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 |
|---|---|---|---|---|---|
Located at chromosome 17 position 1361317, the variant affecting gene YWHAE (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | ATGAGTGCACAACTGCAGAGACAGAACAAGATCCTGTCCGGAAAAAAAAGTTACCCACAGAATTTTCAGTCCCAATTCCACCTCAAGGTGAAGTTAAATACAAGGACTCAAGCAAATACTTAGTGCACCCATTTTCATAGCAGCATTGTACTCACCATAGGGAAAAGGTGGAAACCCACTGACCACCAAAAGTTTAATGACTAAACAATGTGTGCAAAATACATAAAATGAATTGTGTAAATTCAGTCACTAAAAGGACTGAAGCTCTGATCCATGCTTTTACATGGATAAAAACATTACGCTAGATGAAATAAAGACAG... | ATGAGTGCACAACTGCAGAGACAGAACAAGATCCTGTCCGGAAAAAAAAGTTACCCACAGAATTTTCAGTCCCAATTCCACCTCAAGGTGAAGTTAAATACAAGGACTCAAGCAAATACTTAGTGCACCCATTTTCATAGCAGCATTGTACTCACCATAGGGAAAAGGTGGAAACCCACTGACCACCAAAAGTTTAATGACTAAACAATGTGTGCAAAATACATAAAATGAATTGTGTAAATTCAGTCACTAAAAGGACTGAAGCTCTGATCCATGCTTTTACATGGATAAAAACATTACGCTAGATGAAATAAAGACAG... | benign | 260,391 |
Is chromosome 17, position 1362010, gene YWHAE (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GAGAGAGAGAGAGAGATTTGAAAAAAAGTCTCACTGTGTCACCCAGGCTACAGTGTACTGGTGCAATCGAGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAACAATTCTCCTGTCTCAGCCTCCCGAGTAACTGGGATTGCAGGCATGCACCACCACACCCGGCTAATTTTGTATTTTTAATAGAGACAGAGTTTCACCATGTTGGTCAGGTTGGTATCGAACTCCTGATCTCAGGTGACCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGGCTATCACAACTTTTTAAAAGT... | GAGAGAGAGAGAGAGATTTGAAAAAAAGTCTCACTGTGTCACCCAGGCTACAGTGTACTGGTGCAATCGAGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAACAATTCTCCTGTCTCAGCCTCCCGAGTAACTGGGATTGCAGGCATGCACCACCACACCCGGCTAATTTTGTATTTTTAATAGAGACAGAGTTTCACCATGTTGGTCAGGTTGGTATCGAACTCCTGATCTCAGGTGACCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGGCTATCACAACTTTTTAAAAGT... | benign | 260,394 |
The genetic variant at chromosome 17, position 1509161, affecting gene INPP5K (inositol polyphosphate-5-phosphatase K): benign or pathogenic? Disease name(s) if pathogenic? | benign | GTCTCCCAGTAGTCTCGACCCAGTGGCCCAGTACCACACTCCATTCAAGGGATCAGCACATGCCGTCACAAATGGGGCAAGAGTCAAGCAATGCCACTCCAATTCCTCACTGCCCCAGTGACTACTCAGCAGCCCACTCCCACCAGAAAGCAGGCGAATCCTTTCGGAAACATTACCAAGGCCCAGGGGAGGCAGCTGTCTGCCGTTTCCCAGTCCTTAGACTGCAGGGACCCAACTTGGAATTCCATCTCTAGGGGAGATCACTAGCAGACATGTGTCAGAGGGGAACCTGGGGAAGCCAGGGTTCTCCAAAGGGGCAC... | GTCTCCCAGTAGTCTCGACCCAGTGGCCCAGTACCACACTCCATTCAAGGGATCAGCACATGCCGTCACAAATGGGGCAAGAGTCAAGCAATGCCACTCCAATTCCTCACTGCCCCAGTGACTACTCAGCAGCCCACTCCCACCAGAAAGCAGGCGAATCCTTTCGGAAACATTACCAAGGCCCAGGGGAGGCAGCTGTCTGCCGTTTCCCAGTCCTTAGACTGCAGGGACCCAACTTGGAATTCCATCTCTAGGGGAGATCACTAGCAGACATGTGTCAGAGGGGAACCTGGGGAAGCCAGGGTTCTCCAAAGGGGCAC... | benign | 260,516 |
The genetic variant at chromosome 17, position 1650815, affecting gene PRPF8 (pre-mRNA processing factor 8): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic | GGGCTGGGTCCTTGCCCTCATACGGCACTCACCGGGTCCTCAGGGTTCCCTGGGGCGCCTGCGCCGGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGG... | GGGCTGGGTCCTTGCCCTCATACGGCACTCACCGGGTCCTCAGGGTTCCCTGGGGCGCCTGCGCCGGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGG... | pathogenic | 260,524 |
The mutation in gene PRPF8 (pre-mRNA processing factor 8) at chromosome 17, position 1650818—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic | CTGGGTCCTTGCCCTCATACGGCACTCACCGGGTCCTCAGGGTTCCCTGGGGCGCCTGCGCCGGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCC... | CTGGGTCCTTGCCCTCATACGGCACTCACCGGGTCCTCAGGGTTCCCTGGGGCGCCTGCGCCGGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCC... | pathogenic | 260,525 |
Assess the variant on chromosome 17, position 1650839, impacting PRPF8 (pre-mRNA processing factor 8): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_13'] | GCACTCACCGGGTCCTCAGGGTTCCCTGGGGCGCCTGCGCCGGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCC... | GCACTCACCGGGTCCTCAGGGTTCCCTGGGGCGCCTGCGCCGGCGGTCGCCCATTCGGGCTCCTGTCCGTGCTGGTGCCCGGGCCGCCCGGCCTGCCCCCGCGCTCGCTCTTTAGCCTGCGGAGTCGCGGCTTCGCCAGGCTGCTGGCGCTCCCTCTCGCGGTCCTGCGCGGCGCGCAGCTGGGTCTGCATGGCCGCCAGCTTGTGCCGCAGCTCAGCGTTCACCAGCAGGAGGCGCTGCAGCTGCTCCTGCAACTGGGAGCGGAGCAAAGGGTGGGGTGGGCGGGGCACCGAGGGCCCCCCGGAGCCCCGCCCAGCGCC... | pathogenic | 260,527 |
Determine whether the variant at chromosome 17, position 1677176, in gene PRPF8 (pre-mRNA processing factor 8) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CATGCTACTGCGCCTGAGACGCACCTTATAGTTGATGACGACGTTGTTCTTGGCTGTCATGTAGTCGGCTATGTTGTGGTCCACGATGAGGCGCAGCAGCCTGTTGAGCAGAGTCAAGTCGATCTTCTCATACATCTTCTCAAAGCGGGATTCCAGCATGACATTGCACTCGCCTTCACTCGTCTCCCACACGTCCTGCAGGTTATTGATGCCTGAGGAGTAGCAAGGCAGGTCTCCAGCAGGTTAGAAATCCTCTTGCAAGACTAGCCCCACAGGAACTATCATTACCTTCCATAACCAATCCCACTATGATTCCACGT... | CATGCTACTGCGCCTGAGACGCACCTTATAGTTGATGACGACGTTGTTCTTGGCTGTCATGTAGTCGGCTATGTTGTGGTCCACGATGAGGCGCAGCAGCCTGTTGAGCAGAGTCAAGTCGATCTTCTCATACATCTTCTCAAAGCGGGATTCCAGCATGACATTGCACTCGCCTTCACTCGTCTCCCACACGTCCTGCAGGTTATTGATGCCTGAGGAGTAGCAAGGCAGGTCTCCAGCAGGTTAGAAATCCTCTTGCAAGACTAGCCCCACAGGAACTATCATTACCTTCCATAACCAATCCCACTATGATTCCACGT... | benign | 260,592 |
Gene SERPINF1 (serpin family F member 1) variant at chromosome position 1766981 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Osteogenesis_imperfecta_type_6'] | TCCTGGATTCAAGTGATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGATGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGTTTGAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTGAGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCACCTCCCAAGTTCAAGTGATTCTC... | TCCTGGATTCAAGTGATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGCCAGGATGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGTTTGAGCCACTGCGCCTGGCCTTTTTTTTTTTTTTTGAGATGGAGTTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCACCTCCCAAGTTCAAGTGATTCTC... | pathogenic | 260,688 |
Variant chromosome 17, position 1770026, gene SERPINF1: benign or pathogenic? Disease(s)? | pathogenic; ['Osteogenesis_imperfecta'] | TGATCCCTTGAATCCAGGAGTTTGAGACCAGCATAGGCAACATAGTGAGACCCCTGTCTCTACAAAAAAGCAAAAATTACCAGGCGTGGTGGCAAGTGCTTGTGGTACTACCTACTTGGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGATTAAGACTGCAGTGAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTG... | TGATCCCTTGAATCCAGGAGTTTGAGACCAGCATAGGCAACATAGTGAGACCCCTGTCTCTACAAAAAAGCAAAAATTACCAGGCGTGGTGGCAAGTGCTTGTGGTACTACCTACTTGGGAAGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGATTAAGACTGCAGTGAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTG... | pathogenic | 260,695 |
Considering the genetic mutation at chromosome 17, position 1775066, impacting SERPINF1 (serpin family F member 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Osteogenesis_imperfecta_type_6'] | GGCTTGGAAAGGGAGGTGTCAAAGACCTTGCCCAGCATGGAGTCTGGGTCACAGCTGGGGGAGGATCTGGGAACTGTGCTTGCCTGAAGCTTACCTGCTTGTCATCAAATCCAAGGCAAGGCGTGAATGTCTATAGAGTGAGAGACTTGTGGAGACAGAAGAGCAGAGAGGGAGGAAGAATGAACACTGGGTCTGTTTGGGGCTTTCCCAGCTTTTGAGTCAGACAAGATTTATTTATTTATTTAAGATGGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTTGGCTCACTACAGCCTCCCCACCTCC... | GGCTTGGAAAGGGAGGTGTCAAAGACCTTGCCCAGCATGGAGTCTGGGTCACAGCTGGGGGAGGATCTGGGAACTGTGCTTGCCTGAAGCTTACCTGCTTGTCATCAAATCCAAGGCAAGGCGTGAATGTCTATAGAGTGAGAGACTTGTGGAGACAGAAGAGCAGAGAGGGAGGAAGAATGAACACTGGGTCTGTTTGGGGCTTTCCCAGCTTTTGAGTCAGACAAGATTTATTTATTTATTTAAGATGGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTTGGCTCACTACAGCCTCCCCACCTCC... | pathogenic | 260,714 |
Evaluate if the mutation on chromosome 17 at position 1777333 in SERPINF1 (serpin family F member 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Osteogenesis_imperfecta_type_6'] | TTGAGATCCGACAGCTGTCTACATGTCGCCTGCTGTGTGACTTTGAGCAGGTTAATAACATGTCTGAGCTTTCCTCCTCTTAAGATGGGGCAGGGGATCGTTACCAACACTTACCCTCCCAGGGTTTGTTGTAAGGACGAATAAGGTAATAGGAAATGGGCCCTCAGACTGGGCACCCACATGTTTGTTCTCTTGAGACTCCTATTTCTAGAATTTAAAGCCAAACTTTGAAAAATAATGACAAACTCCAAATCGTTGGCATCTTTTTTTTTTTTTTTGAGACAGTCTCGCTCTGTCGGCCAGGCTGGAGTGCAGTGGCA... | TTGAGATCCGACAGCTGTCTACATGTCGCCTGCTGTGTGACTTTGAGCAGGTTAATAACATGTCTGAGCTTTCCTCCTCTTAAGATGGGGCAGGGGATCGTTACCAACACTTACCCTCCCAGGGTTTGTTGTAAGGACGAATAAGGTAATAGGAAATGGGCCCTCAGACTGGGCACCCACATGTTTGTTCTCTTGAGACTCCTATTTCTAGAATTTAAAGCCAAACTTTGAAAAATAATGACAAACTCCAAATCGTTGGCATCTTTTTTTTTTTTTTTGAGACAGTCTCGCTCTGTCGGCCAGGCTGGAGTGCAGTGGCA... | pathogenic | 260,726 |
Determine whether the variant at chromosome 17, position 2666046, in gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Lissencephaly_due_to_LIS1_mutation'] | TCTTGAACTTCTGACCTTGTGATTTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCTGGCCTAACCCTGTAATTATTATACGTTGATTTTTGGCATGCTCATAATTACCTGGAACATAAAGTTTTTGCTGGTAATTCCCTGTTATCTTTCTTTGCTGATTTGTTTTAAACATACCATTGAATTAAAGCCAGTAATCCCACCAGTTATACAATACTACTGGAGTGTGTTTTGTTTTGTATTTTGAGACGTAGTTTCGCTGTTGTTGCCTAGGCTGGAGTGCAGTGGCACGAACTGGGCTCA... | TCTTGAACTTCTGACCTTGTGATTTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCTGGCCTAACCCTGTAATTATTATACGTTGATTTTTGGCATGCTCATAATTACCTGGAACATAAAGTTTTTGCTGGTAATTCCCTGTTATCTTTCTTTGCTGATTTGTTTTAAACATACCATTGAATTAAAGCCAGTAATCCCACCAGTTATACAATACTACTGGAGTGTGTTTTGTTTTGTATTTTGAGACGTAGTTTCGCTGTTGTTGCCTAGGCTGGAGTGCAGTGGCACGAACTGGGCTCA... | pathogenic | 260,767 |
Variant at chromosome position 2666052, chromosome 17, gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Intellectual_disability', 'Lissencephaly_due_to_LIS1_mutation', 'likely other unspecified diseases'] | ACTTCTGACCTTGTGATTTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCTGGCCTAACCCTGTAATTATTATACGTTGATTTTTGGCATGCTCATAATTACCTGGAACATAAAGTTTTTGCTGGTAATTCCCTGTTATCTTTCTTTGCTGATTTGTTTTAAACATACCATTGAATTAAAGCCAGTAATCCCACCAGTTATACAATACTACTGGAGTGTGTTTTGTTTTGTATTTTGAGACGTAGTTTCGCTGTTGTTGCCTAGGCTGGAGTGCAGTGGCACGAACTGGGCTCACCACAG... | ACTTCTGACCTTGTGATTTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCTGGCCTAACCCTGTAATTATTATACGTTGATTTTTGGCATGCTCATAATTACCTGGAACATAAAGTTTTTGCTGGTAATTCCCTGTTATCTTTCTTTGCTGATTTGTTTTAAACATACCATTGAATTAAAGCCAGTAATCCCACCAGTTATACAATACTACTGGAGTGTGTTTTGTTTTGTATTTTGAGACGTAGTTTCGCTGTTGTTGCCTAGGCTGGAGTGCAGTGGCACGAACTGGGCTCACCACAG... | pathogenic | 260,768 |
Regarding the variant at chromosome 17 and position 2666052, affecting gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Lissencephaly_due_to_LIS1_mutation'] | ACTTCTGACCTTGTGATTTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCTGGCCTAACCCTGTAATTATTATACGTTGATTTTTGGCATGCTCATAATTACCTGGAACATAAAGTTTTTGCTGGTAATTCCCTGTTATCTTTCTTTGCTGATTTGTTTTAAACATACCATTGAATTAAAGCCAGTAATCCCACCAGTTATACAATACTACTGGAGTGTGTTTTGTTTTGTATTTTGAGACGTAGTTTCGCTGTTGTTGCCTAGGCTGGAGTGCAGTGGCACGAACTGGGCTCACCACAG... | ACTTCTGACCTTGTGATTTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCGCTGGCCTAACCCTGTAATTATTATACGTTGATTTTTGGCATGCTCATAATTACCTGGAACATAAAGTTTTTGCTGGTAATTCCCTGTTATCTTTCTTTGCTGATTTGTTTTAAACATACCATTGAATTAAAGCCAGTAATCCCACCAGTTATACAATACTACTGGAGTGTGTTTTGTTTTGTATTTTGAGACGTAGTTTCGCTGTTGTTGCCTAGGCTGGAGTGCAGTGGCACGAACTGGGCTCACCACAG... | pathogenic | 260,769 |
Regarding the variant found on chromosome 17 at position 2667142 in gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Lissencephaly_due_to_LIS1_mutation'] | CATTTGAAACTTATAAATATGAAGTTTCTCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGA... | CATTTGAAACTTATAAATATGAAGTTTCTCTTCTGATGTTAAAAAAAAGAAAGAAAAACTTATAACTAAGAATATAATATTATGGATGTAGTATGACAGGGGCTAAAAGTTCTGGAGGCTTTGCGGGGGTGTCCTTTTTAATGAAATACTTGTATGATTTGAAAGGGAATACTCTTGAAAAGAGTATCTTCAGGGTTAATGAGATTTTAAATAAATTCTATTTCTTCAGAATAGAAATGAGGTCTTTTTTTTAGGAGTCATTTGAATTTTTCTTTCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGA... | pathogenic | 260,775 |
Is the genetic variant on chromosome 17, position 2670201, gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Lissencephaly_due_to_LIS1_mutation'] | CATCTCTACTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGA... | CATCTCTACTAAAATACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGA... | pathogenic | 260,778 |
Assess the variant on chromosome 17, position 2670215, impacting PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Lissencephaly_due_to_LIS1_mutation'] | TACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGA... | TACAAAAAAATTAGCTGGGCATGGCAGCGTGCGCCTGTAGTCCCAGCTACTTGGAAGGCTGAGGCAGGAAATTCGCTTGAACCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGA... | pathogenic | 260,779 |
Assess the variant on chromosome 17, position 2670296, impacting PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Lissencephaly_due_to_LIS1_mutation'] | CCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCT... | CCCAGGAGACAGGTTGCAGTTAGCCAAGATCGCTCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAGGTAGTTACAACTAACCAAATAGTAACGACGGTTTGGCCTTACTACTAACAGCAGAAGAAATAAACACTGAAATTATGGGCCGGGTGTGGTAGCTCATGCCTATAGTCCTAGGACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCTCAGGAGTTAGAGAGCAGCCTGGGCAACATAGCAAGACCTCGTCTCTACTTAAAATTAGCCAGGTATGGTGGTGCATGCCTGTAGTCCTAGCT... | pathogenic | 260,782 |
Chromosome 17, position 2672730, gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Lissencephaly_due_to_LIS1_mutation'] | CGAGCCCAGATTCTCTTGCTCACTTAAGTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATT... | CGAGCCCAGATTCTCTTGCTCACTTAAGTGAAATGAGCTGAGCGCACAGACCCCATGCCCTCGTTCATTATTTCCCGGGTCTTGTTGTGGGAACTGTTTTCTGAGGCAGTATGTTTTGTGGAAAGAGAGTAATTTGCTTTGGAGTCAGACACCTGGGTTCAAATTCCTACTTGTCTACTTACGGTATTAGAAAATTTAAACCTCTTTCATCTGCAAAACAGAGGTAATAATACCAGAGTCATAGAGTTGTCATGAGGATAAGATGAAGTCATAAGATAAATCATCTTGGTGTAGTACCTGCCACATAGGAGATGCTCATT... | pathogenic | 260,787 |
Chromosome 17, position 2674087, gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'Lissencephaly_due_to_LIS1_mutation'] | AGGAAGGATTGCTTGAGGACAGGAGTTCGAGACCAGTGTGAGCAAAATATGGAGACCTTGTCTCTACAAAAAATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTCCCTAGCGTTCATATGTAAACATTCAGACTCACTGAGGTAA... | AGGAAGGATTGCTTGAGGACAGGAGTTCGAGACCAGTGTGAGCAAAATATGGAGACCTTGTCTCTACAAAAAATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTCCCTAGCGTTCATATGTAAACATTCAGACTCACTGAGGTAA... | pathogenic | 260,794 |
Determine if the mutation at chromosome 17, position 2674158 in gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Lissencephaly_due_to_LIS1_mutation'] | AATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTCCCTAGCGTTCATATGTAAACATTCAGACTCACTGAGGTAAGTATATGAATATATTCAAATGTTGATAATCGTGATGCCTTTTGTTTTTAAACCATTTGTACAGGTTGAAAT... | AATAAAATAGTTGTGGGTGTGGTGGTACCAGATGTGGTGGTACACACCTGTGTAGTTCCAGCTACCCGACAGGCTGAGGCGGGAAGAGCTCTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTATGATTGCACCACTGCACTTTAGCCTGGGTAACAGAGCAAGTCCTTGCCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTCCCTAGCGTTCATATGTAAACATTCAGACTCACTGAGGTAAGTATATGAATATATTCAAATGTTGATAATCGTGATGCCTTTTGTTTTTAAACCATTTGTACAGGTTGAAAT... | pathogenic | 260,795 |
Mutation found at chromosome 17 position 2680178, gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Lissencephaly_due_to_LIS1_mutation'] | GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCCATCGCTGCTAAAAACACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCC... | GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCCATCGCTGCTAAAAACACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCC... | pathogenic | 260,806 |
Is the genetic mutation found on chromosome 17 at position 2680205, within the gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Lissencephaly_due_to_LIS1_mutation'] | TTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCCATCGCTGCTAAAAACACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAG... | TTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCCATCGCTGCTAAAAACACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAG... | pathogenic | 260,807 |
Is the genetic change at chromosome 17, position 2680242, within gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Lissencephaly_due_to_LIS1_mutation'] | GAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCCATCGCTGCTAAAAACACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGC... | GAGTTCGAGACCAGCCTGACCAACATGGAGGAACCCCATCGCTGCTAAAAACACAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGC... | pathogenic | 260,810 |
Is chromosome 17, position 3476190, gene ASPA variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Canavan_Disease,_Familial_Form', 'Spongy_degeneration_of_central_nervous_system'] | CACAGAAGACAAACTCTGTACACAAAAAACAAGGTAAGTATGGGAAATAATTGCTGCAATTCATTAACTCTCAAAAAAGTTATTCATTTTGACATGTAAGAGAAACTTTATTTATGAATGTGAAATGTGCTTCAAAGTGCTGATCTGTTAAAATTCCATAAAACAAGCTTCAAAATGCAAGTCATTTGTGCCAGCTACGAGTAAATAACTGAAGCAGCATTTCCAGAGAGACTAGGGCAAAGGACAGAACAAACTACAAATCAGCAGAAAAGAAACCAAGCATAGTAGAGTGTTAATAATTCACCATGGTTACTGCTCTT... | CACAGAAGACAAACTCTGTACACAAAAAACAAGGTAAGTATGGGAAATAATTGCTGCAATTCATTAACTCTCAAAAAAGTTATTCATTTTGACATGTAAGAGAAACTTTATTTATGAATGTGAAATGTGCTTCAAAGTGCTGATCTGTTAAAATTCCATAAAACAAGCTTCAAAATGCAAGTCATTTGTGCCAGCTACGAGTAAATAACTGAAGCAGCATTTCCAGAGAGACTAGGGCAAAGGACAGAACAAACTACAAATCAGCAGAAAAGAAACCAAGCATAGTAGAGTGTTAATAATTCACCATGGTTACTGCTCTT... | pathogenic | 260,835 |
Gene ASPA variant at chromosome position 3476197 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Spongy_degeneration_of_central_nervous_system'] | GACAAACTCTGTACACAAAAAACAAGGTAAGTATGGGAAATAATTGCTGCAATTCATTAACTCTCAAAAAAGTTATTCATTTTGACATGTAAGAGAAACTTTATTTATGAATGTGAAATGTGCTTCAAAGTGCTGATCTGTTAAAATTCCATAAAACAAGCTTCAAAATGCAAGTCATTTGTGCCAGCTACGAGTAAATAACTGAAGCAGCATTTCCAGAGAGACTAGGGCAAAGGACAGAACAAACTACAAATCAGCAGAAAAGAAACCAAGCATAGTAGAGTGTTAATAATTCACCATGGTTACTGCTCTTAAAACCA... | GACAAACTCTGTACACAAAAAACAAGGTAAGTATGGGAAATAATTGCTGCAATTCATTAACTCTCAAAAAAGTTATTCATTTTGACATGTAAGAGAAACTTTATTTATGAATGTGAAATGTGCTTCAAAGTGCTGATCTGTTAAAATTCCATAAAACAAGCTTCAAAATGCAAGTCATTTGTGCCAGCTACGAGTAAATAACTGAAGCAGCATTTCCAGAGAGACTAGGGCAAAGGACAGAACAAACTACAAATCAGCAGAAAAGAAACCAAGCATAGTAGAGTGTTAATAATTCACCATGGTTACTGCTCTTAAAACCA... | pathogenic | 260,836 |
Assess the variant on chromosome 17, position 3476302, impacting ASPA: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Spongy_degeneration_of_central_nervous_system'] | TATGAATGTGAAATGTGCTTCAAAGTGCTGATCTGTTAAAATTCCATAAAACAAGCTTCAAAATGCAAGTCATTTGTGCCAGCTACGAGTAAATAACTGAAGCAGCATTTCCAGAGAGACTAGGGCAAAGGACAGAACAAACTACAAATCAGCAGAAAAGAAACCAAGCATAGTAGAGTGTTAATAATTCACCATGGTTACTGCTCTTAAAACCAAAGCAACTAAACAACTGTCATCTGTTTACTTTTACGTGTGTTTTCATCATCTCTACACCGTCTGAAGTGTTCAGTGTACATGGATGTGGACAGACAGTCAAAGCC... | TATGAATGTGAAATGTGCTTCAAAGTGCTGATCTGTTAAAATTCCATAAAACAAGCTTCAAAATGCAAGTCATTTGTGCCAGCTACGAGTAAATAACTGAAGCAGCATTTCCAGAGAGACTAGGGCAAAGGACAGAACAAACTACAAATCAGCAGAAAAGAAACCAAGCATAGTAGAGTGTTAATAATTCACCATGGTTACTGCTCTTAAAACCAAAGCAACTAAACAACTGTCATCTGTTTACTTTTACGTGTGTTTTCATCATCTCTACACCGTCTGAAGTGTTCAGTGTACATGGATGTGGACAGACAGTCAAAGCC... | pathogenic | 260,843 |
Is the genetic change at chromosome 17, position 3481603, within gene ASPA benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Canavan_Disease,_Familial_Form', 'Inborn_genetic_diseases', 'Spongy_degeneration_of_central_nervous_system'] | ACCTTCCCACAGCACTGTCTCAACATGGCCCCTTCCACCTTCCCACTGCACCATCTCAACGTGGCCCTTTCCACCTTCCCCCTGCACCGACTCGACGTGGTCCCTTCTACCTTCCCAGTGCACTATCTCAAGATGCCGGCTTTGTCCTCATGGTTTTTGCTTCAAAGTCACAAAATAACTACTCCACCTTCCTGATCTCATTCCAGGCAGGAATTAGCCCATTGTACACAGTAGGTCCCTTGAAGATACTAGCAAAAATAACCAAGGAATACAAATAGATGGAATTTTAGGAAAATGTGGTTGAACGGTTTAATGAGGAA... | ACCTTCCCACAGCACTGTCTCAACATGGCCCCTTCCACCTTCCCACTGCACCATCTCAACGTGGCCCTTTCCACCTTCCCCCTGCACCGACTCGACGTGGTCCCTTCTACCTTCCCAGTGCACTATCTCAAGATGCCGGCTTTGTCCTCATGGTTTTTGCTTCAAAGTCACAAAATAACTACTCCACCTTCCTGATCTCATTCCAGGCAGGAATTAGCCCATTGTACACAGTAGGTCCCTTGAAGATACTAGCAAAAATAACCAAGGAATACAAATAGATGGAATTTTAGGAAAATGTGGTTGAACGGTTTAATGAGGAA... | pathogenic | 260,850 |
Variant in gene ASPA, located at chromosome 17 position 3481609: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Spongy_degeneration_of_central_nervous_system'] | CCACAGCACTGTCTCAACATGGCCCCTTCCACCTTCCCACTGCACCATCTCAACGTGGCCCTTTCCACCTTCCCCCTGCACCGACTCGACGTGGTCCCTTCTACCTTCCCAGTGCACTATCTCAAGATGCCGGCTTTGTCCTCATGGTTTTTGCTTCAAAGTCACAAAATAACTACTCCACCTTCCTGATCTCATTCCAGGCAGGAATTAGCCCATTGTACACAGTAGGTCCCTTGAAGATACTAGCAAAAATAACCAAGGAATACAAATAGATGGAATTTTAGGAAAATGTGGTTGAACGGTTTAATGAGGAAAAGTAA... | CCACAGCACTGTCTCAACATGGCCCCTTCCACCTTCCCACTGCACCATCTCAACGTGGCCCTTTCCACCTTCCCCCTGCACCGACTCGACGTGGTCCCTTCTACCTTCCCAGTGCACTATCTCAAGATGCCGGCTTTGTCCTCATGGTTTTTGCTTCAAAGTCACAAAATAACTACTCCACCTTCCTGATCTCATTCCAGGCAGGAATTAGCCCATTGTACACAGTAGGTCCCTTGAAGATACTAGCAAAAATAACCAAGGAATACAAATAGATGGAATTTTAGGAAAATGTGGTTGAACGGTTTAATGAGGAAAAGTAA... | pathogenic | 260,851 |
A genetic variant on chromosome 17, position 3481610, affects the gene ASPA. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Spongy_degeneration_of_central_nervous_system'] | CACAGCACTGTCTCAACATGGCCCCTTCCACCTTCCCACTGCACCATCTCAACGTGGCCCTTTCCACCTTCCCCCTGCACCGACTCGACGTGGTCCCTTCTACCTTCCCAGTGCACTATCTCAAGATGCCGGCTTTGTCCTCATGGTTTTTGCTTCAAAGTCACAAAATAACTACTCCACCTTCCTGATCTCATTCCAGGCAGGAATTAGCCCATTGTACACAGTAGGTCCCTTGAAGATACTAGCAAAAATAACCAAGGAATACAAATAGATGGAATTTTAGGAAAATGTGGTTGAACGGTTTAATGAGGAAAAGTAAA... | CACAGCACTGTCTCAACATGGCCCCTTCCACCTTCCCACTGCACCATCTCAACGTGGCCCTTTCCACCTTCCCCCTGCACCGACTCGACGTGGTCCCTTCTACCTTCCCAGTGCACTATCTCAAGATGCCGGCTTTGTCCTCATGGTTTTTGCTTCAAAGTCACAAAATAACTACTCCACCTTCCTGATCTCATTCCAGGCAGGAATTAGCCCATTGTACACAGTAGGTCCCTTGAAGATACTAGCAAAAATAACCAAGGAATACAAATAGATGGAATTTTAGGAAAATGTGGTTGAACGGTTTAATGAGGAAAAGTAAA... | pathogenic | 260,852 |
Chromosome 17, position 3481686, gene ASPA: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Canavan_Disease,_Familial_Form', 'Spongy_degeneration_of_central_nervous_system'] | GCACCGACTCGACGTGGTCCCTTCTACCTTCCCAGTGCACTATCTCAAGATGCCGGCTTTGTCCTCATGGTTTTTGCTTCAAAGTCACAAAATAACTACTCCACCTTCCTGATCTCATTCCAGGCAGGAATTAGCCCATTGTACACAGTAGGTCCCTTGAAGATACTAGCAAAAATAACCAAGGAATACAAATAGATGGAATTTTAGGAAAATGTGGTTGAACGGTTTAATGAGGAAAAGTAAATGAAAAACATTATTATATCTAGAAAAAAAATGTATCTTAACCATTGTGGGAAGTGGGGAGAGGGTAGAGGCCCATT... | GCACCGACTCGACGTGGTCCCTTCTACCTTCCCAGTGCACTATCTCAAGATGCCGGCTTTGTCCTCATGGTTTTTGCTTCAAAGTCACAAAATAACTACTCCACCTTCCTGATCTCATTCCAGGCAGGAATTAGCCCATTGTACACAGTAGGTCCCTTGAAGATACTAGCAAAAATAACCAAGGAATACAAATAGATGGAATTTTAGGAAAATGTGGTTGAACGGTTTAATGAGGAAAAGTAAATGAAAAACATTATTATATCTAGAAAAAAAATGTATCTTAACCATTGTGGGAAGTGGGGAGAGGGTAGAGGCCCATT... | pathogenic | 260,856 |
Chromosome 17, position 3481723, gene ASPA: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'Spongy_degeneration_of_central_nervous_system'] | CACTATCTCAAGATGCCGGCTTTGTCCTCATGGTTTTTGCTTCAAAGTCACAAAATAACTACTCCACCTTCCTGATCTCATTCCAGGCAGGAATTAGCCCATTGTACACAGTAGGTCCCTTGAAGATACTAGCAAAAATAACCAAGGAATACAAATAGATGGAATTTTAGGAAAATGTGGTTGAACGGTTTAATGAGGAAAAGTAAATGAAAAACATTATTATATCTAGAAAAAAAATGTATCTTAACCATTGTGGGAAGTGGGGAGAGGGTAGAGGCCCATTTGAGAATGGAAGAAAAACTACTGGCCCTTGTGCCAGA... | CACTATCTCAAGATGCCGGCTTTGTCCTCATGGTTTTTGCTTCAAAGTCACAAAATAACTACTCCACCTTCCTGATCTCATTCCAGGCAGGAATTAGCCCATTGTACACAGTAGGTCCCTTGAAGATACTAGCAAAAATAACCAAGGAATACAAATAGATGGAATTTTAGGAAAATGTGGTTGAACGGTTTAATGAGGAAAAGTAAATGAAAAACATTATTATATCTAGAAAAAAAATGTATCTTAACCATTGTGGGAAGTGGGGAGAGGGTAGAGGCCCATTTGAGAATGGAAGAAAAACTACTGGCCCTTGTGCCAGA... | pathogenic | 260,858 |
Evaluate the clinical significance of the mutation at chromosome 17, position 3481747 in gene ASPA: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Spongy_degeneration_of_central_nervous_system'] | TCCTCATGGTTTTTGCTTCAAAGTCACAAAATAACTACTCCACCTTCCTGATCTCATTCCAGGCAGGAATTAGCCCATTGTACACAGTAGGTCCCTTGAAGATACTAGCAAAAATAACCAAGGAATACAAATAGATGGAATTTTAGGAAAATGTGGTTGAACGGTTTAATGAGGAAAAGTAAATGAAAAACATTATTATATCTAGAAAAAAAATGTATCTTAACCATTGTGGGAAGTGGGGAGAGGGTAGAGGCCCATTTGAGAATGGAAGAAAAACTACTGGCCCTTGTGCCAGAAAAAAAATACATATATCTGTACCT... | TCCTCATGGTTTTTGCTTCAAAGTCACAAAATAACTACTCCACCTTCCTGATCTCATTCCAGGCAGGAATTAGCCCATTGTACACAGTAGGTCCCTTGAAGATACTAGCAAAAATAACCAAGGAATACAAATAGATGGAATTTTAGGAAAATGTGGTTGAACGGTTTAATGAGGAAAAGTAAATGAAAAACATTATTATATCTAGAAAAAAAATGTATCTTAACCATTGTGGGAAGTGGGGAGAGGGTAGAGGCCCATTTGAGAATGGAAGAAAAACTACTGGCCCTTGTGCCAGAAAAAAAATACATATATCTGTACCT... | pathogenic | 260,860 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 3483501, gene ASPA. What disease(s) is it linked to if pathogenic? | pathogenic; ['Abnormality_of_metabolism/homeostasis', 'Spongy_degeneration_of_central_nervous_system'] | TATAAACATTTCAGGTAAGTTTTTACTTACCACACAGATTTTTCATATTAAAGATTTGGCGACTGGTTCTTTTTACACTGTGTTCTTATTATATGTTTATATTATCTCAGGCACAGATGTTGTTCATCTTTTTCTTTCTGCTTATAACAGCAAAAAAATGTCAGAAGATTTGCCATATGAAGTGAGAAGGGCTCAAGAAATAAATCATTTATTTGGTCCAAAAGACAGTGAAGATTCCTATGACATTATTTTTGACCTTCACAACACCACCTCTAACATGGGGTGCACTCTTATTCTTGAGGATTCCAGGAATAACTTTT... | TATAAACATTTCAGGTAAGTTTTTACTTACCACACAGATTTTTCATATTAAAGATTTGGCGACTGGTTCTTTTTACACTGTGTTCTTATTATATGTTTATATTATCTCAGGCACAGATGTTGTTCATCTTTTTCTTTCTGCTTATAACAGCAAAAAAATGTCAGAAGATTTGCCATATGAAGTGAGAAGGGCTCAAGAAATAAATCATTTATTTGGTCCAAAAGACAGTGAAGATTCCTATGACATTATTTTTGACCTTCACAACACCACCTCTAACATGGGGTGCACTCTTATTCTTGAGGATTCCAGGAATAACTTTT... | pathogenic | 260,864 |
Variant at chromosome position 3483521, chromosome 17, gene ASPA: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Spongy_degeneration_of_central_nervous_system'] | TTTTACTTACCACACAGATTTTTCATATTAAAGATTTGGCGACTGGTTCTTTTTACACTGTGTTCTTATTATATGTTTATATTATCTCAGGCACAGATGTTGTTCATCTTTTTCTTTCTGCTTATAACAGCAAAAAAATGTCAGAAGATTTGCCATATGAAGTGAGAAGGGCTCAAGAAATAAATCATTTATTTGGTCCAAAAGACAGTGAAGATTCCTATGACATTATTTTTGACCTTCACAACACCACCTCTAACATGGGGTGCACTCTTATTCTTGAGGATTCCAGGAATAACTTTTTAATTCAGATGTTTCATTAC... | TTTTACTTACCACACAGATTTTTCATATTAAAGATTTGGCGACTGGTTCTTTTTACACTGTGTTCTTATTATATGTTTATATTATCTCAGGCACAGATGTTGTTCATCTTTTTCTTTCTGCTTATAACAGCAAAAAAATGTCAGAAGATTTGCCATATGAAGTGAGAAGGGCTCAAGAAATAAATCATTTATTTGGTCCAAAAGACAGTGAAGATTCCTATGACATTATTTTTGACCTTCACAACACCACCTCTAACATGGGGTGCACTCTTATTCTTGAGGATTCCAGGAATAACTTTTTAATTCAGATGTTTCATTAC... | pathogenic | 260,866 |
A genetic variant on chromosome 17, position 3489315, affects the gene ASPA. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Spongy_degeneration_of_central_nervous_system'] | AGAAAGATTGTCTCTCTAATGTTAAACATGCTTTTTTCCCAGTGAGTGCATGATATAAAATATTCCAAATAAAACAGCAAAGTTGGAAGGAGAACATATAACATTTCTAATTATTTACAATGAGCTTAATACTCCCTCATATTGAAATATTTTAAAGATTTGGCTCAACTTGTAAGGGCCAAACATATCAGCAATGTTTGTTCTGGCTAAGAGTAGCATTGCCTACAAATATCATAGCCTAAGATTGATATTTGAGAGTTTGGAAATCTTAAGCTTTTATTTGGTGTCACAGAGAAACAGGATCTGTATCTCTTATTGCT... | AGAAAGATTGTCTCTCTAATGTTAAACATGCTTTTTTCCCAGTGAGTGCATGATATAAAATATTCCAAATAAAACAGCAAAGTTGGAAGGAGAACATATAACATTTCTAATTATTTACAATGAGCTTAATACTCCCTCATATTGAAATATTTTAAAGATTTGGCTCAACTTGTAAGGGCCAAACATATCAGCAATGTTTGTTCTGGCTAAGAGTAGCATTGCCTACAAATATCATAGCCTAAGATTGATATTTGAGAGTTTGGAAATCTTAAGCTTTTATTTGGTGTCACAGAGAAACAGGATCTGTATCTCTTATTGCT... | pathogenic | 260,881 |
Is the genetic change at chromosome 17, position 3498971, within gene ASPA benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Spongy_degeneration_of_central_nervous_system'] | GGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGCCTGAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGA... | GGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGCCTGAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGA... | pathogenic | 260,896 |
Gene mutation in ASPA at chromosome 17, position 3498975—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Spongy_degeneration_of_central_nervous_system'] | ATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGCCTGAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAG... | ATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGCCTGAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAG... | pathogenic | 260,897 |
Variant in ASPA, chromosome 17, position 3499015—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Canavan_Disease,_Familial_Form', 'Spongy_degeneration_of_central_nervous_system'] | GAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAA... | GAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAA... | pathogenic | 260,908 |
Mutation at chromosome 17, position 3499027, within ASPA: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Spongy_degeneration_of_central_nervous_system'] | TTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAG... | TTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAG... | pathogenic | 260,909 |
Classify the chromosome 17 variant at position 3513849 affecting gene SPATA22 as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | ACGGCTTTATCCATAACAGATACGGCTTTATCCATTAATGGATATGACTTTCTCCATTAATATCTGAGTCAAAGCAATTCTGGAATTCCCAGCTCCATAGTGTGGAGCTTGGCATCATGAATCCAAACCACTTCCTTTCAGACCAAGATGTCTGTTCAGGCTTAATGCGGGTAGCTAACTCCAGATGTGGAATGCTGATTTGTACAATCTCCAGGCTAAAAGGGACCTTAAACTTCTTCCAATGACCATTTTCAACAACATTCCTCATTAAGTGCGCAACCAGCTTCTGCTTAAACATCTCCAACATCTGGAGCAGTTGC... | ACGGCTTTATCCATAACAGATACGGCTTTATCCATTAATGGATATGACTTTCTCCATTAATATCTGAGTCAAAGCAATTCTGGAATTCCCAGCTCCATAGTGTGGAGCTTGGCATCATGAATCCAAACCACTTCCTTTCAGACCAAGATGTCTGTTCAGGCTTAATGCGGGTAGCTAACTCCAGATGTGGAATGCTGATTTGTACAATCTCCAGGCTAAAAGGGACCTTAAACTTCTTCCAATGACCATTTTCAACAACATTCCTCATTAAGTGCGCAACCAGCTTCTGCTTAAACATCTCCAACATCTGGAGCAGTTGC... | benign | 260,935 |
Is the genetic change at chromosome 17, position 3640221, within gene CTNS (cystinosin, lysosomal cystine transporter) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['CTNS-related_disorder', 'Cystinosis', 'Inborn_genetic_diseases', 'Infantile_nephropathic_cystinosis', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | ATTTCTATCTTGTAGCTTTCACAAGCCACTAGTTGTATGTAATTATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCAACTGCCTCGGC... | ATTTCTATCTTGTAGCTTTCACAAGCCACTAGTTGTATGTAATTATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCAACTGCCTCGGC... | pathogenic | 261,031 |
Variant at chromosome 17, position 3640242, gene CTNS (cystinosin, lysosomal cystine transporter): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | CAAGCCACTAGTTGTATGTAATTATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCAACTGCCTCGGCCTCCCAAAGTGCTGGAATTAC... | CAAGCCACTAGTTGTATGTAATTATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCAACTGCCTCGGCCTCCCAAAGTGCTGGAATTAC... | pathogenic | 261,032 |
Determine whether the variant at chromosome 17, position 3640264, in gene CTNS (cystinosin, lysosomal cystine transporter) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cystinosis', 'Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | TATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCAACTGCCTCGGCCTCCCAAAGTGCTGGAATTACACACACGAGCCACTGCGCTCAG... | TATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGATCCAACTGCCTCGGCCTCCCAAAGTGCTGGAATTACACACACGAGCCACTGCGCTCAG... | pathogenic | 261,033 |
Is the genetic mutation found on chromosome 17 at position 3648903, within the gene CTNS (cystinosin, lysosomal cystine transporter), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cystinosis', 'Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | ACAACTATTCACCCTTCCTCCTCCAGTACCCCGCAGATAGTCAGCCCCAGGAAGGGGACCAGTGCCAGGGTGAGCTGGGTTGGGAAGGGACCCCAAAGGGCTCCTTAGAAACTCATTAGCTGGGCCCATGTGTCTCTCTGAGAGTGCAGGAAAGGGGCTGGCCCAGTTCTTCAGGACCATTTTGACTTCATGAACAGAGGAGACCCCTGTGCTTTCATCTGAAGAGGTGGTTCACGGCTGCCTTTTACGCTCCCAGGTCACGCTGGAATTCCCCTGTAATGATTTTTGGGCTCCATGGTTCTCTAACAATCTCTGGTTAA... | ACAACTATTCACCCTTCCTCCTCCAGTACCCCGCAGATAGTCAGCCCCAGGAAGGGGACCAGTGCCAGGGTGAGCTGGGTTGGGAAGGGACCCCAAAGGGCTCCTTAGAAACTCATTAGCTGGGCCCATGTGTCTCTCTGAGAGTGCAGGAAAGGGGCTGGCCCAGTTCTTCAGGACCATTTTGACTTCATGAACAGAGGAGACCCCTGTGCTTTCATCTGAAGAGGTGGTTCACGGCTGCCTTTTACGCTCCCAGGTCACGCTGGAATTCCCCTGTAATGATTTTTGGGCTCCATGGTTCTCTAACAATCTCTGGTTAA... | pathogenic | 261,047 |
Evaluate the clinical significance of the mutation at chromosome 17, position 3648911 in gene CTNS (cystinosin, lysosomal cystine transporter): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['CTNS-related_disorder', 'Cystinosis', 'Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | TCACCCTTCCTCCTCCAGTACCCCGCAGATAGTCAGCCCCAGGAAGGGGACCAGTGCCAGGGTGAGCTGGGTTGGGAAGGGACCCCAAAGGGCTCCTTAGAAACTCATTAGCTGGGCCCATGTGTCTCTCTGAGAGTGCAGGAAAGGGGCTGGCCCAGTTCTTCAGGACCATTTTGACTTCATGAACAGAGGAGACCCCTGTGCTTTCATCTGAAGAGGTGGTTCACGGCTGCCTTTTACGCTCCCAGGTCACGCTGGAATTCCCCTGTAATGATTTTTGGGCTCCATGGTTCTCTAACAATCTCTGGTTAACTCAGCCG... | TCACCCTTCCTCCTCCAGTACCCCGCAGATAGTCAGCCCCAGGAAGGGGACCAGTGCCAGGGTGAGCTGGGTTGGGAAGGGACCCCAAAGGGCTCCTTAGAAACTCATTAGCTGGGCCCATGTGTCTCTCTGAGAGTGCAGGAAAGGGGCTGGCCCAGTTCTTCAGGACCATTTTGACTTCATGAACAGAGGAGACCCCTGTGCTTTCATCTGAAGAGGTGGTTCACGGCTGCCTTTTACGCTCCCAGGTCACGCTGGAATTCCCCTGTAATGATTTTTGGGCTCCATGGTTCTCTAACAATCTCTGGTTAACTCAGCCG... | pathogenic | 261,048 |
A genetic variant at chromosome 17, position 3648929, affecting gene CTNS (cystinosin, lysosomal cystine transporter)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | TACCCCGCAGATAGTCAGCCCCAGGAAGGGGACCAGTGCCAGGGTGAGCTGGGTTGGGAAGGGACCCCAAAGGGCTCCTTAGAAACTCATTAGCTGGGCCCATGTGTCTCTCTGAGAGTGCAGGAAAGGGGCTGGCCCAGTTCTTCAGGACCATTTTGACTTCATGAACAGAGGAGACCCCTGTGCTTTCATCTGAAGAGGTGGTTCACGGCTGCCTTTTACGCTCCCAGGTCACGCTGGAATTCCCCTGTAATGATTTTTGGGCTCCATGGTTCTCTAACAATCTCTGGTTAACTCAGCCGCAGACTCTCAGAGCCTGT... | TACCCCGCAGATAGTCAGCCCCAGGAAGGGGACCAGTGCCAGGGTGAGCTGGGTTGGGAAGGGACCCCAAAGGGCTCCTTAGAAACTCATTAGCTGGGCCCATGTGTCTCTCTGAGAGTGCAGGAAAGGGGCTGGCCCAGTTCTTCAGGACCATTTTGACTTCATGAACAGAGGAGACCCCTGTGCTTTCATCTGAAGAGGTGGTTCACGGCTGCCTTTTACGCTCCCAGGTCACGCTGGAATTCCCCTGTAATGATTTTTGGGCTCCATGGTTCTCTAACAATCTCTGGTTAACTCAGCCGCAGACTCTCAGAGCCTGT... | pathogenic | 261,049 |
Clinically, how would you classify the variant at chromosome 17, position 3648936, gene CTNS (cystinosin, lysosomal cystine transporter): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | CAGATAGTCAGCCCCAGGAAGGGGACCAGTGCCAGGGTGAGCTGGGTTGGGAAGGGACCCCAAAGGGCTCCTTAGAAACTCATTAGCTGGGCCCATGTGTCTCTCTGAGAGTGCAGGAAAGGGGCTGGCCCAGTTCTTCAGGACCATTTTGACTTCATGAACAGAGGAGACCCCTGTGCTTTCATCTGAAGAGGTGGTTCACGGCTGCCTTTTACGCTCCCAGGTCACGCTGGAATTCCCCTGTAATGATTTTTGGGCTCCATGGTTCTCTAACAATCTCTGGTTAACTCAGCCGCAGACTCTCAGAGCCTGTCATCGCA... | CAGATAGTCAGCCCCAGGAAGGGGACCAGTGCCAGGGTGAGCTGGGTTGGGAAGGGACCCCAAAGGGCTCCTTAGAAACTCATTAGCTGGGCCCATGTGTCTCTCTGAGAGTGCAGGAAAGGGGCTGGCCCAGTTCTTCAGGACCATTTTGACTTCATGAACAGAGGAGACCCCTGTGCTTTCATCTGAAGAGGTGGTTCACGGCTGCCTTTTACGCTCCCAGGTCACGCTGGAATTCCCCTGTAATGATTTTTGGGCTCCATGGTTCTCTAACAATCTCTGGTTAACTCAGCCGCAGACTCTCAGAGCCTGTCATCGCA... | pathogenic | 261,052 |
Regarding the variant found on chromosome 17 at position 3654996 in gene CTNS: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | CAGTGCTTCAAGGGTCCTCATTAAGAAGCCACTGAAGGATGTGGTAGAGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAGGATCGCTTGAGCCCAGGAGTTGGAGTGATCAGTGAGCTATAGTTGCACCACTGCACTACAGCCTGAGCTACAGAGCAAGACCTGCCTCTCGGAAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGAAGATCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACGAAAAATACAAAAAATTAG... | CAGTGCTTCAAGGGTCCTCATTAAGAAGCCACTGAAGGATGTGGTAGAGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAGGATCGCTTGAGCCCAGGAGTTGGAGTGATCAGTGAGCTATAGTTGCACCACTGCACTACAGCCTGAGCTACAGAGCAAGACCTGCCTCTCGGAAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGAAGATCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACGAAAAATACAAAAAATTAG... | pathogenic | 261,056 |
Variant in gene CTNS, located at chromosome 17 position 3655020: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Nephropathic_cystinosis'] | GAAGCCACTGAAGGATGTGGTAGAGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAGGATCGCTTGAGCCCAGGAGTTGGAGTGATCAGTGAGCTATAGTTGCACCACTGCACTACAGCCTGAGCTACAGAGCAAGACCTGCCTCTCGGAAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGAAGATCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACGAAAAATACAAAAAATTAGCTGGGTATGGTTGTGGGCACCTGT... | GAAGCCACTGAAGGATGTGGTAGAGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGGAGGATCGCTTGAGCCCAGGAGTTGGAGTGATCAGTGAGCTATAGTTGCACCACTGCACTACAGCCTGAGCTACAGAGCAAGACCTGCCTCTCGGAAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGAAGATCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACGAAAAATACAAAAAATTAGCTGGGTATGGTTGTGGGCACCTGT... | pathogenic | 261,057 |
A genetic alteration at chromosome 17, position 3655063, in gene CTNS—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | CTCAGGAGGCTGAGGCGGGAGGATCGCTTGAGCCCAGGAGTTGGAGTGATCAGTGAGCTATAGTTGCACCACTGCACTACAGCCTGAGCTACAGAGCAAGACCTGCCTCTCGGAAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGAAGATCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACGAAAAATACAAAAAATTAGCTGGGTATGGTTGTGGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAA... | CTCAGGAGGCTGAGGCGGGAGGATCGCTTGAGCCCAGGAGTTGGAGTGATCAGTGAGCTATAGTTGCACCACTGCACTACAGCCTGAGCTACAGAGCAAGACCTGCCTCTCGGAAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGAAGATCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACGAAAAATACAAAAAATTAGCTGGGTATGGTTGTGGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAA... | pathogenic | 261,059 |
A genetic variant at chromosome 17, position 3655083, affecting gene CTNS—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | GGATCGCTTGAGCCCAGGAGTTGGAGTGATCAGTGAGCTATAGTTGCACCACTGCACTACAGCCTGAGCTACAGAGCAAGACCTGCCTCTCGGAAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGAAGATCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACGAAAAATACAAAAAATTAGCTGGGTATGGTTGTGGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGGGGCGGAGATTGCA... | GGATCGCTTGAGCCCAGGAGTTGGAGTGATCAGTGAGCTATAGTTGCACCACTGCACTACAGCCTGAGCTACAGAGCAAGACCTGCCTCTCGGAAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGAAGATCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACGAAAAATACAAAAAATTAGCTGGGTATGGTTGTGGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGGGGCGGAGATTGCA... | pathogenic | 261,061 |
Does the variant impacting CTNS on chromosome 17, position 3655094, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cystinosis', 'Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | GCCCAGGAGTTGGAGTGATCAGTGAGCTATAGTTGCACCACTGCACTACAGCCTGAGCTACAGAGCAAGACCTGCCTCTCGGAAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGAAGATCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACGAAAAATACAAAAAATTAGCTGGGTATGGTTGTGGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGGGGCGGAGATTGCAGTGAGCCAAGA... | GCCCAGGAGTTGGAGTGATCAGTGAGCTATAGTTGCACCACTGCACTACAGCCTGAGCTACAGAGCAAGACCTGCCTCTCGGAAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGAAGATCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACGAAAAATACAAAAAATTAGCTGGGTATGGTTGTGGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGGGGCGGAGATTGCAGTGAGCCAAGA... | pathogenic | 261,062 |
Gene CTNS variant at chromosome 17, position 3656542—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Nephropathic_cystinosis'] | TGAAAGTCCATCTCTACTAAAAATTCAAAAATTAGCTGGGCATGGTGGCGCACACCTGTAATCCCAGGTACTCGGGACTCAGGAGCCTAAGGCAGGAGAACCGCTTGAACTCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACTCCACTACACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATG... | TGAAAGTCCATCTCTACTAAAAATTCAAAAATTAGCTGGGCATGGTGGCGCACACCTGTAATCCCAGGTACTCGGGACTCAGGAGCCTAAGGCAGGAGAACCGCTTGAACTCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACTCCACTACACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATG... | pathogenic | 261,086 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 3656572, gene CTNS. What disease(s) is it linked to if pathogenic? | pathogenic; ['CTNS-related_disorder', 'Cystinosis', 'Inborn_genetic_diseases', 'Infantile_nephropathic_cystinosis', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | ATTAGCTGGGCATGGTGGCGCACACCTGTAATCCCAGGTACTCGGGACTCAGGAGCCTAAGGCAGGAGAACCGCTTGAACTCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACTCCACTACACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGG... | ATTAGCTGGGCATGGTGGCGCACACCTGTAATCCCAGGTACTCGGGACTCAGGAGCCTAAGGCAGGAGAACCGCTTGAACTCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACTCCACTACACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGG... | pathogenic | 261,089 |
Does the variant impacting CTNS on chromosome 17, position 3656585, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cystinosis', 'Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | GGTGGCGCACACCTGTAATCCCAGGTACTCGGGACTCAGGAGCCTAAGGCAGGAGAACCGCTTGAACTCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACTCCACTACACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTC... | GGTGGCGCACACCTGTAATCCCAGGTACTCGGGACTCAGGAGCCTAAGGCAGGAGAACCGCTTGAACTCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACTCCACTACACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTC... | pathogenic | 261,090 |
Variant at chromosome position 3656705, chromosome 17, gene CTNS: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Nephropathic_cystinosis'] | GGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATT... | GGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATT... | pathogenic | 261,096 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 3656724, gene CTNS: what disease(s) if pathogenic? | pathogenic; ['Cystinosis', 'Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | GTCTCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAAC... | GTCTCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAAC... | pathogenic | 261,097 |
Does the variant impacting CTNS on chromosome 17, position 3656759, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cystinosis', 'Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | CAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCT... | CAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCT... | pathogenic | 261,100 |
Is the genetic mutation found on chromosome 17 at position 3656759, within the gene CTNS, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | CAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCT... | CAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGACAAACTCCTCT... | pathogenic | 261,101 |
For chromosome 17, position 3658015, gene CTNS: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Cystinosis', 'Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | GGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCAC... | GGACAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCAC... | pathogenic | 261,110 |
Variant on chromosome 17, at position 3658018, affecting CTNS (cystinosin, lysosomal cystine transporter): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['CTNS-related_disorder', 'Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | CAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCC... | CAGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCC... | pathogenic | 261,111 |
Does the genetic variant at chromosome 17, position 3658019, impacting gene CTNS (cystinosin, lysosomal cystine transporter), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | AGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCT... | AGTACCCTGCTTGAGAAGGGCCGAGTCCTCCTTCCCCGTGGCCTGGGAGCCCTGTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCT... | pathogenic | 261,112 |
Is the genetic variant on chromosome 17, position 3658072, gene CTNS (cystinosin, lysosomal cystine transporter), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | GTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCC... | GTCCCTCCCATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCC... | pathogenic | 261,115 |
Does the genetic variant at chromosome 17, position 3658081, impacting gene CTNS (cystinosin, lysosomal cystine transporter), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cystinosis', 'Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | ATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCC... | ATTCCCCACAGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCC... | pathogenic | 261,116 |
Clinical classification of chromosome 17, position 3658090, gene CTNS (cystinosin, lysosomal cystine transporter): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | AGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTC... | AGTGGTGCCAGTCCTCACCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTC... | pathogenic | 261,117 |
For chromosome 17, position 3658129, gene CTNS (cystinosin, lysosomal cystine transporter): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Nephropathic_cystinosis', 'Nephrotic_syndrome'] | CCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCAC... | CCACCCCCGCCAGCCCTCACCCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCAC... | pathogenic | 261,119 |
Benign or pathogenic: chromosome 17, position 3658151, gene CTNS (cystinosin, lysosomal cystine transporter) variant? Disease(s) if pathogenic? | pathogenic; ['Cystinosis', 'Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | CCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTG... | CCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTG... | pathogenic | 261,121 |
Evaluate the clinical significance of the mutation at chromosome 17, position 3658163 in gene CTNS (cystinosin, lysosomal cystine transporter): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | CTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCC... | CTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCGCCAGTCCTTACCCACTGCCCTGCCCCTCCACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCACCCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCC... | pathogenic | 261,124 |
Variant at chromosome position 3659873, chromosome 17, gene CTNS (cystinosin, lysosomal cystine transporter): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | TGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCT... | TGTGGTCCACATGTTCCCCTGCCACAACCCCAGTGCAGCCCCCACCTTGCAGGGGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCT... | pathogenic | 261,128 |
A mutation at chromosome position 3659926 on chromosome 17 in gene CTNS (cystinosin, lysosomal cystine transporter): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cystinosis', 'Inborn_genetic_diseases', 'Juvenile_nephropathic_cystinosis', 'Nephropathic_cystinosis', 'Ocular_cystinosis'] | GGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCAC... | GGCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCAC... | pathogenic | 261,131 |
Is the genetic variant on chromosome 17, position 4898824, gene CHRNE (cholinergic receptor nicotinic epsilon subunit), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Congenital_myasthenic_syndrome_4A'] | CTCAGAGGCTCAAGTTCCTGTGTGAGCGGAATGACAAGGTGGGAGGCTCCTTCCCTCTGAAAGCCCTGCTGTCCCGGCTGCCATGACCCTAGGCCCCTGGGCAGAGTTCTGGGGAGAGGATGGTGGTGGTGGCTTCCTGAAAGCGGGCCCCTCTGGGAGCTCAGAGGGCAGTCAGCCACTACCACTGCCCTGCGCTCCCTTCAGATTCCGAGGACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCT... | CTCAGAGGCTCAAGTTCCTGTGTGAGCGGAATGACAAGGTGGGAGGCTCCTTCCCTCTGAAAGCCCTGCTGTCCCGGCTGCCATGACCCTAGGCCCCTGGGCAGAGTTCTGGGGAGAGGATGGTGGTGGTGGCTTCCTGAAAGCGGGCCCCTCTGGGAGCTCAGAGGGCAGTCAGCCACTACCACTGCCCTGCGCTCCCTTCAGATTCCGAGGACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCT... | pathogenic | 261,291 |
Variant chromosome 17, position 4898827, gene CHRNE (cholinergic receptor nicotinic epsilon subunit): benign or pathogenic? Disease(s)? | pathogenic; ['Congenital_myasthenic_syndrome_4A', 'Congenital_myasthenic_syndrome_4B', 'Congenital_myasthenic_syndrome_4C'] | AGAGGCTCAAGTTCCTGTGTGAGCGGAATGACAAGGTGGGAGGCTCCTTCCCTCTGAAAGCCCTGCTGTCCCGGCTGCCATGACCCTAGGCCCCTGGGCAGAGTTCTGGGGAGAGGATGGTGGTGGTGGCTTCCTGAAAGCGGGCCCCTCTGGGAGCTCAGAGGGCAGTCAGCCACTACCACTGCCCTGCGCTCCCTTCAGATTCCGAGGACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTG... | AGAGGCTCAAGTTCCTGTGTGAGCGGAATGACAAGGTGGGAGGCTCCTTCCCTCTGAAAGCCCTGCTGTCCCGGCTGCCATGACCCTAGGCCCCTGGGCAGAGTTCTGGGGAGAGGATGGTGGTGGTGGCTTCCTGAAAGCGGGCCCCTCTGGGAGCTCAGAGGGCAGTCAGCCACTACCACTGCCCTGCGCTCCCTTCAGATTCCGAGGACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTG... | pathogenic | 261,292 |
Gene CHRNE (cholinergic receptor nicotinic epsilon subunit) variant at chromosome position 4898846 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Congenital_myasthenic_syndrome_4A'] | TGAGCGGAATGACAAGGTGGGAGGCTCCTTCCCTCTGAAAGCCCTGCTGTCCCGGCTGCCATGACCCTAGGCCCCTGGGCAGAGTTCTGGGGAGAGGATGGTGGTGGTGGCTTCCTGAAAGCGGGCCCCTCTGGGAGCTCAGAGGGCAGTCAGCCACTACCACTGCCCTGCGCTCCCTTCAGATTCCGAGGACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGC... | TGAGCGGAATGACAAGGTGGGAGGCTCCTTCCCTCTGAAAGCCCTGCTGTCCCGGCTGCCATGACCCTAGGCCCCTGGGCAGAGTTCTGGGGAGAGGATGGTGGTGGTGGCTTCCTGAAAGCGGGCCCCTCTGGGAGCTCAGAGGGCAGTCAGCCACTACCACTGCCCTGCGCTCCCTTCAGATTCCGAGGACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGC... | pathogenic | 261,294 |
Classify the chromosome 17 variant at position 4898848 affecting gene CHRNE (cholinergic receptor nicotinic epsilon subunit) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Congenital_myasthenic_syndrome_4A', 'Congenital_myasthenic_syndrome_4B'] | AGCGGAATGACAAGGTGGGAGGCTCCTTCCCTCTGAAAGCCCTGCTGTCCCGGCTGCCATGACCCTAGGCCCCTGGGCAGAGTTCTGGGGAGAGGATGGTGGTGGTGGCTTCCTGAAAGCGGGCCCCTCTGGGAGCTCAGAGGGCAGTCAGCCACTACCACTGCCCTGCGCTCCCTTCAGATTCCGAGGACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCA... | AGCGGAATGACAAGGTGGGAGGCTCCTTCCCTCTGAAAGCCCTGCTGTCCCGGCTGCCATGACCCTAGGCCCCTGGGCAGAGTTCTGGGGAGAGGATGGTGGTGGTGGCTTCCTGAAAGCGGGCCCCTCTGGGAGCTCAGAGGGCAGTCAGCCACTACCACTGCCCTGCGCTCCCTTCAGATTCCGAGGACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCA... | pathogenic | 261,295 |
Determine whether the variant at chromosome 17, position 4898864, in gene CHRNE (cholinergic receptor nicotinic epsilon subunit) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_4A', 'Congenital_myasthenic_syndrome_4B', 'Congenital_myasthenic_syndrome_4C'] | GGGAGGCTCCTTCCCTCTGAAAGCCCTGCTGTCCCGGCTGCCATGACCCTAGGCCCCTGGGCAGAGTTCTGGGGAGAGGATGGTGGTGGTGGCTTCCTGAAAGCGGGCCCCTCTGGGAGCTCAGAGGGCAGTCAGCCACTACCACTGCCCTGCGCTCCCTTCAGATTCCGAGGACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCT... | GGGAGGCTCCTTCCCTCTGAAAGCCCTGCTGTCCCGGCTGCCATGACCCTAGGCCCCTGGGCAGAGTTCTGGGGAGAGGATGGTGGTGGTGGCTTCCTGAAAGCGGGCCCCTCTGGGAGCTCAGAGGGCAGTCAGCCACTACCACTGCCCTGCGCTCCCTTCAGATTCCGAGGACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCT... | pathogenic | 261,296 |
Evaluate the clinical significance of the mutation at chromosome 17, position 4898968 in gene CHRNE (cholinergic receptor nicotinic epsilon subunit): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GGGCCCCTCTGGGAGCTCAGAGGGCAGTCAGCCACTACCACTGCCCTGCGCTCCCTTCAGATTCCGAGGACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGC... | GGGCCCCTCTGGGAGCTCAGAGGGCAGTCAGCCACTACCACTGCCCTGCGCTCCCTTCAGATTCCGAGGACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGC... | benign | 261,298 |
Clinically, how would you classify the variant at chromosome 17, position 4898985, gene CHRNE (cholinergic receptor nicotinic epsilon subunit): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Congenital_myasthenic_syndrome_4A'] | CAGAGGGCAGTCAGCCACTACCACTGCCCTGCGCTCCCTTCAGATTCCGAGGACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGAC... | CAGAGGGCAGTCAGCCACTACCACTGCCCTGCGCTCCCTTCAGATTCCGAGGACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGAC... | pathogenic | 261,299 |
The genetic variant at chromosome 17, position 4899012, affecting gene CHRNE (cholinergic receptor nicotinic epsilon subunit): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_4A', 'Congenital_myasthenic_syndrome_4B', 'Congenital_myasthenic_syndrome_4C'] | CCTGCGCTCCCTTCAGATTCCGAGGACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTG... | CCTGCGCTCCCTTCAGATTCCGAGGACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTG... | pathogenic | 261,301 |
Evaluate this variant at chromosome 17, position 4899059, gene CHRNE (cholinergic receptor nicotinic epsilon subunit): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Abnormality_of_the_musculature', 'Congenital_myasthenic_syndrome_4A', 'Congenital_myasthenic_syndrome_4C'] | GGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTC... | GGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTC... | pathogenic | 261,306 |
Clinical significance of chromosome 17, position 4899060, gene CHRNE (cholinergic receptor nicotinic epsilon subunit): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Congenital_myasthenic_syndrome_4A'] | GCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCC... | GCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCC... | pathogenic | 261,307 |
Gene mutation in CHRNE (cholinergic receptor nicotinic epsilon subunit) at chromosome 17, position 4899060—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_4A'] | GCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCC... | GCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCC... | pathogenic | 261,308 |
Clinically, how would you classify the variant at chromosome 17, position 4899072, gene CHRNE (cholinergic receptor nicotinic epsilon subunit): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Congenital_myasthenic_syndrome_4A', 'Congenital_myasthenic_syndrome_4B', 'Congenital_myasthenic_syndrome_4C'] | CCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAG... | CCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAG... | pathogenic | 261,310 |
Is the chromosome 17, position 4899099 variant in CHRNE (cholinergic receptor nicotinic epsilon subunit) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Congenital_myasthenic_syndrome_4A'] | TTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCT... | TTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCT... | pathogenic | 261,313 |
The mutation impacting CHRNE on chromosome 17 at position 4899175: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTC... | TTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTC... | benign | 261,319 |
Evaluate if the mutation on chromosome 17 at position 4899178 in CHRNE is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Congenital_myasthenic_syndrome_4A'] | CCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTG... | CCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTG... | pathogenic | 261,320 |
Determine if the mutation at chromosome 17, position 4899213 in gene CHRNE is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Congenital_myasthenic_syndrome_4A'] | ACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCT... | ACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCT... | pathogenic | 261,323 |
Determine if the mutation at chromosome 17, position 4899229 in gene CHRNE is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Congenital_myasthenic_syndrome_4A', 'Congenital_myasthenic_syndrome_4C'] | ACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCT... | ACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCT... | pathogenic | 261,325 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 4899252, gene CHRNE: what disease(s) if pathogenic? | pathogenic; ['Congenital_myasthenic_syndrome_4A'] | GTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGAC... | GTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGAC... | pathogenic | 261,326 |
Variant at chromosome position 4899255, chromosome 17, gene CHRNE: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Congenital_myasthenic_syndrome_4A', 'Congenital_myasthenic_syndrome_4B', 'Congenital_myasthenic_syndrome_4C'] | TTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACA... | TTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACA... | pathogenic | 261,327 |
Considering the variant on chromosome 17, location 4899258, involving gene CHRNE, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Congenital_myasthenic_syndrome_4A'] | TTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCT... | TTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCT... | pathogenic | 261,328 |
Variant in gene CHRNE (cholinergic receptor nicotinic epsilon subunit), located at chromosome 17 position 4899288: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_4A'] | CAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGC... | CAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGC... | pathogenic | 261,329 |
Is the chromosome 17, position 4899305 variant in CHRNE clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Congenital_myasthenic_syndrome_4A'] | TCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTC... | TCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTC... | pathogenic | 261,332 |
Benign or pathogenic: chromosome 17, position 4899308, gene CHRNE variant? Disease(s) if pathogenic? | pathogenic; ['Congenital_myasthenic_syndrome_4A'] | GAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCAT... | GAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCAT... | pathogenic | 261,333 |
Benign or pathogenic: chromosome 17, position 4899313, gene CHRNE variant? Disease(s) if pathogenic? | pathogenic; ['Congenital_myasthenic_syndrome_4A', 'Congenital_myasthenic_syndrome_4B', 'Congenital_myasthenic_syndrome_4C'] | GTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAG... | GTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAG... | pathogenic | 261,334 |
Mutation at chromosome 17, position 4899323, within CHRNE: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_4A'] | CATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGC... | CATGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGC... | pathogenic | 261,336 |
Is the genetic change at chromosome 17, position 4899325, within gene CHRNE benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['CHRNE-related_disorder', 'Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_4A'] | TGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTT... | TGAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTT... | pathogenic | 261,337 |
Is the genetic change at chromosome 17, position 4899326, within gene CHRNE benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Abnormality_of_the_musculature', 'CHRNE-related_disorder', 'Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_4A'] | GAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTG... | GAACTGGTGACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTG... | pathogenic | 261,338 |
Mutation found at chromosome 17 position 4899335, gene CHRNE: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Congenital_myasthenic_syndrome_4A', 'Congenital_myasthenic_syndrome_4B', 'Congenital_myasthenic_syndrome_4C'] | ACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAA... | ACGGGGCCCTGGGCTGGGGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAA... | pathogenic | 261,339 |
For chromosome 17, position 4899352, gene CHRNE: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Congenital_myasthenic_syndrome_4A', 'Congenital_myasthenic_syndrome_4B'] | GGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCT... | GGCTGTCCCACACTGGACCCAGCTCTCCCCCTGCAGCCAGGCTTCCCGGGCCGCCCCTCTTTCCCCTCCCTGGGCTTTTGCTTTTACTGGTTTGATTTCACTGGAGCCTGCTGGGAACGTGACCTCTGACCCCTGATGCTTTCGTGATCACGTGACCATCCTCTTCCCCAACATGTCCTCTTCCCAAAACTGTGCCTGTCCCCAGCTTCTGGGGAGGGACACAGCTTCCCCTTCCCAGGAATTGAGTGGGCCTAGCCCCTCCCCCCTTTTCTCCATTTGAGAGGAGAGTGCTTGGGGCTTGAACCCCTTACCCCACTGCT... | pathogenic | 261,341 |
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