCAGGTGGGAACACACTCACCGCGCCCAGGGGCCATAGCCTGGTACCAGGCATGGAAACCAAATCCTTCCACACTGCTGTCAGAGACGAAGACCACCAGGAGGTGGCTGGCATTGGTGTTGAGCGTGGGGGGAGGCACCCTTCCACAAACCCTGCAAGAAGCCAGGTTGGGGGTGAGGGAGGCTCCAAGAGCAGGGTCAGCCAGAGAGGAGCTTGCCTGGGCCTTGCAGTCCTATTTTCTCAACCCCCAAACTGGTGACCATGTGGTCAAAAAGGCTCCTCTGATGTCCCAGGGAGCTCTGACCTTCCTAGCACCTGCACATTTATCCTTGTAGCATCTACTCATGGGGAGATAGGCAGGAGATCCATGTTACAGACTAGGAAACAGGTGAGAGAGGGGAAGTGATCTTCCTCACGGCACACAGCAAGGTGGTGGCAGAGCTGGGCCCAGAGGTCTAGTCTCTCAATTTCTTCCTCGGTTAGCCCTTCTCCCTGCCACTCCCTGATTCTGCTCTTTAGATAGTGGTTCAGGACACGGTGGGATGTCCTGGGGACAGAGGGACCTACCTGAGGAGGGGGCCTTCAGGCTCAGGGGAGAGTTCCAAGCGATCAAAAAGGCAAGAGGCCACACTCTCTATGCTGAGGGCTTCGATCTTGAGCTGTATTGCATGGTCTGTGGCCACCTGGATATGCCACACGCAGTGGGTGTTGGGGGGGTAAGGGTCTGGGTAGTTAGGGCTGCTGAAGAAGCCCCTTGGGCCAGAGAGGAGGCCTCCACAGGCTGCAGAGATGGAGGTTAGAGTTCAGAGGTCAAAAGGAGTGAGGTCCTTTATTCTCAAGGTGCCTCTTCCTCACCCTCCCCTCAACCCCACCCCGTCATCTTGGGCCCTTCTCCCGGAAGATCTGCCCCCAGTACTCACTGGACTGTGGGGAGGGGCTCACGCCTGACTCCTGCTGCCCTTTAGGGGTCCCAGCTGCCTGAGAGGTGGTGATGGTGGGGGTGGTGGTGGTCGTGGTAAGGCCTCCGGCAGGCAGTGGGCTATGGGACGCCCCAGATGGGGGTGCAGCCTGCAGCTCTGGAGGCGAGAAGATGGAGGGTGGCGTTCAGAGGAGCTGGGTCCTGGGAGGCTGGGAGAGCGGCTCATGGAGTTTCATTCCAAAGCCCTCGTTTCAAGCTGTCCCCGGGTACTTACGGGCCAGGATGATGGCCACCAGCAGCCCAAGCAGCAGGAGGAGCAGGCTGGAGAGCAGGAGGACACAGAGCCAGGAGAAGCGGCAGTCTGGCCGTAGCCCTCGAGGACGCCGACCTGCGGGTTGGCAGGTGGGGTTTTGAAAGCCCCTTCTGTTGGGTATTCCTCATGCTGTCCTTGGCTCCTGGGCCTCTCTGTCCTCCCCCAGGTCACCCCCTGGGATGGTTACCATGCCAGGGAGCTGGGACGCTGTAGCTGGCATCCTCTGGGAAAACTGGGGGAGGGCAGGGTGGCCCAGACTCAGGCTCGAAGGCAGGATTGCAGAACTCGGTCTGGAAGGGGGAGATACTTGAGGGCTGAGGGCAGCAGTGACCACTGGTGCTGGGTCTTAGGAGCACGATTCTATGTGGTCCTTACCTTGCTCGATTCTGTTGCCTCCATGCAGAGGATGACATCTGAGAAGTCCTTCATGGCACAAGGCTCTGCATGGCTTTCTGGAGTCCCTGTGACAGCCCAAGACCCCCAAGGGCCCACTCGCTGACCACAAACTCCCTGTCAGAGGGGCAGCCTCTACTACCCGAGGGAAAAGGCTGCCAGGCTAGACCAGTTCTTGGGCTGTCCTTGGTAGAGTGGTTTGGCCTATGGGCTACTCTGTCTCTGTGTGGGGGAAGGGATGGCAGCCAGGAGGAATTCACAAAGGCACGAAATGGTCCCTTAATCCAACTCAGCTGAGGATGCTGAGGTCAAGCCCCTGGCACAGGGTGGCAGTTCTTAAAGGCACAGGCGGTGGCTGAGAACACCCAGCAGAGGAAACTAGGTGCTCTGTGCGGGGATGTGACGAGGGGAGCTCTCCACCCCATCACCCAAGGCACTGAGTGAGCACTTAGGGGGTCGCTGGGAGGGGAGAGAAGTTGCAGGCAGAAGGGAGCCTTAGGTGGTCTGAGAAAGAAGCAGGGTGTAGGGGGTGGACAAAGCCAGCTGCCCACCTTTCCTCCCCACCAGGGTGACAGGGGTATTGGCCAGGCCGGGTCTTTGGAAGGCCCCTGGTAGATCACCGGTGTGACCAGGACAAGAGAGAAGAACATGGCATGAGCAGGGGGACTGGCTGCTCATTCCTGGGACCCCTAAGCCCGCAGGAGAAAGGACAGGGAAGGGGGAGAAGGTGCCCAGGTCTTGGGGAGGGTTGGGGTGTGGAGTCTAGCCACTGGGGCTGTTGCACAGTAGGAAACCTACACCCTGCAAACAAGATTACTTCATGCCTGTTTCTCCATGGGCGAAGTCCTCTTGGAAAATCCCAGCCTAGCCCTGCTGTCCTCAGGGAGAAAGGAAAGGGATTGGTAATCTGTTTTGTGTTAGCCATGCTTAGGCTGAGAGTTTGGCAGGGAGGGAAGTGGGGAGAGAGCCTCATATTTCTGGCTACTATTTGTAGAATGTCTGGGCAAGAGGGCTACATGCAGTTTCTCTCCTTTCATAACTATGAGGTAGCGTCACCATTTTACAAATGCTGGTGCTGGCCTCTGAGAGGTTATGTCACTTTCCCAAGGTCACACAGCTGGTAAGATACAGA | CTCAAAAAAAGAAGAAAAAGAAAAATCAATGAGGGTTTGTAGGGGAGGTGGAAGTGGCCCCTGCCGGTGGGGAGGAACTGGGGCAGGGAGAGGTTTGGGGAAGGACCTCCTGGGGACAGGGAGAGTGTGGGGTGAAGGTTTTGAGGTGAGAGCTGTCTTTAGGGTGATGGTGAAGAGACCCCCGGCCTGGAGTAGCAGAAGAAAATGAAGCTGGAGAATGGAATGTGCTGGGCCGACATGGAAGCCGGGGGTGGCAGACAGTGAGGATGGAGTTATCCATGGCTCTTCCCTGGCTCCTGTACCTGCCCAGGAGGCTGAAGGCCCCTGAGCTGCTGGTCTCATACACCTCCACGTAGTCAAACTTGCACTCGTCCTGAGCCTCCAGGCTGAAGTTGTGGAACTGTAGTTCTATGCTGTGTCCGGCAGGCACCGAGATATGCCAGGTGCAGAGCTGGGGGAGGGCATAGGTGGAGCAATTCATGGCCCCTTCTCCTGTCTCATCCCGGGCACCCAGAAGGGTCTTCTTCCCCCACTGCTGGCTGGGGGGATGGGGTGGTGCTTTCATCATTGGTGGTTCTTAAGGACCTTTAATTTACCTGGTTTCAGAGGTGAGTTGACCCAGTGTGGGAACATCTGGGTACACAGCAGGCACTTAATAATATTCCCCCATCCCCCGTCTGCTTGATCTCTGACCTTCCCAAGTAGAAGGTAGTGTCTACCATGCCATTCCCATTACACTAACTTGGGGATCAGGTGCTTCCGTGTGTGCCCCTCCCGTTCTGCATGGAGCACTGTGCTTACCAGTTGGTGAGGGTACTGCTGCAGGTAGCTGGGAGTAGAGAAAGTGCCCTGGAGGCCAGTCAGATTCCCCCCACACCCTGTAGAGAGGTGGAAGGGCTCATGAGTTTGCTAGGATCTGTGCCTCCATCCAATAGGGCTGGCGGTGATTACAGAGCGAGAGTTTTGGCCATGCCCATGGGAAACAAGTTCTGGGCCAAAGAATGACTGAGCAGGAAATGCTGACGGAGGGCCCGGTTTGAGGCTGGACCAGAGCTGGGGAGCCCAGCTTGAACCCAGATCAGACGCCTGAAGAGAGGACCCCCATGCCTGGCCCGTACCCGAGAACTTGGCACTGCAATTGGTCTCATCACTGCCGTCAGCACAGTTGGCAAAACCATCACACACTGAGTCAGGTAGCAGGCAGATGAGCTGGTCACAGCGGAACTCATCATGGGCACAGCTCCCTGGATGTGGGCACCAGGAGTCAGGGAGGCCCGGAGTCTCCACCCCTTTGACAGGACTGGGAGTGGGTGGAGGGGAAGAAAGTGGACACTCAACAGGCAGGTGGGAACACACTCACCGCGCCCAGGGGCCATAGCCTGGTACCAGGCATGGAAACCAAATCCTTCCACACTGCTGTCAGAGACGAAGACCACCAGGAGGTGGCTGGCATTGGTGTTGAGCGTGGGGGGAGGCACCCTTCCACAAACCCTGCAAGAAGCCAGGTTGGGGGTGAGGGAGGCTCCAAGAGCAGGGTCAGCCAGAGAGGAGCTTGCCTGGGCCTTGCAGTCCTATTTTCTCAACCCCCAAACTGGTGACCATGTGGTCAAAAAGGCTCCTCTGATGTCCCAGGGAGCTCTGACCTTCCTAGCACCTGCACATTTATCCTTGTAGCATCTACTCATGGGGAGATAGGCAGGAGATCCATGTTACAGACTAGGAAACAGGTGAGAGAGGGGAAGTGATCTTCCTCACGGCACACAGCAAGGTGGTGGCAGAGCTGGGCCCAGAGGTCTAGTCTCTCAATTTCTTCCTCGGTTAGCCCTTCTCCCTGCCACTCCCTGATTCTGCTCTTTAGATAGTGGTTCAGGACACGGTGGGATGTCCTGGGGACAGAGGGACCTACCTGAGGAGGGGGCCTTCAGGCTCAGGGGAGAGTTCCAAGCGATCAAAAAGGCAAGAGGCCACACTCTCTATGCTGAGGGCTTCGATCTTGAGCTGTATTGCATGGTCTGTGGCCACCTGGATATGCCACACGCAGTGGGTGTTGGGGGGGGTAAGGGTCTGGGTAGTTAGGGCTGCTGAAGAAGCCCCTTGGGCCAGAGAGGAGGCCTCCACAGGCTGCAGAGATGGAGGTTAGAGTTCAGAGGTCAAAAGGAGTGAGGTCCTTTATTCTCAAGGTGCCTCTTCCTCACCCTCCCCTCAACCCCACCCCGTCATCTTGGGCCCTTCTCCCGGAAGATCTGCCCCCAGTACTCACTGGACTGTGGGGAGGGGCTCACGCCTGACTCCTGCTGCCCTTTAGGGGTCCCAGCTGCCTGAGAGGTGGTGATGGTGGGGGTGGTGGTGGTCGTGGTAAGGCCTCCGGCAGGCAGTGGGCTATGGGACGCCCCAGATGGGGGTGCAGCCTGCAGCTCTGGAGGCGAGAAGATGGAGGGTGGCGTTCAGAGGAGCTGGGTCCTGGGAGGCTGGGAGAGCGGCTCATGGAGTTTCATTCCAAAGCCCTCGTTTCAAGCTGTCCCCGGGTACTTACGGGCCAGGATGATGGCCACCAGCAGCCCAAGCAGCAGGAGGAGCAGGCTGGAGAGCAGGAGGACACAGAGCCAGGAGAAGCGGCAGTCTGGCCGTAGCCCTCGAGGACGCCGACCTGCGGGTTGGCAGGTGGGGTTTTGAAAGCCCCTTCTGTTGGGTATTCCTCATGCTGTCCTTGGCTCCTGGGCCTCTCTGTCCTCCCCCAGGTCACCCCCTGGGATGGTTACCATGCCAGGGAGCTGGGACGCTGTAGCTGGCATCCTCTGGGAAAACTGGGGGAGGGCAGGGTGGCCCAGACTCAGGCTCGAAGGCAGGATTGCAGAACTCGGTCTGGAAGGGGGAGATACTTGAGGGCTGAGGGCAGCAGTGACCACTGGTGCTGGGTCTTAGGAGCACGATTCTATGTGGTCCTTACCTTGCTCGATTCTGTTGCCTCCATGCAGAGGATGACATCTGAGAAGTCCTTCATGGCACAAGGCTCTGCATGGCTTTCTGGAGTCCCTGTGACAGCCCAAGACCCCCAAGGGCCCACTCGCTGACCACAAACTCCCTGTCAGAGGGGCAGCCTCTACTACCCGAGGGAAAAGGCTGCCAGGCTAGACCAGTTCTTGGGCTGTCCTTGGTAGAGTGGTTTGGCCTATGGGCTACTCTGTCTCTGTGTGGGGGAAGGGATGGCAGCCAGGAGGAATTCACAAAGGCACGAAATGGTCCCTTAATCCAACTCAGCTGAGGATGCTGAGGTCAAGCCCCTGGCACAGGGTGGCAGTTCTTAAAGGCACAGGCGGTGGCTGAGAACACCCAGCAGAGGAAACTAGGTGCTCTGTGCGGGGATGTGACGAGGGGAGCTCTCCACCCCATCACCCAAGGCACTGAGTGAGCACTTAGGGGGTCGCTGGGAGGGGAGAGAAGTTGCAGGCAGAAGGGAGCCTTAGGTGGTCTGAGAAAGAAGCAGGGTGTAGGGGGTGGACAAAGCCAGCTGCCCACCTTTCCTCCCCACCAGGGTGACAGGGGTATTGGCCAGGCCGGGTCTTTGGAAGGCCCCTGGTAGATCACCGGTGTGACCAGGACAAGAGAGAAGAACATGGCATGAGCAGGGGGACTGGCTGCTCATTCCTGGGACCCCTAAGCCCGCAGGAGAAAGGACAGGGAAGGGGGAGAAGGTGCCCAGGTCTTGGGGAGGGTTGGGGTGTGGAGTCTAGCCACTGGGGCTGTTGCACAGTAGGAAACCTACACCCTGCAAACAAGATTACTTCATGCCTGTTTCTCCATGGGCGAAGTCCTCTTGGAAAATCCCAGCCTAGCCCTGCTGTCCTCAGGGAGAAAGGAAAGGGATTGGTAATCTGTTTTGTGTTAGCCATGCTTAGGCTGAGAGTTTGGCAGGGAGGGAAGTGGGGAGAGAGCCTCATATTTCTGGCTACTATTTGTAGAATGTCTGGGCAAGAGGGCTACATGCAGTTTCTCTCCTTTCATAACTATGAGGTAGCGTCACCATTTTACAAATGCTGGTGCTGGCCTCTGAGAGGTTATGTCACTTTCCCAAGGTCACACAGCTGGTAAGATACAG | pathogenic | 189,405 |
Is the genetic change at chromosome 11, position 119345562, within gene MFRP benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Isolated_microphthalmia_5', 'MFRP-related_disorder', 'Nanophthalmos_2', 'Retinal_dystrophy'] | CTCAAAAAAAGAAGAAAAAGAAAAATCAATGAGGGTTTGTAGGGGAGGTGGAAGTGGCCCCTGCCGGTGGGGAGGAACTGGGGCAGGGAGAGGTTTGGGGAAGGACCTCCTGGGGACAGGGAGAGTGTGGGGTGAAGGTTTTGAGGTGAGAGCTGTCTTTAGGGTGATGGTGAAGAGACCCCCGGCCTGGAGTAGCAGAAGAAAATGAAGCTGGAGAATGGAATGTGCTGGGCCGACATGGAAGCCGGGGGTGGCAGACAGTGAGGATGGAGTTATCCATGGCTCTTCCCTGGCTCCTGTACCTGCCCAGGAGGCTGAAGGCCCCTGAGCTGCTGGTCTCATACACCTCCACGTAGTCAAACTTGCACTCGTCCTGAGCCTCCAGGCTGAAGTTGTGGAACTGTAGTTCTATGCTGTGTCCGGCAGGCACCGAGATATGCCAGGTGCAGAGCTGGGGGAGGGCATAGGTGGAGCAATTCATGGCCCCTTCTCCTGTCTCATCCCGGGCACCCAGAAGGGTCTTCTTCCCCCACTGCTGGCTGGGGGGATGGGGTGGTGCTTTCATCATTGGTGGTTCTTAAGGACCTTTAATTTACCTGGTTTCAGAGGTGAGTTGACCCAGTGTGGGAACATCTGGGTACACAGCAGGCACTTAATAATATTCCCCCATCCCCCGTCTGCTTGATCTCTGACCTTCCCAAGTAGAAGGTAGTGTCTACCATGCCATTCCCATTACACTAACTTGGGGATCAGGTGCTTCCGTGTGTGCCCCTCCCGTTCTGCATGGAGCACTGTGCTTACCAGTTGGTGAGGGTACTGCTGCAGGTAGCTGGGAGTAGAGAAAGTGCCCTGGAGGCCAGTCAGATTCCCCCCACACCCTGTAGAGAGGTGGAAGGGCTCATGAGTTTGCTAGGATCTGTGCCTCCATCCAATAGGGCTGGCGGTGATTACAGAGCGAGAGTTTTGGCCATGCCCATGGGAAACAAGTTCTGGGCCAAAGAATGACTGAGCAGGAAATGCTGACGGAGGGCCCGGTTTGAGGCTGGACCAGAGCTGGGGAGCCCAGCTTGAACCCAGATCAGACGCCTGAAGAGAGGACCCCCATGCCTGGCCCGTACCCGAGAACTTGGCACTGCAATTGGTCTCATCACTGCCGTCAGCACAGTTGGCAAAACCATCACACACTGAGTCAGGTAGCAGGCAGATGAGCTGGTCACAGCGGAACTCATCATGGGCACAGCTCCCTGGATGTGGGCACCAGGAGTCAGGGAGGCCCGGAGTCTCCACCCCTTTGACAGGACTGGGAGTGGGTGGAGGGGAAGAAAGTGGACACTCAACAGGCAGGTGGGAACACACTCACCGCGCCCAGGGGCCATAGCCTGGTACCAGGCATGGAAACCAAATCCTTCCACACTGCTGTCAGAGACGAAGACCACCAGGAGGTGGCTGGCATTGGTGTTGAGCGTGGGGGGAGGCACCCTTCCACAAACCCTGCAAGAAGCCAGGTTGGGGGTGAGGGAGGCTCCAAGAGCAGGGTCAGCCAGAGAGGAGCTTGCCTGGGCCTTGCAGTCCTATTTTCTCAACCCCCAAACTGGTGACCATGTGGTCAAAAAGGCTCCTCTGATGTCCCAGGGAGCTCTGACCTTCCTAGCACCTGCACATTTATCCTTGTAGCATCTACTCATGGGGAGATAGGCAGGAGATCCATGTTACAGACTAGGAAACAGGTGAGAGAGGGGAAGTGATCTTCCTCACGGCACACAGCAAGGTGGTGGCAGAGCTGGGCCCAGAGGTCTAGTCTCTCAATTTCTTCCTCGGTTAGCCCTTCTCCCTGCCACTCCCTGATTCTGCTCTTTAGATAGTGGTTCAGGACACGGTGGGATGTCCTGGGGACAGAGGGACCTACCTGAGGAGGGGGCCTTCAGGCTCAGGGGAGAGTTCCAAGCGATCAAAAAGGCAAGAGGCCACACTCTCTATGCTGAGGGCTTCGATCTTGAGCTGTATTGCATGGTCTGTGGCCACCTGGATATGCCACACGCAGTGGGTGTTGGGGGGGTAAGGGTCTGGGTAGTTAGGGCTGCTGAAGAAGCCCCTTGGGCCAGAGAGGAGGCCTCCACAGGCTGCAGAGATGGAGGTTAGAGTTCAGAGGTCAAAAGGAGTGAGGTCCTTTATTCTCAAGGTGCCTCTTCCTCACCCTCCCCTCAACCCCACCCCGTCATCTTGGGCCCTTCTCCCGGAAGATCTGCCCCCAGTACTCACTGGACTGTGGGGAGGGGCTCACGCCTGACTCCTGCTGCCCTTTAGGGGTCCCAGCTGCCTGAGAGGTGGTGATGGTGGGGGTGGTGGTGGTCGTGGTAAGGCCTCCGGCAGGCAGTGGGCTATGGGACGCCCCAGATGGGGGTGCAGCCTGCAGCTCTGGAGGCGAGAAGATGGAGGGTGGCGTTCAGAGGAGCTGGGTCCTGGGAGGCTGGGAGAGCGGCTCATGGAGTTTCATTCCAAAGCCCTCGTTTCAAGCTGTCCCCGGGTACTTACGGGCCAGGATGATGGCCACCAGCAGCCCAAGCAGCAGGAGGAGCAGGCTGGAGAGCAGGAGGACACAGAGCCAGGAGAAGCGGCAGTCTGGCCGTAGCCCTCGAGGACGCCGACCTGCGGGTTGGCAGGTGGGGTTTTGAAAGCCCCTTCTGTTGGGTATTCCTCATGCTGTCCTTGGCTCCTGGGCCTCTCTGTCCTCCCCCAGGTCACCCCCTGGGATGGTTACCATGCCAGGGAGCTGGGACGCTGTAGCTGGCATCCTCTGGGAAAACTGGGGGAGGGCAGGGTGGCCCAGACTCAGGCTCGAAGGCAGGATTGCAGAACTCGGTCTGGAAGGGGGAGATACTTGAGGGCTGAGGGCAGCAGTGACCACTGGTGCTGGGTCTTAGGAGCACGATTCTATGTGGTCCTTACCTTGCTCGATTCTGTTGCCTCCATGCAGAGGATGACATCTGAGAAGTCCTTCATGGCACAAGGCTCTGCATGGCTTTCTGGAGTCCCTGTGACAGCCCAAGACCCCCAAGGGCCCACTCGCTGACCACAAACTCCCTGTCAGAGGGGCAGCCTCTACTACCCGAGGGAAAAGGCTGCCAGGCTAGACCAGTTCTTGGGCTGTCCTTGGTAGAGTGGTTTGGCCTATGGGCTACTCTGTCTCTGTGTGGGGGAAGGGATGGCAGCCAGGAGGAATTCACAAAGGCACGAAATGGTCCCTTAATCCAACTCAGCTGAGGATGCTGAGGTCAAGCCCCTGGCACAGGGTGGCAGTTCTTAAAGGCACAGGCGGTGGCTGAGAACACCCAGCAGAGGAAACTAGGTGCTCTGTGCGGGGATGTGACGAGGGGAGCTCTCCACCCCATCACCCAAGGCACTGAGTGAGCACTTAGGGGGTCGCTGGGAGGGGAGAGAAGTTGCAGGCAGAAGGGAGCCTTAGGTGGTCTGAGAAAGAAGCAGGGTGTAGGGGGTGGACAAAGCCAGCTGCCCACCTTTCCTCCCCACCAGGGTGACAGGGGTATTGGCCAGGCCGGGTCTTTGGAAGGCCCCTGGTAGATCACCGGTGTGACCAGGACAAGAGAGAAGAACATGGCATGAGCAGGGGGACTGGCTGCTCATTCCTGGGACCCCTAAGCCCGCAGGAGAAAGGACAGGGAAGGGGGAGAAGGTGCCCAGGTCTTGGGGAGGGTTGGGGTGTGGAGTCTAGCCACTGGGGCTGTTGCACAGTAGGAAACCTACACCCTGCAAACAAGATTACTTCATGCCTGTTTCTCCATGGGCGAAGTCCTCTTGGAAAATCCCAGCCTAGCCCTGCTGTCCTCAGGGAGAAAGGAAAGGGATTGGTAATCTGTTTTGTGTTAGCCATGCTTAGGCTGAGAGTTTGGCAGGGAGGGAAGTGGGGAGAGAGCCTCATATTTCTGGCTACTATTTGTAGAATGTCTGGGCAAGAGGGCTACATGCAGTTTCTCTCCTTTCATAACTATGAGGTAGCGTCACCATTTTACAAATGCTGGTGCTGGCCTCTGAGAGGTTATGTCACTTTCCCAAGGTCACACAGCTGGTAAGATACAGA | CTCAAAAAAAGAAGAAAAAGAAAAATCAATGAGGGTTTGTAGGGGAGGTGGAAGTGGCCCCTGCCGGTGGGGAGGAACTGGGGCAGGGAGAGGTTTGGGGAAGGACCTCCTGGGGACAGGGAGAGTGTGGGGTGAAGGTTTTGAGGTGAGAGCTGTCTTTAGGGTGATGGTGAAGAGACCCCCGGCCTGGAGTAGCAGAAGAAAATGAAGCTGGAGAATGGAATGTGCTGGGCCGACATGGAAGCCGGGGGTGGCAGACAGTGAGGATGGAGTTATCCATGGCTCTTCCCTGGCTCCTGTACCTGCCCAGGAGGCTGAAGGCCCCTGAGCTGCTGGTCTCATACACCTCCACGTAGTCAAACTTGCACTCGTCCTGAGCCTCCAGGCTGAAGTTGTGGAACTGTAGTTCTATGCTGTGTCCGGCAGGCACCGAGATATGCCAGGTGCAGAGCTGGGGGAGGGCATAGGTGGAGCAATTCATGGCCCCTTCTCCTGTCTCATCCCGGGCACCCAGAAGGGTCTTCTTCCCCCACTGCTGGCTGGGGGGATGGGGTGGTGCTTTCATCATTGGTGGTTCTTAAGGACCTTTAATTTACCTGGTTTCAGAGGTGAGTTGACCCAGTGTGGGAACATCTGGGTACACAGCAGGCACTTAATAATATTCCCCCATCCCCCGTCTGCTTGATCTCTGACCTTCCCAAGTAGAAGGTAGTGTCTACCATGCCATTCCCATTACACTAACTTGGGGATCAGGTGCTTCCGTGTGTGCCCCTCCCGTTCTGCATGGAGCACTGTGCTTACCAGTTGGTGAGGGTACTGCTGCAGGTAGCTGGGAGTAGAGAAAGTGCCCTGGAGGCCAGTCAGATTCCCCCCACACCCTGTAGAGAGGTGGAAGGGCTCATGAGTTTGCTAGGATCTGTGCCTCCATCCAATAGGGCTGGCGGTGATTACAGAGCGAGAGTTTTGGCCATGCCCATGGGAAACAAGTTCTGGGCCAAAGAATGACTGAGCAGGAAATGCTGACGGAGGGCCCGGTTTGAGGCTGGACCAGAGCTGGGGAGCCCAGCTTGAACCCAGATCAGACGCCTGAAGAGAGGACCCCCATGCCTGGCCCGTACCCGAGAACTTGGCACTGCAATTGGTCTCATCACTGCCGTCAGCACAGTTGGCAAAACCATCACACACTGAGTCAGGTAGCAGGCAGATGAGCTGGTCACAGCGGAACTCATCATGGGCACAGCTCCCTGGATGTGGGCACCAGGAGTCAGGGAGGCCCGGAGTCTCCACCCCTTTGACAGGACTGGGAGTGGGTGGAGGGGAAGAAAGTGGACACTCAACAGGCAGGTGGGAACACACTCACCGCGCCCAGGGGCCATAGCCTGGTACCAGGCATGGAAACCAAATCCTTCCACACTGCTGTCAGAGACGAAGACCACCAGGAGGTGGCTGGCATTGGTGTTGAGCGTGGGGGGAGGCACCCTTCCACAAACCCTGCAAGAAGCCAGGTTGGGGGTGAGGGAGGCTCCAAGAGCAGGGTCAGCCAGAGAGGAGCTTGCCTGGGCCTTGCAGTCCTATTTTCTCAACCCCCAAACTGGTGACCATGTGGTCAAAAAGGCTCCTCTGATGTCCCAGGGAGCTCTGACCTTCCTAGCACCTGCACATTTATCCTTGTAGCATCTACTCATGGGGAGATAGGCAGGAGATCCATGTTACAGACTAGGAAACAGGTGAGAGAGGGGAAGTGATCTTCCTCACGGCACACAGCAAGGTGGTGGCAGAGCTGGGCCCAGAGGTCTAGTCTCTCAATTTCTTCCTCGGTTAGCCCTTCTCCCTGCCACTCCCTGATTCTGCTCTTTAGATAGTGGTTCAGGACACGGTGGGATGTCCTGGGGACAGAGGGACCTACCTGAGGAGGGGGCCTTCAGGCTCAGGGGAGAGTTCCAAGCGATCAAAAAGGCAAGAGGCCACACTCTCTATGCTGAGGGCTTCGATCTTGAGCTGTATTGCATGGTCTGTGGCCACCTGGATATGCCACACGCAGTGGGTGTTGGGGGGTAAGGGTCTGGGTAGTTAGGGCTGCTGAAGAAGCCCCTTGGGCCAGAGAGGAGGCCTCCACAGGCTGCAGAGATGGAGGTTAGAGTTCAGAGGTCAAAAGGAGTGAGGTCCTTTATTCTCAAGGTGCCTCTTCCTCACCCTCCCCTCAACCCCACCCCGTCATCTTGGGCCCTTCTCCCGGAAGATCTGCCCCCAGTACTCACTGGACTGTGGGGAGGGGCTCACGCCTGACTCCTGCTGCCCTTTAGGGGTCCCAGCTGCCTGAGAGGTGGTGATGGTGGGGGTGGTGGTGGTCGTGGTAAGGCCTCCGGCAGGCAGTGGGCTATGGGACGCCCCAGATGGGGGTGCAGCCTGCAGCTCTGGAGGCGAGAAGATGGAGGGTGGCGTTCAGAGGAGCTGGGTCCTGGGAGGCTGGGAGAGCGGCTCATGGAGTTTCATTCCAAAGCCCTCGTTTCAAGCTGTCCCCGGGTACTTACGGGCCAGGATGATGGCCACCAGCAGCCCAAGCAGCAGGAGGAGCAGGCTGGAGAGCAGGAGGACACAGAGCCAGGAGAAGCGGCAGTCTGGCCGTAGCCCTCGAGGACGCCGACCTGCGGGTTGGCAGGTGGGGTTTTGAAAGCCCCTTCTGTTGGGTATTCCTCATGCTGTCCTTGGCTCCTGGGCCTCTCTGTCCTCCCCCAGGTCACCCCCTGGGATGGTTACCATGCCAGGGAGCTGGGACGCTGTAGCTGGCATCCTCTGGGAAAACTGGGGGAGGGCAGGGTGGCCCAGACTCAGGCTCGAAGGCAGGATTGCAGAACTCGGTCTGGAAGGGGGAGATACTTGAGGGCTGAGGGCAGCAGTGACCACTGGTGCTGGGTCTTAGGAGCACGATTCTATGTGGTCCTTACCTTGCTCGATTCTGTTGCCTCCATGCAGAGGATGACATCTGAGAAGTCCTTCATGGCACAAGGCTCTGCATGGCTTTCTGGAGTCCCTGTGACAGCCCAAGACCCCCAAGGGCCCACTCGCTGACCACAAACTCCCTGTCAGAGGGGCAGCCTCTACTACCCGAGGGAAAAGGCTGCCAGGCTAGACCAGTTCTTGGGCTGTCCTTGGTAGAGTGGTTTGGCCTATGGGCTACTCTGTCTCTGTGTGGGGGAAGGGATGGCAGCCAGGAGGAATTCACAAAGGCACGAAATGGTCCCTTAATCCAACTCAGCTGAGGATGCTGAGGTCAAGCCCCTGGCACAGGGTGGCAGTTCTTAAAGGCACAGGCGGTGGCTGAGAACACCCAGCAGAGGAAACTAGGTGCTCTGTGCGGGGATGTGACGAGGGGAGCTCTCCACCCCATCACCCAAGGCACTGAGTGAGCACTTAGGGGGTCGCTGGGAGGGGAGAGAAGTTGCAGGCAGAAGGGAGCCTTAGGTGGTCTGAGAAAGAAGCAGGGTGTAGGGGGTGGACAAAGCCAGCTGCCCACCTTTCCTCCCCACCAGGGTGACAGGGGTATTGGCCAGGCCGGGTCTTTGGAAGGCCCCTGGTAGATCACCGGTGTGACCAGGACAAGAGAGAAGAACATGGCATGAGCAGGGGGACTGGCTGCTCATTCCTGGGACCCCTAAGCCCGCAGGAGAAAGGACAGGGAAGGGGGAGAAGGTGCCCAGGTCTTGGGGAGGGTTGGGGTGTGGAGTCTAGCCACTGGGGCTGTTGCACAGTAGGAAACCTACACCCTGCAAACAAGATTACTTCATGCCTGTTTCTCCATGGGCGAAGTCCTCTTGGAAAATCCCAGCCTAGCCCTGCTGTCCTCAGGGAGAAAGGAAAGGGATTGGTAATCTGTTTTGTGTTAGCCATGCTTAGGCTGAGAGTTTGGCAGGGAGGGAAGTGGGGAGAGAGCCTCATATTTCTGGCTACTATTTGTAGAATGTCTGGGCAAGAGGGCTACATGCAGTTTCTCTCCTTTCATAACTATGAGGTAGCGTCACCATTTTACAAATGCTGGTGCTGGCCTCTGAGAGGTTATGTCACTTTCCCAAGGTCACACAGCTGGTAAGATACAGAN | pathogenic | 189,406 |
Is the chromosome 11, position 119345569 variant in MFRP clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Isolated_microphthalmia_5', 'Nanophthalmos_2', 'Retinal_dystrophy'] | AAAGAAGAAAAAGAAAAATCAATGAGGGTTTGTAGGGGAGGTGGAAGTGGCCCCTGCCGGTGGGGAGGAACTGGGGCAGGGAGAGGTTTGGGGAAGGACCTCCTGGGGACAGGGAGAGTGTGGGGTGAAGGTTTTGAGGTGAGAGCTGTCTTTAGGGTGATGGTGAAGAGACCCCCGGCCTGGAGTAGCAGAAGAAAATGAAGCTGGAGAATGGAATGTGCTGGGCCGACATGGAAGCCGGGGGTGGCAGACAGTGAGGATGGAGTTATCCATGGCTCTTCCCTGGCTCCTGTACCTGCCCAGGAGGCTGAAGGCCCCTGAGCTGCTGGTCTCATACACCTCCACGTAGTCAAACTTGCACTCGTCCTGAGCCTCCAGGCTGAAGTTGTGGAACTGTAGTTCTATGCTGTGTCCGGCAGGCACCGAGATATGCCAGGTGCAGAGCTGGGGGAGGGCATAGGTGGAGCAATTCATGGCCCCTTCTCCTGTCTCATCCCGGGCACCCAGAAGGGTCTTCTTCCCCCACTGCTGGCTGGGGGGATGGGGTGGTGCTTTCATCATTGGTGGTTCTTAAGGACCTTTAATTTACCTGGTTTCAGAGGTGAGTTGACCCAGTGTGGGAACATCTGGGTACACAGCAGGCACTTAATAATATTCCCCCATCCCCCGTCTGCTTGATCTCTGACCTTCCCAAGTAGAAGGTAGTGTCTACCATGCCATTCCCATTACACTAACTTGGGGATCAGGTGCTTCCGTGTGTGCCCCTCCCGTTCTGCATGGAGCACTGTGCTTACCAGTTGGTGAGGGTACTGCTGCAGGTAGCTGGGAGTAGAGAAAGTGCCCTGGAGGCCAGTCAGATTCCCCCCACACCCTGTAGAGAGGTGGAAGGGCTCATGAGTTTGCTAGGATCTGTGCCTCCATCCAATAGGGCTGGCGGTGATTACAGAGCGAGAGTTTTGGCCATGCCCATGGGAAACAAGTTCTGGGCCAAAGAATGACTGAGCAGGAAATGCTGACGGAGGGCCCGGTTTGAGGCTGGACCAGAGCTGGGGAGCCCAGCTTGAACCCAGATCAGACGCCTGAAGAGAGGACCCCCATGCCTGGCCCGTACCCGAGAACTTGGCACTGCAATTGGTCTCATCACTGCCGTCAGCACAGTTGGCAAAACCATCACACACTGAGTCAGGTAGCAGGCAGATGAGCTGGTCACAGCGGAACTCATCATGGGCACAGCTCCCTGGATGTGGGCACCAGGAGTCAGGGAGGCCCGGAGTCTCCACCCCTTTGACAGGACTGGGAGTGGGTGGAGGGGAAGAAAGTGGACACTCAACAGGCAGGTGGGAACACACTCACCGCGCCCAGGGGCCATAGCCTGGTACCAGGCATGGAAACCAAATCCTTCCACACTGCTGTCAGAGACGAAGACCACCAGGAGGTGGCTGGCATTGGTGTTGAGCGTGGGGGGAGGCACCCTTCCACAAACCCTGCAAGAAGCCAGGTTGGGGGTGAGGGAGGCTCCAAGAGCAGGGTCAGCCAGAGAGGAGCTTGCCTGGGCCTTGCAGTCCTATTTTCTCAACCCCCAAACTGGTGACCATGTGGTCAAAAAGGCTCCTCTGATGTCCCAGGGAGCTCTGACCTTCCTAGCACCTGCACATTTATCCTTGTAGCATCTACTCATGGGGAGATAGGCAGGAGATCCATGTTACAGACTAGGAAACAGGTGAGAGAGGGGAAGTGATCTTCCTCACGGCACACAGCAAGGTGGTGGCAGAGCTGGGCCCAGAGGTCTAGTCTCTCAATTTCTTCCTCGGTTAGCCCTTCTCCCTGCCACTCCCTGATTCTGCTCTTTAGATAGTGGTTCAGGACACGGTGGGATGTCCTGGGGACAGAGGGACCTACCTGAGGAGGGGGCCTTCAGGCTCAGGGGAGAGTTCCAAGCGATCAAAAAGGCAAGAGGCCACACTCTCTATGCTGAGGGCTTCGATCTTGAGCTGTATTGCATGGTCTGTGGCCACCTGGATATGCCACACGCAGTGGGTGTTGGGGGGGTAAGGGTCTGGGTAGTTAGGGCTGCTGAAGAAGCCCCTTGGGCCAGAGAGGAGGCCTCCACAGGCTGCAGAGATGGAGGTTAGAGTTCAGAGGTCAAAAGGAGTGAGGTCCTTTATTCTCAAGGTGCCTCTTCCTCACCCTCCCCTCAACCCCACCCCGTCATCTTGGGCCCTTCTCCCGGAAGATCTGCCCCCAGTACTCACTGGACTGTGGGGAGGGGCTCACGCCTGACTCCTGCTGCCCTTTAGGGGTCCCAGCTGCCTGAGAGGTGGTGATGGTGGGGGTGGTGGTGGTCGTGGTAAGGCCTCCGGCAGGCAGTGGGCTATGGGACGCCCCAGATGGGGGTGCAGCCTGCAGCTCTGGAGGCGAGAAGATGGAGGGTGGCGTTCAGAGGAGCTGGGTCCTGGGAGGCTGGGAGAGCGGCTCATGGAGTTTCATTCCAAAGCCCTCGTTTCAAGCTGTCCCCGGGTACTTACGGGCCAGGATGATGGCCACCAGCAGCCCAAGCAGCAGGAGGAGCAGGCTGGAGAGCAGGAGGACACAGAGCCAGGAGAAGCGGCAGTCTGGCCGTAGCCCTCGAGGACGCCGACCTGCGGGTTGGCAGGTGGGGTTTTGAAAGCCCCTTCTGTTGGGTATTCCTCATGCTGTCCTTGGCTCCTGGGCCTCTCTGTCCTCCCCCAGGTCACCCCCTGGGATGGTTACCATGCCAGGGAGCTGGGACGCTGTAGCTGGCATCCTCTGGGAAAACTGGGGGAGGGCAGGGTGGCCCAGACTCAGGCTCGAAGGCAGGATTGCAGAACTCGGTCTGGAAGGGGGAGATACTTGAGGGCTGAGGGCAGCAGTGACCACTGGTGCTGGGTCTTAGGAGCACGATTCTATGTGGTCCTTACCTTGCTCGATTCTGTTGCCTCCATGCAGAGGATGACATCTGAGAAGTCCTTCATGGCACAAGGCTCTGCATGGCTTTCTGGAGTCCCTGTGACAGCCCAAGACCCCCAAGGGCCCACTCGCTGACCACAAACTCCCTGTCAGAGGGGCAGCCTCTACTACCCGAGGGAAAAGGCTGCCAGGCTAGACCAGTTCTTGGGCTGTCCTTGGTAGAGTGGTTTGGCCTATGGGCTACTCTGTCTCTGTGTGGGGGAAGGGATGGCAGCCAGGAGGAATTCACAAAGGCACGAAATGGTCCCTTAATCCAACTCAGCTGAGGATGCTGAGGTCAAGCCCCTGGCACAGGGTGGCAGTTCTTAAAGGCACAGGCGGTGGCTGAGAACACCCAGCAGAGGAAACTAGGTGCTCTGTGCGGGGATGTGACGAGGGGAGCTCTCCACCCCATCACCCAAGGCACTGAGTGAGCACTTAGGGGGTCGCTGGGAGGGGAGAGAAGTTGCAGGCAGAAGGGAGCCTTAGGTGGTCTGAGAAAGAAGCAGGGTGTAGGGGGTGGACAAAGCCAGCTGCCCACCTTTCCTCCCCACCAGGGTGACAGGGGTATTGGCCAGGCCGGGTCTTTGGAAGGCCCCTGGTAGATCACCGGTGTGACCAGGACAAGAGAGAAGAACATGGCATGAGCAGGGGGACTGGCTGCTCATTCCTGGGACCCCTAAGCCCGCAGGAGAAAGGACAGGGAAGGGGGAGAAGGTGCCCAGGTCTTGGGGAGGGTTGGGGTGTGGAGTCTAGCCACTGGGGCTGTTGCACAGTAGGAAACCTACACCCTGCAAACAAGATTACTTCATGCCTGTTTCTCCATGGGCGAAGTCCTCTTGGAAAATCCCAGCCTAGCCCTGCTGTCCTCAGGGAGAAAGGAAAGGGATTGGTAATCTGTTTTGTGTTAGCCATGCTTAGGCTGAGAGTTTGGCAGGGAGGGAAGTGGGGAGAGAGCCTCATATTTCTGGCTACTATTTGTAGAATGTCTGGGCAAGAGGGCTACATGCAGTTTCTCTCCTTTCATAACTATGAGGTAGCGTCACCATTTTACAAATGCTGGTGCTGGCCTCTGAGAGGTTATGTCACTTTCCCAAGGTCACACAGCTGGTAAGATACAGAGATGAGA | AAAGAAGAAAAAGAAAAATCAATGAGGGTTTGTAGGGGAGGTGGAAGTGGCCCCTGCCGGTGGGGAGGAACTGGGGCAGGGAGAGGTTTGGGGAAGGACCTCCTGGGGACAGGGAGAGTGTGGGGTGAAGGTTTTGAGGTGAGAGCTGTCTTTAGGGTGATGGTGAAGAGACCCCCGGCCTGGAGTAGCAGAAGAAAATGAAGCTGGAGAATGGAATGTGCTGGGCCGACATGGAAGCCGGGGGTGGCAGACAGTGAGGATGGAGTTATCCATGGCTCTTCCCTGGCTCCTGTACCTGCCCAGGAGGCTGAAGGCCCCTGAGCTGCTGGTCTCATACACCTCCACGTAGTCAAACTTGCACTCGTCCTGAGCCTCCAGGCTGAAGTTGTGGAACTGTAGTTCTATGCTGTGTCCGGCAGGCACCGAGATATGCCAGGTGCAGAGCTGGGGGAGGGCATAGGTGGAGCAATTCATGGCCCCTTCTCCTGTCTCATCCCGGGCACCCAGAAGGGTCTTCTTCCCCCACTGCTGGCTGGGGGGATGGGGTGGTGCTTTCATCATTGGTGGTTCTTAAGGACCTTTAATTTACCTGGTTTCAGAGGTGAGTTGACCCAGTGTGGGAACATCTGGGTACACAGCAGGCACTTAATAATATTCCCCCATCCCCCGTCTGCTTGATCTCTGACCTTCCCAAGTAGAAGGTAGTGTCTACCATGCCATTCCCATTACACTAACTTGGGGATCAGGTGCTTCCGTGTGTGCCCCTCCCGTTCTGCATGGAGCACTGTGCTTACCAGTTGGTGAGGGTACTGCTGCAGGTAGCTGGGAGTAGAGAAAGTGCCCTGGAGGCCAGTCAGATTCCCCCCACACCCTGTAGAGAGGTGGAAGGGCTCATGAGTTTGCTAGGATCTGTGCCTCCATCCAATAGGGCTGGCGGTGATTACAGAGCGAGAGTTTTGGCCATGCCCATGGGAAACAAGTTCTGGGCCAAAGAATGACTGAGCAGGAAATGCTGACGGAGGGCCCGGTTTGAGGCTGGACCAGAGCTGGGGAGCCCAGCTTGAACCCAGATCAGACGCCTGAAGAGAGGACCCCCATGCCTGGCCCGTACCCGAGAACTTGGCACTGCAATTGGTCTCATCACTGCCGTCAGCACAGTTGGCAAAACCATCACACACTGAGTCAGGTAGCAGGCAGATGAGCTGGTCACAGCGGAACTCATCATGGGCACAGCTCCCTGGATGTGGGCACCAGGAGTCAGGGAGGCCCGGAGTCTCCACCCCTTTGACAGGACTGGGAGTGGGTGGAGGGGAAGAAAGTGGACACTCAACAGGCAGGTGGGAACACACTCACCGCGCCCAGGGGCCATAGCCTGGTACCAGGCATGGAAACCAAATCCTTCCACACTGCTGTCAGAGACGAAGACCACCAGGAGGTGGCTGGCATTGGTGTTGAGCGTGGGGGGAGGCACCCTTCCACAAACCCTGCAAGAAGCCAGGTTGGGGGTGAGGGAGGCTCCAAGAGCAGGGTCAGCCAGAGAGGAGCTTGCCTGGGCCTTGCAGTCCTATTTTCTCAACCCCCAAACTGGTGACCATGTGGTCAAAAAGGCTCCTCTGATGTCCCAGGGAGCTCTGACCTTCCTAGCACCTGCACATTTATCCTTGTAGCATCTACTCATGGGGAGATAGGCAGGAGATCCATGTTACAGACTAGGAAACAGGTGAGAGAGGGGAAGTGATCTTCCTCACGGCACACAGCAAGGTGGTGGCAGAGCTGGGCCCAGAGGTCTAGTCTCTCAATTTCTTCCTCGGTTAGCCCTTCTCCCTGCCACTCCCTGATTCTGCTCTTTAGATAGTGGTTCAGGACACGGTGGGATGTCCTGGGGACAGAGGGACCTACCTGAGGAGGGGGCCTTCAGGCTCAGGGGAGAGTTCCAAGCGATCAAAAAGGCAAGAGGCCACACTCTCTATGCTGAGGGCTTCGATCTTGAGCTGTATTGCATGGTCTGTGGCCACCTGGATATGCCACACGCAGTGGGTGTTGGGGGGGATAAGGGTCTGGGTAGTTAGGGCTGCTGAAGAAGCCCCTTGGGCCAGAGAGGAGGCCTCCACAGGCTGCAGAGATGGAGGTTAGAGTTCAGAGGTCAAAAGGAGTGAGGTCCTTTATTCTCAAGGTGCCTCTTCCTCACCCTCCCCTCAACCCCACCCCGTCATCTTGGGCCCTTCTCCCGGAAGATCTGCCCCCAGTACTCACTGGACTGTGGGGAGGGGCTCACGCCTGACTCCTGCTGCCCTTTAGGGGTCCCAGCTGCCTGAGAGGTGGTGATGGTGGGGGTGGTGGTGGTCGTGGTAAGGCCTCCGGCAGGCAGTGGGCTATGGGACGCCCCAGATGGGGGTGCAGCCTGCAGCTCTGGAGGCGAGAAGATGGAGGGTGGCGTTCAGAGGAGCTGGGTCCTGGGAGGCTGGGAGAGCGGCTCATGGAGTTTCATTCCAAAGCCCTCGTTTCAAGCTGTCCCCGGGTACTTACGGGCCAGGATGATGGCCACCAGCAGCCCAAGCAGCAGGAGGAGCAGGCTGGAGAGCAGGAGGACACAGAGCCAGGAGAAGCGGCAGTCTGGCCGTAGCCCTCGAGGACGCCGACCTGCGGGTTGGCAGGTGGGGTTTTGAAAGCCCCTTCTGTTGGGTATTCCTCATGCTGTCCTTGGCTCCTGGGCCTCTCTGTCCTCCCCCAGGTCACCCCCTGGGATGGTTACCATGCCAGGGAGCTGGGACGCTGTAGCTGGCATCCTCTGGGAAAACTGGGGGAGGGCAGGGTGGCCCAGACTCAGGCTCGAAGGCAGGATTGCAGAACTCGGTCTGGAAGGGGGAGATACTTGAGGGCTGAGGGCAGCAGTGACCACTGGTGCTGGGTCTTAGGAGCACGATTCTATGTGGTCCTTACCTTGCTCGATTCTGTTGCCTCCATGCAGAGGATGACATCTGAGAAGTCCTTCATGGCACAAGGCTCTGCATGGCTTTCTGGAGTCCCTGTGACAGCCCAAGACCCCCAAGGGCCCACTCGCTGACCACAAACTCCCTGTCAGAGGGGCAGCCTCTACTACCCGAGGGAAAAGGCTGCCAGGCTAGACCAGTTCTTGGGCTGTCCTTGGTAGAGTGGTTTGGCCTATGGGCTACTCTGTCTCTGTGTGGGGGAAGGGATGGCAGCCAGGAGGAATTCACAAAGGCACGAAATGGTCCCTTAATCCAACTCAGCTGAGGATGCTGAGGTCAAGCCCCTGGCACAGGGTGGCAGTTCTTAAAGGCACAGGCGGTGGCTGAGAACACCCAGCAGAGGAAACTAGGTGCTCTGTGCGGGGATGTGACGAGGGGAGCTCTCCACCCCATCACCCAAGGCACTGAGTGAGCACTTAGGGGGTCGCTGGGAGGGGAGAGAAGTTGCAGGCAGAAGGGAGCCTTAGGTGGTCTGAGAAAGAAGCAGGGTGTAGGGGGTGGACAAAGCCAGCTGCCCACCTTTCCTCCCCACCAGGGTGACAGGGGTATTGGCCAGGCCGGGTCTTTGGAAGGCCCCTGGTAGATCACCGGTGTGACCAGGACAAGAGAGAAGAACATGGCATGAGCAGGGGGACTGGCTGCTCATTCCTGGGACCCCTAAGCCCGCAGGAGAAAGGACAGGGAAGGGGGAGAAGGTGCCCAGGTCTTGGGGAGGGTTGGGGTGTGGAGTCTAGCCACTGGGGCTGTTGCACAGTAGGAAACCTACACCCTGCAAACAAGATTACTTCATGCCTGTTTCTCCATGGGCGAAGTCCTCTTGGAAAATCCCAGCCTAGCCCTGCTGTCCTCAGGGAGAAAGGAAAGGGATTGGTAATCTGTTTTGTGTTAGCCATGCTTAGGCTGAGAGTTTGGCAGGGAGGGAAGTGGGGAGAGAGCCTCATATTTCTGGCTACTATTTGTAGAATGTCTGGGCAAGAGGGCTACATGCAGTTTCTCTCCTTTCATAACTATGAGGTAGCGTCACCATTTTACAAATGCTGGTGCTGGCCTCTGAGAGGTTATGTCACTTTCCCAAGGTCACACAGCTGGTAAGATACAGAGATGAG | pathogenic | 189,408 |
Classify the chromosome 11 variant at position 119345901 affecting gene MFRP as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Isolated_microphthalmia_5'] | CATACACCTCCACGTAGTCAAACTTGCACTCGTCCTGAGCCTCCAGGCTGAAGTTGTGGAACTGTAGTTCTATGCTGTGTCCGGCAGGCACCGAGATATGCCAGGTGCAGAGCTGGGGGAGGGCATAGGTGGAGCAATTCATGGCCCCTTCTCCTGTCTCATCCCGGGCACCCAGAAGGGTCTTCTTCCCCCACTGCTGGCTGGGGGGATGGGGTGGTGCTTTCATCATTGGTGGTTCTTAAGGACCTTTAATTTACCTGGTTTCAGAGGTGAGTTGACCCAGTGTGGGAACATCTGGGTACACAGCAGGCACTTAATAATATTCCCCCATCCCCCGTCTGCTTGATCTCTGACCTTCCCAAGTAGAAGGTAGTGTCTACCATGCCATTCCCATTACACTAACTTGGGGATCAGGTGCTTCCGTGTGTGCCCCTCCCGTTCTGCATGGAGCACTGTGCTTACCAGTTGGTGAGGGTACTGCTGCAGGTAGCTGGGAGTAGAGAAAGTGCCCTGGAGGCCAGTCAGATTCCCCCCACACCCTGTAGAGAGGTGGAAGGGCTCATGAGTTTGCTAGGATCTGTGCCTCCATCCAATAGGGCTGGCGGTGATTACAGAGCGAGAGTTTTGGCCATGCCCATGGGAAACAAGTTCTGGGCCAAAGAATGACTGAGCAGGAAATGCTGACGGAGGGCCCGGTTTGAGGCTGGACCAGAGCTGGGGAGCCCAGCTTGAACCCAGATCAGACGCCTGAAGAGAGGACCCCCATGCCTGGCCCGTACCCGAGAACTTGGCACTGCAATTGGTCTCATCACTGCCGTCAGCACAGTTGGCAAAACCATCACACACTGAGTCAGGTAGCAGGCAGATGAGCTGGTCACAGCGGAACTCATCATGGGCACAGCTCCCTGGATGTGGGCACCAGGAGTCAGGGAGGCCCGGAGTCTCCACCCCTTTGACAGGACTGGGAGTGGGTGGAGGGGAAGAAAGTGGACACTCAACAGGCAGGTGGGAACACACTCACCGCGCCCAGGGGCCATAGCCTGGTACCAGGCATGGAAACCAAATCCTTCCACACTGCTGTCAGAGACGAAGACCACCAGGAGGTGGCTGGCATTGGTGTTGAGCGTGGGGGGAGGCACCCTTCCACAAACCCTGCAAGAAGCCAGGTTGGGGGTGAGGGAGGCTCCAAGAGCAGGGTCAGCCAGAGAGGAGCTTGCCTGGGCCTTGCAGTCCTATTTTCTCAACCCCCAAACTGGTGACCATGTGGTCAAAAAGGCTCCTCTGATGTCCCAGGGAGCTCTGACCTTCCTAGCACCTGCACATTTATCCTTGTAGCATCTACTCATGGGGAGATAGGCAGGAGATCCATGTTACAGACTAGGAAACAGGTGAGAGAGGGGAAGTGATCTTCCTCACGGCACACAGCAAGGTGGTGGCAGAGCTGGGCCCAGAGGTCTAGTCTCTCAATTTCTTCCTCGGTTAGCCCTTCTCCCTGCCACTCCCTGATTCTGCTCTTTAGATAGTGGTTCAGGACACGGTGGGATGTCCTGGGGACAGAGGGACCTACCTGAGGAGGGGGCCTTCAGGCTCAGGGGAGAGTTCCAAGCGATCAAAAAGGCAAGAGGCCACACTCTCTATGCTGAGGGCTTCGATCTTGAGCTGTATTGCATGGTCTGTGGCCACCTGGATATGCCACACGCAGTGGGTGTTGGGGGGGTAAGGGTCTGGGTAGTTAGGGCTGCTGAAGAAGCCCCTTGGGCCAGAGAGGAGGCCTCCACAGGCTGCAGAGATGGAGGTTAGAGTTCAGAGGTCAAAAGGAGTGAGGTCCTTTATTCTCAAGGTGCCTCTTCCTCACCCTCCCCTCAACCCCACCCCGTCATCTTGGGCCCTTCTCCCGGAAGATCTGCCCCCAGTACTCACTGGACTGTGGGGAGGGGCTCACGCCTGACTCCTGCTGCCCTTTAGGGGTCCCAGCTGCCTGAGAGGTGGTGATGGTGGGGGTGGTGGTGGTCGTGGTAAGGCCTCCGGCAGGCAGTGGGCTATGGGACGCCCCAGATGGGGGTGCAGCCTGCAGCTCTGGAGGCGAGAAGATGGAGGGTGGCGTTCAGAGGAGCTGGGTCCTGGGAGGCTGGGAGAGCGGCTCATGGAGTTTCATTCCAAAGCCCTCGTTTCAAGCTGTCCCCGGGTACTTACGGGCCAGGATGATGGCCACCAGCAGCCCAAGCAGCAGGAGGAGCAGGCTGGAGAGCAGGAGGACACAGAGCCAGGAGAAGCGGCAGTCTGGCCGTAGCCCTCGAGGACGCCGACCTGCGGGTTGGCAGGTGGGGTTTTGAAAGCCCCTTCTGTTGGGTATTCCTCATGCTGTCCTTGGCTCCTGGGCCTCTCTGTCCTCCCCCAGGTCACCCCCTGGGATGGTTACCATGCCAGGGAGCTGGGACGCTGTAGCTGGCATCCTCTGGGAAAACTGGGGGAGGGCAGGGTGGCCCAGACTCAGGCTCGAAGGCAGGATTGCAGAACTCGGTCTGGAAGGGGGAGATACTTGAGGGCTGAGGGCAGCAGTGACCACTGGTGCTGGGTCTTAGGAGCACGATTCTATGTGGTCCTTACCTTGCTCGATTCTGTTGCCTCCATGCAGAGGATGACATCTGAGAAGTCCTTCATGGCACAAGGCTCTGCATGGCTTTCTGGAGTCCCTGTGACAGCCCAAGACCCCCAAGGGCCCACTCGCTGACCACAAACTCCCTGTCAGAGGGGCAGCCTCTACTACCCGAGGGAAAAGGCTGCCAGGCTAGACCAGTTCTTGGGCTGTCCTTGGTAGAGTGGTTTGGCCTATGGGCTACTCTGTCTCTGTGTGGGGGAAGGGATGGCAGCCAGGAGGAATTCACAAAGGCACGAAATGGTCCCTTAATCCAACTCAGCTGAGGATGCTGAGGTCAAGCCCCTGGCACAGGGTGGCAGTTCTTAAAGGCACAGGCGGTGGCTGAGAACACCCAGCAGAGGAAACTAGGTGCTCTGTGCGGGGATGTGACGAGGGGAGCTCTCCACCCCATCACCCAAGGCACTGAGTGAGCACTTAGGGGGTCGCTGGGAGGGGAGAGAAGTTGCAGGCAGAAGGGAGCCTTAGGTGGTCTGAGAAAGAAGCAGGGTGTAGGGGGTGGACAAAGCCAGCTGCCCACCTTTCCTCCCCACCAGGGTGACAGGGGTATTGGCCAGGCCGGGTCTTTGGAAGGCCCCTGGTAGATCACCGGTGTGACCAGGACAAGAGAGAAGAACATGGCATGAGCAGGGGGACTGGCTGCTCATTCCTGGGACCCCTAAGCCCGCAGGAGAAAGGACAGGGAAGGGGGAGAAGGTGCCCAGGTCTTGGGGAGGGTTGGGGTGTGGAGTCTAGCCACTGGGGCTGTTGCACAGTAGGAAACCTACACCCTGCAAACAAGATTACTTCATGCCTGTTTCTCCATGGGCGAAGTCCTCTTGGAAAATCCCAGCCTAGCCCTGCTGTCCTCAGGGAGAAAGGAAAGGGATTGGTAATCTGTTTTGTGTTAGCCATGCTTAGGCTGAGAGTTTGGCAGGGAGGGAAGTGGGGAGAGAGCCTCATATTTCTGGCTACTATTTGTAGAATGTCTGGGCAAGAGGGCTACATGCAGTTTCTCTCCTTTCATAACTATGAGGTAGCGTCACCATTTTACAAATGCTGGTGCTGGCCTCTGAGAGGTTATGTCACTTTCCCAAGGTCACACAGCTGGTAAGATACAGAGATGAGAGTTGAGCCTAGGAATGGATAGATCTTAGGCTCACGTTTTCTATGATGTACCTCTTTCACCCCACATTGGGGCTGAGGCATGCTGGGGGAGCAGAGGGATCAGAGTGACATGGGGGCAGAGTGAGGAACCCCTTGGGGATGGAAGCAAAGAGGACAGGCTGCCCTCCTTGCACTCAGGAAAGGAGATGCCTCCACCCACAAGTTTTTCTCCATTCGTCCCTGGAGGGTCTTAGTTTGCTTTTGTCTAGGGGGTCAAGCTGTTTCCTAGACCCTTGGAAGTCTAATGGTACATGGTCTTTAGGGAAGAGACTTTTTGGGAGCTGTAGGGACAGG | CATACACCTCCACGTAGTCAAACTTGCACTCGTCCTGAGCCTCCAGGCTGAAGTTGTGGAACTGTAGTTCTATGCTGTGTCCGGCAGGCACCGAGATATGCCAGGTGCAGAGCTGGGGGAGGGCATAGGTGGAGCAATTCATGGCCCCTTCTCCTGTCTCATCCCGGGCACCCAGAAGGGTCTTCTTCCCCCACTGCTGGCTGGGGGGATGGGGTGGTGCTTTCATCATTGGTGGTTCTTAAGGACCTTTAATTTACCTGGTTTCAGAGGTGAGTTGACCCAGTGTGGGAACATCTGGGTACACAGCAGGCACTTAATAATATTCCCCCATCCCCCGTCTGCTTGATCTCTGACCTTCCCAAGTAGAAGGTAGTGTCTACCATGCCATTCCCATTACACTAACTTGGGGATCAGGTGCTTCCGTGTGTGCCCCTCCCGTTCTGCATGGAGCACTGTGCTTACCAGTTGGTGAGGGTACTGCTGCAGGTAGCTGGGAGTAGAGAAAGTGCCCTGGAGGCCAGTCAGATTCCCCCCACACCCTGTAGAGAGGTGGAAGGGCTCATGAGTTTGCTAGGATCTGTGCCTCCATCCAATAGGGCTGGCGGTGATTACAGAGCGAGAGTTTTGGCCATGCCCATGGGAAACAAGTTCTGGGCCAAAGAATGACTGAGCAGGAAATGCTGACGGAGGGCCCGGTTTGAGGCTGGACCAGAGCTGGGGAGCCCAGCTTGAACCCAGATCAGACGCCTGAAGAGAGGACCCCCATGCCTGGCCCGTACCCGAGAACTTGGCACTGCAATTGGTCTCATCACTGCCGTCAGCACAGTTGGCAAAACCATCACACACTGAGTCAGGTAGCAGGCAGATGAGCTGGTCACAGCGGAACTCATCATGGGCACAGCTCCCTGGATGTGGGCACCAGGAGTCAGGGAGGCCCGGAGTCTCCACCCCTTTGACAGGACTGGGAGTGGGTGGAGGGGAAGAAAGTGGACACTCAACAGGCAGGTGGGAACACACTCACCGCGCCCAGGGGCCATAGCCTGGTACCAGGCATGGAAACCAAATCCTTCCACACTGCTGTCAGAGACGAAGACCACCAGGAGGTGGCTGGCATTGGTGTTGAGCGTGGGGGGAGGCACCCTTCCACAAACCCTGCAAGAAGCCAGGTTGGGGGTGAGGGAGGCTCCAAGAGCAGGGTCAGCCAGAGAGGAGCTTGCCTGGGCCTTGCAGTCCTATTTTCTCAACCCCCAAACTGGTGACCATGTGGTCAAAAAGGCTCCTCTGATGTCCCAGGGAGCTCTGACCTTCCTAGCACCTGCACATTTATCCTTGTAGCATCTACTCATGGGGAGATAGGCAGGAGATCCATGTTACAGACTAGGAAACAGGTGAGAGAGGGGAAGTGATCTTCCTCACGGCACACAGCAAGGTGGTGGCAGAGCTGGGCCCAGAGGTCTAGTCTCTCAATTTCTTCCTCGGTTAGCCCTTCTCCCTGCCACTCCCTGATTCTGCTCTTTAGATAGTGGTTCAGGACACGGTGGGATGTCCTGGGGACAGAGGGACCTACCTGAGGAGGGGGCCTTCAGGCTCAGGGGAGAGTTCCAAGCGATCAAAAAGGCAAGAGGCCACACTCTCTATGCTGAGGGCTTCGATCTTGAGCTGTATTGCATGGTCTGTGGCCACCTGGATATGCCACACGCAGTGGGTGTTGGGGGGGTAAGGGTCTGGGTAGTTAGGGCTGCTGAAGAAGCCCCTTGGGCCAGAGAGGAGGCCTCCACAGGCTGCAGAGATGGAGGTTAGAGTTCAGAGGTCAAAAGGAGTGAGGTCCTTTATTCTCAAGGTGCCTCTTCCTCACCCTCCCCTCAACCCCACCCCGTCATCTTGGGCCCTTCTCCCGGAAGATCTGCCCCCAGTACTCACTGGACTGTGGGGAGGGGCTCACGCCTGACTCCTGCTGCCCTTTAGGGGTCCCAGCTGCCTGAGAGGTGGTGATGGTGGGGGTGGTGGTGGTCGTGGTAAGGCCTCCGGCAGGCAGTGGGCTATGGGACGCCCAGATGGGGGTGCAGCCTGCAGCTCTGGAGGCGAGAAGATGGAGGGTGGCGTTCAGAGGAGCTGGGTCCTGGGAGGCTGGGAGAGCGGCTCATGGAGTTTCATTCCAAAGCCCTCGTTTCAAGCTGTCCCCGGGTACTTACGGGCCAGGATGATGGCCACCAGCAGCCCAAGCAGCAGGAGGAGCAGGCTGGAGAGCAGGAGGACACAGAGCCAGGAGAAGCGGCAGTCTGGCCGTAGCCCTCGAGGACGCCGACCTGCGGGTTGGCAGGTGGGGTTTTGAAAGCCCCTTCTGTTGGGTATTCCTCATGCTGTCCTTGGCTCCTGGGCCTCTCTGTCCTCCCCCAGGTCACCCCCTGGGATGGTTACCATGCCAGGGAGCTGGGACGCTGTAGCTGGCATCCTCTGGGAAAACTGGGGGAGGGCAGGGTGGCCCAGACTCAGGCTCGAAGGCAGGATTGCAGAACTCGGTCTGGAAGGGGGAGATACTTGAGGGCTGAGGGCAGCAGTGACCACTGGTGCTGGGTCTTAGGAGCACGATTCTATGTGGTCCTTACCTTGCTCGATTCTGTTGCCTCCATGCAGAGGATGACATCTGAGAAGTCCTTCATGGCACAAGGCTCTGCATGGCTTTCTGGAGTCCCTGTGACAGCCCAAGACCCCCAAGGGCCCACTCGCTGACCACAAACTCCCTGTCAGAGGGGCAGCCTCTACTACCCGAGGGAAAAGGCTGCCAGGCTAGACCAGTTCTTGGGCTGTCCTTGGTAGAGTGGTTTGGCCTATGGGCTACTCTGTCTCTGTGTGGGGGAAGGGATGGCAGCCAGGAGGAATTCACAAAGGCACGAAATGGTCCCTTAATCCAACTCAGCTGAGGATGCTGAGGTCAAGCCCCTGGCACAGGGTGGCAGTTCTTAAAGGCACAGGCGGTGGCTGAGAACACCCAGCAGAGGAAACTAGGTGCTCTGTGCGGGGATGTGACGAGGGGAGCTCTCCACCCCATCACCCAAGGCACTGAGTGAGCACTTAGGGGGTCGCTGGGAGGGGAGAGAAGTTGCAGGCAGAAGGGAGCCTTAGGTGGTCTGAGAAAGAAGCAGGGTGTAGGGGGTGGACAAAGCCAGCTGCCCACCTTTCCTCCCCACCAGGGTGACAGGGGTATTGGCCAGGCCGGGTCTTTGGAAGGCCCCTGGTAGATCACCGGTGTGACCAGGACAAGAGAGAAGAACATGGCATGAGCAGGGGGACTGGCTGCTCATTCCTGGGACCCCTAAGCCCGCAGGAGAAAGGACAGGGAAGGGGGAGAAGGTGCCCAGGTCTTGGGGAGGGTTGGGGTGTGGAGTCTAGCCACTGGGGCTGTTGCACAGTAGGAAACCTACACCCTGCAAACAAGATTACTTCATGCCTGTTTCTCCATGGGCGAAGTCCTCTTGGAAAATCCCAGCCTAGCCCTGCTGTCCTCAGGGAGAAAGGAAAGGGATTGGTAATCTGTTTTGTGTTAGCCATGCTTAGGCTGAGAGTTTGGCAGGGAGGGAAGTGGGGAGAGAGCCTCATATTTCTGGCTACTATTTGTAGAATGTCTGGGCAAGAGGGCTACATGCAGTTTCTCTCCTTTCATAACTATGAGGTAGCGTCACCATTTTACAAATGCTGGTGCTGGCCTCTGAGAGGTTATGTCACTTTCCCAAGGTCACACAGCTGGTAAGATACAGAGATGAGAGTTGAGCCTAGGAATGGATAGATCTTAGGCTCACGTTTTCTATGATGTACCTCTTTCACCCCACATTGGGGCTGAGGCATGCTGGGGGAGCAGAGGGATCAGAGTGACATGGGGGCAGAGTGAGGAACCCCTTGGGGATGGAAGCAAAGAGGACAGGCTGCCCTCCTTGCACTCAGGAAAGGAGATGCCTCCACCCACAAGTTTTTCTCCATTCGTCCCTGGAGGGTCTTAGTTTGCTTTTGTCTAGGGGGTCAAGCTGTTTCCTAGACCCTTGGAAGTCTAATGGTACATGGTCTTTAGGGAAGAGACTTTTTGGGAGCTGTAGGGACAGGN | pathogenic | 189,412 |
Does the variant on chromosome 11 at location 119346388 affecting gene MFRP have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TAGCTGGGAGTAGAGAAAGTGCCCTGGAGGCCAGTCAGATTCCCCCCACACCCTGTAGAGAGGTGGAAGGGCTCATGAGTTTGCTAGGATCTGTGCCTCCATCCAATAGGGCTGGCGGTGATTACAGAGCGAGAGTTTTGGCCATGCCCATGGGAAACAAGTTCTGGGCCAAAGAATGACTGAGCAGGAAATGCTGACGGAGGGCCCGGTTTGAGGCTGGACCAGAGCTGGGGAGCCCAGCTTGAACCCAGATCAGACGCCTGAAGAGAGGACCCCCATGCCTGGCCCGTACCCGAGAACTTGGCACTGCAATTGGTCTCATCACTGCCGTCAGCACAGTTGGCAAAACCATCACACACTGAGTCAGGTAGCAGGCAGATGAGCTGGTCACAGCGGAACTCATCATGGGCACAGCTCCCTGGATGTGGGCACCAGGAGTCAGGGAGGCCCGGAGTCTCCACCCCTTTGACAGGACTGGGAGTGGGTGGAGGGGAAGAAAGTGGACACTCAACAGGCAGGTGGGAACACACTCACCGCGCCCAGGGGCCATAGCCTGGTACCAGGCATGGAAACCAAATCCTTCCACACTGCTGTCAGAGACGAAGACCACCAGGAGGTGGCTGGCATTGGTGTTGAGCGTGGGGGGAGGCACCCTTCCACAAACCCTGCAAGAAGCCAGGTTGGGGGTGAGGGAGGCTCCAAGAGCAGGGTCAGCCAGAGAGGAGCTTGCCTGGGCCTTGCAGTCCTATTTTCTCAACCCCCAAACTGGTGACCATGTGGTCAAAAAGGCTCCTCTGATGTCCCAGGGAGCTCTGACCTTCCTAGCACCTGCACATTTATCCTTGTAGCATCTACTCATGGGGAGATAGGCAGGAGATCCATGTTACAGACTAGGAAACAGGTGAGAGAGGGGAAGTGATCTTCCTCACGGCACACAGCAAGGTGGTGGCAGAGCTGGGCCCAGAGGTCTAGTCTCTCAATTTCTTCCTCGGTTAGCCCTTCTCCCTGCCACTCCCTGATTCTGCTCTTTAGATAGTGGTTCAGGACACGGTGGGATGTCCTGGGGACAGAGGGACCTACCTGAGGAGGGGGCCTTCAGGCTCAGGGGAGAGTTCCAAGCGATCAAAAAGGCAAGAGGCCACACTCTCTATGCTGAGGGCTTCGATCTTGAGCTGTATTGCATGGTCTGTGGCCACCTGGATATGCCACACGCAGTGGGTGTTGGGGGGGTAAGGGTCTGGGTAGTTAGGGCTGCTGAAGAAGCCCCTTGGGCCAGAGAGGAGGCCTCCACAGGCTGCAGAGATGGAGGTTAGAGTTCAGAGGTCAAAAGGAGTGAGGTCCTTTATTCTCAAGGTGCCTCTTCCTCACCCTCCCCTCAACCCCACCCCGTCATCTTGGGCCCTTCTCCCGGAAGATCTGCCCCCAGTACTCACTGGACTGTGGGGAGGGGCTCACGCCTGACTCCTGCTGCCCTTTAGGGGTCCCAGCTGCCTGAGAGGTGGTGATGGTGGGGGTGGTGGTGGTCGTGGTAAGGCCTCCGGCAGGCAGTGGGCTATGGGACGCCCCAGATGGGGGTGCAGCCTGCAGCTCTGGAGGCGAGAAGATGGAGGGTGGCGTTCAGAGGAGCTGGGTCCTGGGAGGCTGGGAGAGCGGCTCATGGAGTTTCATTCCAAAGCCCTCGTTTCAAGCTGTCCCCGGGTACTTACGGGCCAGGATGATGGCCACCAGCAGCCCAAGCAGCAGGAGGAGCAGGCTGGAGAGCAGGAGGACACAGAGCCAGGAGAAGCGGCAGTCTGGCCGTAGCCCTCGAGGACGCCGACCTGCGGGTTGGCAGGTGGGGTTTTGAAAGCCCCTTCTGTTGGGTATTCCTCATGCTGTCCTTGGCTCCTGGGCCTCTCTGTCCTCCCCCAGGTCACCCCCTGGGATGGTTACCATGCCAGGGAGCTGGGACGCTGTAGCTGGCATCCTCTGGGAAAACTGGGGGAGGGCAGGGTGGCCCAGACTCAGGCTCGAAGGCAGGATTGCAGAACTCGGTCTGGAAGGGGGAGATACTTGAGGGCTGAGGGCAGCAGTGACCACTGGTGCTGGGTCTTAGGAGCACGATTCTATGTGGTCCTTACCTTGCTCGATTCTGTTGCCTCCATGCAGAGGATGACATCTGAGAAGTCCTTCATGGCACAAGGCTCTGCATGGCTTTCTGGAGTCCCTGTGACAGCCCAAGACCCCCAAGGGCCCACTCGCTGACCACAAACTCCCTGTCAGAGGGGCAGCCTCTACTACCCGAGGGAAAAGGCTGCCAGGCTAGACCAGTTCTTGGGCTGTCCTTGGTAGAGTGGTTTGGCCTATGGGCTACTCTGTCTCTGTGTGGGGGAAGGGATGGCAGCCAGGAGGAATTCACAAAGGCACGAAATGGTCCCTTAATCCAACTCAGCTGAGGATGCTGAGGTCAAGCCCCTGGCACAGGGTGGCAGTTCTTAAAGGCACAGGCGGTGGCTGAGAACACCCAGCAGAGGAAACTAGGTGCTCTGTGCGGGGATGTGACGAGGGGAGCTCTCCACCCCATCACCCAAGGCACTGAGTGAGCACTTAGGGGGTCGCTGGGAGGGGAGAGAAGTTGCAGGCAGAAGGGAGCCTTAGGTGGTCTGAGAAAGAAGCAGGGTGTAGGGGGTGGACAAAGCCAGCTGCCCACCTTTCCTCCCCACCAGGGTGACAGGGGTATTGGCCAGGCCGGGTCTTTGGAAGGCCCCTGGTAGATCACCGGTGTGACCAGGACAAGAGAGAAGAACATGGCATGAGCAGGGGGACTGGCTGCTCATTCCTGGGACCCCTAAGCCCGCAGGAGAAAGGACAGGGAAGGGGGAGAAGGTGCCCAGGTCTTGGGGAGGGTTGGGGTGTGGAGTCTAGCCACTGGGGCTGTTGCACAGTAGGAAACCTACACCCTGCAAACAAGATTACTTCATGCCTGTTTCTCCATGGGCGAAGTCCTCTTGGAAAATCCCAGCCTAGCCCTGCTGTCCTCAGGGAGAAAGGAAAGGGATTGGTAATCTGTTTTGTGTTAGCCATGCTTAGGCTGAGAGTTTGGCAGGGAGGGAAGTGGGGAGAGAGCCTCATATTTCTGGCTACTATTTGTAGAATGTCTGGGCAAGAGGGCTACATGCAGTTTCTCTCCTTTCATAACTATGAGGTAGCGTCACCATTTTACAAATGCTGGTGCTGGCCTCTGAGAGGTTATGTCACTTTCCCAAGGTCACACAGCTGGTAAGATACAGAGATGAGAGTTGAGCCTAGGAATGGATAGATCTTAGGCTCACGTTTTCTATGATGTACCTCTTTCACCCCACATTGGGGCTGAGGCATGCTGGGGGAGCAGAGGGATCAGAGTGACATGGGGGCAGAGTGAGGAACCCCTTGGGGATGGAAGCAAAGAGGACAGGCTGCCCTCCTTGCACTCAGGAAAGGAGATGCCTCCACCCACAAGTTTTTCTCCATTCGTCCCTGGAGGGTCTTAGTTTGCTTTTGTCTAGGGGGTCAAGCTGTTTCCTAGACCCTTGGAAGTCTAATGGTACATGGTCTTTAGGGAAGAGACTTTTTGGGAGCTGTAGGGACAGGTGCTCTTGGAGAGGATCAGACAGTCCCTGACCACAAAGTACTTCTCATTCTGGGTGGATCAAGACAGAGCAGGATTCCTGCCACACTGTGTGTTAAGAGCCTGGCCACAGGGGCAGCTTCCTGGACAGAGTGGCCCTGCGCTGAGCTTTGAGAATGATGAGCTGGGAGAGCCACGCCCTTGGGTCTGCTCCTCTGAAGCTGCTCGTTCGCTGTGATCATTGAGAGAGAGGTTGCTGTGCCGGGGTCTGGCCAGGCACTGGGCTCATGGAGCCGACTGAGACAAGGTGCCCTCGTCTCAAGGAGCCCCTGCTCTGCTGTGACAGTTCTCAAAGTGGGGCCCGGGGCCTTTTTTTAGAGGACTTGAGAGCTTAGAACTAGGCTCATAATAACACTAAGACATGATGTGCCTTTTTCACACTCATTCATGTTTTCCAGACGCTCCGTGACATGTGATATGACATTGGGGTGAATGCTGAAGGAGACGCGA | TAGCTGGGAGTAGAGAAAGTGCCCTGGAGGCCAGTCAGATTCCCCCCACACCCTGTAGAGAGGTGGAAGGGCTCATGAGTTTGCTAGGATCTGTGCCTCCATCCAATAGGGCTGGCGGTGATTACAGAGCGAGAGTTTTGGCCATGCCCATGGGAAACAAGTTCTGGGCCAAAGAATGACTGAGCAGGAAATGCTGACGGAGGGCCCGGTTTGAGGCTGGACCAGAGCTGGGGAGCCCAGCTTGAACCCAGATCAGACGCCTGAAGAGAGGACCCCCATGCCTGGCCCGTACCCGAGAACTTGGCACTGCAATTGGTCTCATCACTGCCGTCAGCACAGTTGGCAAAACCATCACACACTGAGTCAGGTAGCAGGCAGATGAGCTGGTCACAGCGGAACTCATCATGGGCACAGCTCCCTGGATGTGGGCACCAGGAGTCAGGGAGGCCCGGAGTCTCCACCCCTTTGACAGGACTGGGAGTGGGTGGAGGGGAAGAAAGTGGACACTCAACAGGCAGGTGGGAACACACTCACCGCGCCCAGGGGCCATAGCCTGGTACCAGGCATGGAAACCAAATCCTTCCACACTGCTGTCAGAGACGAAGACCACCAGGAGGTGGCTGGCATTGGTGTTGAGCGTGGGGGGAGGCACCCTTCCACAAACCCTGCAAGAAGCCAGGTTGGGGGTGAGGGAGGCTCCAAGAGCAGGGTCAGCCAGAGAGGAGCTTGCCTGGGCCTTGCAGTCCTATTTTCTCAACCCCCAAACTGGTGACCATGTGGTCAAAAAGGCTCCTCTGATGTCCCAGGGAGCTCTGACCTTCCTAGCACCTGCACATTTATCCTTGTAGCATCTACTCATGGGGAGATAGGCAGGAGATCCATGTTACAGACTAGGAAACAGGTGAGAGAGGGGAAGTGATCTTCCTCACGGCACACAGCAAGGTGGTGGCAGAGCTGGGCCCAGAGGTCTAGTCTCTCAATTTCTTCCTCGGTTAGCCCTTCTCCCTGCCACTCCCTGATTCTGCTCTTTAGATAGTGGTTCAGGACACGGTGGGATGTCCTGGGGACAGAGGGACCTACCTGAGGAGGGGGCCTTCAGGCTCAGGGGAGAGTTCCAAGCGATCAAAAAGGCAAGAGGCCACACTCTCTATGCTGAGGGCTTCGATCTTGAGCTGTATTGCATGGTCTGTGGCCACCTGGATATGCCACACGCAGTGGGTGTTGGGGGGGTAAGGGTCTGGGTAGTTAGGGCTGCTGAAGAAGCCCCTTGGGCCAGAGAGGAGGCCTCCACAGGCTGCAGAGATGGAGGTTAGAGTTCAGAGGTCAAAAGGAGTGAGGTCCTTTATTCTCAAGGTGCCTCTTCCTCACCCTCCCCTCAACCCCACCCCGTCATCTTGGGCCCTTCTCCCGGAAGATCTGCCCCCAGTACTCACTGGACTGTGGGGAGGGGCTCACGCCTGACTCCTGCTGCCCTTTAGGGGTCCCAGCTGCCTGAGAGGTGGTGATGGTGGGGGTGGTGGTGGTCGTGGTAAGGCCTCCGGCAGGCAGTGGGCTATGGGACGCCCCAGATGGGGGTGCAGCCTGCAGCTCTGGAGGCGAGAAGATGGAGGGTGGCGTTCAGAGGAGCTGGGTCCTGGGAGGCTGGGAGAGCGGCTCATGGAGTTTCATTCCAAAGCCCTCGTTTCAAGCTGTCCCCGGGTACTTACGGGCCAGGATGATGGCCACCAGCAGCCCAAGCAGCAGGAGGAGCAGGCTGGAGAGCAGGAGGACACAGAGCCAGGAGAAGCGGCAGTCTGGCCGTAGCCCTCGAGGACGCCGACCTGCGGGTTGGCAGGTGGGGTTTTGAAAGCCCCTTCTGTTGGGTATTCCTCATGCTGTCCTTGGCTCCTGGGCCTCTCTGTCCTCCCCCAGGTCACCCCCTGGGATGGTTACCATGCCAGGGAGCTGGGACGCTGTAGCTGGCATCCTCTGGGAAAACTGGGGGAGGGCAGGGTGGCCCAGACTCAGGCTCGAAGGCAGGATTGCAGAACTCGGTCTGGAAGGGGGAGATACTACTTGAGGGCTGAGGGCAGCAGTGACCACTGGTGCTGGGTCTTAGGAGCACGATTCTATGTGGTCCTTACCTTGCTCGATTCTGTTGCCTCCATGCAGAGGATGACATCTGAGAAGTCCTTCATGGCACAAGGCTCTGCATGGCTTTCTGGAGTCCCTGTGACAGCCCAAGACCCCCAAGGGCCCACTCGCTGACCACAAACTCCCTGTCAGAGGGGCAGCCTCTACTACCCGAGGGAAAAGGCTGCCAGGCTAGACCAGTTCTTGGGCTGTCCTTGGTAGAGTGGTTTGGCCTATGGGCTACTCTGTCTCTGTGTGGGGGAAGGGATGGCAGCCAGGAGGAATTCACAAAGGCACGAAATGGTCCCTTAATCCAACTCAGCTGAGGATGCTGAGGTCAAGCCCCTGGCACAGGGTGGCAGTTCTTAAAGGCACAGGCGGTGGCTGAGAACACCCAGCAGAGGAAACTAGGTGCTCTGTGCGGGGATGTGACGAGGGGAGCTCTCCACCCCATCACCCAAGGCACTGAGTGAGCACTTAGGGGGTCGCTGGGAGGGGAGAGAAGTTGCAGGCAGAAGGGAGCCTTAGGTGGTCTGAGAAAGAAGCAGGGTGTAGGGGGTGGACAAAGCCAGCTGCCCACCTTTCCTCCCCACCAGGGTGACAGGGGTATTGGCCAGGCCGGGTCTTTGGAAGGCCCCTGGTAGATCACCGGTGTGACCAGGACAAGAGAGAAGAACATGGCATGAGCAGGGGGACTGGCTGCTCATTCCTGGGACCCCTAAGCCCGCAGGAGAAAGGACAGGGAAGGGGGAGAAGGTGCCCAGGTCTTGGGGAGGGTTGGGGTGTGGAGTCTAGCCACTGGGGCTGTTGCACAGTAGGAAACCTACACCCTGCAAACAAGATTACTTCATGCCTGTTTCTCCATGGGCGAAGTCCTCTTGGAAAATCCCAGCCTAGCCCTGCTGTCCTCAGGGAGAAAGGAAAGGGATTGGTAATCTGTTTTGTGTTAGCCATGCTTAGGCTGAGAGTTTGGCAGGGAGGGAAGTGGGGAGAGAGCCTCATATTTCTGGCTACTATTTGTAGAATGTCTGGGCAAGAGGGCTACATGCAGTTTCTCTCCTTTCATAACTATGAGGTAGCGTCACCATTTTACAAATGCTGGTGCTGGCCTCTGAGAGGTTATGTCACTTTCCCAAGGTCACACAGCTGGTAAGATACAGAGATGAGAGTTGAGCCTAGGAATGGATAGATCTTAGGCTCACGTTTTCTATGATGTACCTCTTTCACCCCACATTGGGGCTGAGGCATGCTGGGGGAGCAGAGGGATCAGAGTGACATGGGGGCAGAGTGAGGAACCCCTTGGGGATGGAAGCAAAGAGGACAGGCTGCCCTCCTTGCACTCAGGAAAGGAGATGCCTCCACCCACAAGTTTTTCTCCATTCGTCCCTGGAGGGTCTTAGTTTGCTTTTGTCTAGGGGGTCAAGCTGTTTCCTAGACCCTTGGAAGTCTAATGGTACATGGTCTTTAGGGAAGAGACTTTTTGGGAGCTGTAGGGACAGGTGCTCTTGGAGAGGATCAGACAGTCCCTGACCACAAAGTACTTCTCATTCTGGGTGGATCAAGACAGAGCAGGATTCCTGCCACACTGTGTGTTAAGAGCCTGGCCACAGGGGCAGCTTCCTGGACAGAGTGGCCCTGCGCTGAGCTTTGAGAATGATGAGCTGGGAGAGCCACGCCCTTGGGTCTGCTCCTCTGAAGCTGCTCGTTCGCTGTGATCATTGAGAGAGAGGTTGCTGTGCCGGGGTCTGGCCAGGCACTGGGCTCATGGAGCCGACTGAGACAAGGTGCCCTCGTCTCAAGGAGCCCCTGCTCTGCTGTGACAGTTCTCAAAGTGGGGCCCGGGGCCTTTTTTTAGAGGACTTGAGAGCTTAGAACTAGGCTCATAATAACACTAAGACATGATGTGCCTTTTTCACACTCATTCATGTTTTCCAGACGCTCCGTGACATGTGATATGACATTGGGGTGAATGCTGAAGGAGACG | benign | 189,416 |
Clinical classification of chromosome 11, position 121105867, gene TECTA: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_12', 'Autosomal_recessive_nonsyndromic_hearing_loss_21'] | ATATTAGATATTCTTAATGTTTGTATCCTTCTTAAAATTAAAAATATTTAACAGTCCGTTCTTTCCTATTCAAAATTGTGAACTAATTAGGATCACCCACGAAGAGAAGAATCTTGCAAACTGCCTCACCTTTGCAGCAGAAGAGGAAGTTAGGGTCATTCTCCCTGGCCATGGTTTTCCGTCTCCTCCATGCGGTATTATGGGTTTTCCATTCCCTAGGCAGATTGGCCAATCAGTGCAGCCCAAAATACCAATTAATCTTTCCATACAGATGATGATAATTCAGTGTGAATTTGAGCCCTCATTCATACTTGGGCATGACTCCTAAAAAGTTCCCCATGAAGGATAAATCCATGCCAGGACATAATTTGTTACTGTTAACTTCAGAAATAAGTACCTGTGTATAATACTGTAGTAGAGATTATAAAGATTTTTTTTAATTAGTACTTCCAGGAATTTTTAATTTGTTACTATTATGTAAATAGAAATGTTAGAAGACCCCTTTTCACCTGCTGGTTGTGACATTAAATACAGCTCATGGGCCCAGAGTGCCTATGACCCGACACAGCGCCTCCTACAGCCTCAAATTCGGGCTGCTTCTCAGCAACTTCTGGGGTTTGGACGATGCATATACACGAATGACCAGATTAGTTTTGCTGCTCTCCTTGGATGTCAGCCCCTGGAAAGAAATTAGCCCTCCGTTGAGGCATAACTCCTCTTGCTCCCTGCTTCAGAACTGGAGAGCTGGCTCTTGGCCTGGTGCAACAGGCCTGCTTTCTGGCCGCTTTGCACTCCTCTCTTTTACATGAGCTGTTGTCTGTTCACCAAAAGCCTCCCAAAGGAGCAAAGACAGTCCTTGGCCGGTTGCTCCCCAGCCTATTGCTTCCATCAGCACAGAGCAGGGACTTTCCCAAGTAGAAGGCCCGACATGAGAATGGGGGTGTCGGCATCTCATAGCAGCAAGCAGGTACCTCAAGAAGTGTGGCCGATGCCCAGCATGGTCTTGCCCCTGCCCCCGAGAATGAGAAATTTAAAGAAAGGAAAAAAGGGAGAAAACGATAGTGTCCTATTGTCTTATATTCATTCAGGAGAAGAAAGGACAGAGGCAAAGAAAAGTAACACCCAAAATGTAGATTATTTCACAGATGCTATTGGACTTGATCCTCAGTGATGCAGACCCTAGGGAACTTGTCTCATTTCTCCCACAAAACTGAGCCACATCTTGCAACAGTATGGACGGGAAACCTGGGAGCAGCAAGCCAGGAGAGGAGGTGACCCTGTCACAGCGGGATGCAGTGTGTGTTTGTGTGATGGCTCTCCAGTGACCAGGAGGACCAATCAGAGCCCTGCAATTCATTCTCTCCAAAGAGTTCTCAAGGACCCAACCCTCTGACCCCGGAGGATCTCATGTCTGTCTTTTGTAAAAAAGGAGTTGGGCAAAGAGCCTCTTGCAGGGCCGCCCTCAATCAAGGTCATTCATGGGCCAATTGCTACAAATCCTCTCCTCCCACTTTTGTCTCAGTTCCCACTGTTGTTTATTTCCTTCTGGGATCTGGGATTTTCTCCAATTGTGCAGCAAGAGGGAGGGAACTCCTTTCAGGAAAACACACGATAGTGGAATTCTTGAGCTAGAACAGGAGCTTCAAAACTGTGGCCATGCCAGACCTAGAGGCTGCCTCTCAGTATCCAGAAAGCTCAAGGTTTCCAGGGAAATTTCACAAATTTCCAGCCAGCTGTAGCCATAGATATCACCAAGATGCATGAAAGTGCAAGAACATGCACAAAGTGCTTTCTCCTATGGAGAAACAATGTCACTCCCATTTTCCCGTTTCCCAGAGCAGAAGATACTGCGCTGTGTATGGCCTAGGTTTAGGATGAATGACAGGGCAGTATGACTTGCATTCAGCTTGCAAGCCCTACTGAAAGAAGCTGGCTTCAGTAGGTAGGAGAGATGTAGATTGCCAAACGGCAGAGGGAGCTGCCATCTATCTAACCATCATCTCTCTTGACAGCTCAGCCCAGGGAGCTCATGTATCCATTTTGGCAGAATGACACCAAAACCCCTAAAGTAGATGATGGAAGCTCATCTGAGATTAAGTTGGCCATCCCAGTTTTCTTCTTTGGCGTTCCTTACCGCACTGTCTATGTAAGTGGAGAAGCAGCCCATCTGTTGTTCTCTGGCCCTCCCTTTTGTTTGTCATTAAGAAAAGCATTTTAAGTATCCTCTTCCAGAGCTCTGGGAAGGGAGGATTTATTGGCAGCCAAAACGACAAGTTCTGAGATTTCATGAGCTGATAGGTTTTATGAATAAGAAAGTCAAAGGTATATTTAATGGCTAATGTTCATAGTGGAGGAGTATACAGGGCAATAAATTGCTTTTGTCAGTGATTAAACATAGAAGTGAAGCAGAAGCCCCAATGCCATGAATGTTATTTCTGCTACTCAACGAGATAAAAAGATACAATGAACCACAGTAGGAGCAATATCATTTTTCTTTCCCTTCTGGGGGTGTGAAAAGTTTAGGCATCTGCTGTTCTTGGGCTTCCTACCAATTTGAAGCAGAGTCGGAACACAGTAGGGGGGTAATCAACTATTATATCAAAGTTGTTTGCAGAATTGGCCACCCTCAATATGGGTCTGTAGATAGGCCAGAGGGTCTCATCGCCCAACCCACACTAAGAAATGGTCCCATTTGTGATCAGAGCTCTCCTAGGCACCTGTGTTCTCAGGTTTTTGTTTTTGGTTTTTTGGATCATTGGGTTTGCTGCTAGCGAAACTGTGGCACATGAAGAGGAAGATTCAGAGCAGCCGAGCCTGGCTTTATTGTTGGCCTTAAAGAACTGGGTGAGGGATTATACCACACCCCTGGAGGAAGAATGCAACCCTAAGCATGTCCACCTCTGGCCATCTCTACGTCTGGGACCTCTCTCTTCCCCAACTTTTGATTTATGGCTCCGGGATGATTCCCGCTAGAAAAGAGTTCACTATTCCATTACCTAACGGTGGTCCCTGAACCTGCAGAAGCAGCGTCACACAGGCACTCATTAGCAATGTCATTTCTCAGGTCCCACCCCACACCTACTGAGTCAGAAACTCTGGGAGGAGGAGCCAGTAATCTGTGTTTTAATGAGTCCTCCAAGTGGTTCTGATGCCCACAAAAGTTTGAGAACCACTGATCTCAACCATAGGATATAATCAAGACACACGTGAGTCATCACCAGCTTCCTCTGCCAGTCTGTGTGTTTTAATTACACCTGTTGTTCCCTAGCAAACACTTCATTCTGACATCCTGAAACGCCTTTTATACTCTATTCACGGCAGGGCCTCCCTAGTCTGTCTTTGTAATAGCTGGTTTTAAGTTTTGGGTTGTGTTGACCTGATTTTGGCAATAAGGCAGTGAGGACTTCCGTGCTGGAAGCCCAGTTAAGCTAGTTTTTCTTCTCTATTGCACTGTGTGATATGGAGTCTGAAGAATTTTTTCTTGCCCTTGCAACAGGAGGTTCCTTAGCTTGAGGCAGATTTATTTGAGGGTAAATTGTTCCTTGCGTTTCCAACACTTTGAGTAGTGCAGTTTTCTTCAAGCCTCTAGGATGTTCCCAATTACTGGAAGACAATAGGCTCTTAATGTCTCTTCCAAACCCAAAGCCTTGCTTCCAAACACGTAGACCTACCCTTGGTCCAGGCCTTGATAACTTGCCTCTGGGATCTGGGCCACTGTTAATGTCCATAATGTTACTGGTTAACAGAAACTTAACATATGATTGGAATGTATAGGAAAATTATCTCCAGGTTTTCTATATCCAAGAATTGCAGTTCCCATTACAGGTACCTCTGCTGCTGAAGCCGTGTCAGCCACAGGGTTAAATCAGTTTATCTACCAACGTACAGAGCTGCAGATTCACGCAGAGGCTGAATTGTTTACAGGTCCCTTGTAAACTGAGGGTATATCTTGGCTTGTGATTTCCAGTAAGGTTTCCTATTTAATTGGTTTACTAAGCCATTTACAAATCATGAAGAAATCACCATAAGATAGTCATTTACATAAACAGTGTAAAGTAGTCATGCCTCCATTTTTATGCAGCGATTGTACCAGGAC | ATATTAGATATTCTTAATGTTTGTATCCTTCTTAAAATTAAAAATATTTAACAGTCCGTTCTTTCCTATTCAAAATTGTGAACTAATTAGGATCACCCACGAAGAGAAGAATCTTGCAAACTGCCTCACCTTTGCAGCAGAAGAGGAAGTTAGGGTCATTCTCCCTGGCCATGGTTTTCCGTCTCCTCCATGCGGTATTATGGGTTTTCCATTCCCTAGGCAGATTGGCCAATCAGTGCAGCCCAAAATACCAATTAATCTTTCCATACAGATGATGATAATTCAGTGTGAATTTGAGCCCTCATTCATACTTGGGCATGACTCCTAAAAAGTTCCCCATGAAGGATAAATCCATGCCAGGACATAATTTGTTACTGTTAACTTCAGAAATAAGTACCTGTGTATAATACTGTAGTAGAGATTATAAAGATTTTTTTTAATTAGTACTTCCAGGAATTTTTAATTTGTTACTATTATGTAAATAGAAATGTTAGAAGACCCCTTTTCACCTGCTGGTTGTGACATTAAATACAGCTCATGGGCCCAGAGTGCCTATGACCCGACACAGCGCCTCCTACAGCCTCAAATTCGGGCTGCTTCTCAGCAACTTCTGGGGTTTGGACGATGCATATACACGAATGACCAGATTAGTTTTGCTGCTCTCCTTGGATGTCAGCCCCTGGAAAGAAATTAGCCCTCCGTTGAGGCATAACTCCTCTTGCTCCCTGCTTCAGAACTGGAGAGCTGGCTCTTGGCCTGGTGCAACAGGCCTGCTTTCTGGCCGCTTTGCACTCCTCTCTTTTACATGAGCTGTTGTCTGTTCACCAAAAGCCTCCCAAAGGAGCAAAGACAGTCCTTGGCCGGTTGCTCCCCAGCCTATTGCTTCCATCAGCACAGAGCAGGGACTTTCCCAAGTAGAAGGCCCGACATGAGAATGGGGGTGTCGGCATCTCATAGCAGCAAGCAGGTACCTCAAGAAGTGTGGCCGATGCCCAGCATGGTCTTGCCCCTGCCCCCGAGAATGAGAAATTTAAAGAAAGGAAAAAAGGGAGAAAACGATAGTGTCCTATTGTCTTATATTCATTCAGGAGAAGAAAGGACAGAGGCAAAGAAAAGTAACACCCAAAATGTAGATTATTTCACAGATGCTATTGGACTTGATCCTCAGTGATGCAGACCCTAGGGAACTTGTCTCATTTCTCCCACAAAACTGAGCCACATCTTGCAACAGTATGGACGGGAAACCTGGGAGCAGCAAGCCAGGAGAGGAGGTGACCCTGTCACAGCGGGATGCAGTGTGTGTTTGTGTGATGGCTCTCCAGTGACCAGGAGGACCAATCAGAGCCCTGCAATTCATTCTCTCCAAAGAGTTCTCAAGGACCCAACCCTCTGACCCCGGAGGATCTCATGTCTGTCTTTTGTAAAAAAGGAGTTGGGCAAAGAGCCTCTTGCAGGGCCGCCCTCAATCAAGGTCATTCATGGGCCAATTGCTACAAATCCTCTCCTCCCACTTTTGTCTCAGTTCCCACTGTTGTTTATTTCCTTCTGGGATCTGGGATTTTCTCCAATTGTGCAGCAAGAGGGAGGGAACTCCTTTCAGGAAAACACACGATAGTGGAATTCTTGAGCTAGAACAGGAGCTTCAAAACTGTGGCCATGCCAGACCTAGAGGCTGCCTCTCAGTATCCAGAAAGCTCAAGGTTTCCAGGGAAATTTCACAAATTTCCAGCCAGCTGTAGCCATAGATATCACCAAGATGCATGAAAGTGCAAGAACATGCACAAAGTGCTTTCTCCTATGGAGAAACAATGTCACTCCCATTTTCCCGTTTCCCAGAGCAGAAGATACTGCGCTGTGTATGGCCTAGGTTTAGGATGAATGACAGGGCAGTATGACTTGCATTCAGCTTGCAAGCCCTACTGAAAGAAGCTGGCTTCAGTAGGTAGGAGAGATGTAGATTGCCAAACGGCAGAGGGAGCTGCCATCTATCTAACCATCATCTCTCTTGACAGCTCAGCCCAGGGAGCTCATGTATCCATTTTGGCAGAAGACACCAAAACCCCTAAAGTAGATGATGGAAGCTCATCTGAGATTAAGTTGGCCATCCCAGTTTTCTTCTTTGGCGTTCCTTACCGCACTGTCTATGTAAGTGGAGAAGCAGCCCATCTGTTGTTCTCTGGCCCTCCCTTTTGTTTGTCATTAAGAAAAGCATTTTAAGTATCCTCTTCCAGAGCTCTGGGAAGGGAGGATTTATTGGCAGCCAAAACGACAAGTTCTGAGATTTCATGAGCTGATAGGTTTTATGAATAAGAAAGTCAAAGGTATATTTAATGGCTAATGTTCATAGTGGAGGAGTATACAGGGCAATAAATTGCTTTTGTCAGTGATTAAACATAGAAGTGAAGCAGAAGCCCCAATGCCATGAATGTTATTTCTGCTACTCAACGAGATAAAAAGATACAATGAACCACAGTAGGAGCAATATCATTTTTCTTTCCCTTCTGGGGGTGTGAAAAGTTTAGGCATCTGCTGTTCTTGGGCTTCCTACCAATTTGAAGCAGAGTCGGAACACAGTAGGGGGGTAATCAACTATTATATCAAAGTTGTTTGCAGAATTGGCCACCCTCAATATGGGTCTGTAGATAGGCCAGAGGGTCTCATCGCCCAACCCACACTAAGAAATGGTCCCATTTGTGATCAGAGCTCTCCTAGGCACCTGTGTTCTCAGGTTTTTGTTTTTGGTTTTTTGGATCATTGGGTTTGCTGCTAGCGAAACTGTGGCACATGAAGAGGAAGATTCAGAGCAGCCGAGCCTGGCTTTATTGTTGGCCTTAAAGAACTGGGTGAGGGATTATACCACACCCCTGGAGGAAGAATGCAACCCTAAGCATGTCCACCTCTGGCCATCTCTACGTCTGGGACCTCTCTCTTCCCCAACTTTTGATTTATGGCTCCGGGATGATTCCCGCTAGAAAAGAGTTCACTATTCCATTACCTAACGGTGGTCCCTGAACCTGCAGAAGCAGCGTCACACAGGCACTCATTAGCAATGTCATTTCTCAGGTCCCACCCCACACCTACTGAGTCAGAAACTCTGGGAGGAGGAGCCAGTAATCTGTGTTTTAATGAGTCCTCCAAGTGGTTCTGATGCCCACAAAAGTTTGAGAACCACTGATCTCAACCATAGGATATAATCAAGACACACGTGAGTCATCACCAGCTTCCTCTGCCAGTCTGTGTGTTTTAATTACACCTGTTGTTCCCTAGCAAACACTTCATTCTGACATCCTGAAACGCCTTTTATACTCTATTCACGGCAGGGCCTCCCTAGTCTGTCTTTGTAATAGCTGGTTTTAAGTTTTGGGTTGTGTTGACCTGATTTTGGCAATAAGGCAGTGAGGACTTCCGTGCTGGAAGCCCAGTTAAGCTAGTTTTTCTTCTCTATTGCACTGTGTGATATGGAGTCTGAAGAATTTTTTCTTGCCCTTGCAACAGGAGGTTCCTTAGCTTGAGGCAGATTTATTTGAGGGTAAATTGTTCCTTGCGTTTCCAACACTTTGAGTAGTGCAGTTTTCTTCAAGCCTCTAGGATGTTCCCAATTACTGGAAGACAATAGGCTCTTAATGTCTCTTCCAAACCCAAAGCCTTGCTTCCAAACACGTAGACCTACCCTTGGTCCAGGCCTTGATAACTTGCCTCTGGGATCTGGGCCACTGTTAATGTCCATAATGTTACTGGTTAACAGAAACTTAACATATGATTGGAATGTATAGGAAAATTATCTCCAGGTTTTCTATATCCAAGAATTGCAGTTCCCATTACAGGTACCTCTGCTGCTGAAGCCGTGTCAGCCACAGGGTTAAATCAGTTTATCTACCAACGTACAGAGCTGCAGATTCACGCAGAGGCTGAATTGTTTACAGGTCCCTTGTAAACTGAGGGTATATCTTGGCTTGTGATTTCCAGTAAGGTTTCCTATTTAATTGGTTTACTAAGCCATTTACAAATCATGAAGAAATCACCATAAGATAGTCATTTACATAAACAGTGTAAAGTAGTCATGCCTCCATTTTTATGCAGCGATTGTACCAGGACN | pathogenic | 189,452 |
Does the chromosome 11 mutation at position 121113180 within gene TECTA classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic | GAAGGAAAACTAATATTTACTGAGGGTTTACTATGTGTCTGGTGCTGAAGGCTATTTTTGCATATCATTTAACCCTCCCCAAAATGTTCCCGGACAAGTACTGTCTCCAATTTCAAGGGAAGGGAACAGGCCGGGAGAGGCCAAGTATCTCGTTCAAGTGGCAAGAAAAAGAATAGGATTCAAATCTCCTAGGAGACAGAGCAGGGTTCAAACCAAAGTCTTCCAACTCCAAATCCCAGACTCTTCTTTCTTCAGCTGCCTCCTGCGGGTATTGCTGAAGTCCTCAGAAGCAAAAAAGATTTTTTTATCCAGAAGAGTCTTGGAATGAACGTTGAAGAATTCTGTAGTGTGAGAATGTGTAAGAGTGAGCTGAGGTGCGTGCGGGTGGCAGTCAGCCTCTGGGGTGTCACTGGTATGGCTGGTTGGTTTAGAGGTGACTTCAGGGGTTGGAAATGGATTGCTCTTGAGATCTGCTTGGACCAAAGATATTTCCAGCTTCACTGTGGGAGAAGGAATTCCCTTCTGAAGGAGAATCTTGGTCTGAAGGAGGCTCTAGCTTTAGTCCTTGTGTGACTTTGACTTTGCCCCTGTCCCTTGAACAAGAGCCTGCTGGTGACCTTACAGCAATCTTGAGCCTACTGCTCACTCATCTCTGTGTCCCACTGTCCTCTTCTGTTGAATGGGGCCAGAGACTGAAGGCGTTTACCTGAGCAAGTCTATCACAAACGCCATCAGCCGTGGCCAGCACAGAGCATGGGAAGAAAAGTTCTTTACAAAAAGGGCTGTTCTTACTCATAGCTTGCCTCCCTTTCTGGGATCATCTAGAATGGGGAGATTTGGGGCTTCCAAGATCCTCTACCCCAGTTTGATTACACAGGATAAGGATTTGTGTCTTCCTCTGCATCAGACAGAGTGTCAGGCAGCTGGGAAAAGTGCTAGGTTTGAATAGAAAAAGGTCAATGCAGCCTCTCCTTTTAACTCTATTTCTATTAAATTTTTTGAAAACATGTGACAAGGGGTGAGGATTAGCAAGAGGAAAATATAAAGGACAGGGTTTGCTACAGCTTATTTCTGAAAACCATTTACAAGTTTCATATGAATTTAAGCAACATCTCTATCCTAAAAAGTTTAAAATGAAGACAGCATGGAATGGCAGTGCTCTGAGAGATGGACTGGGAACTCTGGCGCAAATCTCGTTTTCTGTTGCTGGGTCACTGTGAAATTTCTAGTAACTCATTTCCCGCAGTCCCTAGTTTTCTTAACTATAAGATAGGCGTGGGCCAATACGATCACCCGTCTTAGCGTTGGTCTGGGGTACAGATGAATGTTAACGATTTTCAGAAATAAAGTGATGCACAAATGCTCAATTAGAGGAGTAACTTCTCCCCAGAAAGTGCTTTTTAAAAATCACTTTCCCACTTCCATTTTTAAAAGGGGAGACATCTCATCAAGATTAATGTTGTTTTCCGGGAAGAGAGAGAGCGCAATCCGCATGGCCACTTTAATCACACGGACTGGTATCTGCTCCCTCTTCCAACCCGCTCTGCAAGGGGAACCGGTGGTTGCATCCTGGTCCCCGGCCGAGTCTTTCCTGTAGTTTATTCTCATGCTGCCATCTATAGGTGCTTTCATATTATCACACGCTTAGCCGGGCCTCTGAATTTTCTGTCTGGTAGAAGTCAGAGATATAAGTGGGCGCTGAGTCAGACTCTGGGTTTATCTCAGGCAATTTCTCTTTTAGAAGCACAGTCCCACATGTCTTGCTTTTCCCAACGGAGGCGAGAACAAATTCAGAGAGGAGTCAGAGCTGGAGGGCCTGGCTGCAGAGCAGCTCTGAGCTGCCTGTGGGTGGGGAGGGCGCAGGGTGAAGGGAGGACCTCCTTGGGGCCAGGACCTCCTGGGGAGTGCAAGTCATGAGACTGCGCATTCCCATCCTGTAGGTGAACACCTTCCAGGCCGTCCTAGTGTCCGATGGCTCCTATACATTCACCCTCTTCAATTATTACGAAATCAACTGGACCACGGGGACGGCGAGTGGCGGCGACCCCCTGACAGGTCTTGGTGGAGTGATGGCACAGGTAGGTGGCTCTCCACTTCATCCCCCGCGTGTTTCCGTCGCTGCACTCTCTGCTTCTGTGGCTCAGCATCCTGGAGGGAATCCTGCCACCAGCTTTTAACTAGAGACGCAGGTCTGATCTCGCAGGTGGACTACGAGGCTAGTCCTGCCCATGTTTGGCACCCTGACTCGGCTATGAAATGAACTAGGCAGTCCTTTCTCACCTAGAATGCTGGCCCCAGTGACTCCAGGAAAAGACGGCTCTTGATTTTAGAGGTGCTGGATTTTAAAAATAAGGTAGTTGGGCCAGTTAACCCATGGGGAATTTTTGTACTCAAAAATCTTGTCTTCCTTTTGTGCTGCAGGCAGGATTTAATGGTGGAAACCTCACCAATTTCTTCAGCCTCCCGGGGTCAAGAACCCCCGAGATCGTGAATATCCAGGAGACCACAAACGTCAATGTTCCAGGCCGCTGGGCATTTAAAGTTGATGGAAAGGAAATTGACCCAGCCAATGGCTGCACCTCAAGGGGTAAAGCTTTTCCTCTGTCTGTGGCAAGGCAGGGTTTGTTTAGTGTAGATTGACAGGCAAGCTTTTAAGCCACGGGGGCGGACTCATTCCTGATGCCTTACTCTTTTGACATCTCTCCGCTGGGTAATGGAGATCAAGGTAATTTTAGCATGTGCATTCATCACATCAGAAGCTAAAACACTGCATTCACTACCTTGTGGCTTTGGAAGTCCTTTTCTGGAGTGTGCACACAGTTATCCGTTCTGAACAACTCCGAAATGGACCAAGATCTTGAGTGATTTCTGAGCCAGAGGGACAGAAGGCAGCCCTCCTGTTTAACATTATTTTTGTTGTTGTTGTTGCCATTTCCTCCCCCCGCCCTTTATGTTTTTCTTCTCATCCTTATTCTCGCTCTGTCTTCTGCACTTTGTAGATCTACAGGAATGGGTGCAGTTGGAGTATTGCCAAGTTCCTATGAGGGTAAATCAGTACTTCCTAGTATGATTAGAAAAAAAAGAAACAAAAGTTCTCCTAAAATCTTCCCAGCATCAGCAAAACGTGCAGGAATTTGAGGAGAATCAAAGCTGACTTTGGGTATCTGTGAGTAAGCTGTAGTTGAACCTGGGTGGATGTCCTTCACATTGGGCACCCAAAGTTTGGAGCCTTTTCTGAACTATCGAACCCCTTTAGATGTGCAAACTCACCATGGACTTTCAGAGAAACATCCTGGTTTATGAATTCCTGCTTTTTTGTGTCCAAAAATATTTAGAAAACAGAATTTCTGATAATATTTCTACTTCCAGGAGTAGAAGCTACAGAAATTAGAAGAAGGAAATAATGCCTCTGTTCATTAGTCCATCCACCCACCCATCTATCCAGCTACCCACCCACCCACCCACCCATCCACCCACCCATCCATCCACCTACCCACCCACCCATCCACCCACCCATCCATCCACCTACCCACCCACCCATCCACCCACCCATCCATCCACCTAGCCACCCACCCATTCACCCACCCATCCATTTATCCATCCACCCATTCACCCACCCATCCATCCACCTACCCACCCACCCATTCACTCACCCATCCACCTACCCACCCACCCATCCACCCACCCATCCATCCACCTACCCACCCACCCATTCACCCACCCATCTATTTATCCATCTACCCATTCACCCACTCATCCACCTACCCATCCATCCATTCATCCGTCCACCCATTCACCAACCTATCCATCCACCTACCCACCCACCCATTCACCCACCCATCCATTTATCCATCCACCCATTCACCCACTCATCCACCTACCCATCCATCCATTCATCCGTCCACCCATTCACCAACCTATCCATCCACCTACCCACCCACCCATTCACCCACCCATCCATTTATCCATCCACCCATTCACCCACTCATCCACCTACCCATCCATCCATTTATCCATCCACCCATTCACCCACCCATCCATCCACCTACCCACCCACCCATTCACCCATCCATCCATTTATCCATCCACCCATTCA | GAAGGAAAACTAATATTTACTGAGGGTTTACTATGTGTCTGGTGCTGAAGGCTATTTTTGCATATCATTTAACCCTCCCCAAAATGTTCCCGGACAAGTACTGTCTCCAATTTCAAGGGAAGGGAACAGGCCGGGAGAGGCCAAGTATCTCGTTCAAGTGGCAAGAAAAAGAATAGGATTCAAATCTCCTAGGAGACAGAGCAGGGTTCAAACCAAAGTCTTCCAACTCCAAATCCCAGACTCTTCTTTCTTCAGCTGCCTCCTGCGGGTATTGCTGAAGTCCTCAGAAGCAAAAAAGATTTTTTTATCCAGAAGAGTCTTGGAATGAACGTTGAAGAATTCTGTAGTGTGAGAATGTGTAAGAGTGAGCTGAGGTGCGTGCGGGTGGCAGTCAGCCTCTGGGGTGTCACTGGTATGGCTGGTTGGTTTAGAGGTGACTTCAGGGGTTGGAAATGGATTGCTCTTGAGATCTGCTTGGACCAAAGATATTTCCAGCTTCACTGTGGGAGAAGGAATTCCCTTCTGAAGGAGAATCTTGGTCTGAAGGAGGCTCTAGCTTTAGTCCTTGTGTGACTTTGACTTTGCCCCTGTCCCTTGAACAAGAGCCTGCTGGTGACCTTACAGCAATCTTGAGCCTACTGCTCACTCATCTCTGTGTCCCACTGTCCTCTTCTGTTGAATGGGGCCAGAGACTGAAGGCGTTTACCTGAGCAAGTCTATCACAAACGCCATCAGCCGTGGCCAGCACAGAGCATGGGAAGAAAAGTTCTTTACAAAAAGGGCTGTTCTTACTCATAGCTTGCCTCCCTTTCTGGGATCATCTAGAATGGGGAGATTTGGGGCTTCCAAGATCCTCTACCCCAGTTTGATTACACAGGATAAGGATTTGTGTCTTCCTCTGCATCAGACAGAGTGTCAGGCAGCTGGGAAAAGTGCTAGGTTTGAATAGAAAAAGGTCAATGCAGCCTCTCCTTTTAACTCTATTTCTATTAAATTTTTTGAAAACATGTGACAAGGGGTGAGGATTAGCAAGAGGAAAATATAAAGGACAGGGTTTGCTACAGCTTATTTCTGAAAACCATTTACAAGTTTCATATGAATTTAAGCAACATCTCTATCCTAAAAAGTTTAAAATGAAGACAGCATGGAATGGCAGTGCTCTGAGAGATGGACTGGGAACTCTGGCGCAAATCTCGTTTTCTGTTGCTGGGTCACTGTGAAATTTCTAGTAACTCATTTCCCGCAGTCCCTAGTTTTCTTAACTATAAGATAGGCGTGGGCCAATACGATCACCCGTCTTAGCGTTGGTCTGGGGTACAGATGAATGTTAACGATTTTCAGAAATAAAGTGATGCACAAATGCTCAATTAGAGGAGTAACTTCTCCCCAGAAAGTGCTTTTTAAAAATCACTTTCCCACTTCCATTTTTAAAAGGGGAGACATCTCATCAAGATTAATGTTGTTTTCCGGGAAGAGAGAGAGCGCAATCCGCATGGCCACTTTAATCACACGGACTGGTATCTGCTCCCTCTTCCAACCCGCTCTGCAAGGGGAACCGGTGGTTGCATCCTGGTCCCCGGCCGAGTCTTTCCTGTAGTTTATTCTCATGCTGCCATCTATAGGTGCTTTCATATTATCACACGCTTAGCCGGGCCTCTGAATTTTCTGTCTGGTAGAAGTCAGAGATATAAGTGGGCGCTGAGTCAGACTCTGGGTTTATCTCAGGCAATTTCTCTTTTAGAAGCACAGTCCCACATGTCTTGCTTTTCCCAACGGAGGCGAGAACAAATTCAGAGAGGAGTCAGAGCTGGAGGGCCTGGCTGCAGAGCAGCTCTGAGCTGCCTGTGGGTGGGGAGGGCGCAGGGTGAAGGGAGGACCTCCTTGGGGCCAGGACCTCCTGGGGAGTGCAAGTCATGAGACTGCGCATTCCCATCCTGTAGGTGAACACCTTCCAGGCCGTCCTAGTGTCCGATGGCTCCTATACATTCACCCTCTTCAATTATTACGAAATCAACTGGACCACGGGGACGGCGAGTGGCGGCGACCCCCGACAGGTCTTGGTGGAGTGATGGCACAGGTAGGTGGCTCTCCACTTCATCCCCCGCGTGTTTCCGTCGCTGCACTCTCTGCTTCTGTGGCTCAGCATCCTGGAGGGAATCCTGCCACCAGCTTTTAACTAGAGACGCAGGTCTGATCTCGCAGGTGGACTACGAGGCTAGTCCTGCCCATGTTTGGCACCCTGACTCGGCTATGAAATGAACTAGGCAGTCCTTTCTCACCTAGAATGCTGGCCCCAGTGACTCCAGGAAAAGACGGCTCTTGATTTTAGAGGTGCTGGATTTTAAAAATAAGGTAGTTGGGCCAGTTAACCCATGGGGAATTTTTGTACTCAAAAATCTTGTCTTCCTTTTGTGCTGCAGGCAGGATTTAATGGTGGAAACCTCACCAATTTCTTCAGCCTCCCGGGGTCAAGAACCCCCGAGATCGTGAATATCCAGGAGACCACAAACGTCAATGTTCCAGGCCGCTGGGCATTTAAAGTTGATGGAAAGGAAATTGACCCAGCCAATGGCTGCACCTCAAGGGGTAAAGCTTTTCCTCTGTCTGTGGCAAGGCAGGGTTTGTTTAGTGTAGATTGACAGGCAAGCTTTTAAGCCACGGGGGCGGACTCATTCCTGATGCCTTACTCTTTTGACATCTCTCCGCTGGGTAATGGAGATCAAGGTAATTTTAGCATGTGCATTCATCACATCAGAAGCTAAAACACTGCATTCACTACCTTGTGGCTTTGGAAGTCCTTTTCTGGAGTGTGCACACAGTTATCCGTTCTGAACAACTCCGAAATGGACCAAGATCTTGAGTGATTTCTGAGCCAGAGGGACAGAAGGCAGCCCTCCTGTTTAACATTATTTTTGTTGTTGTTGTTGCCATTTCCTCCCCCCGCCCTTTATGTTTTTCTTCTCATCCTTATTCTCGCTCTGTCTTCTGCACTTTGTAGATCTACAGGAATGGGTGCAGTTGGAGTATTGCCAAGTTCCTATGAGGGTAAATCAGTACTTCCTAGTATGATTAGAAAAAAAAGAAACAAAAGTTCTCCTAAAATCTTCCCAGCATCAGCAAAACGTGCAGGAATTTGAGGAGAATCAAAGCTGACTTTGGGTATCTGTGAGTAAGCTGTAGTTGAACCTGGGTGGATGTCCTTCACATTGGGCACCCAAAGTTTGGAGCCTTTTCTGAACTATCGAACCCCTTTAGATGTGCAAACTCACCATGGACTTTCAGAGAAACATCCTGGTTTATGAATTCCTGCTTTTTTGTGTCCAAAAATATTTAGAAAACAGAATTTCTGATAATATTTCTACTTCCAGGAGTAGAAGCTACAGAAATTAGAAGAAGGAAATAATGCCTCTGTTCATTAGTCCATCCACCCACCCATCTATCCAGCTACCCACCCACCCACCCACCCATCCACCCACCCATCCATCCACCTACCCACCCACCCATCCACCCACCCATCCATCCACCTACCCACCCACCCATCCACCCACCCATCCATCCACCTAGCCACCCACCCATTCACCCACCCATCCATTTATCCATCCACCCATTCACCCACCCATCCATCCACCTACCCACCCACCCATTCACTCACCCATCCACCTACCCACCCACCCATCCACCCACCCATCCATCCACCTACCCACCCACCCATTCACCCACCCATCTATTTATCCATCTACCCATTCACCCACTCATCCACCTACCCATCCATCCATTCATCCGTCCACCCATTCACCAACCTATCCATCCACCTACCCACCCACCCATTCACCCACCCATCCATTTATCCATCCACCCATTCACCCACTCATCCACCTACCCATCCATCCATTCATCCGTCCACCCATTCACCAACCTATCCATCCACCTACCCACCCACCCATTCACCCACCCATCCATTTATCCATCCACCCATTCACCCACTCATCCACCTACCCATCCATCCATTTATCCATCCACCCATTCACCCACCCATCCATCCACCTACCCACCCACCCATTCACCCATCCATCCATTTATCCATCCACCCATTCAN | pathogenic | 189,459 |
Mutation at chromosome 11, position 121118643, within TECTA: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic | AGACTGCTATGCATTTTTATGTGCCTCCGGACATATATCAATCTAATGAGACTGGGATTTGGCCTGGGGTATAGCAGGGGAAGTGTTCTGTAGAGCTGGTTTATTATATCATCATTCCACAAACAAAATTATCTCAAAGAGTCTACCTTTTGGTCCAAACCTCCTCTATTCAAAGGCATTTTCCTCTCACTTATTGAAAGCCTGAAAAAGCAGGGCCTGGAAATGATGCTGAGTGGAGGCTGTCACAATACATACAGCCCTGAACTAGTGCCAAGGAGTGCTGAGGATTAGGACCTGTTTTCAGGGCTGATGCACATGACTTATTGGGAATGTGACTAAATCTATTCTCTCATTTTTCAACCCTATTCTCAACAGGTATAAAATGGAATTGCCTGTTGAAACATCATTGTTCCTGTTGGGCAGATAGAGTCAAGACTGTTACTGATACACCCGCACCCTCAACTTGGGTTAACCTTGCAGCCTTGTGCTATTCACTCGATAGTCAGTTTTATAAAAACTTGAGATGTTATTTACATTTCTTAATGCTGTGTCTTTGATACTTGCCTTTTCAGACATTCTCATTTTACAAGTGCTTCTACTTCTATCAACCTGTGTCAACTTTTTTATAACATCGCTGTTCTCTGTGAGACAGGGATGAGAAACAGCAGTATCCACATTTTACAGGTTAGGAAAACAGACAGGTGGAAGTTGAATGAGTAGTCTTGGAAATGGATTGCAGATTTGTGACTGCTGCCCAGTTCTCTTGACCCCAATCCCCCAGCAAGGACTAGATCACAGTCCCCAGCCCAGACGTGTTTCTATTTCAATTAAAGGTTGATGTTAGCAACCAGAAAATTTCAAAGTTTTTTGGTGGGGAGGTCATTTATTTACAGAAATGATTTTAAAGACTGCATGTCTACCAAAGAAATAATAGTGTTTTTAAAATTATCACATCCCTTTAAACCATTCCCCTCCCCTTTCCTCATTCTCTTCCTGACCTAGAATTTGTCAAGAAGGTCTGTCCGGTGCATAGACAGAGAGAAGTCCTGGACTTGGACAGGGCCCTAGAGTGGGAAAGAAGACAATTTGTGTAGGTGTAAATCCTGCCTAAGCAGCATCTGCAGGATTCATGAGCCTTTAAATGTGCAAGAAAGTGGTCAGTGCTTTCCAGAACCTTCCCAGGGAGTTTGGGATTTATACTCATGCATCTGACTCCTGATTAGTGCTATTGACCTTTTCCTGCACATACTGGGCCCCCAACAAATGTCTGTTGAATGAATGAACAAATTAGCAAGCAAACAGTGAGTGTTGCCGAGTAACCTGGGTAAACTGGGTCTTCCTTCGGAAGGAAAGGCAGGAAATGACTCCAAGTGTCATACCCTTTTCCATGGATTCATGATAACGTGGTTTTCCTTGAATGTGAGTTTGCTCACCAGCCATGGAGATAATAATACCAAGAGCTTAGACGGGATTCAGACAGACTCCTCTCGGAATCCTGGCTTTACCACGGAGCTGCTGAGTGATCCTGGATGAATTACTTCACTTCTCTTAAGGCTCAGTTTCCTCATTTGTCAAATGAGGGTGACCATACCTCCCTAACAGGGTTCTTACGTGGATTAAATGGTATAATGGAAGTAAAGCATTTAGCCCAATGCCTGGCACAGAGGGGAAATGCTCAGTAAATGTTGGCTCTAATGTCATTATTCCCCAGGACAATTCCTTCGGCGAGGGGAGGTGTTTTGGGATGACTTGAACTGCACCGTCAAGTGCCGCTGTCTGGATTTCAACAATGAGATCTACTGCCAGGAGGCTTCCTGTAGCCCCTACGAGGTGTGCGAACCCAAAGGCAAATTCTTCTACTGCAGCGCTGTGGAGACCAGCACATGCGTGGTGTTTGGGGAGCCACACTACCACACTTTTGACGGCTTCCTCTTCCACTTCCAAGGCTCCTGTGCCTACTTGCTGGCCCGACAGTGTTTGCAGACTTCCAGCCTCCCTTTCTTCAGTGTGGAGGCCAAGAATGAACACCGCAGAGGTTCAGCCGTCTCCTGGGTGAAGGAGCTCTCAGTGGAGGTGAATGGCTACAAGATTCTCATCCCCAAAGGAAGCTATGGAAGAGTCAAGGTGAGCCCCTTTCTATCCTTCACGGGGAAATGGAGAAGCTGGAGATTCTTCAGCCTAGGGAAGACTTCCCCAGATCTACTGGTTCTGCTGTTTGTCTCTGTACAGTGCCAAAGAGATGCACAGCTCTCCCCGCCTTGCAAATAGCTTGTAAAATACTTTACTGGGCCAAATTTTATGTGTACAAGAGCTATCCTAAGCTCTCTCCTCAACATGTCTATCTGCTTTTAAACTTAGAGTACATTTATATTCCTAGTTCCCTCATAAACACTGATAGGCACACACACACACACACACACACACACACACACACACACACACACAGTTCAGAAAAACTGGAAAGAGATAAGTTTCTCATGGTCCTGGCTTGCAATAATTGTAGCCACATAGCCATGCCCTGGAGATGGTACAAACACAATACAAACCCCCAATTCACTACAGCCTTTGATTAATAATCCTCACCCCACCTCAGCCCCAATTCTGTTTGCTCAAGAGCTGCTGCTTCATTTTCAGAGAAACCTCCAAATGGATTGATGTCTCCAGAGGTACCACCTGTGCAGGCACCTGGATTGGCTTTGGTGACTTCCTTAGTGAGGCTTGGGTGGGAAAGTCCCATGAAAGCTCTGCCCAGACACCCCTCGAATAGAGTCCCCAACTCCCACCTAGAATAACAGAGAAGAACATGGGCATCTGCTGGCCAGTTTAGCATATGCAAATGATTCCTGTCACTGTCCACCTGGATTTCAAGCAGGGACATCAACAAAAGAGAAAAAGCAAAAAGCTACTAGCAATTACTCAATTTGTGCAGGCCCCAATTTTCATAATGTTAATCAAGACCTTGTTGCAACCGTGTATTTATTCAAGCAGTAATAACCAAGACCACAAGGGGCTGATTGCTGCAACCCAGTGCAATCCTTAATCCCCATGCATGGAGGTCATTACAGAGATTACAAACCAGAACTGATGCCAATGCAGGGATTTATTTCTTTTTTAAAAAAATGTGTTGTAGTTTTAATTGATGTAGCATGTCCAACAAAAGGCAGGGCCAGGGAACTAATTCCACTCTTTCTGGCTCTGCCTTTCCCAGGTCTGTGCAGTTTATCAGTCTCATTATGAGGAAAGTGAGCTATTACTGTGGTTGAAATGCCAGTGTGCTTGCTATTTGGTTAGTCTCTGTAGGGACAACTCTGTATATCAAATCAAGGCTAAGAGTTTAGATATAGAAATTTGGAGATTTTCCCTTTTAAATTTATATTGTGCTGTTGAGCACTATACTTATCCTTGTAGATAGATGCTGGCATTTCAAGCTAGAAAAAATTTTCACTAGCTTCCCCCTACTTTCCTGTATTTGGGGATGATGTGTATATCAGTAGTTGAAAAAGAAGGCTTCATGCTTTATTCCTATTTTGTATTTTGATTAAAATTCTTTTTTATTCTCAGTCAGATTTTTTTTTTAGAAGGAAAGGGACACCGTAATTTCTTTCAGGCCCAGCAGCTCTGCTAATTTTGCGTGACTCTGTTCCATCGTCCAAGCATAGGGCATGGATTCCTCAATTTTCTGTAGCGACAGGGCGATGTGGGTGAATGTAAATGTTTCAGAAAGAAAAGGTTATGTGACTCCAACTGCAAGCTAACAATGGCTTCCTTTTCCTTTTGCCAAATGGTTTCCAAGCGTCTCTGAATACACCTGCCCTGCTGGGGAGACTGGCTCGATGGATGGCAGAGCCCCGACCCAGGGTGATGTGGGGACAGGCAGGGAGAGGGCTGGGAAGCAGGAAGGAGCCTGAGATGCTGGGAGGCAGCTGACTTCTTCAGCCATGCTGTGCCAGACCAGAAATGGCCACTAAGATCTGTTCTTCCAAAACACAGACCCCCCTTCTCCAGCACTGTCTCCATATGCTGGGATTAGGAGCTGGGTTCTGTACATGGATTTTCCCCACTGAACTGTTCTCAAATAACAAAATAAACAGTTTAG | AGACTGCTATGCATTTTTATGTGCCTCCGGACATATATCAATCTAATGAGACTGGGATTTGGCCTGGGGTATAGCAGGGGAAGTGTTCTGTAGAGCTGGTTTATTATATCATCATTCCACAAACAAAATTATCTCAAAGAGTCTACCTTTTGGTCCAAACCTCCTCTATTCAAAGGCATTTTCCTCTCACTTATTGAAAGCCTGAAAAAGCAGGGCCTGGAAATGATGCTGAGTGGAGGCTGTCACAATACATACAGCCCTGAACTAGTGCCAAGGAGTGCTGAGGATTAGGACCTGTTTTCAGGGCTGATGCACATGACTTATTGGGAATGTGACTAAATCTATTCTCTCATTTTTCAACCCTATTCTCAACAGGTATAAAATGGAATTGCCTGTTGAAACATCATTGTTCCTGTTGGGCAGATAGAGTCAAGACTGTTACTGATACACCCGCACCCTCAACTTGGGTTAACCTTGCAGCCTTGTGCTATTCACTCGATAGTCAGTTTTATAAAAACTTGAGATGTTATTTACATTTCTTAATGCTGTGTCTTTGATACTTGCCTTTTCAGACATTCTCATTTTACAAGTGCTTCTACTTCTATCAACCTGTGTCAACTTTTTTATAACATCGCTGTTCTCTGTGAGACAGGGATGAGAAACAGCAGTATCCACATTTTACAGGTTAGGAAAACAGACAGGTGGAAGTTGAATGAGTAGTCTTGGAAATGGATTGCAGATTTGTGACTGCTGCCCAGTTCTCTTGACCCCAATCCCCCAGCAAGGACTAGATCACAGTCCCCAGCCCAGACGTGTTTCTATTTCAATTAAAGGTTGATGTTAGCAACCAGAAAATTTCAAAGTTTTTTGGTGGGGAGGTCATTTATTTACAGAAATGATTTTAAAGACTGCATGTCTACCAAAGAAATAATAGTGTTTTTAAAATTATCACATCCCTTTAAACCATTCCCCTCCCCTTTCCTCATTCTCTTCCTGACCTAGAATTTGTCAAGAAGGTCTGTCCGGTGCATAGACAGAGAGAAGTCCTGGACTTGGACAGGGCCCTAGAGTGGGAAAGAAGACAATTTGTGTAGGTGTAAATCCTGCCTAAGCAGCATCTGCAGGATTCATGAGCCTTTAAATGTGCAAGAAAGTGGTCAGTGCTTTCCAGAACCTTCCCAGGGAGTTTGGGATTTATACTCATGCATCTGACTCCTGATTAGTGCTATTGACCTTTTCCTGCACATACTGGGCCCCCAACAAATGTCTGTTGAATGAATGAACAAATTAGCAAGCAAACAGTGAGTGTTGCCGAGTAACCTGGGTAAACTGGGTCTTCCTTCGGAAGGAAAGGCAGGAAATGACTCCAAGTGTCATACCCTTTTCCATGGATTCATGATAACGTGGTTTTCCTTGAATGTGAGTTTGCTCACCAGCCATGGAGATAATAATACCAAGAGCTTAGACGGGATTCAGACAGACTCCTCTCGGAATCCTGGCTTTACCACGGAGCTGCTGAGTGATCCTGGATGAATTACTTCACTTCTCTTAAGGCTCAGTTTCCTCATTTGTCAAATGAGGGTGACCATACCTCCCTAACAGGGTTCTTACGTGGATTAAATGGTATAATGGAAGTAAAGCATTTAGCCCAATGCCTGGCACAGAGGGGAAATGCTCAGTAAATGTTGGCTCTAATGTCATTATTCCCCAGGACAATTCCTTCGGCGAGGGGAGGTGTTTTGGGATGACTTGAACTGCACCGTCAAGTGCCGCTGTCTGGATTTCAACAATGAGATCTACTGCCAGGAGGCTTCCTGTAGCCCCTACGAGGTGTGCGAACCCAAAGGCAAATTCTTCTACTGCAGCGCTGTGGAGACCAGCACATGCGTGGTGTTTGGGGAGCCACACTACCACACTTTTGACGGCTTCCTCTTCCACTTCCAAGGCTCCTGTGCCTACTTGCTGGCCCGACAGTGTTTGCAGACTTCCAGCCTCCCTTTCTTCAGTGTGGAGGCCAAGAATGAACACCGCAGAGGTTCAGCCGTCTCCTGAAGGAGCTCTCAGTGGAGGTGAATGGCTACAAGATTCTCATCCCCAAAGGAAGCTATGGAAGAGTCAAGGTGAGCCCCTTTCTATCCTTCACGGGGAAATGGAGAAGCTGGAGATTCTTCAGCCTAGGGAAGACTTCCCCAGATCTACTGGTTCTGCTGTTTGTCTCTGTACAGTGCCAAAGAGATGCACAGCTCTCCCCGCCTTGCAAATAGCTTGTAAAATACTTTACTGGGCCAAATTTTATGTGTACAAGAGCTATCCTAAGCTCTCTCCTCAACATGTCTATCTGCTTTTAAACTTAGAGTACATTTATATTCCTAGTTCCCTCATAAACACTGATAGGCACACACACACACACACACACACACACACACACACACACACACACAGTTCAGAAAAACTGGAAAGAGATAAGTTTCTCATGGTCCTGGCTTGCAATAATTGTAGCCACATAGCCATGCCCTGGAGATGGTACAAACACAATACAAACCCCCAATTCACTACAGCCTTTGATTAATAATCCTCACCCCACCTCAGCCCCAATTCTGTTTGCTCAAGAGCTGCTGCTTCATTTTCAGAGAAACCTCCAAATGGATTGATGTCTCCAGAGGTACCACCTGTGCAGGCACCTGGATTGGCTTTGGTGACTTCCTTAGTGAGGCTTGGGTGGGAAAGTCCCATGAAAGCTCTGCCCAGACACCCCTCGAATAGAGTCCCCAACTCCCACCTAGAATAACAGAGAAGAACATGGGCATCTGCTGGCCAGTTTAGCATATGCAAATGATTCCTGTCACTGTCCACCTGGATTTCAAGCAGGGACATCAACAAAAGAGAAAAAGCAAAAAGCTACTAGCAATTACTCAATTTGTGCAGGCCCCAATTTTCATAATGTTAATCAAGACCTTGTTGCAACCGTGTATTTATTCAAGCAGTAATAACCAAGACCACAAGGGGCTGATTGCTGCAACCCAGTGCAATCCTTAATCCCCATGCATGGAGGTCATTACAGAGATTACAAACCAGAACTGATGCCAATGCAGGGATTTATTTCTTTTTTAAAAAAATGTGTTGTAGTTTTAATTGATGTAGCATGTCCAACAAAAGGCAGGGCCAGGGAACTAATTCCACTCTTTCTGGCTCTGCCTTTCCCAGGTCTGTGCAGTTTATCAGTCTCATTATGAGGAAAGTGAGCTATTACTGTGGTTGAAATGCCAGTGTGCTTGCTATTTGGTTAGTCTCTGTAGGGACAACTCTGTATATCAAATCAAGGCTAAGAGTTTAGATATAGAAATTTGGAGATTTTCCCTTTTAAATTTATATTGTGCTGTTGAGCACTATACTTATCCTTGTAGATAGATGCTGGCATTTCAAGCTAGAAAAAATTTTCACTAGCTTCCCCCTACTTTCCTGTATTTGGGGATGATGTGTATATCAGTAGTTGAAAAAGAAGGCTTCATGCTTTATTCCTATTTTGTATTTTGATTAAAATTCTTTTTTATTCTCAGTCAGATTTTTTTTTTAGAAGGAAAGGGACACCGTAATTTCTTTCAGGCCCAGCAGCTCTGCTAATTTTGCGTGACTCTGTTCCATCGTCCAAGCATAGGGCATGGATTCCTCAATTTTCTGTAGCGACAGGGCGATGTGGGTGAATGTAAATGTTTCAGAAAGAAAAGGTTATGTGACTCCAACTGCAAGCTAACAATGGCTTCCTTTTCCTTTTGCCAAATGGTTTCCAAGCGTCTCTGAATACACCTGCCCTGCTGGGGAGACTGGCTCGATGGATGGCAGAGCCCCGACCCAGGGTGATGTGGGGACAGGCAGGGAGAGGGCTGGGAAGCAGGAAGGAGCCTGAGATGCTGGGAGGCAGCTGACTTCTTCAGCCATGCTGTGCCAGACCAGAAATGGCCACTAAGATCTGTTCTTCCAAAACACAGACCCCCCTTCTCCAGCACTGTCTCCATATGCTGGGATTAGGAGCTGGGTTCTGTACATGGATTTTCCCCACTGAACTGTTCTCAAATAACAAAATAAACAGTTTAGNNNN | pathogenic | 189,468 |
Variant chromosome 11, position 121128317, gene TECTA: benign or pathogenic? Disease(s)? | pathogenic | CACATGGAACCTGTAGCAATTGTTCCTGGCACTTTCTTCTCCACTGTCAGACCCTTAAGGGTTTGTGCCCTGCTGCTGCTGCAGATGAGGAGTACAGCATATGAGTAAAGAAGCCCTTTTTCTTAAATATTAGGAGTGGTTAGGAAAAGCCCCAACTTTGAGGGAAATCCTGGCTCTTTTGAATTACACTTTTGGATTAAGCATTTTGTACCATTTAATTGTCTTAGTACTTTTTCCCTGTATCCCACTTAAAATTTATTTCTTTTTCTAGTTATACACAGTTTAAAAACAAATAGATTTCGTTTCCTTCCTAGTCCTTGGTTTTCTCCATATGAGTAAATAGAAAATTGTAATCCATGCATTTGAGAGTGCTAGGGAGGTGAGAAGATTTAAAAGTTTCTTTAAGTTCCAAGGCTAGAGGGAGAATTCTTCCCATCAGTATAAGTTGGAGTCACATAAACCATAATGTATCAGGTTCAATTCTTAAGAGTTTTGGTCAAACTACAATACAAGCAACTGTATTCTTGCTGTGTGACTGACCAGCCTCTCTTATGACCAGAGCATCCATATTTGGATTCAAGTTGAGATTGAATATGGCTTCTCTTTGATCCTTACAAGAGCATCCAAATTACCTGACTAAAATGTTACAATGGCCACAGATATATATTTTCTAGTGGCACTACTTTCCCATCCTCTACATTTCGCTTTCTTTTCTGGCTCAATGGACTCTGTTTAATTCAGAGAGCTAGTTTGCTAGGCCCCTGAGCCCCTGCTTGTTGGATTCAACCAGACTCAAACATTTATGTAGACCCAGATGTTATTAAAGCAAGAACCGAAGATTTCTAAGGCAAGAAGGGCCTTTAGAAGACATCTTACCTTGTCTCCTGGAGAAACAGCCACACAAATTCTTTGAATTCTTTGGAGGTAGCCAGGGCGCTTTCTTATTTTTAATATCCCAGGGAATTCATCCCCACAGCCTTCCTTGGTCACACTTAGGTATTTTAAGTGCCTCCCTGTTACAAATTTCACGTTTTCAAATTACTCCTCTAATGGTTACATTTTTCATTTCTCCTGAAAATTGGATTTATTTCCTTCTAAGAATGGACCATGCTCTTTAAAATCAGATCAATTTATATGTCCATCAGTGGAAGGTCTTAAAATATCTCGGTAGTGTGGATCATCAAATAATAAACCTATATTGGGTAATCAGTAGTCTAGAAAGGATGGCATCCTGAAAGTTTAATTTTAGTCAAGATGATCAAATTCCAATAGAAGTTCACAGTCCAATCATGCTGCTCAGTAGTTATTAGGAGAGTCATTGAGCTGGGTTTTACAGATACAACCTCAATTCTGTCTTCCCCGAGTGGCCGCTTGACCCTCACTCTAGGAACTAAATGATCCAGGAGGAGCGTTAAGATTCTGGCGGGTTAGCACTCCGGGTCCATTCACCTTGTTATCGGCTCTCTTCCTTTCCCCGCGTCAGTGTCCACAGTGCAGTGCCCGAGCTTCAGCCACTACTCCGTGTGCACAAGCAGCTGCCCCGACACATGCTCCGACCTGACGGCCTCGCGGAACTGCGCCACGCCGTGCACAGAGGGCTGCGAGTGCAACCAGGGCTTCGTCCTCAGCACCAGCCAGTGCGTCCCTCTGCACAAGTGCGGCTGCGACTTCGACGGCCACTACTACACCATGGGGGAGTTCTTCTGGGCCACGGCCAACTGCACTGTGCAATGCCTGTGCGAGGAGGGCGGGGACGTCTACTGCTTCAACAAGACCTGCGGCAGCGGGGAGGTGTGCGCCGTGGAGGACGGCTACCAGGGCTGCTTCCCCAAGCGGGAGACCGTGTGCCTGCTCAGCCAGAACCAGGTGCTGCACACCTTTGACGGCGCCTCCTACGCCTTCCCCTCCGAGTTCTCCTACACCCTCCTGAAGACCTGCCCTGAGCGCCCAGAGTACTTGGAAATCGACATCAACAAGAAGAAGCCCGATGCAGGACCTGCTTGGCTGCGGGGACTTCGGATCCTGGTGGCCGACCAGGAGGTCAAGATAGGAGGCATCGGGGCTTCGGAAGTCAAGGTAAGGCTCCTTGCTCCTTTGGAGGGGTTCCTGGTACGTCCAGCCAGGAGGAGGAGCTCGCCATCCTCTTCAGGTTTGCCTTTCTGCCTCTGCCTATGAGTGGATTTTAGAAAGAAGATGGCTCCAAACGGGAGCGTTTTCTAATGATCTGCACCAAATAAGAATTATCAGGTGGAGAAATGGCATGCAGCTGGGATTTCTCCAATTAGATAGAGCAGGACTAGCTCTCCGGAATAGCAAATACTTACAGAACACTTACTATGTGCCAAGCACTATTCTAAGCCCCTTATAAGCAGTATCACACTTCATCTTATGATCCTCATTTTACAGATGAGAAAGCTGAGGAGCAGAGAGGCTAAGTAACTTCCACAGGGACACCTAACCGTGAAGGGAGATTCACACCTGCCTGGCTGGCTCCAGAATCTGCGCTCTTAACCCTTGCACCCTACTAACTCCCCTACCTATACATGCCAGTCTATGTGGGGTGATGTAAGGGGTGACTCCCACCCCTCTGACTTGCTCTGAAAAACCCATCATTAGGCACCCAGACTTATAGATCCTTAGCTCTAGAAGGAATATTGAGAATTATCTAGTGCAACTCCTCATTTCACATGAAGACACTTACTAAAAGGGTAAGTGAAGGTCCCACAGCTAATTGTTGCAGAACGGGGATGCAACATGCATTTTATGTCACCTGAAGTCTAGTTTGGAAAACAAAAGCCAACACAGTACTGCCCAAGGAGATAATAAAATACGCATCCACAAACTGGAAGGGATGTGTTTTTATTCTCATTGCCACATTGGCAGAGATTTATTTATTAATAGACTAGTAGGAAGTAGATAGAAGAATGGACAGCTAGATCATTAGAGATATGCTATGTGCCCTCGAGGAGCTGGGACACAGAAAAAGTAAGACTGGAAGAGAAAAGCAGCCAGAAAGGCAGGGAAGGAGGGGAGCTATTTTGAAAGGTACCAAAACAGAGATGCCAGGCGGCAGGAGGGAGCCACGTATCTAAGACGATTTTTGCTCACACTTTAGTTTCGTTTGTTTTGGGCTAGCTTTGGGTCCAGAACACACAAATAAACAGCAAATGGGTCTAATCAGGGGAATCCAAAAAGAAATAAATAAAGAAGCCCATGACAAATCGGTTGGTATCTTTGTGGGTTCCATCAGCTTCTTGACCTCTCTCAAAAGGCTAGCAATAGGGCAGACCGTGTCTTTATCCCACAGCCTAGGAAATGGAAAGTGCTCTGTGTGTCTCTGGAATTGATAAGAATGACTTGATTTTTCAGTTGAATGGTCAGGAAGTGGAATTGCCTTTTTTCCATCCTTCGGGGAAGCTGGAAATTTATCGAAACAAAAACAGTACGACAGTGGAGTCCAAGGGCGTGGTGACTGTCCAGTACTCAGACATAGGTCTATTGTACATCCGGCTGTCCACCACATACTTCAATTGCACAGGGGGCTTGTGCGGCTTCTACAATGCCAACGCCAGTGACGAGTTCTGTCTCCCCAACGGCAAGTGCACGGACAACCTGGCAGTGTTCCTGGAAAGCTGGACAACTTTCGAGGAGATCTGCAATGGAGAGTGTGGGGACCTGCTGAAGGCCTGCAACAATGACTCGGAGCTGCTCAAGTTTTATCGAAGCCGCTCCAGGTGCGGCATCATCAACGACCCCTCCAACAGCTCCTTCCTGGAGTGCCATGGGGTGGTGAACGTCACTGCCTATTACCGCACCTGCCTTTTCCGCCTGTGCCAGAGTGGGGGCAATGAGTCAGAGCTCTGTGACTCTGTGGCCCGGTATGCAAGCGCCTGCAAGAATGCGGACGTGGAGGTGGGGCCCTGGCGGACCTATGACTTCTGCCGTAAGTTGGGGTTGGATTCTGGGAGAGGCTTTCTAGCTGGGAAATAGGTGCCATGCTGGGCCTTACTCAGGACTTCCCTTCCAGGTGGGACTGAGCTCAAGGGTGATGTTAATTACTGTGTATACCTACCCTAGTCTGATGTGTCCTCCCAAA | CACATGGAACCTGTAGCAATTGTTCCTGGCACTTTCTTCTCCACTGTCAGACCCTTAAGGGTTTGTGCCCTGCTGCTGCTGCAGATGAGGAGTACAGCATATGAGTAAAGAAGCCCTTTTTCTTAAATATTAGGAGTGGTTAGGAAAAGCCCCAACTTTGAGGGAAATCCTGGCTCTTTTGAATTACACTTTTGGATTAAGCATTTTGTACCATTTAATTGTCTTAGTACTTTTTCCCTGTATCCCACTTAAAATTTATTTCTTTTTCTAGTTATACACAGTTTAAAAACAAATAGATTTCGTTTCCTTCCTAGTCCTTGGTTTTCTCCATATGAGTAAATAGAAAATTGTAATCCATGCATTTGAGAGTGCTAGGGAGGTGAGAAGATTTAAAAGTTTCTTTAAGTTCCAAGGCTAGAGGGAGAATTCTTCCCATCAGTATAAGTTGGAGTCACATAAACCATAATGTATCAGGTTCAATTCTTAAGAGTTTTGGTCAAACTACAATACAAGCAACTGTATTCTTGCTGTGTGACTGACCAGCCTCTCTTATGACCAGAGCATCCATATTTGGATTCAAGTTGAGATTGAATATGGCTTCTCTTTGATCCTTACAAGAGCATCCAAATTACCTGACTAAAATGTTACAATGGCCACAGATATATATTTTCTAGTGGCACTACTTTCCCATCCTCTACATTTCGCTTTCTTTTCTGGCTCAATGGACTCTGTTTAATTCAGAGAGCTAGTTTGCTAGGCCCCTGAGCCCCTGCTTGTTGGATTCAACCAGACTCAAACATTTATGTAGACCCAGATGTTATTAAAGCAAGAACCGAAGATTTCTAAGGCAAGAAGGGCCTTTAGAAGACATCTTACCTTGTCTCCTGGAGAAACAGCCACACAAATTCTTTGAATTCTTTGGAGGTAGCCAGGGCGCTTTCTTATTTTTAATATCCCAGGGAATTCATCCCCACAGCCTTCCTTGGTCACACTTAGGTATTTTAAGTGCCTCCCTGTTACAAATTTCACGTTTTCAAATTACTCCTCTAATGGTTACATTTTTCATTTCTCCTGAAAATTGGATTTATTTCCTTCTAAGAATGGACCATGCTCTTTAAAATCAGATCAATTTATATGTCCATCAGTGGAAGGTCTTAAAATATCTCGGTAGTGTGGATCATCAAATAATAAACCTATATTGGGTAATCAGTAGTCTAGAAAGGATGGCATCCTGAAAGTTTAATTTTAGTCAAGATGATCAAATTCCAATAGAAGTTCACAGTCCAATCATGCTGCTCAGTAGTTATTAGGAGAGTCATTGAGCTGGGTTTTACAGATACAACCTCAATTCTGTCTTCCCCGAGTGGCCGCTTGACCCTCACTCTAGGAACTAAATGATCCAGGAGGAGCGTTAAGATTCTGGCGGGTTAGCACTCCGGGTCCATTCACCTTGTTATCGGCTCTCTTCCTTTCCCCGCGTCAGTGTCCACAGTGCAGTGCCCGAGCTTCAGCCACTACTCCGTGTGCACAAGCAGCTGCCCCGACACATGCTCCGACCTGACGGCCTCGCGGAACTGCGCCACGCCGTGCACAGAGGGCTGCGAGTGCAACCAGGGCTTCGTCCTCAGCACCAGCCAGTGCGTCCCTCTGCACAAGTGCGGCTGCGACTTCGACGGCCACTACTACACCATGGGGGAGTTCTTCTGGGCCACGGCCAACTGCACTGTGCAATGCCTGTGCGAGGAGGGCGGGGACGTCTACTGCTTCAACAAGACCTGCGGCAGCGGGGAGGTGTGCGCCGTGGAGGACGGCTACCAGGGCTGCTTCCCCAAGCGGGAGACCGTGTGCCTGCTCAGCCAGAACCAGGTGCTGCACACCTTTGACGGCGCCTCCTACGCCTTCCCCTCCGAGTTCTCCTACACCCTCCTGAAGACCTGCCCTGAGCGCCCAGAGTACTTGGAAATCGACATCAACAAGAAGAAGCCCGATGCAGGACCTGCTTGGCTGCGGGGACTTCGGATCCTGGTGGCCGACCAGGAGGTCAAGATAGGAGGGAGGCATCGGGGCTTCGGAAGTCAAGGTAAGGCTCCTTGCTCCTTTGGAGGGGTTCCTGGTACGTCCAGCCAGGAGGAGGAGCTCGCCATCCTCTTCAGGTTTGCCTTTCTGCCTCTGCCTATGAGTGGATTTTAGAAAGAAGATGGCTCCAAACGGGAGCGTTTTCTAATGATCTGCACCAAATAAGAATTATCAGGTGGAGAAATGGCATGCAGCTGGGATTTCTCCAATTAGATAGAGCAGGACTAGCTCTCCGGAATAGCAAATACTTACAGAACACTTACTATGTGCCAAGCACTATTCTAAGCCCCTTATAAGCAGTATCACACTTCATCTTATGATCCTCATTTTACAGATGAGAAAGCTGAGGAGCAGAGAGGCTAAGTAACTTCCACAGGGACACCTAACCGTGAAGGGAGATTCACACCTGCCTGGCTGGCTCCAGAATCTGCGCTCTTAACCCTTGCACCCTACTAACTCCCCTACCTATACATGCCAGTCTATGTGGGGTGATGTAAGGGGTGACTCCCACCCCTCTGACTTGCTCTGAAAAACCCATCATTAGGCACCCAGACTTATAGATCCTTAGCTCTAGAAGGAATATTGAGAATTATCTAGTGCAACTCCTCATTTCACATGAAGACACTTACTAAAAGGGTAAGTGAAGGTCCCACAGCTAATTGTTGCAGAACGGGGATGCAACATGCATTTTATGTCACCTGAAGTCTAGTTTGGAAAACAAAAGCCAACACAGTACTGCCCAAGGAGATAATAAAATACGCATCCACAAACTGGAAGGGATGTGTTTTTATTCTCATTGCCACATTGGCAGAGATTTATTTATTAATAGACTAGTAGGAAGTAGATAGAAGAATGGACAGCTAGATCATTAGAGATATGCTATGTGCCCTCGAGGAGCTGGGACACAGAAAAAGTAAGACTGGAAGAGAAAAGCAGCCAGAAAGGCAGGGAAGGAGGGGAGCTATTTTGAAAGGTACCAAAACAGAGATGCCAGGCGGCAGGAGGGAGCCACGTATCTAAGACGATTTTTGCTCACACTTTAGTTTCGTTTGTTTTGGGCTAGCTTTGGGTCCAGAACACACAAATAAACAGCAAATGGGTCTAATCAGGGGAATCCAAAAAGAAATAAATAAAGAAGCCCATGACAAATCGGTTGGTATCTTTGTGGGTTCCATCAGCTTCTTGACCTCTCTCAAAAGGCTAGCAATAGGGCAGACCGTGTCTTTATCCCACAGCCTAGGAAATGGAAAGTGCTCTGTGTGTCTCTGGAATTGATAAGAATGACTTGATTTTTCAGTTGAATGGTCAGGAAGTGGAATTGCCTTTTTTCCATCCTTCGGGGAAGCTGGAAATTTATCGAAACAAAAACAGTACGACAGTGGAGTCCAAGGGCGTGGTGACTGTCCAGTACTCAGACATAGGTCTATTGTACATCCGGCTGTCCACCACATACTTCAATTGCACAGGGGGCTTGTGCGGCTTCTACAATGCCAACGCCAGTGACGAGTTCTGTCTCCCCAACGGCAAGTGCACGGACAACCTGGCAGTGTTCCTGGAAAGCTGGACAACTTTCGAGGAGATCTGCAATGGAGAGTGTGGGGACCTGCTGAAGGCCTGCAACAATGACTCGGAGCTGCTCAAGTTTTATCGAAGCCGCTCCAGGTGCGGCATCATCAACGACCCCTCCAACAGCTCCTTCCTGGAGTGCCATGGGGTGGTGAACGTCACTGCCTATTACCGCACCTGCCTTTTCCGCCTGTGCCAGAGTGGGGGCAATGAGTCAGAGCTCTGTGACTCTGTGGCCCGGTATGCAAGCGCCTGCAAGAATGCGGACGTGGAGGTGGGGCCCTGGCGGACCTATGACTTCTGCCGTAAGTTGGGGTTGGATTCTGGGAGAGGCTTTCTAGCTGGGAAATAGGTGCCATGCTGGGCCTTACTCAGGACTTCCCTTCCAGGTGGGACTGAGCTCAAGGGTGATGTTAATTACTGTGTATACCTACCCTAGTCTGATGTGTCCTCC | pathogenic | 189,489 |
A genetic variant at chromosome 11, position 121128334, affecting gene TECTA—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hearing_impairment'] | AATTGTTCCTGGCACTTTCTTCTCCACTGTCAGACCCTTAAGGGTTTGTGCCCTGCTGCTGCTGCAGATGAGGAGTACAGCATATGAGTAAAGAAGCCCTTTTTCTTAAATATTAGGAGTGGTTAGGAAAAGCCCCAACTTTGAGGGAAATCCTGGCTCTTTTGAATTACACTTTTGGATTAAGCATTTTGTACCATTTAATTGTCTTAGTACTTTTTCCCTGTATCCCACTTAAAATTTATTTCTTTTTCTAGTTATACACAGTTTAAAAACAAATAGATTTCGTTTCCTTCCTAGTCCTTGGTTTTCTCCATATGAGTAAATAGAAAATTGTAATCCATGCATTTGAGAGTGCTAGGGAGGTGAGAAGATTTAAAAGTTTCTTTAAGTTCCAAGGCTAGAGGGAGAATTCTTCCCATCAGTATAAGTTGGAGTCACATAAACCATAATGTATCAGGTTCAATTCTTAAGAGTTTTGGTCAAACTACAATACAAGCAACTGTATTCTTGCTGTGTGACTGACCAGCCTCTCTTATGACCAGAGCATCCATATTTGGATTCAAGTTGAGATTGAATATGGCTTCTCTTTGATCCTTACAAGAGCATCCAAATTACCTGACTAAAATGTTACAATGGCCACAGATATATATTTTCTAGTGGCACTACTTTCCCATCCTCTACATTTCGCTTTCTTTTCTGGCTCAATGGACTCTGTTTAATTCAGAGAGCTAGTTTGCTAGGCCCCTGAGCCCCTGCTTGTTGGATTCAACCAGACTCAAACATTTATGTAGACCCAGATGTTATTAAAGCAAGAACCGAAGATTTCTAAGGCAAGAAGGGCCTTTAGAAGACATCTTACCTTGTCTCCTGGAGAAACAGCCACACAAATTCTTTGAATTCTTTGGAGGTAGCCAGGGCGCTTTCTTATTTTTAATATCCCAGGGAATTCATCCCCACAGCCTTCCTTGGTCACACTTAGGTATTTTAAGTGCCTCCCTGTTACAAATTTCACGTTTTCAAATTACTCCTCTAATGGTTACATTTTTCATTTCTCCTGAAAATTGGATTTATTTCCTTCTAAGAATGGACCATGCTCTTTAAAATCAGATCAATTTATATGTCCATCAGTGGAAGGTCTTAAAATATCTCGGTAGTGTGGATCATCAAATAATAAACCTATATTGGGTAATCAGTAGTCTAGAAAGGATGGCATCCTGAAAGTTTAATTTTAGTCAAGATGATCAAATTCCAATAGAAGTTCACAGTCCAATCATGCTGCTCAGTAGTTATTAGGAGAGTCATTGAGCTGGGTTTTACAGATACAACCTCAATTCTGTCTTCCCCGAGTGGCCGCTTGACCCTCACTCTAGGAACTAAATGATCCAGGAGGAGCGTTAAGATTCTGGCGGGTTAGCACTCCGGGTCCATTCACCTTGTTATCGGCTCTCTTCCTTTCCCCGCGTCAGTGTCCACAGTGCAGTGCCCGAGCTTCAGCCACTACTCCGTGTGCACAAGCAGCTGCCCCGACACATGCTCCGACCTGACGGCCTCGCGGAACTGCGCCACGCCGTGCACAGAGGGCTGCGAGTGCAACCAGGGCTTCGTCCTCAGCACCAGCCAGTGCGTCCCTCTGCACAAGTGCGGCTGCGACTTCGACGGCCACTACTACACCATGGGGGAGTTCTTCTGGGCCACGGCCAACTGCACTGTGCAATGCCTGTGCGAGGAGGGCGGGGACGTCTACTGCTTCAACAAGACCTGCGGCAGCGGGGAGGTGTGCGCCGTGGAGGACGGCTACCAGGGCTGCTTCCCCAAGCGGGAGACCGTGTGCCTGCTCAGCCAGAACCAGGTGCTGCACACCTTTGACGGCGCCTCCTACGCCTTCCCCTCCGAGTTCTCCTACACCCTCCTGAAGACCTGCCCTGAGCGCCCAGAGTACTTGGAAATCGACATCAACAAGAAGAAGCCCGATGCAGGACCTGCTTGGCTGCGGGGACTTCGGATCCTGGTGGCCGACCAGGAGGTCAAGATAGGAGGCATCGGGGCTTCGGAAGTCAAGGTAAGGCTCCTTGCTCCTTTGGAGGGGTTCCTGGTACGTCCAGCCAGGAGGAGGAGCTCGCCATCCTCTTCAGGTTTGCCTTTCTGCCTCTGCCTATGAGTGGATTTTAGAAAGAAGATGGCTCCAAACGGGAGCGTTTTCTAATGATCTGCACCAAATAAGAATTATCAGGTGGAGAAATGGCATGCAGCTGGGATTTCTCCAATTAGATAGAGCAGGACTAGCTCTCCGGAATAGCAAATACTTACAGAACACTTACTATGTGCCAAGCACTATTCTAAGCCCCTTATAAGCAGTATCACACTTCATCTTATGATCCTCATTTTACAGATGAGAAAGCTGAGGAGCAGAGAGGCTAAGTAACTTCCACAGGGACACCTAACCGTGAAGGGAGATTCACACCTGCCTGGCTGGCTCCAGAATCTGCGCTCTTAACCCTTGCACCCTACTAACTCCCCTACCTATACATGCCAGTCTATGTGGGGTGATGTAAGGGGTGACTCCCACCCCTCTGACTTGCTCTGAAAAACCCATCATTAGGCACCCAGACTTATAGATCCTTAGCTCTAGAAGGAATATTGAGAATTATCTAGTGCAACTCCTCATTTCACATGAAGACACTTACTAAAAGGGTAAGTGAAGGTCCCACAGCTAATTGTTGCAGAACGGGGATGCAACATGCATTTTATGTCACCTGAAGTCTAGTTTGGAAAACAAAAGCCAACACAGTACTGCCCAAGGAGATAATAAAATACGCATCCACAAACTGGAAGGGATGTGTTTTTATTCTCATTGCCACATTGGCAGAGATTTATTTATTAATAGACTAGTAGGAAGTAGATAGAAGAATGGACAGCTAGATCATTAGAGATATGCTATGTGCCCTCGAGGAGCTGGGACACAGAAAAAGTAAGACTGGAAGAGAAAAGCAGCCAGAAAGGCAGGGAAGGAGGGGAGCTATTTTGAAAGGTACCAAAACAGAGATGCCAGGCGGCAGGAGGGAGCCACGTATCTAAGACGATTTTTGCTCACACTTTAGTTTCGTTTGTTTTGGGCTAGCTTTGGGTCCAGAACACACAAATAAACAGCAAATGGGTCTAATCAGGGGAATCCAAAAAGAAATAAATAAAGAAGCCCATGACAAATCGGTTGGTATCTTTGTGGGTTCCATCAGCTTCTTGACCTCTCTCAAAAGGCTAGCAATAGGGCAGACCGTGTCTTTATCCCACAGCCTAGGAAATGGAAAGTGCTCTGTGTGTCTCTGGAATTGATAAGAATGACTTGATTTTTCAGTTGAATGGTCAGGAAGTGGAATTGCCTTTTTTCCATCCTTCGGGGAAGCTGGAAATTTATCGAAACAAAAACAGTACGACAGTGGAGTCCAAGGGCGTGGTGACTGTCCAGTACTCAGACATAGGTCTATTGTACATCCGGCTGTCCACCACATACTTCAATTGCACAGGGGGCTTGTGCGGCTTCTACAATGCCAACGCCAGTGACGAGTTCTGTCTCCCCAACGGCAAGTGCACGGACAACCTGGCAGTGTTCCTGGAAAGCTGGACAACTTTCGAGGAGATCTGCAATGGAGAGTGTGGGGACCTGCTGAAGGCCTGCAACAATGACTCGGAGCTGCTCAAGTTTTATCGAAGCCGCTCCAGGTGCGGCATCATCAACGACCCCTCCAACAGCTCCTTCCTGGAGTGCCATGGGGTGGTGAACGTCACTGCCTATTACCGCACCTGCCTTTTCCGCCTGTGCCAGAGTGGGGGCAATGAGTCAGAGCTCTGTGACTCTGTGGCCCGGTATGCAAGCGCCTGCAAGAATGCGGACGTGGAGGTGGGGCCCTGGCGGACCTATGACTTCTGCCGTAAGTTGGGGTTGGATTCTGGGAGAGGCTTTCTAGCTGGGAAATAGGTGCCATGCTGGGCCTTACTCAGGACTTCCCTTCCAGGTGGGACTGAGCTCAAGGGTGATGTTAATTACTGTGTATACCTACCCTAGTCTGATGTGTCCTCCCAAAGACTCATCACCCCAAAC | AATTGTTCCTGGCACTTTCTTCTCCACTGTCAGACCCTTAAGGGTTTGTGCCCTGCTGCTGCTGCAGATGAGGAGTACAGCATATGAGTAAAGAAGCCCTTTTTCTTAAATATTAGGAGTGGTTAGGAAAAGCCCCAACTTTGAGGGAAATCCTGGCTCTTTTGAATTACACTTTTGGATTAAGCATTTTGTACCATTTAATTGTCTTAGTACTTTTTCCCTGTATCCCACTTAAAATTTATTTCTTTTTCTAGTTATACACAGTTTAAAAACAAATAGATTTCGTTTCCTTCCTAGTCCTTGGTTTTCTCCATATGAGTAAATAGAAAATTGTAATCCATGCATTTGAGAGTGCTAGGGAGGTGAGAAGATTTAAAAGTTTCTTTAAGTTCCAAGGCTAGAGGGAGAATTCTTCCCATCAGTATAAGTTGGAGTCACATAAACCATAATGTATCAGGTTCAATTCTTAAGAGTTTTGGTCAAACTACAATACAAGCAACTGTATTCTTGCTGTGTGACTGACCAGCCTCTCTTATGACCAGAGCATCCATATTTGGATTCAAGTTGAGATTGAATATGGCTTCTCTTTGATCCTTACAAGAGCATCCAAATTACCTGACTAAAATGTTACAATGGCCACAGATATATATTTTCTAGTGGCACTACTTTCCCATCCTCTACATTTCGCTTTCTTTTCTGGCTCAATGGACTCTGTTTAATTCAGAGAGCTAGTTTGCTAGGCCCCTGAGCCCCTGCTTGTTGGATTCAACCAGACTCAAACATTTATGTAGACCCAGATGTTATTAAAGCAAGAACCGAAGATTTCTAAGGCAAGAAGGGCCTTTAGAAGACATCTTACCTTGTCTCCTGGAGAAACAGCCACACAAATTCTTTGAATTCTTTGGAGGTAGCCAGGGCGCTTTCTTATTTTTAATATCCCAGGGAATTCATCCCCACAGCCTTCCTTGGTCACACTTAGGTATTTTAAGTGCCTCCCTGTTACAAATTTCACGTTTTCAAATTACTCCTCTAATGGTTACATTTTTCATTTCTCCTGAAAATTGGATTTATTTCCTTCTAAGAATGGACCATGCTCTTTAAAATCAGATCAATTTATATGTCCATCAGTGGAAGGTCTTAAAATATCTCGGTAGTGTGGATCATCAAATAATAAACCTATATTGGGTAATCAGTAGTCTAGAAAGGATGGCATCCTGAAAGTTTAATTTTAGTCAAGATGATCAAATTCCAATAGAAGTTCACAGTCCAATCATGCTGCTCAGTAGTTATTAGGAGAGTCATTGAGCTGGGTTTTACAGATACAACCTCAATTCTGTCTTCCCCGAGTGGCCGCTTGACCCTCACTCTAGGAACTAAATGATCCAGGAGGAGCGTTAAGATTCTGGCGGGTTAGCACTCCGGGTCCATTCACCTTGTTATCGGCTCTCTTCCTTTCCCCGCGTCAGTGTCCACAGTGCAGTGCCCGAGCTTCAGCCACTACTCCGTGTGCACAAGCAGCTGCCCCGACACATGCTCCGACCTGACGGCCTCGCGGAACTGCGCCACGCCGTGCACAGAGGGCTGCGAGTGCAACCAGGGCTTCGTCCTCAGCACCAGCCAGTGCGTCCCTCTGCACAAGTGCGGCTGCGACTTCGACGGCCACTACTACACCATGGGGGAGTTCTTCTGGGCCACGGCCAACTGCACTGTGCAATGCCTGTGCGAGGAGGGCGGGGACGTCTACTGCTTCAACAAGACCTGCGGCAGCGGGGAGGTGTGCGCCGTGGAGGACGGCTACCAGGGCTGCTTCCCCAAGCGGGAGACCGTGTGCCTGCTCAGCCAGAACCAGGTGCTGCACACCTTTGACGGCGCCTCCTACGCCTTCCCCTCCGAGTTCTCCTACACCCTCCTGAAGACCTGCCCTGAGCGCCCAGAGTACTTGGAAATCGACATCAACAAGAAGAAGCCCGATGCAGGACCTGCTTGGCTGCGGGGACTTCGGATCCTGGTGGCCGACCAGGAGGTCAAGATAGGAGGCATCGGGGCTTCGAAGTCAAGGTAAGGCTCCTTGCTCCTTTGGAGGGGTTCCTGGTACGTCCAGCCAGGAGGAGGAGCTCGCCATCCTCTTCAGGTTTGCCTTTCTGCCTCTGCCTATGAGTGGATTTTAGAAAGAAGATGGCTCCAAACGGGAGCGTTTTCTAATGATCTGCACCAAATAAGAATTATCAGGTGGAGAAATGGCATGCAGCTGGGATTTCTCCAATTAGATAGAGCAGGACTAGCTCTCCGGAATAGCAAATACTTACAGAACACTTACTATGTGCCAAGCACTATTCTAAGCCCCTTATAAGCAGTATCACACTTCATCTTATGATCCTCATTTTACAGATGAGAAAGCTGAGGAGCAGAGAGGCTAAGTAACTTCCACAGGGACACCTAACCGTGAAGGGAGATTCACACCTGCCTGGCTGGCTCCAGAATCTGCGCTCTTAACCCTTGCACCCTACTAACTCCCCTACCTATACATGCCAGTCTATGTGGGGTGATGTAAGGGGTGACTCCCACCCCTCTGACTTGCTCTGAAAAACCCATCATTAGGCACCCAGACTTATAGATCCTTAGCTCTAGAAGGAATATTGAGAATTATCTAGTGCAACTCCTCATTTCACATGAAGACACTTACTAAAAGGGTAAGTGAAGGTCCCACAGCTAATTGTTGCAGAACGGGGATGCAACATGCATTTTATGTCACCTGAAGTCTAGTTTGGAAAACAAAAGCCAACACAGTACTGCCCAAGGAGATAATAAAATACGCATCCACAAACTGGAAGGGATGTGTTTTTATTCTCATTGCCACATTGGCAGAGATTTATTTATTAATAGACTAGTAGGAAGTAGATAGAAGAATGGACAGCTAGATCATTAGAGATATGCTATGTGCCCTCGAGGAGCTGGGACACAGAAAAAGTAAGACTGGAAGAGAAAAGCAGCCAGAAAGGCAGGGAAGGAGGGGAGCTATTTTGAAAGGTACCAAAACAGAGATGCCAGGCGGCAGGAGGGAGCCACGTATCTAAGACGATTTTTGCTCACACTTTAGTTTCGTTTGTTTTGGGCTAGCTTTGGGTCCAGAACACACAAATAAACAGCAAATGGGTCTAATCAGGGGAATCCAAAAAGAAATAAATAAAGAAGCCCATGACAAATCGGTTGGTATCTTTGTGGGTTCCATCAGCTTCTTGACCTCTCTCAAAAGGCTAGCAATAGGGCAGACCGTGTCTTTATCCCACAGCCTAGGAAATGGAAAGTGCTCTGTGTGTCTCTGGAATTGATAAGAATGACTTGATTTTTCAGTTGAATGGTCAGGAAGTGGAATTGCCTTTTTTCCATCCTTCGGGGAAGCTGGAAATTTATCGAAACAAAAACAGTACGACAGTGGAGTCCAAGGGCGTGGTGACTGTCCAGTACTCAGACATAGGTCTATTGTACATCCGGCTGTCCACCACATACTTCAATTGCACAGGGGGCTTGTGCGGCTTCTACAATGCCAACGCCAGTGACGAGTTCTGTCTCCCCAACGGCAAGTGCACGGACAACCTGGCAGTGTTCCTGGAAAGCTGGACAACTTTCGAGGAGATCTGCAATGGAGAGTGTGGGGACCTGCTGAAGGCCTGCAACAATGACTCGGAGCTGCTCAAGTTTTATCGAAGCCGCTCCAGGTGCGGCATCATCAACGACCCCTCCAACAGCTCCTTCCTGGAGTGCCATGGGGTGGTGAACGTCACTGCCTATTACCGCACCTGCCTTTTCCGCCTGTGCCAGAGTGGGGGCAATGAGTCAGAGCTCTGTGACTCTGTGGCCCGGTATGCAAGCGCCTGCAAGAATGCGGACGTGGAGGTGGGGCCCTGGCGGACCTATGACTTCTGCCGTAAGTTGGGGTTGGATTCTGGGAGAGGCTTTCTAGCTGGGAAATAGGTGCCATGCTGGGCCTTACTCAGGACTTCCCTTCCAGGTGGGACTGAGCTCAAGGGTGATGTTAATTACTGTGTATACCTACCCTAGTCTGATGTGTCCTCCCAAAGACTCATCACCCCAAACN | pathogenic | 189,490 |
Benign or pathogenic: chromosome 11, position 121130051, gene TECTA variant? Disease(s) if pathogenic? | pathogenic; ['Hearing_impairment'] | CTGTGCGAGGAGGGCGGGGACGTCTACTGCTTCAACAAGACCTGCGGCAGCGGGGAGGTGTGCGCCGTGGAGGACGGCTACCAGGGCTGCTTCCCCAAGCGGGAGACCGTGTGCCTGCTCAGCCAGAACCAGGTGCTGCACACCTTTGACGGCGCCTCCTACGCCTTCCCCTCCGAGTTCTCCTACACCCTCCTGAAGACCTGCCCTGAGCGCCCAGAGTACTTGGAAATCGACATCAACAAGAAGAAGCCCGATGCAGGACCTGCTTGGCTGCGGGGACTTCGGATCCTGGTGGCCGACCAGGAGGTCAAGATAGGAGGCATCGGGGCTTCGGAAGTCAAGGTAAGGCTCCTTGCTCCTTTGGAGGGGTTCCTGGTACGTCCAGCCAGGAGGAGGAGCTCGCCATCCTCTTCAGGTTTGCCTTTCTGCCTCTGCCTATGAGTGGATTTTAGAAAGAAGATGGCTCCAAACGGGAGCGTTTTCTAATGATCTGCACCAAATAAGAATTATCAGGTGGAGAAATGGCATGCAGCTGGGATTTCTCCAATTAGATAGAGCAGGACTAGCTCTCCGGAATAGCAAATACTTACAGAACACTTACTATGTGCCAAGCACTATTCTAAGCCCCTTATAAGCAGTATCACACTTCATCTTATGATCCTCATTTTACAGATGAGAAAGCTGAGGAGCAGAGAGGCTAAGTAACTTCCACAGGGACACCTAACCGTGAAGGGAGATTCACACCTGCCTGGCTGGCTCCAGAATCTGCGCTCTTAACCCTTGCACCCTACTAACTCCCCTACCTATACATGCCAGTCTATGTGGGGTGATGTAAGGGGTGACTCCCACCCCTCTGACTTGCTCTGAAAAACCCATCATTAGGCACCCAGACTTATAGATCCTTAGCTCTAGAAGGAATATTGAGAATTATCTAGTGCAACTCCTCATTTCACATGAAGACACTTACTAAAAGGGTAAGTGAAGGTCCCACAGCTAATTGTTGCAGAACGGGGATGCAACATGCATTTTATGTCACCTGAAGTCTAGTTTGGAAAACAAAAGCCAACACAGTACTGCCCAAGGAGATAATAAAATACGCATCCACAAACTGGAAGGGATGTGTTTTTATTCTCATTGCCACATTGGCAGAGATTTATTTATTAATAGACTAGTAGGAAGTAGATAGAAGAATGGACAGCTAGATCATTAGAGATATGCTATGTGCCCTCGAGGAGCTGGGACACAGAAAAAGTAAGACTGGAAGAGAAAAGCAGCCAGAAAGGCAGGGAAGGAGGGGAGCTATTTTGAAAGGTACCAAAACAGAGATGCCAGGCGGCAGGAGGGAGCCACGTATCTAAGACGATTTTTGCTCACACTTTAGTTTCGTTTGTTTTGGGCTAGCTTTGGGTCCAGAACACACAAATAAACAGCAAATGGGTCTAATCAGGGGAATCCAAAAAGAAATAAATAAAGAAGCCCATGACAAATCGGTTGGTATCTTTGTGGGTTCCATCAGCTTCTTGACCTCTCTCAAAAGGCTAGCAATAGGGCAGACCGTGTCTTTATCCCACAGCCTAGGAAATGGAAAGTGCTCTGTGTGTCTCTGGAATTGATAAGAATGACTTGATTTTTCAGTTGAATGGTCAGGAAGTGGAATTGCCTTTTTTCCATCCTTCGGGGAAGCTGGAAATTTATCGAAACAAAAACAGTACGACAGTGGAGTCCAAGGGCGTGGTGACTGTCCAGTACTCAGACATAGGTCTATTGTACATCCGGCTGTCCACCACATACTTCAATTGCACAGGGGGCTTGTGCGGCTTCTACAATGCCAACGCCAGTGACGAGTTCTGTCTCCCCAACGGCAAGTGCACGGACAACCTGGCAGTGTTCCTGGAAAGCTGGACAACTTTCGAGGAGATCTGCAATGGAGAGTGTGGGGACCTGCTGAAGGCCTGCAACAATGACTCGGAGCTGCTCAAGTTTTATCGAAGCCGCTCCAGGTGCGGCATCATCAACGACCCCTCCAACAGCTCCTTCCTGGAGTGCCATGGGGTGGTGAACGTCACTGCCTATTACCGCACCTGCCTTTTCCGCCTGTGCCAGAGTGGGGGCAATGAGTCAGAGCTCTGTGACTCTGTGGCCCGGTATGCAAGCGCCTGCAAGAATGCGGACGTGGAGGTGGGGCCCTGGCGGACCTATGACTTCTGCCGTAAGTTGGGGTTGGATTCTGGGAGAGGCTTTCTAGCTGGGAAATAGGTGCCATGCTGGGCCTTACTCAGGACTTCCCTTCCAGGTGGGACTGAGCTCAAGGGTGATGTTAATTACTGTGTATACCTACCCTAGTCTGATGTGTCCTCCCAAAGACTCATCACCCCAAACCGGAGAGCCTCTCATCTTTACTTTTTTTCCTAACTGCACAGTACCTCCTCACTGCAGAACAATTAACCATCCTATTTGCATGTGGTTTTATCTAGCAGAGGGTAGAGGCACCATGTCAAAGGACTAGAAATCTTTGTGATGGCTCTGTAGGTGCCTTCTCCCTTGGCAAAGAAGAGCCCCATTGATTTTGATAGGAAGTGATCGGCCAGGGCACCTTTGGGGCATGGAGATTAGCATGCTCCCCAGGGCAAACCTGACAATGGGTATTAAGAGAGTCCTGTGTTGCTGGCTTTTAATTTTGTCCCGAAAGTATCTGACCCCTCTCAGCAATGCAGTGGCAAGTACTAGTAGTAATTAGAAAACTTTCTGGGAAGACCTGATACGTAACACCCTTGATTATCAGGGAAGCCACAGGGAGAAGTAACATGGCAGAAAGCAGGACTCACTCGTGGAGCAAGAACTGCCTCATCTGGCCTTCAGCACACAACCCTCTCCCACCACAAAGGTGGGCCCCACACCAAAGCCAAGGCCACCATTAAGATTCCATCCCCGGCCGGGCATGGTGGCTCACGCCTGGAATCCCAGCACTTTGGGAGGCAAAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGGGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGGGCCTGTGGTCCCAACTATTTGGAAGGCTGAGGCAGGAGAATCGCTTGTACCTGGGCTGCGGAGCTTGCAGTGAGCCCAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGATTCATCCCTGACGGCTATTTATCTGTCCTCCGTTTTTAATTGGCAAAAGTATTTTTTAATTTGAAATAATTTTAGACTTACAGAAAAGTTGCAGGAATAAGACAGTCTACCATTCTCTCAGATTCCCGAATCGTTAACATTGTAACACATTTTCTTTCTAATTTTGTCTCTGAAAATATACTCACTCTTTTTCTAAACCACTTGAGAGTAAGTTGCTGTCATTATGCCTGTTTGTACCTAAATATTTCAGTGTGTTTCCTAAGAATAAGCACATTTATATGACCATAACATAATCATTAAAATCAGGATATTGCCATTGATACAATACTATTATGTAATCTGAAGACCATGTTCATATTTTGTTAGTGGTTCCAATAATGTCTTTTACAGCCAAAACAAAAAACAAACCCTGGAATCCAATCCAGGATCACATGTTGCATCTTATTATGATGTCTCTGTAGACGCCTTTAATCTGGAGTAGGTCCTCAGTCTTTGACTTTCATTGTCTTAGCGTTCTTGAAGAGTACAGGCCAGTTATTTTGCAGACTGTTTCTCAGTTTGAGTTGGCTTATATTTCTTCCTGGTTCCATTGAAATTATGCATTTTTGGCAGGAATACCACAAAAGCAATGATGCGTCTTCTCAATGTGTCATATCTGGAGGCCTCTGATGTTGGTTTGTCCCGTTACACTGAGCATGATAGATTCGATCGCTTGCTTAAGGTAGTGTCTGTCAGATTTCTCCATTGAAAGTTACTGTTTTTTAATCATATAATTAATACATATTTTTCAGGGAAATACTTTAAATTTAGGTAGCTATTCTATTCCTTGAACTTGCATACACTAGATTTAGTATCCAGTG | CTGTGCGAGGAGGGCGGGGACGTCTACTGCTTCAACAAGACCTGCGGCAGCGGGGAGGTGTGCGCCGTGGAGGACGGCTACCAGGGCTGCTTCCCCAAGCGGGAGACCGTGTGCCTGCTCAGCCAGAACCAGGTGCTGCACACCTTTGACGGCGCCTCCTACGCCTTCCCCTCCGAGTTCTCCTACACCCTCCTGAAGACCTGCCCTGAGCGCCCAGAGTACTTGGAAATCGACATCAACAAGAAGAAGCCCGATGCAGGACCTGCTTGGCTGCGGGGACTTCGGATCCTGGTGGCCGACCAGGAGGTCAAGATAGGAGGCATCGGGGCTTCGGAAGTCAAGGTAAGGCTCCTTGCTCCTTTGGAGGGGTTCCTGGTACGTCCAGCCAGGAGGAGGAGCTCGCCATCCTCTTCAGGTTTGCCTTTCTGCCTCTGCCTATGAGTGGATTTTAGAAAGAAGATGGCTCCAAACGGGAGCGTTTTCTAATGATCTGCACCAAATAAGAATTATCAGGTGGAGAAATGGCATGCAGCTGGGATTTCTCCAATTAGATAGAGCAGGACTAGCTCTCCGGAATAGCAAATACTTACAGAACACTTACTATGTGCCAAGCACTATTCTAAGCCCCTTATAAGCAGTATCACACTTCATCTTATGATCCTCATTTTACAGATGAGAAAGCTGAGGAGCAGAGAGGCTAAGTAACTTCCACAGGGACACCTAACCGTGAAGGGAGATTCACACCTGCCTGGCTGGCTCCAGAATCTGCGCTCTTAACCCTTGCACCCTACTAACTCCCCTACCTATACATGCCAGTCTATGTGGGGTGATGTAAGGGGTGACTCCCACCCCTCTGACTTGCTCTGAAAAACCCATCATTAGGCACCCAGACTTATAGATCCTTAGCTCTAGAAGGAATATTGAGAATTATCTAGTGCAACTCCTCATTTCACATGAAGACACTTACTAAAAGGGTAAGTGAAGGTCCCACAGCTAATTGTTGCAGAACGGGGATGCAACATGCATTTTATGTCACCTGAAGTCTAGTTTGGAAAACAAAAGCCAACACAGTACTGCCCAAGGAGATAATAAAATACGCATCCACAAACTGGAAGGGATGTGTTTTTATTCTCATTGCCACATTGGCAGAGATTTATTTATTAATAGACTAGTAGGAAGTAGATAGAAGAATGGACAGCTAGATCATTAGAGATATGCTATGTGCCCTCGAGGAGCTGGGACACAGAAAAAGTAAGACTGGAAGAGAAAAGCAGCCAGAAAGGCAGGGAAGGAGGGGAGCTATTTTGAAAGGTACCAAAACAGAGATGCCAGGCGGCAGGAGGGAGCCACGTATCTAAGACGATTTTTGCTCACACTTTAGTTTCGTTTGTTTTGGGCTAGCTTTGGGTCCAGAACACACAAATAAACAGCAAATGGGTCTAATCAGGGGAATCCAAAAAGAAATAAATAAAGAAGCCCATGACAAATCGGTTGGTATCTTTGTGGGTTCCATCAGCTTCTTGACCTCTCTCAAAAGGCTAGCAATAGGGCAGACCGTGTCTTTATCCCACAGCCTAGGAAATGGAAAGTGCTCTGTGTGTCTCTGGAATTGATAAGAATGACTTGATTTTTCAGTTGAATGGTCAGGAAGTGGAATTGCCTTTTTTCCATCCTTCGGGGAAGCTGGAAATTTATCGAAACAAAAACAGTACGACAGTGGAGTCCAAGGGCGTGGTGACTGTCCAGTACTCAGACATAGGTCTATTGTACATCCGGCTGTCCACCACATACTTCAATTGCACAGGGGGCTTGTGCGGCTTCTACAATGCCAACGCCAGTGACGAGTTCTGTCTCCCCAACGGCAAGTGCACGGACAACCTGGCAGTGTTCCTGGAAAGCTGGACAACTTTCGAGGAGATCTGCAATGGAGAGTGTGGGGACCTGCTGAAGGCCTGCAACAATGACTCGGAGCTGCTCAAGTTTTATCGAAGCCGCTCCAGGTGCGGCATCATCAACGACCCCTCCAACAGCTCCTTCCTGGAGTGCCATGGGTGGTGAACGTCACTGCCTATTACCGCACCTGCCTTTTCCGCCTGTGCCAGAGTGGGGGCAATGAGTCAGAGCTCTGTGACTCTGTGGCCCGGTATGCAAGCGCCTGCAAGAATGCGGACGTGGAGGTGGGGCCCTGGCGGACCTATGACTTCTGCCGTAAGTTGGGGTTGGATTCTGGGAGAGGCTTTCTAGCTGGGAAATAGGTGCCATGCTGGGCCTTACTCAGGACTTCCCTTCCAGGTGGGACTGAGCTCAAGGGTGATGTTAATTACTGTGTATACCTACCCTAGTCTGATGTGTCCTCCCAAAGACTCATCACCCCAAACCGGAGAGCCTCTCATCTTTACTTTTTTTCCTAACTGCACAGTACCTCCTCACTGCAGAACAATTAACCATCCTATTTGCATGTGGTTTTATCTAGCAGAGGGTAGAGGCACCATGTCAAAGGACTAGAAATCTTTGTGATGGCTCTGTAGGTGCCTTCTCCCTTGGCAAAGAAGAGCCCCATTGATTTTGATAGGAAGTGATCGGCCAGGGCACCTTTGGGGCATGGAGATTAGCATGCTCCCCAGGGCAAACCTGACAATGGGTATTAAGAGAGTCCTGTGTTGCTGGCTTTTAATTTTGTCCCGAAAGTATCTGACCCCTCTCAGCAATGCAGTGGCAAGTACTAGTAGTAATTAGAAAACTTTCTGGGAAGACCTGATACGTAACACCCTTGATTATCAGGGAAGCCACAGGGAGAAGTAACATGGCAGAAAGCAGGACTCACTCGTGGAGCAAGAACTGCCTCATCTGGCCTTCAGCACACAACCCTCTCCCACCACAAAGGTGGGCCCCACACCAAAGCCAAGGCCACCATTAAGATTCCATCCCCGGCCGGGCATGGTGGCTCACGCCTGGAATCCCAGCACTTTGGGAGGCAAAGGCAGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGGGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGGGCCTGTGGTCCCAACTATTTGGAAGGCTGAGGCAGGAGAATCGCTTGTACCTGGGCTGCGGAGCTTGCAGTGAGCCCAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGATTCATCCCTGACGGCTATTTATCTGTCCTCCGTTTTTAATTGGCAAAAGTATTTTTTAATTTGAAATAATTTTAGACTTACAGAAAAGTTGCAGGAATAAGACAGTCTACCATTCTCTCAGATTCCCGAATCGTTAACATTGTAACACATTTTCTTTCTAATTTTGTCTCTGAAAATATACTCACTCTTTTTCTAAACCACTTGAGAGTAAGTTGCTGTCATTATGCCTGTTTGTACCTAAATATTTCAGTGTGTTTCCTAAGAATAAGCACATTTATATGACCATAACATAATCATTAAAATCAGGATATTGCCATTGATACAATACTATTATGTAATCTGAAGACCATGTTCATATTTTGTTAGTGGTTCCAATAATGTCTTTTACAGCCAAAACAAAAAACAAACCCTGGAATCCAATCCAGGATCACATGTTGCATCTTATTATGATGTCTCTGTAGACGCCTTTAATCTGGAGTAGGTCCTCAGTCTTTGACTTTCATTGTCTTAGCGTTCTTGAAGAGTACAGGCCAGTTATTTTGCAGACTGTTTCTCAGTTTGAGTTGGCTTATATTTCTTCCTGGTTCCATTGAAATTATGCATTTTTGGCAGGAATACCACAAAAGCAATGATGCGTCTTCTCAATGTGTCATATCTGGAGGCCTCTGATGTTGGTTTGTCCCGTTACACTGAGCATGATAGATTCGATCGCTTGCTTAAGGTAGTGTCTGTCAGATTTCTCCATTGAAAGTTACTGTTTTTTAATCATATAATTAATACATATTTTTCAGGGAAATACTTTAAATTTAGGTAGCTATTCTATTCCTTGAACTTGCATACACTAGATTTAGTATCCAGTGN | pathogenic | 189,498 |
Subsets and Splits
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