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 |
|---|---|---|---|---|---|
The genetic variant at chromosome 7, position 107683351, affecting gene SLC26A4 (solute carrier family 26 member 4): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Pendred_syndrome'] | AGCTTCTCCCCCATTTCCTTACTCTTCTTGAATGTGTTCCAGAGAGCTGAGGTTGCTGGCAAAGTGACTCCTAGATTACTTAAGGTTCATTAAGTACTTAAAGTTCATTAAGCTCATACATAATTGTCACCAGATTATCATTATAATTATTTTAAAAGTAGTTTATCTGTGAAAATAAGTAAAATACATTTTATAAATGTTATAAACTATAAGATGCTCCATTATTTTATCTTCCTATAAAATATGTCTATAAAAAAGCTCATTTAAAGAAAAGTTACCTTCACTGTGAGATTGTCTCAAAGAAATGTCTCAAAGATACC... | AGCTTCTCCCCCATTTCCTTACTCTTCTTGAATGTGTTCCAGAGAGCTGAGGTTGCTGGCAAAGTGACTCCTAGATTACTTAAGGTTCATTAAGTACTTAAAGTTCATTAAGCTCATACATAATTGTCACCAGATTATCATTATAATTATTTTAAAAGTAGTTTATCTGTGAAAATAAGTAAAATACATTTTATAAATGTTATAAACTATAAGATGCTCCATTATTTTATCTTCCTATAAAATATGTCTATAAAAAAGCTCATTTAAAGAAAAGTTACCTTCACTGTGAGATTGTCTCAAAGAAATGTCTCAAAGATACC... | pathogenic | 124,401 |
Does the variant impacting SLC26A4 (solute carrier family 26 member 4) on chromosome 7, position 107683494, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Ear_malformation'] | TAATTATTTTAAAAGTAGTTTATCTGTGAAAATAAGTAAAATACATTTTATAAATGTTATAAACTATAAGATGCTCCATTATTTTATCTTCCTATAAAATATGTCTATAAAAAAGCTCATTTAAAGAAAAGTTACCTTCACTGTGAGATTGTCTCAAAGAAATGTCTCAAAGATACCTTCTTAAATCCTGCCTTCTACAGGACTGAAGTTAATATAACAAAGATATTAGTGTTCTTCCTTGGGATTCTTCCTTGCTAATTTCCTTGAAAACACCCTTGATTCCCAGAAGTCTCCTATTTACAAAACAAAACTAGTTTTTC... | TAATTATTTTAAAAGTAGTTTATCTGTGAAAATAAGTAAAATACATTTTATAAATGTTATAAACTATAAGATGCTCCATTATTTTATCTTCCTATAAAATATGTCTATAAAAAAGCTCATTTAAAGAAAAGTTACCTTCACTGTGAGATTGTCTCAAAGAAATGTCTCAAAGATACCTTCTTAAATCCTGCCTTCTACAGGACTGAAGTTAATATAACAAAGATATTAGTGTTCTTCCTTGGGATTCTTCCTTGCTAATTTCCTTGAAAACACCCTTGATTCCCAGAAGTCTCCTATTTACAAAACAAAACTAGTTTTTC... | pathogenic | 124,407 |
Classify the chromosome 7 variant at position 107689051 affecting gene SLC26A4 (solute carrier family 26 member 4) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4'] | AGTGGTGGTGCATTTGCCAAGTGTTCAGACCCAGTCTGAAGTACTCTGGTATTCTGTTTGGTATTCTGTTTATGACGCTGGCCTGTCGTTTGTGGAATTTTGGGCCCTTCAGGGTTCACTTCTCCCGGTCTTCATCTTTTCAGATAAGTGTGTGTTCACATGCTCACTCCCTTGGGCTCTTCATAGTGTTGTCTTATGATCAGGCCTGACATGCTTGGCTGGGGCCAAACAGGCCCACTGAGCAAAAAATTTGGAGAGTTATATCCACAGAAGGAGGGCAAGGGCAAGGGCAAGGACAAAAGGCTTACTTACAGGTCATT... | AGTGGTGGTGCATTTGCCAAGTGTTCAGACCCAGTCTGAAGTACTCTGGTATTCTGTTTGGTATTCTGTTTATGACGCTGGCCTGTCGTTTGTGGAATTTTGGGCCCTTCAGGGTTCACTTCTCCCGGTCTTCATCTTTTCAGATAAGTGTGTGTTCACATGCTCACTCCCTTGGGCTCTTCATAGTGTTGTCTTATGATCAGGCCTGACATGCTTGGCTGGGGCCAAACAGGCCCACTGAGCAAAAAATTTGGAGAGTTATATCCACAGAAGGAGGGCAAGGGCAAGGGCAAGGACAAAAGGCTTACTTACAGGTCATT... | pathogenic | 124,415 |
Determine if the mutation at chromosome 7, position 107689104 in gene SLC26A4 (solute carrier family 26 member 4) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4'] | CTGTTTGGTATTCTGTTTATGACGCTGGCCTGTCGTTTGTGGAATTTTGGGCCCTTCAGGGTTCACTTCTCCCGGTCTTCATCTTTTCAGATAAGTGTGTGTTCACATGCTCACTCCCTTGGGCTCTTCATAGTGTTGTCTTATGATCAGGCCTGACATGCTTGGCTGGGGCCAAACAGGCCCACTGAGCAAAAAATTTGGAGAGTTATATCCACAGAAGGAGGGCAAGGGCAAGGGCAAGGACAAAAGGCTTACTTACAGGTCATTAGAAGATATCCAGACGGGACTTCAATTGGTTTGGGGCAAATAATTGGCACACT... | CTGTTTGGTATTCTGTTTATGACGCTGGCCTGTCGTTTGTGGAATTTTGGGCCCTTCAGGGTTCACTTCTCCCGGTCTTCATCTTTTCAGATAAGTGTGTGTTCACATGCTCACTCCCTTGGGCTCTTCATAGTGTTGTCTTATGATCAGGCCTGACATGCTTGGCTGGGGCCAAACAGGCCCACTGAGCAAAAAATTTGGAGAGTTATATCCACAGAAGGAGGGCAAGGGCAAGGGCAAGGACAAAAGGCTTACTTACAGGTCATTAGAAGATATCCAGACGGGACTTCAATTGGTTTGGGGCAAATAATTGGCACACT... | pathogenic | 124,419 |
Determine whether the variant at chromosome 7, position 107689196, in gene SLC26A4 (solute carrier family 26 member 4) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Pendred_syndrome'] | AAGTGTGTGTTCACATGCTCACTCCCTTGGGCTCTTCATAGTGTTGTCTTATGATCAGGCCTGACATGCTTGGCTGGGGCCAAACAGGCCCACTGAGCAAAAAATTTGGAGAGTTATATCCACAGAAGGAGGGCAAGGGCAAGGGCAAGGACAAAAGGCTTACTTACAGGTCATTAGAAGATATCCAGACGGGACTTCAATTGGTTTGGGGCAAATAATTGGCACACTTAGGGTTCAGCAAGACAGCAGACATGAGTGGCAGGAGTATGACAGACTTAGATTCTCCCAATATATACCAAGAACCTACTATATGTGTAGAC... | AAGTGTGTGTTCACATGCTCACTCCCTTGGGCTCTTCATAGTGTTGTCTTATGATCAGGCCTGACATGCTTGGCTGGGGCCAAACAGGCCCACTGAGCAAAAAATTTGGAGAGTTATATCCACAGAAGGAGGGCAAGGGCAAGGGCAAGGACAAAAGGCTTACTTACAGGTCATTAGAAGATATCCAGACGGGACTTCAATTGGTTTGGGGCAAATAATTGGCACACTTAGGGTTCAGCAAGACAGCAGACATGAGTGGCAGGAGTATGACAGACTTAGATTCTCCCAATATATACCAAGAACCTACTATATGTGTAGAC... | pathogenic | 124,424 |
Is chromosome 7, position 107690135, gene SLC26A4 (solute carrier family 26 member 4) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Hearing_loss,_autosomal_recessive'] | CTGACATCAAGCAAATCACTTCACGTTTCCAGGTCTAAGTTCCTTTATCAACAAGACAAGACAAGAGTGGTGGATTCAACAATACCTAGGATGCTTTCTCTATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTAT... | CTGACATCAAGCAAATCACTTCACGTTTCCAGGTCTAAGTTCCTTTATCAACAAGACAAGACAAGAGTGGTGGATTCAACAATACCTAGGATGCTTTCTCTATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTAT... | pathogenic | 124,434 |
Considering the variant on chromosome 7, location 107690151, involving gene SLC26A4 (solute carrier family 26 member 4), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Pendred_syndrome'] | CACTTCACGTTTCCAGGTCTAAGTTCCTTTATCAACAAGACAAGACAAGAGTGGTGGATTCAACAATACCTAGGATGCTTTCTCTATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTATAATGTGTAGGTTAATT... | CACTTCACGTTTCCAGGTCTAAGTTCCTTTATCAACAAGACAAGACAAGAGTGGTGGATTCAACAATACCTAGGATGCTTTCTCTATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTATAATGTGTAGGTTAATT... | pathogenic | 124,436 |
Does the genetic variant at chromosome 7, position 107690170, impacting gene SLC26A4 (solute carrier family 26 member 4), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Hearing_loss,_autosomal_recessive', 'Pendred_syndrome', 'Rare_genetic_deafness'] | TAAGTTCCTTTATCAACAAGACAAGACAAGAGTGGTGGATTCAACAATACCTAGGATGCTTTCTCTATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTATAATGTGTAGGTTAATTTTTTTATATGGTTTGTAGG... | TAAGTTCCTTTATCAACAAGACAAGACAAGAGTGGTGGATTCAACAATACCTAGGATGCTTTCTCTATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTATAATGTGTAGGTTAATTTTTTTATATGGTTTGTAGG... | pathogenic | 124,437 |
Is the genetic change at chromosome 7, position 107690193, within gene SLC26A4 (solute carrier family 26 member 4) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Pendred_syndrome'] | AGACAAGAGTGGTGGATTCAACAATACCTAGGATGCTTTCTCTATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTATAATGTGTAGGTTAATTTTTTTATATGGTTTGTAGGGTAGCTCTGGTTTTGTCAAACAG... | AGACAAGAGTGGTGGATTCAACAATACCTAGGATGCTTTCTCTATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTATAATGTGTAGGTTAATTTTTTTATATGGTTTGTAGGGTAGCTCTGGTTTTGTCAAACAG... | pathogenic | 124,439 |
For chromosome 7, position 107690211, gene SLC26A4 (solute carrier family 26 member 4): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Pendred_syndrome'] | CAACAATACCTAGGATGCTTTCTCTATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTATAATGTGTAGGTTAATTTTTTTATATGGTTTGTAGGGTAGCTCTGGTTTTGTCAAACAGTAGTCATTGGACCCCACA... | CAACAATACCTAGGATGCTTTCTCTATGGTTTTCTCTAAGAACCTTATTTCTATTTTATTTTTACCACTGTTCTCTAATTATAGGGGAAAATGTAGTTTCCTTATTAAAGAAACTTTAGGCATAAGTGATGTAGGTCGGGGAGACCTTTCATGGCTGGGGGCCTCTGGAATTATACCATATGGATAGTCATCAAGATATAGGTCCATCTCCCAAATTTTCATATTTGAGAGAACCTCGTGGTATAATGTGTAGGTTAATTTTTTTATATGGTTTGTAGGGTAGCTCTGGTTTTGTCAAACAGTAGTCATTGGACCCCACA... | pathogenic | 124,447 |
A genetic variant on chromosome 7, position 107694418, affects the gene SLC26A4 (solute carrier family 26 member 4). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Pendred_syndrome', 'Rare_genetic_deafness'] | ATGTTGGAACTTCAGTTTCAGCATCTACAAAATGGAAATGATAATTGCATCCATTTCACAGGGATATTGTGAGGATTAGGCAAGAAAATGTAAAGCCTTAGCACATACTTGTAAATGCTCATTGTTTCACTCCTTTAGGCAAGAATAGCATCTTAGCATCTATGATACATATATTGTGCCTGGCACATAAGAAGCACCTGGCATATATTTGCTGAATGAATGAATGGAAGAATGAGTATTGGTGGACACGAACTGTTTTTAGCACATCTACAGATTGTAGAAGAATTAAACATTGGAACCTTTTCTTTCCCTCACCCCCA... | ATGTTGGAACTTCAGTTTCAGCATCTACAAAATGGAAATGATAATTGCATCCATTTCACAGGGATATTGTGAGGATTAGGCAAGAAAATGTAAAGCCTTAGCACATACTTGTAAATGCTCATTGTTTCACTCCTTTAGGCAAGAATAGCATCTTAGCATCTATGATACATATATTGTGCCTGGCACATAAGAAGCACCTGGCATATATTTGCTGAATGAATGAATGGAAGAATGAGTATTGGTGGACACGAACTGTTTTTAGCACATCTACAGATTGTAGAAGAATTAAACATTGGAACCTTTTCTTTCCCTCACCCCCA... | pathogenic | 124,456 |
Chromosome 7, position 107694479, gene SLC26A4 (solute carrier family 26 member 4): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Pendred_syndrome', 'Rare_genetic_deafness'] | GGATATTGTGAGGATTAGGCAAGAAAATGTAAAGCCTTAGCACATACTTGTAAATGCTCATTGTTTCACTCCTTTAGGCAAGAATAGCATCTTAGCATCTATGATACATATATTGTGCCTGGCACATAAGAAGCACCTGGCATATATTTGCTGAATGAATGAATGGAAGAATGAGTATTGGTGGACACGAACTGTTTTTAGCACATCTACAGATTGTAGAAGAATTAAACATTGGAACCTTTTCTTTCCCTCACCCCCATCTGACTTCCACTGACTCACAGAAAAGTAATTCTGATTACAAACCACTCTTTAGCTCTGAT... | GGATATTGTGAGGATTAGGCAAGAAAATGTAAAGCCTTAGCACATACTTGTAAATGCTCATTGTTTCACTCCTTTAGGCAAGAATAGCATCTTAGCATCTATGATACATATATTGTGCCTGGCACATAAGAAGCACCTGGCATATATTTGCTGAATGAATGAATGGAAGAATGAGTATTGGTGGACACGAACTGTTTTTAGCACATCTACAGATTGTAGAAGAATTAAACATTGGAACCTTTTCTTTCCCTCACCCCCATCTGACTTCCACTGACTCACAGAAAAGTAATTCTGATTACAAACCACTCTTTAGCTCTGAT... | pathogenic | 124,462 |
Clinical classification of chromosome 7, position 107694617, gene SLC26A4 (solute carrier family 26 member 4): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Pendred_syndrome', 'Rare_genetic_deafness', 'SLC26A4-related_disorder'] | GGCATATATTTGCTGAATGAATGAATGGAAGAATGAGTATTGGTGGACACGAACTGTTTTTAGCACATCTACAGATTGTAGAAGAATTAAACATTGGAACCTTTTCTTTCCCTCACCCCCATCTGACTTCCACTGACTCACAGAAAAGTAATTCTGATTACAAACCACTCTTTAGCTCTGATTACCCCCTCCCTTAACAGAATAATTTTTTAGTAACTGAATCTGGTTGTAGATATAAAGTCTACAGAGTTTCTCACAAACAAGCCTTATCAAGTAAGTAGAAATAATTGATCACTCACCAATTTTAATATAGTGGCCAA... | GGCATATATTTGCTGAATGAATGAATGGAAGAATGAGTATTGGTGGACACGAACTGTTTTTAGCACATCTACAGATTGTAGAAGAATTAAACATTGGAACCTTTTCTTTCCCTCACCCCCATCTGACTTCCACTGACTCACAGAAAAGTAATTCTGATTACAAACCACTCTTTAGCTCTGATTACCCCCTCCCTTAACAGAATAATTTTTTAGTAACTGAATCTGGTTGTAGATATAAAGTCTACAGAGTTTCTCACAAACAAGCCTTATCAAGTAAGTAGAAATAATTGATCACTCACCAATTTTAATATAGTGGCCAA... | pathogenic | 124,465 |
Clinically, how would you classify the variant at chromosome 7, position 107694621, gene SLC26A4 (solute carrier family 26 member 4): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4'] | TATATTTGCTGAATGAATGAATGGAAGAATGAGTATTGGTGGACACGAACTGTTTTTAGCACATCTACAGATTGTAGAAGAATTAAACATTGGAACCTTTTCTTTCCCTCACCCCCATCTGACTTCCACTGACTCACAGAAAAGTAATTCTGATTACAAACCACTCTTTAGCTCTGATTACCCCCTCCCTTAACAGAATAATTTTTTAGTAACTGAATCTGGTTGTAGATATAAAGTCTACAGAGTTTCTCACAAACAAGCCTTATCAAGTAAGTAGAAATAATTGATCACTCACCAATTTTAATATAGTGGCCAAAATG... | TATATTTGCTGAATGAATGAATGGAAGAATGAGTATTGGTGGACACGAACTGTTTTTAGCACATCTACAGATTGTAGAAGAATTAAACATTGGAACCTTTTCTTTCCCTCACCCCCATCTGACTTCCACTGACTCACAGAAAAGTAATTCTGATTACAAACCACTCTTTAGCTCTGATTACCCCCTCCCTTAACAGAATAATTTTTTAGTAACTGAATCTGGTTGTAGATATAAAGTCTACAGAGTTTCTCACAAACAAGCCTTATCAAGTAAGTAGAAATAATTGATCACTCACCAATTTTAATATAGTGGCCAAAATG... | pathogenic | 124,466 |
Determine whether the variant at chromosome 7, position 107696013, in gene SLC26A4 (solute carrier family 26 member 4) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Pendred_syndrome'] | TAATGCAGAAAAATCAGCTATGTGCCATGAGAATTTATTTCCCAAGAATACGACAATGATCTCTGTTGTTGGGAAAGGGGGGATTGGTCCATGTTTCCTGCCATGGTAAATAACTAGAAGCTTGGCCTGAATGGACGCCGAAACCGCAGGTGTGTACTATCACCAAATAAAATCCCTGTCAAACTGGCTTTAATTTCATAGGATCAGTCCCCATATTTTCTTTAACTTCTCTGCCATAGCATATATAGATGCCATTTTTGTTCAGTTTTGTGGCTTGAGCAAATAACTATCACTTTTCTCGACAGTATTGAGCAGAAGGG... | TAATGCAGAAAAATCAGCTATGTGCCATGAGAATTTATTTCCCAAGAATACGACAATGATCTCTGTTGTTGGGAAAGGGGGGATTGGTCCATGTTTCCTGCCATGGTAAATAACTAGAAGCTTGGCCTGAATGGACGCCGAAACCGCAGGTGTGTACTATCACCAAATAAAATCCCTGTCAAACTGGCTTTAATTTCATAGGATCAGTCCCCATATTTTCTTTAACTTCTCTGCCATAGCATATATAGATGCCATTTTTGTTCAGTTTTGTGGCTTGAGCAAATAACTATCACTTTTCTCGACAGTATTGAGCAGAAGGG... | pathogenic | 124,483 |
Is the chromosome 7, position 107696027 variant in SLC26A4 (solute carrier family 26 member 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4'] | CAGCTATGTGCCATGAGAATTTATTTCCCAAGAATACGACAATGATCTCTGTTGTTGGGAAAGGGGGGATTGGTCCATGTTTCCTGCCATGGTAAATAACTAGAAGCTTGGCCTGAATGGACGCCGAAACCGCAGGTGTGTACTATCACCAAATAAAATCCCTGTCAAACTGGCTTTAATTTCATAGGATCAGTCCCCATATTTTCTTTAACTTCTCTGCCATAGCATATATAGATGCCATTTTTGTTCAGTTTTGTGGCTTGAGCAAATAACTATCACTTTTCTCGACAGTATTGAGCAGAAGGGGGAGACAGGGAAGT... | CAGCTATGTGCCATGAGAATTTATTTCCCAAGAATACGACAATGATCTCTGTTGTTGGGAAAGGGGGGATTGGTCCATGTTTCCTGCCATGGTAAATAACTAGAAGCTTGGCCTGAATGGACGCCGAAACCGCAGGTGTGTACTATCACCAAATAAAATCCCTGTCAAACTGGCTTTAATTTCATAGGATCAGTCCCCATATTTTCTTTAACTTCTCTGCCATAGCATATATAGATGCCATTTTTGTTCAGTTTTGTGGCTTGAGCAAATAACTATCACTTTTCTCGACAGTATTGAGCAGAAGGGGGAGACAGGGAAGT... | pathogenic | 124,485 |
Is chromosome 7, position 107698026, gene SLC26A4 (solute carrier family 26 member 4) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GATCTCGGTTTACTAGCTGGCCTTATATTTGGACTGTTGACTGTGGTCCTGAGAGTTCAGTTGTGAGTAACGTAAAACCCAGATTTCCTATAAACAGAACAACACACTCTGAGCTTCCTTATACCATTTTGATAAATATAGTGAAGCCACTTTCTTTCGTTATAGTTACTGTATATTGAGTGCTTCTATGCATTAAGCAGACAGTGTTTTACAGACATACTTAATCTTCAAAAATAGCCTATGAATAGTTTTGATTAGTCTCATTCTACAGGTGAGAAAAGAGAAATTCAGAAAAGCTAAGAAGCATCCCTAAGATCACA... | GATCTCGGTTTACTAGCTGGCCTTATATTTGGACTGTTGACTGTGGTCCTGAGAGTTCAGTTGTGAGTAACGTAAAACCCAGATTTCCTATAAACAGAACAACACACTCTGAGCTTCCTTATACCATTTTGATAAATATAGTGAAGCCACTTTCTTTCGTTATAGTTACTGTATATTGAGTGCTTCTATGCATTAAGCAGACAGTGTTTTACAGACATACTTAATCTTCAAAAATAGCCTATGAATAGTTTTGATTAGTCTCATTCTACAGGTGAGAAAAGAGAAATTCAGAAAAGCTAAGAAGCATCCCTAAGATCACA... | benign | 124,491 |
Clinical classification of chromosome 7, position 107698042, gene SLC26A4 (solute carrier family 26 member 4): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Pendred_syndrome'] | CTGGCCTTATATTTGGACTGTTGACTGTGGTCCTGAGAGTTCAGTTGTGAGTAACGTAAAACCCAGATTTCCTATAAACAGAACAACACACTCTGAGCTTCCTTATACCATTTTGATAAATATAGTGAAGCCACTTTCTTTCGTTATAGTTACTGTATATTGAGTGCTTCTATGCATTAAGCAGACAGTGTTTTACAGACATACTTAATCTTCAAAAATAGCCTATGAATAGTTTTGATTAGTCTCATTCTACAGGTGAGAAAAGAGAAATTCAGAAAAGCTAAGAAGCATCCCTAAGATCACACAGCTAGTACGTGGCA... | CTGGCCTTATATTTGGACTGTTGACTGTGGTCCTGAGAGTTCAGTTGTGAGTAACGTAAAACCCAGATTTCCTATAAACAGAACAACACACTCTGAGCTTCCTTATACCATTTTGATAAATATAGTGAAGCCACTTTCTTTCGTTATAGTTACTGTATATTGAGTGCTTCTATGCATTAAGCAGACAGTGTTTTACAGACATACTTAATCTTCAAAAATAGCCTATGAATAGTTTTGATTAGTCTCATTCTACAGGTGAGAAAAGAGAAATTCAGAAAAGCTAAGAAGCATCCCTAAGATCACACAGCTAGTACGTGGCA... | pathogenic | 124,493 |
Considering the variant on chromosome 7, location 107700115, involving gene SLC26A4 (solute carrier family 26 member 4), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4'] | ATCCCTAGCACAGATATCTACAAAAGTACCAAGAATTACAAAAACGTAAGTACCTTTGTGAGACATTTGCTGGACTTGGGTTTACTAGCCTGAAGTTTCAGCAGCTCCATTTTACGTACAAGGTAGCCAAAGGGAGAAAATGCCTATTGGGAAAGTCTGTTAGTCCACAGGGAGTGTCATGAAAACTTTTGATCCAGTGCACCTTCTGACACCCATGGCTTATGTGAATTTTGTCTATGCTAGCTGAATGTCTTTTTTTTTTTTTCTTTTTAGATGGAGTCTCACTCTTCACCCAGGCTGGAGTGCAGAGGCAGGATCTC... | ATCCCTAGCACAGATATCTACAAAAGTACCAAGAATTACAAAAACGTAAGTACCTTTGTGAGACATTTGCTGGACTTGGGTTTACTAGCCTGAAGTTTCAGCAGCTCCATTTTACGTACAAGGTAGCCAAAGGGAGAAAATGCCTATTGGGAAAGTCTGTTAGTCCACAGGGAGTGTCATGAAAACTTTTGATCCAGTGCACCTTCTGACACCCATGGCTTATGTGAATTTTGTCTATGCTAGCTGAATGTCTTTTTTTTTTTTTCTTTTTAGATGGAGTCTCACTCTTCACCCAGGCTGGAGTGCAGAGGCAGGATCTC... | pathogenic | 124,509 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 107700154, gene SLC26A4 (solute carrier family 26 member 4). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Pendred_syndrome'] | AAAAACGTAAGTACCTTTGTGAGACATTTGCTGGACTTGGGTTTACTAGCCTGAAGTTTCAGCAGCTCCATTTTACGTACAAGGTAGCCAAAGGGAGAAAATGCCTATTGGGAAAGTCTGTTAGTCCACAGGGAGTGTCATGAAAACTTTTGATCCAGTGCACCTTCTGACACCCATGGCTTATGTGAATTTTGTCTATGCTAGCTGAATGTCTTTTTTTTTTTTTCTTTTTAGATGGAGTCTCACTCTTCACCCAGGCTGGAGTGCAGAGGCAGGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTC... | AAAAACGTAAGTACCTTTGTGAGACATTTGCTGGACTTGGGTTTACTAGCCTGAAGTTTCAGCAGCTCCATTTTACGTACAAGGTAGCCAAAGGGAGAAAATGCCTATTGGGAAAGTCTGTTAGTCCACAGGGAGTGTCATGAAAACTTTTGATCCAGTGCACCTTCTGACACCCATGGCTTATGTGAATTTTGTCTATGCTAGCTGAATGTCTTTTTTTTTTTTTCTTTTTAGATGGAGTCTCACTCTTCACCCAGGCTGGAGTGCAGAGGCAGGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTC... | pathogenic | 124,511 |
For chromosome 7, position 107701131, gene SLC26A4 (solute carrier family 26 member 4): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Pendred_syndrome'] | AATTTATTTCCGTGATCTTTCTGTTATGTTGAGCCAAGTGCCATTAAGAGCTAAAATGATTTAGAGATTTTTTTGGCTTTGGGGAGGGAGCTCTAAGCTGAGTTAGGGAATTCTGACTTCTAGGCTCCATCTTGGTGAGACTTTGCCCAAGTCATTCAGCCTCTCAGGACCTCAGTTTTCTCATCTGAAGCAGCTAGACTAAAATTGCTGATTCCTGAAGACTAGAAAAGTCTATGATTCTGTGATTCCTGGGTTCTATTTTGGGTGTGGCCATTGTATGTCAGGGTGAGAACAGATGATATCATAGGCCTCAGTTCTGC... | AATTTATTTCCGTGATCTTTCTGTTATGTTGAGCCAAGTGCCATTAAGAGCTAAAATGATTTAGAGATTTTTTTGGCTTTGGGGAGGGAGCTCTAAGCTGAGTTAGGGAATTCTGACTTCTAGGCTCCATCTTGGTGAGACTTTGCCCAAGTCATTCAGCCTCTCAGGACCTCAGTTTTCTCATCTGAAGCAGCTAGACTAAAATTGCTGATTCCTGAAGACTAGAAAAGTCTATGATTCTGTGATTCCTGGGTTCTATTTTGGGTGTGGCCATTGTATGTCAGGGTGAGAACAGATGATATCATAGGCCTCAGTTCTGC... | pathogenic | 124,521 |
Mutation at chromosome 7, position 107702006, within SLC26A4 (solute carrier family 26 member 4): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4'] | GTTGAGTGCTGCTACCCAGCTCCTCTGAGCAACTGTGACTTGACTCCTTGCTAAGTAGCCAGAAATGTAATTAAATACTTGAGGCTTGAAATTATTTAATCCCAGACAATTTCTTTTAATGCCAGATTGAAGAACCTCAAGGAGTGAAGATTCTTAGATTTTCCAGTCCTATTTTCTATGGCAATGTCGATGGTTTTAAAAAATGTATCAAGTCCACAGTAAGTATTTTATCCCTAGAAATTTGTTTTCTAACCTCTTTTGAGACTTCATTCATTCTACAAGTATTTACTGGGGTCCAATCAGGAATAGGCCCTAGACCC... | GTTGAGTGCTGCTACCCAGCTCCTCTGAGCAACTGTGACTTGACTCCTTGCTAAGTAGCCAGAAATGTAATTAAATACTTGAGGCTTGAAATTATTTAATCCCAGACAATTTCTTTTAATGCCAGATTGAAGAACCTCAAGGAGTGAAGATTCTTAGATTTTCCAGTCCTATTTTCTATGGCAATGTCGATGGTTTTAAAAAATGTATCAAGTCCACAGTAAGTATTTTATCCCTAGAAATTTGTTTTCTAACCTCTTTTGAGACTTCATTCATTCTACAAGTATTTACTGGGGTCCAATCAGGAATAGGCCCTAGACCC... | pathogenic | 124,532 |
Is the genetic variant on chromosome 7, position 107702048, gene SLC26A4 (solute carrier family 26 member 4), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4'] | ACTCCTTGCTAAGTAGCCAGAAATGTAATTAAATACTTGAGGCTTGAAATTATTTAATCCCAGACAATTTCTTTTAATGCCAGATTGAAGAACCTCAAGGAGTGAAGATTCTTAGATTTTCCAGTCCTATTTTCTATGGCAATGTCGATGGTTTTAAAAAATGTATCAAGTCCACAGTAAGTATTTTATCCCTAGAAATTTGTTTTCTAACCTCTTTTGAGACTTCATTCATTCTACAAGTATTTACTGGGGTCCAATCAGGAATAGGCCCTAGACCCTCTTCCCTTTGTGTAGGGCAATGAGAATTAAAATATAACATC... | ACTCCTTGCTAAGTAGCCAGAAATGTAATTAAATACTTGAGGCTTGAAATTATTTAATCCCAGACAATTTCTTTTAATGCCAGATTGAAGAACCTCAAGGAGTGAAGATTCTTAGATTTTCCAGTCCTATTTTCTATGGCAATGTCGATGGTTTTAAAAAATGTATCAAGTCCACAGTAAGTATTTTATCCCTAGAAATTTGTTTTCTAACCTCTTTTGAGACTTCATTCATTCTACAAGTATTTACTGGGGTCCAATCAGGAATAGGCCCTAGACCCTCTTCCCTTTGTGTAGGGCAATGAGAATTAAAATATAACATC... | pathogenic | 124,537 |
A genetic variant at chromosome 7, position 107704335, affecting gene SLC26A4 (solute carrier family 26 member 4)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Pendred_syndrome'] | TCTGTCTATATCTCAGTTTCTTCATCTGTAATATGGAGGTAATGATGGTATCTACCTTCACAGGTTGTTACAAGGATTAAATAAGCTAATAGATATAAGGTGTTTAGAAGAGTGTCTGGTTCAGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACACCTGTAGTCCCAGCTCCTAGGAGGCTGTGGCAGGAGAATCGCT... | TCTGTCTATATCTCAGTTTCTTCATCTGTAATATGGAGGTAATGATGGTATCTACCTTCACAGGTTGTTACAAGGATTAAATAAGCTAATAGATATAAGGTGTTTAGAAGAGTGTCTGGTTCAGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCCGTCTCTACCAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACACCTGTAGTCCCAGCTCCTAGGAGGCTGTGGCAGGAGAATCGCT... | pathogenic | 124,542 |
Gene SLC26A4 variant at chromosome position 107710069 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Hearing_loss,_autosomal_recessive'] | CTGTTTTCTAGGCCAGTTACCTGGAAGAGAAAATCCTCTCACAATTTTCTATTAAGAGTAAACCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTT... | CTGTTTTCTAGGCCAGTTACCTGGAAGAGAAAATCCTCTCACAATTTTCTATTAAGAGTAAACCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTT... | pathogenic | 124,549 |
A mutation at chromosome position 107710088 on chromosome 7 in gene SLC26A4: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Pendred_syndrome'] | CCTGGAAGAGAAAATCCTCTCACAATTTTCTATTAAGAGTAAACCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTT... | CCTGGAAGAGAAAATCCTCTCACAATTTTCTATTAAGAGTAAACCAATCCTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTT... | pathogenic | 124,552 |
Variant on chromosome 7, at position 107710137, affecting SLC26A4: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Hearing_loss,_autosomal_recessive', 'Pendred_syndrome'] | CTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATTACTCTCTTTTC... | CTCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATTACTCTCTTTTC... | pathogenic | 124,561 |
Variant at chromosome position 107710138, chromosome 7, gene SLC26A4: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_4', 'Pendred_syndrome'] | TCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATTACTCTCTTTTCA... | TCTGAGAAAACTCTATTGTTCCAACACATAGGCCCACACTTTAGCCTTCCATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATTACTCTCTTTTCA... | pathogenic | 124,562 |
Located at chromosome 7 position 107710187, the variant affecting gene SLC26A4 (solute carrier family 26 member 4)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Pendred_syndrome', 'Rare_genetic_deafness'] | CATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATTACTCTCTTTTCAATTTTCTTTATCTCTTCATACTTGTAAATTTCTTCTCACATCTTTCCTA... | CATCAGTGTACTTTAATATTAATGCTCAATTTTTAGAAAAACTTATAAATAATTCCCTTCTACTTTTAGCCAACTCAATCACATAAAATTTTTCATGATATTTATCTTCTACAAACCTTCTACAACTTGCTTAAACCTTCATTTGGTCCTATACTTCCTTTTTTAAAATTGGCATTGTACCTTAGGACAAAGATTTACTTTTCTTTTCTCCTTATCATTTTGACCATATAAGGTTATCTCCTATACAAAAGAAAAAATTACTCTCTTTTCAATTTTCTTTATCTCTTCATACTTGTAAATTTCTTCTCACATCTTTCCTA... | pathogenic | 124,568 |
Does the variant impacting SLC26A3 (solute carrier family 26 member 3) on chromosome 7, position 107772089, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Congenital_secretory_diarrhea,_chloride_type'] | TCTTTCTTTCTCTTTTCTTTCTTTTTCTTTCTCTCTTTTTTCTTTCTTTCTTTCTTATTTCGTCTTTCTTCTTTCTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAAAAAAAAGGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTAGTGTGCAGTGGCACGATCACAGCTTACCGCAGCCTTGACCTCCCAGGCTCAAGCG... | TCTTTCTTTCTCTTTTCTTTCTTTTTCTTTCTCTCTTTTTTCTTTCTTTCTTTCTTATTTCGTCTTTCTTCTTTCTTCTTTCTCTTTCTTTCTTTCTCTCTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAAAAAAAAGGGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTAGTGTGCAGTGGCACGATCACAGCTTACCGCAGCCTTGACCTCCCAGGCTCAAGCG... | pathogenic | 124,581 |
Clinical significance of chromosome 7, position 107776454, gene SLC26A3 (solute carrier family 26 member 3): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Congenital_secretory_diarrhea,_chloride_type'] | GCCAGGCATGGTGGCACATGTGCTTGTAGTTTCAGCTACTTGGGAGGCTGAGGTGGGAGGGTCGCTTGAGTCTGGGAGGTCAAGGCTGCAATGAGCTGTGATCGCACCACTGCGCTCCAGCCTAGGCCACAGAGCAAGACACTGTCTCAAACAACAACAAGATTGTGGACAATTGTGTTTGGTACTTTTCCCAGGAGAATAAAAATTTTAGGGAGACCCTCAGAAGGATGTCATTTTAAAATATAACACTCATTGACACATGAAATCCCTTGTTTATCTGGCATTTCATTTAAAGGAATGGAACTACACCTTGAATCATC... | GCCAGGCATGGTGGCACATGTGCTTGTAGTTTCAGCTACTTGGGAGGCTGAGGTGGGAGGGTCGCTTGAGTCTGGGAGGTCAAGGCTGCAATGAGCTGTGATCGCACCACTGCGCTCCAGCCTAGGCCACAGAGCAAGACACTGTCTCAAACAACAACAAGATTGTGGACAATTGTGTTTGGTACTTTTCCCAGGAGAATAAAAATTTTAGGGAGACCCTCAGAAGGATGTCATTTTAAAATATAACACTCATTGACACATGAAATCCCTTGTTTATCTGGCATTTCATTTAAAGGAATGGAACTACACCTTGAATCATC... | pathogenic | 124,587 |
Chromosome 7, position 107782884, gene SLC26A3 (solute carrier family 26 member 3): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TAAAGTCTGTAATCTACTTAACATACTATACTAATGTATAGTACTGATATTGTACTACAGCTGTGTAAGATGTCACCATTGTGGTAGCTAGGCAAAGAAGTCAGAGGACTGTACAACGGGCCTCTCCATTTTGCAGGACTTTTAATTCTCTAAGTATAAAATATGTCAAGAGACACCTGTGCGAAGAGACTTTTTTTTTCCATTGGGCATTATTTCCCACCTAGTCAGTATTCTACGGAAAAACAATTTGAAGTAATTTACGATGACATACATATACAACAGATTACTTTTAAAGTAAAGATTACAGAGCATTAAGAAAT... | TAAAGTCTGTAATCTACTTAACATACTATACTAATGTATAGTACTGATATTGTACTACAGCTGTGTAAGATGTCACCATTGTGGTAGCTAGGCAAAGAAGTCAGAGGACTGTACAACGGGCCTCTCCATTTTGCAGGACTTTTAATTCTCTAAGTATAAAATATGTCAAGAGACACCTGTGCGAAGAGACTTTTTTTTTCCATTGGGCATTATTTCCCACCTAGTCAGTATTCTACGGAAAAACAATTTGAAGTAATTTACGATGACATACATATACAACAGATTACTTTTAAAGTAAAGATTACAGAGCATTAAGAAAT... | benign | 124,598 |
Does the variant impacting SLC26A3 (solute carrier family 26 member 3) on chromosome 7, position 107786844, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Congenital_secretory_diarrhea,_chloride_type'] | CTGTAAAACACAAAGTGCCTGTTAGCTATTATTATAGGATCCCTCTGGAATCTGAATATACTCCTTGTGTTTCCTTTACTGTTTCAATGAGCACTTTTCTTCAGCCAAATTATTTGTATTTAGTGTATGAGACTTTGCAAAATAACTACTAAGGTGGCATAGTCATGAACAGTAGGTTAGCAATAATTAATAATCACTACCTTCCAGTTATAGTCTATTTGCAATCAACAAAAACTTAAAATACCTACTCAATCATCACCCAGAAAAAAAAATGGAGCATAAAAAGCTCAAGTGCTTGCTACCTAATTTAGGTGTTAAAC... | CTGTAAAACACAAAGTGCCTGTTAGCTATTATTATAGGATCCCTCTGGAATCTGAATATACTCCTTGTGTTTCCTTTACTGTTTCAATGAGCACTTTTCTTCAGCCAAATTATTTGTATTTAGTGTATGAGACTTTGCAAAATAACTACTAAGGTGGCATAGTCATGAACAGTAGGTTAGCAATAATTAATAATCACTACCTTCCAGTTATAGTCTATTTGCAATCAACAAAAACTTAAAATACCTACTCAATCATCACCCAGAAAAAAAAATGGAGCATAAAAAGCTCAAGTGCTTGCTACCTAATTTAGGTGTTAAAC... | pathogenic | 124,604 |
Clinical significance of chromosome 7, position 107786870, gene SLC26A3 (solute carrier family 26 member 3): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Congenital_secretory_diarrhea,_chloride_type'] | TATTATTATAGGATCCCTCTGGAATCTGAATATACTCCTTGTGTTTCCTTTACTGTTTCAATGAGCACTTTTCTTCAGCCAAATTATTTGTATTTAGTGTATGAGACTTTGCAAAATAACTACTAAGGTGGCATAGTCATGAACAGTAGGTTAGCAATAATTAATAATCACTACCTTCCAGTTATAGTCTATTTGCAATCAACAAAAACTTAAAATACCTACTCAATCATCACCCAGAAAAAAAAATGGAGCATAAAAAGCTCAAGTGCTTGCTACCTAATTTAGGTGTTAAACTAGTTAACAATAGTAGTGTAATTTGA... | TATTATTATAGGATCCCTCTGGAATCTGAATATACTCCTTGTGTTTCCTTTACTGTTTCAATGAGCACTTTTCTTCAGCCAAATTATTTGTATTTAGTGTATGAGACTTTGCAAAATAACTACTAAGGTGGCATAGTCATGAACAGTAGGTTAGCAATAATTAATAATCACTACCTTCCAGTTATAGTCTATTTGCAATCAACAAAAACTTAAAATACCTACTCAATCATCACCCAGAAAAAAAAATGGAGCATAAAAAGCTCAAGTGCTTGCTACCTAATTTAGGTGTTAAACTAGTTAACAATAGTAGTGTAATTTGA... | pathogenic | 124,605 |
Chromosome 7, position 107789516, gene SLC26A3 (solute carrier family 26 member 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Congenital_secretory_diarrhea,_chloride_type'] | AATATTAGTCTTCTCTATTTGTGAGAATACAGAGTATAGTACCTACAATTATAAAAACAAAAACCACCAAAGCCCTATATTAATGCACAATTTGGATACAACGCATCTCCAAACAAATAAAAATAAACATGGAAGCAAAAAGACTGATAGAGACTGATAGTGATTTCCTGTATTGCCCCGGTTTAATTGTGAATGTGAAATTGTAGAGAGTAGCGATGGAGATATGAGAAGAGTAAGTTAGCATAGTGTAGGTGGCACACTAGTTTAAGAATGCTTCTGGCATTTTTGCTGGGAATCTCTTTGGCTAGTGTCAAATTTTG... | AATATTAGTCTTCTCTATTTGTGAGAATACAGAGTATAGTACCTACAATTATAAAAACAAAAACCACCAAAGCCCTATATTAATGCACAATTTGGATACAACGCATCTCCAAACAAATAAAAATAAACATGGAAGCAAAAAGACTGATAGAGACTGATAGTGATTTCCTGTATTGCCCCGGTTTAATTGTGAATGTGAAATTGTAGAGAGTAGCGATGGAGATATGAGAAGAGTAAGTTAGCATAGTGTAGGTGGCACACTAGTTTAAGAATGCTTCTGGCATTTTTGCTGGGAATCTCTTTGGCTAGTGTCAAATTTTG... | pathogenic | 124,610 |
A genetic variant at chromosome 7, position 107789644, affecting gene SLC26A3 (solute carrier family 26 member 3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Congenital_secretory_diarrhea,_chloride_type', 'SLC26A3-related_disorder'] | ATGGAAGCAAAAAGACTGATAGAGACTGATAGTGATTTCCTGTATTGCCCCGGTTTAATTGTGAATGTGAAATTGTAGAGAGTAGCGATGGAGATATGAGAAGAGTAAGTTAGCATAGTGTAGGTGGCACACTAGTTTAAGAATGCTTCTGGCATTTTTGCTGGGAATCTCTTTGGCTAGTGTCAAATTTTGTTGGATACTTTTCACATTTTTACCACTGGTCTTCTGCCCTTATTAGGTCTCTTTGGTCGTCATTTTTTATTTCACAGCCATCACTACTCTGTCCAGGGAATAACTTCTGATCTTTGATAGTTTTGCTT... | ATGGAAGCAAAAAGACTGATAGAGACTGATAGTGATTTCCTGTATTGCCCCGGTTTAATTGTGAATGTGAAATTGTAGAGAGTAGCGATGGAGATATGAGAAGAGTAAGTTAGCATAGTGTAGGTGGCACACTAGTTTAAGAATGCTTCTGGCATTTTTGCTGGGAATCTCTTTGGCTAGTGTCAAATTTTGTTGGATACTTTTCACATTTTTACCACTGGTCTTCTGCCCTTATTAGGTCTCTTTGGTCGTCATTTTTTATTTCACAGCCATCACTACTCTGTCCAGGGAATAACTTCTGATCTTTGATAGTTTTGCTT... | pathogenic | 124,611 |
Assess the variant on chromosome 7, position 107793742, impacting SLC26A3 (solute carrier family 26 member 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Congenital_secretory_diarrhea,_chloride_type', 'Hydrops_fetalis', 'Intestinal_obstruction', 'Polyhydramnios'] | CCTGGTCCTAATTCTCACAGGAGACCATGACTCTTCTCCTGGATTATGTGAAATTTGGAATTGATAGAAGGTATGGCTAATAAAATTCATAAGGAAAAAACAATGTGAGCATTAATCAGCTCAGTAACTGACTTACCCACGGATATGTGTCTGGAAGTGCCGAAGAAAAGGTAGATTATGGCTGGGAAAAAGGATGCATACAACCCATAGACTGGGGGAATGTCGACCAGCAGAGCAAATGCTAAACCTGTAAACACACAAGCAGCAGAGCCCTTACTCTGTGCAAGAGGAATCAAAGACATTCTCATTTGGTTCTTATG... | CCTGGTCCTAATTCTCACAGGAGACCATGACTCTTCTCCTGGATTATGTGAAATTTGGAATTGATAGAAGGTATGGCTAATAAAATTCATAAGGAAAAAACAATGTGAGCATTAATCAGCTCAGTAACTGACTTACCCACGGATATGTGTCTGGAAGTGCCGAAGAAAAGGTAGATTATGGCTGGGAAAAAGGATGCATACAACCCATAGACTGGGGGAATGTCGACCAGCAGAGCAAATGCTAAACCTGTAAACACACAAGCAGCAGAGCCCTTACTCTGTGCAAGAGGAATCAAAGACATTCTCATTTGGTTCTTATG... | pathogenic | 124,625 |
Determine if the mutation at chromosome 7, position 107793835 in gene SLC26A3 (solute carrier family 26 member 3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Congenital_secretory_diarrhea,_chloride_type'] | GAAAAAACAATGTGAGCATTAATCAGCTCAGTAACTGACTTACCCACGGATATGTGTCTGGAAGTGCCGAAGAAAAGGTAGATTATGGCTGGGAAAAAGGATGCATACAACCCATAGACTGGGGGAATGTCGACCAGCAGAGCAAATGCTAAACCTGTAAACACACAAGCAGCAGAGCCCTTACTCTGTGCAAGAGGAATCAAAGACATTCTCATTTGGTTCTTATGGTATTTAGAATTGGATCCTAAAAATAAGTTACCTCATTAATTCAAAATGTATTAAAGATGTAAATGTAAGAACTAAAACTATAAAACTTTTAG... | GAAAAAACAATGTGAGCATTAATCAGCTCAGTAACTGACTTACCCACGGATATGTGTCTGGAAGTGCCGAAGAAAAGGTAGATTATGGCTGGGAAAAAGGATGCATACAACCCATAGACTGGGGGAATGTCGACCAGCAGAGCAAATGCTAAACCTGTAAACACACAAGCAGCAGAGCCCTTACTCTGTGCAAGAGGAATCAAAGACATTCTCATTTGGTTCTTATGGTATTTAGAATTGGATCCTAAAAATAAGTTACCTCATTAATTCAAAATGTATTAAAGATGTAAATGTAAGAACTAAAACTATAAAACTTTTAG... | pathogenic | 124,628 |
Is the variant located on chromosome 7 at position 107794496, gene SLC26A3 (solute carrier family 26 member 3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Congenital_secretory_diarrhea,_chloride_type'] | CATTAGATTCTCATAAGGAGCATGCAACCTAGATCCCTTGCGTGCACAGTTCACGATAGGGTTTGCACTCCTATGAGAATATAATGTTGTCGCTGATCTAACAGGAGGTGGAGCTCAGGAGGTAAAGAGAGCAATAAGGAGCGGCTGTAAATACAGGTGAGGCTTCATTTGCTCACCTGCCACTCACCTCCTGCTGTGTGGCCCAGTTCTTAACAGGCCACGGACCTGTACTGGTCTGTGGCCCAGGGACTGGGGACCCCTGGCATAAGCACCCAATGAAAAATACAGATAGACTGGACTTAATCACAATTTAAAAACGT... | CATTAGATTCTCATAAGGAGCATGCAACCTAGATCCCTTGCGTGCACAGTTCACGATAGGGTTTGCACTCCTATGAGAATATAATGTTGTCGCTGATCTAACAGGAGGTGGAGCTCAGGAGGTAAAGAGAGCAATAAGGAGCGGCTGTAAATACAGGTGAGGCTTCATTTGCTCACCTGCCACTCACCTCCTGCTGTGTGGCCCAGTTCTTAACAGGCCACGGACCTGTACTGGTCTGTGGCCCAGGGACTGGGGACCCCTGGCATAAGCACCCAATGAAAAATACAGATAGACTGGACTTAATCACAATTTAAAAACGT... | pathogenic | 124,630 |
Regarding the variant found on chromosome 7 at position 107893239 in gene DLD (dihydrolipoamide dehydrogenase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Pyruvate_dehydrogenase_E3_deficiency'] | AGCGGCGGAGGCGCCCAGCGGAGGTGAAAGTATTGGCGGAAAGGAAAATACAGCGGAAAAATGCAGAGCTGGAGTCGTGTGTACTGCTCCTTGGCCAAGGTGAGGGCCGAGTAGGTGAGGTCGTGTTGAGCCAGAGGCACGGAAGGTCCCGCTCAGTGGGTCCGGTACGCGGCTTAACCGTGTTGGGCTGGCGGAGGCGGGCGCCTGGGCCGCACCACCCCTGGCCCCGCCTCTGCACTGGCTCAGCCCGGCCCTGGGCTCCGAGGTGGCCGCTCATCCTGCAGCAGGCGAGGGACGGGGCTGGGCCCAGGCTGTGGCGA... | AGCGGCGGAGGCGCCCAGCGGAGGTGAAAGTATTGGCGGAAAGGAAAATACAGCGGAAAAATGCAGAGCTGGAGTCGTGTGTACTGCTCCTTGGCCAAGGTGAGGGCCGAGTAGGTGAGGTCGTGTTGAGCCAGAGGCACGGAAGGTCCCGCTCAGTGGGTCCGGTACGCGGCTTAACCGTGTTGGGCTGGCGGAGGCGGGCGCCTGGGCCGCACCACCCCTGGCCCCGCCTCTGCACTGGCTCAGCCCGGCCCTGGGCTCCGAGGTGGCCGCTCATCCTGCAGCAGGCGAGGGACGGGGCTGGGCCCAGGCTGTGGCGA... | pathogenic | 124,639 |
Does the genetic variant at chromosome 7, position 107893263, impacting gene DLD (dihydrolipoamide dehydrogenase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Pyruvate_dehydrogenase_E3_deficiency'] | TGAAAGTATTGGCGGAAAGGAAAATACAGCGGAAAAATGCAGAGCTGGAGTCGTGTGTACTGCTCCTTGGCCAAGGTGAGGGCCGAGTAGGTGAGGTCGTGTTGAGCCAGAGGCACGGAAGGTCCCGCTCAGTGGGTCCGGTACGCGGCTTAACCGTGTTGGGCTGGCGGAGGCGGGCGCCTGGGCCGCACCACCCCTGGCCCCGCCTCTGCACTGGCTCAGCCCGGCCCTGGGCTCCGAGGTGGCCGCTCATCCTGCAGCAGGCGAGGGACGGGGCTGGGCCCAGGCTGTGGCGAGTCCTTTCGGGTTGTGTGACGGCC... | TGAAAGTATTGGCGGAAAGGAAAATACAGCGGAAAAATGCAGAGCTGGAGTCGTGTGTACTGCTCCTTGGCCAAGGTGAGGGCCGAGTAGGTGAGGTCGTGTTGAGCCAGAGGCACGGAAGGTCCCGCTCAGTGGGTCCGGTACGCGGCTTAACCGTGTTGGGCTGGCGGAGGCGGGCGCCTGGGCCGCACCACCCCTGGCCCCGCCTCTGCACTGGCTCAGCCCGGCCCTGGGCTCCGAGGTGGCCGCTCATCCTGCAGCAGGCGAGGGACGGGGCTGGGCCCAGGCTGTGGCGAGTCCTTTCGGGTTGTGTGACGGCC... | pathogenic | 124,641 |
Variant in gene DLD (dihydrolipoamide dehydrogenase), located at chromosome 7 position 107893264: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Pyruvate_dehydrogenase_E3_deficiency'] | GAAAGTATTGGCGGAAAGGAAAATACAGCGGAAAAATGCAGAGCTGGAGTCGTGTGTACTGCTCCTTGGCCAAGGTGAGGGCCGAGTAGGTGAGGTCGTGTTGAGCCAGAGGCACGGAAGGTCCCGCTCAGTGGGTCCGGTACGCGGCTTAACCGTGTTGGGCTGGCGGAGGCGGGCGCCTGGGCCGCACCACCCCTGGCCCCGCCTCTGCACTGGCTCAGCCCGGCCCTGGGCTCCGAGGTGGCCGCTCATCCTGCAGCAGGCGAGGGACGGGGCTGGGCCCAGGCTGTGGCGAGTCCTTTCGGGTTGTGTGACGGCCG... | GAAAGTATTGGCGGAAAGGAAAATACAGCGGAAAAATGCAGAGCTGGAGTCGTGTGTACTGCTCCTTGGCCAAGGTGAGGGCCGAGTAGGTGAGGTCGTGTTGAGCCAGAGGCACGGAAGGTCCCGCTCAGTGGGTCCGGTACGCGGCTTAACCGTGTTGGGCTGGCGGAGGCGGGCGCCTGGGCCGCACCACCCCTGGCCCCGCCTCTGCACTGGCTCAGCCCGGCCCTGGGCTCCGAGGTGGCCGCTCATCCTGCAGCAGGCGAGGGACGGGGCTGGGCCCAGGCTGTGGCGAGTCCTTTCGGGTTGTGTGACGGCCG... | pathogenic | 124,642 |
Evaluate this variant at chromosome 7, position 107903491, gene DLD (dihydrolipoamide dehydrogenase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Pyruvate_dehydrogenase_E3_deficiency'] | TAGAATTTAGGAAGGTCAGTGAATACAATGTGAGTGTTACAGAACTCAGTTGTGTTTCTGTATGTTGTAATGAATAGAAAATAATAGAAAATGAAATTTGAGTATTTATGCCATTTTTCAGTAGCATCAAAGAGCATCAAGTAGTAGTAATAAAATAGTGCAGAAACTATGTAGAAAATGCTGATTTGTACTGTAAGAGGTTTAAGTATCGGGTTATTTGTTTGCTCTTCCAAAGAGCTCTTTTTGGTAAATATTAAGCAATTTACTATTTTATATCAATTTGCTTTTATCGTAGTTGATGCTGATGTAACAGTTATAGG... | TAGAATTTAGGAAGGTCAGTGAATACAATGTGAGTGTTACAGAACTCAGTTGTGTTTCTGTATGTTGTAATGAATAGAAAATAATAGAAAATGAAATTTGAGTATTTATGCCATTTTTCAGTAGCATCAAAGAGCATCAAGTAGTAGTAATAAAATAGTGCAGAAACTATGTAGAAAATGCTGATTTGTACTGTAAGAGGTTTAAGTATCGGGTTATTTGTTTGCTCTTCCAAAGAGCTCTTTTTGGTAAATATTAAGCAATTTACTATTTTATATCAATTTGCTTTTATCGTAGTTGATGCTGATGTAACAGTTATAGG... | pathogenic | 124,654 |
Regarding the variant found on chromosome 7 at position 107906310 in gene DLD (dihydrolipoamide dehydrogenase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Pyruvate_dehydrogenase_E3_deficiency'] | AGAAAGAAGAGCTAGGGGTAGTCAGGAGACCTGCATTGTAGGCAAGGCTTTTACATCCTAGCTCTGTGACCTTGGGTAAATCAGAAATCTCTCAGAGTCTCTTTTTCCTTATCTCTAATATATGTGTTGGTTATATGAGGTACTTTCTAAGATACCCTTCTTACCTCTAAAGTTTAATTGAGTTGAGCATTTTTATCTAATACTGTTGCTTCAGAGTTCTCTTCTGAGTTGAATGAGTGATTAAAACCTAGGTGATTAAACTTTTTAATGTTAAGCTTCTGTATTTGAAATTTTTAAACGTGTATTTTTTATTTGTTTTG... | AGAAAGAAGAGCTAGGGGTAGTCAGGAGACCTGCATTGTAGGCAAGGCTTTTACATCCTAGCTCTGTGACCTTGGGTAAATCAGAAATCTCTCAGAGTCTCTTTTTCCTTATCTCTAATATATGTGTTGGTTATATGAGGTACTTTCTAAGATACCCTTCTTACCTCTAAAGTTTAATTGAGTTGAGCATTTTTATCTAATACTGTTGCTTCAGAGTTCTCTTCTGAGTTGAATGAGTGATTAAAACCTAGGTGATTAAACTTTTTAATGTTAAGCTTCTGTATTTGAAATTTTTAAACGTGTATTTTTTATTTGTTTTG... | pathogenic | 124,667 |
Variant in DLD (dihydrolipoamide dehydrogenase), chromosome 7, position 107915623—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Pyruvate_dehydrogenase_E3_deficiency'] | TGATTTTGTATCCTGCAACTTTACTGAATTAGTTTGTAAGTTTAATAGTTTTTTGGTGGAGTCTTTAGGTTTTTCTAAATATAAGATCATGTAGTCTGCACAAAAGATTAATTTGACTTCTTCCTTTTCAATTCGAATGCCCTTTGTTTCTTTCTCCTCTACAATTGCTGAGGCCAGGACTTCCAGTACTATGTTGAATAAAAGTGGTGAAAAATGGGCATTCTTGTATTGTTCCAGATATTAGAGGAAAGGCTTTCAATTTTTTCCCATTCAGTATGATGTTGGCCATGAGTTTGTCTTATTATTTTGAGGTGTGTCCC... | TGATTTTGTATCCTGCAACTTTACTGAATTAGTTTGTAAGTTTAATAGTTTTTTGGTGGAGTCTTTAGGTTTTTCTAAATATAAGATCATGTAGTCTGCACAAAAGATTAATTTGACTTCTTCCTTTTCAATTCGAATGCCCTTTGTTTCTTTCTCCTCTACAATTGCTGAGGCCAGGACTTCCAGTACTATGTTGAATAAAAGTGGTGAAAAATGGGCATTCTTGTATTGTTCCAGATATTAGAGGAAAGGCTTTCAATTTTTTCCCATTCAGTATGATGTTGGCCATGAGTTTGTCTTATTATTTTGAGGTGTGTCCC... | pathogenic | 124,677 |
Located at chromosome 7 position 107915640, the variant affecting gene DLD (dihydrolipoamide dehydrogenase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Pyruvate_dehydrogenase_E3_deficiency'] | ACTTTACTGAATTAGTTTGTAAGTTTAATAGTTTTTTGGTGGAGTCTTTAGGTTTTTCTAAATATAAGATCATGTAGTCTGCACAAAAGATTAATTTGACTTCTTCCTTTTCAATTCGAATGCCCTTTGTTTCTTTCTCCTCTACAATTGCTGAGGCCAGGACTTCCAGTACTATGTTGAATAAAAGTGGTGAAAAATGGGCATTCTTGTATTGTTCCAGATATTAGAGGAAAGGCTTTCAATTTTTTCCCATTCAGTATGATGTTGGCCATGAGTTTGTCTTATTATTTTGAGGTGTGTCCCTCCTATATCCAGTTTTT... | ACTTTACTGAATTAGTTTGTAAGTTTAATAGTTTTTTGGTGGAGTCTTTAGGTTTTTCTAAATATAAGATCATGTAGTCTGCACAAAAGATTAATTTGACTTCTTCCTTTTCAATTCGAATGCCCTTTGTTTCTTTCTCCTCTACAATTGCTGAGGCCAGGACTTCCAGTACTATGTTGAATAAAAGTGGTGAAAAATGGGCATTCTTGTATTGTTCCAGATATTAGAGGAAAGGCTTTCAATTTTTTCCCATTCAGTATGATGTTGGCCATGAGTTTGTCTTATTATTTTGAGGTGTGTCCCTCCTATATCCAGTTTTT... | pathogenic | 124,678 |
Clinical significance of chromosome 7, position 107918024, gene DLD (dihydrolipoamide dehydrogenase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Pyruvate_dehydrogenase_E3_deficiency'] | TTTTAGGCAGATACATGGGGAAATCAATAATAAAAGATTGCTTACTATATGTCTGGTACTCTACTGATTAAATACTTTAATGGCATTTAACTTATTGAATTAGTTTTTAAATAAATATTTAAATTAAATAGTTAATAGTATTTAAATAGTTTAATGACTTTTACTCAAAGATAAGAAGCTGAATTCATTGACTAATTAATGACTAACTTGTCACACAGCTAGTGGGTGGCAGTCAGTAGTTGAATTTGGATTTCTGTGACTCAAAGACCTGTATTCTTAACTGCTGTTTTATTATACTGTGGTTTTTGTGAGATTTTAAT... | TTTTAGGCAGATACATGGGGAAATCAATAATAAAAGATTGCTTACTATATGTCTGGTACTCTACTGATTAAATACTTTAATGGCATTTAACTTATTGAATTAGTTTTTAAATAAATATTTAAATTAAATAGTTAATAGTATTTAAATAGTTTAATGACTTTTACTCAAAGATAAGAAGCTGAATTCATTGACTAATTAATGACTAACTTGTCACACAGCTAGTGGGTGGCAGTCAGTAGTTGAATTTGGATTTCTGTGACTCAAAGACCTGTATTCTTAACTGCTGTTTTATTATACTGTGGTTTTTGTGAGATTTTAAT... | pathogenic | 124,689 |
A genetic variant on chromosome 7, position 107919046, affects the gene DLD (dihydrolipoamide dehydrogenase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Pyruvate_dehydrogenase_E3_deficiency'] | TTTAAAATTGATTTCAAACAGTATTTTGAAAAGTAAGATTTTTATGCTTAAAATATGTATTGGCTTTGGGGAAGAATAGTAAACTTACAAAATGTAAAATAAAAAATAACTGAATTTTACTCAAAGATAAGCTGAATTCATAGATTTTTGAAGAGCTGCATTTGATGTATTTTTTGGTGACTTGTTTACTGGAAACTTTTGTTACCATAATGTAACTGAAGGTAAGTAGCTGTGATTTCAGAAATTCATTGTGTTTCTTTTGATTTCTGTGGTAGTATCTATGCCATTGGTGATGTAGTTGCTGGTCCAATGCTGGCTCA... | TTTAAAATTGATTTCAAACAGTATTTTGAAAAGTAAGATTTTTATGCTTAAAATATGTATTGGCTTTGGGGAAGAATAGTAAACTTACAAAATGTAAAATAAAAAATAACTGAATTTTACTCAAAGATAAGCTGAATTCATAGATTTTTGAAGAGCTGCATTTGATGTATTTTTTGGTGACTTGTTTACTGGAAACTTTTGTTACCATAATGTAACTGAAGGTAAGTAGCTGTGATTTCAGAAATTCATTGTGTTTCTTTTGATTTCTGTGGTAGTATCTATGCCATTGGTGATGTAGTTGCTGGTCCAATGCTGGCTCA... | pathogenic | 124,692 |
Does the genetic variant at chromosome 7, position 107919078, impacting gene DLD (dihydrolipoamide dehydrogenase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Pyruvate_dehydrogenase_E3_deficiency'] | GTAAGATTTTTATGCTTAAAATATGTATTGGCTTTGGGGAAGAATAGTAAACTTACAAAATGTAAAATAAAAAATAACTGAATTTTACTCAAAGATAAGCTGAATTCATAGATTTTTGAAGAGCTGCATTTGATGTATTTTTTGGTGACTTGTTTACTGGAAACTTTTGTTACCATAATGTAACTGAAGGTAAGTAGCTGTGATTTCAGAAATTCATTGTGTTTCTTTTGATTTCTGTGGTAGTATCTATGCCATTGGTGATGTAGTTGCTGGTCCAATGCTGGCTCACAAAGCAGAGGATGAAGGCATTATCTGTGTTG... | GTAAGATTTTTATGCTTAAAATATGTATTGGCTTTGGGGAAGAATAGTAAACTTACAAAATGTAAAATAAAAAATAACTGAATTTTACTCAAAGATAAGCTGAATTCATAGATTTTTGAAGAGCTGCATTTGATGTATTTTTTGGTGACTTGTTTACTGGAAACTTTTGTTACCATAATGTAACTGAAGGTAAGTAGCTGTGATTTCAGAAATTCATTGTGTTTCTTTTGATTTCTGTGGTAGTATCTATGCCATTGGTGATGTAGTTGCTGGTCCAATGCTGGCTCACAAAGCAGAGGATGAAGGCATTATCTGTGTTG... | pathogenic | 124,695 |
Classify the chromosome 7 variant at position 107924091 affecting gene LAMB1 (laminin subunit beta 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CCACATTTTCTTTATCCATTCTGTCATAGATGGGCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAACAGTGCCTCAATAAACATACATGTGCATGTGTCTTTATAGTAGAATGATTTATAATCCTTCGGGTATATACCCAGTAATAGCATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGGTTGAACTAATTTACACTCCCACTAACAGTGTAAAAGTGTTCCTATTTCTCCACAGCCTCTCCAGCATCTGTTGTTTGCTGACTTTTTAATGATTGTCATTC... | CCACATTTTCTTTATCCATTCTGTCATAGATGGGCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAACAGTGCCTCAATAAACATACATGTGCATGTGTCTTTATAGTAGAATGATTTATAATCCTTCGGGTATATACCCAGTAATAGCATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGGTTGAACTAATTTACACTCCCACTAACAGTGTAAAAGTGTTCCTATTTCTCCACAGCCTCTCCAGCATCTGTTGTTTGCTGACTTTTTAATGATTGTCATTC... | benign | 124,713 |
Regarding the variant found on chromosome 7 at position 107924095 in gene LAMB1 (laminin subunit beta 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | ATTTTCTTTATCCATTCTGTCATAGATGGGCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAACAGTGCCTCAATAAACATACATGTGCATGTGTCTTTATAGTAGAATGATTTATAATCCTTCGGGTATATACCCAGTAATAGCATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGGTTGAACTAATTTACACTCCCACTAACAGTGTAAAAGTGTTCCTATTTCTCCACAGCCTCTCCAGCATCTGTTGTTTGCTGACTTTTTAATGATTGTCATTCTAAC... | ATTTTCTTTATCCATTCTGTCATAGATGGGCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAACAGTGCCTCAATAAACATACATGTGCATGTGTCTTTATAGTAGAATGATTTATAATCCTTCGGGTATATACCCAGTAATAGCATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGGTTGAACTAATTTACACTCCCACTAACAGTGTAAAAGTGTTCCTATTTCTCCACAGCCTCTCCAGCATCTGTTGTTTGCTGACTTTTTAATGATTGTCATTCTAAC... | benign | 124,715 |
Does the chromosome 7 mutation at position 107924097 within gene LAMB1 (laminin subunit beta 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TTTCTTTATCCATTCTGTCATAGATGGGCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAACAGTGCCTCAATAAACATACATGTGCATGTGTCTTTATAGTAGAATGATTTATAATCCTTCGGGTATATACCCAGTAATAGCATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGGTTGAACTAATTTACACTCCCACTAACAGTGTAAAAGTGTTCCTATTTCTCCACAGCCTCTCCAGCATCTGTTGTTTGCTGACTTTTTAATGATTGTCATTCTAACTG... | TTTCTTTATCCATTCTGTCATAGATGGGCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAACAGTGCCTCAATAAACATACATGTGCATGTGTCTTTATAGTAGAATGATTTATAATCCTTCGGGTATATACCCAGTAATAGCATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATTGCCACACTGTCTTCCACAATGGTTGAACTAATTTACACTCCCACTAACAGTGTAAAAGTGTTCCTATTTCTCCACAGCCTCTCCAGCATCTGTTGTTTGCTGACTTTTTAATGATTGTCATTCTAACTG... | benign | 124,716 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 7, position 107998337, gene LAMB1 (laminin subunit beta 1). What disease(s) is it linked to if pathogenic? | benign | ACAGGCTTTTTTTTATATGGGAAGAAAAATCCACAGAGAAAAGAAACAAGGTCATTCTTCTATAGTGTATTTGATTTCTGTCAGACCTAGGAAGAGATCATCACGATGGGTAAAAATAGTCGTACATTCCAAGCTCGTTTCTGTGCCTGGACACTGATAATTTAGCCCCGCCACGTATAAGCACAACTTGTGCACAACACACAGAAAATAGATAAAATCACATTCATAAACTCTTAAACTGTGATCAGACAACAGAGAGATGATAGGGTATAGTAACAATCAGTCTGACTTTCTAAAGACTAAGTTCCATCAGTCTAATC... | ACAGGCTTTTTTTTATATGGGAAGAAAAATCCACAGAGAAAAGAAACAAGGTCATTCTTCTATAGTGTATTTGATTTCTGTCAGACCTAGGAAGAGATCATCACGATGGGTAAAAATAGTCGTACATTCCAAGCTCGTTTCTGTGCCTGGACACTGATAATTTAGCCCCGCCACGTATAAGCACAACTTGTGCACAACACACAGAAAATAGATAAAATCACATTCATAAACTCTTAAACTGTGATCAGACAACAGAGAGATGATAGGGTATAGTAACAATCAGTCTGACTTTCTAAAGACTAAGTTCCATCAGTCTAATC... | benign | 124,826 |
A genetic alteration at chromosome 7, position 108472473, in gene PNPLA8 (patatin like domain 8, phospholipase A2 )—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Mitochondrial_myopathy-lactic_acidosis-deafness_syndrome', 'likely other unspecified diseases'] | ACTTGTGTAATGTATTATTTAAGAAAGAAATAAGCCAAGCACAAATAAGGGACATACTTAACTTCAGCTGTAAAACAGATGAACTACATCAGTTTAGGACTAGAGTGACCTTATGATGAGGTGCAAATATGTAAATATGCATAAATATTACTTTATTGTGCTTGAAATTTGCTTTATTACGAAGAATTCCCAGAAATATTCTGATTTCCAATTATTTGTTTTTTTCTTGCATTTACAAGTTGTTCTTAGTTGCATGTTATTATGTATTATTTGTGGTCTGAAAGAACTATATTATCTTTAGAAATCATTGGTAGTTTCCT... | ACTTGTGTAATGTATTATTTAAGAAAGAAATAAGCCAAGCACAAATAAGGGACATACTTAACTTCAGCTGTAAAACAGATGAACTACATCAGTTTAGGACTAGAGTGACCTTATGATGAGGTGCAAATATGTAAATATGCATAAATATTACTTTATTGTGCTTGAAATTTGCTTTATTACGAAGAATTCCCAGAAATATTCTGATTTCCAATTATTTGTTTTTTTCTTGCATTTACAAGTTGTTCTTAGTTGCATGTTATTATGTATTATTTGTGGTCTGAAAGAACTATATTATCTTTAGAAATCATTGGTAGTTTCCT... | pathogenic | 124,856 |
Is the chromosome 7, position 108491481 variant in PNPLA8 (patatin like domain 8, phospholipase A2 ) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TCAATGGCCTTCACATTGACATCTCAAATCTCACTTCCTTAAATTAGCTGGCCCTCATGTCTCTTTAAAAATATGCTTTCAAAGAACTGCTTTTATGCTCCATAGCACTTATGTATTTCAGGGAAACTACTACATGTCATCTGTGTGATTATTTCATTAATACCTATGTTGCCCTACAGAGCTGTGAACCCCATGTCTGCATTTGCCCACAAATGAATCCAAAGTGCCTAGCAGTGGGTGTATAATTAATACTTGCAGAATGAATCAAAGTATGAGTATGCCATAGTTAAGAGCAACAGAAAGAGCTGCACTTGTTTGAT... | TCAATGGCCTTCACATTGACATCTCAAATCTCACTTCCTTAAATTAGCTGGCCCTCATGTCTCTTTAAAAATATGCTTTCAAAGAACTGCTTTTATGCTCCATAGCACTTATGTATTTCAGGGAAACTACTACATGTCATCTGTGTGATTATTTCATTAATACCTATGTTGCCCTACAGAGCTGTGAACCCCATGTCTGCATTTGCCCACAAATGAATCCAAAGTGCCTAGCAGTGGGTGTATAATTAATACTTGCAGAATGAATCAAAGTATGAGTATGCCATAGTTAAGAGCAACAGAAAGAGCTGCACTTGTTTGAT... | benign | 124,860 |
Considering the variant on chromosome 7, location 108514621, involving gene PNPLA8 (patatin like domain 8, phospholipase A2 ), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Mitochondrial_myopathy-lactic_acidosis-deafness_syndrome'] | AAAGTAAAATTGATACAGATGTTTTATAAAAATTCTATCATTTTTAAAAAGCTCAACTCTTGATAATAACAAAAAGTTTAGCTGGAAAAGTTCACACTAGAGTGTACATGCTGACACGTTATATGCAATTTGTCCAGTTCACTGTTTTTCAGATGATTATTTAAGGGAAGGGTGACAACTTTTTTCAGACTACCTAGATTTTTATTCATAATTGATCTGAATATATATTCCTATATTACATTTTTTCATAGTATTGAAAGGTCCTTAGATTTGGGATTAGTTATGCAAGATAAAAGAGTCCTCAGAGTTTCAATTAGCAA... | AAAGTAAAATTGATACAGATGTTTTATAAAAATTCTATCATTTTTAAAAAGCTCAACTCTTGATAATAACAAAAAGTTTAGCTGGAAAAGTTCACACTAGAGTGTACATGCTGACACGTTATATGCAATTTGTCCAGTTCACTGTTTTTCAGATGATTATTTAAGGGAAGGGTGACAACTTTTTTCAGACTACCTAGATTTTTATTCATAATTGATCTGAATATATATTCCTATATTACATTTTTTCATAGTATTGAAAGGTCCTTAGATTTGGGATTAGTTATGCAAGATAAAAGAGTCCTCAGAGTTTCAATTAGCAA... | pathogenic | 124,869 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 114629882, gene FOXP2 (forkhead box P2): what disease(s) if pathogenic? | benign | GAAAAGGTTTAAAGAAGAAGCTAGAATACTAGTTATATGAGTTCTTCTTTCAGAAGACCTATGTATGTCATTATTTTTCTGGATATACACACAGACACACACACACATATATATATATATCTCCTATATGAATTATCACATGTTGTCATATGCTAAATTTTATTACTATATTTATTTTCTAGTACTTTATCATGTGTATATAAAATTTTGAAGATGATGATTATATTTTTAAGTAAGTATACTGTATACATGCTTTTTACTAGTTTAGATAACATTTATATGCATATTTCCAATTTTTTAATCTTTAATATTTATTTTAA... | GAAAAGGTTTAAAGAAGAAGCTAGAATACTAGTTATATGAGTTCTTCTTTCAGAAGACCTATGTATGTCATTATTTTTCTGGATATACACACAGACACACACACACATATATATATATATCTCCTATATGAATTATCACATGTTGTCATATGCTAAATTTTATTACTATATTTATTTTCTAGTACTTTATCATGTGTATATAAAATTTTGAAGATGATGATTATATTTTTAAGTAAGTATACTGTATACATGCTTTTTACTAGTTTAGATAACATTTATATGCATATTTCCAATTTTTTAATCTTTAATATTTATTTTAA... | benign | 124,914 |
Determine if the mutation at chromosome 7, position 114629915 in gene FOXP2 (forkhead box P2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TATATGAGTTCTTCTTTCAGAAGACCTATGTATGTCATTATTTTTCTGGATATACACACAGACACACACACACATATATATATATATCTCCTATATGAATTATCACATGTTGTCATATGCTAAATTTTATTACTATATTTATTTTCTAGTACTTTATCATGTGTATATAAAATTTTGAAGATGATGATTATATTTTTAAGTAAGTATACTGTATACATGCTTTTTACTAGTTTAGATAACATTTATATGCATATTTCCAATTTTTTAATCTTTAATATTTATTTTAATTACACTTAAGACATTTCAAAAACCTTTGTATT... | TATATGAGTTCTTCTTTCAGAAGACCTATGTATGTCATTATTTTTCTGGATATACACACAGACACACACACACATATATATATATATCTCCTATATGAATTATCACATGTTGTCATATGCTAAATTTTATTACTATATTTATTTTCTAGTACTTTATCATGTGTATATAAAATTTTGAAGATGATGATTATATTTTTAAGTAAGTATACTGTATACATGCTTTTTACTAGTTTAGATAACATTTATATGCATATTTCCAATTTTTTAATCTTTAATATTTATTTTAATTACACTTAAGACATTTCAAAAACCTTTGTATT... | benign | 124,917 |
Does the genetic variant at chromosome 7, position 114629939, impacting gene FOXP2 (forkhead box P2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CCTATGTATGTCATTATTTTTCTGGATATACACACAGACACACACACACATATATATATATATCTCCTATATGAATTATCACATGTTGTCATATGCTAAATTTTATTACTATATTTATTTTCTAGTACTTTATCATGTGTATATAAAATTTTGAAGATGATGATTATATTTTTAAGTAAGTATACTGTATACATGCTTTTTACTAGTTTAGATAACATTTATATGCATATTTCCAATTTTTTAATCTTTAATATTTATTTTAATTACACTTAAGACATTTCAAAAACCTTTGTATTTATAGCACAGTGACATTGATGAGA... | CCTATGTATGTCATTATTTTTCTGGATATACACACAGACACACACACACATATATATATATATCTCCTATATGAATTATCACATGTTGTCATATGCTAAATTTTATTACTATATTTATTTTCTAGTACTTTATCATGTGTATATAAAATTTTGAAGATGATGATTATATTTTTAAGTAAGTATACTGTATACATGCTTTTTACTAGTTTAGATAACATTTATATGCATATTTCCAATTTTTTAATCTTTAATATTTATTTTAATTACACTTAAGACATTTCAAAAACCTTTGTATTTATAGCACAGTGACATTGATGAGA... | benign | 124,920 |
Gene FOXP2 (forkhead box P2) variant at chromosome position 114631524 on chromosome 7: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ACTGGTAGAGTATAGCCTAGTTTTTATGTGTCAGTAGGACTTCAGATGTAATAATTTAAAGTATTAATTTGGCTCTGACCCTTTAGAATACAGACTTTCTATACCCTTTTGTTTAGGATTTTTTGGATTCTGGATTGGAAAATTTCAGAGCTGCCTTGGAAAAAAATGTATGTAGAGCTGTCTCTTTGAATCCAATGTATATTTTTTGTTGTTTTTATGGGATGAATCTTAATGGATACTCTGCCATATGCCAGTCTAGAAGAGTTTAGGAGATTTATAATACGTGAAACTTTTGCCTTTATTTATTAAAGTCAAAATGG... | ACTGGTAGAGTATAGCCTAGTTTTTATGTGTCAGTAGGACTTCAGATGTAATAATTTAAAGTATTAATTTGGCTCTGACCCTTTAGAATACAGACTTTCTATACCCTTTTGTTTAGGATTTTTTGGATTCTGGATTGGAAAATTTCAGAGCTGCCTTGGAAAAAAATGTATGTAGAGCTGTCTCTTTGAATCCAATGTATATTTTTTGTTGTTTTTATGGGATGAATCTTAATGGATACTCTGCCATATGCCAGTCTAGAAGAGTTTAGGAGATTTATAATACGTGAAACTTTTGCCTTTATTTATTAAAGTCAAAATGG... | benign | 124,925 |
Does the genetic variant at chromosome 7, position 114658168, impacting gene FOXP2 (forkhead box P2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic | GGTTTGCATTGAAAAAGATGTATTTCTCCTGTTTTGATAACTTTTAATGTGTTGGTAAAATGTACAGAGTCCTGTCACATATTCATCAGGATAGATATTTCATTGATTTGCAATTTGGTATTTTCTGGGTTCTGAATGTGCCATTTTGTTCTGGTTTGCAATTCTAAAAGTGAATATGTAACCATCCAGCTGAGTTTTTTTTTTTTATGTATGGGGAAATACTTTTCTTTTCTTTTCATATTTTTAACATACAAGTATGTAATGCTGATATTTTCTAAATATAACATTGTTATGTATATGTTCTGATGTTGATATTTTAG... | GGTTTGCATTGAAAAAGATGTATTTCTCCTGTTTTGATAACTTTTAATGTGTTGGTAAAATGTACAGAGTCCTGTCACATATTCATCAGGATAGATATTTCATTGATTTGCAATTTGGTATTTTCTGGGTTCTGAATGTGCCATTTTGTTCTGGTTTGCAATTCTAAAAGTGAATATGTAACCATCCAGCTGAGTTTTTTTTTTTTATGTATGGGGAAATACTTTTCTTTTCTTTTCATATTTTTAACATACAAGTATGTAATGCTGATATTTTCTAAATATAACATTGTTATGTATATGTTCTGATGTTGATATTTTAG... | pathogenic | 124,931 |
Chromosome 7, position 116525104, gene CAV1 (caveolin 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | AAAAAAGAAAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGACCCTAATTATTTGTTTACTCATAAATAAGCTTATTTTAAAGCATTCCAAATTTTTTAACTTTTATTTTAGGTTCAAGAGTACATGTGCAGGTTTGTTAAATTTTGTGTCACAGGGATTCGTTGTACAGATTATTTCA... | AAAAAAGAAAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGACCCTAATTATTTGTTTACTCATAAATAAGCTTATTTTAAAGCATTCCAAATTTTTTAACTTTTATTTTAGGTTCAAGAGTACATGTGCAGGTTTGTTAAATTTTGTGTCACAGGGATTCGTTGTACAGATTATTTCA... | benign | 124,966 |
Variant at chromosome 7, position 116526269, gene CAV1: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | AAAATTCCATTGTTCCAGAAAATATCGGTAATAAAATTATAGAAAAGTTAAAGATCTTCATTTCTTATTTCGAAGCGTTTGGGAGACATTTCAGAAACGGATGGGAAATGTTAAATTCTGCATGCCTGCTTAAGTTTCCATCCACACCGACTAGATGTAAACGAGTGTCACCAAAAGTACACCACAGGCACCCACACAGATTCCTTCCATAAGGGATCCACAAAGTTTAGATGTGAAATGTACCTAAAGGTTCCTAGCCGTCTTTCATCCCTCCCTCTGTGAAACAGGGAGACACATGTGTTTTAAGGCAGAGATGGAAC... | AAAATTCCATTGTTCCAGAAAATATCGGTAATAAAATTATAGAAAAGTTAAAGATCTTCATTTCTTATTTCGAAGCGTTTGGGAGACATTTCAGAAACGGATGGGAAATGTTAAATTCTGCATGCCTGCTTAAGTTTCCATCCACACCGACTAGATGTAAACGAGTGTCACCAAAAGTACACCACAGGCACCCACACAGATTCCTTCCATAAGGGATCCACAAAGTTTAGATGTGAAATGTACCTAAAGGTTCCTAGCCGTCTTTCATCCCTCCCTCTGTGAAACAGGGAGACACATGTGTTTTAAGGCAGAGATGGAAC... | benign | 124,974 |
Regarding the variant found on chromosome 7 at position 116739934 in gene MET (MET proto-oncogene, receptor tyrosine kinase): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TTGCTTATTATAGATTTGGGAAATGGTATTAAAAAGAGCAAGAAGGTAGGAGAAAAAAAGGGCTCTAGGAGGTGATTGTTATGTAGCCGGTCTAAGTAGAACGGAGGAAACCAGGGAGACAGACACAAAATGCAGGTGTCCATTGCAAGGTTCATAGTGATGAATAATCTTCAGTGAAGTGCAAAGCATAGAATGAGCTGGAAAACAAAGTCAGGGTATTAAGACAGACTGGTGTTCTGTGTTGCTTTTGACCTGTGTGTGAGAAAAGGAGTTTTTTTGCTTTTGTGTTTTTGTTTTTGTTTTGTTTTTTGTTTTACCTT... | TTGCTTATTATAGATTTGGGAAATGGTATTAAAAAGAGCAAGAAGGTAGGAGAAAAAAAGGGCTCTAGGAGGTGATTGTTATGTAGCCGGTCTAAGTAGAACGGAGGAAACCAGGGAGACAGACACAAAATGCAGGTGTCCATTGCAAGGTTCATAGTGATGAATAATCTTCAGTGAAGTGCAAAGCATAGAATGAGCTGGAAAACAAAGTCAGGGTATTAAGACAGACTGGTGTTCTGTGTTGCTTTTGACCTGTGTGTGAGAAAAGGAGTTTTTTTGCTTTTGTGTTTTTGTTTTTGTTTTGTTTTTTGTTTTACCTT... | benign | 125,244 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 116740835, gene MET (MET proto-oncogene, receptor tyrosine kinase): what disease(s) if pathogenic? | benign | AACATTTATATGTTGTATGTGTTTGTTAGAGTACAAAGCAGTTAATTATTGCTGTAATTTTCATTCCCATTATACGAATGAGAAAGCTGAGGTAGAGGGAGTGACTATGTAATCGTAATCTCACAGATGTCCATGTTTGTCCTGTGATTTCATACCCATCGCGAGTAAATGCATGTTCAATGCAATGTAAAAGGCTATTAGAGATGTTGGGCAATTTCACAAAGTAGATTTCAAGTCTAGGGCTGTGCTGAGCCTCCTCCACCTTCATGTATATGCAACCCAGTGGCCTACTTAAGAGTGAAAGTTTCTCTGAGAACTCC... | AACATTTATATGTTGTATGTGTTTGTTAGAGTACAAAGCAGTTAATTATTGCTGTAATTTTCATTCCCATTATACGAATGAGAAAGCTGAGGTAGAGGGAGTGACTATGTAATCGTAATCTCACAGATGTCCATGTTTGTCCTGTGATTTCATACCCATCGCGAGTAAATGCATGTTCAATGCAATGTAAAAGGCTATTAGAGATGTTGGGCAATTTCACAAAGTAGATTTCAAGTCTAGGGCTGTGCTGAGCCTCCTCCACCTTCATGTATATGCAACCCAGTGGCCTACTTAAGAGTGAAAGTTTCTCTGAGAACTCC... | benign | 125,267 |
Variant at chromosome position 116741067, chromosome 7, gene MET (MET proto-oncogene, receptor tyrosine kinase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AAGTCTAGGGCTGTGCTGAGCCTCCTCCACCTTCATGTATATGCAACCCAGTGGCCTACTTAAGAGTGAAAGTTTCTCTGAGAACTCCAACACCCTCCTAAAAATCTAAGTGTTCATGTAAGATAATCATTTGGATTTTATCCCAATTGTTGTCAATTATGCTCTGAACTTTATTATTACTGGGTTCTAGGAACAGGACAGATGGAAATTAGATAGCTGGGAAACATCCCAAATTTTAAAAACCTGAAAGCAAAAATGACATCAATCATCAAACCTCATTTCCCGGGCATTGTTAAAACCATCAGGCCTTATTTTAAAGC... | AAGTCTAGGGCTGTGCTGAGCCTCCTCCACCTTCATGTATATGCAACCCAGTGGCCTACTTAAGAGTGAAAGTTTCTCTGAGAACTCCAACACCCTCCTAAAAATCTAAGTGTTCATGTAAGATAATCATTTGGATTTTATCCCAATTGTTGTCAATTATGCTCTGAACTTTATTATTACTGGGTTCTAGGAACAGGACAGATGGAAATTAGATAGCTGGGAAACATCCCAAATTTTAAAAACCTGAAAGCAAAAATGACATCAATCATCAAACCTCATTTCCCGGGCATTGTTAAAACCATCAGGCCTTATTTTAAAGC... | benign | 125,307 |
Clinical significance of chromosome 7, position 116741067, gene MET (MET proto-oncogene, receptor tyrosine kinase): benign or pathogenic? Name the disease(s) if pathogenic. | benign | AAGTCTAGGGCTGTGCTGAGCCTCCTCCACCTTCATGTATATGCAACCCAGTGGCCTACTTAAGAGTGAAAGTTTCTCTGAGAACTCCAACACCCTCCTAAAAATCTAAGTGTTCATGTAAGATAATCATTTGGATTTTATCCCAATTGTTGTCAATTATGCTCTGAACTTTATTATTACTGGGTTCTAGGAACAGGACAGATGGAAATTAGATAGCTGGGAAACATCCCAAATTTTAAAAACCTGAAAGCAAAAATGACATCAATCATCAAACCTCATTTCCCGGGCATTGTTAAAACCATCAGGCCTTATTTTAAAGC... | AAGTCTAGGGCTGTGCTGAGCCTCCTCCACCTTCATGTATATGCAACCCAGTGGCCTACTTAAGAGTGAAAGTTTCTCTGAGAACTCCAACACCCTCCTAAAAATCTAAGTGTTCATGTAAGATAATCATTTGGATTTTATCCCAATTGTTGTCAATTATGCTCTGAACTTTATTATTACTGGGTTCTAGGAACAGGACAGATGGAAATTAGATAGCTGGGAAACATCCCAAATTTTAAAAACCTGAAAGCAAAAATGACATCAATCATCAAACCTCATTTCCCGGGCATTGTTAAAACCATCAGGCCTTATTTTAAAGC... | benign | 125,308 |
For chromosome 7, position 116757424, gene MET (MET proto-oncogene, receptor tyrosine kinase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CTTGAAGGAGGGACAAGGCTGACCATATGTGGCTGGGACTTTGGATTTCGGAGGAATAATAAATTTGATTTAAAGAAAACTAGAGTTCTCCTTGGAAATGAGAGCTGCACCTTGACTTTAAGTGAGAGCACGATGAATACGTAAGGATCTTAAAATGCTTTGCTGGGGTGTGCTTGGAAAATAGGTTTTGTTTTTGAATGAATATTTCTTTTAAAATTGCTCAAGAAGCTCATCTCTTGAATTAAAAAGGGTCTTGGCCTGTCACATGCCTTGTGGGTCTGTTCTGTTTTGTTCTTGTAATCCCATTTACTCATTGGATT... | CTTGAAGGAGGGACAAGGCTGACCATATGTGGCTGGGACTTTGGATTTCGGAGGAATAATAAATTTGATTTAAAGAAAACTAGAGTTCTCCTTGGAAATGAGAGCTGCACCTTGACTTTAAGTGAGAGCACGATGAATACGTAAGGATCTTAAAATGCTTTGCTGGGGTGTGCTTGGAAAATAGGTTTTGTTTTTGAATGAATATTTCTTTTAAAATTGCTCAAGAAGCTCATCTCTTGAATTAAAAAGGGTCTTGGCCTGTCACATGCCTTGTGGGTCTGTTCTGTTTTGTTCTTGTAATCCCATTTACTCATTGGATT... | benign | 125,336 |
Mutation found at chromosome 7 position 116757548, gene MET (MET proto-oncogene, receptor tyrosine kinase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | AGAGCACGATGAATACGTAAGGATCTTAAAATGCTTTGCTGGGGTGTGCTTGGAAAATAGGTTTTGTTTTTGAATGAATATTTCTTTTAAAATTGCTCAAGAAGCTCATCTCTTGAATTAAAAAGGGTCTTGGCCTGTCACATGCCTTGTGGGTCTGTTCTGTTTTGTTCTTGTAATCCCATTTACTCATTGGATTTGAAGAGAGAGAAAGGTGACATGGCCTAGGTGAAGAGAAGAGGCCAGAAATGGGAGTTTCTCAACCATTTATGCGACAAGTCTTCAGGTGTTGTCTGAGTAGATTTGCAAGAGTAGCACTAGTT... | AGAGCACGATGAATACGTAAGGATCTTAAAATGCTTTGCTGGGGTGTGCTTGGAAAATAGGTTTTGTTTTTGAATGAATATTTCTTTTAAAATTGCTCAAGAAGCTCATCTCTTGAATTAAAAAGGGTCTTGGCCTGTCACATGCCTTGTGGGTCTGTTCTGTTTTGTTCTTGTAATCCCATTTACTCATTGGATTTGAAGAGAGAGAAAGGTGACATGGCCTAGGTGAAGAGAAGAGGCCAGAAATGGGAGTTTCTCAACCATTTATGCGACAAGTCTTCAGGTGTTGTCTGAGTAGATTTGCAAGAGTAGCACTAGTT... | benign | 125,355 |
Mutation found at chromosome 7 position 116758442, gene MET (MET proto-oncogene, receptor tyrosine kinase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GGGTTACACAAAGGTCCGAATCTATCCATTTTACTGAGACCAAAACACTAATGAAGGTAATATTTGTTAGCTGAATGGCAAAACAAATTTTTTCTAGAAATCTCCCTTGTAAAATCTCCAAAACTCTTAATCATTGCATATAAATCAGGACCTGTAAAAGTAAAGCATAATTCATTCTCTCCTTTAAAAAGTTATTTAATAAATCAAATTGTATTTAAATTTTCTCAGAACTATATGATTATTCATTCAGAAATAATTCTATGGAAAGCCATCACAATTTCATTATCATTTAAGTAATTTAAATAAGCATGTACAAGTAT... | GGGTTACACAAAGGTCCGAATCTATCCATTTTACTGAGACCAAAACACTAATGAAGGTAATATTTGTTAGCTGAATGGCAAAACAAATTTTTTCTAGAAATCTCCCTTGTAAAATCTCCAAAACTCTTAATCATTGCATATAAATCAGGACCTGTAAAAGTAAAGCATAATTCATTCTCTCCTTTAAAAAGTTATTTAATAAATCAAATTGTATTTAAATTTTCTCAGAACTATATGATTATTCATTCAGAAATAATTCTATGGAAAGCCATCACAATTTCATTATCATTTAAGTAATTTAAATAAGCATGTACAAGTAT... | benign | 125,384 |
For chromosome 7, position 116758444, gene MET (MET proto-oncogene, receptor tyrosine kinase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GTTACACAAAGGTCCGAATCTATCCATTTTACTGAGACCAAAACACTAATGAAGGTAATATTTGTTAGCTGAATGGCAAAACAAATTTTTTCTAGAAATCTCCCTTGTAAAATCTCCAAAACTCTTAATCATTGCATATAAATCAGGACCTGTAAAAGTAAAGCATAATTCATTCTCTCCTTTAAAAAGTTATTTAATAAATCAAATTGTATTTAAATTTTCTCAGAACTATATGATTATTCATTCAGAAATAATTCTATGGAAAGCCATCACAATTTCATTATCATTTAAGTAATTTAAATAAGCATGTACAAGTATAA... | GTTACACAAAGGTCCGAATCTATCCATTTTACTGAGACCAAAACACTAATGAAGGTAATATTTGTTAGCTGAATGGCAAAACAAATTTTTTCTAGAAATCTCCCTTGTAAAATCTCCAAAACTCTTAATCATTGCATATAAATCAGGACCTGTAAAAGTAAAGCATAATTCATTCTCTCCTTTAAAAAGTTATTTAATAAATCAAATTGTATTTAAATTTTCTCAGAACTATATGATTATTCATTCAGAAATAATTCTATGGAAAGCCATCACAATTTCATTATCATTTAAGTAATTTAAATAAGCATGTACAAGTATAA... | benign | 125,385 |
A mutation at chromosome position 116758444 on chromosome 7 in gene MET (MET proto-oncogene, receptor tyrosine kinase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GTTACACAAAGGTCCGAATCTATCCATTTTACTGAGACCAAAACACTAATGAAGGTAATATTTGTTAGCTGAATGGCAAAACAAATTTTTTCTAGAAATCTCCCTTGTAAAATCTCCAAAACTCTTAATCATTGCATATAAATCAGGACCTGTAAAAGTAAAGCATAATTCATTCTCTCCTTTAAAAAGTTATTTAATAAATCAAATTGTATTTAAATTTTCTCAGAACTATATGATTATTCATTCAGAAATAATTCTATGGAAAGCCATCACAATTTCATTATCATTTAAGTAATTTAAATAAGCATGTACAAGTATAA... | GTTACACAAAGGTCCGAATCTATCCATTTTACTGAGACCAAAACACTAATGAAGGTAATATTTGTTAGCTGAATGGCAAAACAAATTTTTTCTAGAAATCTCCCTTGTAAAATCTCCAAAACTCTTAATCATTGCATATAAATCAGGACCTGTAAAAGTAAAGCATAATTCATTCTCTCCTTTAAAAAGTTATTTAATAAATCAAATTGTATTTAAATTTTCTCAGAACTATATGATTATTCATTCAGAAATAATTCTATGGAAAGCCATCACAATTTCATTATCATTTAAGTAATTTAAATAAGCATGTACAAGTATAA... | benign | 125,387 |
A genetic variant at chromosome 7, position 116758444, affecting gene MET (MET proto-oncogene, receptor tyrosine kinase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GTTACACAAAGGTCCGAATCTATCCATTTTACTGAGACCAAAACACTAATGAAGGTAATATTTGTTAGCTGAATGGCAAAACAAATTTTTTCTAGAAATCTCCCTTGTAAAATCTCCAAAACTCTTAATCATTGCATATAAATCAGGACCTGTAAAAGTAAAGCATAATTCATTCTCTCCTTTAAAAAGTTATTTAATAAATCAAATTGTATTTAAATTTTCTCAGAACTATATGATTATTCATTCAGAAATAATTCTATGGAAAGCCATCACAATTTCATTATCATTTAAGTAATTTAAATAAGCATGTACAAGTATAA... | GTTACACAAAGGTCCGAATCTATCCATTTTACTGAGACCAAAACACTAATGAAGGTAATATTTGTTAGCTGAATGGCAAAACAAATTTTTTCTAGAAATCTCCCTTGTAAAATCTCCAAAACTCTTAATCATTGCATATAAATCAGGACCTGTAAAAGTAAAGCATAATTCATTCTCTCCTTTAAAAAGTTATTTAATAAATCAAATTGTATTTAAATTTTCTCAGAACTATATGATTATTCATTCAGAAATAATTCTATGGAAAGCCATCACAATTTCATTATCATTTAAGTAATTTAAATAAGCATGTACAAGTATAA... | benign | 125,388 |
Classify the chromosome 7 variant at position 116769621 affecting gene MET (MET proto-oncogene, receptor tyrosine kinase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | ATCTTTGCAGGATAATATGAGATGATTATAACTAAATTGCTCTATGTCTGTTGGAGATTAAAGATCAGAAAGCTCTCTCTCTTTTGTTGCTTTATTTTTAAACCCACATATTACCATTTTAGTGACTGAAATCACCCTGAAGCAGTTGAATGACTTTTATTTAATAATAGTTAATATTCAATAATAAATATTAATATAATTAATAGTAAAATTTCTAAATATAAGTTTTTTAGCATCTCAATAAAGCTATGTTTACTTTCTTTTATTTTAAATGACAAAAATTAGCCTATACCTTTTAAAATTTTTCCTTTTTTGGGCCC... | ATCTTTGCAGGATAATATGAGATGATTATAACTAAATTGCTCTATGTCTGTTGGAGATTAAAGATCAGAAAGCTCTCTCTCTTTTGTTGCTTTATTTTTAAACCCACATATTACCATTTTAGTGACTGAAATCACCCTGAAGCAGTTGAATGACTTTTATTTAATAATAGTTAATATTCAATAATAAATATTAATATAATTAATAGTAAAATTTCTAAATATAAGTTTTTTAGCATCTCAATAAAGCTATGTTTACTTTCTTTTATTTTAAATGACAAAAATTAGCCTATACCTTTTAAAATTTTTCCTTTTTTGGGCCC... | benign | 125,467 |
The genetic variant at chromosome 7, position 116769621, affecting gene MET (MET proto-oncogene, receptor tyrosine kinase): benign or pathogenic? Disease name(s) if pathogenic? | benign | ATCTTTGCAGGATAATATGAGATGATTATAACTAAATTGCTCTATGTCTGTTGGAGATTAAAGATCAGAAAGCTCTCTCTCTTTTGTTGCTTTATTTTTAAACCCACATATTACCATTTTAGTGACTGAAATCACCCTGAAGCAGTTGAATGACTTTTATTTAATAATAGTTAATATTCAATAATAAATATTAATATAATTAATAGTAAAATTTCTAAATATAAGTTTTTTAGCATCTCAATAAAGCTATGTTTACTTTCTTTTATTTTAAATGACAAAAATTAGCCTATACCTTTTAAAATTTTTCCTTTTTTGGGCCC... | ATCTTTGCAGGATAATATGAGATGATTATAACTAAATTGCTCTATGTCTGTTGGAGATTAAAGATCAGAAAGCTCTCTCTCTTTTGTTGCTTTATTTTTAAACCCACATATTACCATTTTAGTGACTGAAATCACCCTGAAGCAGTTGAATGACTTTTATTTAATAATAGTTAATATTCAATAATAAATATTAATATAATTAATAGTAAAATTTCTAAATATAAGTTTTTTAGCATCTCAATAAAGCTATGTTTACTTTCTTTTATTTTAAATGACAAAAATTAGCCTATACCTTTTAAAATTTTTCCTTTTTTGGGCCC... | benign | 125,468 |
The chromosome 7, position 116769621 genetic variant in gene MET (MET proto-oncogene, receptor tyrosine kinase): benign or pathogenic? If pathogenic, indicate disease(s). | benign | ATCTTTGCAGGATAATATGAGATGATTATAACTAAATTGCTCTATGTCTGTTGGAGATTAAAGATCAGAAAGCTCTCTCTCTTTTGTTGCTTTATTTTTAAACCCACATATTACCATTTTAGTGACTGAAATCACCCTGAAGCAGTTGAATGACTTTTATTTAATAATAGTTAATATTCAATAATAAATATTAATATAATTAATAGTAAAATTTCTAAATATAAGTTTTTTAGCATCTCAATAAAGCTATGTTTACTTTCTTTTATTTTAAATGACAAAAATTAGCCTATACCTTTTAAAATTTTTCCTTTTTTGGGCCC... | ATCTTTGCAGGATAATATGAGATGATTATAACTAAATTGCTCTATGTCTGTTGGAGATTAAAGATCAGAAAGCTCTCTCTCTTTTGTTGCTTTATTTTTAAACCCACATATTACCATTTTAGTGACTGAAATCACCCTGAAGCAGTTGAATGACTTTTATTTAATAATAGTTAATATTCAATAATAAATATTAATATAATTAATAGTAAAATTTCTAAATATAAGTTTTTTAGCATCTCAATAAAGCTATGTTTACTTTCTTTTATTTTAAATGACAAAAATTAGCCTATACCTTTTAAAATTTTTCCTTTTTTGGGCCC... | benign | 125,469 |
Clinical impact (benign or pathogenic) of the variant at chromosome 7, location 116771825, gene MET (MET proto-oncogene, receptor tyrosine kinase): what disease(s) if pathogenic? | benign | GAGCTAAATATAGAGGTGGGATTCCTGCATTCCTCTCATGATGTAAATAAGGAAGCCAGTGTAATTATGTTATTCTCAGGCTTAAAATAAATCATTAAAGCTCATTTATGTGTGGGTTTTGGCTCATCAACTCAGCCTGCATTCCTAGTTGTTATTTTAGAAATAGTGAGCTTTTTGCCACATTGTCTCCTTCCCCAAGCCTGGGAGGTAGATCTCAAAAGTTCTTTCTACCCACACTGCTTCTCCATCACGCCACACTCTTCCCAAAATTTGCTGTAATTCTCAGAAGAAATAAGGATGCATCCAAGAGTGTCCTTCTA... | GAGCTAAATATAGAGGTGGGATTCCTGCATTCCTCTCATGATGTAAATAAGGAAGCCAGTGTAATTATGTTATTCTCAGGCTTAAAATAAATCATTAAAGCTCATTTATGTGTGGGTTTTGGCTCATCAACTCAGCCTGCATTCCTAGTTGTTATTTTAGAAATAGTGAGCTTTTTGCCACATTGTCTCCTTCCCCAAGCCTGGGAGGTAGATCTCAAAAGTTCTTTCTACCCACACTGCTTCTCCATCACGCCACACTCTTCCCAAAATTTGCTGTAATTCTCAGAAGAAATAAGGATGCATCCAAGAGTGTCCTTCTA... | benign | 125,522 |
Mutation at chromosome 7, position 116771828, within MET (MET proto-oncogene, receptor tyrosine kinase): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CTAAATATAGAGGTGGGATTCCTGCATTCCTCTCATGATGTAAATAAGGAAGCCAGTGTAATTATGTTATTCTCAGGCTTAAAATAAATCATTAAAGCTCATTTATGTGTGGGTTTTGGCTCATCAACTCAGCCTGCATTCCTAGTTGTTATTTTAGAAATAGTGAGCTTTTTGCCACATTGTCTCCTTCCCCAAGCCTGGGAGGTAGATCTCAAAAGTTCTTTCTACCCACACTGCTTCTCCATCACGCCACACTCTTCCCAAAATTTGCTGTAATTCTCAGAAGAAATAAGGATGCATCCAAGAGTGTCCTTCTACTG... | CTAAATATAGAGGTGGGATTCCTGCATTCCTCTCATGATGTAAATAAGGAAGCCAGTGTAATTATGTTATTCTCAGGCTTAAAATAAATCATTAAAGCTCATTTATGTGTGGGTTTTGGCTCATCAACTCAGCCTGCATTCCTAGTTGTTATTTTAGAAATAGTGAGCTTTTTGCCACATTGTCTCCTTCCCCAAGCCTGGGAGGTAGATCTCAAAAGTTCTTTCTACCCACACTGCTTCTCCATCACGCCACACTCTTCCCAAAATTTGCTGTAATTCTCAGAAGAAATAAGGATGCATCCAAGAGTGTCCTTCTACTG... | benign | 125,523 |
Is the genetic mutation found on chromosome 7 at position 116771833, within the gene MET (MET proto-oncogene, receptor tyrosine kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TATAGAGGTGGGATTCCTGCATTCCTCTCATGATGTAAATAAGGAAGCCAGTGTAATTATGTTATTCTCAGGCTTAAAATAAATCATTAAAGCTCATTTATGTGTGGGTTTTGGCTCATCAACTCAGCCTGCATTCCTAGTTGTTATTTTAGAAATAGTGAGCTTTTTGCCACATTGTCTCCTTCCCCAAGCCTGGGAGGTAGATCTCAAAAGTTCTTTCTACCCACACTGCTTCTCCATCACGCCACACTCTTCCCAAAATTTGCTGTAATTCTCAGAAGAAATAAGGATGCATCCAAGAGTGTCCTTCTACTGCCTCC... | TATAGAGGTGGGATTCCTGCATTCCTCTCATGATGTAAATAAGGAAGCCAGTGTAATTATGTTATTCTCAGGCTTAAAATAAATCATTAAAGCTCATTTATGTGTGGGTTTTGGCTCATCAACTCAGCCTGCATTCCTAGTTGTTATTTTAGAAATAGTGAGCTTTTTGCCACATTGTCTCCTTCCCCAAGCCTGGGAGGTAGATCTCAAAAGTTCTTTCTACCCACACTGCTTCTCCATCACGCCACACTCTTCCCAAAATTTGCTGTAATTCTCAGAAGAAATAAGGATGCATCCAAGAGTGTCCTTCTACTGCCTCC... | benign | 125,526 |
Evaluate the clinical significance of the mutation at chromosome 7, position 116777374 in gene MET (MET proto-oncogene, receptor tyrosine kinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | AATATATTAGAACTAAATCACAATTCGTCCTCGTCCTGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTT... | AATATATTAGAACTAAATCACAATTCGTCCTCGTCCTGTGTGTACTAGCAATTATAGTTTCTTCAAAGGTGCCATTTACTTTCTTCTAAAACTCAGGGCCAGGCGCAGTGGCTCACACGTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAAACCATCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTTTAATCCCAACTACTGGGGAGGCTGAAGCAAGGAGAATTGCTTGAACCCAGGAGGTGGAAGTT... | benign | 125,571 |
Regarding the variant found on chromosome 7 at position 116781971 in gene MET (MET proto-oncogene, receptor tyrosine kinase): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GATAATAAACAAATAAACAATAGCTATATAGATGTATATGTATGCATATATATGTACACACACCCTCATCCCATTAGAATGGAAGCTCATGAGGGTAGGATTTTTGTGTATTTTGTTCACTGCTGTGGCTCCAACACCTAAAACAGTGTTTAGCACATAGACTCGCAGTAAATAATTGTTGAATGAATCAGCTAAGGGTTACAAAAAAAGGTTCTTAGCCTCTTGCAAGTGGTAGATTTTTTTCTTGACATTTATGCCAGGACCTAAAAGTCACCAGGCCAGGACCAGGGAGGGTGGGAATAAGAATCTCAAGAACTGAA... | GATAATAAACAAATAAACAATAGCTATATAGATGTATATGTATGCATATATATGTACACACACCCTCATCCCATTAGAATGGAAGCTCATGAGGGTAGGATTTTTGTGTATTTTGTTCACTGCTGTGGCTCCAACACCTAAAACAGTGTTTAGCACATAGACTCGCAGTAAATAATTGTTGAATGAATCAGCTAAGGGTTACAAAAAAAGGTTCTTAGCCTCTTGCAAGTGGTAGATTTTTTTCTTGACATTTATGCCAGGACCTAAAAGTCACCAGGCCAGGACCAGGGAGGGTGGGAATAAGAATCTCAAGAACTGAA... | benign | 125,631 |
Variant at chromosome position 117480081, chromosome 7, gene CFTR: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | AATGTCTGGCAAATAGTAAGAACTCAAGTAACTGTTTCACTCTTTCCAGAAGGAGATTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGA... | AATGTCTGGCAAATAGTAAGAACTCAAGTAACTGTTTCACTCTTTCCAGAAGGAGATTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGA... | pathogenic | 125,760 |
Clinical significance of chromosome 7, position 117480101, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | AACTCAAGTAACTGTTTCACTCTTTCCAGAAGGAGATTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTGTCAT... | AACTCAAGTAACTGTTTCACTCTTTCCAGAAGGAGATTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTGTCAT... | pathogenic | 125,767 |
Does the genetic variant at chromosome 7, position 117480117, impacting gene CFTR (CF transmembrane conductance regulator), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | TCACTCTTTCCAGAAGGAGATTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTGTCATAATGGAGAGATGAAAA... | TCACTCTTTCCAGAAGGAGATTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTGTCATAATGGAGAGATGAAAA... | pathogenic | 125,772 |
The mutation impacting CFTR (CF transmembrane conductance regulator) on chromosome 7 at position 117480133: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Cystic_fibrosis'] | GAGATTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTGTCATAATGGAGAGATGAAAACACAGGTAGAGGATTT... | GAGATTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTGTCATAATGGAGAGATGAAAACACAGGTAGAGGATTT... | pathogenic | 125,777 |
Considering the genetic mutation at chromosome 7, position 117480136, impacting CFTR (CF transmembrane conductance regulator): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | ATTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTGTCATAATGGAGAGATGAAAACACAGGTAGAGGATTTCAA... | ATTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTGTCATAATGGAGAGATGAAAACACAGGTAGAGGATTTCAA... | pathogenic | 125,779 |
The mutation impacting CFTR (CF transmembrane conductance regulator) on chromosome 7 at position 117480137: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | TTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTGTCATAATGGAGAGATGAAAACACAGGTAGAGGATTTCAAA... | TTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTGTCATAATGGAGAGATGAAAACACAGGTAGAGGATTTCAAA... | pathogenic | 125,780 |
Gene CFTR (CF transmembrane conductance regulator) variant at chromosome 7, position 117480137—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cystic_fibrosis'] | TTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTGTCATAATGGAGAGATGAAAACACAGGTAGAGGATTTCAAA... | TTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTGTCATAATGGAGAGATGAAAACACAGGTAGAGGATTTCAAA... | pathogenic | 125,781 |
Regarding the variant at chromosome 7 and position 117480137, affecting gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['CFTR-related_disorder', 'Cystic_fibrosis'] | TTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTGTCATAATGGAGAGATGAAAACACAGGTAGAGGATTTCAAA... | TTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTGTCATAATGGAGAGATGAAAACACAGGTAGAGGATTTCAAA... | pathogenic | 125,782 |
Clinical classification of chromosome 7, position 117480137, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Cystic_fibrosis'] | TTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTGTCATAATGGAGAGATGAAAACACAGGTAGAGGATTTCAAA... | TTGGCTGAAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTGTCATAATGGAGAGATGAAAACACAGGTAGAGGATTTCAAA... | pathogenic | 125,783 |
Evaluate this variant at chromosome 7, position 117480144, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cystic_fibrosis'] | AAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTGTCATAATGGAGAGATGAAAACACAGGTAGAGGATTTCAAACAACAGA... | AAAAATATTTGGAGTCTCCTCCAGCCATATTCCTTGGTCAGCTTCTATGATCCTCTTTGGAGCTTAATTCTTAATCCCTTTATTTTCACTTGCTTGTTGATAACAAAGAAGAACTAATTATTAATTTATTTCAAAATGCATGTATTATATTTGATGGGCCACACTAACAGTTATAAACCAAACAACAGATTGGGAATGGGGAAGTGGATGTGGTGAGTTCAATCACATGTCTGGGAAAAGTCAATAGTGAAGACAGAGTCTCACAATTTTTTGTCATAATGGAGAGATGAAAACACAGGTAGAGGATTTCAAACAACAGA... | pathogenic | 125,785 |
Does the variant impacting CFTR (CF transmembrane conductance regulator) on chromosome 7, position 117504296, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cystic_fibrosis'] | AGTCAAAAGAATGTGGAAAGACCTAGGCTTTGCCATTTAGTAAAGTTTAGCATCTCTAAGCCTCCATCTCTTTATCAATAAAATTGAGCAATGATCCCTTTTAGTTCTACCCATTTAAGAAGATTTTCAAATGAAAACCACAACCTGCTCATGTTTATGAAGGCACTTTGGAAAGCGCTAAATACACGGGTTTTTATTAGTAGTAAACACTTACTTCACCTTTTTCACTTCTTGACTTTAGTTTACAAGGGCTCATAATCTAAATTATATCATAAATTGCTGTCCCAGATTTTTTTACAGCCTAATTGCCACCTGTATGT... | AGTCAAAAGAATGTGGAAAGACCTAGGCTTTGCCATTTAGTAAAGTTTAGCATCTCTAAGCCTCCATCTCTTTATCAATAAAATTGAGCAATGATCCCTTTTAGTTCTACCCATTTAAGAAGATTTTCAAATGAAAACCACAACCTGCTCATGTTTATGAAGGCACTTTGGAAAGCGCTAAATACACGGGTTTTTATTAGTAGTAAACACTTACTTCACCTTTTTCACTTCTTGACTTTAGTTTACAAGGGCTCATAATCTAAATTATATCATAAATTGCTGTCCCAGATTTTTTTACAGCCTAATTGCCACCTGTATGT... | pathogenic | 125,801 |
Evaluate this variant at chromosome 7, position 117504339, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Cystic_fibrosis'] | AGTTTAGCATCTCTAAGCCTCCATCTCTTTATCAATAAAATTGAGCAATGATCCCTTTTAGTTCTACCCATTTAAGAAGATTTTCAAATGAAAACCACAACCTGCTCATGTTTATGAAGGCACTTTGGAAAGCGCTAAATACACGGGTTTTTATTAGTAGTAAACACTTACTTCACCTTTTTCACTTCTTGACTTTAGTTTACAAGGGCTCATAATCTAAATTATATCATAAATTGCTGTCCCAGATTTTTTTACAGCCTAATTGCCACCTGTATGTTCGACTTTCCTTCTGTTCTTTATGTTAGATACTGGGATAGTAT... | AGTTTAGCATCTCTAAGCCTCCATCTCTTTATCAATAAAATTGAGCAATGATCCCTTTTAGTTCTACCCATTTAAGAAGATTTTCAAATGAAAACCACAACCTGCTCATGTTTATGAAGGCACTTTGGAAAGCGCTAAATACACGGGTTTTTATTAGTAGTAAACACTTACTTCACCTTTTTCACTTCTTGACTTTAGTTTACAAGGGCTCATAATCTAAATTATATCATAAATTGCTGTCCCAGATTTTTTTACAGCCTAATTGCCACCTGTATGTTCGACTTTCCTTCTGTTCTTTATGTTAGATACTGGGATAGTAT... | pathogenic | 125,809 |
For chromosome 7, position 117504350, gene CFTR (CF transmembrane conductance regulator): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cystic_fibrosis'] | TCTAAGCCTCCATCTCTTTATCAATAAAATTGAGCAATGATCCCTTTTAGTTCTACCCATTTAAGAAGATTTTCAAATGAAAACCACAACCTGCTCATGTTTATGAAGGCACTTTGGAAAGCGCTAAATACACGGGTTTTTATTAGTAGTAAACACTTACTTCACCTTTTTCACTTCTTGACTTTAGTTTACAAGGGCTCATAATCTAAATTATATCATAAATTGCTGTCCCAGATTTTTTTACAGCCTAATTGCCACCTGTATGTTCGACTTTCCTTCTGTTCTTTATGTTAGATACTGGGATAGTATGCACCAGGTGG... | TCTAAGCCTCCATCTCTTTATCAATAAAATTGAGCAATGATCCCTTTTAGTTCTACCCATTTAAGAAGATTTTCAAATGAAAACCACAACCTGCTCATGTTTATGAAGGCACTTTGGAAAGCGCTAAATACACGGGTTTTTATTAGTAGTAAACACTTACTTCACCTTTTTCACTTCTTGACTTTAGTTTACAAGGGCTCATAATCTAAATTATATCATAAATTGCTGTCCCAGATTTTTTTACAGCCTAATTGCCACCTGTATGTTCGACTTTCCTTCTGTTCTTTATGTTAGATACTGGGATAGTATGCACCAGGTGG... | pathogenic | 125,813 |
A genetic variant on chromosome 7, position 117504350, affects the gene CFTR (CF transmembrane conductance regulator). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cystic_fibrosis'] | TCTAAGCCTCCATCTCTTTATCAATAAAATTGAGCAATGATCCCTTTTAGTTCTACCCATTTAAGAAGATTTTCAAATGAAAACCACAACCTGCTCATGTTTATGAAGGCACTTTGGAAAGCGCTAAATACACGGGTTTTTATTAGTAGTAAACACTTACTTCACCTTTTTCACTTCTTGACTTTAGTTTACAAGGGCTCATAATCTAAATTATATCATAAATTGCTGTCCCAGATTTTTTTACAGCCTAATTGCCACCTGTATGTTCGACTTTCCTTCTGTTCTTTATGTTAGATACTGGGATAGTATGCACCAGGTGG... | TCTAAGCCTCCATCTCTTTATCAATAAAATTGAGCAATGATCCCTTTTAGTTCTACCCATTTAAGAAGATTTTCAAATGAAAACCACAACCTGCTCATGTTTATGAAGGCACTTTGGAAAGCGCTAAATACACGGGTTTTTATTAGTAGTAAACACTTACTTCACCTTTTTCACTTCTTGACTTTAGTTTACAAGGGCTCATAATCTAAATTATATCATAAATTGCTGTCCCAGATTTTTTTACAGCCTAATTGCCACCTGTATGTTCGACTTTCCTTCTGTTCTTTATGTTAGATACTGGGATAGTATGCACCAGGTGG... | pathogenic | 125,814 |
Located at chromosome 7 position 117504366, the variant affecting gene CFTR (CF transmembrane conductance regulator)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cystic_fibrosis'] | TTTATCAATAAAATTGAGCAATGATCCCTTTTAGTTCTACCCATTTAAGAAGATTTTCAAATGAAAACCACAACCTGCTCATGTTTATGAAGGCACTTTGGAAAGCGCTAAATACACGGGTTTTTATTAGTAGTAAACACTTACTTCACCTTTTTCACTTCTTGACTTTAGTTTACAAGGGCTCATAATCTAAATTATATCATAAATTGCTGTCCCAGATTTTTTTACAGCCTAATTGCCACCTGTATGTTCGACTTTCCTTCTGTTCTTTATGTTAGATACTGGGATAGTATGCACCAGGTGGGTGTGCCATCACTTTC... | TTTATCAATAAAATTGAGCAATGATCCCTTTTAGTTCTACCCATTTAAGAAGATTTTCAAATGAAAACCACAACCTGCTCATGTTTATGAAGGCACTTTGGAAAGCGCTAAATACACGGGTTTTTATTAGTAGTAAACACTTACTTCACCTTTTTCACTTCTTGACTTTAGTTTACAAGGGCTCATAATCTAAATTATATCATAAATTGCTGTCCCAGATTTTTTTACAGCCTAATTGCCACCTGTATGTTCGACTTTCCTTCTGTTCTTTATGTTAGATACTGGGATAGTATGCACCAGGTGGGTGTGCCATCACTTTC... | pathogenic | 125,820 |
Located at chromosome 7 position 117509035, the variant affecting gene CFTR—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | TTGCCAGATGGTTGAAGAACATTAACCTATCTGGCTCAATTTTGTGACCATGGATTGAATCCTCTACATAACTGCAGTGTGCAAACCACACATCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCT... | TTGCCAGATGGTTGAAGAACATTAACCTATCTGGCTCAATTTTGTGACCATGGATTGAATCCTCTACATAACTGCAGTGTGCAAACCACACATCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCT... | pathogenic | 125,827 |
A genetic variant on chromosome 7, position 117509040, affects the gene CFTR. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis', 'likely other unspecified diseases'] | AGATGGTTGAAGAACATTAACCTATCTGGCTCAATTTTGTGACCATGGATTGAATCCTCTACATAACTGCAGTGTGCAAACCACACATCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCTCT... | AGATGGTTGAAGAACATTAACCTATCTGGCTCAATTTTGTGACCATGGATTGAATCCTCTACATAACTGCAGTGTGCAAACCACACATCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCTCT... | pathogenic | 125,832 |
Variant in gene CFTR, located at chromosome 7 position 117509043: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'CFTR-related_disorder', 'Cystic_fibrosis'] | TGGTTGAAGAACATTAACCTATCTGGCTCAATTTTGTGACCATGGATTGAATCCTCTACATAACTGCAGTGTGCAAACCACACATCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCTCTCCT... | TGGTTGAAGAACATTAACCTATCTGGCTCAATTTTGTGACCATGGATTGAATCCTCTACATAACTGCAGTGTGCAAACCACACATCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCTCTCCT... | pathogenic | 125,833 |
Chromosome 7, position 117509083, gene CFTR (CF transmembrane conductance regulator): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bronchiectasis_with_or_without_elevated_sweat_chloride_1', 'Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation', 'Cystic_fibrosis', 'Hereditary_pancreatitis'] | CATGGATTGAATCCTCTACATAACTGCAGTGTGCAAACCACACATCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCTCTCCTGGTCTCTCTACTTCACTTTCATTTACATCTCAGCTCCTGA... | CATGGATTGAATCCTCTACATAACTGCAGTGTGCAAACCACACATCCGTTCCAAGATTGTAGTCAGGATATGAACTTTTTAAGAATAAAACTTCTTCCCTTCTGATCTGGGCCTGGTATGTGGTCCTACTAGAACCACATCACCTACTCTTGGTGCTAACAATTTGTGGCACCAAGTTGTTCAAGTTTCACCCATTAAAGAAATTCCCCGACCTTGCCTTCTCCTCAGGTAACTACCCCATTCTATTTTTTCTTTCATAGCTAACATTCTCTGCTCTCCTGGTCTCTCTACTTCACTTTCATTTACATCTCAGCTCCTGA... | pathogenic | 125,839 |
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