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 |
|---|---|---|---|---|---|
Gene mutation in BAG3 (BAG cochaperone 3) at chromosome 10, position 119651741—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Dilated_cardiomyopathy_1HH', 'Myofibrillar_myopathy_6', 'Primary_dilated_cardiomyopathy'] | AGAAAAGAACATGTTAAGAAAATCATAAGGAAGAGATTTTACATTTACATAAGGAAGAGTAGTACACTTACTACTCATTTAGTGGACGTGATCATCATAAACGTCATCATCCTCATTATCTTCACGTGGAGGCTGAGGAGGGGAAGGAAGAGGAAGGGTTGATTCTCCTGTCAAGGGGTGGCAGAGACAGAAGAGGTGGAGGAGGTGGAAGGGGAGACTGGAGAGGCAAGCACATCGGTGTAACTTTTATTGAAAAAAAATCCATGTACAAGTGGACCTGCTCAATTCAAACCCATGTTAAGGGTCAACTGTACAGTAAT... | AGAAAAGAACATGTTAAGAAAATCATAAGGAAGAGATTTTACATTTACATAAGGAAGAGTAGTACACTTACTACTCATTTAGTGGACGTGATCATCATAAACGTCATCATCCTCATTATCTTCACGTGGAGGCTGAGGAGGGGAAGGAAGAGGAAGGGTTGATTCTCCTGTCAAGGGGTGGCAGAGACAGAAGAGGTGGAGGAGGTGGAAGGGGAGACTGGAGAGGCAAGCACATCGGTGTAACTTTTATTGAAAAAAAATCCATGTACAAGTGGACCTGCTCAATTCAAACCCATGTTAAGGGTCAACTGTACAGTAAT... | pathogenic | 168,593 |
Variant on chromosome 10, at position 119651773, affecting BAG3 (BAG cochaperone 3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Primary_dilated_cardiomyopathy'] | GAGATTTTACATTTACATAAGGAAGAGTAGTACACTTACTACTCATTTAGTGGACGTGATCATCATAAACGTCATCATCCTCATTATCTTCACGTGGAGGCTGAGGAGGGGAAGGAAGAGGAAGGGTTGATTCTCCTGTCAAGGGGTGGCAGAGACAGAAGAGGTGGAGGAGGTGGAAGGGGAGACTGGAGAGGCAAGCACATCGGTGTAACTTTTATTGAAAAAAAATCCATGTACAAGTGGACCTGCTCAATTCAAACCCATGTTAAGGGTCAACTGTACAGTAATCTGAAGTATGTAACCTGATGTTACATTTCTCT... | GAGATTTTACATTTACATAAGGAAGAGTAGTACACTTACTACTCATTTAGTGGACGTGATCATCATAAACGTCATCATCCTCATTATCTTCACGTGGAGGCTGAGGAGGGGAAGGAAGAGGAAGGGTTGATTCTCCTGTCAAGGGGTGGCAGAGACAGAAGAGGTGGAGGAGGTGGAAGGGGAGACTGGAGAGGCAAGCACATCGGTGTAACTTTTATTGAAAAAAAATCCATGTACAAGTGGACCTGCTCAATTCAAACCCATGTTAAGGGTCAACTGTACAGTAATCTGAAGTATGTAACCTGATGTTACATTTCTCT... | pathogenic | 168,597 |
Mutation at chromosome 10, position 119669873, within BAG3 (BAG cochaperone 3): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Dilated_cardiomyopathy_1HH', 'Myofibrillar_myopathy_6'] | ATGAGCCCCTGGGCAGCCAGCAAAAATGACACTGCAGGACTAATGCAGGCTCCGATTTCGGCTGGAAGGAGGAGGACCTCAGTGAGTGGACAGAATGCCCACAGGCACGTTATGACTCAACACTGAGTAGCAGAGGGTTTCTTCAGCGCCTCTTGCTGGCTCCCTGTCAGGGCCATCTCACGGCAGGAATTCAGCTCTGAATGTGAGGCCTGGACCTGCTCCTGCTCTTGGGTGACCTGAGAGTTAAGCAGGCTAATGTAATGCCGCCGCCCTGAGCACGTGGCTGTTCTAATCTGAGAATGCCTGTCTGCCCATGTCCC... | ATGAGCCCCTGGGCAGCCAGCAAAAATGACACTGCAGGACTAATGCAGGCTCCGATTTCGGCTGGAAGGAGGAGGACCTCAGTGAGTGGACAGAATGCCCACAGGCACGTTATGACTCAACACTGAGTAGCAGAGGGTTTCTTCAGCGCCTCTTGCTGGCTCCCTGTCAGGGCCATCTCACGGCAGGAATTCAGCTCTGAATGTGAGGCCTGGACCTGCTCCTGCTCTTGGGTGACCTGAGAGTTAAGCAGGCTAATGTAATGCCGCCGCCCTGAGCACGTGGCTGTTCTAATCTGAGAATGCCTGTCTGCCCATGTCCC... | pathogenic | 168,612 |
The genetic variant at chromosome 10, position 119670135, affecting gene BAG3 (BAG cochaperone 3): benign or pathogenic? Disease name(s) if pathogenic? | benign | GCCGCCGCCCTGAGCACGTGGCTGTTCTAATCTGAGAATGCCTGTCTGCCCATGTCCCCAAGGACACAGTGACACCCATGCCTTTCCTGTGTGCTGGAGGCCCTCCAAGGGCAGGGTCTCAGCAGGAGGGAGGCAGTTGATGGGCCTGAAAGGGCTAAACCAGGGTCAGCCACCTGGTGCCCACGCCTGCACACAAATAGAAACATCACAGAATTAATGGTCTGTTCTCTCAAAGTGCAGAGCAGCCCTCAGTATCTGTCCTTACTTTTGATTGATTCCGCAGCAGTAGAGATTGTCCCCTGCAAGCTCATAGATTGTTA... | GCCGCCGCCCTGAGCACGTGGCTGTTCTAATCTGAGAATGCCTGTCTGCCCATGTCCCCAAGGACACAGTGACACCCATGCCTTTCCTGTGTGCTGGAGGCCCTCCAAGGGCAGGGTCTCAGCAGGAGGGAGGCAGTTGATGGGCCTGAAAGGGCTAAACCAGGGTCAGCCACCTGGTGCCCACGCCTGCACACAAATAGAAACATCACAGAATTAATGGTCTGTTCTCTCAAAGTGCAGAGCAGCCCTCAGTATCTGTCCTTACTTTTGATTGATTCCGCAGCAGTAGAGATTGTCCCCTGCAAGCTCATAGATTGTTA... | benign | 168,637 |
Does the genetic variant at chromosome 10, position 119672353, impacting gene BAG3 (BAG cochaperone 3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1HH', 'Myofibrillar_myopathy_6'] | CTGCAGCATCAGAGGTCACCCAGCAAAGACAGGGTGATGGCCCCACATCATCCCCCAGCATCTCATAGGGCTGTTCTTCAGTGGGGCAGGGCAGGAATCATGTGGCTTCTTTTTGTAGCTAAGGAACGGCTCGGAAGGGCACACTGCAGCCTGCCTGCTCCAGATGCACACAGGTGGAGGGAGCAGAGCTGGGACCGGAAGCCTGGCCTGCCTTCTGGCGCCTAATTTCCATGCTCCTTATTCACACTGGGCTTTCTATTCAGAAGCACAGAGATAGCTGTGCATTATTTTGTTCAGTTCAATGCTTATGGATAAATCTT... | CTGCAGCATCAGAGGTCACCCAGCAAAGACAGGGTGATGGCCCCACATCATCCCCCAGCATCTCATAGGGCTGTTCTTCAGTGGGGCAGGGCAGGAATCATGTGGCTTCTTTTTGTAGCTAAGGAACGGCTCGGAAGGGCACACTGCAGCCTGCCTGCTCCAGATGCACACAGGTGGAGGGAGCAGAGCTGGGACCGGAAGCCTGGCCTGCCTTCTGGCGCCTAATTTCCATGCTCCTTATTCACACTGGGCTTTCTATTCAGAAGCACAGAGATAGCTGTGCATTATTTTGTTCAGTTCAATGCTTATGGATAAATCTT... | pathogenic | 168,651 |
The mutation impacting BAG3 (BAG cochaperone 3) on chromosome 10 at position 119672354: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Dilated_cardiomyopathy_1HH', 'Myocarditis', 'Myofibrillar_myopathy_6', 'Primary_dilated_cardiomyopathy'] | TGCAGCATCAGAGGTCACCCAGCAAAGACAGGGTGATGGCCCCACATCATCCCCCAGCATCTCATAGGGCTGTTCTTCAGTGGGGCAGGGCAGGAATCATGTGGCTTCTTTTTGTAGCTAAGGAACGGCTCGGAAGGGCACACTGCAGCCTGCCTGCTCCAGATGCACACAGGTGGAGGGAGCAGAGCTGGGACCGGAAGCCTGGCCTGCCTTCTGGCGCCTAATTTCCATGCTCCTTATTCACACTGGGCTTTCTATTCAGAAGCACAGAGATAGCTGTGCATTATTTTGTTCAGTTCAATGCTTATGGATAAATCTTA... | TGCAGCATCAGAGGTCACCCAGCAAAGACAGGGTGATGGCCCCACATCATCCCCCAGCATCTCATAGGGCTGTTCTTCAGTGGGGCAGGGCAGGAATCATGTGGCTTCTTTTTGTAGCTAAGGAACGGCTCGGAAGGGCACACTGCAGCCTGCCTGCTCCAGATGCACACAGGTGGAGGGAGCAGAGCTGGGACCGGAAGCCTGGCCTGCCTTCTGGCGCCTAATTTCCATGCTCCTTATTCACACTGGGCTTTCTATTCAGAAGCACAGAGATAGCTGTGCATTATTTTGTTCAGTTCAATGCTTATGGATAAATCTTA... | pathogenic | 168,654 |
Gene BAG3 (BAG cochaperone 3) variant at chromosome position 119672598 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Dilated_cardiomyopathy_1HH', 'Myofibrillar_myopathy_6'] | ACTGGGCTTTCTATTCAGAAGCACAGAGATAGCTGTGCATTATTTTGTTCAGTTCAATGCTTATGGATAAATCTTAACCGCTTGTGGAGCTATGTTGACAGGAAAATGAGACCCCATGCCTGCCCTCACCGTGCACCACAGTTTCAAAAGAAATAAGGAGTCAGGAAGGCAGCTGCTTTAAGACAGCATTTTAATCCTGAAGCCAAACATCTCAGGGATATGTCAATGGATTCTGTGCATTAATAGCTAAAAAATAGTTCTTAATCTGGTTCTTAGCTGAGATTTGAGGCATTCCTAGTAGGATTCCTAAGCAGTAAGTC... | ACTGGGCTTTCTATTCAGAAGCACAGAGATAGCTGTGCATTATTTTGTTCAGTTCAATGCTTATGGATAAATCTTAACCGCTTGTGGAGCTATGTTGACAGGAAAATGAGACCCCATGCCTGCCCTCACCGTGCACCACAGTTTCAAAAGAAATAAGGAGTCAGGAAGGCAGCTGCTTTAAGACAGCATTTTAATCCTGAAGCCAAACATCTCAGGGATATGTCAATGGATTCTGTGCATTAATAGCTAAAAAATAGTTCTTAATCTGGTTCTTAGCTGAGATTTGAGGCATTCCTAGTAGGATTCCTAAGCAGTAAGTC... | pathogenic | 168,680 |
Variant at chromosome position 119676519, chromosome 10, gene BAG3 (BAG cochaperone 3): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Dilated_cardiomyopathy_1HH', 'Myofibrillar_myopathy_6', 'Primary_familial_dilated_cardiomyopathy'] | GTGACCTCCCTTTTAGAGCTGATTCAAAGTTCCCTTTTGGGAGGCTTTCCAGGATTTCACCAAACTGAACGTTATAGTGGAATTGAGTGTTTTAAGCTGGGAATAGTTTAGAAATAATATAGTCCAGTTATTTCCCAGTTGATGAAATTAGGGTGAGATTTTAAAAGAAGTGTTAGATATTCACTTACATGAATAAGAGCCAAGATAAGGCCAAGCGCAGTGGCTCACGCCTGTAATCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGGGTATCACTTAAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTG... | GTGACCTCCCTTTTAGAGCTGATTCAAAGTTCCCTTTTGGGAGGCTTTCCAGGATTTCACCAAACTGAACGTTATAGTGGAATTGAGTGTTTTAAGCTGGGAATAGTTTAGAAATAATATAGTCCAGTTATTTCCCAGTTGATGAAATTAGGGTGAGATTTTAAAAGAAGTGTTAGATATTCACTTACATGAATAAGAGCCAAGATAAGGCCAAGCGCAGTGGCTCACGCCTGTAATCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGGGTATCACTTAAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTG... | pathogenic | 168,696 |
Does the chromosome 10 mutation at position 119676616 within gene BAG3 (BAG cochaperone 3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Dilated_cardiomyopathy_1HH', 'Myofibrillar_myopathy_6', 'Primary_dilated_cardiomyopathy'] | TGGGAATAGTTTAGAAATAATATAGTCCAGTTATTTCCCAGTTGATGAAATTAGGGTGAGATTTTAAAAGAAGTGTTAGATATTCACTTACATGAATAAGAGCCAAGATAAGGCCAAGCGCAGTGGCTCACGCCTGTAATCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGGGTATCACTTAAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAGTTAACCAGGCATGTTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGGGGTGGGAGGA... | TGGGAATAGTTTAGAAATAATATAGTCCAGTTATTTCCCAGTTGATGAAATTAGGGTGAGATTTTAAAAGAAGTGTTAGATATTCACTTACATGAATAAGAGCCAAGATAAGGCCAAGCGCAGTGGCTCACGCCTGTAATCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGGGTATCACTTAAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAGTTAACCAGGCATGTTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGGGGTGGGAGGA... | pathogenic | 168,703 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 10, position 119676684, gene BAG3 (BAG cochaperone 3). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1HH', 'Myofibrillar_myopathy_6'] | AGAAGTGTTAGATATTCACTTACATGAATAAGAGCCAAGATAAGGCCAAGCGCAGTGGCTCACGCCTGTAATCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGGGTATCACTTAAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAGTTAACCAGGCATGTTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGT... | AGAAGTGTTAGATATTCACTTACATGAATAAGAGCCAAGATAAGGCCAAGCGCAGTGGCTCACGCCTGTAATCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGGGTATCACTTAAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAGTTAACCAGGCATGTTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGT... | pathogenic | 168,705 |
A mutation at chromosome position 119676819 on chromosome 10 in gene BAG3 (BAG cochaperone 3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1HH', 'Myofibrillar_myopathy_6'] | CTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAGTTAACCAGGCATGTTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTG... | CTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAGTTAACCAGGCATGTTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTG... | pathogenic | 168,716 |
Is the chromosome 10, position 119676844 variant in BAG3 (BAG cochaperone 3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1HH', 'Myofibrillar_myopathy_6'] | CCATCTCTACTAAAAATACAAAAAAAAAAGTTAACCAGGCATGTTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTT... | CCATCTCTACTAAAAATACAAAAAAAAAAGTTAACCAGGCATGTTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGGGGTGGGAGGATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAACTGAGATCACACCACTGCACACTCCAGCCTGGGTGACAGAGCGAGGCTCCGTCTCAAAAACAAAAACAAAAACAAAAAGCGTCAAGATATTTTTGCTTTGAGCATAGCTCATTAAAAAATATATGGCTTACTAGGCGTGGTGGCTCACACCTATAATCCTAGCACTTTGGGAGGCCGAGGTGGGCAGATTGCTT... | pathogenic | 168,719 |
The chromosome 10, position 119677519 genetic variant in gene BAG3 (BAG cochaperone 3): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GAGTTAACCATTTAGAGCATCTTGGCTAATCCTAAAAAAATACATTGGTCTGGGCAGAAACTACTAGGCTGTCACGGTTTTAAAAAAAGAAGATCGTATCTTTTCTAAAACAGGAGACAAGAAGATCACACCGTGAGCAGACTGTCTGCACAGTGTAAGGAAGAAGGACCAGAGGCAGCGACTCCAAGGCTGCAACACCTGAGAGCTGGAGTCACTCAGGACTCTGCTCTGAGTCAGCCTAGTTCAGCAGTCAGCATGAGTTTTTGCTATTTTTTTCCTTCTTTCCTTCCTTCCTTCCCTCCTTCCCTCCCCCTCCCTTC... | GAGTTAACCATTTAGAGCATCTTGGCTAATCCTAAAAAAATACATTGGTCTGGGCAGAAACTACTAGGCTGTCACGGTTTTAAAAAAAGAAGATCGTATCTTTTCTAAAACAGGAGACAAGAAGATCACACCGTGAGCAGACTGTCTGCACAGTGTAAGGAAGAAGGACCAGAGGCAGCGACTCCAAGGCTGCAACACCTGAGAGCTGGAGTCACTCAGGACTCTGCTCTGAGTCAGCCTAGTTCAGCAGTCAGCATGAGTTTTTGCTATTTTTTTCCTTCTTTCCTTCCTTCCTTCCCTCCTTCCCTCCCCCTCCCTTC... | benign | 168,746 |
Is chromosome 10, position 119677585, gene BAG3 (BAG cochaperone 3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GGCTGTCACGGTTTTAAAAAAAGAAGATCGTATCTTTTCTAAAACAGGAGACAAGAAGATCACACCGTGAGCAGACTGTCTGCACAGTGTAAGGAAGAAGGACCAGAGGCAGCGACTCCAAGGCTGCAACACCTGAGAGCTGGAGTCACTCAGGACTCTGCTCTGAGTCAGCCTAGTTCAGCAGTCAGCATGAGTTTTTGCTATTTTTTTCCTTCTTTCCTTCCTTCCTTCCCTCCTTCCCTCCCCCTCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCC... | GGCTGTCACGGTTTTAAAAAAAGAAGATCGTATCTTTTCTAAAACAGGAGACAAGAAGATCACACCGTGAGCAGACTGTCTGCACAGTGTAAGGAAGAAGGACCAGAGGCAGCGACTCCAAGGCTGCAACACCTGAGAGCTGGAGTCACTCAGGACTCTGCTCTGAGTCAGCCTAGTTCAGCAGTCAGCATGAGTTTTTGCTATTTTTTTCCTTCTTTCCTTCCTTCCTTCCCTCCTTCCCTCCCCCTCCCTTCCCCCCTTCCCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGCCC... | benign | 168,747 |
Mutation at chromosome 10, position 120889969, within WDR11 (WD repeat domain 11): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TTCATTTCTTTAATATTTTTTTTTATTAATGGACTTTATTATAATATTGATTTTTAAATCCAGTTTTTGTTTTGTTTCTTGACTATTACCAGAGTTTTTACGGTATTCAGTGTGTGTGCTAGTCCACTAATGGTCAATTATTCAAACCACTAGAGTTTTCTTACTTTTTACCATGGATACCATTTGAATTTTTATGTTGTACAATAAATGCAAAAATAAAATTTCTTTTAATAAATAGAGAAGTAATTGAGCAGTAATATTATTTAATAGCTAACATGTATTGACTATTTACTGCATGGCAGGCATTGCTTTAAGGCCTT... | TTCATTTCTTTAATATTTTTTTTTATTAATGGACTTTATTATAATATTGATTTTTAAATCCAGTTTTTGTTTTGTTTCTTGACTATTACCAGAGTTTTTACGGTATTCAGTGTGTGTGCTAGTCCACTAATGGTCAATTATTCAAACCACTAGAGTTTTCTTACTTTTTACCATGGATACCATTTGAATTTTTATGTTGTACAATAAATGCAAAAATAAAATTTCTTTTAATAAATAGAGAAGTAATTGAGCAGTAATATTATTTAATAGCTAACATGTATTGACTATTTACTGCATGGCAGGCATTGCTTTAAGGCCTT... | benign | 168,808 |
Regarding the variant at chromosome 10 and position 120904643, affecting gene WDR11 (WD repeat domain 11): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Intellectual_developmental_disorder,_autosomal_recessive_78', 'Microcephaly'] | AATATACCAATAAATTATATTTAGAAGCGATAACCTCTATATCCTGACTTACAGTAGAGTTTGTCACTTATAAAAAAGACTCCTCTCCCCACAGAATAAATAGCACATTACTTTCATACCTTATCTAGCCAGTTATCCCAGAGGAACTTCTTCCTAATGTGAATCAATGGCCCACATTGAAAGGTGTGCTAATGGCAAACCAGGTAAATAATTGTTCTTAACACAGAACAGAAAGATGCTGGAGTCTGAAGGGGTCCTGTGCAGTCAGGCCCCCGTATTGTTGAAGGCCCAGTAGCAGGGCAGGAGAACTTGCTGCCTCC... | AATATACCAATAAATTATATTTAGAAGCGATAACCTCTATATCCTGACTTACAGTAGAGTTTGTCACTTATAAAAAAGACTCCTCTCCCCACAGAATAAATAGCACATTACTTTCATACCTTATCTAGCCAGTTATCCCAGAGGAACTTCTTCCTAATGTGAATCAATGGCCCACATTGAAAGGTGTGCTAATGGCAAACCAGGTAAATAATTGTTCTTAACACAGAACAGAAAGATGCTGGAGTCTGAAGGGGTCCTGTGCAGTCAGGCCCCCGTATTGTTGAAGGCCCAGTAGCAGGGCAGGAGAACTTGCTGCCTCC... | pathogenic | 168,817 |
Clinically, how would you classify the variant at chromosome 10, position 122454968, gene ARMS2 (age-related maculopathy susceptibility 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | AACTGCCAGACTGTTTTCCAAAGCAGCTATACCATTTTACAATCCCACTAGCAGTGCATGAGGATTCTGATTTCTCCACATCCTTGCTGATACTTGTTATCATCTGACTTTTTGATTCTGGCTACCTTAGTGCCTATGAAGTAGTATCTCAATGTGGTTTTGATTTGTTGATTTGCTGATGACTAGAGATGCCAAGCATCTTCTCATGTGTTTATTTGTGCTCTTAGAGTTTTTAATTCAGTTGGTCTGGAATAGTTTTTTTTTTCCTTTTATTTTTTATTTTTTTGAGACAGAGTCTTGCTCTGTCACCAAGCTGGAGT... | AACTGCCAGACTGTTTTCCAAAGCAGCTATACCATTTTACAATCCCACTAGCAGTGCATGAGGATTCTGATTTCTCCACATCCTTGCTGATACTTGTTATCATCTGACTTTTTGATTCTGGCTACCTTAGTGCCTATGAAGTAGTATCTCAATGTGGTTTTGATTTGTTGATTTGCTGATGACTAGAGATGCCAAGCATCTTCTCATGTGTTTATTTGTGCTCTTAGAGTTTTTAATTCAGTTGGTCTGGAATAGTTTTTTTTTTCCTTTTATTTTTTATTTTTTTGAGACAGAGTCTTGCTCTGTCACCAAGCTGGAGT... | benign | 168,999 |
Clinically, how would you classify the variant at chromosome 10, position 122488971, gene HTRA1 (HtrA serine peptidase 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cerebral_arteriopathy,_autosomal_dominant,_with_subcortical_infarcts_and_leukoencephalopathy,_type_2'] | TGGGTGTGTATGCATAGTGTGTATGTGTGAGTTTGTGTGTGTGTGTGCATTTGCATCTCTGTGTATATATGCATGTGTGTTAGGGGCAGGCACACAGGCCTGTTGGTAAATGAGACACAAAATACCTACAAAATACAAAATGTGAGACAGGAAATACAAGCCCCAGTTACTCATTTTTCAGTGCAACAGACATAAGATTACCATGTGAAATTGCTATGAAAGTTTCCGAAAGCTTCCTGTCAATTCGTAGTGAGCAGCTAGCAGAGGAGTGCGGGTCCCTGGAGCCTGCTTGTGCAACGCTGAGCTAGTCCAAGGGGGAA... | TGGGTGTGTATGCATAGTGTGTATGTGTGAGTTTGTGTGTGTGTGTGCATTTGCATCTCTGTGTATATATGCATGTGTGTTAGGGGCAGGCACACAGGCCTGTTGGTAAATGAGACACAAAATACCTACAAAATACAAAATGTGAGACAGGAAATACAAGCCCCAGTTACTCATTTTTCAGTGCAACAGACATAAGATTACCATGTGAAATTGCTATGAAAGTTTCCGAAAGCTTCCTGTCAATTCGTAGTGAGCAGCTAGCAGAGGAGTGCGGGTCCCTGGAGCCTGCTTGTGCAACGCTGAGCTAGTCCAAGGGGGAA... | pathogenic | 169,020 |
Assess the variant on chromosome 10, position 124400886, impacting OAT (ornithine aminotransferase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Ornithine_aminotransferase_deficiency'] | AACCCCATCTCTAATAAAAATACAAAAATTAGCCTGTCGTGGTGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTCGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTGGCGACAGACACTCCAGCCCAACAGAGCAAGGCACTGTCTCAAAAAATAAAATAAATAAAATAAATAAAATTCTAAAAAAGAAAAAAAAGAACTTGGGTATGATACAGATGATTAACTGACATAAAATGGGCAATACTCAAAACCCAGTGAACACTACACATTCCA... | AACCCCATCTCTAATAAAAATACAAAAATTAGCCTGTCGTGGTGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTCGCAGTGAGCCAAGATCATGCCACTGTACTCCAGCCTGGCGACAGACACTCCAGCCCAACAGAGCAAGGCACTGTCTCAAAAAATAAAATAAATAAAATAAATAAAATTCTAAAAAAGAAAAAAAAGAACTTGGGTATGATACAGATGATTAACTGACATAAAATGGGCAATACTCAAAACCCAGTGAACACTACACATTCCA... | pathogenic | 169,133 |
Clinical classification of chromosome 10, position 124401773, gene OAT (ornithine aminotransferase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Ornithine_aminotransferase_deficiency'] | CCAGCAAGGAACACCTAAGGGTTACAAAGGATGTACTAAAACATCAAACACCCAATTAAGTGACAGCCAGCATTATTTTTATTATTGACCCCATAACTGTCATTCATATCATTATTTCTGCTGCTCCTATAACCTCTACTGACACAAAGCATCAAAGTGAGGGAGGGAAGGATAGCAAAGAGGACACTTTCAAGTCCAGACTCACCAACAAAAAAACTTGAACTCTCTAAATACTGCATGACTAATTTAAGGCAGAAAAATAAGTGTCTTAAAGGAACAAGGGTCAAATTGGTTAAATGTGCCTTCATTTAGAAAAGAGC... | CCAGCAAGGAACACCTAAGGGTTACAAAGGATGTACTAAAACATCAAACACCCAATTAAGTGACAGCCAGCATTATTTTTATTATTGACCCCATAACTGTCATTCATATCATTATTTCTGCTGCTCCTATAACCTCTACTGACACAAAGCATCAAAGTGAGGGAGGGAAGGATAGCAAAGAGGACACTTTCAAGTCCAGACTCACCAACAAAAAAACTTGAACTCTCTAAATACTGCATGACTAATTTAAGGCAGAAAAATAAGTGTCTTAAAGGAACAAGGGTCAAATTGGTTAAATGTGCCTTCATTTAGAAAAGAGC... | pathogenic | 169,142 |
Is the variant located on chromosome 10 at position 124401787, gene OAT (ornithine aminotransferase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ornithine_aminotransferase_deficiency'] | CTAAGGGTTACAAAGGATGTACTAAAACATCAAACACCCAATTAAGTGACAGCCAGCATTATTTTTATTATTGACCCCATAACTGTCATTCATATCATTATTTCTGCTGCTCCTATAACCTCTACTGACACAAAGCATCAAAGTGAGGGAGGGAAGGATAGCAAAGAGGACACTTTCAAGTCCAGACTCACCAACAAAAAAACTTGAACTCTCTAAATACTGCATGACTAATTTAAGGCAGAAAAATAAGTGTCTTAAAGGAACAAGGGTCAAATTGGTTAAATGTGCCTTCATTTAGAAAAGAGCTATATTTTTTATAC... | CTAAGGGTTACAAAGGATGTACTAAAACATCAAACACCCAATTAAGTGACAGCCAGCATTATTTTTATTATTGACCCCATAACTGTCATTCATATCATTATTTCTGCTGCTCCTATAACCTCTACTGACACAAAGCATCAAAGTGAGGGAGGGAAGGATAGCAAAGAGGACACTTTCAAGTCCAGACTCACCAACAAAAAAACTTGAACTCTCTAAATACTGCATGACTAATTTAAGGCAGAAAAATAAGTGTCTTAAAGGAACAAGGGTCAAATTGGTTAAATGTGCCTTCATTTAGAAAAGAGCTATATTTTTTATAC... | pathogenic | 169,143 |
Does the variant on chromosome 10 at location 124402930 affecting gene OAT (ornithine aminotransferase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Ornithine_aminotransferase_deficiency'] | CTCTTACGGCAGTTACAACATCAGAAGGTAGCTTCATGAGTTCATTTCTCAAGATAATGCCCAATTTGTCTGCATTTTCAGCAAGGTTTTCTTCTTCTAAAACCTACGTTTAAAGAAAAATTATACAAATATTAAGACTGTCCTTTTTTTGTTTTTTGGAGGACAACGGGGACTGTAAACACAGGAAAAACATGACTAGATAAAATACCAGAGGAACTTAACTTTCATTGCTATTTTTCAAAGCCTGTATTAGTTTCTAATTAAACATACACTAGCTCAGAGTCTTGCTTTCATCACAAATCTATTGCCAATCATTCATG... | CTCTTACGGCAGTTACAACATCAGAAGGTAGCTTCATGAGTTCATTTCTCAAGATAATGCCCAATTTGTCTGCATTTTCAGCAAGGTTTTCTTCTTCTAAAACCTACGTTTAAAGAAAAATTATACAAATATTAAGACTGTCCTTTTTTTGTTTTTTGGAGGACAACGGGGACTGTAAACACAGGAAAAACATGACTAGATAAAATACCAGAGGAACTTAACTTTCATTGCTATTTTTCAAAGCCTGTATTAGTTTCTAATTAAACATACACTAGCTCAGAGTCTTGCTTTCATCACAAATCTATTGCCAATCATTCATG... | pathogenic | 169,149 |
Is the genetic change at chromosome 10, position 124403046, within gene OAT (ornithine aminotransferase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Ornithine_aminotransferase_deficiency'] | AAAATTATACAAATATTAAGACTGTCCTTTTTTTGTTTTTTGGAGGACAACGGGGACTGTAAACACAGGAAAAACATGACTAGATAAAATACCAGAGGAACTTAACTTTCATTGCTATTTTTCAAAGCCTGTATTAGTTTCTAATTAAACATACACTAGCTCAGAGTCTTGCTTTCATCACAAATCTATTGCCAATCATTCATGGCAAAATAAGGATTAAAGTTTATTTAATGCAACTCACATACTGTCATTAATTGAATACATCAATGGACGAAATGTAATTCCTAAACTGCAATAGTTTCTTCCCCCCTCACAAAGAT... | AAAATTATACAAATATTAAGACTGTCCTTTTTTTGTTTTTTGGAGGACAACGGGGACTGTAAACACAGGAAAAACATGACTAGATAAAATACCAGAGGAACTTAACTTTCATTGCTATTTTTCAAAGCCTGTATTAGTTTCTAATTAAACATACACTAGCTCAGAGTCTTGCTTTCATCACAAATCTATTGCCAATCATTCATGGCAAAATAAGGATTAAAGTTTATTTAATGCAACTCACATACTGTCATTAATTGAATACATCAATGGACGAAATGTAATTCCTAAACTGCAATAGTTTCTTCCCCCCTCACAAAGAT... | pathogenic | 169,154 |
A mutation at chromosome position 124403050 on chromosome 10 in gene OAT (ornithine aminotransferase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Ornithine_aminotransferase_deficiency'] | TTATACAAATATTAAGACTGTCCTTTTTTTGTTTTTTGGAGGACAACGGGGACTGTAAACACAGGAAAAACATGACTAGATAAAATACCAGAGGAACTTAACTTTCATTGCTATTTTTCAAAGCCTGTATTAGTTTCTAATTAAACATACACTAGCTCAGAGTCTTGCTTTCATCACAAATCTATTGCCAATCATTCATGGCAAAATAAGGATTAAAGTTTATTTAATGCAACTCACATACTGTCATTAATTGAATACATCAATGGACGAAATGTAATTCCTAAACTGCAATAGTTTCTTCCCCCCTCACAAAGATCTGT... | TTATACAAATATTAAGACTGTCCTTTTTTTGTTTTTTGGAGGACAACGGGGACTGTAAACACAGGAAAAACATGACTAGATAAAATACCAGAGGAACTTAACTTTCATTGCTATTTTTCAAAGCCTGTATTAGTTTCTAATTAAACATACACTAGCTCAGAGTCTTGCTTTCATCACAAATCTATTGCCAATCATTCATGGCAAAATAAGGATTAAAGTTTATTTAATGCAACTCACATACTGTCATTAATTGAATACATCAATGGACGAAATGTAATTCCTAAACTGCAATAGTTTCTTCCCCCCTCACAAAGATCTGT... | pathogenic | 169,155 |
Classify the chromosome 10 variant at position 124403789 affecting gene OAT as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Ornithine_aminotransferase_deficiency'] | GGCCACTCGGCAGCCTAGTGGATTGCCACCGTATGTGGACCCATGCTCCCCTGGCTTAATGGTCAGCATGATGTCATCATCACACAGCACTGCAGACACCTGAAAGACAGTCAATTCACCATGTCATTTCTCAGCACTAAGCATTCTACTAAGCATCCTTTTCCCCAGAGTCTCGCTGTCACCCAGGCTTGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCTGCCTCCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCACACATGTTATTTATTTAT... | GGCCACTCGGCAGCCTAGTGGATTGCCACCGTATGTGGACCCATGCTCCCCTGGCTTAATGGTCAGCATGATGTCATCATCACACAGCACTGCAGACACCTGAAAGACAGTCAATTCACCATGTCATTTCTCAGCACTAAGCATTCTACTAAGCATCCTTTTCCCCAGAGTCTCGCTGTCACCCAGGCTTGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCTGCCTCCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCACACATGTTATTTATTTAT... | pathogenic | 169,162 |
Mutation found at chromosome 10 position 124403846, gene OAT: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Ornithine_aminotransferase_deficiency'] | AATGGTCAGCATGATGTCATCATCACACAGCACTGCAGACACCTGAAAGACAGTCAATTCACCATGTCATTTCTCAGCACTAAGCATTCTACTAAGCATCCTTTTCCCCAGAGTCTCGCTGTCACCCAGGCTTGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCTGCCTCCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCACACATGTTATTTATTTATTTATTTATTTTGTAGTTTTAGTAGAGATATAGTTTCACCATGTTGGCCAGGCTGGTC... | AATGGTCAGCATGATGTCATCATCACACAGCACTGCAGACACCTGAAAGACAGTCAATTCACCATGTCATTTCTCAGCACTAAGCATTCTACTAAGCATCCTTTTCCCCAGAGTCTCGCTGTCACCCAGGCTTGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCTGCCTCCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACCACACCACACATGTTATTTATTTATTTATTTATTTTGTAGTTTTAGTAGAGATATAGTTTCACCATGTTGGCCAGGCTGGTC... | pathogenic | 169,164 |
Is the variant located on chromosome 10 at position 124405546, gene OAT (ornithine aminotransferase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Ornithine_aminotransferase_deficiency', 'Retinal_dystrophy'] | TCAGAGTGAAAGGCTCTTAGAGCAGCGAGGAAGGAAACGCTGTTAAGACCAGGTCTGCAGTTCTGCACAGGGCCCAGGACAAGGCCAGAGACAGGAAAAAGTCTGCTTCTGTGCAGGTTTCTAAGCACTAGGAAGTACTTAAGCTCTTAGAATGCCATCGCCCTCTAGTGGAAAGTAATTTAATCTTTGCATTTATCCAATCAGCAGAATTCAGAGAGGAGTTGGGGAGGAGCCCATTCAGCCTCATCACAAACAGCTAACTCGACATTCAGCCTTATCACAAACAGCTAACGTGACAACCTGGTGCCTGGTGCAGAGCT... | TCAGAGTGAAAGGCTCTTAGAGCAGCGAGGAAGGAAACGCTGTTAAGACCAGGTCTGCAGTTCTGCACAGGGCCCAGGACAAGGCCAGAGACAGGAAAAAGTCTGCTTCTGTGCAGGTTTCTAAGCACTAGGAAGTACTTAAGCTCTTAGAATGCCATCGCCCTCTAGTGGAAAGTAATTTAATCTTTGCATTTATCCAATCAGCAGAATTCAGAGAGGAGTTGGGGAGGAGCCCATTCAGCCTCATCACAAACAGCTAACTCGACATTCAGCCTTATCACAAACAGCTAACGTGACAACCTGGTGCCTGGTGCAGAGCT... | pathogenic | 169,176 |
A genetic variant at chromosome 10, position 124408545, affecting gene OAT (ornithine aminotransferase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Ornithine_aminotransferase_deficiency'] | AAAATAATAATAATAATAATAATAAAGATGTTGGGGAAGCCGGGTGCAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGAACACATGAGGTCAGGAGTTCAAGACCAGCCTGGTTAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGCAGAGGTTACAGTGAGCCAGACTGCAGACTAGGTGACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAA... | AAAATAATAATAATAATAATAATAAAGATGTTGGGGAAGCCGGGTGCAGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGAACACATGAGGTCAGGAGTTCAAGACCAGCCTGGTTAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACACAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGCAGAGGTTACAGTGAGCCAGACTGCAGACTAGGTGACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAA... | pathogenic | 169,179 |
Variant in gene OAT (ornithine aminotransferase), located at chromosome 10 position 124411956: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | ACAACTTTTGACAAGGATCTGAAGAAATTGGCACTCTCATACATTGCTAGTGGGAAAGTAAAAACAAGGTTGCCATGTCATGTAATATGAAACAGATTTTCAATAGTTCAAAAGAAGATATGTCTACAGTACTGGTACCAAATAAAATACAAGCAAATGACCAAAATGTGTGATACTCTTATATTGTCATTTTCTGGTACAAAGCTAAGTAATAAACTTTGGTTTTATTTGGTTAAGGCTGTTATTTATTCCAAATTGTAGATTAAATCACCATTTGGCAACTACCACCGTAATCATTTATTCAGGCAAGAATCATTAGT... | ACAACTTTTGACAAGGATCTGAAGAAATTGGCACTCTCATACATTGCTAGTGGGAAAGTAAAAACAAGGTTGCCATGTCATGTAATATGAAACAGATTTTCAATAGTTCAAAAGAAGATATGTCTACAGTACTGGTACCAAATAAAATACAAGCAAATGACCAAAATGTGTGATACTCTTATATTGTCATTTTCTGGTACAAAGCTAAGTAATAAACTTTGGTTTTATTTGGTTAAGGCTGTTATTTATTCCAAATTGTAGATTAAATCACCATTTGGCAACTACCACCGTAATCATTTATTCAGGCAAGAATCATTAGT... | benign | 169,183 |
Variant in gene OAT (ornithine aminotransferase), located at chromosome 10 position 124411973: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Ornithine_aminotransferase_deficiency'] | TCTGAAGAAATTGGCACTCTCATACATTGCTAGTGGGAAAGTAAAAACAAGGTTGCCATGTCATGTAATATGAAACAGATTTTCAATAGTTCAAAAGAAGATATGTCTACAGTACTGGTACCAAATAAAATACAAGCAAATGACCAAAATGTGTGATACTCTTATATTGTCATTTTCTGGTACAAAGCTAAGTAATAAACTTTGGTTTTATTTGGTTAAGGCTGTTATTTATTCCAAATTGTAGATTAAATCACCATTTGGCAACTACCACCGTAATCATTTATTCAGGCAAGAATCATTAGTGGATGCTGAAATTGTGA... | TCTGAAGAAATTGGCACTCTCATACATTGCTAGTGGGAAAGTAAAAACAAGGTTGCCATGTCATGTAATATGAAACAGATTTTCAATAGTTCAAAAGAAGATATGTCTACAGTACTGGTACCAAATAAAATACAAGCAAATGACCAAAATGTGTGATACTCTTATATTGTCATTTTCTGGTACAAAGCTAAGTAATAAACTTTGGTTTTATTTGGTTAAGGCTGTTATTTATTCCAAATTGTAGATTAAATCACCATTTGGCAACTACCACCGTAATCATTTATTCAGGCAAGAATCATTAGTGGATGCTGAAATTGTGA... | pathogenic | 169,184 |
The chromosome 10, position 124411978 genetic variant in gene OAT (ornithine aminotransferase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Ornithine_aminotransferase_deficiency'] | AGAAATTGGCACTCTCATACATTGCTAGTGGGAAAGTAAAAACAAGGTTGCCATGTCATGTAATATGAAACAGATTTTCAATAGTTCAAAAGAAGATATGTCTACAGTACTGGTACCAAATAAAATACAAGCAAATGACCAAAATGTGTGATACTCTTATATTGTCATTTTCTGGTACAAAGCTAAGTAATAAACTTTGGTTTTATTTGGTTAAGGCTGTTATTTATTCCAAATTGTAGATTAAATCACCATTTGGCAACTACCACCGTAATCATTTATTCAGGCAAGAATCATTAGTGGATGCTGAAATTGTGAGTAAA... | AGAAATTGGCACTCTCATACATTGCTAGTGGGAAAGTAAAAACAAGGTTGCCATGTCATGTAATATGAAACAGATTTTCAATAGTTCAAAAGAAGATATGTCTACAGTACTGGTACCAAATAAAATACAAGCAAATGACCAAAATGTGTGATACTCTTATATTGTCATTTTCTGGTACAAAGCTAAGTAATAAACTTTGGTTTTATTTGGTTAAGGCTGTTATTTATTCCAAATTGTAGATTAAATCACCATTTGGCAACTACCACCGTAATCATTTATTCAGGCAAGAATCATTAGTGGATGCTGAAATTGTGAGTAAA... | pathogenic | 169,185 |
Gene mutation in OAT (ornithine aminotransferase) at chromosome 10, position 124411982—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Ornithine_aminotransferase_deficiency'] | ATTGGCACTCTCATACATTGCTAGTGGGAAAGTAAAAACAAGGTTGCCATGTCATGTAATATGAAACAGATTTTCAATAGTTCAAAAGAAGATATGTCTACAGTACTGGTACCAAATAAAATACAAGCAAATGACCAAAATGTGTGATACTCTTATATTGTCATTTTCTGGTACAAAGCTAAGTAATAAACTTTGGTTTTATTTGGTTAAGGCTGTTATTTATTCCAAATTGTAGATTAAATCACCATTTGGCAACTACCACCGTAATCATTTATTCAGGCAAGAATCATTAGTGGATGCTGAAATTGTGAGTAAAAGTT... | ATTGGCACTCTCATACATTGCTAGTGGGAAAGTAAAAACAAGGTTGCCATGTCATGTAATATGAAACAGATTTTCAATAGTTCAAAAGAAGATATGTCTACAGTACTGGTACCAAATAAAATACAAGCAAATGACCAAAATGTGTGATACTCTTATATTGTCATTTTCTGGTACAAAGCTAAGTAATAAACTTTGGTTTTATTTGGTTAAGGCTGTTATTTATTCCAAATTGTAGATTAAATCACCATTTGGCAACTACCACCGTAATCATTTATTCAGGCAAGAATCATTAGTGGATGCTGAAATTGTGAGTAAAAGTT... | pathogenic | 169,186 |
Is the genetic mutation found on chromosome 10 at position 124412012, within the gene OAT (ornithine aminotransferase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Ornithine_aminotransferase_deficiency'] | AGTAAAAACAAGGTTGCCATGTCATGTAATATGAAACAGATTTTCAATAGTTCAAAAGAAGATATGTCTACAGTACTGGTACCAAATAAAATACAAGCAAATGACCAAAATGTGTGATACTCTTATATTGTCATTTTCTGGTACAAAGCTAAGTAATAAACTTTGGTTTTATTTGGTTAAGGCTGTTATTTATTCCAAATTGTAGATTAAATCACCATTTGGCAACTACCACCGTAATCATTTATTCAGGCAAGAATCATTAGTGGATGCTGAAATTGTGAGTAAAAGTTCATGAGTAACTGGATATTTACAGAGTTTTA... | AGTAAAAACAAGGTTGCCATGTCATGTAATATGAAACAGATTTTCAATAGTTCAAAAGAAGATATGTCTACAGTACTGGTACCAAATAAAATACAAGCAAATGACCAAAATGTGTGATACTCTTATATTGTCATTTTCTGGTACAAAGCTAAGTAATAAACTTTGGTTTTATTTGGTTAAGGCTGTTATTTATTCCAAATTGTAGATTAAATCACCATTTGGCAACTACCACCGTAATCATTTATTCAGGCAAGAATCATTAGTGGATGCTGAAATTGTGAGTAAAAGTTCATGAGTAACTGGATATTTACAGAGTTTTA... | pathogenic | 169,187 |
Is chromosome 10, position 124412074, gene OAT (ornithine aminotransferase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Ornithine_aminotransferase_deficiency'] | TATGTCTACAGTACTGGTACCAAATAAAATACAAGCAAATGACCAAAATGTGTGATACTCTTATATTGTCATTTTCTGGTACAAAGCTAAGTAATAAACTTTGGTTTTATTTGGTTAAGGCTGTTATTTATTCCAAATTGTAGATTAAATCACCATTTGGCAACTACCACCGTAATCATTTATTCAGGCAAGAATCATTAGTGGATGCTGAAATTGTGAGTAAAAGTTCATGAGTAACTGGATATTTACAGAGTTTTACACTCTGTCCCCACAAGATACTTAATACAAAGGGAAAGAAGACCAAGACAACCAAGGATTGA... | TATGTCTACAGTACTGGTACCAAATAAAATACAAGCAAATGACCAAAATGTGTGATACTCTTATATTGTCATTTTCTGGTACAAAGCTAAGTAATAAACTTTGGTTTTATTTGGTTAAGGCTGTTATTTATTCCAAATTGTAGATTAAATCACCATTTGGCAACTACCACCGTAATCATTTATTCAGGCAAGAATCATTAGTGGATGCTGAAATTGTGAGTAAAAGTTCATGAGTAACTGGATATTTACAGAGTTTTACACTCTGTCCCCACAAGATACTTAATACAAAGGGAAAGAAGACCAAGACAACCAAGGATTGA... | pathogenic | 169,189 |
Gene MMP21 (matrix metallopeptidase 21) variant at chromosome position 125774287 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Heterotaxy,_visceral,_7,_autosomal', 'MMP21-related_disorder'] | TCCTGTCTGACCAGTCCAACTCAAAGGCAGGCTCCTGGGGAATGTAATTTGGTTGCATTATGGATCCCGTCCTGTAGGTGTGAGGCAAGCCCAGGACATGGCCAATTTCATGGACGGCCACCTAGAAGGGGACACACACCATGGGTGCTGGGTGAAGCCTGGGCGATGGATCCCTGCATAACAGACGCAGGCCTGTGCTTCGAGAGGAGCGTTGCTTGTGAAGAGGGGAGCACCGGTGGAACTGGGGAGCCATTCCACGGATTCACCTCCTCAGAGGTTGCGGACACTACATGAGAAAAGCTTGGACTTTTTGGACGTCA... | TCCTGTCTGACCAGTCCAACTCAAAGGCAGGCTCCTGGGGAATGTAATTTGGTTGCATTATGGATCCCGTCCTGTAGGTGTGAGGCAAGCCCAGGACATGGCCAATTTCATGGACGGCCACCTAGAAGGGGACACACACCATGGGTGCTGGGTGAAGCCTGGGCGATGGATCCCTGCATAACAGACGCAGGCCTGTGCTTCGAGAGGAGCGTTGCTTGTGAAGAGGGGAGCACCGGTGGAACTGGGGAGCCATTCCACGGATTCACCTCCTCAGAGGTTGCGGACACTACATGAGAAAAGCTTGGACTTTTTGGACGTCA... | pathogenic | 169,212 |
Located at chromosome 10 position 129840963, the variant affecting gene EBF3 (EBF transcription factor 3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hypotonia,_ataxia,_and_delayed_development_syndrome', 'Inborn_genetic_diseases'] | ACCCCGTGTCACGGGCAGGGCCGCGGCACCTCACCACCTGCCTCTGCAACGACCCTGGTGTGGTGCCCGCTGATGGCACGCAGGCCAGTCGGCGGCACTTCGGGGGCCTGGGCGTCCCTTCATACGCTAACGGATGTTGTGAAGACAATGATTTCAAATCACTGATACCTTTCCAGTTCCTTTTTTGAGCATTAGTTCATCAAAGTGAAATATGCCACCGACTTCACAAAAGGGCCAGTTTGTCTTCTCCGCGGCTACGTCCTCAGCACCCAGCAGAGAGCCTGGTACATAGTAGGTGCTCAGTAAATACTGGTTGAATG... | ACCCCGTGTCACGGGCAGGGCCGCGGCACCTCACCACCTGCCTCTGCAACGACCCTGGTGTGGTGCCCGCTGATGGCACGCAGGCCAGTCGGCGGCACTTCGGGGGCCTGGGCGTCCCTTCATACGCTAACGGATGTTGTGAAGACAATGATTTCAAATCACTGATACCTTTCCAGTTCCTTTTTTGAGCATTAGTTCATCAAAGTGAAATATGCCACCGACTTCACAAAAGGGCCAGTTTGTCTTCTCCGCGGCTACGTCCTCAGCACCCAGCAGAGAGCCTGGTACATAGTAGGTGCTCAGTAAATACTGGTTGAATG... | pathogenic | 169,292 |
Evaluate this variant at chromosome 10, position 129867860, gene EBF3 (EBF transcription factor 3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hypotonia,_ataxia,_and_delayed_development_syndrome'] | GTCACCCGCTCTCTGGACAGAGGAGAGGACTGTGTCCCATTGGGCGTCCTTCAGGTGGTGATGGCAGGAGTTGAAGCCCCATCCTCTAGTCCAGGTTCCTGCTGTGGTCCTCATGGCCACCCCAGGACACCAGGCCACAGTCACCCAGCCACTGCACATGCAGGTCAAGCCCACAGATAGTAAGTATTCATCTTGCTCACTGTCACTCGGTTCCAGCAGGCACTGTCCATCATTAAAAACATCTCTCAAATGTCACAGCCTTTGGAGTTGGCTAAGATTAGAAATCAAAATGCAAACATGCCTTAAGTTGAAGTGAGTTG... | GTCACCCGCTCTCTGGACAGAGGAGAGGACTGTGTCCCATTGGGCGTCCTTCAGGTGGTGATGGCAGGAGTTGAAGCCCCATCCTCTAGTCCAGGTTCCTGCTGTGGTCCTCATGGCCACCCCAGGACACCAGGCCACAGTCACCCAGCCACTGCACATGCAGGTCAAGCCCACAGATAGTAAGTATTCATCTTGCTCACTGTCACTCGGTTCCAGCAGGCACTGTCCATCATTAAAAACATCTCTCAAATGTCACAGCCTTTGGAGTTGGCTAAGATTAGAAATCAAAATGCAAACATGCCTTAAGTTGAAGTGAGTTG... | pathogenic | 169,296 |
Evaluate if the mutation on chromosome 10 at position 129962949 in EBF3 (EBF transcription factor 3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hypotonia,_ataxia,_and_delayed_development_syndrome'] | AGAGGCTTCTCTGAATCGAGTGAAATAATTACAGAAGGGCACACCGCCTCTGTCTTTGTCAGAAAGACCTTAGTTTACCTGTCAGATCTGTTTTACTCTAAGAGAAAAGCACACTGGTTTACCACTGCAGGCATTAAAATCTAACACCCTTGCTACCTAGGTAAGGACAAACTTTTTAAAGGGGAAATAAAATGTGCAAACTAATTGCATGCAGAGAGTGGGAGGCATATGTGCTGGGCTGCAGGAAGCCCCAACGAGCTCTCCTTTACTTGGCTCACAATTCTTAAAGTTAGCATCAAAACCGAAGAAGCCACTTTCAT... | AGAGGCTTCTCTGAATCGAGTGAAATAATTACAGAAGGGCACACCGCCTCTGTCTTTGTCAGAAAGACCTTAGTTTACCTGTCAGATCTGTTTTACTCTAAGAGAAAAGCACACTGGTTTACCACTGCAGGCATTAAAATCTAACACCCTTGCTACCTAGGTAAGGACAAACTTTTTAAAGGGGAAATAAAATGTGCAAACTAATTGCATGCAGAGAGTGGGAGGCATATGTGCTGGGCTGCAGGAAGCCCCAACGAGCTCTCCTTTACTTGGCTCACAATTCTTAAAGTTAGCATCAAAACCGAAGAAGCCACTTTCAT... | pathogenic | 169,309 |
Chromosome 10, position 132785411, gene NKX6-2 (NK6 homeobox 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GCTGTCCGCGGTTCAACACGGAGTCCGCCCCGCGGGTTTCAGCTGTTGGTCGTTCTGAGGGGCCTTTGGAAGTGACCGGTCTGGTTCCTAAGCAATAAAATTGACCGTGGTGAAAATAGTCCCGTGTTGCTTTTTCTTCCTTTCCCTTCTCCTGCCACCTTTGAAATGCTAACTCAGGGGAGCGGCCTCCTGTATAGCCTGTTATTTGAGATCAAGCTCATTAGAAATCCTGGAATTTCACTGTATCACACGCTGTCACAAAACACTAAGCCGTTCATTGAGAGGAGAAACACAGCCTTTTGGACTTTCTACTGTAATAA... | GCTGTCCGCGGTTCAACACGGAGTCCGCCCCGCGGGTTTCAGCTGTTGGTCGTTCTGAGGGGCCTTTGGAAGTGACCGGTCTGGTTCCTAAGCAATAAAATTGACCGTGGTGAAAATAGTCCCGTGTTGCTTTTTCTTCCTTTCCCTTCTCCTGCCACCTTTGAAATGCTAACTCAGGGGAGCGGCCTCCTGTATAGCCTGTTATTTGAGATCAAGCTCATTAGAAATCCTGGAATTTCACTGTATCACACGCTGTCACAAAACACTAAGCCGTTCATTGAGAGGAGAAACACAGCCTTTTGGACTTTCTACTGTAATAA... | benign | 169,327 |
Considering the variant on chromosome 10, location 133369947, involving gene ECHS1 (enoyl-CoA hydratase, short chain 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Inborn_genetic_diseases'] | TCACGTGACTTGCTTCACCTTGTCAATCACTTAGAGGATTCACCGTCCTCACCCTGCCCCCTCGTCCTGTATGCAATAAATATCAGTGCGCCCAGCCATTCGGGGCCACTACCGGTCTCCGCCTCTTGATGGTATTGGTCCCCCAGGCCCAGCTGTTTTCTCTTTATCTCTTTGTCTTGTGTCTTTATTTCTTACAATCTCTCGTCTCCGCACATGGGGAGAACACCTGCTAAGCCCCGTAGGGCTGGACACTACACTCCCCCAACACCCTGACATTAGATCAAGGTGATGACTCTGTAGGGCCCTCCCCAGCCTCTGTG... | TCACGTGACTTGCTTCACCTTGTCAATCACTTAGAGGATTCACCGTCCTCACCCTGCCCCCTCGTCCTGTATGCAATAAATATCAGTGCGCCCAGCCATTCGGGGCCACTACCGGTCTCCGCCTCTTGATGGTATTGGTCCCCCAGGCCCAGCTGTTTTCTCTTTATCTCTTTGTCTTGTGTCTTTATTTCTTACAATCTCTCGTCTCCGCACATGGGGAGAACACCTGCTAAGCCCCGTAGGGCTGGACACTACACTCCCCCAACACCCTGACATTAGATCAAGGTGATGACTCTGTAGGGCCCTCCCCAGCCTCTGTG... | pathogenic | 169,393 |
Mutation at chromosome 10, position 133370721, within ECHS1 (enoyl-CoA hydratase, short chain 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Leigh_syndrome', 'Mitochondrial_short-chain_Enoyl-Coa_hydratase_1_deficiency'] | GTTACCCAGGACCAGCCTCTCCCAACACCATCAGATGTGGGCACAGTCACAGTCCCGGGACTCTAAGGCCCCCCCCAAGCTCTGTCACAACCACTCTAGCCTCCGTGGCTGTCCACAGAGGGACCACTGACCAGCCATGGGGCTGTCCATCCAGGGCCTCTGGTCAGATATGAGCTGTGGGCCCTGAGACACAGGCAGATTTTGAGTAATTACCTAAGGCATCTATGCCAGAGACAGTGTCACTCTTTACCTGGGATGGTTCCTATTAAGATCTCCGGCTGTGCAAACTGGGCCTTCTCACCGGCATAGATGATATCACA... | GTTACCCAGGACCAGCCTCTCCCAACACCATCAGATGTGGGCACAGTCACAGTCCCGGGACTCTAAGGCCCCCCCCAAGCTCTGTCACAACCACTCTAGCCTCCGTGGCTGTCCACAGAGGGACCACTGACCAGCCATGGGGCTGTCCATCCAGGGCCTCTGGTCAGATATGAGCTGTGGGCCCTGAGACACAGGCAGATTTTGAGTAATTACCTAAGGCATCTATGCCAGAGACAGTGTCACTCTTTACCTGGGATGGTTCCTATTAAGATCTCCGGCTGTGCAAACTGGGCCTTCTCACCGGCATAGATGATATCACA... | pathogenic | 169,405 |
Is the variant located on chromosome 11 at position 533301, gene HRAS, benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | AGCCAGCGGCATGCCCTGCTAGCTCTCCCCCAACCTCAGGGATAGGGAACCCTGACAGGGCACAAGTCCCCGTCCCAGAGGGGCCTGGCCCAGCCTCAACCCGGGCCCTGGGAGGGGAGGGGCACCAGGGGCGCTGTGGGCCCCCAGCAGAAGCCAGGATGACCACACAGGGGACTGAGCTGTCTGTGGCTGTGGCCAGACCTAGAACTTGGCCCAAGGCAGGGCAAGCCCCTTGGAGCAGAGTGGGTGGCAGAGCCTGTGTATACCCAGCAAGGCTGAGCCAGTGACACTACCAGGCTCCAAGAGCAACCAGCCATGAG... | AGCCAGCGGCATGCCCTGCTAGCTCTCCCCCAACCTCAGGGATAGGGAACCCTGACAGGGCACAAGTCCCCGTCCCAGAGGGGCCTGGCCCAGCCTCAACCCGGGCCCTGGGAGGGGAGGGGCACCAGGGGCGCTGTGGGCCCCCAGCAGAAGCCAGGATGACCACACAGGGGACTGAGCTGTCTGTGGCTGTGGCCAGACCTAGAACTTGGCCCAAGGCAGGGCAAGCCCCTTGGAGCAGAGTGGGTGGCAGAGCCTGTGTATACCCAGCAAGGCTGAGCCAGTGACACTACCAGGCTCCAAGAGCAACCAGCCATGAG... | benign | 169,483 |
The mutation impacting HRAS on chromosome 11 at position 533311: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Costello_syndrome'] | ATGCCCTGCTAGCTCTCCCCCAACCTCAGGGATAGGGAACCCTGACAGGGCACAAGTCCCCGTCCCAGAGGGGCCTGGCCCAGCCTCAACCCGGGCCCTGGGAGGGGAGGGGCACCAGGGGCGCTGTGGGCCCCCAGCAGAAGCCAGGATGACCACACAGGGGACTGAGCTGTCTGTGGCTGTGGCCAGACCTAGAACTTGGCCCAAGGCAGGGCAAGCCCCTTGGAGCAGAGTGGGTGGCAGAGCCTGTGTATACCCAGCAAGGCTGAGCCAGTGACACTACCAGGCTCCAAGAGCAACCAGCCATGAGGCAGGCGTGG... | ATGCCCTGCTAGCTCTCCCCCAACCTCAGGGATAGGGAACCCTGACAGGGCACAAGTCCCCGTCCCAGAGGGGCCTGGCCCAGCCTCAACCCGGGCCCTGGGAGGGGAGGGGCACCAGGGGCGCTGTGGGCCCCCAGCAGAAGCCAGGATGACCACACAGGGGACTGAGCTGTCTGTGGCTGTGGCCAGACCTAGAACTTGGCCCAAGGCAGGGCAAGCCCCTTGGAGCAGAGTGGGTGGCAGAGCCTGTGTATACCCAGCAAGGCTGAGCCAGTGACACTACCAGGCTCCAAGAGCAACCAGCCATGAGGCAGGCGTGG... | pathogenic | 169,485 |
Clinical significance of chromosome 11, position 533838, gene HRAS: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['HRAS-related_disorder', 'Vascular_malformation'] | CCGAAGAAAACTGGGCATGTGAAGGCCCAGGAGGCGGGGTCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACC... | CCGAAGAAAACTGGGCATGTGAAGGCCCAGGAGGCGGGGTCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACC... | pathogenic | 169,523 |
Does the chromosome 11 mutation at position 534287 within gene HRAS classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Costello_syndrome'] | AGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGC... | AGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGC... | pathogenic | 169,564 |
Evaluate if the mutation on chromosome 11 at position 534287 in HRAS is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Costello_syndrome'] | AGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGC... | AGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGC... | pathogenic | 169,565 |
Clinical significance of chromosome 11, position 653953, gene DEAF1 (DEAF1 transcription factor): benign or pathogenic? Name the disease(s) if pathogenic. | benign | AGATAATTCAACAGTAATAGCTGGAGAGTTCAACACTTCACTCTAAATAAGGGGTAGAACAAATAGAGAAAATCAGTGAGAATATGAAAGAGTTGAACAATACTATCAACCAACCTAACTGATATCTAATACTCCACCCAACAGAGCAGAATATACAAGCAACACTCTCCATGATAAGACCATACGCTAGGCCCTAACACAAATCTCAATAAATTTAAAGGTACTGAAAAACACTAAGTATGTTCTTGAACCACAATGTAATTAAAGTAGAAATTAATTATAAAGGTACATTTAAGAAATCCAGAAATATTTGAAATTAG... | AGATAATTCAACAGTAATAGCTGGAGAGTTCAACACTTCACTCTAAATAAGGGGTAGAACAAATAGAGAAAATCAGTGAGAATATGAAAGAGTTGAACAATACTATCAACCAACCTAACTGATATCTAATACTCCACCCAACAGAGCAGAATATACAAGCAACACTCTCCATGATAAGACCATACGCTAGGCCCTAACACAAATCTCAATAAATTTAAAGGTACTGAAAAACACTAAGTATGTTCTTGAACCACAATGTAATTAAAGTAGAAATTAATTATAAAGGTACATTTAAGAAATCCAGAAATATTTGAAATTAG... | benign | 169,670 |
Mutation found at chromosome 11 position 679708, gene DEAF1 (DEAF1 transcription factor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Intellectual_disability-epilepsy-extrapyramidal_syndrome'] | AAAGTATAATGATGGCTGGGCACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAGCATGGTGAAACCCCATCTCTACTAAAAATACAATAACAAAAAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCTGGCAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGACACTCTGTCTCAAAAAAAAAAACAAAAA... | AAAGTATAATGATGGCTGGGCACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAGCATGGTGAAACCCCATCTCTACTAAAAATACAATAACAAAAAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCTGGCAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGACACTCTGTCTCAAAAAAAAAAACAAAAA... | pathogenic | 169,689 |
Determine if the mutation at chromosome 11, position 681033 in gene DEAF1 (DEAF1 transcription factor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['DEAF1-related_disorder', 'Intellectual_disability,_autosomal_dominant_24'] | AGGATTGGGGCTATATCAGGTGAAATAAAATAGATTATAAAAATCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCGCATCACGAGGTCAGGAGATAGAGACCATCCTGGCTAACATGGTGAAACGCTGTCTCTACTAAAAATACCAAAAAAAAATTAGCCGGGCATGGTGGCAGGCGCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGTGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCGAGATCATGCCACTGCCCTCCAGCCTGGGGGATGGAGCGAG... | AGGATTGGGGCTATATCAGGTGAAATAAAATAGATTATAAAAATCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCGCATCACGAGGTCAGGAGATAGAGACCATCCTGGCTAACATGGTGAAACGCTGTCTCTACTAAAAATACCAAAAAAAAATTAGCCGGGCATGGTGGCAGGCGCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGTGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCGAGATCATGCCACTGCCCTCCAGCCTGGGGGATGGAGCGAG... | pathogenic | 169,696 |
Determine whether the variant at chromosome 11, position 695012, in gene DEAF1 (DEAF1 transcription factor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Intellectual_disability,_autosomal_dominant_24'] | GGCCACAGTGAGTGCTCAACGCCAGGCCCATGGCAGCCCTGGGAGCAGCCGCCCAAAGCCTCCTCAGGCGGCAGCGTGTCCTGCTGAGTTACTTAAACCTGGAAACCACTTGACGTCAGCTGTTCGTAATTTTTAAAAAGTATTAAAGTGCTTTTACCACATCAAAACACAACTACCATATTTTTCAGAAGAAAACACACGTCAGCACATTTCTCTGACATCATGATGAACAGCATCATTTTTCTTTTATGCATTCAGAAAAATACGTGCAAAAATGACAAAAACCTGAAATCAACCTCATGGCTCCAAATCCCAACGTC... | GGCCACAGTGAGTGCTCAACGCCAGGCCCATGGCAGCCCTGGGAGCAGCCGCCCAAAGCCTCCTCAGGCGGCAGCGTGTCCTGCTGAGTTACTTAAACCTGGAAACCACTTGACGTCAGCTGTTCGTAATTTTTAAAAAGTATTAAAGTGCTTTTACCACATCAAAACACAACTACCATATTTTTCAGAAGAAAACACACGTCAGCACATTTCTCTGACATCATGATGAACAGCATCATTTTTCTTTTATGCATTCAGAAAAATACGTGCAAAAATGACAAAAACCTGAAATCAACCTCATGGCTCCAAATCCCAACGTC... | pathogenic | 169,737 |
Does the genetic variant at chromosome 11, position 794968, impacting gene SLC25A22 (solute carrier family 25 member 22), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GTCACGATCACCTGGCAGGTGCCAGCCCCACAGCCCGCCAGCATCTCTTTAAGCAGGGTCAGCTTCTGCCTGTGGTAGGGGCGGGGCCGCAGTAAGTGGGAAGAGACAGGTCTACCTGCCACCCTCGGGGCTGCCCACCATGCCTGGGCGCAGAGGATGGTGGGAGCCGTGGAGGCAGATGCAGGCCTGTGGGGGTACAGCCCCCAGCCTCCGCCACTGCAGCAGCAGGCAGGGAGGAGACCGATGGACAGACGGCCCCACAGGCAGGGGCCTGGGGAGGGCAGTGGGGCTGTCTGCGACAAAGGAAAATGGGAAATTGG... | GTCACGATCACCTGGCAGGTGCCAGCCCCACAGCCCGCCAGCATCTCTTTAAGCAGGGTCAGCTTCTGCCTGTGGTAGGGGCGGGGCCGCAGTAAGTGGGAAGAGACAGGTCTACCTGCCACCCTCGGGGCTGCCCACCATGCCTGGGCGCAGAGGATGGTGGGAGCCGTGGAGGCAGATGCAGGCCTGTGGGGGTACAGCCCCCAGCCTCCGCCACTGCAGCAGCAGGCAGGGAGGAGACCGATGGACAGACGGCCCCACAGGCAGGGGCCTGGGGAGGGCAGTGGGGCTGTCTGCGACAAAGGAAAATGGGAAATTGG... | benign | 169,854 |
Variant at chromosome 11, position 822522, gene PNPLA2 (patatin like domain 2, triacylglycerol lipase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Inborn_genetic_diseases', 'Neutral_lipid_storage_myopathy'] | TGCGGCCCACCGCGTTTGCACACTTCATGGGTGAGGGTGCTTCTGGGCTCTGGTGCCTGGGTCAGGAGTGGATGGGTCTCTGTGTGCTGGGCTGGCCTCGGCTCGCACCATCGGCTGCCATGAGGGAGTGATGTTTACAGCACACGACTTCAGGAGCCTGTGAGGACACCCAAGATGACAGGGGCACTCTGCTCAGCAGGAGCCTGTCCGGGGCTCACCCCTGCCCTCTTCCTCTGAACTTTGTCCTGGGAGGGAGGGGGCTGGACCACAGAAGTGAACCTCTCAGGTCCCAATAACTAGAGCTATTATTGGGAACAGCC... | TGCGGCCCACCGCGTTTGCACACTTCATGGGTGAGGGTGCTTCTGGGCTCTGGTGCCTGGGTCAGGAGTGGATGGGTCTCTGTGTGCTGGGCTGGCCTCGGCTCGCACCATCGGCTGCCATGAGGGAGTGATGTTTACAGCACACGACTTCAGGAGCCTGTGAGGACACCCAAGATGACAGGGGCACTCTGCTCAGCAGGAGCCTGTCCGGGGCTCACCCCTGCCCTCTTCCTCTGAACTTTGTCCTGGGAGGGAGGGGGCTGGACCACAGAAGTGAACCTCTCAGGTCCCAATAACTAGAGCTATTATTGGGAACAGCC... | pathogenic | 169,884 |
A genetic variant on chromosome 11, position 823727, affects the gene PNPLA2 (patatin like domain 2, triacylglycerol lipase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Neutral_lipid_storage_myopathy'] | TCCTGGGCCCCCTGCACCCCTCCTTCAACCTGGTAAAGATCATCCGCAGTTTCCTGCTGAAGGTCCTGCCTGCTGATAGCCATGAGCATGCCAGTGGGCGCCTGGGCATCTCCCTGACCCGCGTGTCAGACGGCGAGAATGTCATTATATCCCACTTCAACTCCAAGGACGAGCTCATCCAGGTGGGGCCTGGTGGAGCCATGCTGGGTGGCGGTGGGGGGGGCAGTGGGAACCTCAAGGCCTCTGCTCATTCTCTCCCACTCTGTCCCTGCCCTGAAGGCCAATGTCTGCAGCGGTTTCATCCCCGTGTACTGTGGGCT... | TCCTGGGCCCCCTGCACCCCTCCTTCAACCTGGTAAAGATCATCCGCAGTTTCCTGCTGAAGGTCCTGCCTGCTGATAGCCATGAGCATGCCAGTGGGCGCCTGGGCATCTCCCTGACCCGCGTGTCAGACGGCGAGAATGTCATTATATCCCACTTCAACTCCAAGGACGAGCTCATCCAGGTGGGGCCTGGTGGAGCCATGCTGGGTGGCGGTGGGGGGGGCAGTGGGAACCTCAAGGCCTCTGCTCATTCTCTCCCACTCTGTCCCTGCCCTGAAGGCCAATGTCTGCAGCGGTTTCATCCCCGTGTACTGTGGGCT... | pathogenic | 169,892 |
Gene PNPLA2 (patatin like domain 2, triacylglycerol lipase) variant at chromosome position 823728 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Neutral_lipid_storage_myopathy'] | CCTGGGCCCCCTGCACCCCTCCTTCAACCTGGTAAAGATCATCCGCAGTTTCCTGCTGAAGGTCCTGCCTGCTGATAGCCATGAGCATGCCAGTGGGCGCCTGGGCATCTCCCTGACCCGCGTGTCAGACGGCGAGAATGTCATTATATCCCACTTCAACTCCAAGGACGAGCTCATCCAGGTGGGGCCTGGTGGAGCCATGCTGGGTGGCGGTGGGGGGGGCAGTGGGAACCTCAAGGCCTCTGCTCATTCTCTCCCACTCTGTCCCTGCCCTGAAGGCCAATGTCTGCAGCGGTTTCATCCCCGTGTACTGTGGGCTC... | CCTGGGCCCCCTGCACCCCTCCTTCAACCTGGTAAAGATCATCCGCAGTTTCCTGCTGAAGGTCCTGCCTGCTGATAGCCATGAGCATGCCAGTGGGCGCCTGGGCATCTCCCTGACCCGCGTGTCAGACGGCGAGAATGTCATTATATCCCACTTCAACTCCAAGGACGAGCTCATCCAGGTGGGGCCTGGTGGAGCCATGCTGGGTGGCGGTGGGGGGGGCAGTGGGAACCTCAAGGCCTCTGCTCATTCTCTCCCACTCTGTCCCTGCCCTGAAGGCCAATGTCTGCAGCGGTTTCATCCCCGTGTACTGTGGGCTC... | pathogenic | 169,893 |
Clinical classification of chromosome 11, position 824119, gene PNPLA2 (patatin like domain 2, triacylglycerol lipase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Neutral_lipid_storage_myopathy'] | TGAGGGACAGAGGAGGAGGCCGCCTAGAGCCATCCTTCAGGCCCTTGCTCTGCCACCGCCTGTTACCCACTTCCCCTGTGTTACTCAAGAAACAGCTGTGGCAACGCACGCTTCCTGGCCCCCCATCCCTTCCTCCGTCCCTGCCCTCCCCCGTCTACCATCTGCTCAGTGCCCAGGCTGGCCCACAGCCAGTGCCCAGTGGGTAAAACGCTCAAATGAGGTAGCCACTGAATGGGGCCCTTGGTGGCCGGGTGGGGTGGCTGGGGTGGGTGGCCAGTGCAGCCACAGGCCCTCACATACGGTCCTGTCTGTGTGTCCCG... | TGAGGGACAGAGGAGGAGGCCGCCTAGAGCCATCCTTCAGGCCCTTGCTCTGCCACCGCCTGTTACCCACTTCCCCTGTGTTACTCAAGAAACAGCTGTGGCAACGCACGCTTCCTGGCCCCCCATCCCTTCCTCCGTCCCTGCCCTCCCCCGTCTACCATCTGCTCAGTGCCCAGGCTGGCCCACAGCCAGTGCCCAGTGGGTAAAACGCTCAAATGAGGTAGCCACTGAATGGGGCCCTTGGTGGCCGGGTGGGGTGGCTGGGGTGGGTGGCCAGTGCAGCCACAGGCCCTCACATACGGTCCTGTCTGTGTGTCCCG... | pathogenic | 169,902 |
Variant in PNPLA2 (patatin like domain 2, triacylglycerol lipase), chromosome 11, position 824127—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Neutral_lipid_storage_myopathy'] | AGAGGAGGAGGCCGCCTAGAGCCATCCTTCAGGCCCTTGCTCTGCCACCGCCTGTTACCCACTTCCCCTGTGTTACTCAAGAAACAGCTGTGGCAACGCACGCTTCCTGGCCCCCCATCCCTTCCTCCGTCCCTGCCCTCCCCCGTCTACCATCTGCTCAGTGCCCAGGCTGGCCCACAGCCAGTGCCCAGTGGGTAAAACGCTCAAATGAGGTAGCCACTGAATGGGGCCCTTGGTGGCCGGGTGGGGTGGCTGGGGTGGGTGGCCAGTGCAGCCACAGGCCCTCACATACGGTCCTGTCTGTGTGTCCCGTGGAAGCG... | AGAGGAGGAGGCCGCCTAGAGCCATCCTTCAGGCCCTTGCTCTGCCACCGCCTGTTACCCACTTCCCCTGTGTTACTCAAGAAACAGCTGTGGCAACGCACGCTTCCTGGCCCCCCATCCCTTCCTCCGTCCCTGCCCTCCCCCGTCTACCATCTGCTCAGTGCCCAGGCTGGCCCACAGCCAGTGCCCAGTGGGTAAAACGCTCAAATGAGGTAGCCACTGAATGGGGCCCTTGGTGGCCGGGTGGGGTGGCTGGGGTGGGTGGCCAGTGCAGCCACAGGCCCTCACATACGGTCCTGTCTGTGTGTCCCGTGGAAGCG... | pathogenic | 169,903 |
Does the variant on chromosome 11 at location 824805 affecting gene PNPLA2 (patatin like domain 2, triacylglycerol lipase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | AGATGGCCCATCCAACCTCTCTGTCTAGCTGCTCTGTCCAGGCTCCCTGTCCAGTCTCTCTCTCTTTTTTTTTTTTTTTTTTGTTTGAGACGGAGTCTCGCTCTGTTGCCAAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCCATTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGCCTCAAACTATTTTATTTTTTTATTTTTTTTTTG... | AGATGGCCCATCCAACCTCTCTGTCTAGCTGCTCTGTCCAGGCTCCCTGTCCAGTCTCTCTCTCTTTTTTTTTTTTTTTTTTGTTTGAGACGGAGTCTCGCTCTGTTGCCAAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAACCTCTGCCTCCAAGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCCATTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGCCTCAAACTATTTTATTTTTTTATTTTTTTTTTG... | benign | 169,915 |
Evaluate this variant at chromosome 11, position 824987, gene PNPLA2 (patatin like domain 2, triacylglycerol lipase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CTCAGCCTCCCCATTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGCCTCAAACTATTTTATTTTTTTATTTTTTTTTTGAGATGAAGTCTCACACTGTCACCCAGGCTGGAGTGCAGTGGCTGGATCTCCTCTCACTGCAAGCTCCACCTCCCGGGTTCCTGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGTGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC... | CTCAGCCTCCCCATTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTACTTTTTGTATTTTTAGTAAAGAAATAGGGTTTCACCATGTTGGCCAGGCTGGCCTCAAACTATTTTATTTTTTTATTTTTTTTTTGAGATGAAGTCTCACACTGTCACCCAGGCTGGAGTGCAGTGGCTGGATCTCCTCTCACTGCAAGCTCCACCTCCCGGGTTCCTGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGTGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC... | benign | 169,917 |
Considering the variant on chromosome 11, location 836172, involving gene CD151 (CD151 molecule (Raph blood group)), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CAAGGCGGGTGGAACATCTAAGGTCAGGAGTTCGAGACCAGCCTGGTCCACATGGTGAAACTCTGTCTGTACTAAAAATACAAACATTAGCTGGGCGTGGTGGTGGGTGCCTGTAATCCCAGTGACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCGAAACTCCATCTCAAAAAAAGAAAAAAAGAAAAAAACAAAATGTCTTGTGCCTTGCCCCACCCTAGCCCAGACTAAAATACCGGGCTTGGCCACTCCT... | CAAGGCGGGTGGAACATCTAAGGTCAGGAGTTCGAGACCAGCCTGGTCCACATGGTGAAACTCTGTCTGTACTAAAAATACAAACATTAGCTGGGCGTGGTGGTGGGTGCCTGTAATCCCAGTGACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGCGAAACTCCATCTCAAAAAAAGAAAAAAAGAAAAAAACAAAATGTCTTGTGCCTTGCCCCACCCTAGCCCAGACTAAAATACCGGGCTTGGCCACTCCT... | benign | 169,928 |
Variant in CD151 (CD151 molecule (Raph blood group)), chromosome 11, position 836758—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GGCTTCCCCATGCTCACAGCTTGCCCACTGCTGCAGGTCGGGCGGGCACGGGGCATCTGGGGAGGGGCATAGCCTGTCTGTGCTGCCCCCTCAGGTTGGTGTGGGTCGCCTGTCCAGGAAAAACCCTCCCAGTCTGCCAGGCTCCACCTGCCTCCACGCTCCATTCTCCCCACCCCGGCCAGGATGAAGGAAGGGCTGCCCTTTAACAGACCGTAAACAGGCCTGGAGAGCTTAGGAAGGGGCTGAGCTGGGGCCTGTCTGAGCCCCTACCCCTCTGCTGTCTGAGTGGCCTCCTCCGCCCTTACTGCAGGCCCATAGGC... | GGCTTCCCCATGCTCACAGCTTGCCCACTGCTGCAGGTCGGGCGGGCACGGGGCATCTGGGGAGGGGCATAGCCTGTCTGTGCTGCCCCCTCAGGTTGGTGTGGGTCGCCTGTCCAGGAAAAACCCTCCCAGTCTGCCAGGCTCCACCTGCCTCCACGCTCCATTCTCCCCACCCCGGCCAGGATGAAGGAAGGGCTGCCCTTTAACAGACCGTAAACAGGCCTGGAGAGCTTAGGAAGGGGCTGAGCTGGGGCCTGTCTGAGCCCCTACCCCTCTGCTGTCTGAGTGGCCTCCTCCGCCCTTACTGCAGGCCCATAGGC... | benign | 169,932 |
Regarding the variant at chromosome 11 and position 1754150, affecting gene CTSD (cathepsin D): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TGCATCCGGGCACACGCTCCCAACCCCTCCCCTCCCAGCGGAACAAGCGCACCGCGTTATCAGCCCGGGGATCCGTGACTGTGGCAGCTGTGGCTGGAGGGGACTTCTGAGTCCAATCCCTGCAACCAGGGACCCTGGGCAGGCTTGCTTGGTGCCAGCTCAGCTCACTGCACACAAAACCGCTTCTAGGGCCTGGGAGGCAAGAAGGCCCAGCTAGGCCAGCCCCCCCACGCCACCTGGGGCCATTTATTTCCCGGGACAAGAGGGCTGAGGAGGGTGACTGGTAGGCCTGCTCTGAGGGTCCCCGAGAGCAGAAATAG... | TGCATCCGGGCACACGCTCCCAACCCCTCCCCTCCCAGCGGAACAAGCGCACCGCGTTATCAGCCCGGGGATCCGTGACTGTGGCAGCTGTGGCTGGAGGGGACTTCTGAGTCCAATCCCTGCAACCAGGGACCCTGGGCAGGCTTGCTTGGTGCCAGCTCAGCTCACTGCACACAAAACCGCTTCTAGGGCCTGGGAGGCAAGAAGGCCCAGCTAGGCCAGCCCCCCCACGCCACCTGGGGCCATTTATTTCCCGGGACAAGAGGGCTGAGGAGGGTGACTGGTAGGCCTGCTCTGAGGGTCCCCGAGAGCAGAAATAG... | benign | 170,176 |
A genetic variant at chromosome 11, position 1754794, affecting gene CTSD (cathepsin D)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | ACCAGCACAGAGGGGAGGCCGGAGGCCAACAACTGTATTTCCATGTCAGCTGGGGCTCTCAGCCGCCCAAGGGGAGGACAACAGAGGTCAGCTGCAGAGGAAGGCTGGCACCAGCCCCCAATCCCAACCCCACCTCCAGGCCAATACATGCCCCTGGGACTGGCTCAGTCCCAGCACCACCCTGCAGGCTCCAACAAGGTGGGTTTTGTCCCCTCTCACTCCTTCCAGCTCATCCTCAGGCCTCTAGCGGCCTCATCCTCAACGGGCCCGGGACACTGAACAGGTAGGGTGGCAGAGCCCAGCTGGGCCCAAGCTGGGCA... | ACCAGCACAGAGGGGAGGCCGGAGGCCAACAACTGTATTTCCATGTCAGCTGGGGCTCTCAGCCGCCCAAGGGGAGGACAACAGAGGTCAGCTGCAGAGGAAGGCTGGCACCAGCCCCCAATCCCAACCCCACCTCCAGGCCAATACATGCCCCTGGGACTGGCTCAGTCCCAGCACCACCCTGCAGGCTCCAACAAGGTGGGTTTTGTCCCCTCTCACTCCTTCCAGCTCATCCTCAGGCCTCTAGCGGCCTCATCCTCAACGGGCCCGGGACACTGAACAGGTAGGGTGGCAGAGCCCAGCTGGGCCCAAGCTGGGCA... | benign | 170,180 |
A mutation at chromosome position 1759599 on chromosome 11 in gene CTSD (cathepsin D): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Neuronal_ceroid_lipofuscinosis', 'Neuronal_ceroid_lipofuscinosis_10'] | GGGCACCTGCAGGCCAGGGCAGAGTCAGTGGGCAGCAGACAGGCTGAGCCCTACACCACTCCCTGAGCATGAGGCTACAAAACCCAGTTCAATGGATGCCCATCCCACACACGATGGGGCCCAGAGGGCCCAGAAGAAAGGGCTGGAAACCCTGAGCTGAACACCGCTGGGGATGGGGACACGGGGTATGGCGGGGCCCTCTTCGTGGAAGTCATCAGGGCTCGGTTTACACGAGATGGGAACCAGGCAGGAGCACAGACGGGCAGGCCCCTTGCTCCGCTCCCTGCTCCGACCTCTTACTCCCACCACCAATGACAGGC... | GGGCACCTGCAGGCCAGGGCAGAGTCAGTGGGCAGCAGACAGGCTGAGCCCTACACCACTCCCTGAGCATGAGGCTACAAAACCCAGTTCAATGGATGCCCATCCCACACACGATGGGGCCCAGAGGGCCCAGAAGAAAGGGCTGGAAACCCTGAGCTGAACACCGCTGGGGATGGGGACACGGGGTATGGCGGGGCCCTCTTCGTGGAAGTCATCAGGGCTCGGTTTACACGAGATGGGAACCAGGCAGGAGCACAGACGGGCAGGCCCCTTGCTCCGCTCCCTGCTCCGACCTCTTACTCCCACCACCAATGACAGGC... | pathogenic | 170,218 |
Variant at chromosome position 1759599, chromosome 11, gene CTSD (cathepsin D): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Neuronal_ceroid_lipofuscinosis'] | GGGCACCTGCAGGCCAGGGCAGAGTCAGTGGGCAGCAGACAGGCTGAGCCCTACACCACTCCCTGAGCATGAGGCTACAAAACCCAGTTCAATGGATGCCCATCCCACACACGATGGGGCCCAGAGGGCCCAGAAGAAAGGGCTGGAAACCCTGAGCTGAACACCGCTGGGGATGGGGACACGGGGTATGGCGGGGCCCTCTTCGTGGAAGTCATCAGGGCTCGGTTTACACGAGATGGGAACCAGGCAGGAGCACAGACGGGCAGGCCCCTTGCTCCGCTCCCTGCTCCGACCTCTTACTCCCACCACCAATGACAGGC... | GGGCACCTGCAGGCCAGGGCAGAGTCAGTGGGCAGCAGACAGGCTGAGCCCTACACCACTCCCTGAGCATGAGGCTACAAAACCCAGTTCAATGGATGCCCATCCCACACACGATGGGGCCCAGAGGGCCCAGAAGAAAGGGCTGGAAACCCTGAGCTGAACACCGCTGGGGATGGGGACACGGGGTATGGCGGGGCCCTCTTCGTGGAAGTCATCAGGGCTCGGTTTACACGAGATGGGAACCAGGCAGGAGCACAGACGGGCAGGCCCCTTGCTCCGCTCCCTGCTCCGACCTCTTACTCCCACCACCAATGACAGGC... | pathogenic | 170,219 |
Evaluate if the mutation on chromosome 11 at position 1841523 in TNNI2 (troponin I2, fast skeletal type) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Distal_arthrogryposis_type_2B1', 'TNNI2-related_disorder'] | TTCTCCTCTTACTTCTCACCCTGGGGAATTCCAAGACATTGTCCTTGAAGGAGGTGAGAGTAGGGGGAGGAGGTGAGAGTAGGGGGTGGGCGGGAGGGGGCTGTCATCAGGAGCCCTGAACCCCTCACCACCTACCTGATGGGCACAGGCATCACGGTGGCAAGGGCCTGGCCAACACCTCTGTCTTCCTCTCCCCACAGGCTCCAAGCTCAGGACCTCAGGATGGGAGAGTAAGTGGTACCCCTGTACCCCCATACAGTGACCCTGCCCACCTCCTGCCCTGTCCACCCCATCACACACTCCGACCCCGCCAGCCATGG... | TTCTCCTCTTACTTCTCACCCTGGGGAATTCCAAGACATTGTCCTTGAAGGAGGTGAGAGTAGGGGGAGGAGGTGAGAGTAGGGGGTGGGCGGGAGGGGGCTGTCATCAGGAGCCCTGAACCCCTCACCACCTACCTGATGGGCACAGGCATCACGGTGGCAAGGGCCTGGCCAACACCTCTGTCTTCCTCTCCCCACAGGCTCCAAGCTCAGGACCTCAGGATGGGAGAGTAAGTGGTACCCCTGTACCCCCATACAGTGACCCTGCCCACCTCCTGCCCTGTCCACCCCATCACACACTCCGACCCCGCCAGCCATGG... | pathogenic | 170,262 |
Variant chromosome 11, position 2161296, gene INS: benign or pathogenic? Disease(s)? | benign | GCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCA... | GCGAGGCCAGGGTGTGTGACTGTCCCGGGGCTGCCCAGAGCTGGGGATAGCGGGTGGCTCTCGGCAGCCTCTCCCCACCTTCCCAGCCCCCCGCCCTGCAGGACCCCCTCCCTCAGCCCAGCCTCCTCCCTCCACAGGGACTCCATCAGAAATAACTCTAAAAATAGAACCTGGGAGGGCTAGGTGGGGGGAAAATTGCTGGAATGTTCTCATTCCCTTTCCTGAACAAGGTCTCTGGGGACTCCAAGAGTCCAGAGCTACTGAACAAGAAGTCACTTCTCAGTGGCCCCACCACCCCTGGCCCCTCAGAGACCCCCGCA... | benign | 170,335 |
A genetic variant at chromosome 11, position 2161600, affecting gene INS—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCA... | CTCAGAGACCCCCGCAGCTCCCATACTGGACCCTGAGCCACAGGGTGGGGGCAGCAGGCAGCCGACAGGCATGGCCGCTTTGGGGAGAGCCACTGCATGCTGGGCCTGGCCGGCGTTGGCACCTGTGGGCACCCAGAGAGCGTGGAGAGAGCTGGGAGGGGCTCACAACAGTGCCGGGAAGTGGGGCTTGGCCCAGGGCCCCCAAGACACACAGACGGCACAGCAGGGCTGGTTCAAGGGCTTTATTCCATCTCTCTCGGTGCAGGAGGCGGCGGGTGTGGGGCTGCCTGCGGGCTGCGTCTAGTTGCAGTAGTTCTCCA... | benign | 170,338 |
Regarding the variant at chromosome 11 and position 2165687, affecting gene TH (tyrosine hydroxylase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_DOPA_responsive_dystonia'] | CCCACTGTCACGTGGCTCCCCACCTTGGGAGGGCACCCCACGGAGATGGGGCAGCTCGGCCAGGGTGCCCGAGCCTCTGGAGCTGCTTGGGGCTCAGAGCTGGGCGGGGCCTCAGGGTGAGCGGGGAAACCAGGCCCGGAGGGGCCAGCTGCCTGGCCAGGGCGGCCAGCCATCTCCCAGAGGAGGAAGGAGGCCAGGGCGAAACCTCTGAGTGAGGCTGGGGTGGGGGTGTGGGAGTCTGAGGATCCCAGGGTCTGTCTCTGTGGCACAGATGTGGGGCCAGGCAGGTGTAGAGACCACAGTTTCTTTTATTGTGACGG... | CCCACTGTCACGTGGCTCCCCACCTTGGGAGGGCACCCCACGGAGATGGGGCAGCTCGGCCAGGGTGCCCGAGCCTCTGGAGCTGCTTGGGGCTCAGAGCTGGGCGGGGCCTCAGGGTGAGCGGGGAAACCAGGCCCGGAGGGGCCAGCTGCCTGGCCAGGGCGGCCAGCCATCTCCCAGAGGAGGAAGGAGGCCAGGGCGAAACCTCTGAGTGAGGCTGGGGTGGGGGTGTGGGAGTCTGAGGATCCCAGGGTCTGTCTCTGTGGCACAGATGTGGGGCCAGGCAGGTGTAGAGACCACAGTTTCTTTTATTGTGACGG... | pathogenic | 170,357 |
Determine whether the variant at chromosome 11, position 2165742, in gene TH (tyrosine hydroxylase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_DOPA_responsive_dystonia'] | TCGGCCAGGGTGCCCGAGCCTCTGGAGCTGCTTGGGGCTCAGAGCTGGGCGGGGCCTCAGGGTGAGCGGGGAAACCAGGCCCGGAGGGGCCAGCTGCCTGGCCAGGGCGGCCAGCCATCTCCCAGAGGAGGAAGGAGGCCAGGGCGAAACCTCTGAGTGAGGCTGGGGTGGGGGTGTGGGAGTCTGAGGATCCCAGGGTCTGTCTCTGTGGCACAGATGTGGGGCCAGGCAGGTGTAGAGACCACAGTTTCTTTTATTGTGACGGTGATTGGGGCAGCAGACAGTGTCAGGGAAGGGCGGAGGGCAGTGCAGCAGCCCCC... | TCGGCCAGGGTGCCCGAGCCTCTGGAGCTGCTTGGGGCTCAGAGCTGGGCGGGGCCTCAGGGTGAGCGGGGAAACCAGGCCCGGAGGGGCCAGCTGCCTGGCCAGGGCGGCCAGCCATCTCCCAGAGGAGGAAGGAGGCCAGGGCGAAACCTCTGAGTGAGGCTGGGGTGGGGGTGTGGGAGTCTGAGGATCCCAGGGTCTGTCTCTGTGGCACAGATGTGGGGCCAGGCAGGTGTAGAGACCACAGTTTCTTTTATTGTGACGGTGATTGGGGCAGCAGACAGTGTCAGGGAAGGGCGGAGGGCAGTGCAGCAGCCCCC... | pathogenic | 170,359 |
Evaluate if the mutation on chromosome 11 at position 2165745 in TH (tyrosine hydroxylase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_DOPA_responsive_dystonia'] | GCCAGGGTGCCCGAGCCTCTGGAGCTGCTTGGGGCTCAGAGCTGGGCGGGGCCTCAGGGTGAGCGGGGAAACCAGGCCCGGAGGGGCCAGCTGCCTGGCCAGGGCGGCCAGCCATCTCCCAGAGGAGGAAGGAGGCCAGGGCGAAACCTCTGAGTGAGGCTGGGGTGGGGGTGTGGGAGTCTGAGGATCCCAGGGTCTGTCTCTGTGGCACAGATGTGGGGCCAGGCAGGTGTAGAGACCACAGTTTCTTTTATTGTGACGGTGATTGGGGCAGCAGACAGTGTCAGGGAAGGGCGGAGGGCAGTGCAGCAGCCCCCAGG... | GCCAGGGTGCCCGAGCCTCTGGAGCTGCTTGGGGCTCAGAGCTGGGCGGGGCCTCAGGGTGAGCGGGGAAACCAGGCCCGGAGGGGCCAGCTGCCTGGCCAGGGCGGCCAGCCATCTCCCAGAGGAGGAAGGAGGCCAGGGCGAAACCTCTGAGTGAGGCTGGGGTGGGGGTGTGGGAGTCTGAGGATCCCAGGGTCTGTCTCTGTGGCACAGATGTGGGGCCAGGCAGGTGTAGAGACCACAGTTTCTTTTATTGTGACGGTGATTGGGGCAGCAGACAGTGTCAGGGAAGGGCGGAGGGCAGTGCAGCAGCCCCCAGG... | pathogenic | 170,360 |
Chromosome 11, position 2166481, gene TH (tyrosine hydroxylase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_DOPA_responsive_dystonia'] | AGAGTCTGCAGCCTCCAGGAGAGGGGAGGCCAGGGGCCGCGTTTCCACCTTCACAGTGGCTCAGAGCTCCCAGGGCTTTTCTGAGCCAACTGGTCACAGGCGGGACACTGAGGCCTCTTCCAGGGCTGGGTGAGGGGGTTCATGGGGGAGATAGGCTAGGCGCCTTTTCCACTAGAGACTGCCGGGCACCCCATCCCTCCCTGAACCTCCACTGGGCCTCCTCCAGGAAGCTTTCCTTGACCATATCCCTAAGCCTGTGGGTGGAATTCAGCACCCCTGTCCGCTGGACACATAGCCCCTGGCCTCAGTTTCCCCAGTGC... | AGAGTCTGCAGCCTCCAGGAGAGGGGAGGCCAGGGGCCGCGTTTCCACCTTCACAGTGGCTCAGAGCTCCCAGGGCTTTTCTGAGCCAACTGGTCACAGGCGGGACACTGAGGCCTCTTCCAGGGCTGGGTGAGGGGGTTCATGGGGGAGATAGGCTAGGCGCCTTTTCCACTAGAGACTGCCGGGCACCCCATCCCTCCCTGAACCTCCACTGGGCCTCCTCCAGGAAGCTTTCCTTGACCATATCCCTAAGCCTGTGGGTGGAATTCAGCACCCCTGTCCGCTGGACACATAGCCCCTGGCCTCAGTTTCCCCAGTGC... | pathogenic | 170,371 |
Considering the genetic mutation at chromosome 11, position 2166524, impacting TH (tyrosine hydroxylase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_DOPA_responsive_dystonia'] | TCCACCTTCACAGTGGCTCAGAGCTCCCAGGGCTTTTCTGAGCCAACTGGTCACAGGCGGGACACTGAGGCCTCTTCCAGGGCTGGGTGAGGGGGTTCATGGGGGAGATAGGCTAGGCGCCTTTTCCACTAGAGACTGCCGGGCACCCCATCCCTCCCTGAACCTCCACTGGGCCTCCTCCAGGAAGCTTTCCTTGACCATATCCCTAAGCCTGTGGGTGGAATTCAGCACCCCTGTCCGCTGGACACATAGCCCCTGGCCTCAGTTTCCCCAGTGCATAAGAGGCTGGAGGGAAAATGATGAGACCTTTTATGAGGATG... | TCCACCTTCACAGTGGCTCAGAGCTCCCAGGGCTTTTCTGAGCCAACTGGTCACAGGCGGGACACTGAGGCCTCTTCCAGGGCTGGGTGAGGGGGTTCATGGGGGAGATAGGCTAGGCGCCTTTTCCACTAGAGACTGCCGGGCACCCCATCCCTCCCTGAACCTCCACTGGGCCTCCTCCAGGAAGCTTTCCTTGACCATATCCCTAAGCCTGTGGGTGGAATTCAGCACCCCTGTCCGCTGGACACATAGCCCCTGGCCTCAGTTTCCCCAGTGCATAAGAGGCTGGAGGGAAAATGATGAGACCTTTTATGAGGATG... | pathogenic | 170,374 |
Variant in TH (tyrosine hydroxylase), chromosome 11, position 2166932—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_DOPA_responsive_dystonia'] | CCCACCTTGACTCTGTCTATCCCCCTGACTTCTCCCCATCCCAGGGCAGGGGGCCGGGACAGGTTCCACAGGACGTCCTCACAAAGCTCAGGCTCTGTCAGCACCTCCAAGACTGGCCTTGACCCGGCCACCCAGCAGCCCCCAGTCCTGTAGGTCTGCCCCTCCCCAGACGCTGGGGTCCTTCTCACGGATGGTGTCCCTGCTGTGTGGGGGCTGCTGCAACCAGGGGTCGGTTTTCTCATCTGTGACCTGGGCTCACAGGTCCAGCCCTGCTCAAGGCCAGAAGGAAGGCCTGGCTGGCCCAGTTTGGGGGCACCATG... | CCCACCTTGACTCTGTCTATCCCCCTGACTTCTCCCCATCCCAGGGCAGGGGGCCGGGACAGGTTCCACAGGACGTCCTCACAAAGCTCAGGCTCTGTCAGCACCTCCAAGACTGGCCTTGACCCGGCCACCCAGCAGCCCCCAGTCCTGTAGGTCTGCCCCTCCCCAGACGCTGGGGTCCTTCTCACGGATGGTGTCCCTGCTGTGTGGGGGCTGCTGCAACCAGGGGTCGGTTTTCTCATCTGTGACCTGGGCTCACAGGTCCAGCCCTGCTCAAGGCCAGAAGGAAGGCCTGGCTGGCCCAGTTTGGGGGCACCATG... | pathogenic | 170,381 |
The genetic variant at chromosome 11, position 2166948, affecting gene TH (tyrosine hydroxylase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_DOPA_responsive_dystonia'] | CTATCCCCCTGACTTCTCCCCATCCCAGGGCAGGGGGCCGGGACAGGTTCCACAGGACGTCCTCACAAAGCTCAGGCTCTGTCAGCACCTCCAAGACTGGCCTTGACCCGGCCACCCAGCAGCCCCCAGTCCTGTAGGTCTGCCCCTCCCCAGACGCTGGGGTCCTTCTCACGGATGGTGTCCCTGCTGTGTGGGGGCTGCTGCAACCAGGGGTCGGTTTTCTCATCTGTGACCTGGGCTCACAGGTCCAGCCCTGCTCAAGGCCAGAAGGAAGGCCTGGCTGGCCCAGTTTGGGGGCACCATGGGGGGCTTGCCCTAGC... | CTATCCCCCTGACTTCTCCCCATCCCAGGGCAGGGGGCCGGGACAGGTTCCACAGGACGTCCTCACAAAGCTCAGGCTCTGTCAGCACCTCCAAGACTGGCCTTGACCCGGCCACCCAGCAGCCCCCAGTCCTGTAGGTCTGCCCCTCCCCAGACGCTGGGGTCCTTCTCACGGATGGTGTCCCTGCTGTGTGGGGGCTGCTGCAACCAGGGGTCGGTTTTCTCATCTGTGACCTGGGCTCACAGGTCCAGCCCTGCTCAAGGCCAGAAGGAAGGCCTGGCTGGCCCAGTTTGGGGGCACCATGGGGGGCTTGCCCTAGC... | pathogenic | 170,382 |
Benign or pathogenic: chromosome 11, position 2167016, gene TH (tyrosine hydroxylase) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_DOPA_responsive_dystonia'] | AGCTCAGGCTCTGTCAGCACCTCCAAGACTGGCCTTGACCCGGCCACCCAGCAGCCCCCAGTCCTGTAGGTCTGCCCCTCCCCAGACGCTGGGGTCCTTCTCACGGATGGTGTCCCTGCTGTGTGGGGGCTGCTGCAACCAGGGGTCGGTTTTCTCATCTGTGACCTGGGCTCACAGGTCCAGCCCTGCTCAAGGCCAGAAGGAAGGCCTGGCTGGCCCAGTTTGGGGGCACCATGGGGGGCTTGCCCTAGCAGCCTAGCCCACCTGAGCTTGTCCTTGGCGTCACTGAAGCTCTCAGACACGAAGTAGACTGACTGGTA... | AGCTCAGGCTCTGTCAGCACCTCCAAGACTGGCCTTGACCCGGCCACCCAGCAGCCCCCAGTCCTGTAGGTCTGCCCCTCCCCAGACGCTGGGGTCCTTCTCACGGATGGTGTCCCTGCTGTGTGGGGGCTGCTGCAACCAGGGGTCGGTTTTCTCATCTGTGACCTGGGCTCACAGGTCCAGCCCTGCTCAAGGCCAGAAGGAAGGCCTGGCTGGCCCAGTTTGGGGGCACCATGGGGGGCTTGCCCTAGCAGCCTAGCCCACCTGAGCTTGTCCTTGGCGTCACTGAAGCTCTCAGACACGAAGTAGACTGACTGGTA... | pathogenic | 170,385 |
Benign or pathogenic: chromosome 11, position 2167926, gene TH (tyrosine hydroxylase) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_DOPA_responsive_dystonia'] | GCCAGGGTGAGGGTCACAATTCGTGGGTGGAAGGAGAGGCCTCAGCCTGGACGGCAAGAGGGTGAGGCCTGGATTCAGACCCCCAAACCCACACCCCAGGCCCTGCAGGGAGGGGTCAACCCACCGTGGACAGCTTCTCAATTTCCTCATCCGAGGCCCCCAGGGACGCCAGGCCAATGTCCTGTGGAGCAGGGAGGATGAAGGATGGGGAGAGGCAGCCCTGGGTCATGCTCGAGGTGGGGGCACCGGGGGTGTCAGCAGCCCCTCCAGGGGTCTCTGGGACACTTCCCTGGCGGCAGAGACCTTCCCTGGCCGCCCAG... | GCCAGGGTGAGGGTCACAATTCGTGGGTGGAAGGAGAGGCCTCAGCCTGGACGGCAAGAGGGTGAGGCCTGGATTCAGACCCCCAAACCCACACCCCAGGCCCTGCAGGGAGGGGTCAACCCACCGTGGACAGCTTCTCAATTTCCTCATCCGAGGCCCCCAGGGACGCCAGGCCAATGTCCTGTGGAGCAGGGAGGATGAAGGATGGGGAGAGGCAGCCCTGGGTCATGCTCGAGGTGGGGGCACCGGGGGTGTCAGCAGCCCCTCCAGGGGTCTCTGGGACACTTCCCTGGCGGCAGAGACCTTCCCTGGCCGCCCAG... | pathogenic | 170,403 |
Is the genetic variant on chromosome 11, position 2168699, gene TH (tyrosine hydroxylase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GGCGAGGACGCGTGGCGGATATACTGGGTGCACTGGAACACGCGGAAGGCCAGGCTGGCCAGGAAGTCCCGGGCGGACAGCAGGCCGGCCACAGGCCGCAGCTGGAAGCCCGTGCGCTCTGCAAGGGGCCACGCGGGTCACTGCCGAGCCGGGACGGGCTGGAGCCGCGCTGGGGTGGGGCGCTTGGCTGACCATCCCCGGCCCCCCGGCTCTGCGCCCCTCCCGTCTGGGCACACCCTTCAGGAAGCGGGAGACGTCCTCCAGCTGGGGGATATTGTCTTCCCGGTAGCCGCTGAAGCGCTCCAGCAAAGCAAAGGCCT... | GGCGAGGACGCGTGGCGGATATACTGGGTGCACTGGAACACGCGGAAGGCCAGGCTGGCCAGGAAGTCCCGGGCGGACAGCAGGCCGGCCACAGGCCGCAGCTGGAAGCCCGTGCGCTCTGCAAGGGGCCACGCGGGTCACTGCCGAGCCGGGACGGGCTGGAGCCGCGCTGGGGTGGGGCGCTTGGCTGACCATCCCCGGCCCCCCGGCTCTGCGCCCCTCCCGTCTGGGCACACCCTTCAGGAAGCGGGAGACGTCCTCCAGCTGGGGGATATTGTCTTCCCGGTAGCCGCTGAAGCGCTCCAGCAAAGCAAAGGCCT... | benign | 170,414 |
Variant chromosome 11, position 2169758, gene TH (tyrosine hydroxylase): benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_DOPA_responsive_dystonia'] | TTGGGGACATGGAAAGCCCTGGAGCAGAGCTGCCTGGCAGGAGGCACTGATGCTGGTGACAAGATGGGTCCTCCCCTTTGTCCTTCCCTCCCACCCCCCAGGTCCAGCGTCAGCCTGCAGGACGGAGTCTGGGTCCCGAGCGCAGGGGCCCCTCACTGCCTGTACTGGAAGGCGATCTCAGCAATCAGCTTCCTGCGCTGGCGGTACACCTGGTCCGAGAAGCCCTGAGGGCAGAGGGGATGCACGGGTCAGGAGGCTGTGCTGGGGTGGGGGCACAGGCCACGGAGGCTCCTGGAGCCGACAGACTCCTGTCCAGGGTT... | TTGGGGACATGGAAAGCCCTGGAGCAGAGCTGCCTGGCAGGAGGCACTGATGCTGGTGACAAGATGGGTCCTCCCCTTTGTCCTTCCCTCCCACCCCCCAGGTCCAGCGTCAGCCTGCAGGACGGAGTCTGGGTCCCGAGCGCAGGGGCCCCTCACTGCCTGTACTGGAAGGCGATCTCAGCAATCAGCTTCCTGCGCTGGCGGTACACCTGGTCCGAGAAGCCCTGAGGGCAGAGGGGATGCACGGGTCAGGAGGCTGTGCTGGGGTGGGGGCACAGGCCACGGAGGCTCCTGGAGCCGACAGACTCCTGTCCAGGGTT... | pathogenic | 170,424 |
Clinically, how would you classify the variant at chromosome 11, position 2171735, gene TH (tyrosine hydroxylase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_DOPA_responsive_dystonia'] | TTGGTGGCCCTCGGGGAGAAGAGCAGGTTTAGCACGGCCTTCCCCTCCTTCTCCTCAAAGGCCACAGCCTCCAGGGGGTCCCCGGGCTCCGAGGGGACTGCAGCGGCCGCTGCTGCCACCGCCGCCTCCCGCTCCTTGCGGGCGTCCTCGATGAGGCTCTGCCTGCGCCCAATGAACCGCGGGGACTGTGGGGACAAGGGGCACCCATGCCTCCTCCACCTGCTGAGACCCGGGGACCTCCACCCACAGCTGGTCCCACAGTCGGGCAGCGCTGATGGCACACAGAGGCAGGGGATGAGAGCACGTTTTTGAGCGCCTAC... | TTGGTGGCCCTCGGGGAGAAGAGCAGGTTTAGCACGGCCTTCCCCTCCTTCTCCTCAAAGGCCACAGCCTCCAGGGGGTCCCCGGGCTCCGAGGGGACTGCAGCGGCCGCTGCTGCCACCGCCGCCTCCCGCTCCTTGCGGGCGTCCTCGATGAGGCTCTGCCTGCGCCCAATGAACCGCGGGGACTGTGGGGACAAGGGGCACCCATGCCTCCTCCACCTGCTGAGACCCGGGGACCTCCACCCACAGCTGGTCCCACAGTCGGGCAGCGCTGATGGCACACAGAGGCAGGGGATGAGAGCACGTTTTTGAGCGCCTAC... | pathogenic | 170,433 |
Does the genetic variant at chromosome 11, position 2171774, impacting gene TH (tyrosine hydroxylase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_DOPA_responsive_dystonia'] | TTCCCCTCCTTCTCCTCAAAGGCCACAGCCTCCAGGGGGTCCCCGGGCTCCGAGGGGACTGCAGCGGCCGCTGCTGCCACCGCCGCCTCCCGCTCCTTGCGGGCGTCCTCGATGAGGCTCTGCCTGCGCCCAATGAACCGCGGGGACTGTGGGGACAAGGGGCACCCATGCCTCCTCCACCTGCTGAGACCCGGGGACCTCCACCCACAGCTGGTCCCACAGTCGGGCAGCGCTGATGGCACACAGAGGCAGGGGATGAGAGCACGTTTTTGAGCGCCTACTGTGTGCCTGCTGGGGCAGATGCTAGCCGAGGTGCCTGC... | TTCCCCTCCTTCTCCTCAAAGGCCACAGCCTCCAGGGGGTCCCCGGGCTCCGAGGGGACTGCAGCGGCCGCTGCTGCCACCGCCGCCTCCCGCTCCTTGCGGGCGTCCTCGATGAGGCTCTGCCTGCGCCCAATGAACCGCGGGGACTGTGGGGACAAGGGGCACCCATGCCTCCTCCACCTGCTGAGACCCGGGGACCTCCACCCACAGCTGGTCCCACAGTCGGGCAGCGCTGATGGCACACAGAGGCAGGGGATGAGAGCACGTTTTTGAGCGCCTACTGTGTGCCTGCTGGGGCAGATGCTAGCCGAGGTGCCTGC... | pathogenic | 170,437 |
Is the variant located on chromosome 11 at position 2445259, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome'] | TGCGGTGAGATGGACCCAAGGTATGCTTTTTCTTTCTTTATGACTGTCCAGTTGTCCAAACGCTGCTTATTCAAAGCTCACCTTCCTCCTGCTGAGGTGGGAGGGGAAGGCAGAGACTCCATGCAGGTGTATGTATGTTCACCCGGAAAGTAACTGCTGAATGCGTGCTGTGTGCCCTGCAGAGCTGACTGACTGCCCCCATCTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCAC... | TGCGGTGAGATGGACCCAAGGTATGCTTTTTCTTTCTTTATGACTGTCCAGTTGTCCAAACGCTGCTTATTCAAAGCTCACCTTCCTCCTGCTGAGGTGGGAGGGGAAGGCAGAGACTCCATGCAGGTGTATGTATGTTCACCCGGAAAGTAACTGCTGAATGCGTGCTGTGTGCCCTGCAGAGCTGACTGACTGCCCCCATCTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCAC... | pathogenic | 170,488 |
Clinical significance of chromosome 11, position 2445294, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Atrial_fibrillation,_familial,_3', 'Beckwith-Wiedemann_syndrome', 'Cardiovascular_phenotype', 'Jervell_and_Lange-Nielsen_syndrome_1', 'KCNQ1-related_disorder', 'Long_QT_syndrome', 'Long_QT_syndrome_1', 'Short_QT_syndrome_type_2'] | CTTTATGACTGTCCAGTTGTCCAAACGCTGCTTATTCAAAGCTCACCTTCCTCCTGCTGAGGTGGGAGGGGAAGGCAGAGACTCCATGCAGGTGTATGTATGTTCACCCGGAAAGTAACTGCTGAATGCGTGCTGTGTGCCCTGCAGAGCTGACTGACTGCCCCCATCTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTG... | CTTTATGACTGTCCAGTTGTCCAAACGCTGCTTATTCAAAGCTCACCTTCCTCCTGCTGAGGTGGGAGGGGAAGGCAGAGACTCCATGCAGGTGTATGTATGTTCACCCGGAAAGTAACTGCTGAATGCGTGCTGTGTGCCCTGCAGAGCTGACTGACTGCCCCCATCTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTG... | pathogenic | 170,496 |
Does the variant on chromosome 11 at location 2445457 affecting gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Long_QT_syndrome'] | CCATCTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTGGCACCTCACTAGGGTGGGGAGTCAGGCGTCAAGGGCCTGGGCTGGACTCCGTCCACGATAAAAGAGCAGACTTTTGGCAGGGGGTGGTAGATACATCAAATTGACCCAGGGTGCTCAGGGACGACCTGGAAGTGTCACATGAGTTATGGGTCTCCTGGCGGGG... | CCATCTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTGGCACCTCACTAGGGTGGGGAGTCAGGCGTCAAGGGCCTGGGCTGGACTCCGTCCACGATAAAAGAGCAGACTTTTGGCAGGGGGTGGTAGATACATCAAATTGACCCAGGGTGCTCAGGGACGACCTGGAAGTGTCACATGAGTTATGGGTCTCCTGGCGGGG... | pathogenic | 170,517 |
Chromosome 11, position 2445461, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'KCNQ1-related_disorder', 'Long_QT_syndrome', 'Long_QT_syndrome_1'] | CTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTGGCACCTCACTAGGGTGGGGAGTCAGGCGTCAAGGGCCTGGGCTGGACTCCGTCCACGATAAAAGAGCAGACTTTTGGCAGGGGGTGGTAGATACATCAAATTGACCCAGGGTGCTCAGGGACGACCTGGAAGTGTCACATGAGTTATGGGTCTCCTGGCGGGGCGGA... | CTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTGGCACCTCACTAGGGTGGGGAGTCAGGCGTCAAGGGCCTGGGCTGGACTCCGTCCACGATAAAAGAGCAGACTTTTGGCAGGGGGTGGTAGATACATCAAATTGACCCAGGGTGCTCAGGGACGACCTGGAAGTGTCACATGAGTTATGGGTCTCCTGGCGGGGCGGA... | pathogenic | 170,518 |
The mutation in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) at chromosome 11, position 2445478—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | TTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTGGCACCTCACTAGGGTGGGGAGTCAGGCGTCAAGGGCCTGGGCTGGACTCCGTCCACGATAAAAGAGCAGACTTTTGGCAGGGGGTGGTAGATACATCAAATTGACCCAGGGTGCTCAGGGACGACCTGGAAGTGTCACATGAGTTATGGGTCTCCTGGCGGGGCGGAGAGTCACCGCTGAGCTC... | TTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTGGCACCTCACTAGGGTGGGGAGTCAGGCGTCAAGGGCCTGGGCTGGACTCCGTCCACGATAAAAGAGCAGACTTTTGGCAGGGGGTGGTAGATACATCAAATTGACCCAGGGTGCTCAGGGACGACCTGGAAGTGTCACATGAGTTATGGGTCTCCTGGCGGGGCGGAGAGTCACCGCTGAGCTC... | pathogenic | 170,519 |
Assess the variant on chromosome 11, position 2527942, impacting KCNQ1 (potassium voltage-gated channel subfamily Q member 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Congenital_long_QT_syndrome', 'Jervell_and_Lange-Nielsen_syndrome', 'Long_QT_syndrome'] | ACAGCCCCACTCTTGGGGTGCTCATGGTCTAGGGGGTGGACAACAGACTCTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTG... | ACAGCCCCACTCTTGGGGTGCTCATGGTCTAGGGGGTGGACAACAGACTCTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTG... | pathogenic | 170,529 |
Variant chromosome 11, position 2527965, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic? Disease(s)? | pathogenic; ['Long_QT_syndrome_1'] | ATGGTCTAGGGGGTGGACAACAGACTCTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGGGCTGGG... | ATGGTCTAGGGGGTGGACAACAGACTCTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGGGCTGGG... | pathogenic | 170,535 |
Classify the chromosome 11 variant at position 2527983 affecting gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiac_arrhythmia', 'Long_QT_syndrome', 'Long_QT_syndrome_1'] | AACAGACTCTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGGGCTGGGGGCGCCGAGGGTGGAGGT... | AACAGACTCTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGGGCTGGGGGCGCCGAGGGTGGAGGT... | pathogenic | 170,537 |
Variant in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), located at chromosome 11 position 2527991: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Jervell_and_Lange-Nielsen_syndrome_1', 'Long_QT_syndrome'] | CTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGGGCTGGGGGCGCCGAGGGTGGAGGTGGGCACTG... | CTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGGGCTGGGGGCGCCGAGGGTGGAGGTGGGCACTG... | pathogenic | 170,539 |
Does the genetic variant at chromosome 11, position 2528004, impacting gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Long_QT_syndrome'] | TGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGGGCTGGGGGCGCCGAGGGTGGAGGTGGGCACTGTGGTCAGGGGGAG... | TGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGGGCTGGGGGCGCCGAGGGTGGAGGTGGGCACTGTGGTCAGGGGGAG... | pathogenic | 170,541 |
The mutation impacting KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on chromosome 11 at position 2570637: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Congenital_long_QT_syndrome', 'Jervell_and_Lange-Nielsen_syndrome', 'KCNQ1-related_disorder', 'Long_QT_syndrome', 'Long_QT_syndrome_1', 'Rare_genetic_deafness'] | CTCCTGCTACCAGAGAGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATG... | CTCCTGCTACCAGAGAGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATG... | pathogenic | 170,552 |
For chromosome 11, position 2570651, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome', 'Long_QT_syndrome_1'] | GAGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGT... | GAGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGT... | pathogenic | 170,555 |
Clinical significance of chromosome 11, position 2570664, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Long_QT_syndrome_1'] | GCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGA... | GCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGA... | pathogenic | 170,563 |
Is the chromosome 11, position 2570664 variant in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Long_QT_syndrome'] | GCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGA... | GCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGA... | pathogenic | 170,564 |
Assess the variant on chromosome 11, position 2570700, impacting KCNQ1 (potassium voltage-gated channel subfamily Q member 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Long_QT_syndrome'] | GTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTG... | GTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTG... | pathogenic | 170,573 |
Clinical classification of chromosome 11, position 2570701, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Long_QT_syndrome_1'] | TTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGC... | TTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGC... | pathogenic | 170,575 |
Is the genetic variant on chromosome 11, position 2570712, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Cardiovascular_phenotype', 'Jervell_and_Lange-Nielsen_syndrome_1', 'KCNQ1-related_disorder', 'Long_QT_syndrome', 'Long_QT_syndrome_1'] | TGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTC... | TGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTC... | pathogenic | 170,580 |
Mutation found at chromosome 11 position 2570712, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Long_QT_syndrome'] | TGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTC... | TGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTC... | pathogenic | 170,581 |
Does the variant on chromosome 11 at location 2570719 affecting gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Congenital_long_QT_syndrome', 'Jervell_and_Lange-Nielsen_syndrome', 'Jervell_and_Lange-Nielsen_syndrome_1', 'KCNQ1-related_disorder', 'Long_QT_syndrome', 'Long_QT_syndrome_1'] | GTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGAT... | GTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGAT... | pathogenic | 170,589 |
Chromosome 11, position 2570733, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiac_arrhythmia', 'Cardiovascular_phenotype', 'Congenital_long_QT_syndrome', 'Long_QT_syndrome'] | GGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGC... | GGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGC... | pathogenic | 170,592 |
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