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 |
|---|---|---|---|---|---|
Chromosome 9, position 108880103, gene ELP1 (elongator acetyltransferase complex subunit 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma'] | CAACTGCAGCGTATCTTCAAAGGCCTTCTGTAATTCCCTTCCTTGTTCATCAAACTCAAAGAGAAAGAGTACCTTTAAAATATGGTATACTTCATCTAGAGAGAAGAAATTTGAAAGAGTGGTAAGTTATATTCCCAGCTCCATTGACAGAATCATACATAGCTTCTATCCAAAGCCAAAAATTTCTATGATCCCACTGCAGGTCCTTTCTCCCACATTATCTTTTTTCTTCCCAAATGCTGGAATAATTAAACACATGTACTACAAAAAGAAAATCAAGCACGCTGGGGGGCCTACGCAGAAAGCAGTGTCCCACAATT... | CAACTGCAGCGTATCTTCAAAGGCCTTCTGTAATTCCCTTCCTTGTTCATCAAACTCAAAGAGAAAGAGTACCTTTAAAATATGGTATACTTCATCTAGAGAGAAGAAATTTGAAAGAGTGGTAAGTTATATTCCCAGCTCCATTGACAGAATCATACATAGCTTCTATCCAAAGCCAAAAATTTCTATGATCCCACTGCAGGTCCTTTCTCCCACATTATCTTTTTTCTTCCCAAATGCTGGAATAATTAAACACATGTACTACAAAAAGAAAATCAAGCACGCTGGGGGGCCTACGCAGAAAGCAGTGTCCCACAATT... | pathogenic | 148,805 |
Clinical impact (benign or pathogenic) of the variant at chromosome 9, location 108880126, gene ELP1 (elongator acetyltransferase complex subunit 1): what disease(s) if pathogenic? | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma'] | CCTTCTGTAATTCCCTTCCTTGTTCATCAAACTCAAAGAGAAAGAGTACCTTTAAAATATGGTATACTTCATCTAGAGAGAAGAAATTTGAAAGAGTGGTAAGTTATATTCCCAGCTCCATTGACAGAATCATACATAGCTTCTATCCAAAGCCAAAAATTTCTATGATCCCACTGCAGGTCCTTTCTCCCACATTATCTTTTTTCTTCCCAAATGCTGGAATAATTAAACACATGTACTACAAAAAGAAAATCAAGCACGCTGGGGGGCCTACGCAGAAAGCAGTGTCCCACAATTCTTTATCCTGGCCTAAGCATCTC... | CCTTCTGTAATTCCCTTCCTTGTTCATCAAACTCAAAGAGAAAGAGTACCTTTAAAATATGGTATACTTCATCTAGAGAGAAGAAATTTGAAAGAGTGGTAAGTTATATTCCCAGCTCCATTGACAGAATCATACATAGCTTCTATCCAAAGCCAAAAATTTCTATGATCCCACTGCAGGTCCTTTCTCCCACATTATCTTTTTTCTTCCCAAATGCTGGAATAATTAAACACATGTACTACAAAAAGAAAATCAAGCACGCTGGGGGGCCTACGCAGAAAGCAGTGTCCCACAATTCTTTATCCTGGCCTAAGCATCTC... | pathogenic | 148,806 |
Classify the chromosome 9 variant at position 108880133 affecting gene ELP1 (elongator acetyltransferase complex subunit 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma'] | TAATTCCCTTCCTTGTTCATCAAACTCAAAGAGAAAGAGTACCTTTAAAATATGGTATACTTCATCTAGAGAGAAGAAATTTGAAAGAGTGGTAAGTTATATTCCCAGCTCCATTGACAGAATCATACATAGCTTCTATCCAAAGCCAAAAATTTCTATGATCCCACTGCAGGTCCTTTCTCCCACATTATCTTTTTTCTTCCCAAATGCTGGAATAATTAAACACATGTACTACAAAAAGAAAATCAAGCACGCTGGGGGGCCTACGCAGAAAGCAGTGTCCCACAATTCTTTATCCTGGCCTAAGCATCTCTCCCAGT... | TAATTCCCTTCCTTGTTCATCAAACTCAAAGAGAAAGAGTACCTTTAAAATATGGTATACTTCATCTAGAGAGAAGAAATTTGAAAGAGTGGTAAGTTATATTCCCAGCTCCATTGACAGAATCATACATAGCTTCTATCCAAAGCCAAAAATTTCTATGATCCCACTGCAGGTCCTTTCTCCCACATTATCTTTTTTCTTCCCAAATGCTGGAATAATTAAACACATGTACTACAAAAAGAAAATCAAGCACGCTGGGGGGCCTACGCAGAAAGCAGTGTCCCACAATTCTTTATCCTGGCCTAAGCATCTCTCCCAGT... | pathogenic | 148,807 |
Evaluate the clinical significance of the mutation at chromosome 9, position 108894023 in gene ELP1 (elongator acetyltransferase complex subunit 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma'] | GTGGAAGAGAACAGAAAACAAGGGCAAAGAGGTAGCCACTGGCCAAATCCTCGATTCTCCAGGCTGGATGTTAGCCAGAGATTCAGAGAGGAATACAACATGGAGTCCCTGCCCTTAAGGAGCCCACAGCCTGGTGGAGGCGACAAACCAGCTAATCAGCAGTTTGACAAATGCAATCACCAAGGCGAGGGCAGGCTGCTCTGGGGGCTCAGTGTTTGGCGCCTGGTCCAGGAATGGCATTCAGGAGTAACCCAAGGGTTCTGATGGACAAATGGGGCTAAAGGAAGGCTGGTGGGTAGAGAAATGACAGAGGAATCACA... | GTGGAAGAGAACAGAAAACAAGGGCAAAGAGGTAGCCACTGGCCAAATCCTCGATTCTCCAGGCTGGATGTTAGCCAGAGATTCAGAGAGGAATACAACATGGAGTCCCTGCCCTTAAGGAGCCCACAGCCTGGTGGAGGCGACAAACCAGCTAATCAGCAGTTTGACAAATGCAATCACCAAGGCGAGGGCAGGCTGCTCTGGGGGCTCAGTGTTTGGCGCCTGGTCCAGGAATGGCATTCAGGAGTAACCCAAGGGTTCTGATGGACAAATGGGGCTAAAGGAAGGCTGGTGGGTAGAGAAATGACAGAGGAATCACA... | pathogenic | 148,842 |
Evaluate if the mutation on chromosome 9 at position 108896654 in ELP1 (elongator acetyltransferase complex subunit 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | CACAGTATCATTTATTTCATAGGCTAATAAGGGAAATAAGGTTTCAGTCTAGAAGATATTCAACAAATGCATCTAAGTTTCTCCTAAAAGTCTAAGACATTGCTCTTGGTGCTGTTTTCATGACATTCCATGCTCTCCTGAAATGATCACATTAAAACAAACATAAAATTATACTGAGTTGGACACAAAACTCTGAGACCCTGCCAACCTAGTATTTATTGGCACTATCATCTCCAGCTCTATGCCATGCCCTGTAAGCAAATTGTTTTTCTTCCTAATGGAGAGGTGTTTCCTGTTTTTAATGCAATTTCCCTGGGCTG... | CACAGTATCATTTATTTCATAGGCTAATAAGGGAAATAAGGTTTCAGTCTAGAAGATATTCAACAAATGCATCTAAGTTTCTCCTAAAAGTCTAAGACATTGCTCTTGGTGCTGTTTTCATGACATTCCATGCTCTCCTGAAATGATCACATTAAAACAAACATAAAATTATACTGAGTTGGACACAAAACTCTGAGACCCTGCCAACCTAGTATTTATTGGCACTATCATCTCCAGCTCTATGCCATGCCCTGTAAGCAAATTGTTTTTCTTCCTAATGGAGAGGTGTTTCCTGTTTTTAATGCAATTTCCCTGGGCTG... | benign | 148,847 |
Benign or pathogenic: chromosome 9, position 108897149, gene ELP1 (elongator acetyltransferase complex subunit 1) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_dysautonomia', 'likely other unspecified diseases'] | TAGCCGGGCATGGTGGTGCACGCCTGTAAGCTGAGGTGAGATTGCTTGAGCCTAGGAGGCGTAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCCGGGTGATAGAGCCCGACCTTGTCTCAAAAATAAATAAATAAATACCGCACTCTAGATAAAGACACACTGTAGTCTGCAGGGGTAGGCACTGTGTGCAACAGAAGCATATAGGAGGGTCACCTCACCCAGTCCCTGGAGGGAAGCATGAATGGCTTACTGGGAAGAGGCCACCTTGGCATCCTTTAACCTAGATTAGTGAGAATTAGCCAGGGGAATG... | TAGCCGGGCATGGTGGTGCACGCCTGTAAGCTGAGGTGAGATTGCTTGAGCCTAGGAGGCGTAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCCGGGTGATAGAGCCCGACCTTGTCTCAAAAATAAATAAATAAATACCGCACTCTAGATAAAGACACACTGTAGTCTGCAGGGGTAGGCACTGTGTGCAACAGAAGCATATAGGAGGGTCACCTCACCCAGTCCCTGGAGGGAAGCATGAATGGCTTACTGGGAAGAGGCCACCTTGGCATCCTTTAACCTAGATTAGTGAGAATTAGCCAGGGGAATG... | pathogenic | 148,859 |
Is the chromosome 9, position 108898539 variant in ELP1 (elongator acetyltransferase complex subunit 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma', 'likely other unspecified diseases'] | CATACCTTCTGTGACTTCTCAGCTACCATGAGGACCAAATCAAAGTCATAGGTGCCAAGAGAATGATCATATAATTCATTAACATCTACCAGATGCAGCAAATATTTCAAGGCCTCTTCAGCACTCACAGCATCAGGATCAGAGGGAGCATTTCCTAACAGTGTTTAGAAAACAAAACAGAACACAATCATTTGGGGAAAAAATCCACAGACCTAACAACATAACCAAAAAGACAATAAATTTTTCTCAATAGAACTGGACATCAGAAGAATATATACTTCTGATACTTTTATATATGCTTTAGAGGGCAGCACTGAAAA... | CATACCTTCTGTGACTTCTCAGCTACCATGAGGACCAAATCAAAGTCATAGGTGCCAAGAGAATGATCATATAATTCATTAACATCTACCAGATGCAGCAAATATTTCAAGGCCTCTTCAGCACTCACAGCATCAGGATCAGAGGGAGCATTTCCTAACAGTGTTTAGAAAACAAAACAGAACACAATCATTTGGGGAAAAAATCCACAGACCTAACAACATAACCAAAAAGACAATAAATTTTTCTCAATAGAACTGGACATCAGAAGAATATATACTTCTGATACTTTTATATATGCTTTAGAGGGCAGCACTGAAAA... | pathogenic | 148,867 |
Is the genetic variant on chromosome 9, position 108898655, gene ELP1 (elongator acetyltransferase complex subunit 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TTCAGCACTCACAGCATCAGGATCAGAGGGAGCATTTCCTAACAGTGTTTAGAAAACAAAACAGAACACAATCATTTGGGGAAAAAATCCACAGACCTAACAACATAACCAAAAAGACAATAAATTTTTCTCAATAGAACTGGACATCAGAAGAATATATACTTCTGATACTTTTATATATGCTTTAGAGGGCAGCACTGAAAAAAACTGACAAGGGTCTTAAAATGGCAACTAAAAAGTCACATGTTAAATCTGTGGTGTGGCAATGACATGGTGATTGTCACCTGCAGAAGACTAGTAGCAGTCACGGCCACCTTAAG... | TTCAGCACTCACAGCATCAGGATCAGAGGGAGCATTTCCTAACAGTGTTTAGAAAACAAAACAGAACACAATCATTTGGGGAAAAAATCCACAGACCTAACAACATAACCAAAAAGACAATAAATTTTTCTCAATAGAACTGGACATCAGAAGAATATATACTTCTGATACTTTTATATATGCTTTAGAGGGCAGCACTGAAAAAAACTGACAAGGGTCTTAAAATGGCAACTAAAAAGTCACATGTTAAATCTGTGGTGTGGCAATGACATGGTGATTGTCACCTGCAGAAGACTAGTAGCAGTCACGGCCACCTTAAG... | benign | 148,871 |
Evaluate this variant at chromosome 9, position 108900313, gene ELP1 (elongator acetyltransferase complex subunit 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_dysautonomia'] | CCTAAAAATCAAGTGAAATAATAATTCTGAATGACATGTTTTAAGGACATAGTTTTAAACAGGCTGTTTTAAAAAGAACGGAAAAGAGCAAAAAACCAACTGGCATCTAAGAGTTATAGCAATTTTTAAAAATGAACAGTAAGGAATTTTTCTTCTCTAGCTATTTATGCTTGATTTCCTTAACAAGAAGAGAGAAAACTATGGAAAAGATACACATGAATTATTCAAAATACTTACTTCAATTCTGTAAAAAACAAGTTAATATGATTCACAGAATCTATCTGTTTAATGAAGGTTTCCACATTTCCAAGAAACACCTA... | CCTAAAAATCAAGTGAAATAATAATTCTGAATGACATGTTTTAAGGACATAGTTTTAAACAGGCTGTTTTAAAAAGAACGGAAAAGAGCAAAAAACCAACTGGCATCTAAGAGTTATAGCAATTTTTAAAAATGAACAGTAAGGAATTTTTCTTCTCTAGCTATTTATGCTTGATTTCCTTAACAAGAAGAGAGAAAACTATGGAAAAGATACACATGAATTATTCAAAATACTTACTTCAATTCTGTAAAAAACAAGTTAATATGATTCACAGAATCTATCTGTTTAATGAAGGTTTCCACATTTCCAAGAAACACCTA... | pathogenic | 148,886 |
The mutation in gene ELP1 (elongator acetyltransferase complex subunit 1) at chromosome 9, position 108902940—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma'] | CCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACAGAGATAGATAGGGCATGGAACAGAAGACAAAATGCAGCCAATATCCTACAAACCACTAGATGGAGCGCAGATGTACAGTGGAGGGTGGGCACAGTGGGAAAAGACTACACAGAAGGTAAAACATTGGGGATCTACATAGTAATTCCAAATAAAATATTAGATCAGTTACATAATAAAATTTCCTGAAAAGTTTTTAACTTTAGAATGTGCTGCTTAAGGAAGGA... | CCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACATACACGCCACACACACAGAGATAGATAGGGCATGGAACAGAAGACAAAATGCAGCCAATATCCTACAAACCACTAGATGGAGCGCAGATGTACAGTGGAGGGTGGGCACAGTGGGAAAAGACTACACAGAAGGTAAAACATTGGGGATCTACATAGTAATTCCAAATAAAATATTAGATCAGTTACATAATAAAATTTCCTGAAAAGTTTTTAACTTTAGAATGTGCTGCTTAAGGAAGGA... | pathogenic | 148,902 |
Variant chromosome 9, position 108903674, gene ELP1 (elongator acetyltransferase complex subunit 1): benign or pathogenic? Disease(s)? | benign | ACCTCAATGTCATTGATGAAAAAGCGACACCTGTCAGTCAGACCAAGGACACATTCCTGCAAAGAAATAAAACTGAAATCACAAGCAATTCTATCTCAAATCAGTTAAACCTACCTTTTCTATCACATAGTTCTACCACCCTATGATTTCACACCTAAGTTCCTGTAATCAGGACTAAAGATAGATACCTAAGACGTGGCTGGTCCAGTGCAAAATGGAATGTGAAGCCATCCAATCCATCAGTGAGCCCTGACATCTCCATCTCCTACACATATCTCAAACCCATCTCCTTTTTCCCCTCACTAACTCCACTCAACCGG... | ACCTCAATGTCATTGATGAAAAAGCGACACCTGTCAGTCAGACCAAGGACACATTCCTGCAAAGAAATAAAACTGAAATCACAAGCAATTCTATCTCAAATCAGTTAAACCTACCTTTTCTATCACATAGTTCTACCACCCTATGATTTCACACCTAAGTTCCTGTAATCAGGACTAAAGATAGATACCTAAGACGTGGCTGGTCCAGTGCAAAATGGAATGTGAAGCCATCCAATCCATCAGTGAGCCCTGACATCTCCATCTCCTACACATATCTCAAACCCATCTCCTTTTTCCCCTCACTAACTCCACTCAACCGG... | benign | 148,907 |
A genetic alteration at chromosome 9, position 108903681, in gene ELP1 (elongator acetyltransferase complex subunit 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TGTCATTGATGAAAAAGCGACACCTGTCAGTCAGACCAAGGACACATTCCTGCAAAGAAATAAAACTGAAATCACAAGCAATTCTATCTCAAATCAGTTAAACCTACCTTTTCTATCACATAGTTCTACCACCCTATGATTTCACACCTAAGTTCCTGTAATCAGGACTAAAGATAGATACCTAAGACGTGGCTGGTCCAGTGCAAAATGGAATGTGAAGCCATCCAATCCATCAGTGAGCCCTGACATCTCCATCTCCTACACATATCTCAAACCCATCTCCTTTTTCCCCTCACTAACTCCACTCAACCGGTGTTGAT... | TGTCATTGATGAAAAAGCGACACCTGTCAGTCAGACCAAGGACACATTCCTGCAAAGAAATAAAACTGAAATCACAAGCAATTCTATCTCAAATCAGTTAAACCTACCTTTTCTATCACATAGTTCTACCACCCTATGATTTCACACCTAAGTTCCTGTAATCAGGACTAAAGATAGATACCTAAGACGTGGCTGGTCCAGTGCAAAATGGAATGTGAAGCCATCCAATCCATCAGTGAGCCCTGACATCTCCATCTCCTACACATATCTCAAACCCATCTCCTTTTTCCCCTCACTAACTCCACTCAACCGGTGTTGAT... | benign | 148,908 |
A genetic variant on chromosome 9, position 108908358, affects the gene ELP1 (elongator acetyltransferase complex subunit 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma'] | TGAGCTGTCCATGCTCTTCATCCATCTCAGAAGAAGCTGCAGTCAAATGGTGAATGACAGACCGGGGGCTGAACTCACTGTGGCTTACAGCCAGGAAGACGTCTTCTTCAATCCAAGTGAGAAGGCCTAGTTTCAGCGGGTTTACATCTTGATCTTCATTATTCTCAAACTGGATTCTATTGTAAATATTGAAGAATATCCAAGACATGAATAAAACTTAAAAACCACTGAGACGTTCCTGGATGAAGGAAGACTGAAGCATCTTGTATACAGTCCACTCCTAATTATTTGGAGGGACAAAACCTGAGATACTACCAAAT... | TGAGCTGTCCATGCTCTTCATCCATCTCAGAAGAAGCTGCAGTCAAATGGTGAATGACAGACCGGGGGCTGAACTCACTGTGGCTTACAGCCAGGAAGACGTCTTCTTCAATCCAAGTGAGAAGGCCTAGTTTCAGCGGGTTTACATCTTGATCTTCATTATTCTCAAACTGGATTCTATTGTAAATATTGAAGAATATCCAAGACATGAATAAAACTTAAAAACCACTGAGACGTTCCTGGATGAAGGAAGACTGAAGCATCTTGTATACAGTCCACTCCTAATTATTTGGAGGGACAAAACCTGAGATACTACCAAAT... | pathogenic | 148,922 |
Is the genetic variant on chromosome 9, position 108911100, gene ELP1 (elongator acetyltransferase complex subunit 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Medulloblastoma'] | GACGCTCTTACCCCAGATGTCTGCGTGGCTCCCACTGTGATTCTCACCAGGTCTCTGCTTCAATGTCACCTTCACAGAGAGGCCTTTGGGATCACACTAAATAGGAAAGACACCTTCCCCCTGTAAACCCTTATCCTTAAGCTCTCCCTACCCCTTATTTTGCTTAATTTTTCTCCACAGCACTTGCCATCTGATAGATCATATTTAATTGATATCTTTTGTCTACACCTAGAACAACAAGTTGTAGACAAAGTACAACTAGTTTTCTAGTACAACAAGCCAAGTACTAGAAAAAAGCCTGGCATATAATAAACAATCAA... | GACGCTCTTACCCCAGATGTCTGCGTGGCTCCCACTGTGATTCTCACCAGGTCTCTGCTTCAATGTCACCTTCACAGAGAGGCCTTTGGGATCACACTAAATAGGAAAGACACCTTCCCCCTGTAAACCCTTATCCTTAAGCTCTCCCTACCCCTTATTTTGCTTAATTTTTCTCCACAGCACTTGCCATCTGATAGATCATATTTAATTGATATCTTTTGTCTACACCTAGAACAACAAGTTGTAGACAAAGTACAACTAGTTTTCTAGTACAACAAGCCAAGTACTAGAAAAAAGCCTGGCATATAATAAACAATCAA... | pathogenic | 148,927 |
Benign or pathogenic: chromosome 9, position 108912298, gene ELP1 (elongator acetyltransferase complex subunit 1) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma'] | CAGATAGGATCCATGTACACAGTGGGCTGCTGACTTAACAGAAAAGCTGATATGAAAGTAAGGACTTCCCATTTAAATTAATTAATTTTGATTATTCTCTCTTGGCAACTATCTAGGCTTTTTCTGAGAATTCAAAAGATATTTGAAAACAAGGCTAACACTGCCATATGCCAGCAGAATTTATGACATAACCACAGAACTCACAAGTAAAAACAAATTTCAGATTCTCCAGCACATCAGGAAAGTAATGAAGAACTGACAGCAATGGGGCTGTGGCAGGACAAGTGGATTAGGAGCTAGAACACCTGTGTTGAGGTCCT... | CAGATAGGATCCATGTACACAGTGGGCTGCTGACTTAACAGAAAAGCTGATATGAAAGTAAGGACTTCCCATTTAAATTAATTAATTTTGATTATTCTCTCTTGGCAACTATCTAGGCTTTTTCTGAGAATTCAAAAGATATTTGAAAACAAGGCTAACACTGCCATATGCCAGCAGAATTTATGACATAACCACAGAACTCACAAGTAAAAACAAATTTCAGATTCTCCAGCACATCAGGAAAGTAATGAAGAACTGACAGCAATGGGGCTGTGGCAGGACAAGTGGATTAGGAGCTAGAACACCTGTGTTGAGGTCCT... | pathogenic | 148,937 |
Mutation at chromosome 9, position 108916184, within ELP1 (elongator acetyltransferase complex subunit 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACGAGATGGAGATCGAGACCATCCTGGCTAACGCGGTGAAACCCTGCCTCTACCAAAAATACAAAAAATTAGCCAGGCTTGGTGGCGGGCGCCTGTAGACCCAGCTACTCGGGAAGCTGAGGCAGGAAAATGGAGTGAACCCGGGAGGCAGAGCTTGCAGTGACCGAGATCGGGCCACTGCACTCCAGCCTGGGGGAAAGAGAGAGACTCCGTCTCCAAAAAAAAAAAAAAAGGGGGGGGGGGTTCTACTGATTAAAGAGTTTGAAAGCTACTT... | TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACGAGATGGAGATCGAGACCATCCTGGCTAACGCGGTGAAACCCTGCCTCTACCAAAAATACAAAAAATTAGCCAGGCTTGGTGGCGGGCGCCTGTAGACCCAGCTACTCGGGAAGCTGAGGCAGGAAAATGGAGTGAACCCGGGAGGCAGAGCTTGCAGTGACCGAGATCGGGCCACTGCACTCCAGCCTGGGGGAAAGAGAGAGACTCCGTCTCCAAAAAAAAAAAAAAAGGGGGGGGGGGTTCTACTGATTAAAGAGTTTGAAAGCTACTT... | benign | 148,946 |
Chromosome 9, position 108916196, gene ELP1 (elongator acetyltransferase complex subunit 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_dysautonomia'] | TCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACGAGATGGAGATCGAGACCATCCTGGCTAACGCGGTGAAACCCTGCCTCTACCAAAAATACAAAAAATTAGCCAGGCTTGGTGGCGGGCGCCTGTAGACCCAGCTACTCGGGAAGCTGAGGCAGGAAAATGGAGTGAACCCGGGAGGCAGAGCTTGCAGTGACCGAGATCGGGCCACTGCACTCCAGCCTGGGGGAAAGAGAGAGACTCCGTCTCCAAAAAAAAAAAAAAAGGGGGGGGGGGTTCTACTGATTAAAGAGTTTGAAAGCTACTTAGAAAATAATCA... | TCCCAGCACTTTGGGAGGCCGAGACGGGCAGATCACGAGATGGAGATCGAGACCATCCTGGCTAACGCGGTGAAACCCTGCCTCTACCAAAAATACAAAAAATTAGCCAGGCTTGGTGGCGGGCGCCTGTAGACCCAGCTACTCGGGAAGCTGAGGCAGGAAAATGGAGTGAACCCGGGAGGCAGAGCTTGCAGTGACCGAGATCGGGCCACTGCACTCCAGCCTGGGGGAAAGAGAGAGACTCCGTCTCCAAAAAAAAAAAAAAAGGGGGGGGGGGTTCTACTGATTAAAGAGTTTGAAAGCTACTTAGAAAATAATCA... | pathogenic | 148,947 |
Is the genetic change at chromosome 9, position 108917684, within gene ELP1 (elongator acetyltransferase complex subunit 1) benign or pathogenic? Name the disease(s) if pathogenic. | benign | ACACTCTATTACTCTCTCTCCCTCCCGCCCCACCCTATTCCCTCTCTCACCGTCTCTCTATGTAAGTACAGCTGACCCTTGAACAACACAGGCTTGAACTACACAGGTCCATTTATATTCGTATTTTTTTCAATGAATACAGTCGGCCCTTCATATTGTGGATTCTATACCCGCAACCAAACGCACATCAAAAATATGGTACTTGAGGAATGCAAAACCCAAGTATACAAAAGGCTGACTTTTCATATCTGAGTGTTCTGCAGGGTTGACTGCAGGACTTGACCATGTGTGGATTTTGGCGTCCATGGGCAATCCTAGAA... | ACACTCTATTACTCTCTCTCCCTCCCGCCCCACCCTATTCCCTCTCTCACCGTCTCTCTATGTAAGTACAGCTGACCCTTGAACAACACAGGCTTGAACTACACAGGTCCATTTATATTCGTATTTTTTTCAATGAATACAGTCGGCCCTTCATATTGTGGATTCTATACCCGCAACCAAACGCACATCAAAAATATGGTACTTGAGGAATGCAAAACCCAAGTATACAAAAGGCTGACTTTTCATATCTGAGTGTTCTGCAGGGTTGACTGCAGGACTTGACCATGTGTGGATTTTGGCGTCCATGGGCAATCCTAGAA... | benign | 148,959 |
Mutation found at chromosome 9 position 108918839, gene ELP1 (elongator acetyltransferase complex subunit 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma'] | TACTGAAAGTGAGTAATAGTTACATGGGAGTTCATTAAACTCGTCTCTCAACTTAGGATGTTTAAAATTTTACACAGAGATACCATTTGATGTGTTCTCACTTCAGCAAGAATCTTAATGGTATACAAACCACTTAAGATTTAAATGTTATAAATGAAAAACATCTTCATTACTGGAAAAATTATGCTTTTGTCAAAATAAACAATAAAAACTAGCATTTTTATTTCCTACTTCTGTTTTATCTAAGGTGGGGGACAAATGCTATTATTTGCAAAATCACTGGAAAAACAATATTTTATTAAATAAAAATCAGTTCTAGG... | TACTGAAAGTGAGTAATAGTTACATGGGAGTTCATTAAACTCGTCTCTCAACTTAGGATGTTTAAAATTTTACACAGAGATACCATTTGATGTGTTCTCACTTCAGCAAGAATCTTAATGGTATACAAACCACTTAAGATTTAAATGTTATAAATGAAAAACATCTTCATTACTGGAAAAATTATGCTTTTGTCAAAATAAACAATAAAAACTAGCATTTTTATTTCCTACTTCTGTTTTATCTAAGGTGGGGGACAAATGCTATTATTTGCAAAATCACTGGAAAAACAATATTTTATTAAATAAAAATCAGTTCTAGG... | pathogenic | 148,962 |
A genetic variant at chromosome 9, position 108918872, affecting gene ELP1 (elongator acetyltransferase complex subunit 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma'] | ATTAAACTCGTCTCTCAACTTAGGATGTTTAAAATTTTACACAGAGATACCATTTGATGTGTTCTCACTTCAGCAAGAATCTTAATGGTATACAAACCACTTAAGATTTAAATGTTATAAATGAAAAACATCTTCATTACTGGAAAAATTATGCTTTTGTCAAAATAAACAATAAAAACTAGCATTTTTATTTCCTACTTCTGTTTTATCTAAGGTGGGGGACAAATGCTATTATTTGCAAAATCACTGGAAAAACAATATTTTATTAAATAAAAATCAGTTCTAGGAAGCCACCATTTTTATTACTATTTACTCTAAAG... | ATTAAACTCGTCTCTCAACTTAGGATGTTTAAAATTTTACACAGAGATACCATTTGATGTGTTCTCACTTCAGCAAGAATCTTAATGGTATACAAACCACTTAAGATTTAAATGTTATAAATGAAAAACATCTTCATTACTGGAAAAATTATGCTTTTGTCAAAATAAACAATAAAAACTAGCATTTTTATTTCCTACTTCTGTTTTATCTAAGGTGGGGGACAAATGCTATTATTTGCAAAATCACTGGAAAAACAATATTTTATTAAATAAAAATCAGTTCTAGGAAGCCACCATTTTTATTACTATTTACTCTAAAG... | pathogenic | 148,963 |
Is the chromosome 9, position 108919260 variant in ELP1 (elongator acetyltransferase complex subunit 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma', 'likely other unspecified diseases'] | AATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGCTGTGGTGGCGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAACCGAGATTGCACTATCGCACTCCAACCTGGGCAACAAGAATGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTCCCTCTATAGCTATGGAAAGTCCTCTACATTCGAGGGTGAAACA... | AATCCCAGCACTTTGGGAGGCAGAGGCGGGTGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGACCAACACGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGCTGTGGTGGCGCAAGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTAGGAGGCGGAGGTTGCAGTGAACCGAGATTGCACTATCGCACTCCAACCTGGGCAACAAGAATGAAACTCCATCTCAAAAAAAAAAAAAAAAAATTCCCTCTATAGCTATGGAAAGTCCTCTACATTCGAGGGTGAAACA... | pathogenic | 148,966 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 9, position 108929816, gene ELP1 (elongator acetyltransferase complex subunit 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_dysautonomia'] | GTGAAATAAACCAGACACAAAAAGACAAACATCACATGTTCTCACTTATTTGTGCGATCTAAAAATCAAAACAATTGAACTCACGGACACAGAGAGTACAAGGATGGTTACCAGAGGCTGGGAAGGGTAGTGAGGGGCTGAGGGAAGTTGGGATGGTTAATAGGTACAAAAAAAAATAGAATAAATAAGACCTGCTATTTGATAGCACAACAAGGTAACTACAGTCAACAGTAATTGCACATTTTAAAATAACTAAAAGACTGTAATTGGATTGTTTGTAACACAAAGGATAAACGCTTGATGGGATGGATATCCTATTC... | GTGAAATAAACCAGACACAAAAAGACAAACATCACATGTTCTCACTTATTTGTGCGATCTAAAAATCAAAACAATTGAACTCACGGACACAGAGAGTACAAGGATGGTTACCAGAGGCTGGGAAGGGTAGTGAGGGGCTGAGGGAAGTTGGGATGGTTAATAGGTACAAAAAAAAATAGAATAAATAAGACCTGCTATTTGATAGCACAACAAGGTAACTACAGTCAACAGTAATTGCACATTTTAAAATAACTAAAAGACTGTAATTGGATTGTTTGTAACACAAAGGATAAACGCTTGATGGGATGGATATCCTATTC... | pathogenic | 148,986 |
Clinical significance of chromosome 9, position 108931008, gene ELP1 (elongator acetyltransferase complex subunit 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Medulloblastoma'] | GTGCCTTAACTGCCTCTTCTGAAGAATAGGAAACAACAACCTACTGCATAAGGTCATGGTGAAGATTAAATAAATTTGCATGAAAAGCACTTTAAAAAGTGCCAGGCACATGATAGTTAATAAATGTAAGCTGCTATCATTATCCTACTATTAGTAATACTCTAACTTCTGTGACATAATCAATGTTAAGGAGATCACAACTAATGAAGTAATGGAAGAAGATTTAAAGAATCAGCCAAGTGTAATTTGAAACCCTTGCTGTTAAGAAGGTGAGGATAGAAATCAGAAACTCAACTATACACTAAAGTAGAGAAAGAAGC... | GTGCCTTAACTGCCTCTTCTGAAGAATAGGAAACAACAACCTACTGCATAAGGTCATGGTGAAGATTAAATAAATTTGCATGAAAAGCACTTTAAAAAGTGCCAGGCACATGATAGTTAATAAATGTAAGCTGCTATCATTATCCTACTATTAGTAATACTCTAACTTCTGTGACATAATCAATGTTAAGGAGATCACAACTAATGAAGTAATGGAAGAAGATTTAAAGAATCAGCCAAGTGTAATTTGAAACCCTTGCTGTTAAGAAGGTGAGGATAGAAATCAGAAACTCAACTATACACTAAAGTAGAGAAAGAAGC... | pathogenic | 148,991 |
A genetic alteration at chromosome 9, position 108931049, in gene ELP1 (elongator acetyltransferase complex subunit 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_dysautonomia'] | TACTGCATAAGGTCATGGTGAAGATTAAATAAATTTGCATGAAAAGCACTTTAAAAAGTGCCAGGCACATGATAGTTAATAAATGTAAGCTGCTATCATTATCCTACTATTAGTAATACTCTAACTTCTGTGACATAATCAATGTTAAGGAGATCACAACTAATGAAGTAATGGAAGAAGATTTAAAGAATCAGCCAAGTGTAATTTGAAACCCTTGCTGTTAAGAAGGTGAGGATAGAAATCAGAAACTCAACTATACACTAAAGTAGAGAAAGAAGCAATTGCTTGAAGTCTAGCTCTACTGGCAGTCATCACATGTG... | TACTGCATAAGGTCATGGTGAAGATTAAATAAATTTGCATGAAAAGCACTTTAAAAAGTGCCAGGCACATGATAGTTAATAAATGTAAGCTGCTATCATTATCCTACTATTAGTAATACTCTAACTTCTGTGACATAATCAATGTTAAGGAGATCACAACTAATGAAGTAATGGAAGAAGATTTAAAGAATCAGCCAAGTGTAATTTGAAACCCTTGCTGTTAAGAAGGTGAGGATAGAAATCAGAAACTCAACTATACACTAAAGTAGAGAAAGAAGCAATTGCTTGAAGTCTAGCTCTACTGGCAGTCATCACATGTG... | pathogenic | 148,992 |
For chromosome 9, position 109141465, gene FRRS1L (ferric chelate reductase 1 like): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Chorea', 'Developmental_and_epileptic_encephalopathy,_37', 'FRRS1L-related_disorder', 'Inborn_genetic_diseases', 'Progressive_encephalopathy', 'Seizure'] | AAAATACAGCTTTTTCCAATTGGTAAAGCAATTTCAAATACTTGTTTTCACTTAATCCTTACAATATTTCCATGGAATAGGAAGTATTATTATCCCCACTTTAGATATAAGGAAATGAAATTCAGAAATTAAATAATAGGCTAAATATTATACAGCTACCAAGGGGCAGAACCAATACTCAAACTCAAATTTTTAGACTTCAAATCCCACTATTTTAGATTACTCCATTTCTCCAGGCTGAGATATAATTTATTTCCCAGGGTACCGAAAGTAATTGAAGTTATAACTGCAGAGCCACTGTTGGTAATCTGGGAAATTAG... | AAAATACAGCTTTTTCCAATTGGTAAAGCAATTTCAAATACTTGTTTTCACTTAATCCTTACAATATTTCCATGGAATAGGAAGTATTATTATCCCCACTTTAGATATAAGGAAATGAAATTCAGAAATTAAATAATAGGCTAAATATTATACAGCTACCAAGGGGCAGAACCAATACTCAAACTCAAATTTTTAGACTTCAAATCCCACTATTTTAGATTACTCCATTTCTCCAGGCTGAGATATAATTTATTTCCCAGGGTACCGAAAGTAATTGAAGTTATAACTGCAGAGCCACTGTTGGTAATCTGGGAAATTAG... | pathogenic | 149,008 |
Is the variant located on chromosome 9 at position 109141485, gene FRRS1L (ferric chelate reductase 1 like), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_37'] | TGGTAAAGCAATTTCAAATACTTGTTTTCACTTAATCCTTACAATATTTCCATGGAATAGGAAGTATTATTATCCCCACTTTAGATATAAGGAAATGAAATTCAGAAATTAAATAATAGGCTAAATATTATACAGCTACCAAGGGGCAGAACCAATACTCAAACTCAAATTTTTAGACTTCAAATCCCACTATTTTAGATTACTCCATTTCTCCAGGCTGAGATATAATTTATTTCCCAGGGTACCGAAAGTAATTGAAGTTATAACTGCAGAGCCACTGTTGGTAATCTGGGAAATTAGCAAATGGAAAAGGTGTCACC... | TGGTAAAGCAATTTCAAATACTTGTTTTCACTTAATCCTTACAATATTTCCATGGAATAGGAAGTATTATTATCCCCACTTTAGATATAAGGAAATGAAATTCAGAAATTAAATAATAGGCTAAATATTATACAGCTACCAAGGGGCAGAACCAATACTCAAACTCAAATTTTTAGACTTCAAATCCCACTATTTTAGATTACTCCATTTCTCCAGGCTGAGATATAATTTATTTCCCAGGGTACCGAAAGTAATTGAAGTTATAACTGCAGAGCCACTGTTGGTAATCTGGGAAATTAGCAAATGGAAAAGGTGTCACC... | pathogenic | 149,010 |
Located at chromosome 9 position 109149675, the variant affecting gene FRRS1L (ferric chelate reductase 1 like)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Chorea', 'Developmental_and_epileptic_encephalopathy,_37', 'Progressive_encephalopathy', 'Seizure'] | TAACTTACAAATTTTCATATAATCAAACTAACACAAATTTACAAATTCAATATAAATTAAACTAATAAACCAGGAACATTGAAATTCACAGCACTCATGCAACAGATAATGGGGCTTTACTGAAAGTAAATTTCTGCTTATGTGCATGTGGTATCCGATTAGATCGTGCAGGGTCTTTGGAGTTGAGAGCATGTTCTTACTACTCTCTATAGCATGATGGCTCAACTCTTCACTTTTATCTGTTTGAACTGCTGCAAAATCCTTATTTATGCGATACACCAAATGAATACCCCCATCTGGTACTCATGAACCATGAATGA... | TAACTTACAAATTTTCATATAATCAAACTAACACAAATTTACAAATTCAATATAAATTAAACTAATAAACCAGGAACATTGAAATTCACAGCACTCATGCAACAGATAATGGGGCTTTACTGAAAGTAAATTTCTGCTTATGTGCATGTGGTATCCGATTAGATCGTGCAGGGTCTTTGGAGTTGAGAGCATGTTCTTACTACTCTCTATAGCATGATGGCTCAACTCTTCACTTTTATCTGTTTGAACTGCTGCAAAATCCTTATTTATGCGATACACCAAATGAATACCCCCATCTGGTACTCATGAACCATGAATGA... | pathogenic | 149,017 |
Gene FRRS1L (ferric chelate reductase 1 like) variant at chromosome position 109167140 on chromosome 9: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ACCTGGCAGCACTAGGCTGTGTACAGTGTAAAGATACATTAGATGCTTTCAGAAACAGACGGGCTTCGGAATATTTATTCTTTTCCAGAGTGACAGATTCCGCCACATGGCTCTCCAGCTAGAAGACTACATTTCTTAGTCTCCCTTGAAGCTAGGTCATTGTAACTATGTTTTTGCCAAAGGAATGTGAACAGCAGTAATGTGGGCAGCCAGCCTAAAAGGTAACTACTTGCCCTGAACTTCTCTTTTTCTTTCCCTCAATCTTGAACAAGGACATGCAACCTGGCTTCTACTGTACTGATGAGGACAAAGCCTCAGGG... | ACCTGGCAGCACTAGGCTGTGTACAGTGTAAAGATACATTAGATGCTTTCAGAAACAGACGGGCTTCGGAATATTTATTCTTTTCCAGAGTGACAGATTCCGCCACATGGCTCTCCAGCTAGAAGACTACATTTCTTAGTCTCCCTTGAAGCTAGGTCATTGTAACTATGTTTTTGCCAAAGGAATGTGAACAGCAGTAATGTGGGCAGCCAGCCTAAAAGGTAACTACTTGCCCTGAACTTCTCTTTTTCTTTCCCTCAATCTTGAACAAGGACATGCAACCTGGCTTCTACTGTACTGATGAGGACAAAGCCTCAGGG... | benign | 149,023 |
Clinically, how would you classify the variant at chromosome 9, position 110048735, gene PALM2AKAP2 (PALM2 and AKAP2 fusion): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | CAAACTCCCGACCTCAGATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTTCACCCGGCCTTGCTTTACTGTTTCTAATAATGAAACTAATTTTGTTTGTAAATTTTACACTTATTCTAATTTAGGAAAATATGAGAAGGGAGTGATGAAGTACCTGCCATGATATTGTTTATAACATCTCACATCTGATGTAATTCTAAAATTCTTCCTTAGAGAGTCTATGGTCCATATAAATAAATAAGTGATATCCAAGCACACTCATTTTAATGTGAGTTTTTCACATGATATTAAAATGTTAA... | CAAACTCCCGACCTCAGATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTTCACCCGGCCTTGCTTTACTGTTTCTAATAATGAAACTAATTTTGTTTGTAAATTTTACACTTATTCTAATTTAGGAAAATATGAGAAGGGAGTGATGAAGTACCTGCCATGATATTGTTTATAACATCTCACATCTGATGTAATTCTAAAATTCTTCCTTAGAGAGTCTATGGTCCATATAAATAAATAAGTGATATCCAAGCACACTCATTTTAATGTGAGTTTTTCACATGATATTAAAATGTTAA... | benign | 149,031 |
Does the variant impacting MUSK (muscle associated receptor tyrosine kinase) on chromosome 9, position 110747795, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Fetal_akinesia_deformation_sequence_1'] | CTGGGGAAAATGCCACAATACTTGATCTGACCTGGAAAGATTCCCAGTGAAGGTAAATTGATACTCACATAAGCCAGTTTTTATCATAAGAATTGAGACTAGTACTGAAGGTAAAGAATAAAAAGCTAGTTGGACAAACGTTCACTGCATGATTGCTACACAGTGCTTGGTGCCAGGGATAGCCAGCCACCTGGCAGCTAGGAAGAAAGCTGGCCTTACCTCAGAGCTTTCTTCTTCCTGGCTAGTCAAACTGTGAAAATCCTTTCTCATGCAACACAATAAAATAATTGGCTCCAAAATGTCTCATTCTCAGCCTCATT... | CTGGGGAAAATGCCACAATACTTGATCTGACCTGGAAAGATTCCCAGTGAAGGTAAATTGATACTCACATAAGCCAGTTTTTATCATAAGAATTGAGACTAGTACTGAAGGTAAAGAATAAAAAGCTAGTTGGACAAACGTTCACTGCATGATTGCTACACAGTGCTTGGTGCCAGGGATAGCCAGCCACCTGGCAGCTAGGAAGAAAGCTGGCCTTACCTCAGAGCTTTCTTCTTCCTGGCTAGTCAAACTGTGAAAATCCTTTCTCATGCAACACAATAAAATAATTGGCTCCAAAATGTCTCATTCTCAGCCTCATT... | pathogenic | 149,070 |
Gene MUSK (muscle associated receptor tyrosine kinase) variant at chromosome 9, position 110762231—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | CATTCGACCCAGCAATTCCGCTACTGAGTATATATTCAAAGGAATATAAATCAGTCTACCATAAAGACACATGCATGCAAATGTTCGTTGCAGCACTATTCATAATAGCCAAGATGTGGAATCAACCTAAATGCCTATCAATGACAGATTGGACAAAGGAAATGTGGCACATATACACCATGGAATACTACGTGGTCATAAAAAATAATAAGATCATGTCCTTTGCAGGAACATGTATGGAACTGGAGGCCACTATCCTTAGCAAACTAATGCAGGAACAGGAAACTAAATACTGCATGTTCCCACTTATAAGTGGGAGC... | CATTCGACCCAGCAATTCCGCTACTGAGTATATATTCAAAGGAATATAAATCAGTCTACCATAAAGACACATGCATGCAAATGTTCGTTGCAGCACTATTCATAATAGCCAAGATGTGGAATCAACCTAAATGCCTATCAATGACAGATTGGACAAAGGAAATGTGGCACATATACACCATGGAATACTACGTGGTCATAAAAAATAATAAGATCATGTCCTTTGCAGGAACATGTATGGAACTGGAGGCCACTATCCTTAGCAAACTAATGCAGGAACAGGAAACTAAATACTGCATGTTCCCACTTATAAGTGGGAGC... | benign | 149,072 |
Does the genetic variant at chromosome 9, position 110767989, impacting gene MUSK (muscle associated receptor tyrosine kinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_9', 'Fetal_akinesia_deformation_sequence_1'] | CAAAGGGTATGATCTAATGCTAACAGGCTGAGTGGGGAAACTAGCCCATCCTGCTTGTTCAGATTTTTCTCAGCCCCTCTGTGCAGCACTCACTCCTCCCAGGCAAGAGGTAGGATCCCTCTGGAATGAGGGTCTGAATTTCTTTATGGCCAGGTGTTACACAGAAAAGCTGGGGGTGGGTAGAGTAAATGTTTAGGTTTTATGGCTGGCCTTGAGGAAAAGGCGTTCTGGTGTCTGATCTGACTTGGAGAAGAGGGATTCTAGTGTCTAAGGTTTGCCTGAGGGAAGAAAGAGAGGAGAGACAGGAGGGCAGAAGGTCT... | CAAAGGGTATGATCTAATGCTAACAGGCTGAGTGGGGAAACTAGCCCATCCTGCTTGTTCAGATTTTTCTCAGCCCCTCTGTGCAGCACTCACTCCTCCCAGGCAAGAGGTAGGATCCCTCTGGAATGAGGGTCTGAATTTCTTTATGGCCAGGTGTTACACAGAAAAGCTGGGGGTGGGTAGAGTAAATGTTTAGGTTTTATGGCTGGCCTTGAGGAAAAGGCGTTCTGGTGTCTGATCTGACTTGGAGAAGAGGGATTCTAGTGTCTAAGGTTTGCCTGAGGGAAGAAAGAGAGGAGAGACAGGAGGGCAGAAGGTCT... | pathogenic | 149,075 |
Clinical classification of chromosome 9, position 114156007, gene COL27A1 (collagen type XXVII alpha 1 chain): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Steel_syndrome'] | ACTTTTCCTAAAGTTTGTTGAAACCAGACACCTTGCTCGACCGAGCCCGCGTGCAGCCAGGGTTTAAAAGGCCGCCTTCAGCGCCCCCTCCCCGCCCCCAGCGGAGACTTCAAAAGGCCCGGCGGGCGCCGCCGCCCCAGCACCTATGAGCCGCCCCCAGCTCTCGGAGCCCGCGCCGGAGCCCGTGGACGCAGAGCTGCCGAAGTTCGAGCGCAGGCGGACCGGGTCGGCGGCGCAGTCCCGCGCGCCCATGCCCCTCCCGGTGCCGCTGCGCTCCGCGCGCCCGCGCCCCGTTTAGGGAAGGGGACCTCGCCCCCCGC... | ACTTTTCCTAAAGTTTGTTGAAACCAGACACCTTGCTCGACCGAGCCCGCGTGCAGCCAGGGTTTAAAAGGCCGCCTTCAGCGCCCCCTCCCCGCCCCCAGCGGAGACTTCAAAAGGCCCGGCGGGCGCCGCCGCCCCAGCACCTATGAGCCGCCCCCAGCTCTCGGAGCCCGCGCCGGAGCCCGTGGACGCAGAGCTGCCGAAGTTCGAGCGCAGGCGGACCGGGTCGGCGGCGCAGTCCCGCGCGCCCATGCCCCTCCCGGTGCCGCTGCGCTCCGCGCGCCCGCGCCCCGTTTAGGGAAGGGGACCTCGCCCCCCGC... | pathogenic | 149,162 |
Is chromosome 9, position 114252641, gene COL27A1 (collagen type XXVII alpha 1 chain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Steel_syndrome'] | CTTTCGGGAATGTGTCTCATAGGGATTTATGGGATTCATTGGTCTGGTCGGGGAGCCAGGAATCGTGGGAGAAAAGGTAAGTGGTGTTGAGGGGAAAAGATAAACAATTAGAGCTTGTGTTTTGAAATTGTAAAAAGGTGAAGAGGCCCTTTGACCTGGGGATTTCAGAATACCCTCCCCTAGCCTCTCTCCTGACCTGGCATTCTGAGTCTGCCAAGAGACATTGTTCCCTTTCCTGGCATCCCTTGGGGTTCTATCCCTGCCCTACTGTCATCAGCCTCAAGCACAGTTAGACTTTTGTGTGACAACCAGCAGATGCA... | CTTTCGGGAATGTGTCTCATAGGGATTTATGGGATTCATTGGTCTGGTCGGGGAGCCAGGAATCGTGGGAGAAAAGGTAAGTGGTGTTGAGGGGAAAAGATAAACAATTAGAGCTTGTGTTTTGAAATTGTAAAAAGGTGAAGAGGCCCTTTGACCTGGGGATTTCAGAATACCCTCCCCTAGCCTCTCTCCTGACCTGGCATTCTGAGTCTGCCAAGAGACATTGTTCCCTTTCCTGGCATCCCTTGGGGTTCTATCCCTGCCCTACTGTCATCAGCCTCAAGCACAGTTAGACTTTTGTGTGACAACCAGCAGATGCA... | pathogenic | 149,230 |
Mutation at chromosome 9, position 114275666, within COL27A1 (collagen type XXVII alpha 1 chain): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Steel_syndrome'] | CTCTCCTCTGGATGCACACCAGTTTATCAGTGTCCCTCGTAAACCTTGGCACTGGGGGACAGAACTGGTAAAGACACACTATGCTTTTCCAAGCCTGCTCTTCTCGCCCATCCCTTCCTGATGGACGCCGCCCCTCAGCAGCCATGCCCGTGCTGCACTCCACACCTGCTCTGCTCACGGTGATGAGGGTGACAGCCCACGCCCCATCCTGGAATCCTGCATGCCCCATCCTGGAACCCCACCTGCCCCCAATCTCTCTCAGAGTACGCAAAGATTACCGTGATGAGATAAGGCAAGCTTAGAGTGACACTGATTGCTTC... | CTCTCCTCTGGATGCACACCAGTTTATCAGTGTCCCTCGTAAACCTTGGCACTGGGGGACAGAACTGGTAAAGACACACTATGCTTTTCCAAGCCTGCTCTTCTCGCCCATCCCTTCCTGATGGACGCCGCCCCTCAGCAGCCATGCCCGTGCTGCACTCCACACCTGCTCTGCTCACGGTGATGAGGGTGACAGCCCACGCCCCATCCTGGAATCCTGCATGCCCCATCCTGGAACCCCACCTGCCCCCAATCTCTCTCAGAGTACGCAAAGATTACCGTGATGAGATAAGGCAAGCTTAGAGTGACACTGATTGCTTC... | pathogenic | 149,241 |
Does the variant on chromosome 9 at location 114290319 affecting gene COL27A1 (collagen type XXVII alpha 1 chain) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Steel_syndrome'] | AGTCCTGGTTCCACACCAGCCTGAGTCTGGCTCAGACACACCTACCCTTCCCTCTCTAGTTTGTGTCCCCATCTGTAACCCTAAGCAGGCTAGAATTCATCTCTGACGAAGCGCTTTCCGTCTGGAATTCCCCACATTCCCCAGGAGCAGGCGGTTTGCCCTAAAGCTGGTTCTGTGTCCACAGGGGGAGCAGGGCGAGGACGGCAAGGCTGAGGGGCCCCCTGGGCCACCTGGAGATCGGGTAAGCCCCCTCCCTCCCCTGGACCATGTGGCGTCCTAGGTGGAATCTGAGCCTCCCGCTGCATGGAGAGGGGTGGGCC... | AGTCCTGGTTCCACACCAGCCTGAGTCTGGCTCAGACACACCTACCCTTCCCTCTCTAGTTTGTGTCCCCATCTGTAACCCTAAGCAGGCTAGAATTCATCTCTGACGAAGCGCTTTCCGTCTGGAATTCCCCACATTCCCCAGGAGCAGGCGGTTTGCCCTAAAGCTGGTTCTGTGTCCACAGGGGGAGCAGGGCGAGGACGGCAAGGCTGAGGGGCCCCCTGGGCCACCTGGAGATCGGGTAAGCCCCCTCCCTCCCCTGGACCATGTGGCGTCCTAGGTGGAATCTGAGCCTCCCGCTGCATGGAGAGGGGTGGGCC... | pathogenic | 149,265 |
Considering the genetic mutation at chromosome 9, position 114466373, impacting WHRN (whirlin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_31', 'Usher_syndrome_type_2D'] | GGGTGGCTTATAAGCAACAGAAATTTACATCTCACAGTTTTGGAGGTTGGAAGTCCAAGATCAAGACGCCAGCAGGTTCAGTGTCTGGTGAGGGCCCACTTCCTGGTTCATAGACTGTGCCTTCTTACTGTGTCCTCACATGGTGGAAGGGGCGAGGCAGTTCTTGGAGCCTCTTTTATAAGGGCACTAATCCCATTCGTGGGGCTCCACCCTCATGACCTAATCATCTCCCAAAGGCCCCACCTCCTAATACTATCAGCTTGTGGGTAAGGATTTCAATACATGAATTTTGGAGGAACACAATCTGTGGCAATGTTTAC... | GGGTGGCTTATAAGCAACAGAAATTTACATCTCACAGTTTTGGAGGTTGGAAGTCCAAGATCAAGACGCCAGCAGGTTCAGTGTCTGGTGAGGGCCCACTTCCTGGTTCATAGACTGTGCCTTCTTACTGTGTCCTCACATGGTGGAAGGGGCGAGGCAGTTCTTGGAGCCTCTTTTATAAGGGCACTAATCCCATTCGTGGGGCTCCACCCTCATGACCTAATCATCTCCCAAAGGCCCCACCTCCTAATACTATCAGCTTGTGGGTAAGGATTTCAATACATGAATTTTGGAGGAACACAATCTGTGGCAATGTTTAC... | pathogenic | 149,349 |
A genetic alteration at chromosome 9, position 114505401, in gene WHRN (whirlin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GAAAAATGCCTGCAAAGGATCCATGAATCCACCCTGGACCCAACACTATCCATCATACTCCAACTGGTTTTCAGTAGCCCTGGGCTGTAGATCAGTAAGCACACACACTCCTTTAAAAAGCATGATTAAATCCCTGGAAGCCTGTTGTCATGAGGTTATATTTCTCAATTAACAAATGGCAGAAAGGACAAACACTCTCAGGGGCTAGGGAATTTATTTTTTACATTCAGGCAGGAGTCTCATTTCCAAAAAGGTTAGGGACCGCTTATTTGGTCCAGTGGCCCCATTTTCCAAGTGGAGAACAAGAGGTCCTGAGAGGG... | GAAAAATGCCTGCAAAGGATCCATGAATCCACCCTGGACCCAACACTATCCATCATACTCCAACTGGTTTTCAGTAGCCCTGGGCTGTAGATCAGTAAGCACACACACTCCTTTAAAAAGCATGATTAAATCCCTGGAAGCCTGTTGTCATGAGGTTATATTTCTCAATTAACAAATGGCAGAAAGGACAAACACTCTCAGGGGCTAGGGAATTTATTTTTTACATTCAGGCAGGAGTCTCATTTCCAAAAAGGTTAGGGACCGCTTATTTGGTCCAGTGGCCCCATTTTCCAAGTGGAGAACAAGAGGTCCTGAGAGGG... | benign | 149,369 |
Chromosome 9, position 116697936, gene ASTN2: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['TRIM32-related_disorder'] | GGCACTGCTATTTTTTAAATCATCTAGGCTTGAGTCTTTGGCTATCTCTGCTCTTCACCACTCCCCCACCATAATCCACTCACCTTTCAAATCTTACTGACTATACTTCTGGATATTGCTCAAATGAATCTTTCCATTTCCACCACCTGCTCCCTAGTTCAGACTCCCCATTATCCCCGTCTTCTCTGATGTTTCCCCACTCCATTCCTGCTTTGATCATATCATCTTCCTGCTTCAAAACATTCATCACCTCACCATGCCCTTGAAAATGACGCTCAAAAATCTCATTTTGGCTCTGAAGACCTTTTATAATTATTCCC... | GGCACTGCTATTTTTTAAATCATCTAGGCTTGAGTCTTTGGCTATCTCTGCTCTTCACCACTCCCCCACCATAATCCACTCACCTTTCAAATCTTACTGACTATACTTCTGGATATTGCTCAAATGAATCTTTCCATTTCCACCACCTGCTCCCTAGTTCAGACTCCCCATTATCCCCGTCTTCTCTGATGTTTCCCCACTCCATTCCTGCTTTGATCATATCATCTTCCTGCTTCAAAACATTCATCACCTCACCATGCCCTTGAAAATGACGCTCAAAAATCTCATTTTGGCTCTGAAGACCTTTTATAATTATTCCC... | pathogenic | 149,487 |
Assess the variant on chromosome 9, position 116697969, impacting ASTN2: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_11', 'Sarcotubular_myopathy'] | GTCTTTGGCTATCTCTGCTCTTCACCACTCCCCCACCATAATCCACTCACCTTTCAAATCTTACTGACTATACTTCTGGATATTGCTCAAATGAATCTTTCCATTTCCACCACCTGCTCCCTAGTTCAGACTCCCCATTATCCCCGTCTTCTCTGATGTTTCCCCACTCCATTCCTGCTTTGATCATATCATCTTCCTGCTTCAAAACATTCATCACCTCACCATGCCCTTGAAAATGACGCTCAAAAATCTCATTTTGGCTCTGAAGACCTTTTATAATTATTCCCCCAATTTACCTTTCCAAGTCTGTTACTCTATTC... | GTCTTTGGCTATCTCTGCTCTTCACCACTCCCCCACCATAATCCACTCACCTTTCAAATCTTACTGACTATACTTCTGGATATTGCTCAAATGAATCTTTCCATTTCCACCACCTGCTCCCTAGTTCAGACTCCCCATTATCCCCGTCTTCTCTGATGTTTCCCCACTCCATTCCTGCTTTGATCATATCATCTTCCTGCTTCAAAACATTCATCACCTCACCATGCCCTTGAAAATGACGCTCAAAAATCTCATTTTGGCTCTGAAGACCTTTTATAATTATTCCCCCAATTTACCTTTCCAAGTCTGTTACTCTATTC... | pathogenic | 149,489 |
A genetic alteration at chromosome 9, position 116698197, in gene ASTN2—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_11', 'Sarcotubular_myopathy'] | CTTGAAAATGACGCTCAAAAATCTCATTTTGGCTCTGAAGACCTTTTATAATTATTCCCCCAATTTACCTTTCCAAGTCTGTTACTCTATTCCCCATATATACTCCCACAGTTTTAATCTAAGGATAATAAAAAAGAGAACTAAAATTCATTAAAGGCTTTTTTGGTGCAGAGCCAAATCTTAGCATTCTATACACTCTATATATTATTTCATTCTTACATTAACTCTGTAAAGACAGTATTTTTCCATTTTAAAGGTGGAGAAAATAAAATGCATAGAGTTTAAGTATTCTCTGTTTTCTTTCTAATACATGAAACTTC... | CTTGAAAATGACGCTCAAAAATCTCATTTTGGCTCTGAAGACCTTTTATAATTATTCCCCCAATTTACCTTTCCAAGTCTGTTACTCTATTCCCCATATATACTCCCACAGTTTTAATCTAAGGATAATAAAAAAGAGAACTAAAATTCATTAAAGGCTTTTTTGGTGCAGAGCCAAATCTTAGCATTCTATACACTCTATATATTATTTCATTCTTACATTAACTCTGTAAAGACAGTATTTTTCCATTTTAAAGGTGGAGAAAATAAAATGCATAGAGTTTAAGTATTCTCTGTTTTCTTTCTAATACATGAAACTTC... | pathogenic | 149,494 |
A genetic alteration at chromosome 9, position 116698344, in gene ASTN2—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_11', 'Sarcotubular_myopathy'] | TCATTAAAGGCTTTTTTGGTGCAGAGCCAAATCTTAGCATTCTATACACTCTATATATTATTTCATTCTTACATTAACTCTGTAAAGACAGTATTTTTCCATTTTAAAGGTGGAGAAAATAAAATGCATAGAGTTTAAGTATTCTCTGTTTTCTTTCTAATACATGAAACTTCTTGTCCTTTCCTTTGCCTTTTATACTTTGTTAAGGTTGTGCCTTTTGCCCACTTCTTTCTTCCCTCTCCATGTATTTATGCATCTTTCCAGGCCAATATAAAATGTCATCTTCCCTTTGAAAATTCTGTATCCCTTCAGATTGGAAT... | TCATTAAAGGCTTTTTTGGTGCAGAGCCAAATCTTAGCATTCTATACACTCTATATATTATTTCATTCTTACATTAACTCTGTAAAGACAGTATTTTTCCATTTTAAAGGTGGAGAAAATAAAATGCATAGAGTTTAAGTATTCTCTGTTTTCTTTCTAATACATGAAACTTCTTGTCCTTTCCTTTGCCTTTTATACTTTGTTAAGGTTGTGCCTTTTGCCCACTTCTTTCTTCCCTCTCCATGTATTTATGCATCTTTCCAGGCCAATATAAAATGTCATCTTCCCTTTGAAAATTCTGTATCCCTTCAGATTGGAAT... | pathogenic | 149,496 |
Is the genetic change at chromosome 9, position 116698432, within gene ASTN2 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_11', 'Limb-girdle_muscular_dystrophy', 'Sarcotubular_myopathy'] | CAGTATTTTTCCATTTTAAAGGTGGAGAAAATAAAATGCATAGAGTTTAAGTATTCTCTGTTTTCTTTCTAATACATGAAACTTCTTGTCCTTTCCTTTGCCTTTTATACTTTGTTAAGGTTGTGCCTTTTGCCCACTTCTTTCTTCCCTCTCCATGTATTTATGCATCTTTCCAGGCCAATATAAAATGTCATCTTCCCTTTGAAAATTCTGTATCCCTTCAGATTGGAATGACTCCTCAACCCCCATCAAACTTAGTTTTTATTTCGTTTATAGTACCACTTTCTGCCTTCATTATTATTTACCTACATGTCTTGTCT... | CAGTATTTTTCCATTTTAAAGGTGGAGAAAATAAAATGCATAGAGTTTAAGTATTCTCTGTTTTCTTTCTAATACATGAAACTTCTTGTCCTTTCCTTTGCCTTTTATACTTTGTTAAGGTTGTGCCTTTTGCCCACTTCTTTCTTCCCTCTCCATGTATTTATGCATCTTTCCAGGCCAATATAAAATGTCATCTTCCCTTTGAAAATTCTGTATCCCTTCAGATTGGAATGACTCCTCAACCCCCATCAAACTTAGTTTTTATTTCGTTTATAGTACCACTTTCTGCCTTCATTATTATTTACCTACATGTCTTGTCT... | pathogenic | 149,499 |
Considering the genetic mutation at chromosome 9, position 116698848, impacting ASTN2: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_11', 'Sarcotubular_myopathy', 'TRIM32-related_disorder'] | GGTGAGTAAGTAGGAGGATAGATGCGTGGAAAATGTGTATTTTCTGATCTGATGTTTTGCAGATCACCTAAAACTAATCATCACAATTTTCTGCTTCTGTGGATGATTCCTAGGCCCCCAAACATGACACAATAAACTCTGTGACATGATTAAAAAAAAAAAAAAAAGCCTCCACACTTTTGCTTACATGGTTTTCTTTGCTTAAAGTACCTTTATCCTCATTCCTTCATTTCTTTCAAGACATATCTTAGGAGTGAAACTGCTTTTGGGAAGCCTTCCCCAAGTCTGTTAGGTAGAATCCATCATTCCATCCACTGTAC... | GGTGAGTAAGTAGGAGGATAGATGCGTGGAAAATGTGTATTTTCTGATCTGATGTTTTGCAGATCACCTAAAACTAATCATCACAATTTTCTGCTTCTGTGGATGATTCCTAGGCCCCCAAACATGACACAATAAACTCTGTGACATGATTAAAAAAAAAAAAAAAAGCCTCCACACTTTTGCTTACATGGTTTTCTTTGCTTAAAGTACCTTTATCCTCATTCCTTCATTTCTTTCAAGACATATCTTAGGAGTGAAACTGCTTTTGGGAAGCCTTCCCCAAGTCTGTTAGGTAGAATCCATCATTCCATCCACTGTAC... | pathogenic | 149,502 |
Considering the variant on chromosome 9, location 116698869, involving gene ASTN2, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Bardet-Biedl_syndrome_11', 'Sarcotubular_myopathy'] | ATGCGTGGAAAATGTGTATTTTCTGATCTGATGTTTTGCAGATCACCTAAAACTAATCATCACAATTTTCTGCTTCTGTGGATGATTCCTAGGCCCCCAAACATGACACAATAAACTCTGTGACATGATTAAAAAAAAAAAAAAAAGCCTCCACACTTTTGCTTACATGGTTTTCTTTGCTTAAAGTACCTTTATCCTCATTCCTTCATTTCTTTCAAGACATATCTTAGGAGTGAAACTGCTTTTGGGAAGCCTTCCCCAAGTCTGTTAGGTAGAATCCATCATTCCATCCACTGTACTCCAGCAGAACATTATGTGGA... | ATGCGTGGAAAATGTGTATTTTCTGATCTGATGTTTTGCAGATCACCTAAAACTAATCATCACAATTTTCTGCTTCTGTGGATGATTCCTAGGCCCCCAAACATGACACAATAAACTCTGTGACATGATTAAAAAAAAAAAAAAAAGCCTCCACACTTTTGCTTACATGGTTTTCTTTGCTTAAAGTACCTTTATCCTCATTCCTTCATTTCTTTCAAGACATATCTTAGGAGTGAAACTGCTTTTGGGAAGCCTTCCCCAAGTCTGTTAGGTAGAATCCATCATTCCATCCACTGTACTCCAGCAGAACATTATGTGGA... | pathogenic | 149,503 |
Clinical classification of chromosome 9, position 116699300, gene ASTN2: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_11', 'Sarcotubular_myopathy'] | TAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAAT... | TAGCATTTATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAAT... | pathogenic | 149,510 |
The genetic variant at chromosome 9, position 116699308, affecting gene ASTN2: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'TRIM32-related_disorder'] | ATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTC... | ATTACAAGTATACTACTTCCCTGGTGCTATACTAAGCACATCATATTTATCTTGTTACTTAGCCCTTATAATAACCATATAAGGCAGACACCATTATTACTTCTATTTTACAGATGAGTGATGGGGAAAGAGCTTTTGGAAGTTTGAGTTAATTCCTTATGGTCATGCAGCTAAGTAAGTGTCTGAGACTACAGAATCTGAATTATTTCCCACTATGCAGTGTTTTGTCTGGTTTGTTTCCCTATCTGTCACCCTCACGTGACATATAATAGACCTCAATAAAATAGTTGTTAAGTAAGGGAATGACTGAATGACTGGTC... | pathogenic | 149,511 |
Regarding the variant at chromosome 9 and position 120402960, affecting gene CDK5RAP2 (CDK5 regulatory subunit associated protein 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Microcephaly_3,_primary,_autosomal_recessive'] | CGTGCAGTCTTGAAAAAGATTTTAGACAAGCAAGCCTTAACATGCAGTATAAATCTCCAGACTGTAGGGCTTCTGTTTCACACGCTGAGCGAAAGCCTGGTACCACATAACACCAATTTATTGTTCTTAAAGACTGGTGAATTGTAGATTATGAGAGAATTTCAGTGGTGATCTTAGCCCAATCAATAACCATGATTAATAACCACCATGGTTAATAACCACCAGCATTAACTACAGTTACTACTCCAAGTAAAGGGTCTGTGGGAGGGCCATTCTTACTGTTTGGCGACCCACAGAGACTCGCCCAGAGAAAATGACAC... | CGTGCAGTCTTGAAAAAGATTTTAGACAAGCAAGCCTTAACATGCAGTATAAATCTCCAGACTGTAGGGCTTCTGTTTCACACGCTGAGCGAAAGCCTGGTACCACATAACACCAATTTATTGTTCTTAAAGACTGGTGAATTGTAGATTATGAGAGAATTTCAGTGGTGATCTTAGCCCAATCAATAACCATGATTAATAACCACCATGGTTAATAACCACCAGCATTAACTACAGTTACTACTCCAAGTAAAGGGTCTGTGGGAGGGCCATTCTTACTGTTTGGCGACCCACAGAGACTCGCCCAGAGAAAATGACAC... | pathogenic | 149,555 |
Considering the genetic mutation at chromosome 9, position 120443670, impacting CDK5RAP2 (CDK5 regulatory subunit associated protein 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases', 'Microcephaly_3,_primary,_autosomal_recessive'] | TCACACACAAATCCTCATCAGACTGCATGTCCCAATTTCTGGTTCTGCAATCTGCTCCTTGTGACTTGAGGTACACTCTTGTATCTGTTCATGATGCAAATACCATAAAGTATGGCATTTCATTTCAGAAAGCAGCTGCTACCTGACCTAAAGGAAGCATTCCTAATACAGTATTTTTATTATACACAATGTTATGATAATTACTCAATAAGAGCCTTGAGGGTGCAGACCGTGTCATCCATGTCTGTTTCTCCAGTATCTAGCACAGGGTCTGCGACAGAGAATGTACTCACCAAGTATTTCTGGCTGAACAAGAAAGA... | TCACACACAAATCCTCATCAGACTGCATGTCCCAATTTCTGGTTCTGCAATCTGCTCCTTGTGACTTGAGGTACACTCTTGTATCTGTTCATGATGCAAATACCATAAAGTATGGCATTTCATTTCAGAAAGCAGCTGCTACCTGACCTAAAGGAAGCATTCCTAATACAGTATTTTTATTATACACAATGTTATGATAATTACTCAATAAGAGCCTTGAGGGTGCAGACCGTGTCATCCATGTCTGTTTCTCCAGTATCTAGCACAGGGTCTGCGACAGAGAATGTACTCACCAAGTATTTCTGGCTGAACAAGAAAGA... | pathogenic | 149,590 |
Variant in CDK5RAP2 (CDK5 regulatory subunit associated protein 2), chromosome 9, position 120536474—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Microcephaly_3,_primary,_autosomal_recessive'] | ACTTAGCCCTTATCATCCTGCTCCTCCCTCCACCCCTCCCACCCTGCTGGATGATAAGCTTCAACTCAAACAATGAGATTCCTGGGGAGAGGAACCCAGGCTGTATCACTCCTTCTTACATTCTCATCACCACTGTGCTGAGTAGAAGATGCTCAGGTGATATTTTTTGAATAAAAGGCATAAAGATCCAATAGAACCAATTAACTGACTGCTCAGCATCTGTCAGGACCCTCAGAGGGCCTTTTCTATTCATTCTGTCCCAGGACCTCTTTTCAAACCTATCCCAAACCCTCTCCTTCCCCTTCACAGGCGCCAGGAAT... | ACTTAGCCCTTATCATCCTGCTCCTCCCTCCACCCCTCCCACCCTGCTGGATGATAAGCTTCAACTCAAACAATGAGATTCCTGGGGAGAGGAACCCAGGCTGTATCACTCCTTCTTACATTCTCATCACCACTGTGCTGAGTAGAAGATGCTCAGGTGATATTTTTTGAATAAAAGGCATAAAGATCCAATAGAACCAATTAACTGACTGCTCAGCATCTGTCAGGACCCTCAGAGGGCCTTTTCTATTCATTCTGTCCCAGGACCTCTTTTCAAACCTATCCCAAACCCTCTCCTTCCCCTTCACAGGCGCCAGGAAT... | pathogenic | 149,616 |
Variant in gene CDK5RAP2 (CDK5 regulatory subunit associated protein 2), located at chromosome 9 position 120536505: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Microcephaly_3,_primary,_autosomal_recessive'] | ACCCCTCCCACCCTGCTGGATGATAAGCTTCAACTCAAACAATGAGATTCCTGGGGAGAGGAACCCAGGCTGTATCACTCCTTCTTACATTCTCATCACCACTGTGCTGAGTAGAAGATGCTCAGGTGATATTTTTTGAATAAAAGGCATAAAGATCCAATAGAACCAATTAACTGACTGCTCAGCATCTGTCAGGACCCTCAGAGGGCCTTTTCTATTCATTCTGTCCCAGGACCTCTTTTCAAACCTATCCCAAACCCTCTCCTTCCCCTTCACAGGCGCCAGGAATTCTGCCAGTCTTTTCTTCTTTGGTGGCTGCT... | ACCCCTCCCACCCTGCTGGATGATAAGCTTCAACTCAAACAATGAGATTCCTGGGGAGAGGAACCCAGGCTGTATCACTCCTTCTTACATTCTCATCACCACTGTGCTGAGTAGAAGATGCTCAGGTGATATTTTTTGAATAAAAGGCATAAAGATCCAATAGAACCAATTAACTGACTGCTCAGCATCTGTCAGGACCCTCAGAGGGCCTTTTCTATTCATTCTGTCCCAGGACCTCTTTTCAAACCTATCCCAAACCCTCTCCTTCCCCTTCACAGGCGCCAGGAATTCTGCCAGTCTTTTCTTCTTTGGTGGCTGCT... | pathogenic | 149,618 |
Classify the chromosome 9 variant at position 120997788 affecting gene C5 (complement C5) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | ATTGTTGTGTCTCAGTCATTCAGATTATAGTAGTTGTACTATAATGCTATCAAGAAAGATAGTGATCTAAGAAGTGGATACTTTTTTTTTTTTTTTTTTGACACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGTAACCTCCACCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAATAGCTGGGACTATGGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGAT... | ATTGTTGTGTCTCAGTCATTCAGATTATAGTAGTTGTACTATAATGCTATCAAGAAAGATAGTGATCTAAGAAGTGGATACTTTTTTTTTTTTTTTTTTGACACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGTAACCTCCACCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAATAGCTGGGACTATGGGTGCCCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGTAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGAT... | benign | 149,666 |
Chromosome 9, position 121327496, gene GSN (gelsolin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GAGAGGTGCTCAGAGGGGCCAGACCACCAGAGGCCATAGTGACGATGTTGACCTTGATGCTGAGAACAACAGGAAGTTGCTGAATGATAAGTCTGAGGTGTAGGGATTTCTGGTTTAAAAAGTCACTCTGGCCAGGCGCTGGAGGGCAGCAGAGCTGGTTTGTGGAAATATAGGGGAAGCGGACAACAACTGTGCTTCCTCCGTCCTACGGTGGGAGTGGGCAGGGCTCTAGATTGGCATCGGGGGTTCGTGCCCTGACCTTTGACTATGATAGACTGGGTGCTGGGCACTAAATGAGATGATGACCATCTTAGCTCAGT... | GAGAGGTGCTCAGAGGGGCCAGACCACCAGAGGCCATAGTGACGATGTTGACCTTGATGCTGAGAACAACAGGAAGTTGCTGAATGATAAGTCTGAGGTGTAGGGATTTCTGGTTTAAAAAGTCACTCTGGCCAGGCGCTGGAGGGCAGCAGAGCTGGTTTGTGGAAATATAGGGGAAGCGGACAACAACTGTGCTTCCTCCGTCCTACGGTGGGAGTGGGCAGGGCTCTAGATTGGCATCGGGGGTTCGTGCCCTGACCTTTGACTATGATAGACTGGGTGCTGGGCACTAAATGAGATGATGACCATCTTAGCTCAGT... | benign | 149,801 |
Clinical impact (benign or pathogenic) of the variant at chromosome 9, location 123356238, gene CRB2 (crumbs cell polarity complex component 2): what disease(s) if pathogenic? | benign | CCCTCCATACCCTCCAGACCTCACAAGACACTTCCAGGTCTGGCCACAAGGTGGAGTGTGGCGGCTGCAGGACAGTGCTGGGGGCCGGGCTGCAGAGGAGACTGGACCTGCGCCGGGTGACCTCCCCGCTCTGTGAAAGTGTGGGAGTTTGTGTCTGTGCATCCAGAGAACCAGAGGGTGGTGGTTGACTTGCCGTGCTCCCCCCAGCCCCCCATTGGGATTGCCTGGGTCTCTGGGGGATCACTGAGAAGCTGGATAAAGAGAGCTGGCACTGTCGCCTTGGCTCACTAACGCCACCATTTTACAGGTGAGGAGACTGA... | CCCTCCATACCCTCCAGACCTCACAAGACACTTCCAGGTCTGGCCACAAGGTGGAGTGTGGCGGCTGCAGGACAGTGCTGGGGGCCGGGCTGCAGAGGAGACTGGACCTGCGCCGGGTGACCTCCCCGCTCTGTGAAAGTGTGGGAGTTTGTGTCTGTGCATCCAGAGAACCAGAGGGTGGTGGTTGACTTGCCGTGCTCCCCCCAGCCCCCCATTGGGATTGCCTGGGTCTCTGGGGGATCACTGAGAAGCTGGATAAAGAGAGCTGGCACTGTCGCCTTGGCTCACTAACGCCACCATTTTACAGGTGAGGAGACTGA... | benign | 149,837 |
Is the chromosome 9, position 123363039 variant in CRB2 (crumbs cell polarity complex component 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GCCCATCTGCTCCCATGGTCCTGGGAAGATCCCTTGTGACAAGGCACCTCCCCCGCCCCCCAGGATCCTTTCCCCGGTGCTGCCTCCCCAGCGTGGTCCCAGCTGCTCTGAGATAGGGGGCAAAGCTTCAGATTGGATGGGCGGGGAGGGGGGGGGGTTCCTTGCACTGCACAGGTGAGGGACAGTGCTCTGTGGGAATTAAGTGAGGGACCTGTTGGCACAGGCGCTGGCAGCCGGGGCCCTTTACCATGGGTTATGAGTGCTGCACCCTCCTGAGCAGTGCTGGCCACACCCAGTCCCAGGGCTGTGCCCTGCATCAC... | GCCCATCTGCTCCCATGGTCCTGGGAAGATCCCTTGTGACAAGGCACCTCCCCCGCCCCCCAGGATCCTTTCCCCGGTGCTGCCTCCCCAGCGTGGTCCCAGCTGCTCTGAGATAGGGGGCAAAGCTTCAGATTGGATGGGCGGGGAGGGGGGGGGGTTCCTTGCACTGCACAGGTGAGGGACAGTGCTCTGTGGGAATTAAGTGAGGGACCTGTTGGCACAGGCGCTGGCAGCCGGGGCCCTTTACCATGGGTTATGAGTGCTGCACCCTCCTGAGCAGTGCTGGCCACACCCAGTCCCAGGGCTGTGCCCTGCATCAC... | benign | 149,847 |
Does the variant on chromosome 9 at location 123367161 affecting gene CRB2 (crumbs cell polarity complex component 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | ATTAGCCGGGTGAGGTGGCATGCACCTGTAATCCCAGCTACTCTGCAATCTGAGGCACAAGAATCACTTGAACCCAGTGGGCAGAGATTGCAGTGGGCTAAGATTGCAGCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAATAAAAAACAAAAACAAACCCAAAACAACTAACTAAAATGTAGGTGGGACCAAGTCACTTACCTGTCTGAAACTTTCAGGATGGACCCAGAGGTTACCTGGTCCCCAAGGCACTGACACCTCCCACCCGACTCACCTCCGCCACCCTCTCCCTTGCTTCCAACC... | ATTAGCCGGGTGAGGTGGCATGCACCTGTAATCCCAGCTACTCTGCAATCTGAGGCACAAGAATCACTTGAACCCAGTGGGCAGAGATTGCAGTGGGCTAAGATTGCAGCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAATAAAAAACAAAAACAAACCCAAAACAACTAACTAAAATGTAGGTGGGACCAAGTCACTTACCTGTCTGAAACTTTCAGGATGGACCCAGAGGTTACCTGGTCCCCAAGGCACTGACACCTCCCACCCGACTCACCTCCGCCACCCTCTCCCTTGCTTCCAACC... | benign | 149,867 |
A genetic variant at chromosome 9, position 123372184, affecting gene CRB2 (crumbs cell polarity complex component 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Inborn_genetic_diseases'] | ATGCCTGTCGGATCCCTGCCTGCACGGCGGAACCTGCAGTGACACTGTGGCAGGCTATATCTGCAGGTGCCCAGAGACCTGGGGTGGGCGCGACTGTTCTGTGCAGCTCACTGGCTGCCAGGGCCACACCTGCCCGCTGGCTGCCACCTGCATCCCTATCTTCGAGTCTGGGGTCCACAGTTACGTCTGCCACTGCCCACCTGGTACCCATGGACCGTTCTGTGGCCAGAATACCACCTTCTCTGTGATGGCTGGGAGCCCCATTCAGGCATCAGTGCCAGCTGGTGGCCCCCTGGGTCTGGCACTGAGGTTTCGCACCA... | ATGCCTGTCGGATCCCTGCCTGCACGGCGGAACCTGCAGTGACACTGTGGCAGGCTATATCTGCAGGTGCCCAGAGACCTGGGGTGGGCGCGACTGTTCTGTGCAGCTCACTGGCTGCCAGGGCCACACCTGCCCGCTGGCTGCCACCTGCATCCCTATCTTCGAGTCTGGGGTCCACAGTTACGTCTGCCACTGCCCACCTGGTACCCATGGACCGTTCTGTGGCCAGAATACCACCTTCTCTGTGATGGCTGGGAGCCCCATTCAGGCATCAGTGCCAGCTGGTGGCCCCCTGGGTCTGGCACTGAGGTTTCGCACCA... | pathogenic | 149,898 |
Clinical classification of chromosome 9, position 123373608, gene CRB2 (crumbs cell polarity complex component 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['CRB2-related_disorder', 'Focal_segmental_glomerulosclerosis_9', 'Inborn_genetic_diseases', 'Steroid-resistant_nephrotic_syndrome', 'Ventriculomegaly-cystic_kidney_disease'] | CTCCGAGGACATGTGCAGTGTAAGTGTCTGGTGGCGGTGGTGGTGGTGGGGTGGGGAGTCCTTTTCCCAGGATCTGTCCTGTGTCACCGGGGCTTAGTGTGTCCTTTTGCTGATGAGGAAACTGAGGCTCAGGAGGTGAAGTGACCTGCCCAGGGTCCCACTACAGGAGGGTGGCAGGGCAGATTTACATCTGTCTCTTCAGCCCAGCTGCTCCTACCCTCTGGCGGTCCCCGTGTCTCCCCGAGCTAGTCCTGGTGTGAGAGAGACACCCTGACCGAGATAGAGAGCTGCCTGAGCCTTTCTGCAGGAGCTACTTGGGG... | CTCCGAGGACATGTGCAGTGTAAGTGTCTGGTGGCGGTGGTGGTGGTGGGGTGGGGAGTCCTTTTCCCAGGATCTGTCCTGTGTCACCGGGGCTTAGTGTGTCCTTTTGCTGATGAGGAAACTGAGGCTCAGGAGGTGAAGTGACCTGCCCAGGGTCCCACTACAGGAGGGTGGCAGGGCAGATTTACATCTGTCTCTTCAGCCCAGCTGCTCCTACCCTCTGGCGGTCCCCGTGTCTCCCCGAGCTAGTCCTGGTGTGAGAGAGACACCCTGACCGAGATAGAGAGCTGCCTGAGCCTTTCTGCAGGAGCTACTTGGGG... | pathogenic | 149,911 |
Is the chromosome 9, position 123373608 variant in CRB2 (crumbs cell polarity complex component 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['CRB2-related_disorder'] | CTCCGAGGACATGTGCAGTGTAAGTGTCTGGTGGCGGTGGTGGTGGTGGGGTGGGGAGTCCTTTTCCCAGGATCTGTCCTGTGTCACCGGGGCTTAGTGTGTCCTTTTGCTGATGAGGAAACTGAGGCTCAGGAGGTGAAGTGACCTGCCCAGGGTCCCACTACAGGAGGGTGGCAGGGCAGATTTACATCTGTCTCTTCAGCCCAGCTGCTCCTACCCTCTGGCGGTCCCCGTGTCTCCCCGAGCTAGTCCTGGTGTGAGAGAGACACCCTGACCGAGATAGAGAGCTGCCTGAGCCTTTCTGCAGGAGCTACTTGGGG... | CTCCGAGGACATGTGCAGTGTAAGTGTCTGGTGGCGGTGGTGGTGGTGGGGTGGGGAGTCCTTTTCCCAGGATCTGTCCTGTGTCACCGGGGCTTAGTGTGTCCTTTTGCTGATGAGGAAACTGAGGCTCAGGAGGTGAAGTGACCTGCCCAGGGTCCCACTACAGGAGGGTGGCAGGGCAGATTTACATCTGTCTCTTCAGCCCAGCTGCTCCTACCCTCTGGCGGTCCCCGTGTCTCCCCGAGCTAGTCCTGGTGTGAGAGAGACACCCTGACCGAGATAGAGAGCTGCCTGAGCCTTTCTGCAGGAGCTACTTGGGG... | pathogenic | 149,912 |
Is the chromosome 9, position 124491109 variant in NR5A1 (nuclear receptor subfamily 5 group A member 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['46,XY_disorder_of_sex_development', '46,XY_sex_reversal_3', 'NR5A1-related_disorder', 'Oligosynaptic_infertility'] | ATCTTCCTTAAGTCCCAGAGAAGGAGAAGTCCTGGATTCACCCCCGGCAGCCGCCAGAGCTATGCACAGGGCTTTGGTGGGAAGAGGGGCTGGGGGCCAAGACAATGTCCCTGCCCTTCAGGGGACACCCAAGGACAGACAGAGCCCTGGCAAAGGAGCCTGCTGGCTGATAGCCCACCCTCCACCTACCCCTCCTTAAGGCCCTCCCAGTGGCCTTGTGATGGCAGCCAGGTCAAGAACTCTCACCTTACAAACCACCCGGACTCCCGCGGACACACACTCCAATTCTAGGTGCCTCCAAGCACCACCCTTCCCCACAA... | ATCTTCCTTAAGTCCCAGAGAAGGAGAAGTCCTGGATTCACCCCCGGCAGCCGCCAGAGCTATGCACAGGGCTTTGGTGGGAAGAGGGGCTGGGGGCCAAGACAATGTCCCTGCCCTTCAGGGGACACCCAAGGACAGACAGAGCCCTGGCAAAGGAGCCTGCTGGCTGATAGCCCACCCTCCACCTACCCCTCCTTAAGGCCCTCCCAGTGGCCTTGTGATGGCAGCCAGGTCAAGAACTCTCACCTTACAAACCACCCGGACTCCCGCGGACACACACTCCAATTCTAGGTGCCTCCAAGCACCACCCTTCCCCACAA... | pathogenic | 149,934 |
Does the genetic variant at chromosome 9, position 124500561, impacting gene NR5A1 (nuclear receptor subfamily 5 group A member 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['46,XY_disorder_of_sex_development', 'Oligosynaptic_infertility'] | CCCTCAATCCAGGGTTCTGGAAGGCCGGGAATGCCCTGCTCCTCCTCCCCTCTGCACGGGGGGTGCATGGGAAGTCTGGAGGGAAGCTAGCAACCAACCCAAGATGCTTGGGGTCCTCATCCCCACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCA... | CCCTCAATCCAGGGTTCTGGAAGGCCGGGAATGCCCTGCTCCTCCTCCCCTCTGCACGGGGGGTGCATGGGAAGTCTGGAGGGAAGCTAGCAACCAACCCAAGATGCTTGGGGTCCTCATCCCCACCAGGGCCTCCAGCCATGAGCAGAAGGCAGGTGGGAGTATTCAAGACCCTGCCTTTTGCCTCATCCATTAGGTCGGACCAGAGAGGCGGGCAGTGTTGAGAAGGGGCTGGGGTGAGAAACCCACCCCATGACAGACACATGGTACATCCCCAGGCCTCAGCCATGACAGGCGCTCCACGGTGGAAGCCGTAGCCA... | pathogenic | 149,953 |
Is the genetic variant on chromosome 9, position 124503188, gene NR5A1 (nuclear receptor subfamily 5 group A member 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['46,XY_disorder_of_sex_development', 'Oligosynaptic_infertility'] | CTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGA... | CTTATCATGCTGAGTGGATCATGCCATGTGCTCCTGCGGGCTAAGTTCTGGGCTCAGGTGTCTAGCATAAGGCCTGGCAGGGAGATGGTGACCGGAAGGGGACCCTGGTCAGCCTTGTTCACCGCTGGCCCCAGGGTCCAGCTGTTTGTTGACTGACTGCCTGACTGTTGAGCTCCTGCTTCAAAATGACTCAAGTATCCTTCACTGGCTGCGAATGTGAAGCCAAGTTTAGAGCTGGCCAAGGCTCTATGCTGGGGGAGGGGACCTCTCTTGCCGACTAGAAGCTCCTCCGCCTGGCGAGGAATGTGTCATCAGCCAGA... | pathogenic | 149,965 |
The mutation impacting LMX1B (LIM homeobox transcription factor 1 beta) on chromosome 9 at position 126615449: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Nail-patella_syndrome'] | AGCAGGCGCCGCCGCCCGGGGGACTCCGACTCAGCCCCCGCGACCTACCTCGGCCGACAGTCGGGGGTTCCCAAGCGGCCACTCCCGGCCGGCGCCGTCCCCTGGCGGAGCCGCCGCGCTCCCTGCCGTCCGCGCAGTCTGGCCTCGCTCGGGGCCACTCCTCGTAGCGCTGGAGCTTTACAAAATATTAATAATAAAGAAGGCAGAGGAGAAAAAAGAAAGCCTTCGCTCCCCAACTCCCAAATCAATTTTTCAAGGGGGTGGAGCAGAGGGATTTGTTTCGAAGACGATCAAAACTTCTGCGAGGGGCCCGCGGGGCG... | AGCAGGCGCCGCCGCCCGGGGGACTCCGACTCAGCCCCCGCGACCTACCTCGGCCGACAGTCGGGGGTTCCCAAGCGGCCACTCCCGGCCGGCGCCGTCCCCTGGCGGAGCCGCCGCGCTCCCTGCCGTCCGCGCAGTCTGGCCTCGCTCGGGGCCACTCCTCGTAGCGCTGGAGCTTTACAAAATATTAATAATAAAGAAGGCAGAGGAGAAAAAAGAAAGCCTTCGCTCCCCAACTCCCAAATCAATTTTTCAAGGGGGTGGAGCAGAGGGATTTGTTTCGAAGACGATCAAAACTTCTGCGAGGGGCCCGCGGGGCG... | pathogenic | 149,996 |
Mutation at chromosome 9, position 126615544, within LMX1B (LIM homeobox transcription factor 1 beta): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Nail-patella_syndrome'] | CGTCCCCTGGCGGAGCCGCCGCGCTCCCTGCCGTCCGCGCAGTCTGGCCTCGCTCGGGGCCACTCCTCGTAGCGCTGGAGCTTTACAAAATATTAATAATAAAGAAGGCAGAGGAGAAAAAAGAAAGCCTTCGCTCCCCAACTCCCAAATCAATTTTTCAAGGGGGTGGAGCAGAGGGATTTGTTTCGAAGACGATCAAAACTTCTGCGAGGGGCCCGCGGGGCGGCCGGGCCGGGGAGCCGGGGCCTGAGCTCGGGGCCAGGCGCGGCGCGGGGCGCGGGCCAGGGGCGCGGAGCCCCGGGGCGCGCGGGGGGGCGGGA... | CGTCCCCTGGCGGAGCCGCCGCGCTCCCTGCCGTCCGCGCAGTCTGGCCTCGCTCGGGGCCACTCCTCGTAGCGCTGGAGCTTTACAAAATATTAATAATAAAGAAGGCAGAGGAGAAAAAAGAAAGCCTTCGCTCCCCAACTCCCAAATCAATTTTTCAAGGGGGTGGAGCAGAGGGATTTGTTTCGAAGACGATCAAAACTTCTGCGAGGGGCCCGCGGGGCGGCCGGGCCGGGGAGCCGGGGCCTGAGCTCGGGGCCAGGCGCGGCGCGGGGCGCGGGCCAGGGGCGCGGAGCCCCGGGGCGCGCGGGGGGGCGGGA... | pathogenic | 150,000 |
Considering the variant on chromosome 9, location 126693802, involving gene LMX1B (LIM homeobox transcription factor 1 beta), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | AGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTA... | AGCCTTCAGCAGTGAGAAGCAAACAGCCTCGAGCCAGCCTCTGTTTCCCAGCCGAAGGGAGGGGGCTGGGCCCTCTGTGCTGGAGGGAAAGACCCCATTTCCCAGGGTGAAGGACCCTCCCTCCTCTGCTCTAGCCCCCAAAAGGACGAGGCCAATTTGAAGGCCTCCTGGCAGACAGGGCAAGCCCAGCCAGGAGTGAGCCTTAAGGAGGGAAAGCCCAGGAGGTGGCTTTGGTCCTTGTTCTTCCTGGGAACAGTGGGGAAGGACTGGAGCAGGAGGCATGGAGAGGAGGTGTCCCGGTCTGCCAGGCCCCATGGGTA... | benign | 150,044 |
Variant on chromosome 9, at position 127479961, affecting LRSAM1 (leucine rich repeat and sterile alpha motif containing 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCATTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAGAACCTAACTCTTGTGTATATGTGTATTGCTGTTTAATTACATCAATAATAAATTAATTAATTAAACACCAATAATTACATTACATTATTGATGTTTAATACCTGCTCCTTGTTATAAATTTAAACAATACAGACAATTACAAACCAAGTGAATGTCAA... | GTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCATTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAGAACCTAACTCTTGTGTATATGTGTATTGCTGTTTAATTACATCAATAATAAATTAATTAATTAAACACCAATAATTACATTACATTATTGATGTTTAATACCTGCTCCTTGTTATAAATTTAAACAATACAGACAATTACAAACCAAGTGAATGTCAA... | benign | 150,153 |
Considering the variant on chromosome 9, location 127495413, involving gene LRSAM1 (leucine rich repeat and sterile alpha motif containing 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2P', 'Charcot-Marie-Tooth_disease_axonal_type_2P-AR', 'Inborn_genetic_diseases'] | CCTGCGGTTTTGATGCATATTTTCCAAACATTGTGATGCACCTTTATAGCTGTTCGTGTATGCGCCTTTTAAACGTGGCATGCTGCATACCCTTTTCGAGCAGCCTGTTTCCGCACATTCTTTTCAAGTCATTAAACTATTCCTTGACGTCCTTTCTCAAGGCTGTCCGTGGCCCCTATTGTTGAGTATGTGGATTACTTCTGGTTTTTAAACTTTTCTAGGCAATGCTCTCCGAATGCCTTTGTAGTCGAGTATTCGGGAACAGCCATGAGTATTCACTCCAGACAGGACTCACTATGTCCAGGGCAGGCCGTTTGATA... | CCTGCGGTTTTGATGCATATTTTCCAAACATTGTGATGCACCTTTATAGCTGTTCGTGTATGCGCCTTTTAAACGTGGCATGCTGCATACCCTTTTCGAGCAGCCTGTTTCCGCACATTCTTTTCAAGTCATTAAACTATTCCTTGACGTCCTTTCTCAAGGCTGTCCGTGGCCCCTATTGTTGAGTATGTGGATTACTTCTGGTTTTTAAACTTTTCTAGGCAATGCTCTCCGAATGCCTTTGTAGTCGAGTATTCGGGAACAGCCATGAGTATTCACTCCAGACAGGACTCACTATGTCCAGGGCAGGCCGTTTGATA... | pathogenic | 150,179 |
The mutation impacting LRSAM1 (leucine rich repeat and sterile alpha motif containing 1) on chromosome 9 at position 127496079: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_axonal_type_2P'] | GCATCAGGTTACTTTGCAGATGGTGCCTTGGCGCTGTGCCTTAGCAGCCAGGTACTATGGCTGGTGCCCCTGCCCTTGTAGGCCTTGGGGGTCACCACCAAAGGAGGAAGCACCGCCCCAGCAGAACACAGCCCATCCGGCTCCTGGGCGCTGGAAGAGAGGGGCTGCAGCCCGGGAGGGCCAACGACGGAAGGGAGCAGTGGGCGTGGCCAGGTCCAGGAGGGGCCCGCAAAGGGCAGTCAGGCCCAGCAGGGATTGAGAAACGCCTGTGTTGATCCCACTCCCCATGTCATGCCAGCCCTCACTGAACAGCTCCGTTG... | GCATCAGGTTACTTTGCAGATGGTGCCTTGGCGCTGTGCCTTAGCAGCCAGGTACTATGGCTGGTGCCCCTGCCCTTGTAGGCCTTGGGGGTCACCACCAAAGGAGGAAGCACCGCCCCAGCAGAACACAGCCCATCCGGCTCCTGGGCGCTGGAAGAGAGGGGCTGCAGCCCGGGAGGGCCAACGACGGAAGGGAGCAGTGGGCGTGGCCAGGTCCAGGAGGGGCCCGCAAAGGGCAGTCAGGCCCAGCAGGGATTGAGAAACGCCTGTGTTGATCCCACTCCCCATGTCATGCCAGCCCTCACTGAACAGCTCCGTTG... | pathogenic | 150,183 |
Variant in LRSAM1 (leucine rich repeat and sterile alpha motif containing 1), chromosome 9, position 127501097—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2P'] | CTGTCTCAAAAAAAAAAAAGAAAAAGAAAAAAACAAATATAGAAGCTGGGTGCAGTGGCTCATGGCTGTAATCCCACACTTTGGGAGGCCTACGTGGGAGGATCACTCAAGCCCAGGAGTTTGAGACCAGCCTGGGCGACATAGGGAGACCCCTTCTCTACAAAAAATAAAATAAAATTAGCTGGGTGTGGTGGTGCACACCTTAGTTCCAGCTACTCGGGGGGCAAAGGTGGGAGGATCGCTTGAGCTTGGGAGGTCGAGGCTGCAGTGAGCCATGATTGTGCCCCTGCACTCCAGCCTGGAAAAGAGTGGGACTGTCT... | CTGTCTCAAAAAAAAAAAAGAAAAAGAAAAAAACAAATATAGAAGCTGGGTGCAGTGGCTCATGGCTGTAATCCCACACTTTGGGAGGCCTACGTGGGAGGATCACTCAAGCCCAGGAGTTTGAGACCAGCCTGGGCGACATAGGGAGACCCCTTCTCTACAAAAAATAAAATAAAATTAGCTGGGTGTGGTGGTGCACACCTTAGTTCCAGCTACTCGGGGGGCAAAGGTGGGAGGATCGCTTGAGCTTGGGAGGTCGAGGCTGCAGTGAGCCATGATTGTGCCCCTGCACTCCAGCCTGGAAAAGAGTGGGACTGTCT... | pathogenic | 150,198 |
Classify the chromosome 9 variant at position 127501103 affecting gene LRSAM1 (leucine rich repeat and sterile alpha motif containing 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_axonal_type_2P'] | CAAAAAAAAAAAAGAAAAAGAAAAAAACAAATATAGAAGCTGGGTGCAGTGGCTCATGGCTGTAATCCCACACTTTGGGAGGCCTACGTGGGAGGATCACTCAAGCCCAGGAGTTTGAGACCAGCCTGGGCGACATAGGGAGACCCCTTCTCTACAAAAAATAAAATAAAATTAGCTGGGTGTGGTGGTGCACACCTTAGTTCCAGCTACTCGGGGGGCAAAGGTGGGAGGATCGCTTGAGCTTGGGAGGTCGAGGCTGCAGTGAGCCATGATTGTGCCCCTGCACTCCAGCCTGGAAAAGAGTGGGACTGTCTCAAAAA... | CAAAAAAAAAAAAGAAAAAGAAAAAAACAAATATAGAAGCTGGGTGCAGTGGCTCATGGCTGTAATCCCACACTTTGGGAGGCCTACGTGGGAGGATCACTCAAGCCCAGGAGTTTGAGACCAGCCTGGGCGACATAGGGAGACCCCTTCTCTACAAAAAATAAAATAAAATTAGCTGGGTGTGGTGGTGCACACCTTAGTTCCAGCTACTCGGGGGGCAAAGGTGGGAGGATCGCTTGAGCTTGGGAGGTCGAGGCTGCAGTGAGCCATGATTGTGCCCCTGCACTCCAGCCTGGAAAAGAGTGGGACTGTCTCAAAAA... | pathogenic | 150,199 |
The mutation in gene LRSAM1 (leucine rich repeat and sterile alpha motif containing 1) at chromosome 9, position 127501115—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_axonal_type_2P', 'Inborn_genetic_diseases'] | AGAAAAAGAAAAAAACAAATATAGAAGCTGGGTGCAGTGGCTCATGGCTGTAATCCCACACTTTGGGAGGCCTACGTGGGAGGATCACTCAAGCCCAGGAGTTTGAGACCAGCCTGGGCGACATAGGGAGACCCCTTCTCTACAAAAAATAAAATAAAATTAGCTGGGTGTGGTGGTGCACACCTTAGTTCCAGCTACTCGGGGGGCAAAGGTGGGAGGATCGCTTGAGCTTGGGAGGTCGAGGCTGCAGTGAGCCATGATTGTGCCCCTGCACTCCAGCCTGGAAAAGAGTGGGACTGTCTCAAAAACAAAACAAAAAA... | AGAAAAAGAAAAAAACAAATATAGAAGCTGGGTGCAGTGGCTCATGGCTGTAATCCCACACTTTGGGAGGCCTACGTGGGAGGATCACTCAAGCCCAGGAGTTTGAGACCAGCCTGGGCGACATAGGGAGACCCCTTCTCTACAAAAAATAAAATAAAATTAGCTGGGTGTGGTGGTGCACACCTTAGTTCCAGCTACTCGGGGGGCAAAGGTGGGAGGATCGCTTGAGCTTGGGAGGTCGAGGCTGCAGTGAGCCATGATTGTGCCCCTGCACTCCAGCCTGGAAAAGAGTGGGACTGTCTCAAAAACAAAACAAAAAA... | pathogenic | 150,200 |
Gene mutation in LRSAM1 (leucine rich repeat and sterile alpha motif containing 1) at chromosome 9, position 127502809—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Charcot-Marie-Tooth_disease_axonal_type_2P', 'Inborn_genetic_diseases'] | CACTTAACAAGCGCTGCGGCCATCCCTGCAGAGAGAGACTTCACTCCCATTCTGCAGATGGGAAATGAGGCTCAGAGAAGAGAAGAAGAGAGTGTGTGGCAAGGAGAGCACTTCCCTCAGATCTGAGAGCAGAGGCTCCCCCACCCTCCAGCTCACTCACCATGGGGATGGGCAGGGCCACAATGAGCCCCCAGGGGTTAGGGTCAGCGGAGATGACCCTGGCTCAGTCTGTCTGTCTGGTCCCCACAGAGCTGAAACCACCAATGGGTGAGGTCGTCACCCCTACGGCCCCCCAGGAGCCTCCTGAGTCTGTGAGGCCA... | CACTTAACAAGCGCTGCGGCCATCCCTGCAGAGAGAGACTTCACTCCCATTCTGCAGATGGGAAATGAGGCTCAGAGAAGAGAAGAAGAGAGTGTGTGGCAAGGAGAGCACTTCCCTCAGATCTGAGAGCAGAGGCTCCCCCACCCTCCAGCTCACTCACCATGGGGATGGGCAGGGCCACAATGAGCCCCCAGGGGTTAGGGTCAGCGGAGATGACCCTGGCTCAGTCTGTCTGTCTGGTCCCCACAGAGCTGAAACCACCAATGGGTGAGGTCGTCACCCCTACGGCCCCCCAGGAGCCTCCTGAGTCTGTGAGGCCA... | pathogenic | 150,209 |
The mutation impacting STXBP1 on chromosome 9 at position 127612441: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_4'] | GCATTACCAGTGCATCCTAGGTCTCCCCATGTTTACACACTATCTCCTCCTCCAAATACACACAGGGGCTATCAATATGTTTCCTGGGCAAAAGGCAAGGCCCAGACATAGAGAGTTGACACATTAACGCCTCCTCTCTCTCTGAACCCATCTGAAGGTTCTGTTGGGGGTAGATTGGGGTGGTGGTGAGAAGATGGTCAAATCTGCTTGACTTGGGGCTGGCGACTGAAGTAGGACATGTAGCCTCTTGTCCTGGCTCAGCCACCACTGGCTTCTGTGACTTTGGAAAATTCCTCCTTAGTTCTCAGCAGGTTTTTTGT... | GCATTACCAGTGCATCCTAGGTCTCCCCATGTTTACACACTATCTCCTCCTCCAAATACACACAGGGGCTATCAATATGTTTCCTGGGCAAAAGGCAAGGCCCAGACATAGAGAGTTGACACATTAACGCCTCCTCTCTCTCTGAACCCATCTGAAGGTTCTGTTGGGGGTAGATTGGGGTGGTGGTGAGAAGATGGTCAAATCTGCTTGACTTGGGGCTGGCGACTGAAGTAGGACATGTAGCCTCTTGTCCTGGCTCAGCCACCACTGGCTTCTGTGACTTTGGAAAATTCCTCCTTAGTTCTCAGCAGGTTTTTTGT... | pathogenic | 150,221 |
Gene mutation in STXBP1 (syntaxin binding protein 1) at chromosome 9, position 127651572—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CCGGCCGTTATCTTTTTTATTTTAAGACAGAATCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTTGGCTTATTGCAACCTCCGATTCCCTGGTTCAAGTGACTCTCCTGCCTCACCCTCCCAAGTGGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTGATTGTTTTTTAAGCAC... | CCGGCCGTTATCTTTTTTATTTTAAGACAGAATCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTTGGCTTATTGCAACCTCCGATTCCCTGGTTCAAGTGACTCTCCTGCCTCACCCTCCCAAGTGGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTGATTGTTTTTTAAGCAC... | benign | 150,223 |
Determine whether the variant at chromosome 9, position 127651587, in gene STXBP1 (syntaxin binding protein 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TTTATTTTAAGACAGAATCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTTGGCTTATTGCAACCTCCGATTCCCTGGTTCAAGTGACTCTCCTGCCTCACCCTCCCAAGTGGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTGATTGTTTTTTAAGCACATGAGTAATACATTG... | TTTATTTTAAGACAGAATCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCTTGGCTTATTGCAACCTCCGATTCCCTGGTTCAAGTGACTCTCCTGCCTCACCCTCCCAAGTGGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTGATTGTTTTTTAAGCACATGAGTAATACATTG... | benign | 150,224 |
Does the genetic variant at chromosome 9, position 127651621, impacting gene STXBP1 (syntaxin binding protein 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Epileptic_encephalopathy'] | GCTGGAGTGCAGTGGCACGATCTTGGCTTATTGCAACCTCCGATTCCCTGGTTCAAGTGACTCTCCTGCCTCACCCTCCCAAGTGGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTGATTGTTTTTTAAGCACATGAGTAATACATTGAATTTTTTCTTTTCTTTTTTTTTTGAGATGGAGT... | GCTGGAGTGCAGTGGCACGATCTTGGCTTATTGCAACCTCCGATTCCCTGGTTCAAGTGACTCTCCTGCCTCACCCTCCCAAGTGGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTGATTGTTTTTTAAGCACATGAGTAATACATTGAATTTTTTCTTTTCTTTTTTTTTTGAGATGGAGT... | pathogenic | 150,226 |
Variant at chromosome 9, position 127653767, gene STXBP1 (syntaxin binding protein 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_4'] | TTGGAGGAAAGTTGTAGGCAGGAATGAGGGCTTTTGCTGTGTCCAGAGAGTACAGAATGCTCCTGGATTGGAGAAAGGTGATCTGCTCTGCCTCACATTTCATATGGTCTTGGTTAAGAATTCTGTTTGTCATAAAGCTTATCTTAAAGACCACCTGGTCAGGCAGTTAGCAGTGGAACTCTTTTGTTCAAACAAAATATTACCTGGAACCCGTTAGATAAAGCAGAGGAAGGTATAATTCTGCTGGCTCTGGGAGAGGAAGAAGAGGCCCTCTTGCCCCTTTGTGGCCATAAAGCATCTCCATGGAGTCCATGTACAGT... | TTGGAGGAAAGTTGTAGGCAGGAATGAGGGCTTTTGCTGTGTCCAGAGAGTACAGAATGCTCCTGGATTGGAGAAAGGTGATCTGCTCTGCCTCACATTTCATATGGTCTTGGTTAAGAATTCTGTTTGTCATAAAGCTTATCTTAAAGACCACCTGGTCAGGCAGTTAGCAGTGGAACTCTTTTGTTCAAACAAAATATTACCTGGAACCCGTTAGATAAAGCAGAGGAAGGTATAATTCTGCTGGCTCTGGGAGAGGAAGAAGAGGCCCTCTTGCCCCTTTGTGGCCATAAAGCATCTCCATGGAGTCCATGTACAGT... | pathogenic | 150,235 |
Is the genetic change at chromosome 9, position 127660014, within gene STXBP1 (syntaxin binding protein 1) benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTCCCACCTCAGCCTCCTGAGTAGCTGGAATTATAGGCACATTCCAACATGCCTGGCTAATTTTTGTAGTTTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAA... | CTCCCACCTCAGCCTCCTGAGTAGCTGGAATTATAGGCACATTCCAACATGCCTGGCTAATTTTTGTAGTTTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAA... | benign | 150,254 |
A mutation at chromosome position 127660014 on chromosome 9 in gene STXBP1 (syntaxin binding protein 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CTCCCACCTCAGCCTCCTGAGTAGCTGGAATTATAGGCACATTCCAACATGCCTGGCTAATTTTTGTAGTTTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAA... | CTCCCACCTCAGCCTCCTGAGTAGCTGGAATTATAGGCACATTCCAACATGCCTGGCTAATTTTTGTAGTTTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAA... | benign | 150,255 |
Benign or pathogenic: chromosome 9, position 127660037, gene STXBP1 (syntaxin binding protein 1) variant? Disease(s) if pathogenic? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_4', 'Infantile_epilepsy_syndrome'] | GCTGGAATTATAGGCACATTCCAACATGCCTGGCTAATTTTTGTAGTTTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAACAGTCTGAAGGTAGCCTGTCTAT... | GCTGGAATTATAGGCACATTCCAACATGCCTGGCTAATTTTTGTAGTTTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAACAGTCTGAAGGTAGCCTGTCTAT... | pathogenic | 150,258 |
The genetic variant at chromosome 9, position 127660037, affecting gene STXBP1 (syntaxin binding protein 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_4'] | GCTGGAATTATAGGCACATTCCAACATGCCTGGCTAATTTTTGTAGTTTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAACAGTCTGAAGGTAGCCTGTCTAT... | GCTGGAATTATAGGCACATTCCAACATGCCTGGCTAATTTTTGTAGTTTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAACAGTCTGAAGGTAGCCTGTCTAT... | pathogenic | 150,259 |
Is chromosome 9, position 127660107, gene STXBP1 (syntaxin binding protein 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_4'] | CCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAACAGTCTGAAGGTAGCCTGTCTATATTGCTTCTGGTTTTATGGTCACCCATCATGTTTTCTTATTCACTGTGGGTTGTTTTGTTGTCTAGTTGT... | CCATGTTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGATGTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCCAGATTTCAGATTCTAACATCTTGGGCATGTTGAGACCATGGAATTCACTCCCAAGGAACGTGGTAACCTTAAGGAATGAGTGAATGATTCCCCCCGGTCCCCCACTGTAGATATTTATCTGCAACAGTCTGAAGGTAGCCTGTCTATATTGCTTCTGGTTTTATGGTCACCCATCATGTTTTCTTATTCACTGTGGGTTGTTTTGTTGTCTAGTTGT... | pathogenic | 150,266 |
The mutation impacting STXBP1 (syntaxin binding protein 1) on chromosome 9 at position 127661161: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | TGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCTGTCTTGGTCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCTCAGCCTTTTTTGTTTTTTTGGGTTGTTGTTGTTGTTTTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTTTTGTTTTTTTTTTGAGACAGGTCTCTCTCCATCACCCAGGCTGGAGTGCAGTGTTGTGATCACAGTTCACTACAGCCCCGACCTCCGGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAACAGCTG... | TGTATTTTTGGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTACCTGTCTTGGTCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACCACTCTCAGCCTTTTTTGTTTTTTTGGGTTGTTGTTGTTGTTTTTTGTTTGTTTGTTTTTGTTTTTGTTTTTTTTTGTTTTTTTTTTGAGACAGGTCTCTCTCCATCACCCAGGCTGGAGTGCAGTGTTGTGATCACAGTTCACTACAGCCCCGACCTCCGGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAACAGCTG... | pathogenic | 150,274 |
Clinical significance of chromosome 9, position 127666254, gene STXBP1 (syntaxin binding protein 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_4', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | TGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATT... | TGGGGGATTTGGACGGGGATGACCACAGTTCTCTGGGAGAGTGAAGGCTGGAGTATAAGCAGGAGTCAGGGCAAGGAAAAACCAGAAGGGGTGGCTAACCAGGAGGCCACTGCAGGAGGAACAAAGGGCCTGGTCTTGGAGTGATGGGAACGGGGTGGACAGGTAAGGACAGAATCTGAGAGCGTGCAGAGGTGGATTCGGAACTGCCAGCAGGTTAGTAGTAGGGCAGGAAGGGCTTAGGCTGCCAAGGCATTGTGCCGTGGTAACCAAGAGCTTGGTGGTGCCACGGATCATGGGTTCACCCATCCTGTGACCTCATT... | pathogenic | 150,313 |
The mutation in gene STXBP1 (syntaxin binding protein 1) at chromosome 9, position 127673243—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Developmental_and_epileptic_encephalopathy,_4'] | CTCATCTCTGCCCCTATCCTTGTTGCCCTGCCTCCTTGCTCCAGCCACACCAGTGTCCTCTTGCCTCAGACCTGGCCAGGTTCTTTGGCTCAGGCATCATTTCCTCAGGGAAACCCTCCCCGGGTCCCTACCCAGACTAGGCAGATGCCTGTGCCACGTGCACCCACACTACCTGGTGAGTCCCCTCGAAGGGCCCTGATCTCTGCAGTGCTTTGGCTCCTCTCCTGGATGCTCTGATTCTCCGTGAATTAGAGATTCTTTTTTTTTTTTCTTTTGTCCTTGTATCTCCAGCACCTAATAGTTCCTGGTATATAGTAGTA... | CTCATCTCTGCCCCTATCCTTGTTGCCCTGCCTCCTTGCTCCAGCCACACCAGTGTCCTCTTGCCTCAGACCTGGCCAGGTTCTTTGGCTCAGGCATCATTTCCTCAGGGAAACCCTCCCCGGGTCCCTACCCAGACTAGGCAGATGCCTGTGCCACGTGCACCCACACTACCTGGTGAGTCCCCTCGAAGGGCCCTGATCTCTGCAGTGCTTTGGCTCCTCTCCTGGATGCTCTGATTCTCCGTGAATTAGAGATTCTTTTTTTTTTTTCTTTTGTCCTTGTATCTCCAGCACCTAATAGTTCCTGGTATATAGTAGTA... | pathogenic | 150,346 |
A mutation at chromosome position 127678443 on chromosome 9 in gene STXBP1 (syntaxin binding protein 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_4', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts', 'Infantile_epilepsy_syndrome'] | TGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATC... | TGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATC... | pathogenic | 150,374 |
A mutation at chromosome position 127678443 on chromosome 9 in gene STXBP1 (syntaxin binding protein 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Developmental_and_epileptic_encephalopathy,_4', 'Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | TGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATC... | TGGGCAGGGGTTGCTGAGAAGCCGGGGGGCAGATGGAAACACAGACTATAGGGGCAGCTGCTGATGGTCCTCACTCAGGCAGAGTGGCTGGAGGGGAATCGGGATCCTCGTGTTGTCCTCACCTATAGTGAATCTGATGAGGTGGGGGAGCAATGTCCACTAACCCTGAGGGGAGAAGGGCCACCATCCGGCCTGTCCCATTGGGTGCATGGGGGCTGTGTGTGGTGATCGGGTGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCCAGATACCCCCGGAGGATAGTGAGATCATC... | pathogenic | 150,375 |
Mutation found at chromosome 9 position 127682387, gene STXBP1 (syntaxin binding protein 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AGCCCTCTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTC... | AGCCCTCTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTC... | benign | 150,387 |
The chromosome 9, position 127682387 genetic variant in gene STXBP1 (syntaxin binding protein 1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | AGCCCTCTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTC... | AGCCCTCTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTC... | benign | 150,388 |
The mutation in gene STXBP1 (syntaxin binding protein 1) at chromosome 9, position 127682393—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCAT... | CTCGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCAT... | benign | 150,390 |
Is chromosome 9, position 127682395, gene STXBP1 (syntaxin binding protein 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTT... | CGCTGCTGCTCCCCACAGCTGCAGCGTGGGCCAGGTCTGCACAGTGGTCCCACGGCCCTTCCCCCTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTT... | benign | 150,391 |
Gene mutation in STXBP1 (syntaxin binding protein 1) at chromosome 9, position 127682459—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Early_infantile_epileptic_encephalopathy_with_suppression_bursts'] | CTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCA... | CTCCAGCATCCCGTTCCTCTCTGATTCATCCCTCACACCTCCTCCCTCGCTCACTCTGCATCAGCCATGCCAGCTTCCTCGCACTTCTCAAACAGTCAGGCTTACGTCTGCCTCAGGACCACTGCACTTGCTTTTCCCTCTGCCTGAAATTATCTGTCCCCAGATATGTCTGCATGGGCTGGGCACAGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGAATCACTTGAGGTCAGGCATTTGAGACCAGCCTGGCGAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCA... | pathogenic | 150,396 |
Mutation at chromosome 9, position 127815808, within ENG (endoglin): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TTTTTTAAGGCTCTGTGCCTTGGTCTCTCCTTCCTCTTGGCTGAGATAGCAGAGGGGCTCCCCGGGTCTCTCACTGTTGCAGTGGCCTGGCCGTTCAGCCTGTCTCCCCCAACACCCCGCCTGCCTCCTGGCTCAGGCCCAGCTTATTGTGTGCGCTGCCTGGCCAGGCCCTGGGTCTTGCCATGTGCTGGGTGGTAGATTTCCTCCTCCCAGTGCCTTCTGGGAAGGGAGAGGGCCTCTGCCTGGGACACTGCGGGACAGAGGGTGGCTGGAGTGAATTAAAGCCTTTGTTTTTTAAAGAAATGGCAAAGCCTTCGACT... | TTTTTTAAGGCTCTGTGCCTTGGTCTCTCCTTCCTCTTGGCTGAGATAGCAGAGGGGCTCCCCGGGTCTCTCACTGTTGCAGTGGCCTGGCCGTTCAGCCTGTCTCCCCCAACACCCCGCCTGCCTCCTGGCTCAGGCCCAGCTTATTGTGTGCGCTGCCTGGCCAGGCCCTGGGTCTTGCCATGTGCTGGGTGGTAGATTTCCTCCTCCCAGTGCCTTCTGGGAAGGGAGAGGGCCTCTGCCTGGGACACTGCGGGACAGAGGGTGGCTGGAGTGAATTAAAGCCTTTGTTTTTTAAAGAAATGGCAAAGCCTTCGACT... | benign | 150,425 |
Mutation at chromosome 9, position 127815808, within ENG (endoglin): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TTTTTTAAGGCTCTGTGCCTTGGTCTCTCCTTCCTCTTGGCTGAGATAGCAGAGGGGCTCCCCGGGTCTCTCACTGTTGCAGTGGCCTGGCCGTTCAGCCTGTCTCCCCCAACACCCCGCCTGCCTCCTGGCTCAGGCCCAGCTTATTGTGTGCGCTGCCTGGCCAGGCCCTGGGTCTTGCCATGTGCTGGGTGGTAGATTTCCTCCTCCCAGTGCCTTCTGGGAAGGGAGAGGGCCTCTGCCTGGGACACTGCGGGACAGAGGGTGGCTGGAGTGAATTAAAGCCTTTGTTTTTTAAAGAAATGGCAAAGCCTTCGACT... | TTTTTTAAGGCTCTGTGCCTTGGTCTCTCCTTCCTCTTGGCTGAGATAGCAGAGGGGCTCCCCGGGTCTCTCACTGTTGCAGTGGCCTGGCCGTTCAGCCTGTCTCCCCCAACACCCCGCCTGCCTCCTGGCTCAGGCCCAGCTTATTGTGTGCGCTGCCTGGCCAGGCCCTGGGTCTTGCCATGTGCTGGGTGGTAGATTTCCTCCTCCCAGTGCCTTCTGGGAAGGGAGAGGGCCTCTGCCTGGGACACTGCGGGACAGAGGGTGGCTGGAGTGAATTAAAGCCTTTGTTTTTTAAAGAAATGGCAAAGCCTTCGACT... | benign | 150,426 |
Determine if the mutation at chromosome 9, position 127817152 in gene ENG is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | GACCGGCAGAGGGGGCTCCATGTGGCAGGAGCTAGGCTCCCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGG... | GACCGGCAGAGGGGGCTCCATGTGGCAGGAGCTAGGCTCCCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGG... | pathogenic | 150,445 |
Regarding the variant at chromosome 9 and position 127817188, affecting gene ENG: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Telangiectasia,_hereditary_hemorrhagic,_type_1'] | CTCCCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGAC... | CTCCCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGAC... | pathogenic | 150,449 |
Determine if the mutation at chromosome 9, position 127817190 in gene ENG is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_hemorrhagic_telangiectasia', 'Telangiectasia,_hereditary_hemorrhagic,_type_1'] | CCCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCC... | CCCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCC... | pathogenic | 150,450 |
Is the chromosome 9, position 127817191 variant in ENG clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_hemorrhagic_telangiectasia'] | CCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCA... | CCAACGCCCACTGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCA... | pathogenic | 150,451 |
Variant chromosome 9, position 127817202, gene ENG: benign or pathogenic? Disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'ENG-related_disorder', 'Hereditary_hemorrhagic_telangiectasia'] | TGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAG... | TGTTCTTGCCACCCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAG... | pathogenic | 150,452 |
Gene mutation in ENG at chromosome 9, position 127817214—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAGGTTCTGTGGGGT... | CCTCTGGGCTCCCAGGCTGGGCTCCGCTAGGCTCCTGTCTCCCCTGCCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGTGGCTCTGGGCTGGGCCCTCTTCTCTTCCCAGCGGGGAGGTGCTGTTGGCCTGGCTGGGCTGGCCTGAATCTGTTTCAAGTTCTCCCTTCCTGCCCAGCTCAGTTCACCAGTGCTGGATCCAGGTTCAAATGACAGGGACTTGGGTTTTTACAACAGCGTGGCAAGTGGTCTGTCTCCTGGGCAGCCATATCCCAGACCCACTGGGTTGAAGGTTCTGTGGGGT... | benign | 150,457 |
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