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 |
|---|---|---|---|---|---|
Is the variant located on chromosome 5 at position 119475863, gene HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Bifunctional_peroxisomal_enzyme_deficiency', 'Perrault_syndrome'] | GCTAGTAATTAGAATTTCATTTTCCACACACACACACACACATTTTGAAAGTCTAGAATAATTAATTGTTGTTTGCTTGTTTTTGCATTACAGTGAATGATTTGGGAGGGGACTTCAAAGGAGTTGGTAAAGGCTCCTTAGCTGCTGATAAGGTTGTTGAAGAAATAAGAAGGAGAGGTGGAAAAGCAGTGGCCAACTATGGTATGGTATTTGAGAGAACTATACTATTTATTTTCCTTCAACTAATGCTATTTGTCACATTAATAATCTTTGAGCAAATATCTCAGTATTCCAGTATAATTATGATTTTCTAAGTCTGC... | GCTAGTAATTAGAATTTCATTTTCCACACACACACACACACATTTTGAAAGTCTAGAATAATTAATTGTTGTTTGCTTGTTTTTGCATTACAGTGAATGATTTGGGAGGGGACTTCAAAGGAGTTGGTAAAGGCTCCTTAGCTGCTGATAAGGTTGTTGAAGAAATAAGAAGGAGAGGTGGAAAAGCAGTGGCCAACTATGGTATGGTATTTGAGAGAACTATACTATTTATTTTCCTTCAACTAATGCTATTTGTCACATTAATAATCTTTGAGCAAATATCTCAGTATTCCAGTATAATTATGATTTTCTAAGTCTGC... | pathogenic | 98,983 |
Clinically, how would you classify the variant at chromosome 5, position 119479003, gene HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Bifunctional_peroxisomal_enzyme_deficiency', 'Perrault_syndrome', 'Perrault_syndrome_1'] | GTGAAAACAGGCCTCTCACTAACTCATTTGCAAATGGTAACAATAGGGATCTAGTGAGTATTTTGTAAATATTTCTTAATGAGCTATGTGATTTATGATTATGCCTTAACTGATGTTAGTGTTGGGTGCCAGTTATATTTATAAAAATCTTGGATTTTATATTAGCAAAATTTTTATATGAAGTAGGCATAAAATAAGGGCGTAGCATTATATTTAGATGTGTATAGGCATTACATTAATTTTACAAATTATGAGGAGAGCTGTTGTAGTTCTAAGTGTGAAGTATTGATTAGTAGCATAACTGGAATAAAGGCAAAATA... | GTGAAAACAGGCCTCTCACTAACTCATTTGCAAATGGTAACAATAGGGATCTAGTGAGTATTTTGTAAATATTTCTTAATGAGCTATGTGATTTATGATTATGCCTTAACTGATGTTAGTGTTGGGTGCCAGTTATATTTATAAAAATCTTGGATTTTATATTAGCAAAATTTTTATATGAAGTAGGCATAAAATAAGGGCGTAGCATTATATTTAGATGTGTATAGGCATTACATTAATTTTACAAATTATGAGGAGAGCTGTTGTAGTTCTAAGTGTGAAGTATTGATTAGTAGCATAACTGGAATAAAGGCAAAATA... | pathogenic | 98,993 |
Variant chromosome 5, position 119489265, gene HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4): benign or pathogenic? Disease(s)? | pathogenic; ['Bifunctional_peroxisomal_enzyme_deficiency', 'Perrault_syndrome', 'Perrault_syndrome_1'] | TGTAGCACTAGGGACTCTTTTCTATTTTTTTTTTTTTTTTTTCTGGTTGGAGGATACCTTCTTTATCTCAGTAATGCTTTAAAAGAATCTCATTTCTGGAAGCAGAAGTATTCCTCAGAGTACTTGGCTCACTGTAATGCTAGATATCCTGACATCTAGTATTGTGGAAGAAACACTGGGTTGAGTAAGTAAACCTTTCTATTTTTGATTTCATATAACTTTATATCTTAATAGCTATGGGACTTCTCTGATCTTTTATTTACTCTCTTAAGGTTGGTTTTTTATTTATAACATTGAGTTTAATAGATGCTGGCTAACCT... | TGTAGCACTAGGGACTCTTTTCTATTTTTTTTTTTTTTTTTTCTGGTTGGAGGATACCTTCTTTATCTCAGTAATGCTTTAAAAGAATCTCATTTCTGGAAGCAGAAGTATTCCTCAGAGTACTTGGCTCACTGTAATGCTAGATATCCTGACATCTAGTATTGTGGAAGAAACACTGGGTTGAGTAAGTAAACCTTTCTATTTTTGATTTCATATAACTTTATATCTTAATAGCTATGGGACTTCTCTGATCTTTTATTTACTCTCTTAAGGTTGGTTTTTTATTTATAACATTGAGTTTAATAGATGCTGGCTAACCT... | pathogenic | 99,001 |
Mutation at chromosome 5, position 119493945, within HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Bifunctional_peroxisomal_enzyme_deficiency', 'HSD17B4-related_disorder', 'Perrault_syndrome', 'Perrault_syndrome_1'] | ACTGTTTTACGTTTGTGCTCCGATAACATGAGCAGTGCAAAGTCATGGGGGCCAGTGGACTCTTACAGAGCTGTATTATTTTCATCTCCTGTTGCCTTGAATTCTAATACTGCTAGTAGAGGAGCTGACTTTTTTCTAATTAAAACAATTGTATTAGTGATTTCACATTAGATGGTATAATGTTTTCCCCCTCTTTTTGGTAGGTTGGAGCAGGATGGATTGGAAAATGTAAGTCTCTCTCAGTTTTTGGTTTGTATAGATTATTTCCTTATCTTTAAACCTACATATCCAGTTGAGATGGGTAAGATTTTTGTCAAATG... | ACTGTTTTACGTTTGTGCTCCGATAACATGAGCAGTGCAAAGTCATGGGGGCCAGTGGACTCTTACAGAGCTGTATTATTTTCATCTCCTGTTGCCTTGAATTCTAATACTGCTAGTAGAGGAGCTGACTTTTTTCTAATTAAAACAATTGTATTAGTGATTTCACATTAGATGGTATAATGTTTTCCCCCTCTTTTTGGTAGGTTGGAGCAGGATGGATTGGAAAATGTAAGTCTCTCTCAGTTTTTGGTTTGTATAGATTATTTCCTTATCTTTAAACCTACATATCCAGTTGAGATGGGTAAGATTTTTGTCAAATG... | pathogenic | 99,013 |
Is chromosome 5, position 119496608, gene HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Bifunctional_peroxisomal_enzyme_deficiency', 'HSD17B4-related_disorder', 'Perrault_syndrome', 'Perrault_syndrome_1'] | CTCAAGCCCCAGATGTTCAACAAAACCGCCCAGATATTCTAGGGTATATTGATCTTTCTGTTAGCTGAGCTCCTACCACTTGAGCATCTAATTTTAACTGTTCTCCACTTCTTTTGTTTCATGAATGTATGGTTTCTTAATTGCCTGGTAAGTTCCTTTGAGGCAGAGACTGTATCTTGTTTGTACTTCTTGTATATATTTGGTGTTAGCATAGTGCTGAACTCATAGAAGGGACTTAATAATTGCTTATTAACTTGAATTATTTAATCTCCTGTTACATACCACAGAAATAGATAACCAAATAAAAGTCAGATTATTTT... | CTCAAGCCCCAGATGTTCAACAAAACCGCCCAGATATTCTAGGGTATATTGATCTTTCTGTTAGCTGAGCTCCTACCACTTGAGCATCTAATTTTAACTGTTCTCCACTTCTTTTGTTTCATGAATGTATGGTTTCTTAATTGCCTGGTAAGTTCCTTTGAGGCAGAGACTGTATCTTGTTTGTACTTCTTGTATATATTTGGTGTTAGCATAGTGCTGAACTCATAGAAGGGACTTAATAATTGCTTATTAACTTGAATTATTTAATCTCCTGTTACATACCACAGAAATAGATAACCAAATAAAAGTCAGATTATTTT... | pathogenic | 99,016 |
Clinical significance of chromosome 5, position 119502063, gene HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bifunctional_peroxisomal_enzyme_deficiency', 'Perrault_syndrome'] | ATGGTAGGAGAAGGTCATGGAGTAATTGTAAAGATTTCAGCATATACTTTGATGAACATGTGAAGCCATTTGTTGATCTGAGCTGAGTAGTGACATGATCTGGCTATGTTCACAGACTGGTACAAGCTTGTTGCTTTTGGAGACTAGGTTATAAGGGAGTCAAGCATGAAAGCAGAGAAACCACTTAAGAGTCTATTATAGTAATCCAAGTAAAAGTGCTGCATATGAGGGTTAGAAAAGAGGAGTCAAGGATGAAGATGTTTGTTCTGGATAATTGGGATATGTATATATATATAGAGAGAGAGATGGGTGCATATATA... | ATGGTAGGAGAAGGTCATGGAGTAATTGTAAAGATTTCAGCATATACTTTGATGAACATGTGAAGCCATTTGTTGATCTGAGCTGAGTAGTGACATGATCTGGCTATGTTCACAGACTGGTACAAGCTTGTTGCTTTTGGAGACTAGGTTATAAGGGAGTCAAGCATGAAAGCAGAGAAACCACTTAAGAGTCTATTATAGTAATCCAAGTAAAAGTGCTGCATATGAGGGTTAGAAAAGAGGAGTCAAGGATGAAGATGTTTGTTCTGGATAATTGGGATATGTATATATATATAGAGAGAGAGATGGGTGCATATATA... | pathogenic | 99,028 |
Benign or pathogenic: chromosome 5, position 119506853, gene HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4) variant? Disease(s) if pathogenic? | pathogenic; ['Bifunctional_peroxisomal_enzyme_deficiency', 'Perrault_syndrome_1'] | TAGCCATAAATTATTTCCTAAGGCTGATGTCCAGGATGGTATTTCCTATGTTTTATTCTAGAATTTTAATACTTTGAGGTCTTACATCTAAATATTTAATCCATCTTGAGTTAATTTTTGTATATGATGAAAGGTGGGAGTCTAGTTTCATTTTTCTGCATATGGCTAGCCAGTTATCTCAGCACCGTTTATTGAATAGGGAGTCCTTTCCCCATTCCCTATATTTGTCAACTTTGTCAAAGATCAGATGGTTGTAGGTGTGTGGGTTTACTTCTGGGTTCTCTGTTCTTTTCCATTGGTCTTTTCTTGTACCAGTGCCA... | TAGCCATAAATTATTTCCTAAGGCTGATGTCCAGGATGGTATTTCCTATGTTTTATTCTAGAATTTTAATACTTTGAGGTCTTACATCTAAATATTTAATCCATCTTGAGTTAATTTTTGTATATGATGAAAGGTGGGAGTCTAGTTTCATTTTTCTGCATATGGCTAGCCAGTTATCTCAGCACCGTTTATTGAATAGGGAGTCCTTTCCCCATTCCCTATATTTGTCAACTTTGTCAAAGATCAGATGGTTGTAGGTGTGTGGGTTTACTTCTGGGTTCTCTGTTCTTTTCCATTGGTCTTTTCTTGTACCAGTGCCA... | pathogenic | 99,033 |
Is the variant located on chromosome 5 at position 119509182, gene HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Bifunctional_peroxisomal_enzyme_deficiency', 'Perrault_syndrome'] | AAAGGTGATAAATGTGGCTTGTATTGATAATGTAGAGGAGAATTAAGCTTGCTGGAGTATGTTTTTGGCAGGAAGGAATATTAGATAGTCCTCACTTGACAATTAGGCTGTGTTTTAGGTATTCTTTAATGTGTTAGCTATTTGGAACTTGGAACATATTTGAACACTAAATTATTCTTATAAGTGGTAGTTAGGCTCCTAGACTTGTGCTTTTATAAGTTTCTAGACTTGAACTTATGATGTGGTTTAAACACCACAGCCACATTTTATTTGCAGTGGGAAAAAAGATTGTAGTAGTTTAATAAATGTTGAAATACTAG... | AAAGGTGATAAATGTGGCTTGTATTGATAATGTAGAGGAGAATTAAGCTTGCTGGAGTATGTTTTTGGCAGGAAGGAATATTAGATAGTCCTCACTTGACAATTAGGCTGTGTTTTAGGTATTCTTTAATGTGTTAGCTATTTGGAACTTGGAACATATTTGAACACTAAATTATTCTTATAAGTGGTAGTTAGGCTCCTAGACTTGTGCTTTTATAAGTTTCTAGACTTGAACTTATGATGTGGTTTAAACACCACAGCCACATTTTATTTGCAGTGGGAAAAAAGATTGTAGTAGTTTAATAAATGTTGAAATACTAG... | pathogenic | 99,037 |
Is the genetic mutation found on chromosome 5 at position 119515022, within the gene HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Bifunctional_peroxisomal_enzyme_deficiency'] | TATGTGTATTGTGTCAGTAAAGCTGTTTGAAAAATTAGTATTGATCAATACTATATGAAAACAATGTCCTGGGCCCGCATTTAAAAAAAAGTTGTCCTCACTTATTGCTTGGATGTGAAAAAATTACCTTGACAGGTATTAAATGGGTATTATTTACGTGAAGTTGTATCTATTCACAGGTAGCAAATTATGAGTTATTAAGAACCCTAAGGCAAGTTGTGCAATGCAGAAACATGCAGTGGCATTCTCTGAATGAAAAGCTTGGAAATGTTATATTCACTCTTAAAACATCCAAGCTTTTAGTGAAGATATTATTTTAG... | TATGTGTATTGTGTCAGTAAAGCTGTTTGAAAAATTAGTATTGATCAATACTATATGAAAACAATGTCCTGGGCCCGCATTTAAAAAAAAGTTGTCCTCACTTATTGCTTGGATGTGAAAAAATTACCTTGACAGGTATTAAATGGGTATTATTTACGTGAAGTTGTATCTATTCACAGGTAGCAAATTATGAGTTATTAAGAACCCTAAGGCAAGTTGTGCAATGCAGAAACATGCAGTGGCATTCTCTGAATGAAAAGCTTGGAAATGTTATATTCACTCTTAAAACATCCAAGCTTTTAGTGAAGATATTATTTTAG... | pathogenic | 99,043 |
A genetic variant at chromosome 5, position 119525970, affecting gene HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Bifunctional_peroxisomal_enzyme_deficiency', 'Perrault_syndrome'] | TGACTAGTACCAAATCCCATGATCTAGCATGTGTTTGATAATTTCCTGTCACAATTTCAGGCCCTGAAATGTGTTTTTCTTTCATTTGTATACATCATGATATATATTTGCTAACATTTTATTATATAAAGTGCTTTTAAAAAATTATCATTTACTTCTCTTAGCATCTCATATGGGACCTTGCAAGTCACCAGTATTCAATAATTGTTTATTTGATTTCATTATATTAAGAAGACATGTAAAGGAAAGAATATTGAGTCATTGGGAAAGTAAATAATCTATAGAACCATTATATGGAGTCATGGGGAAGGAAAAGAGCT... | TGACTAGTACCAAATCCCATGATCTAGCATGTGTTTGATAATTTCCTGTCACAATTTCAGGCCCTGAAATGTGTTTTTCTTTCATTTGTATACATCATGATATATATTTGCTAACATTTTATTATATAAAGTGCTTTTAAAAAATTATCATTTACTTCTCTTAGCATCTCATATGGGACCTTGCAAGTCACCAGTATTCAATAATTGTTTATTTGATTTCATTATATTAAGAAGACATGTAAAGGAAAGAATATTGAGTCATTGGGAAAGTAAATAATCTATAGAACCATTATATGGAGTCATGGGGAAGGAAAAGAGCT... | pathogenic | 99,053 |
Benign or pathogenic: chromosome 5, position 119527166, gene HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4) variant? Disease(s) if pathogenic? | pathogenic; ['Bifunctional_peroxisomal_enzyme_deficiency', 'Perrault_syndrome', 'Perrault_syndrome_1'] | ACAATGCTTATACCAATAACCAGCCATGTTTCCTATTTTTCATTTAATGTATTCTAACAAAACACTGAGTTCTAGTTATGTTTATGCTTTCTCCACAGGCTGCTTTGTACCGCCTCAGTGGAGACTGGAATCCCTTACACATTGATCCTAACTTTGCTAGTCTAGCAGGTGAGTTGTCTTTAATATGTATCAATGAAAAATATTAGCTATTCGATATTTAATTAAATAATGTAAAGACACTACTACTTATGACTGGTAGTTTGAGTAGCATTTAAAAAAATGTTATTTTATTTATTACATTTATGCAAAGGATATGGAAA... | ACAATGCTTATACCAATAACCAGCCATGTTTCCTATTTTTCATTTAATGTATTCTAACAAAACACTGAGTTCTAGTTATGTTTATGCTTTCTCCACAGGCTGCTTTGTACCGCCTCAGTGGAGACTGGAATCCCTTACACATTGATCCTAACTTTGCTAGTCTAGCAGGTGAGTTGTCTTTAATATGTATCAATGAAAAATATTAGCTATTCGATATTTAATTAAATAATGTAAAGACACTACTACTTATGACTGGTAGTTTGAGTAGCATTTAAAAAAATGTTATTTTATTTATTACATTTATGCAAAGGATATGGAAA... | pathogenic | 99,056 |
A genetic alteration at chromosome 5, position 119527198, in gene HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Bifunctional_peroxisomal_enzyme_deficiency', 'Perrault_syndrome'] | CTATTTTTCATTTAATGTATTCTAACAAAACACTGAGTTCTAGTTATGTTTATGCTTTCTCCACAGGCTGCTTTGTACCGCCTCAGTGGAGACTGGAATCCCTTACACATTGATCCTAACTTTGCTAGTCTAGCAGGTGAGTTGTCTTTAATATGTATCAATGAAAAATATTAGCTATTCGATATTTAATTAAATAATGTAAAGACACTACTACTTATGACTGGTAGTTTGAGTAGCATTTAAAAAAATGTTATTTTATTTATTACATTTATGCAAAGGATATGGAAAGGTAGGAAATGTGTTCAGAAAATAGTGCACTT... | CTATTTTTCATTTAATGTATTCTAACAAAACACTGAGTTCTAGTTATGTTTATGCTTTCTCCACAGGCTGCTTTGTACCGCCTCAGTGGAGACTGGAATCCCTTACACATTGATCCTAACTTTGCTAGTCTAGCAGGTGAGTTGTCTTTAATATGTATCAATGAAAAATATTAGCTATTCGATATTTAATTAAATAATGTAAAGACACTACTACTTATGACTGGTAGTTTGAGTAGCATTTAAAAAAATGTTATTTTATTTATTACATTTATGCAAAGGATATGGAAAGGTAGGAAATGTGTTCAGAAAATAGTGCACTT... | pathogenic | 99,057 |
Is the genetic mutation found on chromosome 5 at position 119542238, within the gene HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AGGCCAAACCATATACCTAACAGTTTCATTTATGAAGTAGTTCAAAACAATTAGTTTTTTGTGTTCAACCAGTATGACTGTATTTCCCTCCCAAATTAACAGTATTGGGAAAGTGTCCCTGAGAGAGTTTGCTGTGATGTCCGGTGCATGGCAGTGCAGAGTTTGGAAACTGGCAATATGGACGTATGGTTAAGGGCTTTAAGAAATAAGAAAATAGATAGGAGGAAAGATTTATGTACAAAATTCTTCTGCTCAAAAATGTCCAAAATTGATATTTTTACTTCTAGTAATTAGGTGTTCTTGTTTTAGGTTGTAAATCT... | AGGCCAAACCATATACCTAACAGTTTCATTTATGAAGTAGTTCAAAACAATTAGTTTTTTGTGTTCAACCAGTATGACTGTATTTCCCTCCCAAATTAACAGTATTGGGAAAGTGTCCCTGAGAGAGTTTGCTGTGATGTCCGGTGCATGGCAGTGCAGAGTTTGGAAACTGGCAATATGGACGTATGGTTAAGGGCTTTAAGAAATAAGAAAATAGATAGGAGGAAAGATTTATGTACAAAATTCTTCTGCTCAAAAATGTCCAAAATTGATATTTTTACTTCTAGTAATTAGGTGTTCTTGTTTTAGGTTGTAAATCT... | benign | 99,076 |
Considering the variant on chromosome 5, location 122070487, involving gene LOX, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic | TTTTATTTTATCCCTCATGAAACTTCTCATATTGTATCTCTATTACAGTTATATGTGTAATTCTCTCACTTCCCCTACTCAAAATGCCTTTACTCAAATTATTTGAGAAAGAAATTCATTAAGCAGTGAGTGAGAGGCTGCAAGGTGGCAGACCTGTACCTGACAATGGGTATACAACAGTGGACAAGAGACTAAATCACAGCCATCACTGAGTAGAGCAGGAGACAGACATTAAACAAAGAAATTCATAAGTAATTAACTGAAAATAGTGTAATAAGGCTACAGCAGTATAGAGATTAGTAGTCCTATTTATGTTTGCA... | TTTTATTTTATCCCTCATGAAACTTCTCATATTGTATCTCTATTACAGTTATATGTGTAATTCTCTCACTTCCCCTACTCAAAATGCCTTTACTCAAATTATTTGAGAAAGAAATTCATTAAGCAGTGAGTGAGAGGCTGCAAGGTGGCAGACCTGTACCTGACAATGGGTATACAACAGTGGACAAGAGACTAAATCACAGCCATCACTGAGTAGAGCAGGAGACAGACATTAAACAAAGAAATTCATAAGTAATTAACTGAAAATAGTGTAATAAGGCTACAGCAGTATAGAGATTAGTAGTCCTATTTATGTTTGCA... | pathogenic | 99,081 |
A genetic variant on chromosome 5, position 122075440, affects the gene LOX. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cardiovascular_phenotype'] | AAATGGTGTCCTTCTGCTCTTATTTGCATTATTAAAAGAGGCAACTTTTTAAAGTGCTTTTAAAGAAACTTATTTTTCCTCCATTTGCTAACCGCAACCACTATTCTATTTTCAGCATAAAACAGAAGGAAGGAATGGTTTCACAGGTGAAAAAACAGAGATATCTTTTTTTACAGTTATTTACTAAGCCGGTTAAGGAATACAGAATGGGTGCATATGTTGTCAACCATTCAGACTTTTTCAGAGAGTAAATTTTTGTTCTTCATTGTGGACTGTAACAAGGACCCACACTGACCTGTGATCATGAATAGGGGCCACAT... | AAATGGTGTCCTTCTGCTCTTATTTGCATTATTAAAAGAGGCAACTTTTTAAAGTGCTTTTAAAGAAACTTATTTTTCCTCCATTTGCTAACCGCAACCACTATTCTATTTTCAGCATAAAACAGAAGGAAGGAATGGTTTCACAGGTGAAAAAACAGAGATATCTTTTTTTACAGTTATTTACTAAGCCGGTTAAGGAATACAGAATGGGTGCATATGTTGTCAACCATTCAGACTTTTTCAGAGAGTAAATTTTTGTTCTTCATTGTGGACTGTAACAAGGACCCACACTGACCTGTGATCATGAATAGGGGCCACAT... | pathogenic | 99,095 |
Determine whether the variant at chromosome 5, position 122076897, in gene LOX is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'LOX-related_disorder'] | TCCTGAAAATAAACACCCAGGCAAGTTACTAAGGCAAATGATAGAATTACCTTATGCAAAAATCCTTAAATTTAGGATAGAAAAGGCAACCACCTTGGGCTTGATACAGGTCTTTTAAAAGATGGAAGAAGGTCCTTCTGAGCTGATGGGATGTATCATCTACATCTTTCTTTGAGAATGGTTTCTGAATGCTTGTGATAAAAAACGTGTGGTCTTTATGAAATGCTATTTAATGCTAACTAACTTTAGATGATCTTGGCTGTAATGGACTTTTAAAGAAATCCTATCTGTAATGCATTGGAGTAAATTTTATTGAAGTC... | TCCTGAAAATAAACACCCAGGCAAGTTACTAAGGCAAATGATAGAATTACCTTATGCAAAAATCCTTAAATTTAGGATAGAAAAGGCAACCACCTTGGGCTTGATACAGGTCTTTTAAAAGATGGAAGAAGGTCCTTCTGAGCTGATGGGATGTATCATCTACATCTTTCTTTGAGAATGGTTTCTGAATGCTTGTGATAAAAAACGTGTGGTCTTTATGAAATGCTATTTAATGCTAACTAACTTTAGATGATCTTGGCTGTAATGGACTTTTAAAGAAATCCTATCTGTAATGCATTGGAGTAAATTTTATTGAAGTC... | pathogenic | 99,106 |
Variant chromosome 5, position 122077360, gene LOX: benign or pathogenic? Disease(s)? | pathogenic; ['Cardiovascular_phenotype'] | CAGGTAAGAAATAAGACTTGCATTTGTGATATCAAAAATCACCTGAGAAATGAAAAGCAACCCAAAAGTACCCAGGAGGCCCATTTACTTACTGATGACAACTGTGCCATTCCCAGGAATATCTTGGTCGGCTGGGTAAGAAATCTGATGTCCCTTGGTTTTTCACTCTTTGGGGAAATCTGAGCAGCACCCTGTGATCATAATCTCTGACATCTGCCCTGTATGCTGTACTGTGATTTTGAAAAAAGAAAAATTATTATATTCATGGAATATTAACTAAAGACAAAACTACAAATAAAACATCCATTATATAGTAGTGA... | CAGGTAAGAAATAAGACTTGCATTTGTGATATCAAAAATCACCTGAGAAATGAAAAGCAACCCAAAAGTACCCAGGAGGCCCATTTACTTACTGATGACAACTGTGCCATTCCCAGGAATATCTTGGTCGGCTGGGTAAGAAATCTGATGTCCCTTGGTTTTTCACTCTTTGGGGAAATCTGAGCAGCACCCTGTGATCATAATCTCTGACATCTGCCCTGTATGCTGTACTGTGATTTTGAAAAAAGAAAAATTATTATATTCATGGAATATTAACTAAAGACAAAACTACAAATAAAACATCCATTATATAGTAGTGA... | pathogenic | 99,113 |
Is the genetic variant on chromosome 5, position 122077440, gene LOX, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic | CCATTTACTTACTGATGACAACTGTGCCATTCCCAGGAATATCTTGGTCGGCTGGGTAAGAAATCTGATGTCCCTTGGTTTTTCACTCTTTGGGGAAATCTGAGCAGCACCCTGTGATCATAATCTCTGACATCTGCCCTGTATGCTGTACTGTGATTTTGAAAAAAGAAAAATTATTATATTCATGGAATATTAACTAAAGACAAAACTACAAATAAAACATCCATTATATAGTAGTGACAATCCTCCTTTCCCAACTAGACTATCAGTTCCAAGAGTCTAAGGCATTTTGTTTCTTTTTGTTCATTGCTGAATCCAAA... | CCATTTACTTACTGATGACAACTGTGCCATTCCCAGGAATATCTTGGTCGGCTGGGTAAGAAATCTGATGTCCCTTGGTTTTTCACTCTTTGGGGAAATCTGAGCAGCACCCTGTGATCATAATCTCTGACATCTGCCCTGTATGCTGTACTGTGATTTTGAAAAAAGAAAAATTATTATATTCATGGAATATTAACTAAAGACAAAACTACAAATAAAACATCCATTATATAGTAGTGACAATCCTCCTTTCCCAACTAGACTATCAGTTCCAAGAGTCTAAGGCATTTTGTTTCTTTTTGTTCATTGCTGAATCCAAA... | pathogenic | 99,118 |
Variant in LOX, chromosome 5, position 122077759—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Cardiovascular_phenotype'] | AGCTCCTAGAACCGTCTTGGAGTAGTCAGAGCTCAATGAATATTTGGTGAATAAGTGAATGAATAACACCTATGGAAATCCACAGATCTTAACAGTAAAAACATAATAAGCATTAAAAATCTAAATGTCAGAAGTAAACTTTAGAATCAATTCAAGTTTGATCATATGAATGAGTGAAACTGAAGTGGAAATAATCCCCCAATAAAAAAAATAATTCATAGATGTTTATTACAAACTTCAAACTTAACAAAACTTTTAAAAAAGTTAATGAGCTGCAAACTGAGGAAATAACTCTAAAAGAGCATACCCAGATTTAAATT... | AGCTCCTAGAACCGTCTTGGAGTAGTCAGAGCTCAATGAATATTTGGTGAATAAGTGAATGAATAACACCTATGGAAATCCACAGATCTTAACAGTAAAAACATAATAAGCATTAAAAATCTAAATGTCAGAAGTAAACTTTAGAATCAATTCAAGTTTGATCATATGAATGAGTGAAACTGAAGTGGAAATAATCCCCCAATAAAAAAAATAATTCATAGATGTTTATTACAAACTTCAAACTTAACAAAACTTTTAAAAAAGTTAATGAGCTGCAAACTGAGGAAATAACTCTAAAAGAGCATACCCAGATTTAAATT... | pathogenic | 99,135 |
Mutation at chromosome 5, position 123378440, within CEP120 (centrosomal protein 120): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AGAGTACACAGCACAGGCACAAGAGTGGGAGATGAAGTCAGAGAGACAGGCTCTGATCTATGCAGAGGCCTGCAGGACAAGGCAATGATTCTGATCTTTTTCCTATGAGCAACAAGACAATGCTGAAAGGTTTTAAAGAGGAGAGTATCAAGATTCCCAATTTCAAAAATATCATTCTGGCTACAACATGAGGAGCAGATTAGAGGGGCCCATCACTGAAACAAAGAACATTTACAGGTAGAAGGTCAAGTATGGAGAGAAGGACCACAGTGGGTTTTAAATGCCTTTAAGACATCTGAACAGAGATGCCAAAAAGCCAA... | AGAGTACACAGCACAGGCACAAGAGTGGGAGATGAAGTCAGAGAGACAGGCTCTGATCTATGCAGAGGCCTGCAGGACAAGGCAATGATTCTGATCTTTTTCCTATGAGCAACAAGACAATGCTGAAAGGTTTTAAAGAGGAGAGTATCAAGATTCCCAATTTCAAAAATATCATTCTGGCTACAACATGAGGAGCAGATTAGAGGGGCCCATCACTGAAACAAAGAACATTTACAGGTAGAAGGTCAAGTATGGAGAGAAGGACCACAGTGGGTTTTAAATGCCTTTAAGACATCTGAACAGAGATGCCAAAAAGCCAA... | benign | 99,181 |
Chromosome 5, position 123378440, gene CEP120 (centrosomal protein 120): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | AGAGTACACAGCACAGGCACAAGAGTGGGAGATGAAGTCAGAGAGACAGGCTCTGATCTATGCAGAGGCCTGCAGGACAAGGCAATGATTCTGATCTTTTTCCTATGAGCAACAAGACAATGCTGAAAGGTTTTAAAGAGGAGAGTATCAAGATTCCCAATTTCAAAAATATCATTCTGGCTACAACATGAGGAGCAGATTAGAGGGGCCCATCACTGAAACAAAGAACATTTACAGGTAGAAGGTCAAGTATGGAGAGAAGGACCACAGTGGGTTTTAAATGCCTTTAAGACATCTGAACAGAGATGCCAAAAAGCCAA... | AGAGTACACAGCACAGGCACAAGAGTGGGAGATGAAGTCAGAGAGACAGGCTCTGATCTATGCAGAGGCCTGCAGGACAAGGCAATGATTCTGATCTTTTTCCTATGAGCAACAAGACAATGCTGAAAGGTTTTAAAGAGGAGAGTATCAAGATTCCCAATTTCAAAAATATCATTCTGGCTACAACATGAGGAGCAGATTAGAGGGGCCCATCACTGAAACAAAGAACATTTACAGGTAGAAGGTCAAGTATGGAGAGAAGGACCACAGTGGGTTTTAAATGCCTTTAAGACATCTGAACAGAGATGCCAAAAAGCCAA... | benign | 99,182 |
Chromosome 5, position 123386673, gene CEP120 (centrosomal protein 120): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CAAATTACAAAATAAAAAAATAGATCCTGCATTTAAAATTCTCAAGCTAGAGAGAGGAAGGAAAATAATTAGCCATCTGAATATTACAATACCATGGTAACACAGACTCTTGACTTCTGTGAGGTGAAATCAGTATCAGAAAGCTAAAGGGCAAAGTGGGGTATAGCTGCCACAGGTCAGAGAAGATCAGAAAAAGGAGGTTATGAAAGGGTGAAGTGGTGGATCAGAAAAAAGAGGTTATGGAAGGGTGAAGTGGTGGCTGACTAATCAAAATCATTCCATGAATTGAAAAGAAAAGCAAATACCAATTCTGTGAAATG... | CAAATTACAAAATAAAAAAATAGATCCTGCATTTAAAATTCTCAAGCTAGAGAGAGGAAGGAAAATAATTAGCCATCTGAATATTACAATACCATGGTAACACAGACTCTTGACTTCTGTGAGGTGAAATCAGTATCAGAAAGCTAAAGGGCAAAGTGGGGTATAGCTGCCACAGGTCAGAGAAGATCAGAAAAAGGAGGTTATGAAAGGGTGAAGTGGTGGATCAGAAAAAAGAGGTTATGGAAGGGTGAAGTGGTGGCTGACTAATCAAAATCATTCCATGAATTGAAAAGAAAAGCAAATACCAATTCTGTGAAATG... | benign | 99,191 |
Is the variant located on chromosome 5 at position 123386675, gene CEP120 (centrosomal protein 120), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | AATTACAAAATAAAAAAATAGATCCTGCATTTAAAATTCTCAAGCTAGAGAGAGGAAGGAAAATAATTAGCCATCTGAATATTACAATACCATGGTAACACAGACTCTTGACTTCTGTGAGGTGAAATCAGTATCAGAAAGCTAAAGGGCAAAGTGGGGTATAGCTGCCACAGGTCAGAGAAGATCAGAAAAAGGAGGTTATGAAAGGGTGAAGTGGTGGATCAGAAAAAAGAGGTTATGGAAGGGTGAAGTGGTGGCTGACTAATCAAAATCATTCCATGAATTGAAAAGAAAAGCAAATACCAATTCTGTGAAATGCA... | AATTACAAAATAAAAAAATAGATCCTGCATTTAAAATTCTCAAGCTAGAGAGAGGAAGGAAAATAATTAGCCATCTGAATATTACAATACCATGGTAACACAGACTCTTGACTTCTGTGAGGTGAAATCAGTATCAGAAAGCTAAAGGGCAAAGTGGGGTATAGCTGCCACAGGTCAGAGAAGATCAGAAAAAGGAGGTTATGAAAGGGTGAAGTGGTGGATCAGAAAAAAGAGGTTATGGAAGGGTGAAGTGGTGGCTGACTAATCAAAATCATTCCATGAATTGAAAAGAAAAGCAAATACCAATTCTGTGAAATGCA... | benign | 99,193 |
For chromosome 5, position 123386675, gene CEP120 (centrosomal protein 120): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | AATTACAAAATAAAAAAATAGATCCTGCATTTAAAATTCTCAAGCTAGAGAGAGGAAGGAAAATAATTAGCCATCTGAATATTACAATACCATGGTAACACAGACTCTTGACTTCTGTGAGGTGAAATCAGTATCAGAAAGCTAAAGGGCAAAGTGGGGTATAGCTGCCACAGGTCAGAGAAGATCAGAAAAAGGAGGTTATGAAAGGGTGAAGTGGTGGATCAGAAAAAAGAGGTTATGGAAGGGTGAAGTGGTGGCTGACTAATCAAAATCATTCCATGAATTGAAAAGAAAAGCAAATACCAATTCTGTGAAATGCA... | AATTACAAAATAAAAAAATAGATCCTGCATTTAAAATTCTCAAGCTAGAGAGAGGAAGGAAAATAATTAGCCATCTGAATATTACAATACCATGGTAACACAGACTCTTGACTTCTGTGAGGTGAAATCAGTATCAGAAAGCTAAAGGGCAAAGTGGGGTATAGCTGCCACAGGTCAGAGAAGATCAGAAAAAGGAGGTTATGAAAGGGTGAAGTGGTGGATCAGAAAAAAGAGGTTATGGAAGGGTGAAGTGGTGGCTGACTAATCAAAATCATTCCATGAATTGAAAAGAAAAGCAAATACCAATTCTGTGAAATGCA... | benign | 99,194 |
Located at chromosome 5 position 123386675, the variant affecting gene CEP120 (centrosomal protein 120)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | AATTACAAAATAAAAAAATAGATCCTGCATTTAAAATTCTCAAGCTAGAGAGAGGAAGGAAAATAATTAGCCATCTGAATATTACAATACCATGGTAACACAGACTCTTGACTTCTGTGAGGTGAAATCAGTATCAGAAAGCTAAAGGGCAAAGTGGGGTATAGCTGCCACAGGTCAGAGAAGATCAGAAAAAGGAGGTTATGAAAGGGTGAAGTGGTGGATCAGAAAAAAGAGGTTATGGAAGGGTGAAGTGGTGGCTGACTAATCAAAATCATTCCATGAATTGAAAAGAAAAGCAAATACCAATTCTGTGAAATGCA... | AATTACAAAATAAAAAAATAGATCCTGCATTTAAAATTCTCAAGCTAGAGAGAGGAAGGAAAATAATTAGCCATCTGAATATTACAATACCATGGTAACACAGACTCTTGACTTCTGTGAGGTGAAATCAGTATCAGAAAGCTAAAGGGCAAAGTGGGGTATAGCTGCCACAGGTCAGAGAAGATCAGAAAAAGGAGGTTATGAAAGGGTGAAGTGGTGGATCAGAAAAAAGAGGTTATGGAAGGGTGAAGTGGTGGCTGACTAATCAAAATCATTCCATGAATTGAAAAGAAAAGCAAATACCAATTCTGTGAAATGCA... | benign | 99,195 |
Assess the variant on chromosome 5, position 123386675, impacting CEP120 (centrosomal protein 120): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | AATTACAAAATAAAAAAATAGATCCTGCATTTAAAATTCTCAAGCTAGAGAGAGGAAGGAAAATAATTAGCCATCTGAATATTACAATACCATGGTAACACAGACTCTTGACTTCTGTGAGGTGAAATCAGTATCAGAAAGCTAAAGGGCAAAGTGGGGTATAGCTGCCACAGGTCAGAGAAGATCAGAAAAAGGAGGTTATGAAAGGGTGAAGTGGTGGATCAGAAAAAAGAGGTTATGGAAGGGTGAAGTGGTGGCTGACTAATCAAAATCATTCCATGAATTGAAAAGAAAAGCAAATACCAATTCTGTGAAATGCA... | AATTACAAAATAAAAAAATAGATCCTGCATTTAAAATTCTCAAGCTAGAGAGAGGAAGGAAAATAATTAGCCATCTGAATATTACAATACCATGGTAACACAGACTCTTGACTTCTGTGAGGTGAAATCAGTATCAGAAAGCTAAAGGGCAAAGTGGGGTATAGCTGCCACAGGTCAGAGAAGATCAGAAAAAGGAGGTTATGAAAGGGTGAAGTGGTGGATCAGAAAAAAGAGGTTATGGAAGGGTGAAGTGGTGGCTGACTAATCAAAATCATTCCATGAATTGAAAAGAAAAGCAAATACCAATTCTGTGAAATGCA... | benign | 99,196 |
Is chromosome 5, position 126544987, gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Abnormality_of_the_nervous_system', 'Pyridoxine-dependent_epilepsy'] | AAGTTAGGCTTTAGTGCCGTGGCAGAAGCAAGCATGCTGAACACAATTCCCCGCATCCACAATGGAGGCTGGGCATTGCCAGCAGTAGCGGTTGGAACACAGGATTTAGGAGGAGGCAGCAGTTATGAAATGCTCAAGATAACCAGTAATGAGCAGCACAAGACCCCTTGCACCTTCAAATATAAGACCAGTAATAACACTTACAAATGTACATTTTAACTTGGATAGTTAAAAATACTAACAAGTGATTTATATCTGCTAAATCAGCAAAAAAGAACAAAGAGGAACAAATTGAAGGCATATGTTTTAATGAACATTAT... | AAGTTAGGCTTTAGTGCCGTGGCAGAAGCAAGCATGCTGAACACAATTCCCCGCATCCACAATGGAGGCTGGGCATTGCCAGCAGTAGCGGTTGGAACACAGGATTTAGGAGGAGGCAGCAGTTATGAAATGCTCAAGATAACCAGTAATGAGCAGCACAAGACCCCTTGCACCTTCAAATATAAGACCAGTAATAACACTTACAAATGTACATTTTAACTTGGATAGTTAAAAATACTAACAAGTGATTTATATCTGCTAAATCAGCAAAAAAGAACAAAGAGGAACAAATTGAAGGCATATGTTTTAATGAACATTAT... | pathogenic | 99,216 |
Assess the variant on chromosome 5, position 126549949, impacting ALDH7A1 (aldehyde dehydrogenase 7 family member A1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Pyridoxine-dependent_epilepsy'] | AATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCACGAGGTTGAGGCGGGAGAATTGCTTGAACTGGGGAGGTGGATGTTGCAGCGAGCCAATATTGCACCACTGCACTCCAGCATAGGCAACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAGAATCTCAATGTAGCCTCTGGGAAAGGAGGAGGAGAAGAAAAGTATGAGCAAAACTACTTTTTCCATTATAAGACTTTTTTAAAACTTTTATTTATTTAGAGACAGGGTCACACTCACTCTGTCACCCAGGCTGAAGTGCAGTGGTGGGATCATGG... | AATTAGCCAGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCACGAGGTTGAGGCGGGAGAATTGCTTGAACTGGGGAGGTGGATGTTGCAGCGAGCCAATATTGCACCACTGCACTCCAGCATAGGCAACAGAGCAAGATTCCGTCTCAAAAAAAAAAAAAGAATCTCAATGTAGCCTCTGGGAAAGGAGGAGGAGAAGAAAAGTATGAGCAAAACTACTTTTTCCATTATAAGACTTTTTTAAAACTTTTATTTATTTAGAGACAGGGTCACACTCACTCTGTCACCCAGGCTGAAGTGCAGTGGTGGGATCATGG... | pathogenic | 99,232 |
Evaluate this variant at chromosome 5, position 126550199, gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Pyridoxine-dependent_epilepsy'] | TTTTATTTATTTAGAGACAGGGTCACACTCACTCTGTCACCCAGGCTGAAGTGCAGTGGTGGGATCATGGCTTACTACAGCCTCAAACTCTTGGCTTAAGCGAGCCTTGCACCTCAGACTCACGAGTAGCTGGGAATACAAGTGTGTGACACCACAACTGGCTAGTTTTTTTTAATTTTTGTAGAGACAGGGTCCTACCATGTTGCCCAGGTTCATCTCAAACTCCTGGGCTTAAGCAATTACAGGCATGAGCCACCATGCCCAGCCCAAAACTTTTTTTTTTTTTTTGCGGGGGAAGACAGGGTCTCACTCTGTCCCCA... | TTTTATTTATTTAGAGACAGGGTCACACTCACTCTGTCACCCAGGCTGAAGTGCAGTGGTGGGATCATGGCTTACTACAGCCTCAAACTCTTGGCTTAAGCGAGCCTTGCACCTCAGACTCACGAGTAGCTGGGAATACAAGTGTGTGACACCACAACTGGCTAGTTTTTTTTAATTTTTGTAGAGACAGGGTCCTACCATGTTGCCCAGGTTCATCTCAAACTCCTGGGCTTAAGCAATTACAGGCATGAGCCACCATGCCCAGCCCAAAACTTTTTTTTTTTTTTTGCGGGGGAAGACAGGGTCTCACTCTGTCCCCA... | pathogenic | 99,240 |
The mutation in gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1) at chromosome 5, position 126552035—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Pyridoxine-dependent_epilepsy'] | GTCTGATCCTTTAGGTCTGTGTAAAAAGGGAGGCATGGTGAGAGCAATGAACAGGAAATTAAAAACAAACAAAAATAAATAAAAAATCTAAACCAAAGCTCAAAGGCTTTCAATACTGAAAAACTGATTTTAGACTACAGCAGTTTTTTTAAGTCCACTCACCACATAAATCAGACTTATATAAATTTTCAAAATAGACAAAGTTGTACCCAAGCCAGCGAAAGATTCTGCCCAGATCTTTGGTAAAGATGCTACTTGAAAGTCCCTGTTTTACTTCATTATTCCATGCAAAGACCTCTTCTTCATTCTAAAAGGAGAGA... | GTCTGATCCTTTAGGTCTGTGTAAAAAGGGAGGCATGGTGAGAGCAATGAACAGGAAATTAAAAACAAACAAAAATAAATAAAAAATCTAAACCAAAGCTCAAAGGCTTTCAATACTGAAAAACTGATTTTAGACTACAGCAGTTTTTTTAAGTCCACTCACCACATAAATCAGACTTATATAAATTTTCAAAATAGACAAAGTTGTACCCAAGCCAGCGAAAGATTCTGCCCAGATCTTTGGTAAAGATGCTACTTGAAAGTCCCTGTTTTACTTCATTATTCCATGCAAAGACCTCTTCTTCATTCTAAAAGGAGAGA... | pathogenic | 99,253 |
Regarding the variant at chromosome 5 and position 126559263, affecting gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Pyridoxine-dependent_epilepsy'] | AGATTATTTGAGAATGTCAGCTGTGTAAAAATAAAGATTTATTTTCATTTATGCAAAACACCTGAAAAAACAAATATGAAAAGTGTGAGAGGCCGGGTGCGGTGGCTCACACCTGTAATTTCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAATCCCATCTCTAATAAAAATACAAAAATTAGCCAGGCACGGTGATGGGTGCCTGTAGTGCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGAGGTGGAGGTTACGGTGAGCT... | AGATTATTTGAGAATGTCAGCTGTGTAAAAATAAAGATTTATTTTCATTTATGCAAAACACCTGAAAAAACAAATATGAAAAGTGTGAGAGGCCGGGTGCGGTGGCTCACACCTGTAATTTCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAATCCCATCTCTAATAAAAATACAAAAATTAGCCAGGCACGGTGATGGGTGCCTGTAGTGCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGAGGTGGAGGTTACGGTGAGCT... | pathogenic | 99,282 |
Is the genetic change at chromosome 5, position 126559300, within gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases', 'Pyridoxine-dependent_epilepsy'] | TTTATTTTCATTTATGCAAAACACCTGAAAAAACAAATATGAAAAGTGTGAGAGGCCGGGTGCGGTGGCTCACACCTGTAATTTCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAATCCCATCTCTAATAAAAATACAAAAATTAGCCAGGCACGGTGATGGGTGCCTGTAGTGCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGAGGTGGAGGTTACGGTGAGCTGAGATCACACCATTGCACTCCAGCCTGGCCAACAGAG... | TTTATTTTCATTTATGCAAAACACCTGAAAAAACAAATATGAAAAGTGTGAGAGGCCGGGTGCGGTGGCTCACACCTGTAATTTCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAATCCCATCTCTAATAAAAATACAAAAATTAGCCAGGCACGGTGATGGGTGCCTGTAGTGCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGAGGTGGAGGTTACGGTGAGCTGAGATCACACCATTGCACTCCAGCCTGGCCAACAGAG... | pathogenic | 99,286 |
The chromosome 5, position 126559434 genetic variant in gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1): benign or pathogenic? If pathogenic, indicate disease(s). | benign | AGACCAGCCTGGCCAACATGGCAAAATCCCATCTCTAATAAAAATACAAAAATTAGCCAGGCACGGTGATGGGTGCCTGTAGTGCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGAGGTGGAGGTTACGGTGAGCTGAGATCACACCATTGCACTCCAGCCTGGCCAACAGAGAGAGACTCCATCTCAAAAAAAAAAAAGAAAGAAAGAAAAAAGAAAAGTGTAAGGTAAAGATAATTTTCATATATCTTTTAGCTTATTCTAATTAATTTAGATTATGTCAGTCTTATAAAGAATTTGTTCACACT... | AGACCAGCCTGGCCAACATGGCAAAATCCCATCTCTAATAAAAATACAAAAATTAGCCAGGCACGGTGATGGGTGCCTGTAGTGCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCTGGAGGTGGAGGTTACGGTGAGCTGAGATCACACCATTGCACTCCAGCCTGGCCAACAGAGAGAGACTCCATCTCAAAAAAAAAAAAGAAAGAAAGAAAAAAGAAAAGTGTAAGGTAAAGATAATTTTCATATATCTTTTAGCTTATTCTAATTAATTTAGATTATGTCAGTCTTATAAAGAATTTGTTCACACT... | benign | 99,288 |
The genetic variant at chromosome 5, position 126561093, affecting gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Pyridoxine-dependent_epilepsy'] | GGGAAAAAGGCAAAGTCCCTGAATGATTAACAACATCTGCCATGAGCACAGAAAGAGAACTGGACCACATATTTGCCAGCCACATCTAGAGAGCATGTTGTTCTAGCAGTATTGCTGACACCTCTCTAACAGCAGAACTCATTAAAAAGTAGTGTTTTAAGAGCAAGACAATCGGGCCTATGCAGATATACTCACCAGTCGCCTCGCAGTGGTACACCTCTGGCCAGCTGTTCCCACAGCAGCGAAGAGAGCTGATGGAACAACTAAGCTGAGGTCTGCATCTTCAAAGGCTTAGGAAAGCACAAACACTTCCATCAGCG... | GGGAAAAAGGCAAAGTCCCTGAATGATTAACAACATCTGCCATGAGCACAGAAAGAGAACTGGACCACATATTTGCCAGCCACATCTAGAGAGCATGTTGTTCTAGCAGTATTGCTGACACCTCTCTAACAGCAGAACTCATTAAAAAGTAGTGTTTTAAGAGCAAGACAATCGGGCCTATGCAGATATACTCACCAGTCGCCTCGCAGTGGTACACCTCTGGCCAGCTGTTCCCACAGCAGCGAAGAGAGCTGATGGAACAACTAAGCTGAGGTCTGCATCTTCAAAGGCTTAGGAAAGCACAAACACTTCCATCAGCG... | pathogenic | 99,289 |
Classify the chromosome 5 variant at position 126575483 affecting gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAAATTAGCCGGGCGTGGTGGCGCACACCTGTAGTCCCAGCCACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTTCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAGAAAAAATTAGCCAAGCATGGTGGCATGCACCTGTAATCCCAGC... | CACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAAATTAGCCGGGCGTGGTGGCGCACACCTGTAGTCCCAGCCACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTTCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAGAAAAAATTAGCCAAGCATGGTGGCATGCACCTGTAATCCCAGC... | benign | 99,308 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 126582861, gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1): what disease(s) if pathogenic? | pathogenic; ['Pyridoxine-dependent_epilepsy'] | CACTCTTAACCTCATTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGCAGTGCAATGGCACGATCTCGGCTCACCGCCACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTCACTAATTTTGTATTTTTAGTGGAAATGGGGTTTCTCCATGTTGGCCAGGATGGTCTCTAACTCCCGACCTCAGGTGATCTGCCCACCTTGGCCTCCTGAAGTGCTGGGATTACAGGTGTGAGCCATCTTGTCCAGCTTTTTTTTTT... | CACTCTTAACCTCATTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGTCCAGGCTGCAGTGCAATGGCACGATCTCGGCTCACCGCCACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTCACTAATTTTGTATTTTTAGTGGAAATGGGGTTTCTCCATGTTGGCCAGGATGGTCTCTAACTCCCGACCTCAGGTGATCTGCCCACCTTGGCCTCCTGAAGTGCTGGGATTACAGGTGTGAGCCATCTTGTCCAGCTTTTTTTTTT... | pathogenic | 99,319 |
Regarding the variant at chromosome 5 and position 126592690, affecting gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'Pyridoxine-dependent_epilepsy'] | TGGGAGGCCAAAGAGGGCAGATCGTTTGAACTTAGGAGTTCGAGACCGCCCTGGGCAATATGGTGAAACCCCACCTCTACAAAAAATACAAAAAAATTAGCCAGGCATGGTGGTGTGTACGTGTAATCCCAGCCACTTGGGAGGCTGAGATGGGAGGATCCCAGGCCCAGAAGGCAGAGGTTACAGTGAGCCAAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGACCCTGTCTTAAAAAAAAAAAAAAAAAGCAATAACTTTAGGATGGTATGGAATGCAAGCATCACAGGTCACAAAATTTTATACACAC... | TGGGAGGCCAAAGAGGGCAGATCGTTTGAACTTAGGAGTTCGAGACCGCCCTGGGCAATATGGTGAAACCCCACCTCTACAAAAAATACAAAAAAATTAGCCAGGCATGGTGGTGTGTACGTGTAATCCCAGCCACTTGGGAGGCTGAGATGGGAGGATCCCAGGCCCAGAAGGCAGAGGTTACAGTGAGCCAAGATTGGGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGACCCTGTCTTAAAAAAAAAAAAAAAAAGCAATAACTTTAGGATGGTATGGAATGCAAGCATCACAGGTCACAAAATTTTATACACAC... | pathogenic | 99,330 |
Considering the variant on chromosome 5, location 126593308, involving gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | AGTGGTATTTTTCTGCCCAAGGATACTTTTGATTGTGTATAATGGAACCCTAGGCCATACTTCTATCCATAATTAAAGTAGAGGAAAGATGTGCTTCATGCTTTACACAAAGACGTATCTTGGCTGATAAAAAAAAAAAGCTTCATCCAACCCAGGGCTCTGTTGGACAGGCTGCTACTCTGCAATCCACCCCAACCCCACCCAACCCCCCTTGCAATCACTCACTCAGAGAAAATACTGCAGCTCAGTAGTCCCTCAGCAGTCCCACACCCAACAGCACAGGGTTTAACTCAAATGTATTGAGGCTTTTCCTGTGCCAG... | AGTGGTATTTTTCTGCCCAAGGATACTTTTGATTGTGTATAATGGAACCCTAGGCCATACTTCTATCCATAATTAAAGTAGAGGAAAGATGTGCTTCATGCTTTACACAAAGACGTATCTTGGCTGATAAAAAAAAAAAGCTTCATCCAACCCAGGGCTCTGTTGGACAGGCTGCTACTCTGCAATCCACCCCAACCCCACCCAACCCCCCTTGCAATCACTCACTCAGAGAAAATACTGCAGCTCAGTAGTCCCTCAGCAGTCCCACACCCAACAGCACAGGGTTTAACTCAAATGTATTGAGGCTTTTCCTGTGCCAG... | benign | 99,333 |
Is the genetic change at chromosome 5, position 126593352, within gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Pyridoxine-dependent_epilepsy'] | GAACCCTAGGCCATACTTCTATCCATAATTAAAGTAGAGGAAAGATGTGCTTCATGCTTTACACAAAGACGTATCTTGGCTGATAAAAAAAAAAAGCTTCATCCAACCCAGGGCTCTGTTGGACAGGCTGCTACTCTGCAATCCACCCCAACCCCACCCAACCCCCCTTGCAATCACTCACTCAGAGAAAATACTGCAGCTCAGTAGTCCCTCAGCAGTCCCACACCCAACAGCACAGGGTTTAACTCAAATGTATTGAGGCTTTTCCTGTGCCAGGCTCTCCAGTAAGCACTTTAAATGATTAACTCATTTAACCCTCC... | GAACCCTAGGCCATACTTCTATCCATAATTAAAGTAGAGGAAAGATGTGCTTCATGCTTTACACAAAGACGTATCTTGGCTGATAAAAAAAAAAAGCTTCATCCAACCCAGGGCTCTGTTGGACAGGCTGCTACTCTGCAATCCACCCCAACCCCACCCAACCCCCCTTGCAATCACTCACTCAGAGAAAATACTGCAGCTCAGTAGTCCCTCAGCAGTCCCACACCCAACAGCACAGGGTTTAACTCAAATGTATTGAGGCTTTTCCTGTGCCAGGCTCTCCAGTAAGCACTTTAAATGATTAACTCATTTAACCCTCC... | pathogenic | 99,335 |
Determine if the mutation at chromosome 5, position 126595006 in gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['ALDH7A1-related_disorder', 'Pyridoxine-dependent_epilepsy'] | GTCAGCTTCATCTGGGAACATGTAAGGCATATTAGAAATGCAGAACCTTGAGCTCCAACCCAGACTTCGGAAATCAGAAGCTTCATTCTAACAAAATCCTCAGGTACTTCAGAAGCACTGCCTTAAATGGCCCCCTGCCTAATCTTTCTACGCTTCACCTTTTCTATGGTTCTTTCCTTTTCACGCCCCCACCCAAGAGAGGACAGTCTCCCCCAGACAGTCCTAAATGACAAATGAAAAATAAACACATTATTCTCTTCATTTGTGATTTTATATTATTCTTGACCTGCCTAACTGGCTTCTGCCTCTAAAGAAAGCCT... | GTCAGCTTCATCTGGGAACATGTAAGGCATATTAGAAATGCAGAACCTTGAGCTCCAACCCAGACTTCGGAAATCAGAAGCTTCATTCTAACAAAATCCTCAGGTACTTCAGAAGCACTGCCTTAAATGGCCCCCTGCCTAATCTTTCTACGCTTCACCTTTTCTATGGTTCTTTCCTTTTCACGCCCCCACCCAAGAGAGGACAGTCTCCCCCAGACAGTCCTAAATGACAAATGAAAAATAAACACATTATTCTCTTCATTTGTGATTTTATATTATTCTTGACCTGCCTAACTGGCTTCTGCCTCTAAAGAAAGCCT... | pathogenic | 99,339 |
Does the genetic variant at chromosome 5, position 126595057, impacting gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Pyridoxine-dependent_epilepsy'] | GCTCCAACCCAGACTTCGGAAATCAGAAGCTTCATTCTAACAAAATCCTCAGGTACTTCAGAAGCACTGCCTTAAATGGCCCCCTGCCTAATCTTTCTACGCTTCACCTTTTCTATGGTTCTTTCCTTTTCACGCCCCCACCCAAGAGAGGACAGTCTCCCCCAGACAGTCCTAAATGACAAATGAAAAATAAACACATTATTCTCTTCATTTGTGATTTTATATTATTCTTGACCTGCCTAACTGGCTTCTGCCTCTAAAGAAAGCCTGCACAAACTCCTTGTGTATAATTTGAATTAAACACACACACACACACACAC... | GCTCCAACCCAGACTTCGGAAATCAGAAGCTTCATTCTAACAAAATCCTCAGGTACTTCAGAAGCACTGCCTTAAATGGCCCCCTGCCTAATCTTTCTACGCTTCACCTTTTCTATGGTTCTTTCCTTTTCACGCCCCCACCCAAGAGAGGACAGTCTCCCCCAGACAGTCCTAAATGACAAATGAAAAATAAACACATTATTCTCTTCATTTGTGATTTTATATTATTCTTGACCTGCCTAACTGGCTTCTGCCTCTAAAGAAAGCCTGCACAAACTCCTTGTGTATAATTTGAATTAAACACACACACACACACACAC... | pathogenic | 99,342 |
A genetic alteration at chromosome 5, position 126595116, in gene ALDH7A1 (aldehyde dehydrogenase 7 family member A1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Pyridoxine-dependent_epilepsy'] | AGAAGCACTGCCTTAAATGGCCCCCTGCCTAATCTTTCTACGCTTCACCTTTTCTATGGTTCTTTCCTTTTCACGCCCCCACCCAAGAGAGGACAGTCTCCCCCAGACAGTCCTAAATGACAAATGAAAAATAAACACATTATTCTCTTCATTTGTGATTTTATATTATTCTTGACCTGCCTAACTGGCTTCTGCCTCTAAAGAAAGCCTGCACAAACTCCTTGTGTATAATTTGAATTAAACACACACACACACACACACACACACACACACACACTCTTACCTGTCGGACTCTTGCTATTGGCTCGTTGTTAGCAGGG... | AGAAGCACTGCCTTAAATGGCCCCCTGCCTAATCTTTCTACGCTTCACCTTTTCTATGGTTCTTTCCTTTTCACGCCCCCACCCAAGAGAGGACAGTCTCCCCCAGACAGTCCTAAATGACAAATGAAAAATAAACACATTATTCTCTTCATTTGTGATTTTATATTATTCTTGACCTGCCTAACTGGCTTCTGCCTCTAAAGAAAGCCTGCACAAACTCCTTGTGTATAATTTGAATTAAACACACACACACACACACACACACACACACACACACTCTTACCTGTCGGACTCTTGCTATTGGCTCGTTGTTAGCAGGG... | pathogenic | 99,345 |
A genetic alteration at chromosome 5, position 126805697, in gene LMNB1 (lamin B1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TGATTCTCCTGCCTGAGCCTCTCGAGTAGGTGGGACTACAGGCATTGCGCCACCATGCCCAGCTTAAGTTTTTGTATTTTTTGGTAAAGACGAGGTTTTACCATGTTGGCAAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCAGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTGAACCTCAGTTTTTTGGTAGTTGGTTTTATAAACTGAAATAATTTTTATGCAAAATATTAGGGAGGCCGTTATTTATTGTTACCTCTATGTAACAAAATGGGAGGTACTTGCAAGC... | TGATTCTCCTGCCTGAGCCTCTCGAGTAGGTGGGACTACAGGCATTGCGCCACCATGCCCAGCTTAAGTTTTTGTATTTTTTGGTAAAGACGAGGTTTTACCATGTTGGCAAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCAGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCCTGAACCTCAGTTTTTTGGTAGTTGGTTTTATAAACTGAAATAATTTTTATGCAAAATATTAGGGAGGCCGTTATTTATTGTTACCTCTATGTAACAAAATGGGAGGTACTTGCAAGC... | benign | 99,364 |
Chromosome 5, position 128084239, gene SLC12A2: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TCTACTAAAAATACAAAAAATTAGCAGGGCGTGATGGCGGGCGCCTGTAGTCCCAACTACTCAGGAGGCTGAGGCAGGAGGAGAATGGCGTGAACCCAGGAGGCGGAGTTTGCAGTGAGCCAAGATCGCACCCCTGCACTACAGCTTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGTACATAAATAAAAACCAAGTAATTGGAGGACGCCATTCATTGATTTTACTTAGGACTTTGGGCATAATCTATAGGTTTAAAAATTTCTGCTGCTAAGAAAGTGGGAACACAGTTATATTCCCTTACATTT... | TCTACTAAAAATACAAAAAATTAGCAGGGCGTGATGGCGGGCGCCTGTAGTCCCAACTACTCAGGAGGCTGAGGCAGGAGGAGAATGGCGTGAACCCAGGAGGCGGAGTTTGCAGTGAGCCAAGATCGCACCCCTGCACTACAGCTTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGTACATAAATAAAAACCAAGTAATTGGAGGACGCCATTCATTGATTTTACTTAGGACTTTGGGCATAATCTATAGGTTTAAAAATTTCTGCTGCTAAGAAAGTGGGAACACAGTTATATTCCCTTACATTT... | benign | 99,448 |
Gene SLC12A2 variant at chromosome 5, position 128084239—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TCTACTAAAAATACAAAAAATTAGCAGGGCGTGATGGCGGGCGCCTGTAGTCCCAACTACTCAGGAGGCTGAGGCAGGAGGAGAATGGCGTGAACCCAGGAGGCGGAGTTTGCAGTGAGCCAAGATCGCACCCCTGCACTACAGCTTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGTACATAAATAAAAACCAAGTAATTGGAGGACGCCATTCATTGATTTTACTTAGGACTTTGGGCATAATCTATAGGTTTAAAAATTTCTGCTGCTAAGAAAGTGGGAACACAGTTATATTCCCTTACATTT... | TCTACTAAAAATACAAAAAATTAGCAGGGCGTGATGGCGGGCGCCTGTAGTCCCAACTACTCAGGAGGCTGAGGCAGGAGGAGAATGGCGTGAACCCAGGAGGCGGAGTTTGCAGTGAGCCAAGATCGCACCCCTGCACTACAGCTTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGTACATAAATAAAAACCAAGTAATTGGAGGACGCCATTCATTGATTTTACTTAGGACTTTGGGCATAATCTATAGGTTTAAAAATTTCTGCTGCTAAGAAAGTGGGAACACAGTTATATTCCCTTACATTT... | benign | 99,449 |
The genetic variant at chromosome 5, position 128084251, affecting gene SLC12A2: benign or pathogenic? Disease name(s) if pathogenic? | benign | ACAAAAAATTAGCAGGGCGTGATGGCGGGCGCCTGTAGTCCCAACTACTCAGGAGGCTGAGGCAGGAGGAGAATGGCGTGAACCCAGGAGGCGGAGTTTGCAGTGAGCCAAGATCGCACCCCTGCACTACAGCTTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGTACATAAATAAAAACCAAGTAATTGGAGGACGCCATTCATTGATTTTACTTAGGACTTTGGGCATAATCTATAGGTTTAAAAATTTCTGCTGCTAAGAAAGTGGGAACACAGTTATATTCCCTTACATTTTACCGAAGAGAA... | ACAAAAAATTAGCAGGGCGTGATGGCGGGCGCCTGTAGTCCCAACTACTCAGGAGGCTGAGGCAGGAGGAGAATGGCGTGAACCCAGGAGGCGGAGTTTGCAGTGAGCCAAGATCGCACCCCTGCACTACAGCTTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGTACATAAATAAAAACCAAGTAATTGGAGGACGCCATTCATTGATTTTACTTAGGACTTTGGGCATAATCTATAGGTTTAAAAATTTCTGCTGCTAAGAAAGTGGGAACACAGTTATATTCCCTTACATTTTACCGAAGAGAA... | benign | 99,451 |
Does the variant impacting SLC12A2 (solute carrier family 12 member 2) on chromosome 5, position 128112949, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GCAAATCTGAGAGGGCATGAAAAGGGTAGAACCACAGACTGAGAATGACCTCTTCCCTTGCACTTGCCATAGGAAAAAGACCAAAGATGAACTCTGATATGCAAAATAACTTCTATTAAAATAATGGTGCTCTGAAGACTCTTAACTAAAAAGAATTTTTTTAAGTATTAATTCCATGGACAATATAAAATCTGTGTGATTGTTTGCAGTATGAAGATAACGTTTCTACTTATGCAGTATTCTCATGACTGTACTTTACATTTTTAGAATTTTATAATAAAACTACCTTTATTAAAAAATATATATACACACAATTATTG... | GCAAATCTGAGAGGGCATGAAAAGGGTAGAACCACAGACTGAGAATGACCTCTTCCCTTGCACTTGCCATAGGAAAAAGACCAAAGATGAACTCTGATATGCAAAATAACTTCTATTAAAATAATGGTGCTCTGAAGACTCTTAACTAAAAAGAATTTTTTTAAGTATTAATTCCATGGACAATATAAAATCTGTGTGATTGTTTGCAGTATGAAGATAACGTTTCTACTTATGCAGTATTCTCATGACTGTACTTTACATTTTTAGAATTTTATAATAAAACTACCTTTATTAAAAAATATATATACACACAATTATTG... | benign | 99,457 |
Variant in gene SLC12A2 (solute carrier family 12 member 2), located at chromosome 5 position 128184374: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Inborn_genetic_diseases'] | TACTGGAAAATCAGGCTTGTTGATGATCCTTTTCTACATCCTGTCCCAGTTCCTTCTTTCCCCAAAATGCTATGAACTTAATCTGCCATCAACTATATCTTCAGTATGGCCCACAGGTCATATTTGGGCCCTGAGATAAGTGTTCTTGGATGGAAGAATAATCCAAAAATAATTAAATATTTGTCTACTAGTTTTTACTGAAATTTATGTACTTATCAATATAGTTTGACTAAAATTAACTTAAGAAACATTAGCTTCCATTTAAATTTTATTATTAATGTCTTTGTCCATTACTCAGTGCTAAGGAGAGATTCAGAGAA... | TACTGGAAAATCAGGCTTGTTGATGATCCTTTTCTACATCCTGTCCCAGTTCCTTCTTTCCCCAAAATGCTATGAACTTAATCTGCCATCAACTATATCTTCAGTATGGCCCACAGGTCATATTTGGGCCCTGAGATAAGTGTTCTTGGATGGAAGAATAATCCAAAAATAATTAAATATTTGTCTACTAGTTTTTACTGAAATTTATGTACTTATCAATATAGTTTGACTAAAATTAACTTAAGAAACATTAGCTTCCATTTAAATTTTATTATTAATGTCTTTGTCCATTACTCAGTGCTAAGGAGAGATTCAGAGAA... | pathogenic | 99,476 |
Variant on chromosome 5, at position 128259353, affecting FBN2 (fibrillin 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CGCATAAATTCTTAAACCATGTATTAAATTAATCTCTAAGAGTCTTGGAAACATTTCTGTGCCTGTTTTGGCAGTGTATCAAAAGGGAGTTCATGCTAAATACTTTGTTAAATCTATCCACTTCTCCAGTGAATAAACTGTATACCATTTTAAGAGATAAGGTTTAGATTATTTTTGAAAATGCCTTTTGGCCTGGGGTATGCCCGCTATTACCTTTGCTTAAAAACTTGGGTTCAGGAAATTTCTACCTTAGAGAAGTAAGATTCTCTAAAAGAATGTTTCACTTCCTCATGGATACTTTATGGGGGCATTAGCATGAA... | CGCATAAATTCTTAAACCATGTATTAAATTAATCTCTAAGAGTCTTGGAAACATTTCTGTGCCTGTTTTGGCAGTGTATCAAAAGGGAGTTCATGCTAAATACTTTGTTAAATCTATCCACTTCTCCAGTGAATAAACTGTATACCATTTTAAGAGATAAGGTTTAGATTATTTTTGAAAATGCCTTTTGGCCTGGGGTATGCCCGCTATTACCTTTGCTTAAAAACTTGGGTTCAGGAAATTTCTACCTTAGAGAAGTAAGATTCTCTAAAAGAATGTTTCACTTCCTCATGGATACTTTATGGGGGCATTAGCATGAA... | benign | 99,478 |
The mutation in gene FBN2 (fibrillin 2) at chromosome 5, position 128261717—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TCATCGTTCCCTTGAGAGATGACATAACGGATGTGGTTGTTGAGGGGCTGGATGGCGGGCCTTAGTTCCAGGATGTGCTCCTTAGAGCCGAGGTGGGAGAGGTTGAACTTCATGTTGACGGGGCTGTCCATGTCGACACTCTCTAGGCTGATCTGTTCAACCTGGAGGAAGAACAGGAAATGATTTGGGACAAGCTTCTACAGCACAAGCAGAGGACTAGAAAGAGATCAGCTGCAGGGGCTTTGGTCACGAGGACAGGCTGTGGCTTCCCACTCCCGCTTTCTGCACTCTCCTTACCAGCAGTGGCTGTGAAAGAGGCT... | TCATCGTTCCCTTGAGAGATGACATAACGGATGTGGTTGTTGAGGGGCTGGATGGCGGGCCTTAGTTCCAGGATGTGCTCCTTAGAGCCGAGGTGGGAGAGGTTGAACTTCATGTTGACGGGGCTGTCCATGTCGACACTCTCTAGGCTGATCTGTTCAACCTGGAGGAAGAACAGGAAATGATTTGGGACAAGCTTCTACAGCACAAGCAGAGGACTAGAAAGAGATCAGCTGCAGGGGCTTTGGTCACGAGGACAGGCTGTGGCTTCCCACTCCCGCTTTCTGCACTCTCCTTACCAGCAGTGGCTGTGAAAGAGGCT... | benign | 99,500 |
Assess the variant on chromosome 5, position 128287441, impacting FBN2 (fibrillin 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | AAAATTTTGCAGACATTTCAGCTATCAGCATGGTATAATGAAAAGCTTGAAGATCAGAAAAGTTTCAGAACCTGTATCTTTTGTAGTGCTGTTTAACAACGAAAAGAATACAAATGTAGAATGCTGCTCTTGGTCTTTTCTTTGAAAAAGTAAGTTCAGAGGATGATAGAATTTTAGAGCTAGAGCAGATGCACCCTTCCCAACACCCACCCCCACCACTCCTATCAATCATGCAGACTAAGTTTCTCACTGTATGCAGATGAAGGAACTGAAGAACAGAGAATTGAATCACTTGCAAGTCATCCAGATCATTTATGGCA... | AAAATTTTGCAGACATTTCAGCTATCAGCATGGTATAATGAAAAGCTTGAAGATCAGAAAAGTTTCAGAACCTGTATCTTTTGTAGTGCTGTTTAACAACGAAAAGAATACAAATGTAGAATGCTGCTCTTGGTCTTTTCTTTGAAAAAGTAAGTTCAGAGGATGATAGAATTTTAGAGCTAGAGCAGATGCACCCTTCCCAACACCCACCCCCACCACTCCTATCAATCATGCAGACTAAGTTTCTCACTGTATGCAGATGAAGGAACTGAAGAACAGAGAATTGAATCACTTGCAAGTCATCCAGATCATTTATGGCA... | benign | 99,599 |
Is the genetic change at chromosome 5, position 128305089, within gene FBN2 (fibrillin 2) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TTTTTACAAGTTCCATTTCCACATGGATGCCGCTCGCACTCATCAACATCTATAAAGAAATATAGGCTCAAAAAATTCAATTTTTAACTAGAAAAAAATGGGCTATTAACCGTTTTATATGTTTAACTTATGGAATTACTTAGATTTTCCTCATTCAGTACTAGAAACTCATATCTACTTGAGGAAAATGAGTAAGAGATACGGAAAAATCAAAATTACAAGAATCAAAATTGTAAAATTCTAAGAAAATAGTACAGTTTAACAGGTACTGACTGTACTCAGACAATACTCAGACATAGCCTAAGAGAGCATCCCCCTAG... | TTTTTACAAGTTCCATTTCCACATGGATGCCGCTCGCACTCATCAACATCTATAAAGAAATATAGGCTCAAAAAATTCAATTTTTAACTAGAAAAAAATGGGCTATTAACCGTTTTATATGTTTAACTTATGGAATTACTTAGATTTTCCTCATTCAGTACTAGAAACTCATATCTACTTGAGGAAAATGAGTAAGAGATACGGAAAAATCAAAATTACAAGAATCAAAATTGTAAAATTCTAAGAAAATAGTACAGTTTAACAGGTACTGACTGTACTCAGACAATACTCAGACATAGCCTAAGAGAGCATCCCCCTAG... | benign | 99,651 |
A genetic alteration at chromosome 5, position 128305090, in gene FBN2 (fibrillin 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TTTTACAAGTTCCATTTCCACATGGATGCCGCTCGCACTCATCAACATCTATAAAGAAATATAGGCTCAAAAAATTCAATTTTTAACTAGAAAAAAATGGGCTATTAACCGTTTTATATGTTTAACTTATGGAATTACTTAGATTTTCCTCATTCAGTACTAGAAACTCATATCTACTTGAGGAAAATGAGTAAGAGATACGGAAAAATCAAAATTACAAGAATCAAAATTGTAAAATTCTAAGAAAATAGTACAGTTTAACAGGTACTGACTGTACTCAGACAATACTCAGACATAGCCTAAGAGAGCATCCCCCTAGT... | TTTTACAAGTTCCATTTCCACATGGATGCCGCTCGCACTCATCAACATCTATAAAGAAATATAGGCTCAAAAAATTCAATTTTTAACTAGAAAAAAATGGGCTATTAACCGTTTTATATGTTTAACTTATGGAATTACTTAGATTTTCCTCATTCAGTACTAGAAACTCATATCTACTTGAGGAAAATGAGTAAGAGATACGGAAAAATCAAAATTACAAGAATCAAAATTGTAAAATTCTAAGAAAATAGTACAGTTTAACAGGTACTGACTGTACTCAGACAATACTCAGACATAGCCTAAGAGAGCATCCCCCTAGT... | benign | 99,652 |
Clinical classification of chromosome 5, position 128305093, gene FBN2 (fibrillin 2): benign or pathogenic? Disease(s) if pathogenic? | benign | TACAAGTTCCATTTCCACATGGATGCCGCTCGCACTCATCAACATCTATAAAGAAATATAGGCTCAAAAAATTCAATTTTTAACTAGAAAAAAATGGGCTATTAACCGTTTTATATGTTTAACTTATGGAATTACTTAGATTTTCCTCATTCAGTACTAGAAACTCATATCTACTTGAGGAAAATGAGTAAGAGATACGGAAAAATCAAAATTACAAGAATCAAAATTGTAAAATTCTAAGAAAATAGTACAGTTTAACAGGTACTGACTGTACTCAGACAATACTCAGACATAGCCTAAGAGAGCATCCCCCTAGTAGA... | TACAAGTTCCATTTCCACATGGATGCCGCTCGCACTCATCAACATCTATAAAGAAATATAGGCTCAAAAAATTCAATTTTTAACTAGAAAAAAATGGGCTATTAACCGTTTTATATGTTTAACTTATGGAATTACTTAGATTTTCCTCATTCAGTACTAGAAACTCATATCTACTTGAGGAAAATGAGTAAGAGATACGGAAAAATCAAAATTACAAGAATCAAAATTGTAAAATTCTAAGAAAATAGTACAGTTTAACAGGTACTGACTGTACTCAGACAATACTCAGACATAGCCTAAGAGAGCATCCCCCTAGTAGA... | benign | 99,654 |
Evaluate this variant at chromosome 5, position 128319012, gene FBN2 (fibrillin 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | AACTGGGCGACTGCTCCTCTGATTCCTCTCCTCATCCCTGTCCCCTCCACTCACTCCTCTCTTGCTACAAGCAGCCTTGTGCTGTGTCTCTAACGCCAGCCTTCTCCTGCCACATGCCCCTTGCACTGGCTTCTCCTTGTAACTGGAGGCTTCCCTCAGTGGTCCAGTTGGTCTGTCCCCTCCTTAAAGGCTGTGACTCCCCCATCCCTAATATAACATAGCGCTTCTCCTCCAACCACCTCCAGTGCCAATTCTGTTTGTTCTTGCTTTTATTTATCTCCCTGCCTCTAGAATGTAAACACAAAAGCAGAGAATGTGCT... | AACTGGGCGACTGCTCCTCTGATTCCTCTCCTCATCCCTGTCCCCTCCACTCACTCCTCTCTTGCTACAAGCAGCCTTGTGCTGTGTCTCTAACGCCAGCCTTCTCCTGCCACATGCCCCTTGCACTGGCTTCTCCTTGTAACTGGAGGCTTCCCTCAGTGGTCCAGTTGGTCTGTCCCCTCCTTAAAGGCTGTGACTCCCCCATCCCTAATATAACATAGCGCTTCTCCTCCAACCACCTCCAGTGCCAATTCTGTTTGTTCTTGCTTTTATTTATCTCCCTGCCTCTAGAATGTAAACACAAAAGCAGAGAATGTGCT... | benign | 99,713 |
Gene mutation in FBN2 (fibrillin 2) at chromosome 5, position 128369346—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GAATCAATCGTTTATACCAATCTGCTAAACAAAAATGGCACCTTATTTTTAATTATACGGAGAGTGGGCATCTTTTTACATGGTATTCTTCCATTTGCATTTCTACTTTCTGAAATCCTGTTTATGTACACTGCTGTTTTTTCTATAGAGGATTTCAACTCTCCTTATTGATTAATGTAAATTCCATAAAGATTAAGAAATGATAAATAAAAATATTTTTCCAGATTACTTGTGTATTTTACTATTTAGGCCTGCTTTGAAAGTCTTTTACCATTACAAAATAAAAAAGAATTTATATTCTATATGAAAATTATGTTTTA... | GAATCAATCGTTTATACCAATCTGCTAAACAAAAATGGCACCTTATTTTTAATTATACGGAGAGTGGGCATCTTTTTACATGGTATTCTTCCATTTGCATTTCTACTTTCTGAAATCCTGTTTATGTACACTGCTGTTTTTTCTATAGAGGATTTCAACTCTCCTTATTGATTAATGTAAATTCCATAAAGATTAAGAAATGATAAATAAAAATATTTTTCCAGATTACTTGTGTATTTTACTATTTAGGCCTGCTTTGAAAGTCTTTTACCATTACAAAATAAAAAAGAATTTATATTCTATATGAAAATTATGTTTTA... | benign | 99,853 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 128408807, gene FBN2 (fibrillin 2). What disease(s) is it linked to if pathogenic? | benign | TTATTTCTGGAATGTTCCATCTAATATTTTTGAATCACAGTGGGAACTGCAGAAAACAAAACCATGGAAAGTGAAACCGTGGATAAGGGGGAATTAGAGTATTAAATGAATCAAACTTACTACACAGTGAGCCAACTGGCAACAGTAACCCTAAAATAGTTTATCTGCTCAGTTATACAGACTTAATATTTCACGAAAAATGATTTACCTAATGCAAGATAGAAACTCTGATTCATCTGTAAAACACAAACAATTCTCATTCAAAGACACGACATGAGGCTCCCAACAGACATCTTACTTCTCAAAGCAGGCTGTTAGCA... | TTATTTCTGGAATGTTCCATCTAATATTTTTGAATCACAGTGGGAACTGCAGAAAACAAAACCATGGAAAGTGAAACCGTGGATAAGGGGGAATTAGAGTATTAAATGAATCAAACTTACTACACAGTGAGCCAACTGGCAACAGTAACCCTAAAATAGTTTATCTGCTCAGTTATACAGACTTAATATTTCACGAAAAATGATTTACCTAATGCAAGATAGAAACTCTGATTCATCTGTAAAACACAAACAATTCTCATTCAAAGACACGACATGAGGCTCCCAACAGACATCTTACTTCTCAAAGCAGGCTGTTAGCA... | benign | 99,902 |
Evaluate this variant at chromosome 5, position 128464935, gene FBN2 (fibrillin 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GTATTTGCTGAGCTTCTACTGTATATTAGGCACTGTTCTAGATGTCTGAGACATCAGTGAATAAGTGAAAAAGATTTCTGCAGTCATAGAGCTTACATTCTAGTCAAAAGAGAATTAAAAACAACAAAGAAATGAAGTTAGTATGTTAGAAGGTAATAAAGGGTACCGAATAAACAAAAAGTAGTACTATAGTAAATCCAGTCATTATTAAACTAGTAAATCAATATAGTAGAGTATTTTATTTTTAATAATAATCTATATCCACTATATAAATTACATGGTAATCTGTATACTAAGATGTAGTAAAGACCATATGGAGC... | GTATTTGCTGAGCTTCTACTGTATATTAGGCACTGTTCTAGATGTCTGAGACATCAGTGAATAAGTGAAAAAGATTTCTGCAGTCATAGAGCTTACATTCTAGTCAAAAGAGAATTAAAAACAACAAAGAAATGAAGTTAGTATGTTAGAAGGTAATAAAGGGTACCGAATAAACAAAAAGTAGTACTATAGTAAATCCAGTCATTATTAAACTAGTAAATCAATATAGTAGAGTATTTTATTTTTAATAATAATCTATATCCACTATATAAATTACATGGTAATCTGTATACTAAGATGTAGTAAAGACCATATGGAGC... | benign | 99,918 |
The genetic variant at chromosome 5, position 131162689, affecting gene HINT1 (histidine triad nucleotide binding protein 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | GTGGACTCTGCTTACCTTACTCATGCAGTAAGGTCCATTGTACAGATGGACAATGGACAAAAATTGTAAGTTGGGGAAATTATGATTTTTCAACTTTACAATGGTGTGGCGATATGCATTCAGGAGAAACCATACTTCGAATTCTGATCCTTTTCCAGACTGGTGATATGCAGTAAAATACTCTTACATGAGATATTCAACACTCTGTTACAGAATAGGCTCTGTATTAGATGATTTTGCCCAACTGTAGGTTAACGTTAAGTGTTCCGAGCAAGCTTAAGTTAGACTAGGCTAGGCTATAATGTTCAGTAAGTTAGGTG... | GTGGACTCTGCTTACCTTACTCATGCAGTAAGGTCCATTGTACAGATGGACAATGGACAAAAATTGTAAGTTGGGGAAATTATGATTTTTCAACTTTACAATGGTGTGGCGATATGCATTCAGGAGAAACCATACTTCGAATTCTGATCCTTTTCCAGACTGGTGATATGCAGTAAAATACTCTTACATGAGATATTCAACACTCTGTTACAGAATAGGCTCTGTATTAGATGATTTTGCCCAACTGTAGGTTAACGTTAAGTGTTCCGAGCAAGCTTAAGTTAGACTAGGCTAGGCTATAATGTTCAGTAAGTTAGGTG... | benign | 99,971 |
Variant on chromosome 5, at position 131165088, affecting HINT1 (histidine triad nucleotide binding protein 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TTGTCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCTACTGCACCCGGACTCCATGGAAGTCTTATGGGAAGACCAACTTTAAAAGTATAATCACCAAAGGTCATACATGTTACAAAGGAAAAATATGAATGATCATTACAGGAAAAGCCTGATTTAGATTAAGTGTTTAAGAACAACTCTGAGGCAGTGACATTTAAACTGGGAGCCAATGAATGCATAAAAATTGGCCATGCTAATCCTTGCCTGCCTCTCCAGATCTCCTGCAGGTCTTC... | TTGTCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCTACTGCACCCGGACTCCATGGAAGTCTTATGGGAAGACCAACTTTAAAAGTATAATCACCAAAGGTCATACATGTTACAAAGGAAAAATATGAATGATCATTACAGGAAAAGCCTGATTTAGATTAAGTGTTTAAGAACAACTCTGAGGCAGTGACATTTAAACTGGGAGCCAATGAATGCATAAAAATTGGCCATGCTAATCCTTGCCTGCCTCTCCAGATCTCCTGCAGGTCTTC... | benign | 99,972 |
A genetic alteration at chromosome 5, position 131199511, in gene LYRM7 (LYR motif containing 7)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TCAGACCAGTTCTTTCTTAATTAAGTGAAATATTCAGTTTGCCTTTTGGGTTGAATTTGTTTTAGTGTTGTCTTCTGTCTTTTTTTTTTTTTTTTTTTTTTGAGAGAGAGAGTCTGTCTCCCAGGCTGGAGTGCAGTAGCATAATTATTGCTCACTGTAATCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCTTGAGTAGCTAGGAATACAGGTGTGCACCACCATGCCTAGCTAATTTTTAAACAATTTTTTGTAGAGACAGAGTCTCGCTGTGTTTCCCAAGCTGGTCTCAAACTCCTGGCCTCAAGC... | TCAGACCAGTTCTTTCTTAATTAAGTGAAATATTCAGTTTGCCTTTTGGGTTGAATTTGTTTTAGTGTTGTCTTCTGTCTTTTTTTTTTTTTTTTTTTTTTGAGAGAGAGAGTCTGTCTCCCAGGCTGGAGTGCAGTAGCATAATTATTGCTCACTGTAATCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCTTGAGTAGCTAGGAATACAGGTGTGCACCACCATGCCTAGCTAATTTTTAAACAATTTTTTGTAGAGACAGAGTCTCGCTGTGTTTCCCAAGCTGGTCTCAAACTCCTGGCCTCAAGC... | benign | 99,986 |
Variant chromosome 5, position 131199511, gene LYRM7 (LYR motif containing 7): benign or pathogenic? Disease(s)? | benign | TCAGACCAGTTCTTTCTTAATTAAGTGAAATATTCAGTTTGCCTTTTGGGTTGAATTTGTTTTAGTGTTGTCTTCTGTCTTTTTTTTTTTTTTTTTTTTTTGAGAGAGAGAGTCTGTCTCCCAGGCTGGAGTGCAGTAGCATAATTATTGCTCACTGTAATCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCTTGAGTAGCTAGGAATACAGGTGTGCACCACCATGCCTAGCTAATTTTTAAACAATTTTTTGTAGAGACAGAGTCTCGCTGTGTTTCCCAAGCTGGTCTCAAACTCCTGGCCTCAAGC... | TCAGACCAGTTCTTTCTTAATTAAGTGAAATATTCAGTTTGCCTTTTGGGTTGAATTTGTTTTAGTGTTGTCTTCTGTCTTTTTTTTTTTTTTTTTTTTTTGAGAGAGAGAGTCTGTCTCCCAGGCTGGAGTGCAGTAGCATAATTATTGCTCACTGTAATCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTCTTGAGTAGCTAGGAATACAGGTGTGCACCACCATGCCTAGCTAATTTTTAAACAATTTTTTGTAGAGACAGAGTCTCGCTGTGTTTCCCAAGCTGGTCTCAAACTCCTGGCCTCAAGC... | benign | 99,987 |
Clinical classification of chromosome 5, position 132370022, gene SLC22A5 (solute carrier family 22 member 5): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Renal_carnitine_transport_defect'] | TTTATGCAAATGTTTAGATTTCCTTGTTAAAAATCTGCTGGCCAGGTTAGGTTCCCTTTCTGTAGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGT... | TTTATGCAAATGTTTAGATTTCCTTGTTAAAAATCTGCTGGCCAGGTTAGGTTCCCTTTCTGTAGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGT... | pathogenic | 100,021 |
The genetic variant at chromosome 5, position 132370028, affecting gene SLC22A5 (solute carrier family 22 member 5): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Renal_carnitine_transport_defect'] | CAAATGTTTAGATTTCCTTGTTAAAAATCTGCTGGCCAGGTTAGGTTCCCTTTCTGTAGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAA... | CAAATGTTTAGATTTCCTTGTTAAAAATCTGCTGGCCAGGTTAGGTTCCCTTTCTGTAGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAA... | pathogenic | 100,024 |
Variant in gene SLC22A5 (solute carrier family 22 member 5), located at chromosome 5 position 132370033: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Renal_carnitine_transport_defect'] | GTTTAGATTTCCTTGTTAAAAATCTGCTGGCCAGGTTAGGTTCCCTTTCTGTAGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAATTCAG... | GTTTAGATTTCCTTGTTAAAAATCTGCTGGCCAGGTTAGGTTCCCTTTCTGTAGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAATTCAG... | pathogenic | 100,025 |
Benign or pathogenic: chromosome 5, position 132370042, gene SLC22A5 (solute carrier family 22 member 5) variant? Disease(s) if pathogenic? | pathogenic; ['Renal_carnitine_transport_defect'] | TCCTTGTTAAAAATCTGCTGGCCAGGTTAGGTTCCCTTTCTGTAGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAATTCAGCATTTTGGG... | TCCTTGTTAAAAATCTGCTGGCCAGGTTAGGTTCCCTTTCTGTAGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAATTCAGCATTTTGGG... | pathogenic | 100,026 |
Classify the chromosome 5 variant at position 132370119 affecting gene SLC22A5 (solute carrier family 22 member 5) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Renal_carnitine_transport_defect'] | AAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAATTCAGCATTTTGGGAGGCTGAGGTGGGAGGATTGCTTAAACCCAGGAGTCTGAGACCAGCCTGGGCAACACAGGGATGCCTTGTCTCTGTA... | AAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAATTCAGCATTTTGGGAGGCTGAGGTGGGAGGATTGCTTAAACCCAGGAGTCTGAGACCAGCCTGGGCAACACAGGGATGCCTTGTCTCTGTA... | pathogenic | 100,032 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 132370127, gene SLC22A5 (solute carrier family 22 member 5): what disease(s) if pathogenic? | pathogenic; ['Renal_carnitine_transport_defect'] | TTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAATTCAGCATTTTGGGAGGCTGAGGTGGGAGGATTGCTTAAACCCAGGAGTCTGAGACCAGCCTGGGCAACACAGGGATGCCTTGTCTCTGTAAAATAAAA... | TTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAATTCAGCATTTTGGGAGGCTGAGGTGGGAGGATTGCTTAAACCCAGGAGTCTGAGACCAGCCTGGGCAACACAGGGATGCCTTGTCTCTGTAAAATAAAA... | pathogenic | 100,033 |
Is chromosome 5, position 132370203, gene SLC22A5 (solute carrier family 22 member 5) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Renal_carnitine_transport_defect'] | GAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAATTCAGCATTTTGGGAGGCTGAGGTGGGAGGATTGCTTAAACCCAGGAGTCTGAGACCAGCCTGGGCAACACAGGGATGCCTTGTCTCTGTAAAATAAAAAAAATAAAAAAATTAGCTGGGCACGGTGGCATGTGCCTGTAGTCCTAGCTACTCAGCAGGCTGAGGCAGGAGGCCC... | GAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAATTCAGCATTTTGGGAGGCTGAGGTGGGAGGATTGCTTAAACCCAGGAGTCTGAGACCAGCCTGGGCAACACAGGGATGCCTTGTCTCTGTAAAATAAAAAAAATAAAAAAATTAGCTGGGCACGGTGGCATGTGCCTGTAGTCCTAGCTACTCAGCAGGCTGAGGCAGGAGGCCC... | pathogenic | 100,035 |
Benign or pathogenic: chromosome 5, position 132370222, gene SLC22A5 (solute carrier family 22 member 5) variant? Disease(s) if pathogenic? | pathogenic; ['Congenital_myasthenic_syndrome_20', 'Decreased_circulating_carnitine_concentration', 'Renal_carnitine_transport_defect'] | GTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAATTCAGCATTTTGGGAGGCTGAGGTGGGAGGATTGCTTAAACCCAGGAGTCTGAGACCAGCCTGGGCAACACAGGGATGCCTTGTCTCTGTAAAATAAAAAAAATAAAAAAATTAGCTGGGCACGGTGGCATGTGCCTGTAGTCCTAGCTACTCAGCAGGCTGAGGCAGGAGGCCCACTTAAGCTTAGGAGTTCA... | GTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAATTCAGCATTTTGGGAGGCTGAGGTGGGAGGATTGCTTAAACCCAGGAGTCTGAGACCAGCCTGGGCAACACAGGGATGCCTTGTCTCTGTAAAATAAAAAAAATAAAAAAATTAGCTGGGCACGGTGGCATGTGCCTGTAGTCCTAGCTACTCAGCAGGCTGAGGCAGGAGGCCCACTTAAGCTTAGGAGTTCA... | pathogenic | 100,038 |
Considering the genetic mutation at chromosome 5, position 132378438, impacting SLC22A5 (solute carrier family 22 member 5): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Renal_carnitine_transport_defect'] | GAGAGGGTGGGGCTAAGGGAGCCTGAGAGATGCTCTGGGGCCTATCTCAAAATGAGCACTATAGTCACCCTGTCCCCTGCAGAGATTGTCTGACCTGGTTTTAGGTCACACCCAACCTTGCCAGCCAAGGAGTCTTTAGAAGCCTGATATTGGGAGACCTGTCCTGGGGTCTACAACCCCAGAACTCACTGCAGAAGCCCACGTGGATTGCTAGTCTAGCTCAGCCATATGGGTCCCCAACCCTCACCTCATGATAGTCCTGTGAGAAACCGCTGCTGACCCTTTGTTCATGTTTTCATCTTTTCCACTATAAAAGACAT... | GAGAGGGTGGGGCTAAGGGAGCCTGAGAGATGCTCTGGGGCCTATCTCAAAATGAGCACTATAGTCACCCTGTCCCCTGCAGAGATTGTCTGACCTGGTTTTAGGTCACACCCAACCTTGCCAGCCAAGGAGTCTTTAGAAGCCTGATATTGGGAGACCTGTCCTGGGGTCTACAACCCCAGAACTCACTGCAGAAGCCCACGTGGATTGCTAGTCTAGCTCAGCCATATGGGTCCCCAACCCTCACCTCATGATAGTCCTGTGAGAAACCGCTGCTGACCCTTTGTTCATGTTTTCATCTTTTCCACTATAAAAGACAT... | pathogenic | 100,055 |
Benign or pathogenic: chromosome 5, position 132384165, gene SLC22A5 (solute carrier family 22 member 5) variant? Disease(s) if pathogenic? | pathogenic; ['Renal_carnitine_transport_defect'] | TCTGGCCTCTACTCATTAGATGCCAGTGAACCCCAAGTGATGGAAAAAAACAACAACAACAGAAAAAAACCTCTTTTATTGAGGAAAAACACCAAACTCTTCCACATAGTTGCAAGACCTTGTGCAATTTGCCTCCTAGCCACCACTGTACTCTTGAATTGCACGCCTGATGCCAACCACACTGGTTCCTCATGTTCACCATGCCCCCTCCAGCCATGGGGGTGTGTGGTCTTCTCAGAGTCTGAAGCATTCCCCACCCACCCCAACCCACCCCCTGTGGCCTTCTTTAACCATGCTGGCTAATTCAGGATCCCTAGTTC... | TCTGGCCTCTACTCATTAGATGCCAGTGAACCCCAAGTGATGGAAAAAAACAACAACAACAGAAAAAAACCTCTTTTATTGAGGAAAAACACCAAACTCTTCCACATAGTTGCAAGACCTTGTGCAATTTGCCTCCTAGCCACCACTGTACTCTTGAATTGCACGCCTGATGCCAACCACACTGGTTCCTCATGTTCACCATGCCCCCTCCAGCCATGGGGGTGTGTGGTCTTCTCAGAGTCTGAAGCATTCCCCACCCACCCCAACCCACCCCCTGTGGCCTTCTTTAACCATGCTGGCTAATTCAGGATCCCTAGTTC... | pathogenic | 100,063 |
Clinical classification of chromosome 5, position 132385344, gene SLC22A5 (solute carrier family 22 member 5): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Renal_carnitine_transport_defect'] | ATTTGATGTCTTTTAGTCTACTTAATCTATGGATTCTCCTTCTATCGCCTTCTATGCCTTACTGATTATCTATGAAGAACCTGAGCTATTCCACCTATAGAATTTCCCAGTCTGGATTTGTTGATTGCACACTGATGATGCAGTTCAGCACATTCCTCTATGCTCTGCATTTCCTCAAAATTGGCAGTTGGATCCAGAGACTTGAGATTCAGGTTCTGATTCAGGTTCAGTCCTTTTGGCCAGACCATAGGAAGCATGCAATTCCTGACTGTCTCTTTATGATGTTAACAGTAATTAGTATATAATGCATAGATCTATTA... | ATTTGATGTCTTTTAGTCTACTTAATCTATGGATTCTCCTTCTATCGCCTTCTATGCCTTACTGATTATCTATGAAGAACCTGAGCTATTCCACCTATAGAATTTCCCAGTCTGGATTTGTTGATTGCACACTGATGATGCAGTTCAGCACATTCCTCTATGCTCTGCATTTCCTCAAAATTGGCAGTTGGATCCAGAGACTTGAGATTCAGGTTCTGATTCAGGTTCAGTCCTTTTGGCCAGACCATAGGAAGCATGCAATTCCTGACTGTCTCTTTATGATGTTAACAGTAATTAGTATATAATGCATAGATCTATTA... | pathogenic | 100,071 |
Evaluate if the mutation on chromosome 5 at position 132385472 in SLC22A5 (solute carrier family 22 member 5) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Renal_carnitine_transport_defect'] | ACACTGATGATGCAGTTCAGCACATTCCTCTATGCTCTGCATTTCCTCAAAATTGGCAGTTGGATCCAGAGACTTGAGATTCAGGTTCTGATTCAGGTTCAGTCCTTTTGGCCAGACCATAGGAAGCATGCAATTCCTGACTGTCTCTTTATGATGTTAACAGTAATTAGTATATAATGCATAGATCTATTAATCCATTGGGGGCTATAAATGGTATTATTCTAATTTTATTACCTTTTCATTTAAAAGTTAGAATACTTTTGTACATGATACTACCTCTTATCTATTATTGGTTGCTGTTCACATAGTTTACAAAGGAA... | ACACTGATGATGCAGTTCAGCACATTCCTCTATGCTCTGCATTTCCTCAAAATTGGCAGTTGGATCCAGAGACTTGAGATTCAGGTTCTGATTCAGGTTCAGTCCTTTTGGCCAGACCATAGGAAGCATGCAATTCCTGACTGTCTCTTTATGATGTTAACAGTAATTAGTATATAATGCATAGATCTATTAATCCATTGGGGGCTATAAATGGTATTATTCTAATTTTATTACCTTTTCATTTAAAAGTTAGAATACTTTTGTACATGATACTACCTCTTATCTATTATTGGTTGCTGTTCACATAGTTTACAAAGGAA... | pathogenic | 100,081 |
Gene SLC22A5 (solute carrier family 22 member 5) variant at chromosome 5, position 132385480—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Renal_carnitine_transport_defect'] | GATGCAGTTCAGCACATTCCTCTATGCTCTGCATTTCCTCAAAATTGGCAGTTGGATCCAGAGACTTGAGATTCAGGTTCTGATTCAGGTTCAGTCCTTTTGGCCAGACCATAGGAAGCATGCAATTCCTGACTGTCTCTTTATGATGTTAACAGTAATTAGTATATAATGCATAGATCTATTAATCCATTGGGGGCTATAAATGGTATTATTCTAATTTTATTACCTTTTCATTTAAAAGTTAGAATACTTTTGTACATGATACTACCTCTTATCTATTATTGGTTGCTGTTCACATAGTTTACAAAGGAAAATCAGGA... | GATGCAGTTCAGCACATTCCTCTATGCTCTGCATTTCCTCAAAATTGGCAGTTGGATCCAGAGACTTGAGATTCAGGTTCTGATTCAGGTTCAGTCCTTTTGGCCAGACCATAGGAAGCATGCAATTCCTGACTGTCTCTTTATGATGTTAACAGTAATTAGTATATAATGCATAGATCTATTAATCCATTGGGGGCTATAAATGGTATTATTCTAATTTTATTACCTTTTCATTTAAAAGTTAGAATACTTTTGTACATGATACTACCTCTTATCTATTATTGGTTGCTGTTCACATAGTTTACAAAGGAAAATCAGGA... | pathogenic | 100,083 |
Variant at chromosome position 132387038, chromosome 5, gene SLC22A5 (solute carrier family 22 member 5): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Renal_carnitine_transport_defect'] | CAGCATGTGCTGACTTAGTAATGACTTCACTTTTAATAAATTCTTCCTCATGTGAGGATTAAAGGGGGCCTACCATGGCATCTTTAGCACATGGCTTCAGAACATGGCGAAATTTTCAAGAGAGAACTGTTGCTTGGGGGCCTGAGAGGCCACAGGGATGTACCCCCAGGAGACAGTCAGACAGGAGGGGTTCAGAACGCCATCCGCTCCCTAGCGCCATGAACTTAGAGAGAGTTCTCGCTGTTTTCTTGTCTGTGTATTCACAAAGATACCATAAAAAATTAATAAGGAAGGAACCCAAATTAAACTGCTAACTCGAC... | CAGCATGTGCTGACTTAGTAATGACTTCACTTTTAATAAATTCTTCCTCATGTGAGGATTAAAGGGGGCCTACCATGGCATCTTTAGCACATGGCTTCAGAACATGGCGAAATTTTCAAGAGAGAACTGTTGCTTGGGGGCCTGAGAGGCCACAGGGATGTACCCCCAGGAGACAGTCAGACAGGAGGGGTTCAGAACGCCATCCGCTCCCTAGCGCCATGAACTTAGAGAGAGTTCTCGCTGTTTTCTTGTCTGTGTATTCACAAAGATACCATAAAAAATTAATAAGGAAGGAACCCAAATTAAACTGCTAACTCGAC... | pathogenic | 100,089 |
Is the genetic change at chromosome 5, position 132387038, within gene SLC22A5 (solute carrier family 22 member 5) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Renal_carnitine_transport_defect'] | CAGCATGTGCTGACTTAGTAATGACTTCACTTTTAATAAATTCTTCCTCATGTGAGGATTAAAGGGGGCCTACCATGGCATCTTTAGCACATGGCTTCAGAACATGGCGAAATTTTCAAGAGAGAACTGTTGCTTGGGGGCCTGAGAGGCCACAGGGATGTACCCCCAGGAGACAGTCAGACAGGAGGGGTTCAGAACGCCATCCGCTCCCTAGCGCCATGAACTTAGAGAGAGTTCTCGCTGTTTTCTTGTCTGTGTATTCACAAAGATACCATAAAAAATTAATAAGGAAGGAACCCAAATTAAACTGCTAACTCGAC... | CAGCATGTGCTGACTTAGTAATGACTTCACTTTTAATAAATTCTTCCTCATGTGAGGATTAAAGGGGGCCTACCATGGCATCTTTAGCACATGGCTTCAGAACATGGCGAAATTTTCAAGAGAGAACTGTTGCTTGGGGGCCTGAGAGGCCACAGGGATGTACCCCCAGGAGACAGTCAGACAGGAGGGGTTCAGAACGCCATCCGCTCCCTAGCGCCATGAACTTAGAGAGAGTTCTCGCTGTTTTCTTGTCTGTGTATTCACAAAGATACCATAAAAAATTAATAAGGAAGGAACCCAAATTAAACTGCTAACTCGAC... | pathogenic | 100,090 |
Gene mutation in SLC22A5 (solute carrier family 22 member 5) at chromosome 5, position 132387044—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Renal_carnitine_transport_defect'] | GTGCTGACTTAGTAATGACTTCACTTTTAATAAATTCTTCCTCATGTGAGGATTAAAGGGGGCCTACCATGGCATCTTTAGCACATGGCTTCAGAACATGGCGAAATTTTCAAGAGAGAACTGTTGCTTGGGGGCCTGAGAGGCCACAGGGATGTACCCCCAGGAGACAGTCAGACAGGAGGGGTTCAGAACGCCATCCGCTCCCTAGCGCCATGAACTTAGAGAGAGTTCTCGCTGTTTTCTTGTCTGTGTATTCACAAAGATACCATAAAAAATTAATAAGGAAGGAACCCAAATTAAACTGCTAACTCGACCTCCCT... | GTGCTGACTTAGTAATGACTTCACTTTTAATAAATTCTTCCTCATGTGAGGATTAAAGGGGGCCTACCATGGCATCTTTAGCACATGGCTTCAGAACATGGCGAAATTTTCAAGAGAGAACTGTTGCTTGGGGGCCTGAGAGGCCACAGGGATGTACCCCCAGGAGACAGTCAGACAGGAGGGGTTCAGAACGCCATCCGCTCCCTAGCGCCATGAACTTAGAGAGAGTTCTCGCTGTTTTCTTGTCTGTGTATTCACAAAGATACCATAAAAAATTAATAAGGAAGGAACCCAAATTAAACTGCTAACTCGACCTCCCT... | pathogenic | 100,092 |
Does the chromosome 5 mutation at position 132388914 within gene SLC22A5 (solute carrier family 22 member 5) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Renal_carnitine_transport_defect'] | CTGCGTGTGGATCAGCTCTTTGCTTCTGGCTTGTGATCACCAAACATTCCACAAGCTCTGGTTCTGCAACCTTATTCCCACCTATGGCTGTGCTCTACCTGGTCTGTGGGTCTGCTGTTGGCAGGGAGGCCTCACTGAGATTGGACCTTGTACTGCCAGGTTCATCCCTGAGTCCCCCCGATGGCTCATCTCTCAGGGACGATTTGAAGAGGCAGAGGTGATCATCCGCAAGGCTGCCAAAGCCAATGGGATTGTTGTGCCTTCCACTATCTTTGACCCGAGTGAGGTAAGCACCATGTGGGTGTGGGTGAGAGGGACAG... | CTGCGTGTGGATCAGCTCTTTGCTTCTGGCTTGTGATCACCAAACATTCCACAAGCTCTGGTTCTGCAACCTTATTCCCACCTATGGCTGTGCTCTACCTGGTCTGTGGGTCTGCTGTTGGCAGGGAGGCCTCACTGAGATTGGACCTTGTACTGCCAGGTTCATCCCTGAGTCCCCCCGATGGCTCATCTCTCAGGGACGATTTGAAGAGGCAGAGGTGATCATCCGCAAGGCTGCCAAAGCCAATGGGATTGTTGTGCCTTCCACTATCTTTGACCCGAGTGAGGTAAGCACCATGTGGGTGTGGGTGAGAGGGACAG... | pathogenic | 100,100 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 5, position 132390718, gene SLC22A5 (solute carrier family 22 member 5). What disease(s) is it linked to if pathogenic? | pathogenic; ['Renal_carnitine_transport_defect'] | CTTCCTGTACCCTTGAGGGACTGGTCACTTACTTTTCCTCATTTTCATTCACTCTGATTTGTTACTGACAAGGCCTAGGGAAGTTTTCACAGCCTAAAACACAGTCAGTATACTTACTGTTCTTAGAAACGTAACACTCCCCGACGCTGAGATGCAGACAGCTAAGATGCCAGGGATTCAAGTATGTTATTGTGTGCTCTGAGTCTCTGACCACCTCTTCTTCCCATACACTTATGATGTTGTTCCTGCAGTTACAAGACCTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCTGGAATATC... | CTTCCTGTACCCTTGAGGGACTGGTCACTTACTTTTCCTCATTTTCATTCACTCTGATTTGTTACTGACAAGGCCTAGGGAAGTTTTCACAGCCTAAAACACAGTCAGTATACTTACTGTTCTTAGAAACGTAACACTCCCCGACGCTGAGATGCAGACAGCTAAGATGCCAGGGATTCAAGTATGTTATTGTGTGCTCTGAGTCTCTGACCACCTCTTCTTCCCATACACTTATGATGTTGTTCCTGCAGTTACAAGACCTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCTGGAATATC... | pathogenic | 100,107 |
Benign or pathogenic: chromosome 5, position 132390794, gene SLC22A5 (solute carrier family 22 member 5) variant? Disease(s) if pathogenic? | pathogenic; ['Renal_carnitine_transport_defect'] | AGGGAAGTTTTCACAGCCTAAAACACAGTCAGTATACTTACTGTTCTTAGAAACGTAACACTCCCCGACGCTGAGATGCAGACAGCTAAGATGCCAGGGATTCAAGTATGTTATTGTGTGCTCTGAGTCTCTGACCACCTCTTCTTCCCATACACTTATGATGTTGTTCCTGCAGTTACAAGACCTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCTGGAATATCCGGATGGTCACCATCATGTCCATAATGCTGTGGTATGTAAAAGAGACCTGCCTGAGGCTTCCAGACAAAGCTTCTT... | AGGGAAGTTTTCACAGCCTAAAACACAGTCAGTATACTTACTGTTCTTAGAAACGTAACACTCCCCGACGCTGAGATGCAGACAGCTAAGATGCCAGGGATTCAAGTATGTTATTGTGTGCTCTGAGTCTCTGACCACCTCTTCTTCCCATACACTTATGATGTTGTTCCTGCAGTTACAAGACCTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCTGGAATATCCGGATGGTCACCATCATGTCCATAATGCTGTGGTATGTAAAAGAGACCTGCCTGAGGCTTCCAGACAAAGCTTCTT... | pathogenic | 100,109 |
Is the genetic variant on chromosome 5, position 132390809, gene SLC22A5 (solute carrier family 22 member 5), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Renal_carnitine_transport_defect'] | GCCTAAAACACAGTCAGTATACTTACTGTTCTTAGAAACGTAACACTCCCCGACGCTGAGATGCAGACAGCTAAGATGCCAGGGATTCAAGTATGTTATTGTGTGCTCTGAGTCTCTGACCACCTCTTCTTCCCATACACTTATGATGTTGTTCCTGCAGTTACAAGACCTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCTGGAATATCCGGATGGTCACCATCATGTCCATAATGCTGTGGTATGTAAAAGAGACCTGCCTGAGGCTTCCAGACAAAGCTTCTTGAAGTGGCCATTGGG... | GCCTAAAACACAGTCAGTATACTTACTGTTCTTAGAAACGTAACACTCCCCGACGCTGAGATGCAGACAGCTAAGATGCCAGGGATTCAAGTATGTTATTGTGTGCTCTGAGTCTCTGACCACCTCTTCTTCCCATACACTTATGATGTTGTTCCTGCAGTTACAAGACCTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCTGGAATATCCGGATGGTCACCATCATGTCCATAATGCTGTGGTATGTAAAAGAGACCTGCCTGAGGCTTCCAGACAAAGCTTCTTGAAGTGGCCATTGGG... | pathogenic | 100,112 |
Does the variant impacting SLC22A5 (solute carrier family 22 member 5) on chromosome 5, position 132390838, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Decreased_circulating_carnitine_concentration', 'Renal_carnitine_transport_defect'] | TCTTAGAAACGTAACACTCCCCGACGCTGAGATGCAGACAGCTAAGATGCCAGGGATTCAAGTATGTTATTGTGTGCTCTGAGTCTCTGACCACCTCTTCTTCCCATACACTTATGATGTTGTTCCTGCAGTTACAAGACCTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCTGGAATATCCGGATGGTCACCATCATGTCCATAATGCTGTGGTATGTAAAAGAGACCTGCCTGAGGCTTCCAGACAAAGCTTCTTGAAGTGGCCATTGGGCCTCTTGTTTACAGACATGCCTCAGACAA... | TCTTAGAAACGTAACACTCCCCGACGCTGAGATGCAGACAGCTAAGATGCCAGGGATTCAAGTATGTTATTGTGTGCTCTGAGTCTCTGACCACCTCTTCTTCCCATACACTTATGATGTTGTTCCTGCAGTTACAAGACCTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCTGGAATATCCGGATGGTCACCATCATGTCCATAATGCTGTGGTATGTAAAAGAGACCTGCCTGAGGCTTCCAGACAAAGCTTCTTGAAGTGGCCATTGGGCCTCTTGTTTACAGACATGCCTCAGACAA... | pathogenic | 100,117 |
The mutation impacting SLC22A5 (solute carrier family 22 member 5) on chromosome 5 at position 132390875: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Renal_carnitine_transport_defect'] | ACAGCTAAGATGCCAGGGATTCAAGTATGTTATTGTGTGCTCTGAGTCTCTGACCACCTCTTCTTCCCATACACTTATGATGTTGTTCCTGCAGTTACAAGACCTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCTGGAATATCCGGATGGTCACCATCATGTCCATAATGCTGTGGTATGTAAAAGAGACCTGCCTGAGGCTTCCAGACAAAGCTTCTTGAAGTGGCCATTGGGCCTCTTGTTTACAGACATGCCTCAGACAAAATTCAAAGCCTATGTCATCAGAGAGTGAAAAGGATA... | ACAGCTAAGATGCCAGGGATTCAAGTATGTTATTGTGTGCTCTGAGTCTCTGACCACCTCTTCTTCCCATACACTTATGATGTTGTTCCTGCAGTTACAAGACCTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCTGGAATATCCGGATGGTCACCATCATGTCCATAATGCTGTGGTATGTAAAAGAGACCTGCCTGAGGCTTCCAGACAAAGCTTCTTGAAGTGGCCATTGGGCCTCTTGTTTACAGACATGCCTCAGACAAAATTCAAAGCCTATGTCATCAGAGAGTGAAAAGGATA... | pathogenic | 100,118 |
Variant on chromosome 5, at position 132390886, affecting SLC22A5 (solute carrier family 22 member 5): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Renal_carnitine_transport_defect'] | GCCAGGGATTCAAGTATGTTATTGTGTGCTCTGAGTCTCTGACCACCTCTTCTTCCCATACACTTATGATGTTGTTCCTGCAGTTACAAGACCTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCTGGAATATCCGGATGGTCACCATCATGTCCATAATGCTGTGGTATGTAAAAGAGACCTGCCTGAGGCTTCCAGACAAAGCTTCTTGAAGTGGCCATTGGGCCTCTTGTTTACAGACATGCCTCAGACAAAATTCAAAGCCTATGTCATCAGAGAGTGAAAAGGATATGTCTTGTGTT... | GCCAGGGATTCAAGTATGTTATTGTGTGCTCTGAGTCTCTGACCACCTCTTCTTCCCATACACTTATGATGTTGTTCCTGCAGTTACAAGACCTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCTGGAATATCCGGATGGTCACCATCATGTCCATAATGCTGTGGTATGTAAAAGAGACCTGCCTGAGGCTTCCAGACAAAGCTTCTTGAAGTGGCCATTGGGCCTCTTGTTTACAGACATGCCTCAGACAAAATTCAAAGCCTATGTCATCAGAGAGTGAAAAGGATATGTCTTGTGTT... | pathogenic | 100,119 |
Located at chromosome 5 position 132392466, the variant affecting gene SLC22A5 (solute carrier family 22 member 5)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Renal_carnitine_transport_defect'] | TATCTGAATTATACAAGCTTTTTTGCTGGGACACTGTCTATATGGAAGGCTCTGAGAGCGCACTGGCGCAGGGTTTACACTGTACCACTTGGGCTGGGGAAAATTATCTTTTGATCTATGAAGTAAGACGCAGGGTTACAGTTACTGCTGCCTTACTAGTCTCTGCTTAAAGATGGTTTGGAATTTACTGAAATAATTGCATTGTAAAAGTTGTACAGGTTGGGAAAGATGTGGATACTGCTTTTCCAGCTTTCTTCTGCACTCTGTTTCAGGATGACCATATCAGTGGGCTATTTTGGGCTTTCGCTTGATACTCCTAA... | TATCTGAATTATACAAGCTTTTTTGCTGGGACACTGTCTATATGGAAGGCTCTGAGAGCGCACTGGCGCAGGGTTTACACTGTACCACTTGGGCTGGGGAAAATTATCTTTTGATCTATGAAGTAAGACGCAGGGTTACAGTTACTGCTGCCTTACTAGTCTCTGCTTAAAGATGGTTTGGAATTTACTGAAATAATTGCATTGTAAAAGTTGTACAGGTTGGGAAAGATGTGGATACTGCTTTTCCAGCTTTCTTCTGCACTCTGTTTCAGGATGACCATATCAGTGGGCTATTTTGGGCTTTCGCTTGATACTCCTAA... | pathogenic | 100,126 |
Mutation found at chromosome 5 position 132392489, gene SLC22A5 (solute carrier family 22 member 5): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Renal_carnitine_transport_defect'] | TGCTGGGACACTGTCTATATGGAAGGCTCTGAGAGCGCACTGGCGCAGGGTTTACACTGTACCACTTGGGCTGGGGAAAATTATCTTTTGATCTATGAAGTAAGACGCAGGGTTACAGTTACTGCTGCCTTACTAGTCTCTGCTTAAAGATGGTTTGGAATTTACTGAAATAATTGCATTGTAAAAGTTGTACAGGTTGGGAAAGATGTGGATACTGCTTTTCCAGCTTTCTTCTGCACTCTGTTTCAGGATGACCATATCAGTGGGCTATTTTGGGCTTTCGCTTGATACTCCTAACTTGCATGGGGACATCTTTGTGA... | TGCTGGGACACTGTCTATATGGAAGGCTCTGAGAGCGCACTGGCGCAGGGTTTACACTGTACCACTTGGGCTGGGGAAAATTATCTTTTGATCTATGAAGTAAGACGCAGGGTTACAGTTACTGCTGCCTTACTAGTCTCTGCTTAAAGATGGTTTGGAATTTACTGAAATAATTGCATTGTAAAAGTTGTACAGGTTGGGAAAGATGTGGATACTGCTTTTCCAGCTTTCTTCTGCACTCTGTTTCAGGATGACCATATCAGTGGGCTATTTTGGGCTTTCGCTTGATACTCCTAACTTGCATGGGGACATCTTTGTGA... | pathogenic | 100,128 |
Determine whether the variant at chromosome 5, position 132392511, in gene SLC22A5 (solute carrier family 22 member 5) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Renal_carnitine_transport_defect'] | AAGGCTCTGAGAGCGCACTGGCGCAGGGTTTACACTGTACCACTTGGGCTGGGGAAAATTATCTTTTGATCTATGAAGTAAGACGCAGGGTTACAGTTACTGCTGCCTTACTAGTCTCTGCTTAAAGATGGTTTGGAATTTACTGAAATAATTGCATTGTAAAAGTTGTACAGGTTGGGAAAGATGTGGATACTGCTTTTCCAGCTTTCTTCTGCACTCTGTTTCAGGATGACCATATCAGTGGGCTATTTTGGGCTTTCGCTTGATACTCCTAACTTGCATGGGGACATCTTTGTGAACTGCTTCCTTTCAGCGATGGT... | AAGGCTCTGAGAGCGCACTGGCGCAGGGTTTACACTGTACCACTTGGGCTGGGGAAAATTATCTTTTGATCTATGAAGTAAGACGCAGGGTTACAGTTACTGCTGCCTTACTAGTCTCTGCTTAAAGATGGTTTGGAATTTACTGAAATAATTGCATTGTAAAAGTTGTACAGGTTGGGAAAGATGTGGATACTGCTTTTCCAGCTTTCTTCTGCACTCTGTTTCAGGATGACCATATCAGTGGGCTATTTTGGGCTTTCGCTTGATACTCCTAACTTGCATGGGGACATCTTTGTGAACTGCTTCCTTTCAGCGATGGT... | pathogenic | 100,132 |
Is the genetic change at chromosome 5, position 132392514, within gene SLC22A5 (solute carrier family 22 member 5) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Renal_carnitine_transport_defect'] | GCTCTGAGAGCGCACTGGCGCAGGGTTTACACTGTACCACTTGGGCTGGGGAAAATTATCTTTTGATCTATGAAGTAAGACGCAGGGTTACAGTTACTGCTGCCTTACTAGTCTCTGCTTAAAGATGGTTTGGAATTTACTGAAATAATTGCATTGTAAAAGTTGTACAGGTTGGGAAAGATGTGGATACTGCTTTTCCAGCTTTCTTCTGCACTCTGTTTCAGGATGACCATATCAGTGGGCTATTTTGGGCTTTCGCTTGATACTCCTAACTTGCATGGGGACATCTTTGTGAACTGCTTCCTTTCAGCGATGGTTGA... | GCTCTGAGAGCGCACTGGCGCAGGGTTTACACTGTACCACTTGGGCTGGGGAAAATTATCTTTTGATCTATGAAGTAAGACGCAGGGTTACAGTTACTGCTGCCTTACTAGTCTCTGCTTAAAGATGGTTTGGAATTTACTGAAATAATTGCATTGTAAAAGTTGTACAGGTTGGGAAAGATGTGGATACTGCTTTTCCAGCTTTCTTCTGCACTCTGTTTCAGGATGACCATATCAGTGGGCTATTTTGGGCTTTCGCTTGATACTCCTAACTTGCATGGGGACATCTTTGTGAACTGCTTCCTTTCAGCGATGGTTGA... | pathogenic | 100,133 |
Assess the variant on chromosome 5, position 132393778, impacting SLC22A5 (solute carrier family 22 member 5): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Renal_carnitine_transport_defect'] | ATAGAACAGTTCATGGGCCCTCATCTCTCCCTCTCCATCACTGTGCCCAGAGACTTCAGTGTACCTGTAGATTTGGGAGCCTCTGATGGTCACTTTTGGGCCCATCAGGCTGAGAACACTGCACGGGAACAGCTCCCCATGGGATGTGGCAGGAGGAGCCCAGAACTGATGTAGAGGCTCACAGCTGAGCTCAGAGTGACCTTCAGGTCACACATAGCTCTCCCATCAGCACAGCACAGAGAGATTAGAAGATCAACTTGAGATTCTGATGGCCTATGATTTTTTTGAGGTCTGAGTGGGAGGAAAGCATGAAATGAGTT... | ATAGAACAGTTCATGGGCCCTCATCTCTCCCTCTCCATCACTGTGCCCAGAGACTTCAGTGTACCTGTAGATTTGGGAGCCTCTGATGGTCACTTTTGGGCCCATCAGGCTGAGAACACTGCACGGGAACAGCTCCCCATGGGATGTGGCAGGAGGAGCCCAGAACTGATGTAGAGGCTCACAGCTGAGCTCAGAGTGACCTTCAGGTCACACATAGCTCTCCCATCAGCACAGCACAGAGAGATTAGAAGATCAACTTGAGATTCTGATGGCCTATGATTTTTTTGAGGTCTGAGTGGGAGGAAAGCATGAAATGAGTT... | pathogenic | 100,152 |
Is the genetic change at chromosome 5, position 132393780, within gene SLC22A5 (solute carrier family 22 member 5) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Renal_carnitine_transport_defect', 'SLC22A5-related_disorder'] | AGAACAGTTCATGGGCCCTCATCTCTCCCTCTCCATCACTGTGCCCAGAGACTTCAGTGTACCTGTAGATTTGGGAGCCTCTGATGGTCACTTTTGGGCCCATCAGGCTGAGAACACTGCACGGGAACAGCTCCCCATGGGATGTGGCAGGAGGAGCCCAGAACTGATGTAGAGGCTCACAGCTGAGCTCAGAGTGACCTTCAGGTCACACATAGCTCTCCCATCAGCACAGCACAGAGAGATTAGAAGATCAACTTGAGATTCTGATGGCCTATGATTTTTTTGAGGTCTGAGTGGGAGGAAAGCATGAAATGAGTTAG... | AGAACAGTTCATGGGCCCTCATCTCTCCCTCTCCATCACTGTGCCCAGAGACTTCAGTGTACCTGTAGATTTGGGAGCCTCTGATGGTCACTTTTGGGCCCATCAGGCTGAGAACACTGCACGGGAACAGCTCCCCATGGGATGTGGCAGGAGGAGCCCAGAACTGATGTAGAGGCTCACAGCTGAGCTCAGAGTGACCTTCAGGTCACACATAGCTCTCCCATCAGCACAGCACAGAGAGATTAGAAGATCAACTTGAGATTCTGATGGCCTATGATTTTTTTGAGGTCTGAGTGGGAGGAAAGCATGAAATGAGTTAG... | pathogenic | 100,153 |
Is the genetic change at chromosome 5, position 132394360, within gene SLC22A5 (solute carrier family 22 member 5) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TAGGAAGTGATAGAAACTGACTCCCCAAAAAATTTGGGAAGAAAGTATGTTTGTTTTGCTCTCAATAGCTGCATGCCATGGGTTGGTACCTACTCCTACCCTCTTTCCTTTGCTTCTCCAGACTTGTATTATTTGGCTACAGTCCTGGTGATGGTGGGCAAGTTTGGAGTCACGGCTGCCTTTTCCATGGTCTACGTGTACACAGCCGAGCTGTATCCCACAGTGGTGAGAAACATGGGTGTGGGAGTCAGCTCCACAGCATCCCGCCTGGGCAGCATCCTGTCTCCCTACTTCGTTTACCTTGGTAAGTCCCATGAGCC... | TAGGAAGTGATAGAAACTGACTCCCCAAAAAATTTGGGAAGAAAGTATGTTTGTTTTGCTCTCAATAGCTGCATGCCATGGGTTGGTACCTACTCCTACCCTCTTTCCTTTGCTTCTCCAGACTTGTATTATTTGGCTACAGTCCTGGTGATGGTGGGCAAGTTTGGAGTCACGGCTGCCTTTTCCATGGTCTACGTGTACACAGCCGAGCTGTATCCCACAGTGGTGAGAAACATGGGTGTGGGAGTCAGCTCCACAGCATCCCGCCTGGGCAGCATCCTGTCTCCCTACTTCGTTTACCTTGGTAAGTCCCATGAGCC... | benign | 100,161 |
Variant in RAD50 (RAD50 double strand break repair protein), chromosome 5, position 132557394—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TAGAGACAGTAAGTAGAATGTTGGTTGTCAGGGTTTGGAGGATGTGGGGAGGAAAGGGTTATTGTTTAATGGGTAGTTTGTTTTGCAAAGTGAAAAGATTTGTAGAGGTTGAAAGGTGGTGACGGTTGTACGTGAGTATACTTAACACCACTGAAATGTACACTTGGTTAAGATAGTAAATTCTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGGTCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATACTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCATCGGCGCCTG... | TAGAGACAGTAAGTAGAATGTTGGTTGTCAGGGTTTGGAGGATGTGGGGAGGAAAGGGTTATTGTTTAATGGGTAGTTTGTTTTGCAAAGTGAAAAGATTTGTAGAGGTTGAAAGGTGGTGACGGTTGTACGTGAGTATACTTAACACCACTGAAATGTACACTTGGTTAAGATAGTAAATTCTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGGTCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATACTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCATCGGCGCCTG... | pathogenic | 100,173 |
Clinical impact (benign or pathogenic) of the variant at chromosome 5, location 132557452, gene RAD50 (RAD50 double strand break repair protein): what disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TTATTGTTTAATGGGTAGTTTGTTTTGCAAAGTGAAAAGATTTGTAGAGGTTGAAAGGTGGTGACGGTTGTACGTGAGTATACTTAACACCACTGAAATGTACACTTGGTTAAGATAGTAAATTCTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGGTCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATACTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCATCGGCGCCTGCCACCATGCCCGGCTAATTTTTTGTGTTTTCAGTAGAGACGGGGTTTCACCGTGTTAG... | TTATTGTTTAATGGGTAGTTTGTTTTGCAAAGTGAAAAGATTTGTAGAGGTTGAAAGGTGGTGACGGTTGTACGTGAGTATACTTAACACCACTGAAATGTACACTTGGTTAAGATAGTAAATTCTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGGTCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATACTCCTGCCTCAGCCTCCTGAGTAGCTGGGACCATCGGCGCCTGCCACCATGCCCGGCTAATTTTTTGTGTTTTCAGTAGAGACGGGGTTTCACCGTGTTAG... | pathogenic | 100,185 |
Variant at chromosome position 132559307, chromosome 5, gene RAD50 (RAD50 double strand break repair protein): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGCTTCGGCCTCAGTTAAGCCTTTGTGGGCTCCAGGTCCCTGGTGAGATTAGAAACGTTTGCAAACATGTCCCGGATCGAAAAGATGAGCATTCTGGGCGTGCGGAGTTTTGGAATAGAGGACAAAGATAAGCAAATTATCACTTTCTTCAGCCCCCTTACAATTTTGGTTGGACCCAATGGGGCGGGAAAGACGGTAAGTCTTCAGTAGCCGCCTTCAGTTTACAGGTCGCTACATCTTTCGGAGAATAAAATGGGAAGTTGAGAACTCTCCTTAGGAGCAGAAGCGTCCCTAGGGCTCCACAGGTGTAGGCCCTTAAA... | TGCTTCGGCCTCAGTTAAGCCTTTGTGGGCTCCAGGTCCCTGGTGAGATTAGAAACGTTTGCAAACATGTCCCGGATCGAAAAGATGAGCATTCTGGGCGTGCGGAGTTTTGGAATAGAGGACAAAGATAAGCAAATTATCACTTTCTTCAGCCCCCTTACAATTTTGGTTGGACCCAATGGGGCGGGAAAGACGGTAAGTCTTCAGTAGCCGCCTTCAGTTTACAGGTCGCTACATCTTTCGGAGAATAAAATGGGAAGTTGAGAACTCTCCTTAGGAGCAGAAGCGTCCCTAGGGCTCCACAGGTGTAGGCCCTTAAA... | pathogenic | 100,198 |
Variant at chromosome 5, position 132559346, gene RAD50 (RAD50 double strand break repair protein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | CTGGTGAGATTAGAAACGTTTGCAAACATGTCCCGGATCGAAAAGATGAGCATTCTGGGCGTGCGGAGTTTTGGAATAGAGGACAAAGATAAGCAAATTATCACTTTCTTCAGCCCCCTTACAATTTTGGTTGGACCCAATGGGGCGGGAAAGACGGTAAGTCTTCAGTAGCCGCCTTCAGTTTACAGGTCGCTACATCTTTCGGAGAATAAAATGGGAAGTTGAGAACTCTCCTTAGGAGCAGAAGCGTCCCTAGGGCTCCACAGGTGTAGGCCCTTAAAGTGCCTTAGGGTGTGGCCTGCAGGCTACAGCGACCTTAG... | CTGGTGAGATTAGAAACGTTTGCAAACATGTCCCGGATCGAAAAGATGAGCATTCTGGGCGTGCGGAGTTTTGGAATAGAGGACAAAGATAAGCAAATTATCACTTTCTTCAGCCCCCTTACAATTTTGGTTGGACCCAATGGGGCGGGAAAGACGGTAAGTCTTCAGTAGCCGCCTTCAGTTTACAGGTCGCTACATCTTTCGGAGAATAAAATGGGAAGTTGAGAACTCTCCTTAGGAGCAGAAGCGTCCCTAGGGCTCCACAGGTGTAGGCCCTTAAAGTGCCTTAGGGTGTGGCCTGCAGGCTACAGCGACCTTAG... | pathogenic | 100,203 |
Determine whether the variant at chromosome 5, position 132575844, in gene RAD50 (RAD50 double strand break repair protein) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | AGGGGCTACAGGCCCCGTGCAAGTCCGAAATTCAGTGGGGCAGGTGTATCTTAAAGCTCCAGAATGATCTCCTTTGACTCCATGTCTCACATCCAGGTCACTCTGATGCAAGAGGTGGGCTTCCATGGCCTTGGGCAGCTCCACTTCTGGCTTTGCAGGGTATAGCCTCCTTCCTGGCTGTTTTCACAGGCTGGTGTTGAGTGCCTGCAGTTTTTCCAGGTGCACAGTGCAAGCTGTCAGTGGATCTATTATTCTGGGGGATCTACCAGTCTGGAGGACAGTGGCTGTCTTCTCACAGCTCCACTAGGCAGTCCCCTCCA... | AGGGGCTACAGGCCCCGTGCAAGTCCGAAATTCAGTGGGGCAGGTGTATCTTAAAGCTCCAGAATGATCTCCTTTGACTCCATGTCTCACATCCAGGTCACTCTGATGCAAGAGGTGGGCTTCCATGGCCTTGGGCAGCTCCACTTCTGGCTTTGCAGGGTATAGCCTCCTTCCTGGCTGTTTTCACAGGCTGGTGTTGAGTGCCTGCAGTTTTTCCAGGTGCACAGTGCAAGCTGTCAGTGGATCTATTATTCTGGGGGATCTACCAGTCTGGAGGACAGTGGCTGTCTTCTCACAGCTCCACTAGGCAGTCCCCTCCA... | pathogenic | 100,219 |
Regarding the variant found on chromosome 5 at position 132575915 in gene RAD50 (RAD50 double strand break repair protein): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CTTTGACTCCATGTCTCACATCCAGGTCACTCTGATGCAAGAGGTGGGCTTCCATGGCCTTGGGCAGCTCCACTTCTGGCTTTGCAGGGTATAGCCTCCTTCCTGGCTGTTTTCACAGGCTGGTGTTGAGTGCCTGCAGTTTTTCCAGGTGCACAGTGCAAGCTGTCAGTGGATCTATTATTCTGGGGGATCTACCAGTCTGGAGGACAGTGGCTGTCTTCTCACAGCTCCACTAGGCAGTCCCCTCCATAGGAACTCTGTGGGGTTTCAACCCCACATTTCCCTTCCATATTGCCCTAGCAGAGGTTTTCCATAAGGGC... | CTTTGACTCCATGTCTCACATCCAGGTCACTCTGATGCAAGAGGTGGGCTTCCATGGCCTTGGGCAGCTCCACTTCTGGCTTTGCAGGGTATAGCCTCCTTCCTGGCTGTTTTCACAGGCTGGTGTTGAGTGCCTGCAGTTTTTCCAGGTGCACAGTGCAAGCTGTCAGTGGATCTATTATTCTGGGGGATCTACCAGTCTGGAGGACAGTGGCTGTCTTCTCACAGCTCCACTAGGCAGTCCCCTCCATAGGAACTCTGTGGGGTTTCAACCCCACATTTCCCTTCCATATTGCCCTAGCAGAGGTTTTCCATAAGGGC... | pathogenic | 100,226 |
Variant on chromosome 5, at position 132579343, affecting RAD50 (RAD50 double strand break repair protein): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Nijmegen_breakage_syndrome-like_disorder'] | TCACATTAAAGGACCCATGTGATTACATTTGCCCCATCCAAATAATCCAGGATAGTCTATTTTAAGGTCAAATGATTAACACCCTAATTCCATCTGTAATCTTAATTCTCTTTTGCTGTGCAATGTAACATTCACAAATTCAAGGGATTAAAATGTGGACATCTTGGAGGACCATTGTTCCATGTACCATAGCTAAGTAAATGCTAGTTTATTACTTTTTATTTGAAAATTTCTTTTTCTAGACCTCCATGATACAATACTGTTCTCTCTTTCTATCACAGCTACATACTACTTCATTCACCCCATCAATAAAGGTTGGA... | TCACATTAAAGGACCCATGTGATTACATTTGCCCCATCCAAATAATCCAGGATAGTCTATTTTAAGGTCAAATGATTAACACCCTAATTCCATCTGTAATCTTAATTCTCTTTTGCTGTGCAATGTAACATTCACAAATTCAAGGGATTAAAATGTGGACATCTTGGAGGACCATTGTTCCATGTACCATAGCTAAGTAAATGCTAGTTTATTACTTTTTATTTGAAAATTTCTTTTTCTAGACCTCCATGATACAATACTGTTCTCTCTTTCTATCACAGCTACATACTACTTCATTCACCCCATCAATAAAGGTTGGA... | pathogenic | 100,234 |
Mutation at chromosome 5, position 132579343, within RAD50 (RAD50 double strand break repair protein): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TCACATTAAAGGACCCATGTGATTACATTTGCCCCATCCAAATAATCCAGGATAGTCTATTTTAAGGTCAAATGATTAACACCCTAATTCCATCTGTAATCTTAATTCTCTTTTGCTGTGCAATGTAACATTCACAAATTCAAGGGATTAAAATGTGGACATCTTGGAGGACCATTGTTCCATGTACCATAGCTAAGTAAATGCTAGTTTATTACTTTTTATTTGAAAATTTCTTTTTCTAGACCTCCATGATACAATACTGTTCTCTCTTTCTATCACAGCTACATACTACTTCATTCACCCCATCAATAAAGGTTGGA... | TCACATTAAAGGACCCATGTGATTACATTTGCCCCATCCAAATAATCCAGGATAGTCTATTTTAAGGTCAAATGATTAACACCCTAATTCCATCTGTAATCTTAATTCTCTTTTGCTGTGCAATGTAACATTCACAAATTCAAGGGATTAAAATGTGGACATCTTGGAGGACCATTGTTCCATGTACCATAGCTAAGTAAATGCTAGTTTATTACTTTTTATTTGAAAATTTCTTTTTCTAGACCTCCATGATACAATACTGTTCTCTCTTTCTATCACAGCTACATACTACTTCATTCACCCCATCAATAAAGGTTGGA... | pathogenic | 100,235 |
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