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 |
|---|---|---|---|---|---|
Mutation found at chromosome 13 position 48476703, gene RB1 (RB transcriptional corepressor 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Retinoblastoma'] | TATTCTTTTTCTGGTACACTGATTAGGAATTGTTTGCATGAGATCCTGCCTCAGTGAAAGTGGCAGAGCTTCATTCTAGGAGATCCAAGGGAAAGCTTTGCTTTGAAACATTTATTCTAGGCTGCAAATCCACAACCCTAGTTGGCCTTCCATTAAAGTCACTAATTCAGCAGTCCCATATTCAATATGCATTACTGTTAATATGTTGCACCATCTCCATTCCCCTGAGAGCTTATATTTTTAATTTTTAAATTTTTATTTTTAGAGACAGTGTCTCACTCTGTCACCTACTTATTATAACCTCAAACTCCTCGGCCCAA... | TATTCTTTTTCTGGTACACTGATTAGGAATTGTTTGCATGAGATCCTGCCTCAGTGAAAGTGGCAGAGCTTCATTCTAGGAGATCCAAGGGAAAGCTTTGCTTTGAAACATTTATTCTAGGCTGCAAATCCACAACCCTAGTTGGCCTTCCATTAAAGTCACTAATTCAGCAGTCCCATATTCAATATGCATTACTGTTAATATGTTGCACCATCTCCATTCCCCTGAGAGCTTATATTTTTAATTTTTAAATTTTTATTTTTAGAGACAGTGTCTCACTCTGTCACCTACTTATTATAACCTCAAACTCCTCGGCCCAA... | pathogenic | 215,206 |
Benign or pathogenic: chromosome 13, position 49552181, gene RCBTB1 (RCC1 and BTB domain containing protein 1) variant? Disease(s) if pathogenic? | pathogenic; ['Exudative_retinopathy', 'RCBTB1-related_retinopathy'] | CATACCCGGCTAAGTTTTGTATTTTTTATAGAGACAGAGTCTCGCTATATTGCCAGGGCCGGTCACCAACTCCTGGGCTCAAGTGATCCTCTGCCTTCGCCTCCCAAAGTGCTGGGGATTACAGGTGTAAGCCATCGTGCCTGGCCCATTTCTTTATAAATGTAACTTTTTCTCTCATCTCCTACCAGAGCTCAGAACACTCATTGGGCTGATAAGCATTGGCTGGGGGTCACGGACTCTGAACGTTCCAATCCAAAAGGAAAACAAGCCAAACTTACTATATTTCTCAGTAGTATGCTTCTTGGGTAAGGTCTCATAAT... | CATACCCGGCTAAGTTTTGTATTTTTTATAGAGACAGAGTCTCGCTATATTGCCAGGGCCGGTCACCAACTCCTGGGCTCAAGTGATCCTCTGCCTTCGCCTCCCAAAGTGCTGGGGATTACAGGTGTAAGCCATCGTGCCTGGCCCATTTCTTTATAAATGTAACTTTTTCTCTCATCTCCTACCAGAGCTCAGAACACTCATTGGGCTGATAAGCATTGGCTGGGGGTCACGGACTCTGAACGTTCCAATCCAAAAGGAAAACAAGCCAAACTTACTATATTTCTCAGTAGTATGCTTCTTGGGTAAGGTCTCATAAT... | pathogenic | 215,287 |
Benign or pathogenic: chromosome 13, position 49566724, gene RCBTB1 (RCC1 and BTB domain containing protein 1) variant? Disease(s) if pathogenic? | pathogenic; ['RCBTB1-related_retinopathy'] | GGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCAGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGCATGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAGAAAGAAAGAAAAGAAAAACGTACCAAAGGAACCCTGAAAGTTGCATTGCAGAACAAAGACCAGTGAGCTATTAAGGAATAGGATTGCAGCTGT... | GGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCGCCAGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGTGGAGCATGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAGAAAGAAAGAAAAGAAAAACGTACCAAAGGAACCCTGAAAGTTGCATTGCAGAACAAAGACCAGTGAGCTATTAAGGAATAGGATTGCAGCTGT... | pathogenic | 215,302 |
Gene RNASEH2B (ribonuclease H2 subunit B) variant at chromosome 13, position 50927477—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Aicardi-Goutieres_syndrome_2', 'Aicardi_Goutieres_syndrome', 'RNASEH2B-related_disorder'] | GATGAGTATTTTGTATTTCTATAAAATACCCTTGAACTTCATTCTTGGACACAGTTACTTTGAAAGAATTGGATACTTTTAGGTCTTGCTTTTATAATTAGTTTGGTAGGACCAGTCCAGCAAATAGTTAGGGCTGACTCTTCCCTACTACTAAGGACCCTTTTGAGTACTATGCCTAAAGCTCCATGAATTGTGAGGTTTTACAGTCTGTCTGGGAGTAGGCACAATTCAAGACCCTGAGGAAGTATGAGGTACTGCTCCCTCGAATCTGTTTAGATGGGTTTTCTCCTGGCTTTTGGGTAGTTTCATCACATGCATGC... | GATGAGTATTTTGTATTTCTATAAAATACCCTTGAACTTCATTCTTGGACACAGTTACTTTGAAAGAATTGGATACTTTTAGGTCTTGCTTTTATAATTAGTTTGGTAGGACCAGTCCAGCAAATAGTTAGGGCTGACTCTTCCCTACTACTAAGGACCCTTTTGAGTACTATGCCTAAAGCTCCATGAATTGTGAGGTTTTACAGTCTGTCTGGGAGTAGGCACAATTCAAGACCCTGAGGAAGTATGAGGTACTGCTCCCTCGAATCTGTTTAGATGGGTTTTCTCCTGGCTTTTGGGTAGTTTCATCACATGCATGC... | pathogenic | 215,313 |
Regarding the variant found on chromosome 13 at position 50956450 in gene RNASEH2B (ribonuclease H2 subunit B): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CATGCATTATAAATACATATGTGGCCTTTAACATTGGCATTATAATACTCAGTTCTGGGCTTTTTATTTAACATTAAATTGTGAAAATGTTCACATATCATTAAACATTCTTTGAAAAAATATTCATGTTTTTATGATATTCAGTCATGGGTGTTTGTTTCACCATATGGAATGTAATTTAATCATTTCCCTATATTTGGACATATAGGTTACTTCTGATTTTTTTATTTTTTGTTTTTATTGAAGTGATAGACATTCTTATTTACAGTCTGTATCTCCAATCATTTCATTAGACACAATTTTGAACTAAGACTAAGAGC... | CATGCATTATAAATACATATGTGGCCTTTAACATTGGCATTATAATACTCAGTTCTGGGCTTTTTATTTAACATTAAATTGTGAAAATGTTCACATATCATTAAACATTCTTTGAAAAAATATTCATGTTTTTATGATATTCAGTCATGGGTGTTTGTTTCACCATATGGAATGTAATTTAATCATTTCCCTATATTTGGACATATAGGTTACTTCTGATTTTTTTATTTTTTGTTTTTATTGAAGTGATAGACATTCTTATTTACAGTCTGTATCTCCAATCATTTCATTAGACACAATTTTGAACTAAGACTAAGAGC... | benign | 215,338 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 51934778, gene ATP7B (ATPase copper transporting beta). What disease(s) is it linked to if pathogenic? | pathogenic; ['Wilson_disease'] | TGATTATCTGACAAAAAAACTCCTTACACTTTGACCATCTAAAAGGTTATTTTCTATAAAATTATATAAATATTTCCATGTCCATATATGAACACAACGTTTATGGTCCTAAAAGTTTTAAAAATCAACAGAATTAGATTCTTTAGATAATGATCAGCCTAGTCAGAAAACAACATTCCCCAAGCAAGCATAAAGAGAGGACACAATTACTGACGGACAGCGGAAATGTGCTGCGGGCTGGAGTGGGGGGGCTGAAAACAAGGAAAACACAATCAACAGCGCGCTTGGATTTTATAAAATAAAACCCTGCAAAAACTATA... | TGATTATCTGACAAAAAAACTCCTTACACTTTGACCATCTAAAAGGTTATTTTCTATAAAATTATATAAATATTTCCATGTCCATATATGAACACAACGTTTATGGTCCTAAAAGTTTTAAAAATCAACAGAATTAGATTCTTTAGATAATGATCAGCCTAGTCAGAAAACAACATTCCCCAAGCAAGCATAAAGAGAGGACACAATTACTGACGGACAGCGGAAATGTGCTGCGGGCTGGAGTGGGGGGGCTGAAAACAAGGAAAACACAATCAACAGCGCGCTTGGATTTTATAAAATAAAACCCTGCAAAAACTATA... | pathogenic | 215,353 |
Mutation at chromosome 13, position 51934870, within ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Wilson_disease'] | CACAACGTTTATGGTCCTAAAAGTTTTAAAAATCAACAGAATTAGATTCTTTAGATAATGATCAGCCTAGTCAGAAAACAACATTCCCCAAGCAAGCATAAAGAGAGGACACAATTACTGACGGACAGCGGAAATGTGCTGCGGGCTGGAGTGGGGGGGCTGAAAACAAGGAAAACACAATCAACAGCGCGCTTGGATTTTATAAAATAAAACCCTGCAAAAACTATATGTAAAAAGTGAAACTAACCATCCAAGGTGAAGGTCAGATGACCTCCTGAATCAAGTGCATTCTGAGTTGAAACAATGAATAGATCACCTGG... | CACAACGTTTATGGTCCTAAAAGTTTTAAAAATCAACAGAATTAGATTCTTTAGATAATGATCAGCCTAGTCAGAAAACAACATTCCCCAAGCAAGCATAAAGAGAGGACACAATTACTGACGGACAGCGGAAATGTGCTGCGGGCTGGAGTGGGGGGGCTGAAAACAAGGAAAACACAATCAACAGCGCGCTTGGATTTTATAAAATAAAACCCTGCAAAAACTATATGTAAAAAGTGAAACTAACCATCCAAGGTGAAGGTCAGATGACCTCCTGAATCAAGTGCATTCTGAGTTGAAACAATGAATAGATCACCTGG... | pathogenic | 215,368 |
Located at chromosome 13 position 51934955, the variant affecting gene ATP7B (ATPase copper transporting beta)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Wilson_disease'] | CCCCAAGCAAGCATAAAGAGAGGACACAATTACTGACGGACAGCGGAAATGTGCTGCGGGCTGGAGTGGGGGGGCTGAAAACAAGGAAAACACAATCAACAGCGCGCTTGGATTTTATAAAATAAAACCCTGCAAAAACTATATGTAAAAAGTGAAACTAACCATCCAAGGTGAAGGTCAGATGACCTCCTGAATCAAGTGCATTCTGAGTTGAAACAATGAATAGATCACCTGGTAGATTTGTTCTTCCAGGAGGCAAGGACCTTTTCCTCGTTTATTCTTATCAGGAAAACTTCTATTCAAGGTAGAAGGACAATAAG... | CCCCAAGCAAGCATAAAGAGAGGACACAATTACTGACGGACAGCGGAAATGTGCTGCGGGCTGGAGTGGGGGGGCTGAAAACAAGGAAAACACAATCAACAGCGCGCTTGGATTTTATAAAATAAAACCCTGCAAAAACTATATGTAAAAAGTGAAACTAACCATCCAAGGTGAAGGTCAGATGACCTCCTGAATCAAGTGCATTCTGAGTTGAAACAATGAATAGATCACCTGGTAGATTTGTTCTTCCAGGAGGCAAGGACCTTTTCCTCGTTTATTCTTATCAGGAAAACTTCTATTCAAGGTAGAAGGACAATAAG... | pathogenic | 215,372 |
Chromosome 13, position 51934958, gene ATP7B (ATPase copper transporting beta): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Wilson_disease'] | CAAGCAAGCATAAAGAGAGGACACAATTACTGACGGACAGCGGAAATGTGCTGCGGGCTGGAGTGGGGGGGCTGAAAACAAGGAAAACACAATCAACAGCGCGCTTGGATTTTATAAAATAAAACCCTGCAAAAACTATATGTAAAAAGTGAAACTAACCATCCAAGGTGAAGGTCAGATGACCTCCTGAATCAAGTGCATTCTGAGTTGAAACAATGAATAGATCACCTGGTAGATTTGTTCTTCCAGGAGGCAAGGACCTTTTCCTCGTTTATTCTTATCAGGAAAACTTCTATTCAAGGTAGAAGGACAATAAGAGT... | CAAGCAAGCATAAAGAGAGGACACAATTACTGACGGACAGCGGAAATGTGCTGCGGGCTGGAGTGGGGGGGCTGAAAACAAGGAAAACACAATCAACAGCGCGCTTGGATTTTATAAAATAAAACCCTGCAAAAACTATATGTAAAAAGTGAAACTAACCATCCAAGGTGAAGGTCAGATGACCTCCTGAATCAAGTGCATTCTGAGTTGAAACAATGAATAGATCACCTGGTAGATTTGTTCTTCCAGGAGGCAAGGACCTTTTCCTCGTTTATTCTTATCAGGAAAACTTCTATTCAAGGTAGAAGGACAATAAGAGT... | pathogenic | 215,373 |
Is chromosome 13, position 51935001, gene ATP7B (ATPase copper transporting beta) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Wilson_disease'] | AAATGTGCTGCGGGCTGGAGTGGGGGGGCTGAAAACAAGGAAAACACAATCAACAGCGCGCTTGGATTTTATAAAATAAAACCCTGCAAAAACTATATGTAAAAAGTGAAACTAACCATCCAAGGTGAAGGTCAGATGACCTCCTGAATCAAGTGCATTCTGAGTTGAAACAATGAATAGATCACCTGGTAGATTTGTTCTTCCAGGAGGCAAGGACCTTTTCCTCGTTTATTCTTATCAGGAAAACTTCTATTCAAGGTAGAAGGACAATAAGAGTGAAGCCTTCACAGCTGACAGACACTGCTTGTCCATTGGCTATG... | AAATGTGCTGCGGGCTGGAGTGGGGGGGCTGAAAACAAGGAAAACACAATCAACAGCGCGCTTGGATTTTATAAAATAAAACCCTGCAAAAACTATATGTAAAAAGTGAAACTAACCATCCAAGGTGAAGGTCAGATGACCTCCTGAATCAAGTGCATTCTGAGTTGAAACAATGAATAGATCACCTGGTAGATTTGTTCTTCCAGGAGGCAAGGACCTTTTCCTCGTTTATTCTTATCAGGAAAACTTCTATTCAAGGTAGAAGGACAATAAGAGTGAAGCCTTCACAGCTGACAGACACTGCTTGTCCATTGGCTATG... | pathogenic | 215,379 |
The mutation impacting ATP7B (ATPase copper transporting beta) on chromosome 13 at position 51935003: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Wilson_disease'] | ATGTGCTGCGGGCTGGAGTGGGGGGGCTGAAAACAAGGAAAACACAATCAACAGCGCGCTTGGATTTTATAAAATAAAACCCTGCAAAAACTATATGTAAAAAGTGAAACTAACCATCCAAGGTGAAGGTCAGATGACCTCCTGAATCAAGTGCATTCTGAGTTGAAACAATGAATAGATCACCTGGTAGATTTGTTCTTCCAGGAGGCAAGGACCTTTTCCTCGTTTATTCTTATCAGGAAAACTTCTATTCAAGGTAGAAGGACAATAAGAGTGAAGCCTTCACAGCTGACAGACACTGCTTGTCCATTGGCTATGTC... | ATGTGCTGCGGGCTGGAGTGGGGGGGCTGAAAACAAGGAAAACACAATCAACAGCGCGCTTGGATTTTATAAAATAAAACCCTGCAAAAACTATATGTAAAAAGTGAAACTAACCATCCAAGGTGAAGGTCAGATGACCTCCTGAATCAAGTGCATTCTGAGTTGAAACAATGAATAGATCACCTGGTAGATTTGTTCTTCCAGGAGGCAAGGACCTTTTCCTCGTTTATTCTTATCAGGAAAACTTCTATTCAAGGTAGAAGGACAATAAGAGTGAAGCCTTCACAGCTGACAGACACTGCTTGTCCATTGGCTATGTC... | pathogenic | 215,380 |
The genetic variant at chromosome 13, position 51935623, affecting gene ATP7B (ATPase copper transporting beta): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Wilson_disease'] | CCAGGTAAACAGATGCTCCCTTCGGGGTGCTGTGGCCACTCCTTTTCTGAAGCCCCTGGGCAGCGTGCAGAATGCAGGCTCAGGGAGGCTGTGTTTTCCTCCTATTTGGGCAGTACCATTTCCTCCAAGCCACACAAGGCCAGGCGCTAGTCACATGAATTCTCTACTGAACCCCACGAGGTGACAGTCAGAAGACTGAAAACGAAGCCCCTTGGGCCGTGCAGGGAGGCTCCTGCACACATACGTTTCCCATGGGGCAAACGTTTCAAGCACCACAGGCTGGGCAGGGATATGGAAGGACGTCCTGAATCGCGAGAACC... | CCAGGTAAACAGATGCTCCCTTCGGGGTGCTGTGGCCACTCCTTTTCTGAAGCCCCTGGGCAGCGTGCAGAATGCAGGCTCAGGGAGGCTGTGTTTTCCTCCTATTTGGGCAGTACCATTTCCTCCAAGCCACACAAGGCCAGGCGCTAGTCACATGAATTCTCTACTGAACCCCACGAGGTGACAGTCAGAAGACTGAAAACGAAGCCCCTTGGGCCGTGCAGGGAGGCTCCTGCACACATACGTTTCCCATGGGGCAAACGTTTCAAGCACCACAGGCTGGGCAGGGATATGGAAGGACGTCCTGAATCGCGAGAACC... | pathogenic | 215,391 |
The chromosome 13, position 51937290 genetic variant in gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Wilson_disease'] | GCTGCCACTAACTTTTGTTAAATGAATGCACTCATAAATAAGTGAACATCTTTTTTAAATAAAAAAGTGATAGATCATACACAGGGACCCATGTCTGCTTGATGTTCACATAAACAGCCCTTGAGGAGCAGAGTAAGGGCAGCCCAGCACGTGAATGGGCAGCAGTGAATTGCCTGCTCATGGTGCTGATAAGTTACATGCATGCACACCAGGCTCCATGTGGGCTGCCACTGCAGCATTTGTCCCAGGTGAATGAATGGGAAATGAGAGGCAAGTTCCACTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCC... | GCTGCCACTAACTTTTGTTAAATGAATGCACTCATAAATAAGTGAACATCTTTTTTAAATAAAAAAGTGATAGATCATACACAGGGACCCATGTCTGCTTGATGTTCACATAAACAGCCCTTGAGGAGCAGAGTAAGGGCAGCCCAGCACGTGAATGGGCAGCAGTGAATTGCCTGCTCATGGTGCTGATAAGTTACATGCATGCACACCAGGCTCCATGTGGGCTGCCACTGCAGCATTTGTCCCAGGTGAATGAATGGGAAATGAGAGGCAAGTTCCACTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCC... | pathogenic | 215,410 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 51937303, gene ATP7B (ATPase copper transporting beta). What disease(s) is it linked to if pathogenic? | pathogenic; ['Wilson_disease'] | TTTGTTAAATGAATGCACTCATAAATAAGTGAACATCTTTTTTAAATAAAAAAGTGATAGATCATACACAGGGACCCATGTCTGCTTGATGTTCACATAAACAGCCCTTGAGGAGCAGAGTAAGGGCAGCCCAGCACGTGAATGGGCAGCAGTGAATTGCCTGCTCATGGTGCTGATAAGTTACATGCATGCACACCAGGCTCCATGTGGGCTGCCACTGCAGCATTTGTCCCAGGTGAATGAATGGGAAATGAGAGGCAAGTTCCACTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCCTCCCACAGATGCT... | TTTGTTAAATGAATGCACTCATAAATAAGTGAACATCTTTTTTAAATAAAAAAGTGATAGATCATACACAGGGACCCATGTCTGCTTGATGTTCACATAAACAGCCCTTGAGGAGCAGAGTAAGGGCAGCCCAGCACGTGAATGGGCAGCAGTGAATTGCCTGCTCATGGTGCTGATAAGTTACATGCATGCACACCAGGCTCCATGTGGGCTGCCACTGCAGCATTTGTCCCAGGTGAATGAATGGGAAATGAGAGGCAAGTTCCACTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCCTCCCACAGATGCT... | pathogenic | 215,411 |
Is the genetic mutation found on chromosome 13 at position 51937322, within the gene ATP7B (ATPase copper transporting beta), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Wilson_disease'] | CATAAATAAGTGAACATCTTTTTTAAATAAAAAAGTGATAGATCATACACAGGGACCCATGTCTGCTTGATGTTCACATAAACAGCCCTTGAGGAGCAGAGTAAGGGCAGCCCAGCACGTGAATGGGCAGCAGTGAATTGCCTGCTCATGGTGCTGATAAGTTACATGCATGCACACCAGGCTCCATGTGGGCTGCCACTGCAGCATTTGTCCCAGGTGAATGAATGGGAAATGAGAGGCAAGTTCCACTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCCTCCCACAGATGCTCCACCTGAGGGGACTCACC... | CATAAATAAGTGAACATCTTTTTTAAATAAAAAAGTGATAGATCATACACAGGGACCCATGTCTGCTTGATGTTCACATAAACAGCCCTTGAGGAGCAGAGTAAGGGCAGCCCAGCACGTGAATGGGCAGCAGTGAATTGCCTGCTCATGGTGCTGATAAGTTACATGCATGCACACCAGGCTCCATGTGGGCTGCCACTGCAGCATTTGTCCCAGGTGAATGAATGGGAAATGAGAGGCAAGTTCCACTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCCTCCCACAGATGCTCCACCTGAGGGGACTCACC... | pathogenic | 215,413 |
The mutation impacting ATP7B (ATPase copper transporting beta) on chromosome 13 at position 51937332: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Wilson_disease'] | TGAACATCTTTTTTAAATAAAAAAGTGATAGATCATACACAGGGACCCATGTCTGCTTGATGTTCACATAAACAGCCCTTGAGGAGCAGAGTAAGGGCAGCCCAGCACGTGAATGGGCAGCAGTGAATTGCCTGCTCATGGTGCTGATAAGTTACATGCATGCACACCAGGCTCCATGTGGGCTGCCACTGCAGCATTTGTCCCAGGTGAATGAATGGGAAATGAGAGGCAAGTTCCACTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCCTCCCACAGATGCTCCACCTGAGGGGACTCACCACTTGAGCTG... | TGAACATCTTTTTTAAATAAAAAAGTGATAGATCATACACAGGGACCCATGTCTGCTTGATGTTCACATAAACAGCCCTTGAGGAGCAGAGTAAGGGCAGCCCAGCACGTGAATGGGCAGCAGTGAATTGCCTGCTCATGGTGCTGATAAGTTACATGCATGCACACCAGGCTCCATGTGGGCTGCCACTGCAGCATTTGTCCCAGGTGAATGAATGGGAAATGAGAGGCAAGTTCCACTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCCTCCCACAGATGCTCCACCTGAGGGGACTCACCACTTGAGCTG... | pathogenic | 215,415 |
Is the genetic variant on chromosome 13, position 51937353, gene ATP7B (ATPase copper transporting beta), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Wilson_disease'] | AAAGTGATAGATCATACACAGGGACCCATGTCTGCTTGATGTTCACATAAACAGCCCTTGAGGAGCAGAGTAAGGGCAGCCCAGCACGTGAATGGGCAGCAGTGAATTGCCTGCTCATGGTGCTGATAAGTTACATGCATGCACACCAGGCTCCATGTGGGCTGCCACTGCAGCATTTGTCCCAGGTGAATGAATGGGAAATGAGAGGCAAGTTCCACTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCCTCCCACAGATGCTCCACCTGAGGGGACTCACCACTTGAGCTGCAGGGATGAGAGCACCACAGA... | AAAGTGATAGATCATACACAGGGACCCATGTCTGCTTGATGTTCACATAAACAGCCCTTGAGGAGCAGAGTAAGGGCAGCCCAGCACGTGAATGGGCAGCAGTGAATTGCCTGCTCATGGTGCTGATAAGTTACATGCATGCACACCAGGCTCCATGTGGGCTGCCACTGCAGCATTTGTCCCAGGTGAATGAATGGGAAATGAGAGGCAAGTTCCACTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCCTCCCACAGATGCTCCACCTGAGGGGACTCACCACTTGAGCTGCAGGGATGAGAGCACCACAGA... | pathogenic | 215,419 |
Gene ATP7B (ATPase copper transporting beta) variant at chromosome position 51937394 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Wilson_disease'] | TTCACATAAACAGCCCTTGAGGAGCAGAGTAAGGGCAGCCCAGCACGTGAATGGGCAGCAGTGAATTGCCTGCTCATGGTGCTGATAAGTTACATGCATGCACACCAGGCTCCATGTGGGCTGCCACTGCAGCATTTGTCCCAGGTGAATGAATGGGAAATGAGAGGCAAGTTCCACTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCCTCCCACAGATGCTCCACCTGAGGGGACTCACCACTTGAGCTGCAGGGATGAGAGCACCACAGACACAGAGGAGGCTGCCATGGCCGCTGAGCCCATCCAGGGCT... | TTCACATAAACAGCCCTTGAGGAGCAGAGTAAGGGCAGCCCAGCACGTGAATGGGCAGCAGTGAATTGCCTGCTCATGGTGCTGATAAGTTACATGCATGCACACCAGGCTCCATGTGGGCTGCCACTGCAGCATTTGTCCCAGGTGAATGAATGGGAAATGAGAGGCAAGTTCCACTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCCTCCCACAGATGCTCCACCTGAGGGGACTCACCACTTGAGCTGCAGGGATGAGAGCACCACAGACACAGAGGAGGCTGCCATGGCCGCTGAGCCCATCCAGGGCT... | pathogenic | 215,424 |
Located at chromosome 13 position 51937483, the variant affecting gene ATP7B (ATPase copper transporting beta)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Wilson_disease'] | TTACATGCATGCACACCAGGCTCCATGTGGGCTGCCACTGCAGCATTTGTCCCAGGTGAATGAATGGGAAATGAGAGGCAAGTTCCACTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCCTCCCACAGATGCTCCACCTGAGGGGACTCACCACTTGAGCTGCAGGGATGAGAGCACCACAGACACAGAGGAGGCTGCCATGGCCGCTGAGCCCATCCAGGGCTGCAGCACAATGCCGATGGGCATGAAGACACCTGGGGAAGAAAGAACTCGCACTCACACCTAGGTCTGGGGAGAGGAGCCAGGAGAGGGC... | TTACATGCATGCACACCAGGCTCCATGTGGGCTGCCACTGCAGCATTTGTCCCAGGTGAATGAATGGGAAATGAGAGGCAAGTTCCACTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCCTCCCACAGATGCTCCACCTGAGGGGACTCACCACTTGAGCTGCAGGGATGAGAGCACCACAGACACAGAGGAGGCTGCCATGGCCGCTGAGCCCATCCAGGGCTGCAGCACAATGCCGATGGGCATGAAGACACCTGGGGAAGAAAGAACTCGCACTCACACCTAGGTCTGGGGAGAGGAGCCAGGAGAGGGC... | pathogenic | 215,427 |
Variant on chromosome 13, at position 51937533, affecting ATP7B (ATPase copper transporting beta): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Wilson_disease'] | CCCAGGTGAATGAATGGGAAATGAGAGGCAAGTTCCACTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCCTCCCACAGATGCTCCACCTGAGGGGACTCACCACTTGAGCTGCAGGGATGAGAGCACCACAGACACAGAGGAGGCTGCCATGGCCGCTGAGCCCATCCAGGGCTGCAGCACAATGCCGATGGGCATGAAGACACCTGGGGAAGAAAGAACTCGCACTCACACCTAGGTCTGGGGAGAGGAGCCAGGAGAGGGCTTCAGGCACCGGGCTGCCCCACCCTCAGCGGCCCCCAGTGAGGTCTCCAC... | CCCAGGTGAATGAATGGGAAATGAGAGGCAAGTTCCACTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCCTCCCACAGATGCTCCACCTGAGGGGACTCACCACTTGAGCTGCAGGGATGAGAGCACCACAGACACAGAGGAGGCTGCCATGGCCGCTGAGCCCATCCAGGGCTGCAGCACAATGCCGATGGGCATGAAGACACCTGGGGAAGAAAGAACTCGCACTCACACCTAGGTCTGGGGAGAGGAGCCAGGAGAGGGCTTCAGGCACCGGGCTGCCCCACCCTCAGCGGCCCCCAGTGAGGTCTCCAC... | pathogenic | 215,439 |
Variant at chromosome position 51937535, chromosome 13, gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Wilson_disease'] | CAGGTGAATGAATGGGAAATGAGAGGCAAGTTCCACTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCCTCCCACAGATGCTCCACCTGAGGGGACTCACCACTTGAGCTGCAGGGATGAGAGCACCACAGACACAGAGGAGGCTGCCATGGCCGCTGAGCCCATCCAGGGCTGCAGCACAATGCCGATGGGCATGAAGACACCTGGGGAAGAAAGAACTCGCACTCACACCTAGGTCTGGGGAGAGGAGCCAGGAGAGGGCTTCAGGCACCGGGCTGCCCCACCCTCAGCGGCCCCCAGTGAGGTCTCCACCT... | CAGGTGAATGAATGGGAAATGAGAGGCAAGTTCCACTGTGCTAAGCATGCAGAATGACAAGGCCTCCTGGGAGCCTCCCACAGATGCTCCACCTGAGGGGACTCACCACTTGAGCTGCAGGGATGAGAGCACCACAGACACAGAGGAGGCTGCCATGGCCGCTGAGCCCATCCAGGGCTGCAGCACAATGCCGATGGGCATGAAGACACCTGGGGAAGAAAGAACTCGCACTCACACCTAGGTCTGGGGAGAGGAGCCAGGAGAGGGCTTCAGGCACCGGGCTGCCCCACCCTCAGCGGCCCCCAGTGAGGTCTCCACCT... | pathogenic | 215,440 |
Benign or pathogenic: chromosome 13, position 51937611, gene ATP7B (ATPase copper transporting beta) variant? Disease(s) if pathogenic? | pathogenic; ['Wilson_disease'] | CCCACAGATGCTCCACCTGAGGGGACTCACCACTTGAGCTGCAGGGATGAGAGCACCACAGACACAGAGGAGGCTGCCATGGCCGCTGAGCCCATCCAGGGCTGCAGCACAATGCCGATGGGCATGAAGACACCTGGGGAAGAAAGAACTCGCACTCACACCTAGGTCTGGGGAGAGGAGCCAGGAGAGGGCTTCAGGCACCGGGCTGCCCCACCCTCAGCGGCCCCCAGTGAGGTCTCCACCTGGCGTGCTCAGAAGCCCCTGCCAATGGATCTTGCCCACAGGCCCCCCCCAAAGTGAGGCTTCCTAGAAAGCTGGGT... | CCCACAGATGCTCCACCTGAGGGGACTCACCACTTGAGCTGCAGGGATGAGAGCACCACAGACACAGAGGAGGCTGCCATGGCCGCTGAGCCCATCCAGGGCTGCAGCACAATGCCGATGGGCATGAAGACACCTGGGGAAGAAAGAACTCGCACTCACACCTAGGTCTGGGGAGAGGAGCCAGGAGAGGGCTTCAGGCACCGGGCTGCCCCACCCTCAGCGGCCCCCAGTGAGGTCTCCACCTGGCGTGCTCAGAAGCCCCTGCCAATGGATCTTGCCCACAGGCCCCCCCCAAAGTGAGGCTTCCTAGAAAGCTGGGT... | pathogenic | 215,454 |
Variant in ATP7B (ATPase copper transporting beta), chromosome 13, position 51937636—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Wilson_disease'] | CTCACCACTTGAGCTGCAGGGATGAGAGCACCACAGACACAGAGGAGGCTGCCATGGCCGCTGAGCCCATCCAGGGCTGCAGCACAATGCCGATGGGCATGAAGACACCTGGGGAAGAAAGAACTCGCACTCACACCTAGGTCTGGGGAGAGGAGCCAGGAGAGGGCTTCAGGCACCGGGCTGCCCCACCCTCAGCGGCCCCCAGTGAGGTCTCCACCTGGCGTGCTCAGAAGCCCCTGCCAATGGATCTTGCCCACAGGCCCCCCCCAAAGTGAGGCTTCCTAGAAAGCTGGGTGTGGGATGCTGTTGAGTGGGCCTGG... | CTCACCACTTGAGCTGCAGGGATGAGAGCACCACAGACACAGAGGAGGCTGCCATGGCCGCTGAGCCCATCCAGGGCTGCAGCACAATGCCGATGGGCATGAAGACACCTGGGGAAGAAAGAACTCGCACTCACACCTAGGTCTGGGGAGAGGAGCCAGGAGAGGGCTTCAGGCACCGGGCTGCCCCACCCTCAGCGGCCCCCAGTGAGGTCTCCACCTGGCGTGCTCAGAAGCCCCTGCCAATGGATCTTGCCCACAGGCCCCCCCCAAAGTGAGGCTTCCTAGAAAGCTGGGTGTGGGATGCTGTTGAGTGGGCCTGG... | pathogenic | 215,457 |
Clinically, how would you classify the variant at chromosome 13, position 51937671, gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Wilson_disease'] | GACACAGAGGAGGCTGCCATGGCCGCTGAGCCCATCCAGGGCTGCAGCACAATGCCGATGGGCATGAAGACACCTGGGGAAGAAAGAACTCGCACTCACACCTAGGTCTGGGGAGAGGAGCCAGGAGAGGGCTTCAGGCACCGGGCTGCCCCACCCTCAGCGGCCCCCAGTGAGGTCTCCACCTGGCGTGCTCAGAAGCCCCTGCCAATGGATCTTGCCCACAGGCCCCCCCCAAAGTGAGGCTTCCTAGAAAGCTGGGTGTGGGATGCTGTTGAGTGGGCCTGGCTCTCTTCCACTCGCCCTGATGTTCCCAGAACCAC... | GACACAGAGGAGGCTGCCATGGCCGCTGAGCCCATCCAGGGCTGCAGCACAATGCCGATGGGCATGAAGACACCTGGGGAAGAAAGAACTCGCACTCACACCTAGGTCTGGGGAGAGGAGCCAGGAGAGGGCTTCAGGCACCGGGCTGCCCCACCCTCAGCGGCCCCCAGTGAGGTCTCCACCTGGCGTGCTCAGAAGCCCCTGCCAATGGATCTTGCCCACAGGCCCCCCCCAAAGTGAGGCTTCCTAGAAAGCTGGGTGTGGGATGCTGTTGAGTGGGCCTGGCTCTCTTCCACTCGCCCTGATGTTCCCAGAACCAC... | pathogenic | 215,463 |
Benign or pathogenic: chromosome 13, position 51937678, gene ATP7B (ATPase copper transporting beta) variant? Disease(s) if pathogenic? | pathogenic; ['Wilson_disease'] | AGGAGGCTGCCATGGCCGCTGAGCCCATCCAGGGCTGCAGCACAATGCCGATGGGCATGAAGACACCTGGGGAAGAAAGAACTCGCACTCACACCTAGGTCTGGGGAGAGGAGCCAGGAGAGGGCTTCAGGCACCGGGCTGCCCCACCCTCAGCGGCCCCCAGTGAGGTCTCCACCTGGCGTGCTCAGAAGCCCCTGCCAATGGATCTTGCCCACAGGCCCCCCCCAAAGTGAGGCTTCCTAGAAAGCTGGGTGTGGGATGCTGTTGAGTGGGCCTGGCTCTCTTCCACTCGCCCTGATGTTCCCAGAACCACCCACAGG... | AGGAGGCTGCCATGGCCGCTGAGCCCATCCAGGGCTGCAGCACAATGCCGATGGGCATGAAGACACCTGGGGAAGAAAGAACTCGCACTCACACCTAGGTCTGGGGAGAGGAGCCAGGAGAGGGCTTCAGGCACCGGGCTGCCCCACCCTCAGCGGCCCCCAGTGAGGTCTCCACCTGGCGTGCTCAGAAGCCCCTGCCAATGGATCTTGCCCACAGGCCCCCCCCAAAGTGAGGCTTCCTAGAAAGCTGGGTGTGGGATGCTGTTGAGTGGGCCTGGCTCTCTTCCACTCGCCCTGATGTTCCCAGAACCACCCACAGG... | pathogenic | 215,464 |
Mutation found at chromosome 13 position 51939053, gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Wilson_disease'] | AAGGCCACAATAAAATAGGGATCAGAAAATACAGCCAAGCATCTCCACTAGCTTTTTAGAAAGGACCAGAGTGAATGAAGGTTTCAGGTCCTCTCCACAGTTTCTCATTTAAAGACATATAAAGCAGGGGACATGAAAAAAAAAAAAAAACAGCCTTTCTAAAACGCCTCTAGCCAGCCAGTGAGTGAGCCACTCACTAACCCCAGCAGGAACCTGGGAGACAGAAGCCTTTCTGGGCGCAGCTGGAGCACAGTGGGTAAGAGCTGCCTACCTGCTGCAATGGGTATCCCAACCAGGTTATAAATCAGTGCCAGGACCAG... | AAGGCCACAATAAAATAGGGATCAGAAAATACAGCCAAGCATCTCCACTAGCTTTTTAGAAAGGACCAGAGTGAATGAAGGTTTCAGGTCCTCTCCACAGTTTCTCATTTAAAGACATATAAAGCAGGGGACATGAAAAAAAAAAAAAAACAGCCTTTCTAAAACGCCTCTAGCCAGCCAGTGAGTGAGCCACTCACTAACCCCAGCAGGAACCTGGGAGACAGAAGCCTTTCTGGGCGCAGCTGGAGCACAGTGGGTAAGAGCTGCCTACCTGCTGCAATGGGTATCCCAACCAGGTTATAAATCAGTGCCAGGACCAG... | pathogenic | 215,469 |
Determine whether the variant at chromosome 13, position 51939075, in gene ATP7B (ATPase copper transporting beta) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Wilson_disease'] | CAGAAAATACAGCCAAGCATCTCCACTAGCTTTTTAGAAAGGACCAGAGTGAATGAAGGTTTCAGGTCCTCTCCACAGTTTCTCATTTAAAGACATATAAAGCAGGGGACATGAAAAAAAAAAAAAAACAGCCTTTCTAAAACGCCTCTAGCCAGCCAGTGAGTGAGCCACTCACTAACCCCAGCAGGAACCTGGGAGACAGAAGCCTTTCTGGGCGCAGCTGGAGCACAGTGGGTAAGAGCTGCCTACCTGCTGCAATGGGTATCCCAACCAGGTTATAAATCAGTGCCAGGACCAGGTTGATGCGTATCCTTCGGACA... | CAGAAAATACAGCCAAGCATCTCCACTAGCTTTTTAGAAAGGACCAGAGTGAATGAAGGTTTCAGGTCCTCTCCACAGTTTCTCATTTAAAGACATATAAAGCAGGGGACATGAAAAAAAAAAAAAAACAGCCTTTCTAAAACGCCTCTAGCCAGCCAGTGAGTGAGCCACTCACTAACCCCAGCAGGAACCTGGGAGACAGAAGCCTTTCTGGGCGCAGCTGGAGCACAGTGGGTAAGAGCTGCCTACCTGCTGCAATGGGTATCCCAACCAGGTTATAAATCAGTGCCAGGACCAGGTTGATGCGTATCCTTCGGACA... | pathogenic | 215,472 |
Chromosome 13, position 51939085, gene ATP7B (ATPase copper transporting beta): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Wilson_disease'] | AGCCAAGCATCTCCACTAGCTTTTTAGAAAGGACCAGAGTGAATGAAGGTTTCAGGTCCTCTCCACAGTTTCTCATTTAAAGACATATAAAGCAGGGGACATGAAAAAAAAAAAAAAACAGCCTTTCTAAAACGCCTCTAGCCAGCCAGTGAGTGAGCCACTCACTAACCCCAGCAGGAACCTGGGAGACAGAAGCCTTTCTGGGCGCAGCTGGAGCACAGTGGGTAAGAGCTGCCTACCTGCTGCAATGGGTATCCCAACCAGGTTATAAATCAGTGCCAGGACCAGGTTGATGCGTATCCTTCGGACAGTCCTCTTGG... | AGCCAAGCATCTCCACTAGCTTTTTAGAAAGGACCAGAGTGAATGAAGGTTTCAGGTCCTCTCCACAGTTTCTCATTTAAAGACATATAAAGCAGGGGACATGAAAAAAAAAAAAAAACAGCCTTTCTAAAACGCCTCTAGCCAGCCAGTGAGTGAGCCACTCACTAACCCCAGCAGGAACCTGGGAGACAGAAGCCTTTCTGGGCGCAGCTGGAGCACAGTGGGTAAGAGCTGCCTACCTGCTGCAATGGGTATCCCAACCAGGTTATAAATCAGTGCCAGGACCAGGTTGATGCGTATCCTTCGGACAGTCCTCTTGG... | pathogenic | 215,473 |
Does the genetic variant at chromosome 13, position 51939085, impacting gene ATP7B (ATPase copper transporting beta), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Wilson_disease'] | AGCCAAGCATCTCCACTAGCTTTTTAGAAAGGACCAGAGTGAATGAAGGTTTCAGGTCCTCTCCACAGTTTCTCATTTAAAGACATATAAAGCAGGGGACATGAAAAAAAAAAAAAAACAGCCTTTCTAAAACGCCTCTAGCCAGCCAGTGAGTGAGCCACTCACTAACCCCAGCAGGAACCTGGGAGACAGAAGCCTTTCTGGGCGCAGCTGGAGCACAGTGGGTAAGAGCTGCCTACCTGCTGCAATGGGTATCCCAACCAGGTTATAAATCAGTGCCAGGACCAGGTTGATGCGTATCCTTCGGACAGTCCTCTTGG... | AGCCAAGCATCTCCACTAGCTTTTTAGAAAGGACCAGAGTGAATGAAGGTTTCAGGTCCTCTCCACAGTTTCTCATTTAAAGACATATAAAGCAGGGGACATGAAAAAAAAAAAAAAACAGCCTTTCTAAAACGCCTCTAGCCAGCCAGTGAGTGAGCCACTCACTAACCCCAGCAGGAACCTGGGAGACAGAAGCCTTTCTGGGCGCAGCTGGAGCACAGTGGGTAAGAGCTGCCTACCTGCTGCAATGGGTATCCCAACCAGGTTATAAATCAGTGCCAGGACCAGGTTGATGCGTATCCTTCGGACAGTCCTCTTGG... | pathogenic | 215,474 |
Is the chromosome 13, position 51939095 variant in ATP7B (ATPase copper transporting beta) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Wilson_disease'] | CTCCACTAGCTTTTTAGAAAGGACCAGAGTGAATGAAGGTTTCAGGTCCTCTCCACAGTTTCTCATTTAAAGACATATAAAGCAGGGGACATGAAAAAAAAAAAAAAACAGCCTTTCTAAAACGCCTCTAGCCAGCCAGTGAGTGAGCCACTCACTAACCCCAGCAGGAACCTGGGAGACAGAAGCCTTTCTGGGCGCAGCTGGAGCACAGTGGGTAAGAGCTGCCTACCTGCTGCAATGGGTATCCCAACCAGGTTATAAATCAGTGCCAGGACCAGGTTGATGCGTATCCTTCGGACAGTCCTCTTGGAAAGGTGAAT... | CTCCACTAGCTTTTTAGAAAGGACCAGAGTGAATGAAGGTTTCAGGTCCTCTCCACAGTTTCTCATTTAAAGACATATAAAGCAGGGGACATGAAAAAAAAAAAAAAACAGCCTTTCTAAAACGCCTCTAGCCAGCCAGTGAGTGAGCCACTCACTAACCCCAGCAGGAACCTGGGAGACAGAAGCCTTTCTGGGCGCAGCTGGAGCACAGTGGGTAAGAGCTGCCTACCTGCTGCAATGGGTATCCCAACCAGGTTATAAATCAGTGCCAGGACCAGGTTGATGCGTATCCTTCGGACAGTCCTCTTGGAAAGGTGAAT... | pathogenic | 215,479 |
For chromosome 13, position 51939161, gene ATP7B (ATPase copper transporting beta): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Wilson_disease'] | TTAAAGACATATAAAGCAGGGGACATGAAAAAAAAAAAAAAACAGCCTTTCTAAAACGCCTCTAGCCAGCCAGTGAGTGAGCCACTCACTAACCCCAGCAGGAACCTGGGAGACAGAAGCCTTTCTGGGCGCAGCTGGAGCACAGTGGGTAAGAGCTGCCTACCTGCTGCAATGGGTATCCCAACCAGGTTATAAATCAGTGCCAGGACCAGGTTGATGCGTATCCTTCGGACAGTCCTCTTGGAAAGGTGAATGCTAGCCACCACATCCAGCAAATCATTCTGATGGAGAGGAGCACACAGTGAGGAAGGGGTCTGCCC... | TTAAAGACATATAAAGCAGGGGACATGAAAAAAAAAAAAAAACAGCCTTTCTAAAACGCCTCTAGCCAGCCAGTGAGTGAGCCACTCACTAACCCCAGCAGGAACCTGGGAGACAGAAGCCTTTCTGGGCGCAGCTGGAGCACAGTGGGTAAGAGCTGCCTACCTGCTGCAATGGGTATCCCAACCAGGTTATAAATCAGTGCCAGGACCAGGTTGATGCGTATCCTTCGGACAGTCCTCTTGGAAAGGTGAATGCTAGCCACCACATCCAGCAAATCATTCTGATGGAGAGGAGCACACAGTGAGGAAGGGGTCTGCCC... | pathogenic | 215,487 |
Variant at chromosome position 51939188, chromosome 13, gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Wilson_disease'] | AAAAAAAAAAAAAAACAGCCTTTCTAAAACGCCTCTAGCCAGCCAGTGAGTGAGCCACTCACTAACCCCAGCAGGAACCTGGGAGACAGAAGCCTTTCTGGGCGCAGCTGGAGCACAGTGGGTAAGAGCTGCCTACCTGCTGCAATGGGTATCCCAACCAGGTTATAAATCAGTGCCAGGACCAGGTTGATGCGTATCCTTCGGACAGTCCTCTTGGAAAGGTGAATGCTAGCCACCACATCCAGCAAATCATTCTGATGGAGAGGAGCACACAGTGAGGAAGGGGTCTGCCCATTGCCCTCCCAGCACCCACAGCCTGG... | AAAAAAAAAAAAAAACAGCCTTTCTAAAACGCCTCTAGCCAGCCAGTGAGTGAGCCACTCACTAACCCCAGCAGGAACCTGGGAGACAGAAGCCTTTCTGGGCGCAGCTGGAGCACAGTGGGTAAGAGCTGCCTACCTGCTGCAATGGGTATCCCAACCAGGTTATAAATCAGTGCCAGGACCAGGTTGATGCGTATCCTTCGGACAGTCCTCTTGGAAAGGTGAATGCTAGCCACCACATCCAGCAAATCATTCTGATGGAGAGGAGCACACAGTGAGGAAGGGGTCTGCCCATTGCCCTCCCAGCACCCACAGCCTGG... | pathogenic | 215,491 |
Is the genetic change at chromosome 13, position 51941084, within gene ATP7B (ATPase copper transporting beta) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Wilson_disease'] | ATTAAAGGGCTGTACCTGGGTGGCAATAGCTCTGGCTGTCTTCCGGTTGTCCCCCGTGATCAGAACCACGTCCACACCCATGCTCTGCAGCGTGTGCACAGCCAGGGCAGCCTCCTGCTTGACAGCGTCTGCGATTGCGATCATCCCACAGAGCACACCTGGAGCGAACCAGCCAGCATCAGCAGCTACACAAGTTGGGGCACCCCGCACCAAGATACCACACTTGCAATGTTCTCATCATATAATATTATGTGCAAAAAACAAAACATCAAATTATATAACACAATGTGGTTTTTTTGCTTTTTAAAAAGTACATGCAT... | ATTAAAGGGCTGTACCTGGGTGGCAATAGCTCTGGCTGTCTTCCGGTTGTCCCCCGTGATCAGAACCACGTCCACACCCATGCTCTGCAGCGTGTGCACAGCCAGGGCAGCCTCCTGCTTGACAGCGTCTGCGATTGCGATCATCCCACAGAGCACACCTGGAGCGAACCAGCCAGCATCAGCAGCTACACAAGTTGGGGCACCCCGCACCAAGATACCACACTTGCAATGTTCTCATCATATAATATTATGTGCAAAAAACAAAACATCAAATTATATAACACAATGTGGTTTTTTTGCTTTTTAAAAAGTACATGCAT... | pathogenic | 215,501 |
Clinical significance of chromosome 13, position 51941088, gene ATP7B (ATPase copper transporting beta): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Wilson_disease'] | AAGGGCTGTACCTGGGTGGCAATAGCTCTGGCTGTCTTCCGGTTGTCCCCCGTGATCAGAACCACGTCCACACCCATGCTCTGCAGCGTGTGCACAGCCAGGGCAGCCTCCTGCTTGACAGCGTCTGCGATTGCGATCATCCCACAGAGCACACCTGGAGCGAACCAGCCAGCATCAGCAGCTACACAAGTTGGGGCACCCCGCACCAAGATACCACACTTGCAATGTTCTCATCATATAATATTATGTGCAAAAAACAAAACATCAAATTATATAACACAATGTGGTTTTTTTGCTTTTTAAAAAGTACATGCATTTAC... | AAGGGCTGTACCTGGGTGGCAATAGCTCTGGCTGTCTTCCGGTTGTCCCCCGTGATCAGAACCACGTCCACACCCATGCTCTGCAGCGTGTGCACAGCCAGGGCAGCCTCCTGCTTGACAGCGTCTGCGATTGCGATCATCCCACAGAGCACACCTGGAGCGAACCAGCCAGCATCAGCAGCTACACAAGTTGGGGCACCCCGCACCAAGATACCACACTTGCAATGTTCTCATCATATAATATTATGTGCAAAAAACAAAACATCAAATTATATAACACAATGTGGTTTTTTTGCTTTTTAAAAAGTACATGCATTTAC... | pathogenic | 215,502 |
Clinical classification of chromosome 13, position 51941154, gene ATP7B (ATPase copper transporting beta): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Wilson_disease'] | TCCACACCCATGCTCTGCAGCGTGTGCACAGCCAGGGCAGCCTCCTGCTTGACAGCGTCTGCGATTGCGATCATCCCACAGAGCACACCTGGAGCGAACCAGCCAGCATCAGCAGCTACACAAGTTGGGGCACCCCGCACCAAGATACCACACTTGCAATGTTCTCATCATATAATATTATGTGCAAAAAACAAAACATCAAATTATATAACACAATGTGGTTTTTTTGCTTTTTAAAAAGTACATGCATTTACGGATGTACACAAAAGTCTGGAAGCAATATAATTGAAATCTTCGCAGTGGCTCCCCAAGGAATAGGA... | TCCACACCCATGCTCTGCAGCGTGTGCACAGCCAGGGCAGCCTCCTGCTTGACAGCGTCTGCGATTGCGATCATCCCACAGAGCACACCTGGAGCGAACCAGCCAGCATCAGCAGCTACACAAGTTGGGGCACCCCGCACCAAGATACCACACTTGCAATGTTCTCATCATATAATATTATGTGCAAAAAACAAAACATCAAATTATATAACACAATGTGGTTTTTTTGCTTTTTAAAAAGTACATGCATTTACGGATGTACACAAAAGTCTGGAAGCAATATAATTGAAATCTTCGCAGTGGCTCCCCAAGGAATAGGA... | pathogenic | 215,513 |
For chromosome 13, position 51941187, gene ATP7B (ATPase copper transporting beta): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Wilson_disease'] | AGGGCAGCCTCCTGCTTGACAGCGTCTGCGATTGCGATCATCCCACAGAGCACACCTGGAGCGAACCAGCCAGCATCAGCAGCTACACAAGTTGGGGCACCCCGCACCAAGATACCACACTTGCAATGTTCTCATCATATAATATTATGTGCAAAAAACAAAACATCAAATTATATAACACAATGTGGTTTTTTTGCTTTTTAAAAAGTACATGCATTTACGGATGTACACAAAAGTCTGGAAGCAATATAATTGAAATCTTCGCAGTGGCTCCCCAAGGAATAGGATTACGAGTGATTTCATTTTCTCCTTTATAGCTG... | AGGGCAGCCTCCTGCTTGACAGCGTCTGCGATTGCGATCATCCCACAGAGCACACCTGGAGCGAACCAGCCAGCATCAGCAGCTACACAAGTTGGGGCACCCCGCACCAAGATACCACACTTGCAATGTTCTCATCATATAATATTATGTGCAAAAAACAAAACATCAAATTATATAACACAATGTGGTTTTTTTGCTTTTTAAAAAGTACATGCATTTACGGATGTACACAAAAGTCTGGAAGCAATATAATTGAAATCTTCGCAGTGGCTCCCCAAGGAATAGGATTACGAGTGATTTCATTTTCTCCTTTATAGCTG... | pathogenic | 215,516 |
A genetic variant at chromosome 13, position 51942395, affecting gene ATP7B (ATPase copper transporting beta)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Inborn_genetic_diseases', 'Wilson_disease'] | ACCAGTCTGTATAAAGCAGATAGAAGGGCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTGAAACCCCGTCTCTACTAAAAATACAAAATGTAGCTGGGCGTGGTGGCGGGGGCCTGTAATCCCAGCTACTCAGGAGTCTGAGGCAGGAGAATTGCTTGAACCCGGAAGGTGGAGCTTGTAGTGAGACAAGTCACACCACTCCACTGCACTACAGCCTGGGTGACAAGAGGGAAACTCAGTCTAAAAAAGAAAAAGAAAGT... | ACCAGTCTGTATAAAGCAGATAGAAGGGCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTGAAACCCCGTCTCTACTAAAAATACAAAATGTAGCTGGGCGTGGTGGCGGGGGCCTGTAATCCCAGCTACTCAGGAGTCTGAGGCAGGAGAATTGCTTGAACCCGGAAGGTGGAGCTTGTAGTGAGACAAGTCACACCACTCCACTGCACTACAGCCTGGGTGACAAGAGGGAAACTCAGTCTAAAAAAGAAAAAGAAAGT... | pathogenic | 215,528 |
Mutation found at chromosome 13 position 51942444, gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Wilson_disease'] | GTAATCCCAGCACTTTGGGAGGCCAAGGCAAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTGAAACCCCGTCTCTACTAAAAATACAAAATGTAGCTGGGCGTGGTGGCGGGGGCCTGTAATCCCAGCTACTCAGGAGTCTGAGGCAGGAGAATTGCTTGAACCCGGAAGGTGGAGCTTGTAGTGAGACAAGTCACACCACTCCACTGCACTACAGCCTGGGTGACAAGAGGGAAACTCAGTCTAAAAAAGAAAAAGAAAGTAATAATAAATAAATAAAGCAGACAGAGAAGGGTGGCATGGATCTCATTA... | GTAATCCCAGCACTTTGGGAGGCCAAGGCAAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGTGAAACCCCGTCTCTACTAAAAATACAAAATGTAGCTGGGCGTGGTGGCGGGGGCCTGTAATCCCAGCTACTCAGGAGTCTGAGGCAGGAGAATTGCTTGAACCCGGAAGGTGGAGCTTGTAGTGAGACAAGTCACACCACTCCACTGCACTACAGCCTGGGTGACAAGAGGGAAACTCAGTCTAAAAAAGAAAAAGAAAGTAATAATAAATAAATAAAGCAGACAGAGAAGGGTGGCATGGATCTCATTA... | pathogenic | 215,532 |
The mutation in gene ATP7B (ATPase copper transporting beta) at chromosome 13, position 51942514—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Wilson_disease'] | GAAACCCCGTCTCTACTAAAAATACAAAATGTAGCTGGGCGTGGTGGCGGGGGCCTGTAATCCCAGCTACTCAGGAGTCTGAGGCAGGAGAATTGCTTGAACCCGGAAGGTGGAGCTTGTAGTGAGACAAGTCACACCACTCCACTGCACTACAGCCTGGGTGACAAGAGGGAAACTCAGTCTAAAAAAGAAAAAGAAAGTAATAATAAATAAATAAAGCAGACAGAGAAGGGTGGCATGGATCTCATTATTTAAATGCATCCTGTAGTTAAACCTGCTGGGAAGTGAATTCCTGCTCTGTCTGCAGGGATGAAGGAGAA... | GAAACCCCGTCTCTACTAAAAATACAAAATGTAGCTGGGCGTGGTGGCGGGGGCCTGTAATCCCAGCTACTCAGGAGTCTGAGGCAGGAGAATTGCTTGAACCCGGAAGGTGGAGCTTGTAGTGAGACAAGTCACACCACTCCACTGCACTACAGCCTGGGTGACAAGAGGGAAACTCAGTCTAAAAAAGAAAAAGAAAGTAATAATAAATAAATAAAGCAGACAGAGAAGGGTGGCATGGATCTCATTATTTAAATGCATCCTGTAGTTAAACCTGCTGGGAAGTGAATTCCTGCTCTGTCTGCAGGGATGAAGGAGAA... | pathogenic | 215,542 |
Does the variant impacting ATP7B (ATPase copper transporting beta) on chromosome 13, position 51944117, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Wilson_disease'] | AGAACGAAAGTGGAATTCCCGTCTGTCTACTCTGTAGCTTATGAGAAGCAAGACCGATATGGGATAAGAAAGAGGAGAATCAAAATCATGGGTCAGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTT... | AGAACGAAAGTGGAATTCCCGTCTGTCTACTCTGTAGCTTATGAGAAGCAAGACCGATATGGGATAAGAAAGAGGAGAATCAAAATCATGGGTCAGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTT... | pathogenic | 215,556 |
A genetic variant at chromosome 13, position 51944183, affecting gene ATP7B (ATPase copper transporting beta)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Wilson_disease'] | AGAAAGAGGAGAATCAAAATCATGGGTCAGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAAGGGCGCTCACTGT... | AGAAAGAGGAGAATCAAAATCATGGGTCAGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAAGGGCGCTCACTGT... | pathogenic | 215,569 |
Does the chromosome 13 mutation at position 51944194 within gene ATP7B (ATPase copper transporting beta) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Wilson_disease'] | AATCAAAATCATGGGTCAGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAAGGGCGCTCACTGTGGGCCAGGATG... | AATCAAAATCATGGGTCAGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAAGGGCGCTCACTGTGGGCCAGGATG... | pathogenic | 215,570 |
Benign or pathogenic: chromosome 13, position 51944204, gene ATP7B (ATPase copper transporting beta) variant? Disease(s) if pathogenic? | pathogenic; ['Wilson_disease'] | ATGGGTCAGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAAGGGCGCTCACTGTGGGCCAGGATGCCTTCCACGT... | ATGGGTCAGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAAGGGCGCTCACTGTGGGCCAGGATGCCTTCCACGT... | pathogenic | 215,574 |
A genetic variant on chromosome 13, position 51944211, affects the gene ATP7B (ATPase copper transporting beta). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Wilson_disease'] | AGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAAGGGCGCTCACTGTGGGCCAGGATGCCTTCCACGTTGCTGAC... | AGCTAAACAATGCTCTATGAATTTAAGGCAGCCATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAAGGGCGCTCACTGTGGGCCAGGATGCCTTCCACGTTGCTGAC... | pathogenic | 215,575 |
A mutation at chromosome position 51944244 on chromosome 13 in gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Wilson_disease'] | ATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAAGGGCGCTCACTGTGGGCCAGGATGCCTTCCACGTTGCTGACTTTGCACCCAATTCCACAGCCTGGCACTGCCTG... | ATAAGCAACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAAGGGCGCTCACTGTGGGCCAGGATGCCTTCCACGTTGCTGACTTTGCACCCAATTCCACAGCCTGGCACTGCCTG... | pathogenic | 215,583 |
Is the genetic mutation found on chromosome 13 at position 51944250, within the gene ATP7B (ATPase copper transporting beta), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Wilson_disease'] | AACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAAGGGCGCTCACTGTGGGCCAGGATGCCTTCCACGTTGCTGACTTTGCACCCAATTCCACAGCCTGGCACTGCCTGGAAGTC... | AACAAAATTTAGACGCACCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAAGGGCGCTCACTGTGGGCCAGGATGCCTTCCACGTTGCTGACTTTGCACCCAATTCCACAGCCTGGCACTGCCTGGAAGTC... | pathogenic | 215,585 |
Chromosome 13, position 51944267, gene ATP7B (ATPase copper transporting beta): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Wilson_disease'] | CCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAAGGGCGCTCACTGTGGGCCAGGATGCCTTCCACGTTGCTGACTTTGCACCCAATTCCACAGCCTGGCACTGCCTGGAAGTCCGTGCAGTATCCCAAGG... | CCCAAGAACATAAGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAAGGGCGCTCACTGTGGGCCAGGATGCCTTCCACGTTGCTGACTTTGCACCCAATTCCACAGCCTGGCACTGCCTGGAAGTCCGTGCAGTATCCCAAGG... | pathogenic | 215,589 |
Gene ATP7B (ATPase copper transporting beta) variant at chromosome position 51944279 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Wilson_disease'] | AGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAAGGGCGCTCACTGTGGGCCAGGATGCCTTCCACGTTGCTGACTTTGCACCCAATTCCACAGCCTGGCACTGCCTGGAAGTCCGTGCAGTATCCCAAGGTCTCTGTTCCAA... | AGAGAAACTTTCCTGGGTGTGGGGAGGCAGGCTTGGGTGCCTTAGCCATGAACCGTCTGCCGCACAGCAGAGGCAATCACTGCTGGGCGTGGTGCTCTCTGTGGTTTGACCCACCTCTACTTTTAACCAGCTGCAGAGACAAAAGCCAGCAATACCTTTTTCTGCGGGAAGGCTGCCAGCCTCATTCAGGTGACTGGCCGGTGCACTCAAAGGGCGCTCACTGTGGGCCAGGATGCCTTCCACGTTGCTGACTTTGCACCCAATTCCACAGCCTGGCACTGCCTGGAAGTCCGTGCAGTATCCCAAGGTCTCTGTTCCAA... | pathogenic | 215,591 |
Clinically, how would you classify the variant at chromosome 13, position 51946307, gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Wilson_disease'] | GGTGCCAGTCTTGTCAAACATCACAGTCTTTATCTGCCAAAAACAACCACAACTCACTGACCACAATACAGATGGAGGGGCTTCCATAGTCACACTCCTGAGGCAGAACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCC... | GGTGCCAGTCTTGTCAAACATCACAGTCTTTATCTGCCAAAAACAACCACAACTCACTGACCACAATACAGATGGAGGGGCTTCCATAGTCACACTCCTGAGGCAGAACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCC... | pathogenic | 215,604 |
Mutation at chromosome 13, position 51946346, within ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Wilson_disease'] | AAAACAACCACAACTCACTGACCACAATACAGATGGAGGGGCTTCCATAGTCACACTCCTGAGGCAGAACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAG... | AAAACAACCACAACTCACTGACCACAATACAGATGGAGGGGCTTCCATAGTCACACTCCTGAGGCAGAACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAG... | pathogenic | 215,616 |
Variant on chromosome 13, at position 51946390, affecting ATP7B (ATPase copper transporting beta): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Wilson_disease'] | CCATAGTCACACTCCTGAGGCAGAACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCAGGACCCTGAGGGACACCTGCCTCCCTGTCCACT... | CCATAGTCACACTCCTGAGGCAGAACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCAGGACCCTGAGGGACACCTGCCTCCCTGTCCACT... | pathogenic | 215,629 |
Evaluate if the mutation on chromosome 13 at position 51946391 in ATP7B (ATPase copper transporting beta) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Wilson_disease'] | CATAGTCACACTCCTGAGGCAGAACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCAGGACCCTGAGGGACACCTGCCTCCCTGTCCACTG... | CATAGTCACACTCCTGAGGCAGAACTTCACCCAACCTGCCTCAGACAGGAAACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCAGGACCCTGAGGGACACCTGCCTCCCTGTCCACTG... | pathogenic | 215,630 |
Clinical classification of chromosome 13, position 51946442, gene ATP7B (ATPase copper transporting beta): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Wilson_disease'] | ACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCAGGACCCTGAGGGACACCTGCCTCCCTGTCCACTGCCATCCGCCGAGCCCAACCTCAGCTTCCTTTTGCCTGCCTAAGTGCAAAAG... | ACAAGACACCTGCACAGCTTCCTAACGTGATCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCAGGACCCTGAGGGACACCTGCCTCCCTGTCCACTGCCATCCGCCGAGCCCAACCTCAGCTTCCTTTTGCCTGCCTAAGTGCAAAAG... | pathogenic | 215,638 |
The mutation impacting ATP7B (ATPase copper transporting beta) on chromosome 13 at position 51946472: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Wilson_disease'] | TCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCAGGACCCTGAGGGACACCTGCCTCCCTGTCCACTGCCATCCGCCGAGCCCAACCTCAGCTTCCTTTTGCCTGCCTAAGTGCAAAAGCTACTGGGAATAGAGTCCTCACACTCTGAG... | TCCTCTGTCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCAGGACCCTGAGGGACACCTGCCTCCCTGTCCACTGCCATCCGCCGAGCCCAACCTCAGCTTCCTTTTGCCTGCCTAAGTGCAAAAGCTACTGGGAATAGAGTCCTCACACTCTGAG... | pathogenic | 215,639 |
Assess the variant on chromosome 13, position 51946479, impacting ATP7B (ATPase copper transporting beta): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Wilson_disease'] | TCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCAGGACCCTGAGGGACACCTGCCTCCCTGTCCACTGCCATCCGCCGAGCCCAACCTCAGCTTCCTTTTGCCTGCCTAAGTGCAAAAGCTACTGGGAATAGAGTCCTCACACTCTGAGTTCAAGA... | TCGTTCAATCTCAGGGTTCAACAACTCCCACTGCAAAGAAACTGTTTCCCTATGTGTCCAGTCAAACCAGCCACACTGAGGCTTGACCTTGACCAGGCAAAGCCAGAAACCCTCAGTCGGCTGTACAGGAGATGGCACAGCACTGTCCCCCAGACAGTGACACCATCCACATACTCCCCCACATCAGGTCAGGAGTCAGGACCCTGAGGGACACCTGCCTCCCTGTCCACTGCCATCCGCCGAGCCCAACCTCAGCTTCCTTTTGCCTGCCTAAGTGCAAAAGCTACTGGGAATAGAGTCCTCACACTCTGAGTTCAAGA... | pathogenic | 215,640 |
Evaluate the clinical significance of the mutation at chromosome 13, position 51949694 in gene ATP7B (ATPase copper transporting beta): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Wilson_disease'] | CAGTTATATTTAGGTAGAGGGATATATTAAGATTTTTAGACATAAAGATTATGTAATCTTTTTTAAAAATACACTAATTCTTGTCAAAATCACACCTGGCATTCTGATAGGACTGGGTGGACTTCTGGAAGTTACCATGAGCCCTTCTCTACAATGACTTTTGTACAGCAGAGAGATGACAGTATCTTAAAGGAACATGCAGTACCTCATTTGCCAGCATCCTCCCTGATATTGCAGATAAAAACAAAAGAAGCCAAAGTAAGATGGAAAGGCATGGAACAGCAGAAAGCCACAGATTCCAACTTGTTTAGGACTGAGTC... | CAGTTATATTTAGGTAGAGGGATATATTAAGATTTTTAGACATAAAGATTATGTAATCTTTTTTAAAAATACACTAATTCTTGTCAAAATCACACCTGGCATTCTGATAGGACTGGGTGGACTTCTGGAAGTTACCATGAGCCCTTCTCTACAATGACTTTTGTACAGCAGAGAGATGACAGTATCTTAAAGGAACATGCAGTACCTCATTTGCCAGCATCCTCCCTGATATTGCAGATAAAAACAAAAGAAGCCAAAGTAAGATGGAAAGGCATGGAACAGCAGAAAGCCACAGATTCCAACTTGTTTAGGACTGAGTC... | pathogenic | 215,652 |
Is the genetic variant on chromosome 13, position 51949716, gene ATP7B (ATPase copper transporting beta), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Inborn_genetic_diseases', 'Wilson_disease'] | TATATTAAGATTTTTAGACATAAAGATTATGTAATCTTTTTTAAAAATACACTAATTCTTGTCAAAATCACACCTGGCATTCTGATAGGACTGGGTGGACTTCTGGAAGTTACCATGAGCCCTTCTCTACAATGACTTTTGTACAGCAGAGAGATGACAGTATCTTAAAGGAACATGCAGTACCTCATTTGCCAGCATCCTCCCTGATATTGCAGATAAAAACAAAAGAAGCCAAAGTAAGATGGAAAGGCATGGAACAGCAGAAAGCCACAGATTCCAACTTGTTTAGGACTGAGTCTTCCCATGGCCATATGCCAACG... | TATATTAAGATTTTTAGACATAAAGATTATGTAATCTTTTTTAAAAATACACTAATTCTTGTCAAAATCACACCTGGCATTCTGATAGGACTGGGTGGACTTCTGGAAGTTACCATGAGCCCTTCTCTACAATGACTTTTGTACAGCAGAGAGATGACAGTATCTTAAAGGAACATGCAGTACCTCATTTGCCAGCATCCTCCCTGATATTGCAGATAAAAACAAAAGAAGCCAAAGTAAGATGGAAAGGCATGGAACAGCAGAAAGCCACAGATTCCAACTTGTTTAGGACTGAGTCTTCCCATGGCCATATGCCAACG... | pathogenic | 215,659 |
Is the chromosome 13, position 51949734 variant in ATP7B (ATPase copper transporting beta) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Wilson_disease'] | CATAAAGATTATGTAATCTTTTTTAAAAATACACTAATTCTTGTCAAAATCACACCTGGCATTCTGATAGGACTGGGTGGACTTCTGGAAGTTACCATGAGCCCTTCTCTACAATGACTTTTGTACAGCAGAGAGATGACAGTATCTTAAAGGAACATGCAGTACCTCATTTGCCAGCATCCTCCCTGATATTGCAGATAAAAACAAAAGAAGCCAAAGTAAGATGGAAAGGCATGGAACAGCAGAAAGCCACAGATTCCAACTTGTTTAGGACTGAGTCTTCCCATGGCCATATGCCAACGCACTGCTTTCCCGAAAAA... | CATAAAGATTATGTAATCTTTTTTAAAAATACACTAATTCTTGTCAAAATCACACCTGGCATTCTGATAGGACTGGGTGGACTTCTGGAAGTTACCATGAGCCCTTCTCTACAATGACTTTTGTACAGCAGAGAGATGACAGTATCTTAAAGGAACATGCAGTACCTCATTTGCCAGCATCCTCCCTGATATTGCAGATAAAAACAAAAGAAGCCAAAGTAAGATGGAAAGGCATGGAACAGCAGAAAGCCACAGATTCCAACTTGTTTAGGACTGAGTCTTCCCATGGCCATATGCCAACGCACTGCTTTCCCGAAAAA... | pathogenic | 215,665 |
Regarding the variant at chromosome 13 and position 51949745, affecting gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Wilson_disease'] | TGTAATCTTTTTTAAAAATACACTAATTCTTGTCAAAATCACACCTGGCATTCTGATAGGACTGGGTGGACTTCTGGAAGTTACCATGAGCCCTTCTCTACAATGACTTTTGTACAGCAGAGAGATGACAGTATCTTAAAGGAACATGCAGTACCTCATTTGCCAGCATCCTCCCTGATATTGCAGATAAAAACAAAAGAAGCCAAAGTAAGATGGAAAGGCATGGAACAGCAGAAAGCCACAGATTCCAACTTGTTTAGGACTGAGTCTTCCCATGGCCATATGCCAACGCACTGCTTTCCCGAAAAAGCCGAAATTAT... | TGTAATCTTTTTTAAAAATACACTAATTCTTGTCAAAATCACACCTGGCATTCTGATAGGACTGGGTGGACTTCTGGAAGTTACCATGAGCCCTTCTCTACAATGACTTTTGTACAGCAGAGAGATGACAGTATCTTAAAGGAACATGCAGTACCTCATTTGCCAGCATCCTCCCTGATATTGCAGATAAAAACAAAAGAAGCCAAAGTAAGATGGAAAGGCATGGAACAGCAGAAAGCCACAGATTCCAACTTGTTTAGGACTGAGTCTTCCCATGGCCATATGCCAACGCACTGCTTTCCCGAAAAAGCCGAAATTAT... | pathogenic | 215,667 |
Clinically, how would you classify the variant at chromosome 13, position 51950013, gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Wilson_disease'] | CTTCCCATGGCCATATGCCAACGCACTGCTTTCCCGAAAAAGCCGAAATTATAGGCAGTCAGGTGCCATGGATAGCCACAGGCACATTCTACCAATATATCTGTAAGTTACTTTTAAGAGCACTGAGGTTCCTTAGATGTCAGAAAGTGTTTAACTTGAACATTGTTCAATTTAAGATGGGAAATTTGAGGGAGAAAATACATCCTAGTAAATGACATGTGTCCTGAGAATATTTGATATACTTTTAATTATGTGAAGGATTTTTTTTAAAAGAAAAAAATTATCCATTCTGTATTTGTACTTTTTGCTACGTTGCCCAG... | CTTCCCATGGCCATATGCCAACGCACTGCTTTCCCGAAAAAGCCGAAATTATAGGCAGTCAGGTGCCATGGATAGCCACAGGCACATTCTACCAATATATCTGTAAGTTACTTTTAAGAGCACTGAGGTTCCTTAGATGTCAGAAAGTGTTTAACTTGAACATTGTTCAATTTAAGATGGGAAATTTGAGGGAGAAAATACATCCTAGTAAATGACATGTGTCCTGAGAATATTTGATATACTTTTAATTATGTGAAGGATTTTTTTTAAAAGAAAAAAATTATCCATTCTGTATTTGTACTTTTTGCTACGTTGCCCAG... | pathogenic | 215,677 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 51950087, gene ATP7B (ATPase copper transporting beta). What disease(s) is it linked to if pathogenic? | pathogenic; ['Wilson_disease'] | GCCACAGGCACATTCTACCAATATATCTGTAAGTTACTTTTAAGAGCACTGAGGTTCCTTAGATGTCAGAAAGTGTTTAACTTGAACATTGTTCAATTTAAGATGGGAAATTTGAGGGAGAAAATACATCCTAGTAAATGACATGTGTCCTGAGAATATTTGATATACTTTTAATTATGTGAAGGATTTTTTTTAAAAGAAAAAAATTATCCATTCTGTATTTGTACTTTTTGCTACGTTGCCCAGGTTGGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCC... | GCCACAGGCACATTCTACCAATATATCTGTAAGTTACTTTTAAGAGCACTGAGGTTCCTTAGATGTCAGAAAGTGTTTAACTTGAACATTGTTCAATTTAAGATGGGAAATTTGAGGGAGAAAATACATCCTAGTAAATGACATGTGTCCTGAGAATATTTGATATACTTTTAATTATGTGAAGGATTTTTTTTAAAAGAAAAAAATTATCCATTCTGTATTTGTACTTTTTGCTACGTTGCCCAGGTTGGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCC... | pathogenic | 215,684 |
Does the genetic variant at chromosome 13, position 51950121, impacting gene ATP7B (ATPase copper transporting beta), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Wilson_disease'] | TACTTTTAAGAGCACTGAGGTTCCTTAGATGTCAGAAAGTGTTTAACTTGAACATTGTTCAATTTAAGATGGGAAATTTGAGGGAGAAAATACATCCTAGTAAATGACATGTGTCCTGAGAATATTTGATATACTTTTAATTATGTGAAGGATTTTTTTTAAAAGAAAAAAATTATCCATTCTGTATTTGTACTTTTTGCTACGTTGCCCAGGTTGGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAG... | TACTTTTAAGAGCACTGAGGTTCCTTAGATGTCAGAAAGTGTTTAACTTGAACATTGTTCAATTTAAGATGGGAAATTTGAGGGAGAAAATACATCCTAGTAAATGACATGTGTCCTGAGAATATTTGATATACTTTTAATTATGTGAAGGATTTTTTTTAAAAGAAAAAAATTATCCATTCTGTATTTGTACTTTTTGCTACGTTGCCCAGGTTGGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAG... | pathogenic | 215,689 |
Variant chromosome 13, position 51950132, gene ATP7B (ATPase copper transporting beta): benign or pathogenic? Disease(s)? | pathogenic; ['Wilson_disease'] | GCACTGAGGTTCCTTAGATGTCAGAAAGTGTTTAACTTGAACATTGTTCAATTTAAGATGGGAAATTTGAGGGAGAAAATACATCCTAGTAAATGACATGTGTCCTGAGAATATTTGATATACTTTTAATTATGTGAAGGATTTTTTTTAAAAGAAAAAAATTATCCATTCTGTATTTGTACTTTTTGCTACGTTGCCCAGGTTGGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCA... | GCACTGAGGTTCCTTAGATGTCAGAAAGTGTTTAACTTGAACATTGTTCAATTTAAGATGGGAAATTTGAGGGAGAAAATACATCCTAGTAAATGACATGTGTCCTGAGAATATTTGATATACTTTTAATTATGTGAAGGATTTTTTTTAAAAGAAAAAAATTATCCATTCTGTATTTGTACTTTTTGCTACGTTGCCCAGGTTGGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCA... | pathogenic | 215,692 |
A genetic alteration at chromosome 13, position 51950147, in gene ATP7B (ATPase copper transporting beta)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Wilson_disease'] | AGATGTCAGAAAGTGTTTAACTTGAACATTGTTCAATTTAAGATGGGAAATTTGAGGGAGAAAATACATCCTAGTAAATGACATGTGTCCTGAGAATATTTGATATACTTTTAATTATGTGAAGGATTTTTTTTAAAAGAAAAAAATTATCCATTCTGTATTTGTACTTTTTGCTACGTTGCCCAGGTTGGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTT... | AGATGTCAGAAAGTGTTTAACTTGAACATTGTTCAATTTAAGATGGGAAATTTGAGGGAGAAAATACATCCTAGTAAATGACATGTGTCCTGAGAATATTTGATATACTTTTAATTATGTGAAGGATTTTTTTTAAAAGAAAAAAATTATCCATTCTGTATTTGTACTTTTTGCTACGTTGCCCAGGTTGGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTT... | pathogenic | 215,694 |
The chromosome 13, position 51950148 genetic variant in gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Wilson_disease'] | GATGTCAGAAAGTGTTTAACTTGAACATTGTTCAATTTAAGATGGGAAATTTGAGGGAGAAAATACATCCTAGTAAATGACATGTGTCCTGAGAATATTTGATATACTTTTAATTATGTGAAGGATTTTTTTTAAAAGAAAAAAATTATCCATTCTGTATTTGTACTTTTTGCTACGTTGCCCAGGTTGGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTTC... | GATGTCAGAAAGTGTTTAACTTGAACATTGTTCAATTTAAGATGGGAAATTTGAGGGAGAAAATACATCCTAGTAAATGACATGTGTCCTGAGAATATTTGATATACTTTTAATTATGTGAAGGATTTTTTTTAAAAGAAAAAAATTATCCATTCTGTATTTGTACTTTTTGCTACGTTGCCCAGGTTGGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTTC... | pathogenic | 215,695 |
Evaluate the clinical significance of the mutation at chromosome 13, position 51950165 in gene ATP7B (ATPase copper transporting beta): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | AACTTGAACATTGTTCAATTTAAGATGGGAAATTTGAGGGAGAAAATACATCCTAGTAAATGACATGTGTCCTGAGAATATTTGATATACTTTTAATTATGTGAAGGATTTTTTTTAAAAGAAAAAAATTATCCATTCTGTATTTGTACTTTTTGCTACGTTGCCCAGGTTGGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTTCTCATTCTATGGCTCTAT... | AACTTGAACATTGTTCAATTTAAGATGGGAAATTTGAGGGAGAAAATACATCCTAGTAAATGACATGTGTCCTGAGAATATTTGATATACTTTTAATTATGTGAAGGATTTTTTTTAAAAGAAAAAAATTATCCATTCTGTATTTGTACTTTTTGCTACGTTGCCCAGGTTGGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTTCTCATTCTATGGCTCTAT... | benign | 215,698 |
A mutation at chromosome position 51950314 on chromosome 13 in gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Wilson_disease'] | TTTTTGCTACGTTGCCCAGGTTGGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTTCTCATTCTATGGCTCTATGGTATAACAAGCACTAGACTGGGCTAGGAATAAGATAAGGTAAAAACATTGTTCCGCTCATTGTGCCATTACCAAATACTGTTCTAAGTGTGCCATTAGCTTTTTAAGTACATTATCAAGGTTTCAACCTCAGTGCTACTGACATTTGG... | TTTTTGCTACGTTGCCCAGGTTGGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTTCTCATTCTATGGCTCTATGGTATAACAAGCACTAGACTGGGCTAGGAATAAGATAAGGTAAAAACATTGTTCCGCTCATTGTGCCATTACCAAATACTGTTCTAAGTGTGCCATTAGCTTTTTAAGTACATTATCAAGGTTTCAACCTCAGTGCTACTGACATTTGG... | pathogenic | 215,709 |
Variant in gene ATP7B (ATPase copper transporting beta), located at chromosome 13 position 51950333: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Wilson_disease'] | GTTGGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTTCTCATTCTATGGCTCTATGGTATAACAAGCACTAGACTGGGCTAGGAATAAGATAAGGTAAAAACATTGTTCCGCTCATTGTGCCATTACCAAATACTGTTCTAAGTGTGCCATTAGCTTTTTAAGTACATTATCAAGGTTTCAACCTCAGTGCTACTGACATTTGGGGCCAGATAACTCTTTGTT... | GTTGGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTTCTCATTCTATGGCTCTATGGTATAACAAGCACTAGACTGGGCTAGGAATAAGATAAGGTAAAAACATTGTTCCGCTCATTGTGCCATTACCAAATACTGTTCTAAGTGTGCCATTAGCTTTTTAAGTACATTATCAAGGTTTCAACCTCAGTGCTACTGACATTTGGGGCCAGATAACTCTTTGTT... | pathogenic | 215,713 |
The genetic variant at chromosome 13, position 51950336, affecting gene ATP7B (ATPase copper transporting beta): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Wilson_disease'] | GGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTTCTCATTCTATGGCTCTATGGTATAACAAGCACTAGACTGGGCTAGGAATAAGATAAGGTAAAAACATTGTTCCGCTCATTGTGCCATTACCAAATACTGTTCTAAGTGTGCCATTAGCTTTTTAAGTACATTATCAAGGTTTCAACCTCAGTGCTACTGACATTTGGGGCCAGATAACTCTTTGTTGTA... | GGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTTCTCATTCTATGGCTCTATGGTATAACAAGCACTAGACTGGGCTAGGAATAAGATAAGGTAAAAACATTGTTCCGCTCATTGTGCCATTACCAAATACTGTTCTAAGTGTGCCATTAGCTTTTTAAGTACATTATCAAGGTTTCAACCTCAGTGCTACTGACATTTGGGGCCAGATAACTCTTTGTTGTA... | pathogenic | 215,715 |
Evaluate this variant at chromosome 13, position 51950336, gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Wilson_disease'] | GGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTTCTCATTCTATGGCTCTATGGTATAACAAGCACTAGACTGGGCTAGGAATAAGATAAGGTAAAAACATTGTTCCGCTCATTGTGCCATTACCAAATACTGTTCTAAGTGTGCCATTAGCTTTTTAAGTACATTATCAAGGTTTCAACCTCAGTGCTACTGACATTTGGGGCCAGATAACTCTTTGTTGTA... | GGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTTCTCATTCTATGGCTCTATGGTATAACAAGCACTAGACTGGGCTAGGAATAAGATAAGGTAAAAACATTGTTCCGCTCATTGTGCCATTACCAAATACTGTTCTAAGTGTGCCATTAGCTTTTTAAGTACATTATCAAGGTTTCAACCTCAGTGCTACTGACATTTGGGGCCAGATAACTCTTTGTTGTA... | pathogenic | 215,716 |
Variant in ATP7B (ATPase copper transporting beta), chromosome 13, position 51950336—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Wilson_disease'] | GGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTTCTCATTCTATGGCTCTATGGTATAACAAGCACTAGACTGGGCTAGGAATAAGATAAGGTAAAAACATTGTTCCGCTCATTGTGCCATTACCAAATACTGTTCTAAGTGTGCCATTAGCTTTTTAAGTACATTATCAAGGTTTCAACCTCAGTGCTACTGACATTTGGGGCCAGATAACTCTTTGTTGTA... | GGAGTGCAGTGGCTATTCACAGGCACGATCATAGCACACTACAGCCTCAAACTCCTGGACTCAAATGATCCTCTGCCTTAGCCTCCCAAGTAGCTGAGTCTACAGGTGCATCACCACACCCAGTATGGTTTCTCATTCTATGGCTCTATGGTATAACAAGCACTAGACTGGGCTAGGAATAAGATAAGGTAAAAACATTGTTCCGCTCATTGTGCCATTACCAAATACTGTTCTAAGTGTGCCATTAGCTTTTTAAGTACATTATCAAGGTTTCAACCTCAGTGCTACTGACATTTGGGGCCAGATAACTCTTTGTTGTA... | pathogenic | 215,717 |
Considering the variant on chromosome 13, location 51957523, involving gene ATP7B (ATPase copper transporting beta), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Wilson_disease'] | GTAGTCAGGCCGTGCGTCCCCAGCCAAAAAATGAATCGGCATTCTTGGAAAAGAACTGAGTTATGACAGGTGCTGCACGCACCCCGTGGGCACTTCGGCCGGCAGATGCCTTCTCCTCCTGTTCAGATCCCTGGAATAGTTCCAAGCAACTGCAGTCAGTGCCATCAGAGGCGCCTCAAACTGTACCGAAGACCCTAGCAAGGCGAGTTGGAGGAAACATGAGTCAAAACCAACACAGCTGCCAGCGGCTTGGCTCCCTGTCTGAACGTTTTCACTTCTCAGAAACTTTCATGCAATTAATTTATAAGAGAAGAAAAAAA... | GTAGTCAGGCCGTGCGTCCCCAGCCAAAAAATGAATCGGCATTCTTGGAAAAGAACTGAGTTATGACAGGTGCTGCACGCACCCCGTGGGCACTTCGGCCGGCAGATGCCTTCTCCTCCTGTTCAGATCCCTGGAATAGTTCCAAGCAACTGCAGTCAGTGCCATCAGAGGCGCCTCAAACTGTACCGAAGACCCTAGCAAGGCGAGTTGGAGGAAACATGAGTCAAAACCAACACAGCTGCCAGCGGCTTGGCTCCCTGTCTGAACGTTTTCACTTCTCAGAAACTTTCATGCAATTAATTTATAAGAGAAGAAAAAAA... | pathogenic | 215,727 |
Assess the variant on chromosome 13, position 51957536, impacting ATP7B (ATPase copper transporting beta): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Wilson_disease'] | GCGTCCCCAGCCAAAAAATGAATCGGCATTCTTGGAAAAGAACTGAGTTATGACAGGTGCTGCACGCACCCCGTGGGCACTTCGGCCGGCAGATGCCTTCTCCTCCTGTTCAGATCCCTGGAATAGTTCCAAGCAACTGCAGTCAGTGCCATCAGAGGCGCCTCAAACTGTACCGAAGACCCTAGCAAGGCGAGTTGGAGGAAACATGAGTCAAAACCAACACAGCTGCCAGCGGCTTGGCTCCCTGTCTGAACGTTTTCACTTCTCAGAAACTTTCATGCAATTAATTTATAAGAGAAGAAAAAAAAAAGAAGCCAAGG... | GCGTCCCCAGCCAAAAAATGAATCGGCATTCTTGGAAAAGAACTGAGTTATGACAGGTGCTGCACGCACCCCGTGGGCACTTCGGCCGGCAGATGCCTTCTCCTCCTGTTCAGATCCCTGGAATAGTTCCAAGCAACTGCAGTCAGTGCCATCAGAGGCGCCTCAAACTGTACCGAAGACCCTAGCAAGGCGAGTTGGAGGAAACATGAGTCAAAACCAACACAGCTGCCAGCGGCTTGGCTCCCTGTCTGAACGTTTTCACTTCTCAGAAACTTTCATGCAATTAATTTATAAGAGAAGAAAAAAAAAAGAAGCCAAGG... | pathogenic | 215,729 |
The genetic variant at chromosome 13, position 51957552, affecting gene ATP7B (ATPase copper transporting beta): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Wilson_disease'] | AATGAATCGGCATTCTTGGAAAAGAACTGAGTTATGACAGGTGCTGCACGCACCCCGTGGGCACTTCGGCCGGCAGATGCCTTCTCCTCCTGTTCAGATCCCTGGAATAGTTCCAAGCAACTGCAGTCAGTGCCATCAGAGGCGCCTCAAACTGTACCGAAGACCCTAGCAAGGCGAGTTGGAGGAAACATGAGTCAAAACCAACACAGCTGCCAGCGGCTTGGCTCCCTGTCTGAACGTTTTCACTTCTCAGAAACTTTCATGCAATTAATTTATAAGAGAAGAAAAAAAAAAGAAGCCAAGGCATGTGACTGCTGCAG... | AATGAATCGGCATTCTTGGAAAAGAACTGAGTTATGACAGGTGCTGCACGCACCCCGTGGGCACTTCGGCCGGCAGATGCCTTCTCCTCCTGTTCAGATCCCTGGAATAGTTCCAAGCAACTGCAGTCAGTGCCATCAGAGGCGCCTCAAACTGTACCGAAGACCCTAGCAAGGCGAGTTGGAGGAAACATGAGTCAAAACCAACACAGCTGCCAGCGGCTTGGCTCCCTGTCTGAACGTTTTCACTTCTCAGAAACTTTCATGCAATTAATTTATAAGAGAAGAAAAAAAAAAGAAGCCAAGGCATGTGACTGCTGCAG... | pathogenic | 215,732 |
Determine whether the variant at chromosome 13, position 51958361, in gene ATP7B (ATPase copper transporting beta) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['ATP7B-related_disorder', 'Inborn_genetic_diseases', 'Wilson_disease'] | TCTGTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCT... | TCTGTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCT... | pathogenic | 215,757 |
Assess the variant on chromosome 13, position 51958361, impacting ATP7B (ATPase copper transporting beta): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Inborn_genetic_diseases', 'Wilson_disease'] | TCTGTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCT... | TCTGTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCT... | pathogenic | 215,758 |
The chromosome 13, position 51958364 genetic variant in gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Wilson_disease'] | GTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCTGAA... | GTCTCAGCCTTCACGCCCAGGCCTCCAGGACACAGCTAGGGCAGGCTGGCTCCATCAACAGTGTGATACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCTGAA... | pathogenic | 215,760 |
Considering the genetic mutation at chromosome 13, position 51958431, impacting ATP7B (ATPase copper transporting beta): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Wilson_disease'] | ACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCTGAACACTTCTCCTTCCAGTAGTCCAAAGCGAGACCACAGGCTAATAGAAAATGTGGTGGGACCAGGGAGA... | ACATGGACAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCTGAACACTTCTCCTTCCAGTAGTCCAAAGCGAGACCACAGGCTAATAGAAAATGTGGTGGGACCAGGGAGA... | pathogenic | 215,771 |
Variant in ATP7B (ATPase copper transporting beta), chromosome 13, position 51958438—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Wilson_disease'] | CAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCTGAACACTTCTCCTTCCAGTAGTCCAAAGCGAGACCACAGGCTAATAGAAAATGTGGTGGGACCAGGGAGAGATTTTA... | CAAGGGCACACAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCTGAACACTTCTCCTTCCAGTAGTCCAAAGCGAGACCACAGGCTAATAGAAAATGTGGTGGGACCAGGGAGAGATTTTA... | pathogenic | 215,773 |
A genetic variant on chromosome 13, position 51958448, affects the gene ATP7B (ATPase copper transporting beta). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Wilson_disease'] | CAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCTGAACACTTCTCCTTCCAGTAGTCCAAAGCGAGACCACAGGCTAATAGAAAATGTGGTGGGACCAGGGAGAGATTTTAGGAATATGAA... | CAAGGGAGGGGCAAGGCACAACGCCTCTGAAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCTGAACACTTCTCCTTCCAGTAGTCCAAAGCGAGACCACAGGCTAATAGAAAATGTGGTGGGACCAGGGAGAGATTTTAGGAATATGAA... | pathogenic | 215,775 |
Is the chromosome 13, position 51958477 variant in ATP7B (ATPase copper transporting beta) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Wilson_disease'] | AAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCTGAACACTTCTCCTTCCAGTAGTCCAAAGCGAGACCACAGGCTAATAGAAAATGTGGTGGGACCAGGGAGAGATTTTAGGAATATGAAGGAGGGCTGAAATAACCATTGCCTAGAAT... | AAAATGGGAGTGGTTAGAGTCTGCATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCTGAACACTTCTCCTTCCAGTAGTCCAAAGCGAGACCACAGGCTAATAGAAAATGTGGTGGGACCAGGGAGAGATTTTAGGAATATGAAGGAGGGCTGAAATAACCATTGCCTAGAAT... | pathogenic | 215,779 |
Gene ATP7B (ATPase copper transporting beta) variant at chromosome position 51958500 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Wilson_disease'] | CATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCTGAACACTTCTCCTTCCAGTAGTCCAAAGCGAGACCACAGGCTAATAGAAAATGTGGTGGGACCAGGGAGAGATTTTAGGAATATGAAGGAGGGCTGAAATAACCATTGCCTAGAATATAAAAAAGAAGCTAACCCCAAG... | CATGACATCGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCTGAACACTTCTCCTTCCAGTAGTCCAAAGCGAGACCACAGGCTAATAGAAAATGTGGTGGGACCAGGGAGAGATTTTAGGAATATGAAGGAGGGCTGAAATAACCATTGCCTAGAATATAAAAAAGAAGCTAACCCCAAG... | pathogenic | 215,781 |
Variant in ATP7B (ATPase copper transporting beta), chromosome 13, position 51958508—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Wilson_disease'] | CGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCTGAACACTTCTCCTTCCAGTAGTCCAAAGCGAGACCACAGGCTAATAGAAAATGTGGTGGGACCAGGGAGAGATTTTAGGAATATGAAGGAGGGCTGAAATAACCATTGCCTAGAATATAAAAAAGAAGCTAACCCCAAGGAAATACA... | CGGAGGATAAGAATCAGAGACACCAAAAACCACTGAGAAAACCAACAGAGAAAGGTTCCCGGGTAGAGGCATTGGAGGAGACGCCTCTCCCACCAACGGGGCAGGAGCGGGAGGTGCCACGGAGGAGGCTAGCTGTGTAGGCTGAGGGACAGGGAACTGGAGGGTTTCCATCTGAACACTTCTCCTTCCAGTAGTCCAAAGCGAGACCACAGGCTAATAGAAAATGTGGTGGGACCAGGGAGAGATTTTAGGAATATGAAGGAGGGCTGAAATAACCATTGCCTAGAATATAAAAAAGAAGCTAACCCCAAGGAAATACA... | pathogenic | 215,784 |
Evaluate this variant at chromosome 13, position 51960168, gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Wilson_disease'] | GCTGGGATTTCAGAAGTAGTGACCAATTTGGAGATTAGTGACTAGAGCACCTTAATTATATGGAGGTTTCCTATTTCTTTAAGTCTGTCTCTATGCTGTGTATAATTAGTAATTCTAAACATGGTGTTCAGAGGAAGTGAGATTTGTTTACTGAAGGAGCAGCTCTTTTCTGAACCTGAAGCTGCTGTTACCTTTGCCAAGTGTTCCAGCCACCGGCCCAGGGCAATGAACACAAAGAGCATGGGGGGCGTGTCGAAGAATGTCACAGGGCTCCTCTCCGCCTTCTCAGCCACAGCAACCACCAGGATGACCAGAGAATA... | GCTGGGATTTCAGAAGTAGTGACCAATTTGGAGATTAGTGACTAGAGCACCTTAATTATATGGAGGTTTCCTATTTCTTTAAGTCTGTCTCTATGCTGTGTATAATTAGTAATTCTAAACATGGTGTTCAGAGGAAGTGAGATTTGTTTACTGAAGGAGCAGCTCTTTTCTGAACCTGAAGCTGCTGTTACCTTTGCCAAGTGTTCCAGCCACCGGCCCAGGGCAATGAACACAAAGAGCATGGGGGGCGTGTCGAAGAATGTCACAGGGCTCCTCTCCGCCTTCTCAGCCACAGCAACCACCAGGATGACCAGAGAATA... | pathogenic | 215,803 |
Is the genetic change at chromosome 13, position 51960233, within gene ATP7B (ATPase copper transporting beta) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Wilson_disease'] | GTTTCCTATTTCTTTAAGTCTGTCTCTATGCTGTGTATAATTAGTAATTCTAAACATGGTGTTCAGAGGAAGTGAGATTTGTTTACTGAAGGAGCAGCTCTTTTCTGAACCTGAAGCTGCTGTTACCTTTGCCAAGTGTTCCAGCCACCGGCCCAGGGCAATGAACACAAAGAGCATGGGGGGCGTGTCGAAGAATGTCACAGGGCTCCTCTCCGCCTTCTCAGCCACAGCAACCACCAGGATGACCAGAGAATAAACATAAGCAATGCTTGTGGCCAGGACGATGAGCACGTCCATGTTGGCTGACCTGTGTCTCAGAG... | GTTTCCTATTTCTTTAAGTCTGTCTCTATGCTGTGTATAATTAGTAATTCTAAACATGGTGTTCAGAGGAAGTGAGATTTGTTTACTGAAGGAGCAGCTCTTTTCTGAACCTGAAGCTGCTGTTACCTTTGCCAAGTGTTCCAGCCACCGGCCCAGGGCAATGAACACAAAGAGCATGGGGGGCGTGTCGAAGAATGTCACAGGGCTCCTCTCCGCCTTCTCAGCCACAGCAACCACCAGGATGACCAGAGAATAAACATAAGCAATGCTTGTGGCCAGGACGATGAGCACGTCCATGTTGGCTGACCTGTGTCTCAGAG... | pathogenic | 215,812 |
Considering the genetic mutation at chromosome 13, position 51960253, impacting ATP7B (ATPase copper transporting beta): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Wilson_disease'] | TGTCTCTATGCTGTGTATAATTAGTAATTCTAAACATGGTGTTCAGAGGAAGTGAGATTTGTTTACTGAAGGAGCAGCTCTTTTCTGAACCTGAAGCTGCTGTTACCTTTGCCAAGTGTTCCAGCCACCGGCCCAGGGCAATGAACACAAAGAGCATGGGGGGCGTGTCGAAGAATGTCACAGGGCTCCTCTCCGCCTTCTCAGCCACAGCAACCACCAGGATGACCAGAGAATAAACATAAGCAATGCTTGTGGCCAGGACGATGAGCACGTCCATGTTGGCTGACCTGTGTCTCAGAGATTTGTAGGCCTGAACGTAG... | TGTCTCTATGCTGTGTATAATTAGTAATTCTAAACATGGTGTTCAGAGGAAGTGAGATTTGTTTACTGAAGGAGCAGCTCTTTTCTGAACCTGAAGCTGCTGTTACCTTTGCCAAGTGTTCCAGCCACCGGCCCAGGGCAATGAACACAAAGAGCATGGGGGGCGTGTCGAAGAATGTCACAGGGCTCCTCTCCGCCTTCTCAGCCACAGCAACCACCAGGATGACCAGAGAATAAACATAAGCAATGCTTGTGGCCAGGACGATGAGCACGTCCATGTTGGCTGACCTGTGTCTCAGAGATTTGTAGGCCTGAACGTAG... | pathogenic | 215,814 |
For chromosome 13, position 51960256, gene ATP7B (ATPase copper transporting beta): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Wilson_disease'] | CTCTATGCTGTGTATAATTAGTAATTCTAAACATGGTGTTCAGAGGAAGTGAGATTTGTTTACTGAAGGAGCAGCTCTTTTCTGAACCTGAAGCTGCTGTTACCTTTGCCAAGTGTTCCAGCCACCGGCCCAGGGCAATGAACACAAAGAGCATGGGGGGCGTGTCGAAGAATGTCACAGGGCTCCTCTCCGCCTTCTCAGCCACAGCAACCACCAGGATGACCAGAGAATAAACATAAGCAATGCTTGTGGCCAGGACGATGAGCACGTCCATGTTGGCTGACCTGTGTCTCAGAGATTTGTAGGCCTGAACGTAGAAG... | CTCTATGCTGTGTATAATTAGTAATTCTAAACATGGTGTTCAGAGGAAGTGAGATTTGTTTACTGAAGGAGCAGCTCTTTTCTGAACCTGAAGCTGCTGTTACCTTTGCCAAGTGTTCCAGCCACCGGCCCAGGGCAATGAACACAAAGAGCATGGGGGGCGTGTCGAAGAATGTCACAGGGCTCCTCTCCGCCTTCTCAGCCACAGCAACCACCAGGATGACCAGAGAATAAACATAAGCAATGCTTGTGGCCAGGACGATGAGCACGTCCATGTTGGCTGACCTGTGTCTCAGAGATTTGTAGGCCTGAACGTAGAAG... | pathogenic | 215,815 |
Variant at chromosome 13, position 51960305, gene ATP7B (ATPase copper transporting beta): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Wilson_disease'] | TGAGATTTGTTTACTGAAGGAGCAGCTCTTTTCTGAACCTGAAGCTGCTGTTACCTTTGCCAAGTGTTCCAGCCACCGGCCCAGGGCAATGAACACAAAGAGCATGGGGGGCGTGTCGAAGAATGTCACAGGGCTCCTCTCCGCCTTCTCAGCCACAGCAACCACCAGGATGACCAGAGAATAAACATAAGCAATGCTTGTGGCCAGGACGATGAGCACGTCCATGTTGGCTGACCTGTGTCTCAGAGATTTGTAGGCCTGAACGTAGAAGTACCACCCACCGAGGAGCTGAAAGACAAGGACAGTGAAGGCTGCCAGCA... | TGAGATTTGTTTACTGAAGGAGCAGCTCTTTTCTGAACCTGAAGCTGCTGTTACCTTTGCCAAGTGTTCCAGCCACCGGCCCAGGGCAATGAACACAAAGAGCATGGGGGGCGTGTCGAAGAATGTCACAGGGCTCCTCTCCGCCTTCTCAGCCACAGCAACCACCAGGATGACCAGAGAATAAACATAAGCAATGCTTGTGGCCAGGACGATGAGCACGTCCATGTTGGCTGACCTGTGTCTCAGAGATTTGTAGGCCTGAACGTAGAAGTACCACCCACCGAGGAGCTGAAAGACAAGGACAGTGAAGGCTGCCAGCA... | pathogenic | 215,819 |
Variant in gene ATP7B (ATPase copper transporting beta), located at chromosome 13 position 51961874: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Wilson_disease'] | TATGCACATTGGAGACACAGAGTTCACCACACCTTGCAGCAAGGAGGTTGCTATTCCAGGGCCAGTTCTGATCACTTGCAATCAACTGAAACTGACAGTGAAACCAGGCCCTTAGTAGTCCCCCACACTGGGGGGGCCCCAAGCCCCACCTACTGGTCATTAAGAGAGAAAAAAAGCAGCAACTGCCTGGGTGGGGCAGGAAAGCTGCAATAAAGTGCCATTTAAACCAAGCTAAAGCACTATGTTTGCGCTTAGCGGGCAGAATATCTGAGGGCCACACACAGCATGGAAGGGAGAGGTCTGCCCACTTTCTCATATAT... | TATGCACATTGGAGACACAGAGTTCACCACACCTTGCAGCAAGGAGGTTGCTATTCCAGGGCCAGTTCTGATCACTTGCAATCAACTGAAACTGACAGTGAAACCAGGCCCTTAGTAGTCCCCCACACTGGGGGGGCCCCAAGCCCCACCTACTGGTCATTAAGAGAGAAAAAAAGCAGCAACTGCCTGGGTGGGGCAGGAAAGCTGCAATAAAGTGCCATTTAAACCAAGCTAAAGCACTATGTTTGCGCTTAGCGGGCAGAATATCTGAGGGCCACACACAGCATGGAAGGGAGAGGTCTGCCCACTTTCTCATATAT... | pathogenic | 215,828 |
Is the genetic variant on chromosome 13, position 51961911, gene ATP7B (ATPase copper transporting beta), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Wilson_disease'] | AGCAAGGAGGTTGCTATTCCAGGGCCAGTTCTGATCACTTGCAATCAACTGAAACTGACAGTGAAACCAGGCCCTTAGTAGTCCCCCACACTGGGGGGGCCCCAAGCCCCACCTACTGGTCATTAAGAGAGAAAAAAAGCAGCAACTGCCTGGGTGGGGCAGGAAAGCTGCAATAAAGTGCCATTTAAACCAAGCTAAAGCACTATGTTTGCGCTTAGCGGGCAGAATATCTGAGGGCCACACACAGCATGGAAGGGAGAGGTCTGCCCACTTTCTCATATATACCTGGACAAAGGTACACAAGATAAAGAAGATGAGAT... | AGCAAGGAGGTTGCTATTCCAGGGCCAGTTCTGATCACTTGCAATCAACTGAAACTGACAGTGAAACCAGGCCCTTAGTAGTCCCCCACACTGGGGGGGCCCCAAGCCCCACCTACTGGTCATTAAGAGAGAAAAAAAGCAGCAACTGCCTGGGTGGGGCAGGAAAGCTGCAATAAAGTGCCATTTAAACCAAGCTAAAGCACTATGTTTGCGCTTAGCGGGCAGAATATCTGAGGGCCACACACAGCATGGAAGGGAGAGGTCTGCCCACTTTCTCATATATACCTGGACAAAGGTACACAAGATAAAGAAGATGAGAT... | pathogenic | 215,833 |
A mutation at chromosome position 51964920 on chromosome 13 in gene ATP7B (ATPase copper transporting beta): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Wilson_disease'] | ACCTGAGGTCAGGAGTTCGAGACCAGCCTGACAAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCATACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACACCAACTCAAAAAAAAAAAGAAAGAAAGAAATCAGAAATGGTGACTAAGTTGTGTTCAAAAGCACCACATGGGACTCTCCTTGCTGTTGACTGCATCAGTCTGATGT... | ACCTGAGGTCAGGAGTTCGAGACCAGCCTGACAAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCATACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACACCAACTCAAAAAAAAAAAGAAAGAAAGAAATCAGAAATGGTGACTAAGTTGTGTTCAAAAGCACCACATGGGACTCTCCTTGCTGTTGACTGCATCAGTCTGATGT... | pathogenic | 215,842 |
Does the variant on chromosome 13 at location 51964927 affecting gene ATP7B (ATPase copper transporting beta) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Wilson_disease'] | GTCAGGAGTTCGAGACCAGCCTGACAAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCATACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACACCAACTCAAAAAAAAAAAGAAAGAAAGAAATCAGAAATGGTGACTAAGTTGTGTTCAAAAGCACCACATGGGACTCTCCTTGCTGTTGACTGCATCAGTCTGATGTCTGAGCC... | GTCAGGAGTTCGAGACCAGCCTGACAAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCATACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACACCAACTCAAAAAAAAAAAGAAAGAAAGAAATCAGAAATGGTGACTAAGTTGTGTTCAAAAGCACCACATGGGACTCTCCTTGCTGTTGACTGCATCAGTCTGATGTCTGAGCC... | pathogenic | 215,843 |
Does the chromosome 13 mutation at position 51964958 within gene ATP7B (ATPase copper transporting beta) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Wilson_disease'] | GGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCATACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACACCAACTCAAAAAAAAAAAGAAAGAAAGAAATCAGAAATGGTGACTAAGTTGTGTTCAAAAGCACCACATGGGACTCTCCTTGCTGTTGACTGCATCAGTCTGATGTCTGAGCCTCATCAATGCCATATCACTACTGTTCTTTAA... | GGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCATACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACACCAACTCAAAAAAAAAAAGAAAGAAAGAAATCAGAAATGGTGACTAAGTTGTGTTCAAAAGCACCACATGGGACTCTCCTTGCTGTTGACTGCATCAGTCTGATGTCTGAGCCTCATCAATGCCATATCACTACTGTTCTTTAA... | pathogenic | 215,845 |
For chromosome 13, position 51964994, gene ATP7B (ATPase copper transporting beta): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Wilson_disease'] | GCCAGGCGTGGTGGTGCATACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACACCAACTCAAAAAAAAAAAGAAAGAAAGAAATCAGAAATGGTGACTAAGTTGTGTTCAAAAGCACCACATGGGACTCTCCTTGCTGTTGACTGCATCAGTCTGATGTCTGAGCCTCATCAATGCCATATCACTACTGTTCTTTAAGATTTGTGGTGTACTAGACTCACAAAGGCCACTGAG... | GCCAGGCGTGGTGGTGCATACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACACCAACTCAAAAAAAAAAAGAAAGAAAGAAATCAGAAATGGTGACTAAGTTGTGTTCAAAAGCACCACATGGGACTCTCCTTGCTGTTGACTGCATCAGTCTGATGTCTGAGCCTCATCAATGCCATATCACTACTGTTCTTTAAGATTTGTGGTGTACTAGACTCACAAAGGCCACTGAG... | pathogenic | 215,851 |
Located at chromosome 13 position 51964994, the variant affecting gene ATP7B (ATPase copper transporting beta)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Inborn_genetic_diseases', 'Spastic_ataxia', 'Wilson_disease'] | GCCAGGCGTGGTGGTGCATACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACACCAACTCAAAAAAAAAAAGAAAGAAAGAAATCAGAAATGGTGACTAAGTTGTGTTCAAAAGCACCACATGGGACTCTCCTTGCTGTTGACTGCATCAGTCTGATGTCTGAGCCTCATCAATGCCATATCACTACTGTTCTTTAAGATTTGTGGTGTACTAGACTCACAAAGGCCACTGAG... | GCCAGGCGTGGTGGTGCATACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACACCAACTCAAAAAAAAAAAGAAAGAAAGAAATCAGAAATGGTGACTAAGTTGTGTTCAAAAGCACCACATGGGACTCTCCTTGCTGTTGACTGCATCAGTCTGATGTCTGAGCCTCATCAATGCCATATCACTACTGTTCTTTAAGATTTGTGGTGTACTAGACTCACAAAGGCCACTGAG... | pathogenic | 215,852 |
Chromosome 13, position 51965001, gene ATP7B (ATPase copper transporting beta): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Wilson_disease'] | GTGGTGGTGCATACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACACCAACTCAAAAAAAAAAAGAAAGAAAGAAATCAGAAATGGTGACTAAGTTGTGTTCAAAAGCACCACATGGGACTCTCCTTGCTGTTGACTGCATCAGTCTGATGTCTGAGCCTCATCAATGCCATATCACTACTGTTCTTTAAGATTTGTGGTGTACTAGACTCACAAAGGCCACTGAGCTCGGAA... | GTGGTGGTGCATACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACACCAACTCAAAAAAAAAAAGAAAGAAAGAAATCAGAAATGGTGACTAAGTTGTGTTCAAAAGCACCACATGGGACTCTCCTTGCTGTTGACTGCATCAGTCTGATGTCTGAGCCTCATCAATGCCATATCACTACTGTTCTTTAAGATTTGTGGTGTACTAGACTCACAAAGGCCACTGAGCTCGGAA... | pathogenic | 215,853 |
Located at chromosome 13 position 51965024, the variant affecting gene ATP7B (ATPase copper transporting beta)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Wilson_disease'] | CAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACACCAACTCAAAAAAAAAAAGAAAGAAAGAAATCAGAAATGGTGACTAAGTTGTGTTCAAAAGCACCACATGGGACTCTCCTTGCTGTTGACTGCATCAGTCTGATGTCTGAGCCTCATCAATGCCATATCACTACTGTTCTTTAAGATTTGTGGTGTACTAGACTCACAAAGGCCACTGAGCTCGGAAGCACAAGACCTGGGTTTGAACAC... | CAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACACCAACTCAAAAAAAAAAAGAAAGAAAGAAATCAGAAATGGTGACTAAGTTGTGTTCAAAAGCACCACATGGGACTCTCCTTGCTGTTGACTGCATCAGTCTGATGTCTGAGCCTCATCAATGCCATATCACTACTGTTCTTTAAGATTTGTGGTGTACTAGACTCACAAAGGCCACTGAGCTCGGAAGCACAAGACCTGGGTTTGAACAC... | pathogenic | 215,857 |
Is chromosome 13, position 51968427, gene ATP7B (ATPase copper transporting beta) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Wilson_disease'] | TCAGAAGTATCCCTGCAGCGACAGGGCCAAAACTCAAACCCGGTTTTTAAAGCCTACACCGCTTGTGCCGTACCATGTTGTGTATCCTGACATGGGAAAGGGAAGTCTTAAGTGTGACGTGCTATTCCTGGGATATGTATTAGGCAAATATGAAGCAAACAGACAATTCACTCTTCTGAGTATCAGTGGTCAGCACTTCCTAGAAGACTAGTTAAATGCAGAAATTCACATAAAATCTGAATATGTGATGACAATGCAACTATTGATACAGCATGGTTTTTTTAAAAAAAGAACACTACAGACACAGCATGCTGCCATGC... | TCAGAAGTATCCCTGCAGCGACAGGGCCAAAACTCAAACCCGGTTTTTAAAGCCTACACCGCTTGTGCCGTACCATGTTGTGTATCCTGACATGGGAAAGGGAAGTCTTAAGTGTGACGTGCTATTCCTGGGATATGTATTAGGCAAATATGAAGCAAACAGACAATTCACTCTTCTGAGTATCAGTGGTCAGCACTTCCTAGAAGACTAGTTAAATGCAGAAATTCACATAAAATCTGAATATGTGATGACAATGCAACTATTGATACAGCATGGTTTTTTTAAAAAAAGAACACTACAGACACAGCATGCTGCCATGC... | pathogenic | 215,865 |
Is chromosome 13, position 51968433, gene ATP7B (ATPase copper transporting beta) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Wilson_disease'] | GTATCCCTGCAGCGACAGGGCCAAAACTCAAACCCGGTTTTTAAAGCCTACACCGCTTGTGCCGTACCATGTTGTGTATCCTGACATGGGAAAGGGAAGTCTTAAGTGTGACGTGCTATTCCTGGGATATGTATTAGGCAAATATGAAGCAAACAGACAATTCACTCTTCTGAGTATCAGTGGTCAGCACTTCCTAGAAGACTAGTTAAATGCAGAAATTCACATAAAATCTGAATATGTGATGACAATGCAACTATTGATACAGCATGGTTTTTTTAAAAAAAGAACACTACAGACACAGCATGCTGCCATGCCGACGT... | GTATCCCTGCAGCGACAGGGCCAAAACTCAAACCCGGTTTTTAAAGCCTACACCGCTTGTGCCGTACCATGTTGTGTATCCTGACATGGGAAAGGGAAGTCTTAAGTGTGACGTGCTATTCCTGGGATATGTATTAGGCAAATATGAAGCAAACAGACAATTCACTCTTCTGAGTATCAGTGGTCAGCACTTCCTAGAAGACTAGTTAAATGCAGAAATTCACATAAAATCTGAATATGTGATGACAATGCAACTATTGATACAGCATGGTTTTTTTAAAAAAAGAACACTACAGACACAGCATGCTGCCATGCCGACGT... | pathogenic | 215,866 |
Evaluate the clinical significance of the mutation at chromosome 13, position 51968496 in gene ATP7B (ATPase copper transporting beta): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Wilson_disease'] | GTACCATGTTGTGTATCCTGACATGGGAAAGGGAAGTCTTAAGTGTGACGTGCTATTCCTGGGATATGTATTAGGCAAATATGAAGCAAACAGACAATTCACTCTTCTGAGTATCAGTGGTCAGCACTTCCTAGAAGACTAGTTAAATGCAGAAATTCACATAAAATCTGAATATGTGATGACAATGCAACTATTGATACAGCATGGTTTTTTTAAAAAAAGAACACTACAGACACAGCATGCTGCCATGCCGACGTAGACCCTGCTCTGCACGCCAGCCCGCCCGCACCCACCATGGCCACAGTTCAGCAGCTGGAAGG... | GTACCATGTTGTGTATCCTGACATGGGAAAGGGAAGTCTTAAGTGTGACGTGCTATTCCTGGGATATGTATTAGGCAAATATGAAGCAAACAGACAATTCACTCTTCTGAGTATCAGTGGTCAGCACTTCCTAGAAGACTAGTTAAATGCAGAAATTCACATAAAATCTGAATATGTGATGACAATGCAACTATTGATACAGCATGGTTTTTTTAAAAAAAGAACACTACAGACACAGCATGCTGCCATGCCGACGTAGACCCTGCTCTGCACGCCAGCCCGCCCGCACCCACCATGGCCACAGTTCAGCAGCTGGAAGG... | pathogenic | 215,873 |
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