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 |
|---|---|---|---|---|---|
Does the variant impacting HNF4A (hepatocyte nuclear factor 4 alpha) on chromosome 20, position 44355804, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_1', 'Monogenic_diabetes'] | TGGGAAATTGACATAGGGTTAGCAAACCTCCCCCACCCCCATATAAAAATATTAATACTTTTTTTTTTTCTGAGATGGAGTCTGGCTCTGTCGCCAAGGCTGCAGTGCAGTAGTGCAATCTTGGCTCACTGCAACATTTGCCTCCTAGGTTGAAACGATTCTCCTCCTTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCTCGCTGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGATTACACCGTGTTGGCCAGCCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAACTGC... | TGGGAAATTGACATAGGGTTAGCAAACCTCCCCCACCCCCATATAAAAATATTAATACTTTTTTTTTTTCTGAGATGGAGTCTGGCTCTGTCGCCAAGGCTGCAGTGCAGTAGTGCAATCTTGGCTCACTGCAACATTTGCCTCCTAGGTTGAAACGATTCTCCTCCTTCAGCCTCCCGAGTAGCTGAGATTACAGGTGCTCGCTGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGATTACACCGTGTTGGCCAGCCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTCCCAAACTGC... | pathogenic | 313,657 |
A mutation at chromosome position 44401297 on chromosome 20 in gene HNF4A (hepatocyte nuclear factor 4 alpha): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CTCAGAGTCTTGTCCTGGCTAACAGAAAACTGAGCCAGGATCATCTTTCTATTTTACAGAGGGAGAAATTGAAGCCCTGAGAAGAGACGATGTAAATAAAGTTATCGGAATAGTGACTGAGCTAGTTCCTAACCCCAGGTCTCCTGACATCAAATCTAGCCTCTCTTGTCCTCCACAACAGTTGCTCCCTCTCCCCTTTCCCTACAGGCAATAGCACTCCCCAGTCATCTCAGCTTCAGAGGTCAGATCAAGTGGACAGAATAAAGCTAAGCAGGGCAGAGAAAGGGCTTCTAGCAGTGGAAAGAACATGAAGATGCCTC... | CTCAGAGTCTTGTCCTGGCTAACAGAAAACTGAGCCAGGATCATCTTTCTATTTTACAGAGGGAGAAATTGAAGCCCTGAGAAGAGACGATGTAAATAAAGTTATCGGAATAGTGACTGAGCTAGTTCCTAACCCCAGGTCTCCTGACATCAAATCTAGCCTCTCTTGTCCTCCACAACAGTTGCTCCCTCTCCCCTTTCCCTACAGGCAATAGCACTCCCCAGTCATCTCAGCTTCAGAGGTCAGATCAAGTGGACAGAATAAAGCTAAGCAGGGCAGAGAAAGGGCTTCTAGCAGTGGAAAGAACATGAAGATGCCTC... | benign | 313,663 |
A mutation at chromosome position 44406107 on chromosome 20 in gene HNF4A (hepatocyte nuclear factor 4 alpha): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | GGGAGTCTGCGATGGCAGAAATGAGATGCGGCAGTGTCTGCTTGTGCAAGGAGCCTGGAAGTCCTCTGCTCCGAGAGTTTTCCTATGTGGAAAAGTTTTTATTTCATGAACACTGATATAGTGCTTACTATGTGCCAAGCACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGC... | GGGAGTCTGCGATGGCAGAAATGAGATGCGGCAGTGTCTGCTTGTGCAAGGAGCCTGGAAGTCCTCTGCTCCGAGAGTTTTCCTATGTGGAAAAGTTTTTATTTCATGAACACTGATATAGTGCTTACTATGTGCCAAGCACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGC... | pathogenic | 313,672 |
Clinically, how would you classify the variant at chromosome 20, position 44406158, gene HNF4A (hepatocyte nuclear factor 4 alpha): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Monogenic_diabetes'] | AGCCTGGAAGTCCTCTGCTCCGAGAGTTTTCCTATGTGGAAAAGTTTTTATTTCATGAACACTGATATAGTGCTTACTATGTGCCAAGCACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCC... | AGCCTGGAAGTCCTCTGCTCCGAGAGTTTTCCTATGTGGAAAAGTTTTTATTTCATGAACACTGATATAGTGCTTACTATGTGCCAAGCACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCC... | pathogenic | 313,680 |
The mutation in gene HNF4A (hepatocyte nuclear factor 4 alpha) at chromosome 20, position 44406191—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Monogenic_diabetes'] | ATGTGGAAAAGTTTTTATTTCATGAACACTGATATAGTGCTTACTATGTGCCAAGCACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTA... | ATGTGGAAAAGTTTTTATTTCATGAACACTGATATAGTGCTTACTATGTGCCAAGCACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTA... | pathogenic | 313,681 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 44406246, gene HNF4A (hepatocyte nuclear factor 4 alpha). What disease(s) is it linked to if pathogenic? | benign | CACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTATGAATACACGTGTGTGTGTGTGTGTCTGTGTATGTGTGTATGTTTGTGCATGTGA... | CACTTCACATACACATATGAGAATTCACCGAATCCCCATAACGAACCTAGGGGAATATCACGTTCCCCATTTTACAAGTGAGGAAACAAAAGCATAGAGAAGTAAACGAACACAGTCAATGTCACACGGCTAAAAAGTGGGCAAGCTGGAATTGAACCCTGGGCAGAAGGACTTCAGAGGCTGTGCTGTTACCTACAGTGCATGGCCCTCTCTGGGTCTTAACTGGATGCCCCTGAGGAATCCAAGGTTGGATTCAGGATTTCTATGAATACACGTGTGTGTGTGTGTGTCTGTGTATGTGTGTATGTTTGTGCATGTGA... | benign | 313,690 |
A genetic alteration at chromosome 20, position 44407411, in gene HNF4A (hepatocyte nuclear factor 4 alpha)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Monogenic_diabetes'] | TGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACA... | TGAAGCAGGGAAAGCGAAGTTGCCCAAGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACA... | pathogenic | 313,697 |
Variant at chromosome 20, position 44407437, gene HNF4A (hepatocyte nuclear factor 4 alpha): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_1', 'Monogenic_diabetes'] | AGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGG... | AGTTTACAGGCGAGTTAGTGGCAGCATCAGCAGTAGTGCCCAGGACTCCTGGCACCCAGCCCAAGATCCTCTTTCCACCTGCCTCTACGGCCCCCCTCACATTTGTGTAGATGCAGTAGCTTTTGCCTGTGGGATGGGAGGGATGGGAGATGTGTCCAGACCCTCCTAGGAGGCCACATGAGTGTGACTGTTCTCGGCCCAAGTCTTTCTCGTTCCTCAGAGAATTTGCGGGGCCCCTGGGCACACAAGCTGAGATCCACCCAGCCCTGGTCCCTTGGCAAGAACTGAGGGACAGGACCTGGTTCTGGGGAAAATGCAGG... | pathogenic | 313,702 |
Evaluate the clinical significance of the mutation at chromosome 20, position 44413792 in gene HNF4A (hepatocyte nuclear factor 4 alpha): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Monogenic_diabetes'] | GGAGAAATAGGGTTCTTATAAGAATTAGAGTTTATGACCAGGTGTGGTGCCTCGCACCTGTAATCCCAGCATTTTGTGAGGCTGAGTGGATCACTTAAAGCCAGGTTTTCGAGACCAGCCTGGGCAACCTAATGAGACCCCGTCTCTCAAAAAAAAAAAAAAATTTAGCCAGGCGTGGTGGCACACGCCTATAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTATGATTGCACCACTGCAGTCCAGCCTGGGCAACAAAATGAGACCCCATCTCGAAAAAA... | GGAGAAATAGGGTTCTTATAAGAATTAGAGTTTATGACCAGGTGTGGTGCCTCGCACCTGTAATCCCAGCATTTTGTGAGGCTGAGTGGATCACTTAAAGCCAGGTTTTCGAGACCAGCCTGGGCAACCTAATGAGACCCCGTCTCTCAAAAAAAAAAAAAAATTTAGCCAGGCGTGGTGGCACACGCCTATAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGCTATGATTGCACCACTGCAGTCCAGCCTGGGCAACAAAATGAGACCCCATCTCGAAAAAA... | pathogenic | 313,728 |
A genetic variant on chromosome 20, position 44414569, affects the gene HNF4A (hepatocyte nuclear factor 4 alpha). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Monogenic_diabetes'] | AGGTGCGATCCGAGAGGAGAGGAAGGGCCCTGGGGACTTGTGAGGTTGGAAGGCACTGGTTTTGAGCAGCAGGCGACATGACTTGAACGGATCCCTCTGTCTCTGAGAGGAACACAGACTGCAGGCGCAAGGCAGAAGCAGAGCCCAGGAGGAGGCTGATCTAATCCAGGAGAGACAGCGGGCCTGGGAGCAGGGAGGGAGCAGCAGGTCTGTTTGTCAGGATCACGACAGCACTGGGGTGTGAGGGGAAGCCAAGGAAGGTGGCCAGGCTTGATGCCAGTCCCTGAGACGAGAAAGAGTGCAGGGAGCCGGCTGGCAGG... | AGGTGCGATCCGAGAGGAGAGGAAGGGCCCTGGGGACTTGTGAGGTTGGAAGGCACTGGTTTTGAGCAGCAGGCGACATGACTTGAACGGATCCCTCTGTCTCTGAGAGGAACACAGACTGCAGGCGCAAGGCAGAAGCAGAGCCCAGGAGGAGGCTGATCTAATCCAGGAGAGACAGCGGGCCTGGGAGCAGGGAGGGAGCAGCAGGTCTGTTTGTCAGGATCACGACAGCACTGGGGTGTGAGGGGAAGCCAAGGAAGGTGGCCAGGCTTGATGCCAGTCCCTGAGACGAGAAAGAGTGCAGGGAGCCGGCTGGCAGG... | pathogenic | 313,741 |
Considering the genetic mutation at chromosome 20, position 44414651, impacting HNF4A (hepatocyte nuclear factor 4 alpha): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_1', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | TTGAACGGATCCCTCTGTCTCTGAGAGGAACACAGACTGCAGGCGCAAGGCAGAAGCAGAGCCCAGGAGGAGGCTGATCTAATCCAGGAGAGACAGCGGGCCTGGGAGCAGGGAGGGAGCAGCAGGTCTGTTTGTCAGGATCACGACAGCACTGGGGTGTGAGGGGAAGCCAAGGAAGGTGGCCAGGCTTGATGCCAGTCCCTGAGACGAGAAAGAGTGCAGGGAGCCGGCTGGCAGGGAAATGCCTACGGGTAGGGAAACTGAGCCCCAGAGAGAGGCTGCGATTGCCACCGGCACACAGAGTGGCAGGTTCCAGACAG... | TTGAACGGATCCCTCTGTCTCTGAGAGGAACACAGACTGCAGGCGCAAGGCAGAAGCAGAGCCCAGGAGGAGGCTGATCTAATCCAGGAGAGACAGCGGGCCTGGGAGCAGGGAGGGAGCAGCAGGTCTGTTTGTCAGGATCACGACAGCACTGGGGTGTGAGGGGAAGCCAAGGAAGGTGGCCAGGCTTGATGCCAGTCCCTGAGACGAGAAAGAGTGCAGGGAGCCGGCTGGCAGGGAAATGCCTACGGGTAGGGAAACTGAGCCCCAGAGAGAGGCTGCGATTGCCACCGGCACACAGAGTGGCAGGTTCCAGACAG... | pathogenic | 313,746 |
Located at chromosome 20 position 44418422, the variant affecting gene HNF4A (hepatocyte nuclear factor 4 alpha)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_1', 'Monogenic_diabetes'] | GGGCTTAGAGAGAGACAGAAATTTGCCTGAAGTCACAGAGCAAGTTAGCGACAGAACTGGGATTCAAATCCAGGTCTTCCGCTTCGCGATGTGAAGGCCACTGGAGTGACTGATGAAAGACTTGCACAGTGCCCAGTGCGCAGGAGGCGCTTGGCAATCAGCATCCTCGGCCTCCCTCCATACTGGTCATGGAAAGTGGATTTTCCCTCCCAGGCAGTTTCCTCTTTTTCTGTTTTCCTCACAGGTTTCTATCCATGGGGAATAGAAGGGGCAAGGACAAGTGGCTGCCCAGGAGCAGCTAGAGCTAGAGAGGAAGTCAA... | GGGCTTAGAGAGAGACAGAAATTTGCCTGAAGTCACAGAGCAAGTTAGCGACAGAACTGGGATTCAAATCCAGGTCTTCCGCTTCGCGATGTGAAGGCCACTGGAGTGACTGATGAAAGACTTGCACAGTGCCCAGTGCGCAGGAGGCGCTTGGCAATCAGCATCCTCGGCCTCCCTCCATACTGGTCATGGAAAGTGGATTTTCCCTCCCAGGCAGTTTCCTCTTTTTCTGTTTTCCTCACAGGTTTCTATCCATGGGGAATAGAAGGGGCAAGGACAAGTGGCTGCCCAGGAGCAGCTAGAGCTAGAGAGGAAGTCAA... | pathogenic | 313,752 |
Mutation at chromosome 20, position 44418502, within HNF4A (hepatocyte nuclear factor 4 alpha): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Maturity-onset_diabetes_of_the_young_type_1', 'Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | GCTTCGCGATGTGAAGGCCACTGGAGTGACTGATGAAAGACTTGCACAGTGCCCAGTGCGCAGGAGGCGCTTGGCAATCAGCATCCTCGGCCTCCCTCCATACTGGTCATGGAAAGTGGATTTTCCCTCCCAGGCAGTTTCCTCTTTTTCTGTTTTCCTCACAGGTTTCTATCCATGGGGAATAGAAGGGGCAAGGACAAGTGGCTGCCCAGGAGCAGCTAGAGCTAGAGAGGAAGTCAAGATGTTTGCTCATTCATTCATTCATTTCCCCTTTCCTTCCTTCATTCAAATATTTATTGAAGGCTTATTTTGTGCCAAAT... | GCTTCGCGATGTGAAGGCCACTGGAGTGACTGATGAAAGACTTGCACAGTGCCCAGTGCGCAGGAGGCGCTTGGCAATCAGCATCCTCGGCCTCCCTCCATACTGGTCATGGAAAGTGGATTTTCCCTCCCAGGCAGTTTCCTCTTTTTCTGTTTTCCTCACAGGTTTCTATCCATGGGGAATAGAAGGGGCAAGGACAAGTGGCTGCCCAGGAGCAGCTAGAGCTAGAGAGGAAGTCAAGATGTTTGCTCATTCATTCATTCATTTCCCCTTTCCTTCCTTCATTCAAATATTTATTGAAGGCTTATTTTGTGCCAAAT... | pathogenic | 313,755 |
Variant chromosome 20, position 44419771, gene HNF4A (hepatocyte nuclear factor 4 alpha): benign or pathogenic? Disease(s)? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | AGCACTTTGGGAGGCTGAGTTGGGCTGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAGTCTCAGCTACTCTGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCGGAAGCTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAATAGAATCTGTATTTTTACAAAGCACCCTTCATAATTCTCCATAGCTGGTCCATGGGT... | AGCACTTTGGGAGGCTGAGTTGGGCTGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGCAATATGGTGAAACCCCGTCTCTACTAAAAATAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAGTCTCAGCTACTCTGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCGGAAGCTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAATAGAATCTGTATTTTTACAAAGCACCCTTCATAATTCTCCATAGCTGGTCCATGGGT... | pathogenic | 313,763 |
Clinical impact (benign or pathogenic) of the variant at chromosome 20, location 44419905, gene HNF4A (hepatocyte nuclear factor 4 alpha): what disease(s) if pathogenic? | benign | TACTCTGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCGGAAGCTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAATAGAATCTGTATTTTTACAAAGCACCCTTCATAATTCTCCATAGCTGGTCCATGGGTGGGAATTTGGGACCCACAGTTTTGGAACTTTTTGGGATCATAGACCTTTTTGAGAATCTCAAAAAAGAAAAAAAAAGCACACAGAATGTTGCTTACAGTTTCATCAGGCACACAGAAGAGGCCCAGCACGAAGC... | TACTCTGGAGGCTGAGGCACGAGAATCACTTGAACCTGGGAGGCGGAAGCTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAATAGAATCTGTATTTTTACAAAGCACCCTTCATAATTCTCCATAGCTGGTCCATGGGTGGGAATTTGGGACCCACAGTTTTGGAACTTTTTGGGATCATAGACCTTTTTGAGAATCTCAAAAAAGAAAAAAAAAGCACACAGAATGTTGCTTACAGTTTCATCAGGCACACAGAAGAGGCCCAGCACGAAGC... | benign | 313,775 |
Clinical classification of chromosome 20, position 44424067, gene HNF4A (hepatocyte nuclear factor 4 alpha): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Monogenic_diabetes'] | TAGGAATTATTATTATCTCCATTTTACAGATAAGGAAACTGAGGCATGATTAACTTGCTCAAGGTCACACAACCGGAAAATGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCT... | TAGGAATTATTATTATCTCCATTTTACAGATAAGGAAACTGAGGCATGATTAACTTGCTCAAGGTCACACAACCGGAAAATGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCT... | pathogenic | 313,785 |
Variant in HNF4A (hepatocyte nuclear factor 4 alpha), chromosome 20, position 44424104—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Monogenic_diabetes'] | ACTGAGGCATGATTAACTTGCTCAAGGTCACACAACCGGAAAATGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGC... | ACTGAGGCATGATTAACTTGCTCAAGGTCACACAACCGGAAAATGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGC... | pathogenic | 313,789 |
A genetic variant at chromosome 20, position 44424132, affecting gene HNF4A (hepatocyte nuclear factor 4 alpha)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Fanconi_renotubular_syndrome_4_with_maturity-onset_diabetes_of_the_young', 'Hyperinsulinism_due_to_HNF4A_deficiency', 'Maturity-onset_diabetes_of_the_young_type_1', 'Monogenic_diabetes', 'Type_2_diabetes_mellitus'] | CACACAACCGGAAAATGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACA... | CACACAACCGGAAAATGGCAGAGCTTGGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACA... | pathogenic | 313,799 |
Considering the genetic mutation at chromosome 20, position 44424158, impacting HNF4A (hepatocyte nuclear factor 4 alpha): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Monogenic_diabetes'] | GGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAAT... | GGATTTGAACTTCAGACCACCTGTCAATCCCAATTTCTCTCTCTCAAGCCCACATTCTTACCTACCACCTGCTATCCCACACTTACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAAT... | pathogenic | 313,801 |
Is the genetic change at chromosome 20, position 44424242, within gene HNF4A (hepatocyte nuclear factor 4 alpha) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young'] | ACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATA... | ACCAGAGGGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATA... | pathogenic | 313,814 |
Chromosome 20, position 44424249, gene HNF4A (hepatocyte nuclear factor 4 alpha): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Monogenic_diabetes'] | GGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCAT... | GGTGAGATTTCTAGTTCTAGTTCCCTCCACAGCCTGGCCCAGCCTGTATCCTCTGTAGTGCTCAACACGAGGCTGGACTGGCAGAATTGTTCTGCAAAATGGGAAGGATCACTGATGCTGAGTCAGAGGCAGCAGCCTCCAGCAATTTGAAGGGGCGGGGGACCTAGTTCAAGGCCTGGCATGCAGGAGGTGCTCAATAAACATGTGTGGCCTGAATGAACTAATGAATAAGCATGATTCAGTGGAGACAGCCCACTAGAAATGTGGGTGAATGTTCTTTCTGCCACTTCCTTTGTCCATGAAAGAGGAAATAAATGCAT... | pathogenic | 313,816 |
Determine whether the variant at chromosome 20, position 44432803, in gene HNF4A (hepatocyte nuclear factor 4 alpha) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AGGCTGGAAGCTGGGAGGTCAGGTGGGGTGGATGATATAATGCGGGTGAGAGTAATGAGGCTTGGGGCTGGAGAGGACAAGATGGGTAAACCCTCACATCAGAGTGACATCCAGGAGGAATAAGCTCCCAGGGCCTGTCTCAAGCTCTTCCTTACTCCCAGGCACTGTCTTAAGGCATCTGACATGCATCATCTCATTTAATCCTCCCTTCCTCCCTATTAACCTAGAGATTGTTTTTGTTTTTTATTCTCCTCCTCCCTCCCCGCCCTCACCCGCCCCACTCCCTCCTAACCTAGAGATTGTTACAGAAGCTGAAATTG... | AGGCTGGAAGCTGGGAGGTCAGGTGGGGTGGATGATATAATGCGGGTGAGAGTAATGAGGCTTGGGGCTGGAGAGGACAAGATGGGTAAACCCTCACATCAGAGTGACATCCAGGAGGAATAAGCTCCCAGGGCCTGTCTCAAGCTCTTCCTTACTCCCAGGCACTGTCTTAAGGCATCTGACATGCATCATCTCATTTAATCCTCCCTTCCTCCCTATTAACCTAGAGATTGTTTTTGTTTTTTATTCTCCTCCTCCCTCCCCGCCCTCACCCGCCCCACTCCCTCCTAACCTAGAGATTGTTACAGAAGCTGAAATTG... | benign | 313,855 |
Regarding the variant found on chromosome 20 at position 44620354 in gene ADA (adenosine deaminase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency'] | CCCCAGACAAGGAAGCTGGCAACCAGCCCCAGAGCAGCGATGGGACCACCTCGTCTTGAATCTGACCTTGTCCAAGAAGGCTGGACGAGAGACCTTCTGTCCCCTCCCAGAGGGGGAACCCTGGCACTGGCCCAGCAGCCTCTTCTCTGAGCTCCATGTCCCAGATAAACCAGGCCAGACTGAGAAGGCTCCCCAGAGGCCTCTGTGGCCTCCACTCCGGGAAAGCCCTCTGCCCACACCCACAGGCTTCACATTCCCACCACCTTCGCACCGTGCCCAGGTACACTTTCAAGACACTGTAACCACAAGATGTTATTTAT... | CCCCAGACAAGGAAGCTGGCAACCAGCCCCAGAGCAGCGATGGGACCACCTCGTCTTGAATCTGACCTTGTCCAAGAAGGCTGGACGAGAGACCTTCTGTCCCCTCCCAGAGGGGGAACCCTGGCACTGGCCCAGCAGCCTCTTCTCTGAGCTCCATGTCCCAGATAAACCAGGCCAGACTGAGAAGGCTCCCCAGAGGCCTCTGTGGCCTCCACTCCGGGAAAGCCCTCTGCCCACACCCACAGGCTTCACATTCCCACCACCTTCGCACCGTGCCCAGGTACACTTTCAAGACACTGTAACCACAAGATGTTATTTAT... | pathogenic | 313,861 |
Variant chromosome 20, position 44620379, gene ADA (adenosine deaminase): benign or pathogenic? Disease(s)? | pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency', 'Severe_combined_immunodeficiency_disease'] | GCCCCAGAGCAGCGATGGGACCACCTCGTCTTGAATCTGACCTTGTCCAAGAAGGCTGGACGAGAGACCTTCTGTCCCCTCCCAGAGGGGGAACCCTGGCACTGGCCCAGCAGCCTCTTCTCTGAGCTCCATGTCCCAGATAAACCAGGCCAGACTGAGAAGGCTCCCCAGAGGCCTCTGTGGCCTCCACTCCGGGAAAGCCCTCTGCCCACACCCACAGGCTTCACATTCCCACCACCTTCGCACCGTGCCCAGGTACACTTTCAAGACACTGTAACCACAAGATGTTATTTATTGAGCTGGCGCCGGGACTTGGGCGG... | GCCCCAGAGCAGCGATGGGACCACCTCGTCTTGAATCTGACCTTGTCCAAGAAGGCTGGACGAGAGACCTTCTGTCCCCTCCCAGAGGGGGAACCCTGGCACTGGCCCAGCAGCCTCTTCTCTGAGCTCCATGTCCCAGATAAACCAGGCCAGACTGAGAAGGCTCCCCAGAGGCCTCTGTGGCCTCCACTCCGGGAAAGCCCTCTGCCCACACCCACAGGCTTCACATTCCCACCACCTTCGCACCGTGCCCAGGTACACTTTCAAGACACTGTAACCACAAGATGTTATTTATTGAGCTGGCGCCGGGACTTGGGCGG... | pathogenic | 313,862 |
Clinical classification of chromosome 20, position 44620397, gene ADA (adenosine deaminase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency'] | GACCACCTCGTCTTGAATCTGACCTTGTCCAAGAAGGCTGGACGAGAGACCTTCTGTCCCCTCCCAGAGGGGGAACCCTGGCACTGGCCCAGCAGCCTCTTCTCTGAGCTCCATGTCCCAGATAAACCAGGCCAGACTGAGAAGGCTCCCCAGAGGCCTCTGTGGCCTCCACTCCGGGAAAGCCCTCTGCCCACACCCACAGGCTTCACATTCCCACCACCTTCGCACCGTGCCCAGGTACACTTTCAAGACACTGTAACCACAAGATGTTATTTATTGAGCTGGCGCCGGGACTTGGGCGGGGCCTGCCCTACAGTGAG... | GACCACCTCGTCTTGAATCTGACCTTGTCCAAGAAGGCTGGACGAGAGACCTTCTGTCCCCTCCCAGAGGGGGAACCCTGGCACTGGCCCAGCAGCCTCTTCTCTGAGCTCCATGTCCCAGATAAACCAGGCCAGACTGAGAAGGCTCCCCAGAGGCCTCTGTGGCCTCCACTCCGGGAAAGCCCTCTGCCCACACCCACAGGCTTCACATTCCCACCACCTTCGCACCGTGCCCAGGTACACTTTCAAGACACTGTAACCACAAGATGTTATTTATTGAGCTGGCGCCGGGACTTGGGCGGGGCCTGCCCTACAGTGAG... | pathogenic | 313,864 |
Considering the variant on chromosome 20, location 44621022, involving gene ADA (adenosine deaminase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency'] | TGCCCTGTCCACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGG... | TGCCCTGTCCACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGG... | pathogenic | 313,870 |
Clinically, how would you classify the variant at chromosome 20, position 44621032, gene ADA (adenosine deaminase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency'] | ACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGT... | ACCAGGATAAGTGACACCTAGGACCCAGGAAATAAATGCCGATGATTTGTGTGACTGGTTTAAGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGT... | pathogenic | 313,871 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 44621094, gene ADA (adenosine deaminase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency'] | AGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCT... | AGATTATTTCTCCTTAACCTTGCAAAAACAGGGGTTGGGCCTTATTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCT... | pathogenic | 313,875 |
Is the genetic mutation found on chromosome 20 at position 44621138, within the gene ADA (adenosine deaminase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency'] | TTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATT... | TTTTCCCCAAGTCCACAATTAGCCGGACTTGCCCCAGGCTTCTAGAACATACGATTCTGAGAAGATGCTGGCGTTCTGCAGAGGCCAGCACCCTCCAAGGCCAGTGTCTGATGAGCCCTCTTCCATCTCATCTGCTCTCACCCCAACTGCCAGCTTCAGGAACCCAAAAGGAAGCTTTACTCCTTAAAACCTAGAGTTAGGAGGGGCTGAGAGTTCAGGGAATGTTTGAGCAACAACCAGAGAAGCCTTATTTCTTCTGGAAGGAGGACAGCCTCTGGACCCCTCTTGGCCCACAGCATTGGGATCTCTGGCCTGGCATT... | pathogenic | 313,879 |
Evaluate the clinical significance of the mutation at chromosome 20, position 44622642 in gene ADA (adenosine deaminase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency'] | ATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAG... | ATGAAAAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAG... | pathogenic | 313,885 |
Variant in ADA (adenosine deaminase), chromosome 20, position 44622647—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency'] | AAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGA... | AAAGGGCTGTGAGAAGGAAGTTGGAGAAACCTTTGAGAGACAGGGTGGCATGTAGGGGGCCAGAGACACCTCGCAGACACGTGCAGGAATGGACTTATTCAGCCTGGGATTTAAGAACAACCTGAAGAGAGTGTGCAAGACTTCATAGCTGCTGCACACACCTTTCTGGGGAGAGGGTTGACAGCTTTCACTGGATTCTTTAAAGGCACTCAACCCAAGCAAAGGATCAAAAACCTGGTCCTAGGTCAGGACGTCAACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGA... | pathogenic | 313,886 |
The mutation impacting ADA (adenosine deaminase) on chromosome 20 at position 44622903: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency'] | ACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATC... | ACACAAAGATGTCTTCTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATC... | pathogenic | 313,895 |
Variant in ADA (adenosine deaminase), chromosome 20, position 44622918—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency'] | CTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTC... | CTCTGTGGAAAGTGTCTAGGTTGGGCTTGTCTTGGACTGTTGAGGCAGACTCACTCCCTCTCTCCAAAGATTCCAGGCCCCGGACTGGACCTGTAGATACCATACTCCCAAACCCGAGTCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTC... | pathogenic | 313,898 |
Variant in ADA (adenosine deaminase), chromosome 20, position 44623036—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency'] | TCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGT... | TCAAGGCCAGTATGGCTCACACCCACTCACCAGCCTTTTAAACTCCTCTTCAGTAAAGCCCATGTCCCGTTTGGTCATCTGGTAATCAGTGTCCAGGGTGGACTTGAAGATGAGCGGGTCATCTGTGTTGAGCGAGTAGTTAGCCTGGTCATTTTTGAGCCTGCAGAAGAGGGAGGAGGAGAGAATCAGCCTCCTTTTACTCTTACATAAATAGTCAGAACACATTGACGTTCACCCGCCTTTGATCCTCACAGCAGCCTCAAACAGATCTGAAAGATCTGATCCTTGTGCAGAGGGGGAAATAAATTCAGAACTTAGGT... | pathogenic | 313,900 |
Is the genetic mutation found on chromosome 20 at position 44624230, within the gene ADA (adenosine deaminase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency'] | TGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGC... | TGGCGCTCAGGGGAATGCCCAGGGGTCCCAAGGGCCAGGTGTCAGGAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGC... | pathogenic | 313,911 |
Is the genetic variant on chromosome 20, position 44624275, gene ADA (adenosine deaminase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency'] | GAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTT... | GAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTT... | pathogenic | 313,914 |
Clinical significance of chromosome 20, position 44624275, gene ADA (adenosine deaminase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['ADA-related_disorder', 'Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency', 'Severe_combined_immunodeficiency_disease'] | GAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTT... | GAAGAGAGAACATGCTGGCCAGAGGGACTCCTGCTTCCTATGCGATGCCCAGGGGGCAGAGTTGGGAGAATTGGAAGTGTGGAAGCTTCCCTCAGAGTAATGGAGCGTTCTGCTCCAGCTGATGAGCTGTAGGGCCCCAGCTCTGCTGGTTAGCAGCTGGGTAATCCCAGTCAAGCCACAGCACATCTGGGCCTCGGATTCCTCATTTGTAAGATGAGGACGGCAATGCCTGCTTCCCAGGGTGTCGAAGAGATTTCATATCTAAAAGACGCGGCATGGGCTGATGCCCAATCCCTAAAGTTTCTTCCCTCTTTGGCCTT... | pathogenic | 313,915 |
Classify the chromosome 20 variant at position 44625636 affecting gene ADA (adenosine deaminase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency'] | TCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCC... | TCACAGCCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCC... | pathogenic | 313,928 |
A genetic alteration at chromosome 20, position 44625642, in gene ADA (adenosine deaminase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency'] | CCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTA... | CCAGAAGCAGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTA... | pathogenic | 313,929 |
The chromosome 20, position 44625650 genetic variant in gene ADA (adenosine deaminase): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency', 'Severe_combined_immunodeficiency_disease'] | AGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTT... | AGGCTCAGCACAGGACTCCCAACACCAAGTGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTT... | pathogenic | 313,931 |
Variant in gene ADA (adenosine deaminase), located at chromosome 20 position 44625679: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency'] | TGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGT... | TGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGT... | pathogenic | 313,937 |
Does the chromosome 20 mutation at position 44625679 within gene ADA (adenosine deaminase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency', 'Severe_combined_immunodeficiency_disease'] | TGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGT... | TGGAGGCTTTTCTTTCTCTCTCCCTTCCTTCCTTCTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTTTTTCCTTCCTTCCTCTCTTTCTTTCTCTTTCTTTTCTCTTTCTTCTTTCTTCCTTTTTTTTTTTTTTGAGACAGGGTCTCCCTCTGTCACCCAGGCTGGAGTGCAGTCGCATTATCACAGCTCACTGCAGCTTTGACTTCCTGGACTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCATGCCTGACTACTTTTTTTTGTATTTGCAGAGATGGATCTCACTATGT... | pathogenic | 313,938 |
Evaluate this variant at chromosome 20, position 44626447, gene ADA (adenosine deaminase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-negative,_due_to_adenosine_deaminase_deficiency'] | CTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAAC... | CTGTCCCACCCAAACCCCCCATGGGAGGCCAGCACAAAACAGGGCTCAGTGTCTTCAAATCCTAACTGCTATGTCCTAACCACATGGCCTGCGGAAAACTGCTCTGCTTATGGCCTCAGTTTCCGCCCTTTTCAGAAAGAACCCTGCCAGCTATTGCACAGGGTCACGGCCAGGCTTTGCCGAGGCCATGTGTGTAAAGCACCAAGGACGGGGCCTGAGCTCAGTAAATGACACGGACCCTTCTCTCACCTGGTGTTTCCAACAACACTCATGGTAGGCTTATTCCCATGCGCAGATGAGGAAACGGAGGACCGTTTAAC... | pathogenic | 313,940 |
Variant chromosome 20, position 45419425, gene PIGT (phosphatidylinositol glycan anchor biosynthesis class T): benign or pathogenic? Disease(s)? | benign | GAATTGTGGCAGGCTAGAGAGTTTGTGTGACATTCTAACGAGGACAGCTCTGCCACTCAGCTTCTATGGATTGTTGCCATGTGGGAATAGAGGCCTAATGTGGTCAGAGTCAAATGTTTCTAAAAATTTTTTGTAGAAACAAGGTCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCAAGAGCCACCACACCTGGCCTCATTTTTCAAGAGATACCAGAAATCTGGAATTTAATGTGAAAATTGGCAAATTCAAATATCAGCAAGT... | GAATTGTGGCAGGCTAGAGAGTTTGTGTGACATTCTAACGAGGACAGCTCTGCCACTCAGCTTCTATGGATTGTTGCCATGTGGGAATAGAGGCCTAATGTGGTCAGAGTCAAATGTTTCTAAAAATTTTTTGTAGAAACAAGGTCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCAAGAGCCACCACACCTGGCCTCATTTTTCAAGAGATACCAGAAATCTGGAATTTAATGTGAAAATTGGCAAATTCAAATATCAGCAAGT... | benign | 314,008 |
The chromosome 20, position 45419514 genetic variant in gene PIGT (phosphatidylinositol glycan anchor biosynthesis class T): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Inborn_genetic_diseases'] | GAGGCCTAATGTGGTCAGAGTCAAATGTTTCTAAAAATTTTTTGTAGAAACAAGGTCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCAAGAGCCACCACACCTGGCCTCATTTTTCAAGAGATACCAGAAATCTGGAATTTAATGTGAAAATTGGCAAATTCAAATATCAGCAAGTAATTTAAAAATTTTTTGAGTGCTGTGCGGGTCAATGTTGTGCATACCAAATGAAGCATGTTTATGGTTTGAGTAGAGCTTTCCGGCTTC... | GAGGCCTAATGTGGTCAGAGTCAAATGTTTCTAAAAATTTTTTGTAGAAACAAGGTCTCACTATATTGCCCAGGCTGGTCTCGAACTCCTGGGTTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCAAGAGCCACCACACCTGGCCTCATTTTTCAAGAGATACCAGAAATCTGGAATTTAATGTGAAAATTGGCAAATTCAAATATCAGCAAGTAATTTAAAAATTTTTTGAGTGCTGTGCGGGTCAATGTTGTGCATACCAAATGAAGCATGTTTATGGTTTGAGTAGAGCTTTCCGGCTTC... | pathogenic | 314,009 |
Variant chromosome 20, position 45420577, gene PIGT (phosphatidylinositol glycan anchor biosynthesis class T): benign or pathogenic? Disease(s)? | pathogenic; ['Inborn_genetic_diseases', 'Multiple_congenital_anomalies-hypotonia-seizures_syndrome_3', 'PIGT-related_disorder'] | AGGGGAGGTAAGCACTGGAGCCGGATCATGAAGGTAGGCAGAAAGAAGTTAGCAAAGGCTTGCAAGGAAGGAAGAATCACCTGAGCAGAGACCCATGGGGATGCAGAGATGTCCAGAGGAGAGTGAGGAAGAAGGGGCTGAGTAGGATGAGACCCAGCAAGTGGGCTGGCTGGGGGCAGCAATGTTCCAGCTCCATCAACTGGCCCGTCTAATAGTTAAGAATACAGCCTCCTCCTATCATAGGTTTAGCAGCCAGCTGTGGACTTTGAAAGAGGGAGCAGAGGTAGCCCCAGGACAGTGAGTGGATTTGTGTCTCTATC... | AGGGGAGGTAAGCACTGGAGCCGGATCATGAAGGTAGGCAGAAAGAAGTTAGCAAAGGCTTGCAAGGAAGGAAGAATCACCTGAGCAGAGACCCATGGGGATGCAGAGATGTCCAGAGGAGAGTGAGGAAGAAGGGGCTGAGTAGGATGAGACCCAGCAAGTGGGCTGGCTGGGGGCAGCAATGTTCCAGCTCCATCAACTGGCCCGTCTAATAGTTAAGAATACAGCCTCCTCCTATCATAGGTTTAGCAGCCAGCTGTGGACTTTGAAAGAGGGAGCAGAGGTAGCCCCAGGACAGTGAGTGGATTTGTGTCTCTATC... | pathogenic | 314,014 |
Benign or pathogenic: chromosome 20, position 45421385, gene PIGT (phosphatidylinositol glycan anchor biosynthesis class T) variant? Disease(s) if pathogenic? | pathogenic; ['Multiple_congenital_anomalies-hypotonia-seizures_syndrome_3'] | AGGTGGTCTGCACCGAAAACCTCACCCCCTGGAAGAAGCTCTTGCCCTGTAGTTCCAAGGTGAGGCCGCAGAGCCTGGCAGCCGGGGGCGGGGGGTGTATAGAGAACCTGCGCCCCATGCCAAGTGCTCCATACAGGGCTTCTCTTATCTCTTTCCATCTCCTCCAGGCAGGCCTCTCTGTGCTGCTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAGGCAGTGCATATCCGCCCTGTTTGCAGAGTAAGTCATGGGGAGTAGAGGAAGCTGCCATCCAGGGGCTCAGAGAAGGTACATGTAAAGCATGTG... | AGGTGGTCTGCACCGAAAACCTCACCCCCTGGAAGAAGCTCTTGCCCTGTAGTTCCAAGGTGAGGCCGCAGAGCCTGGCAGCCGGGGGCGGGGGGTGTATAGAGAACCTGCGCCCCATGCCAAGTGCTCCATACAGGGCTTCTCTTATCTCTTTCCATCTCCTCCAGGCAGGCCTCTCTGTGCTGCTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAGGCAGTGCATATCCGCCCTGTTTGCAGAGTAAGTCATGGGGAGTAGAGGAAGCTGCCATCCAGGGGCTCAGAGAAGGTACATGTAAAGCATGTG... | pathogenic | 314,019 |
The chromosome 20, position 45891598 genetic variant in gene CTSA (cathepsin A): benign or pathogenic? If pathogenic, indicate disease(s). | benign | ACTTTGTTGCCCAGGCTTGAGCTAGCTAGCTTGCTTGCTTGCTTGCTTTCTCTCTCTTCCTCTCTCTCTCTCTTTCTTTTTTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCC... | ACTTTGTTGCCCAGGCTTGAGCTAGCTAGCTTGCTTGCTTGCTTGCTTTCTCTCTCTTCCTCTCTCTCTCTCTTTCTTTTTTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCC... | benign | 314,039 |
Gene CTSA (cathepsin A) variant at chromosome position 45891598 on chromosome 20: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ACTTTGTTGCCCAGGCTTGAGCTAGCTAGCTTGCTTGCTTGCTTGCTTTCTCTCTCTTCCTCTCTCTCTCTCTTTCTTTTTTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCC... | ACTTTGTTGCCCAGGCTTGAGCTAGCTAGCTTGCTTGCTTGCTTGCTTTCTCTCTCTTCCTCTCTCTCTCTCTTTCTTTTTTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCC... | benign | 314,040 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 45891598, gene CTSA (cathepsin A). What disease(s) is it linked to if pathogenic? | benign | ACTTTGTTGCCCAGGCTTGAGCTAGCTAGCTTGCTTGCTTGCTTGCTTTCTCTCTCTTCCTCTCTCTCTCTCTTTCTTTTTTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCC... | ACTTTGTTGCCCAGGCTTGAGCTAGCTAGCTTGCTTGCTTGCTTGCTTTCTCTCTCTTCCTCTCTCTCTCTCTTTCTTTTTTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCC... | benign | 314,041 |
Considering the genetic mutation at chromosome 20, position 45891678, impacting CTSA (cathepsin A): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase'] | TTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAA... | TTTTTTCAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCACTGGTGAGATCTCGGCTCATTGCAACCTCCACCTCTCGGGTTCAAGTGACTCTCCTGCCTCAGCCTTCTGAATAGCTGGGATTATTGGCACATGCCACCACACCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGCTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGCATGTTTCTAAGAAAAGGGCAAACAATTCTCAA... | pathogenic | 314,044 |
Does the genetic variant at chromosome 20, position 45892703, impacting gene CTSA (cathepsin A), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase'] | AGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGC... | AGACCCAGGTGTGGCCCAGGTTGACCAGATCGGGCAGAGAAAACTCGGGAACGGGGGCCAGACTGGCGGGGTCCAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGC... | pathogenic | 314,050 |
Does the variant on chromosome 20 at location 45892776 affecting gene CTSA (cathepsin A) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase'] | CAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAA... | CAGCGCGGTCAGACCGAGACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAA... | pathogenic | 314,052 |
A genetic variant on chromosome 20, position 45892794, affects the gene CTSA (cathepsin A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase', 'Galactosialidosis,_late_infantile'] | ACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGC... | ACGCAGATGTCCGCACCAGCCCAGCTCTTTCTCCTCGATCTCGACCAGGAAGACCTGGCCCGGGGCCAGCGGCTCGCGGCTGAAGCACACGCCGTGGGCGAAGCTCTCCACGCGTGTGGCCCGCGTCCCAGAGGGGTCCACGCGGATGTTGGCACCGTGCACCCGATGGAAGCGGGTGGGAGGGGGCTCCGGGCGCTCGAGTCCCCAGAGTGCACCCGAATCCACGGGCTCGGAGGCAGCAGCCATCTCTCGGCCATAGGGCAGGCCAGCTGGCGCCGGGGGCTATTTTGGGCGGCGGGCAATGATGGTGACCGCAAGGC... | pathogenic | 314,053 |
Clinical classification of chromosome 20, position 45893240, gene CTSA (cathepsin A): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase'] | CCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGG... | CCCGGGCTACGATCTGCGAGGCCCGCGGACCTTGACCCGGCATTGACCGCCACCGCCCCCCAGGTCCGTAGGGACCAAAGAAGGGGCGGGAGGAAGACTGTCACGTGGCGCCGGAGTTCACGTGACTCGTACACATGACTTCCAGTCCCCGGGCGCCTCCTGGAGAGCAAGGACGCGGGGGAGCAGAGGTGAGCTGGCACCGGAGGCTGGAGGGGATCCCCGAGCCCGGGATCGGTGCGCGGCAGAGGAGGCTCGCGGGTGGGAGCTGGCGCTGGGGCCGGGGCTTCCCTCGCGGAGGCGCCGCCAGCAACTCCCCGGGG... | pathogenic | 314,056 |
The chromosome 20, position 45894703 genetic variant in gene CTSA (cathepsin A): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase'] | TCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAAC... | TCTCTGAAGTTCTTTCCAGTTCAAATACCAAAGCTTCCTGATTCCCTCTGTCTTGCTCTGCCATCCCCAGGTCGCCCAGAGCAATTTTGAGGCCCTTCAAGATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAAC... | pathogenic | 314,066 |
The chromosome 20, position 45894803 genetic variant in gene CTSA (cathepsin A): benign or pathogenic? If pathogenic, indicate disease(s). | benign | GATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTT... | GATTTCTTCCGCCTCTTTCCGGAGTACAAGAACAACAAACTTTTCCTGACCGGGGAGAGCTATGCTGGCATCTACATCCCCACCCTGGCCGTGCTGGTCATGCAGGATCCCAGCATGAACCTTCAGGTGCAGGGTAGCTGCAGGAGGGAAGGGAGGTAGCTTGAGGCTGTGGCCTTACAGTTAGCAAGGTCAGACTGACTGGTCAATGTCCCCATCCAACCCAGCTTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTT... | benign | 314,068 |
The mutation impacting CTSA (cathepsin A) on chromosome 20 at position 45895028: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase'] | TTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCT... | TTCCTGCATAACCTCCCCACCACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCT... | pathogenic | 314,073 |
A genetic variant on chromosome 20, position 45895049, affects the gene CTSA (cathepsin A). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase'] | ACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGAT... | ACCGGCTGCCCTAGGTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGAT... | pathogenic | 314,074 |
The mutation in gene CTSA (cathepsin A) at chromosome 20, position 45895063—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Combined_deficiency_of_sialidase_AND_beta_galactosidase'] | GTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCA... | GTCTGTCTGTGTGCCTCCCACACAGGAAACTCACCTGTCAGGCTGCCAGCTCTGTGTTTTGCATTGAGTGGCCTCTCATACCCACCGGCCTACATAAACCACCCTGGGTTTCAGCTTCCGGATTGCTGAAGGTCTGGGTGGTAGGGTGAGGGAGGCTCTTCCTTTTTGCCCTCCACATGAGCTGAGCACCCTGGGTGTTTCACAGGGGCTGGCTGTGGGCAATGGACTCTCCTCCTATGAGCAGAATGACAACTCCCTGGTCTACTTTGCCTACTACCATGGCCTTCTGGGGAACAGGTATGGGATAGGGCAGTTGGGCA... | pathogenic | 314,075 |
Variant in SLC2A10 (solute carrier family 2 member 10), chromosome 20, position 46725514—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Arterial_tortuosity_syndrome', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | ATTGATTGGGCCACATTCACCTCATTTAGCATCTCCATACAACAGCAAGAGCAATATTTTAAAAATTAAAAATAGATGACCGATTTGTTTCCTGTTGGGACTCATAAAAAATGAAAAATAAAAGTAGATCACCTCATTCCTGGCTGAAGCCAGCAAAGGCTTCCAACCACTGAGAATGACATTCCTCATTGTCCTCTTGACTTGCAAAGCCCCACATGATCTGGCCCCTGCCTATTTCTCCTGCCTCATCATCTCCCATCACTCTCACTCACTGGGCTTCAGCCTCTGGCCTCCTGTCTGATTACCTCAGTGATTAAAGG... | ATTGATTGGGCCACATTCACCTCATTTAGCATCTCCATACAACAGCAAGAGCAATATTTTAAAAATTAAAAATAGATGACCGATTTGTTTCCTGTTGGGACTCATAAAAAATGAAAAATAAAAGTAGATCACCTCATTCCTGGCTGAAGCCAGCAAAGGCTTCCAACCACTGAGAATGACATTCCTCATTGTCCTCTTGACTTGCAAAGCCCCACATGATCTGGCCCCTGCCTATTTCTCCTGCCTCATCATCTCCCATCACTCTCACTCACTGGGCTTCAGCCTCTGGCCTCCTGTCTGATTACCTCAGTGATTAAAGG... | pathogenic | 314,343 |
Is chromosome 20, position 46725763, gene SLC2A10 (solute carrier family 2 member 10) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Arterial_tortuosity_syndrome', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | CATCTCCCATCACTCTCACTCACTGGGCTTCAGCCTCTGGCCTCCTGTCTGATTACCTCAGTGATTAAAGGTCCTCACTTTAGCCACATCATCTCTACAACTTACTTGTTATGTGACCATGAGAAAGTTTCTTAACTTCTCTGCACTTTGGAGGATGATATGTTATAGGGTAGCTGTAACAATTAAATGAGAAAATACATATAAAGCTCTTAAAACAGATTCTGGCATTTAGTAAGGGCCATATAAGTACTAACCATTAATATCCATAGTTGTTCAAACACCAAGAACTGTCCTACCTCAGGGCCTCTGTACTTTGTGTT... | CATCTCCCATCACTCTCACTCACTGGGCTTCAGCCTCTGGCCTCCTGTCTGATTACCTCAGTGATTAAAGGTCCTCACTTTAGCCACATCATCTCTACAACTTACTTGTTATGTGACCATGAGAAAGTTTCTTAACTTCTCTGCACTTTGGAGGATGATATGTTATAGGGTAGCTGTAACAATTAAATGAGAAAATACATATAAAGCTCTTAAAACAGATTCTGGCATTTAGTAAGGGCCATATAAGTACTAACCATTAATATCCATAGTTGTTCAAACACCAAGAACTGTCCTACCTCAGGGCCTCTGTACTTTGTGTT... | pathogenic | 314,359 |
Does the chromosome 20 mutation at position 46726907 within gene SLC2A10 (solute carrier family 2 member 10) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Arterial_tortuosity_syndrome', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'SLC2A10-related_disorder'] | GGAGTGGATGGATGGACGGATGGATGGATGGATGGATGGATGGATGGTTTGAATGGATGGTTGAATAGATGGAGTAGATGGATGGATAAATGAAGGTGTTGACAGATGGAGGGAAGGTTGAATGGATGGATGGTATGACAAGGAACCATTCTAACTCTGTCCCTCTCACTTTTGTTTTTTAGGCCACTCCCCACCTGTCCTGCCTTTGTGTGCCTCTGTGTCTTTGCTGGGTGGCCTGACCTTTGGTTATGAACTGGCAGTCATATCAGGTGCCCTGCTGCCACTGCAGCTTGACTTTGGGCTAAGCTGCTTGGAGCAGG... | GGAGTGGATGGATGGACGGATGGATGGATGGATGGATGGATGGATGGTTTGAATGGATGGTTGAATAGATGGAGTAGATGGATGGATAAATGAAGGTGTTGACAGATGGAGGGAAGGTTGAATGGATGGATGGTATGACAAGGAACCATTCTAACTCTGTCCCTCTCACTTTTGTTTTTTAGGCCACTCCCCACCTGTCCTGCCTTTGTGTGCCTCTGTGTCTTTGCTGGGTGGCCTGACCTTTGGTTATGAACTGGCAGTCATATCAGGTGCCCTGCTGCCACTGCAGCTTGACTTTGGGCTAAGCTGCTTGGAGCAGG... | pathogenic | 314,390 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 46729502, gene SLC2A10 (solute carrier family 2 member 10). What disease(s) is it linked to if pathogenic? | benign | GGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGTAATCCCAAAGTGCTGGGATTACGGGCATGAGCCACCGTGTCTGGCCTGGAAGTTTTTCTCAAATCAAGTTTGGGTGACATCATCTCTTCCTCCCTAGCATTGAAACCCATTCTGAGGTGTGGTGGGATGGGGTGGAAATGATGTGGGCCCAGAACACCAGGGAATGACTCTGAGATGCTGAGATGCTCATGGCTCCAGGCCCTG... | GGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAAAGACAGGGTTTCACCAGGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGTAATCCCAAAGTGCTGGGATTACGGGCATGAGCCACCGTGTCTGGCCTGGAAGTTTTTCTCAAATCAAGTTTGGGTGACATCATCTCTTCCTCCCTAGCATTGAAACCCATTCTGAGGTGTGGTGGGATGGGGTGGAAATGATGTGGGCCCAGAACACCAGGGAATGACTCTGAGATGCTGAGATGCTCATGGCTCCAGGCCCTG... | benign | 314,410 |
Is the variant located on chromosome 20 at position 49374471, gene KCNB1 (potassium voltage-gated channel subfamily B member 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Developmental_and_epileptic_encephalopathy,_26'] | GGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAA... | GGATCGTGGCTTATGGCGCAGAGACTTCCCCATGACCAATCATTCCCTGTAGCTGTCTAACAGTGGAATCCATCCAGGAGGTGATGGACAGGTGTTCCTAGGGGTGGCTGGGCAACATTCAATACCAAATTGGTCAACCCACTCTTTCAACACCAGCCGCTTGTTCCAGCATCCTTCTCTAGCTGAAGCCAGGAGGACTGTCAATGTTGCCCTCCGAGGCTGAGATGGAAAGCCACGAGAGAATGGGGAGTATGTGGCCTCGGTCCTGTCTAAAGTGGTGGTAGTGGTGGCTGTGAGTTCCACTCATGTCATCTCCCAAA... | pathogenic | 314,612 |
Benign or pathogenic: chromosome 20, position 50891845, gene ADNP (activity dependent neuroprotector homeobox) variant? Disease(s) if pathogenic? | pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder', 'Inborn_genetic_diseases'] | GGTAAAAATACCAGCTCCTTCCATCTTTACAGCCCTGTCAGTGCTGTGCTCTTCAAAGCCTTTCCCTTAATAGCAAGAGGGCCAAGAGTGGCAAATAGAGGCAGAGCCGCCTGCACTACAGTTGTTCCCATCGTAAGGTGAAAACGAACGTTTAACTTCATCTAGAAGAAAAAACAAACAAAAAACCCATCAGGCTATTAAGATTCTGCTTGCAAATTAATGCCAATCCATGTTTACATTTTTTTTTTTATCATTGAGACATTTACATATATATGCAGGCTCTGCTCCTTAACAAAAGGTGAACTGAAAAACTCAAGGGT... | GGTAAAAATACCAGCTCCTTCCATCTTTACAGCCCTGTCAGTGCTGTGCTCTTCAAAGCCTTTCCCTTAATAGCAAGAGGGCCAAGAGTGGCAAATAGAGGCAGAGCCGCCTGCACTACAGTTGTTCCCATCGTAAGGTGAAAACGAACGTTTAACTTCATCTAGAAGAAAAAACAAACAAAAAACCCATCAGGCTATTAAGATTCTGCTTGCAAATTAATGCCAATCCATGTTTACATTTTTTTTTTTATCATTGAGACATTTACATATATATGCAGGCTCTGCTCCTTAACAAAAGGTGAACTGAAAAACTCAAGGGT... | pathogenic | 314,686 |
Is the variant located on chromosome 20 at position 50892001, gene ADNP (activity dependent neuroprotector homeobox), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder'] | TTCATCTAGAAGAAAAAACAAACAAAAAACCCATCAGGCTATTAAGATTCTGCTTGCAAATTAATGCCAATCCATGTTTACATTTTTTTTTTTATCATTGAGACATTTACATATATATGCAGGCTCTGCTCCTTAACAAAAGGTGAACTGAAAAACTCAAGGGTGTTTGTTTTTCAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAACAGATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGA... | TTCATCTAGAAGAAAAAACAAACAAAAAACCCATCAGGCTATTAAGATTCTGCTTGCAAATTAATGCCAATCCATGTTTACATTTTTTTTTTTATCATTGAGACATTTACATATATATGCAGGCTCTGCTCCTTAACAAAAGGTGAACTGAAAAACTCAAGGGTGTTTGTTTTTCAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAACAGATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGA... | pathogenic | 314,695 |
Does the variant impacting ADNP (activity dependent neuroprotector homeobox) on chromosome 20, position 50892214, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder', 'Inborn_genetic_diseases'] | AACAGATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACT... | AACAGATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACT... | pathogenic | 314,701 |
The chromosome 20, position 50892214 genetic variant in gene ADNP (activity dependent neuroprotector homeobox): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder'] | AACAGATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACT... | AACAGATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACT... | pathogenic | 314,702 |
Benign or pathogenic: chromosome 20, position 50892219, gene ADNP (activity dependent neuroprotector homeobox) variant? Disease(s) if pathogenic? | pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder', 'Inborn_genetic_diseases', 'Intellectual_disability'] | ATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACTAAAGA... | ATTTTGTACCAGGTGCCTCAAGAGAAAGCATTCTATTTGCAGATGACAGATCTTGGGTTTTCCACAAGTTTCCTCTGTGACTGTGGCTGCCATCTCTGATGAAAGAGTTATGGCATTAAATGGCAAAAGATATAATGGACACACAGGACTGTCATGTGTAATAAAGCAAATATTTACATTAAGCACAATACAGCAATTTATTTAGATGCTTAAAATGAATACAAAGGGAAAATAAAGATCACAAAATTATACATACTACAACAGTGTGTCATATATTAGATGGTATAAATGAATCCACCATGATGGTGTTGAACTAAAGA... | pathogenic | 314,703 |
Regarding the variant found on chromosome 20 at position 50892501 in gene ADNP (activity dependent neuroprotector homeobox): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder'] | GTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGT... | GTATAAATGAATCCACCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGT... | pathogenic | 314,711 |
Is the variant located on chromosome 20 at position 50892516, gene ADNP (activity dependent neuroprotector homeobox), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder'] | CCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCT... | CCATGATGGTGTTGAACTAAAGATAAAACTAAATATCCAAAATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCT... | pathogenic | 314,712 |
A genetic alteration at chromosome 20, position 50892556, in gene ADNP (activity dependent neuroprotector homeobox)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['ADNP-related_disorder', 'ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder'] | AATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCT... | AATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCT... | pathogenic | 314,714 |
A genetic variant on chromosome 20, position 50892557, affects the gene ADNP (activity dependent neuroprotector homeobox). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder', 'Inborn_genetic_diseases', 'Intellectual_disability', 'Neurodevelopmental_disorder'] | ATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTA... | ATGCAGCACTCATTGGTTTGCTGCTTCAACACAACACACTTTTATACAGATCTAAAAGGTGTCAAAATTAGTAGCTGCAAAGTCAATTCTTGCATGTGATTTTAGCTTAAAAGATTTCAGAAAACAGATCTGAAATACCAGTTTTTGTTTTTGACAGCTGTAATGTCAAGGATATTCAGAACAAGAAAAATCCTATAATACAAGAGAGTCCAGATATATATCTTACGTGGCTGGCCTCTGTTGCAAGATTGTACAAGGTTATGTGCAAAAACTAAGTCTGTCCAAAAAGTCCATACTAGCGCAGTTTTGAGCTTTTGCTA... | pathogenic | 314,717 |
Is the chromosome 20, position 50893875 variant in ADNP (activity dependent neuroprotector homeobox) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTG... | CAACATCGTCTTGGTCAACCTCACTATCAGATGCATTGTGCATTAGTTTGGTTGGTTCCTCAGTCAAATGAATAGTTTCGTATTTTGAACCATCCTCTTTTTGGTCTAGCTTCTCCTCAGATTCTGAAGCATCCTCAGGAATTACCTTCAGTACATGTTCCTCTGGGTTATCGTTAGAGATTTTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTG... | benign | 314,750 |
Does the variant impacting ADNP (activity dependent neuroprotector homeobox) on chromosome 20, position 50894057, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder'] | TTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCA... | TTAGGTTCAACTTCAAAAACAGGGTCAAAAGGGCTACCACTTTCATTGGATTCTTCTTCCAAATTTTCAAAACTGTCTGAGGAACTGTCATCTTCCTTCCCAAGGTTGAGCTTTTTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCA... | pathogenic | 314,755 |
Considering the variant on chromosome 20, location 50894171, involving gene ADNP (activity dependent neuroprotector homeobox), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder', 'Inborn_genetic_diseases'] | TTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACC... | TTGTCAGCAGTCTTACTAGCATTGACTCTGGAATCCTTCTCATCATGATTTTCAAATAGCCACTCAGCATCAAAATCCATCTCATGCTTGACTTTATTTAATTCTTTCATGTTAAACCCCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACC... | pathogenic | 314,758 |
Variant in gene ADNP (activity dependent neuroprotector homeobox), located at chromosome 20 position 50894289: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAA... | CCAGCAACACGCCAGGCTTGTACTTTTCACAATCACGGACACACTTCTTCCTTTTGTTACTAAAATGGGAAGCGATGTCACTCTTCCATAACCATAAACTGGCTGCTAGCTTCTCAATTTCTCTCCTGGTGGGATAGGGCTGTTTGTTGAAATACTTTGTTAGAAAGCTTTTCCTGGCTTCATAGGAATCATCTTCATGACCCTTGGGGTCTAAAGCTAAAACAACAGGCTCTTCAGGCTTCTCTTCAAAGAAGCTGGGTGAATCACTATCATCATCTAACTTTCGTTTTTTCAGTAAGGGAAATTCCATTTGCTCGTAA... | benign | 314,762 |
The mutation in gene ADNP (activity dependent neuroprotector homeobox) at chromosome 20, position 50902027—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder'] | AAGCTAAGTGTTATTACAAAAGATTCAGAAGTTAAGAATTTTAAAGTTTTACTTTTTATGTAGCCTAAGTGTGTTTATAAAGTCTACAGTGATGTACAATAATGTCCCTTCATATTCAGTCACCACTCAGAGCAACTTCCAGTCCCGCAAGTGCCCAATATAGGTGTACCAATTTTTCTTTTATATTGCATTTTTACTGTACCTTTTCTATGCTTCACTATGTTTAGAAACACAAATACTTACCATTGTGTTAATCACTCTTATAGTATTCAGTATATAGTATTCTCTTATAGTAACATGCCATACAAGTTTGTAGCCTA... | AAGCTAAGTGTTATTACAAAAGATTCAGAAGTTAAGAATTTTAAAGTTTTACTTTTTATGTAGCCTAAGTGTGTTTATAAAGTCTACAGTGATGTACAATAATGTCCCTTCATATTCAGTCACCACTCAGAGCAACTTCCAGTCCCGCAAGTGCCCAATATAGGTGTACCAATTTTTCTTTTATATTGCATTTTTACTGTACCTTTTCTATGCTTCACTATGTTTAGAAACACAAATACTTACCATTGTGTTAATCACTCTTATAGTATTCAGTATATAGTATTCTCTTATAGTAACATGCCATACAAGTTTGTAGCCTA... | pathogenic | 314,767 |
Chromosome 20, position 50903932, gene ADNP (activity dependent neuroprotector homeobox): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['ADNP-related_multiple_congenital_anomalies_-_intellectual_disability_-_autism_spectrum_disorder'] | TATGAAATGCAATTTTGACACTTTCGATGTTTGGCACTTGCCCGCAATCACTGCACCGCTATAAAAGGCCTAGAGCTGAAAAGGGAGTATACCAAGCATGCTGCCATCTGAGGAAGTCTCCTGTGCCACTTACCTGGTTTTTCGTAAGTGATGGGTCCCACAGTCCTACATCCTCCCATGTAGTGTTTTTCAAATAAAAGTCATTAGGTTCAAATTGTTTAAAATCCTAGAAAACAGTGAAATAAGTTTACAAAAACATAGTGGTATAAACGCTAACCCAATCTTACATGTAAATCTCACCTCTTAACTAAGATGGGGAG... | TATGAAATGCAATTTTGACACTTTCGATGTTTGGCACTTGCCCGCAATCACTGCACCGCTATAAAAGGCCTAGAGCTGAAAAGGGAGTATACCAAGCATGCTGCCATCTGAGGAAGTCTCCTGTGCCACTTACCTGGTTTTTCGTAAGTGATGGGTCCCACAGTCCTACATCCTCCCATGTAGTGTTTTTCAAATAAAAGTCATTAGGTTCAAATTGTTTAAAATCCTAGAAAACAGTGAAATAAGTTTACAAAAACATAGTGGTATAAACGCTAACCCAATCTTACATGTAAATCTCACCTCTTAACTAAGATGGGGAG... | pathogenic | 314,771 |
For chromosome 20, position 50903939, gene ADNP (activity dependent neuroprotector homeobox): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic | TGCAATTTTGACACTTTCGATGTTTGGCACTTGCCCGCAATCACTGCACCGCTATAAAAGGCCTAGAGCTGAAAAGGGAGTATACCAAGCATGCTGCCATCTGAGGAAGTCTCCTGTGCCACTTACCTGGTTTTTCGTAAGTGATGGGTCCCACAGTCCTACATCCTCCCATGTAGTGTTTTTCAAATAAAAGTCATTAGGTTCAAATTGTTTAAAATCCTAGAAAACAGTGAAATAAGTTTACAAAAACATAGTGGTATAAACGCTAACCCAATCTTACATGTAAATCTCACCTCTTAACTAAGATGGGGAGAGGCACA... | TGCAATTTTGACACTTTCGATGTTTGGCACTTGCCCGCAATCACTGCACCGCTATAAAAGGCCTAGAGCTGAAAAGGGAGTATACCAAGCATGCTGCCATCTGAGGAAGTCTCCTGTGCCACTTACCTGGTTTTTCGTAAGTGATGGGTCCCACAGTCCTACATCCTCCCATGTAGTGTTTTTCAAATAAAAGTCATTAGGTTCAAATTGTTTAAAATCCTAGAAAACAGTGAAATAAGTTTACAAAAACATAGTGGTATAAACGCTAACCCAATCTTACATGTAAATCTCACCTCTTAACTAAGATGGGGAGAGGCACA... | pathogenic | 314,772 |
Regarding the variant found on chromosome 20 at position 50935242 in gene DPM1: is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | ATTGTGTGAATAACTAAAAAGATTTAAAAGGCAAACATTATCTACTCTAGTGAGTATCTGAGAAGGCAGTACTATCTATATTAGGTTCTCTAAGGTTGTTACTTAATTTCTGCTCCACATACTTGACACTGAGAACTCAACTTTGAGTTTAGGTTAAGAAAAAATAAATTCTAACCACTCCAAAAAAACTGAGAATATTACATTTCTATTATCTTAGCTTAAAACTAATTTCACATCAAGCACTGATGAATTTTCTTCTTGTTATGAATGAGAGAAGTTTCTTCCCTAAGGAAAGCAGTTCCCTCACTGGCCAGCTGGAC... | ATTGTGTGAATAACTAAAAAGATTTAAAAGGCAAACATTATCTACTCTAGTGAGTATCTGAGAAGGCAGTACTATCTATATTAGGTTCTCTAAGGTTGTTACTTAATTTCTGCTCCACATACTTGACACTGAGAACTCAACTTTGAGTTTAGGTTAAGAAAAAATAAATTCTAACCACTCCAAAAAAACTGAGAATATTACATTTCTATTATCTTAGCTTAAAACTAATTTCACATCAAGCACTGATGAATTTTCTTCTTGTTATGAATGAGAGAAGTTTCTTCCCTAAGGAAAGCAGTTCCCTCACTGGCCAGCTGGAC... | benign | 314,775 |
Clinical impact (benign or pathogenic) of the variant at chromosome 20, location 50935242, gene DPM1: what disease(s) if pathogenic? | benign | ATTGTGTGAATAACTAAAAAGATTTAAAAGGCAAACATTATCTACTCTAGTGAGTATCTGAGAAGGCAGTACTATCTATATTAGGTTCTCTAAGGTTGTTACTTAATTTCTGCTCCACATACTTGACACTGAGAACTCAACTTTGAGTTTAGGTTAAGAAAAAATAAATTCTAACCACTCCAAAAAAACTGAGAATATTACATTTCTATTATCTTAGCTTAAAACTAATTTCACATCAAGCACTGATGAATTTTCTTCTTGTTATGAATGAGAGAAGTTTCTTCCCTAAGGAAAGCAGTTCCCTCACTGGCCAGCTGGAC... | ATTGTGTGAATAACTAAAAAGATTTAAAAGGCAAACATTATCTACTCTAGTGAGTATCTGAGAAGGCAGTACTATCTATATTAGGTTCTCTAAGGTTGTTACTTAATTTCTGCTCCACATACTTGACACTGAGAACTCAACTTTGAGTTTAGGTTAAGAAAAAATAAATTCTAACCACTCCAAAAAAACTGAGAATATTACATTTCTATTATCTTAGCTTAAAACTAATTTCACATCAAGCACTGATGAATTTTCTTCTTGTTATGAATGAGAGAAGTTTCTTCCCTAAGGAAAGCAGTTCCCTCACTGGCCAGCTGGAC... | benign | 314,776 |
Chromosome 20, position 50935243, gene DPM1: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TTGTGTGAATAACTAAAAAGATTTAAAAGGCAAACATTATCTACTCTAGTGAGTATCTGAGAAGGCAGTACTATCTATATTAGGTTCTCTAAGGTTGTTACTTAATTTCTGCTCCACATACTTGACACTGAGAACTCAACTTTGAGTTTAGGTTAAGAAAAAATAAATTCTAACCACTCCAAAAAAACTGAGAATATTACATTTCTATTATCTTAGCTTAAAACTAATTTCACATCAAGCACTGATGAATTTTCTTCTTGTTATGAATGAGAGAAGTTTCTTCCCTAAGGAAAGCAGTTCCCTCACTGGCCAGCTGGACA... | TTGTGTGAATAACTAAAAAGATTTAAAAGGCAAACATTATCTACTCTAGTGAGTATCTGAGAAGGCAGTACTATCTATATTAGGTTCTCTAAGGTTGTTACTTAATTTCTGCTCCACATACTTGACACTGAGAACTCAACTTTGAGTTTAGGTTAAGAAAAAATAAATTCTAACCACTCCAAAAAAACTGAGAATATTACATTTCTATTATCTTAGCTTAAAACTAATTTCACATCAAGCACTGATGAATTTTCTTCTTGTTATGAATGAGAGAAGTTTCTTCCCTAAGGAAAGCAGTTCCCTCACTGGCCAGCTGGACA... | benign | 314,778 |
The genetic variant at chromosome 20, position 50945875, affecting gene DPM1 (dolichyl-phosphate mannosyltransferase subunit 1, catalytic): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Congenital_disorder_of_glycosylation_type_1E', 'Inborn_genetic_diseases'] | CCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCACACCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTCACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAAGCCTGAGTATTTTTAATTCTAACACATATTTTCCCAAATTTGAACACATATTTTCCAAAAGGGTTATAGCAACTTATACTTCCTTCAGCAATATTTGTGTGTCCA... | CCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCACACCACCATGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTCACCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCCCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAAGCCTGAGTATTTTTAATTCTAACACATATTTTCCCAAATTTGAACACATATTTTCCAAAAGGGTTATAGCAACTTATACTTCCTTCAGCAATATTTGTGTGTCCA... | pathogenic | 314,786 |
The mutation impacting SALL4 (spalt like transcription factor 4) on chromosome 20 at position 51790423: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TATGTTGCCAGGCTGGTCTCAAACTCCTGGACTCAGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGATCAGGAGATCGAGACCATCCTGGCTAACGCGGTGAAACCCCACCTCTACTAAAAATACAAAAAAATTAGCCGGCCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGAGGAGCTTGCAGTGAGCTTGAGCTTGAGATGGCGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACTCCGT... | TATGTTGCCAGGCTGGTCTCAAACTCCTGGACTCAGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGATCAGGAGATCGAGACCATCCTGGCTAACGCGGTGAAACCCCACCTCTACTAAAAATACAAAAAAATTAGCCGGCCATGGTGGCGGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGAGGAGCTTGCAGTGAGCTTGAGCTTGAGATGGCGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACTCCGT... | benign | 314,842 |
Clinically, how would you classify the variant at chromosome 20, position 51791237, gene SALL4 (spalt like transcription factor 4): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Duane-radial_ray_syndrome', 'SALL4-related_disorder'] | ATTCTTTCTCTTCAAAGCAAAAGAGATCTTTAAAAATAACTGCCTGCTAGTTTGAGAGTCTGGAGCTGGCTTTGTAAGTAATTAACACCTTCCCCTTTGAATTGTTTATCTGCACAAAGAATAAAGCTTCAAATGCTTGGGAAAAGGTATCACTTTGGGTTTTTTTTTTTTAAAGGCATGGGCAACATATAAACACATATGTAATTTAAGTTCAAATTTCTGCATAAGAAACTACCTTTAAAGCATATGCCCAGACACCATCTTTCTTTGATTCTTTGATACAGCTTTTCCCTTATTTTACCATTAATGACATCAACAAA... | ATTCTTTCTCTTCAAAGCAAAAGAGATCTTTAAAAATAACTGCCTGCTAGTTTGAGAGTCTGGAGCTGGCTTTGTAAGTAATTAACACCTTCCCCTTTGAATTGTTTATCTGCACAAAGAATAAAGCTTCAAATGCTTGGGAAAAGGTATCACTTTGGGTTTTTTTTTTTTAAAGGCATGGGCAACATATAAACACATATGTAATTTAAGTTCAAATTTCTGCATAAGAAACTACCTTTAAAGCATATGCCCAGACACCATCTTTCTTTGATTCTTTGATACAGCTTTTCCCTTATTTTACCATTAATGACATCAACAAA... | pathogenic | 314,855 |
Determine whether the variant at chromosome 20, position 51791960, in gene SALL4 (spalt like transcription factor 4) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Duane-radial_ray_syndrome'] | TAGAAGGGGCTGCTTCAAGTCATACTCTCCGTTTGTAAAGTTCAACCCAGGCTCCTTTTTGATGACCTTGAGCCCAAAATGGACATAAGTTAAATCCAAAGCTCTATCACCTTCCATCTCAGTGCGGCTGTTCTCGGAGCTCTCTGCTTTGCTCCCAGCATCGGGAGACTTTGACTTGATGCTTTCGGCTTGACTATTGGCCGGGGAGAGTGCCTGGAAGGATGTGGTTTCCAGGATATCTGGGCTTCGGCTCTGATACTCCTGGTCTCCCATCAGCGAGGATGAGTCGTTGGTCAAGCCATCGCTCTCCACGGAACCGT... | TAGAAGGGGCTGCTTCAAGTCATACTCTCCGTTTGTAAAGTTCAACCCAGGCTCCTTTTTGATGACCTTGAGCCCAAAATGGACATAAGTTAAATCCAAAGCTCTATCACCTTCCATCTCAGTGCGGCTGTTCTCGGAGCTCTCTGCTTTGCTCCCAGCATCGGGAGACTTTGACTTGATGCTTTCGGCTTGACTATTGGCCGGGGAGAGTGCCTGGAAGGATGTGGTTTCCAGGATATCTGGGCTTCGGCTCTGATACTCCTGGTCTCCCATCAGCGAGGATGAGTCGTTGGTCAAGCCATCGCTCTCCACGGAACCGT... | pathogenic | 314,863 |
Is chromosome 20, position 51792353, gene SALL4 (spalt like transcription factor 4) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Duane-radial_ray_syndrome', 'Oculootoradial_syndrome'] | CATGGCAAACCCTAGCGTGGGTGATGCCGAGTGGATGCTGGGAAGAGGCGTGGGGACCTTGGAGGAGCTGCTGGGAGCCTCCTGGGAGCTGACTTCCTCTACATCGATGCTTTCGATGACATCATCATGGCAGATAGCGCCGGTGCTGCCGTTCTCACCCACGGTCATTGGCTCAGAACCCGTAAAGTCACAGGGATTCTCTGGCAGGGGCGTGTTGGGAATCTGACCGCCCATGTGCATCCGAATATGTTGCTGCAGCATCACGGCATTAGTGAACTTCTTCTGGCAGATGGGGCACGAATGCTGCGTCTTAATGGATG... | CATGGCAAACCCTAGCGTGGGTGATGCCGAGTGGATGCTGGGAAGAGGCGTGGGGACCTTGGAGGAGCTGCTGGGAGCCTCCTGGGAGCTGACTTCCTCTACATCGATGCTTTCGATGACATCATCATGGCAGATAGCGCCGGTGCTGCCGTTCTCACCCACGGTCATTGGCTCAGAACCCGTAAAGTCACAGGGATTCTCTGGCAGGGGCGTGTTGGGAATCTGACCGCCCATGTGCATCCGAATATGTTGCTGCAGCATCACGGCATTAGTGAACTTCTTCTGGCAGATGGGGCACGAATGCTGCGTCTTAATGGATG... | pathogenic | 314,868 |
A genetic variant on chromosome 20, position 54157436, affects the gene CYP24A1 (cytochrome P450 family 24 subfamily A member 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hypercalcemia,_infantile,_1'] | ATCCGGGTTTAAACACCGACATGTCAGCCTATAAAGCCATATGTTACAAATGTCTTATTTCCACCACCAGGGGTGGTGGCTCACACTTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATAATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTGTGCACCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCATGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCATTGCACTCCA... | ATCCGGGTTTAAACACCGACATGTCAGCCTATAAAGCCATATGTTACAAATGTCTTATTTCCACCACCAGGGGTGGTGGCTCACACTTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATAATGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTGTGCACCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCATGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCACCATTGCACTCCA... | pathogenic | 314,894 |
Chromosome 20, position 54165795, gene CYP24A1 (cytochrome P450 family 24 subfamily A member 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hypercalcemia,_infantile,_1'] | ATGTTAACTGTAATCTGTAGTAGACCCAGAAACAGTTACATTGAGGTAGGTTCTCTTATTATTATTATTAATTATTAGTCCATTTTAGAGACAAGGCAACTGAGGATGAAAAGGTGATTGCACATTTGGCCAAGCCACCACAACCAGTGACAGAGCTGAACTTGAACTCAGGAGTCCCTGACTCTATAAATTTTACTTTTTTATTTTGAGATGGAGTCTCACTCTGCCTCCCAAGATGGAGTGCAGTGGCTCAGTCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAG... | ATGTTAACTGTAATCTGTAGTAGACCCAGAAACAGTTACATTGAGGTAGGTTCTCTTATTATTATTATTAATTATTAGTCCATTTTAGAGACAAGGCAACTGAGGATGAAAAGGTGATTGCACATTTGGCCAAGCCACCACAACCAGTGACAGAGCTGAACTTGAACTCAGGAGTCCCTGACTCTATAAATTTTACTTTTTTATTTTGAGATGGAGTCTCACTCTGCCTCCCAAGATGGAGTGCAGTGGCTCAGTCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAG... | pathogenic | 314,921 |
Variant in gene CYP24A1 (cytochrome P450 family 24 subfamily A member 1), located at chromosome 20 position 54172927: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hypercalcemia,_infantile,_1'] | AAAGAGATTACTTTATGCTTAAAACTCCCTTTGACTCCGTGCTGGCTAAGGGATAATGTCCAAATACCTTAGTATAATACAAAAATATTGTTAAGACCTATCCAGTATCATTTCAGAGAAAGCCTCACATCAGCTACACTAAATGACCGATTCTCTGAACACACCACGTCATTTCATGCCTCCCTGTTTTCAGAAGGCTACTCTGTCTGCCTTAATGCCTTCCCCCACTTTCTCTGCTTTCAGACTCCTCCTGCAAAACCCAGCTCAAATATCACTACTTAAGAACTTTACAATGTTATCTCATTTAATTCTCACAGCAA... | AAAGAGATTACTTTATGCTTAAAACTCCCTTTGACTCCGTGCTGGCTAAGGGATAATGTCCAAATACCTTAGTATAATACAAAAATATTGTTAAGACCTATCCAGTATCATTTCAGAGAAAGCCTCACATCAGCTACACTAAATGACCGATTCTCTGAACACACCACGTCATTTCATGCCTCCCTGTTTTCAGAAGGCTACTCTGTCTGCCTTAATGCCTTCCCCCACTTTCTCTGCTTTCAGACTCCTCCTGCAAAACCCAGCTCAAATATCACTACTTAAGAACTTTACAATGTTATCTCATTTAATTCTCACAGCAA... | pathogenic | 314,940 |
A mutation at chromosome position 54173517 on chromosome 20 in gene CYP24A1 (cytochrome P450 family 24 subfamily A member 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hypercalcemia,_infantile,_1', 'Inborn_genetic_diseases'] | CCCGAATTGCATTCTTTTTTCCTTTGTTCTTTGTAGCTGTGACTTGAAGCTCCACCAATATCCCTATGTCCCCACGAGCCCCAGGAAAGCTGGCCCCAGCCTGCAGACCTCATTGATTTTGTTGTCCAGCTTCATCACTTCCCCTGGTTTCATTAGTTTCTTTTGAAAGGCACTCCGGACCCGCTGCCAGTCTTCCCCTTCCCTGTGAGAGAAGCAGGAATACATTTAGAGCACACTGAAAAGAAAAGAAGGAGATGCAGAAATACTCCAGCTGCAACTTCAGGAACCATAAAATCAAACAAACACTGAGAATCATGCCA... | CCCGAATTGCATTCTTTTTTCCTTTGTTCTTTGTAGCTGTGACTTGAAGCTCCACCAATATCCCTATGTCCCCACGAGCCCCAGGAAAGCTGGCCCCAGCCTGCAGACCTCATTGATTTTGTTGTCCAGCTTCATCACTTCCCCTGGTTTCATTAGTTTCTTTTGAAAGGCACTCCGGACCCGCTGCCAGTCTTCCCCTTCCCTGTGAGAGAAGCAGGAATACATTTAGAGCACACTGAAAAGAAAAGAAGGAGATGCAGAAATACTCCAGCTGCAACTTCAGGAACCATAAAATCAAACAAACACTGAGAATCATGCCA... | pathogenic | 314,951 |
Determine whether the variant at chromosome 20, position 58389302, in gene VAPB is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GCAAGCAAGCCAAAATATCTGTCAAGAACAAGGGCAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGCGGCTGAAGCAGGAGGATCACTTGAGCCCAGGAGTTTGAAACCAGCCTGGGCAACATAGTGAGATTTTACAGAAAATAAAAAAATTAGCTGGGCGTGGTGGTGCATGCTTTTAGTCCCAGCTACACCGGAGTCTGAGGTGGGAGGATTGTTTCAGCCTGGGAGATACAGGTTGCAGTGAGCCACGATCATGCCACTGCACTCCAGCATGGGCAACAGAGCAAGACCTCATCTCCAAATAAA... | GCAAGCAAGCCAAAATATCTGTCAAGAACAAGGGCAAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGCGGCTGAAGCAGGAGGATCACTTGAGCCCAGGAGTTTGAAACCAGCCTGGGCAACATAGTGAGATTTTACAGAAAATAAAAAAATTAGCTGGGCGTGGTGGTGCATGCTTTTAGTCCCAGCTACACCGGAGTCTGAGGTGGGAGGATTGTTTCAGCCTGGGAGATACAGGTTGCAGTGAGCCACGATCATGCCACTGCACTCCAGCATGGGCAACAGAGCAAGACCTCATCTCCAAATAAA... | benign | 315,018 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 58676941, gene STX16. What disease(s) is it linked to if pathogenic? | benign | CAGATAAAAGGAAAAGCTTTCTCTGCGGGAGTGAGCAAATCTAGTGGGAACTAAAAATTTTGTTTTAGGTTCTACTTTATAAATCATTTTGAGAGGTTTTACAGTATATTATTTAGTATTGGCTTCCCTGGTGTTCTGGGTTACTTATTAGAAAAGTCAGCGTGCTCCATCTTCCCTCCAGCCACAAGGCTGTAGGCAGCACGCGCGTGCTCGGCAGTCGGCTAGTCTAAGGGTGATTGAGCGTCGGGAGCTGCTCCCCATGACCGGACTCTCGGTGCTGTCCCCGTGCCTGATGTTTCCTCCTGGTGGATGAGGGGCTC... | CAGATAAAAGGAAAAGCTTTCTCTGCGGGAGTGAGCAAATCTAGTGGGAACTAAAAATTTTGTTTTAGGTTCTACTTTATAAATCATTTTGAGAGGTTTTACAGTATATTATTTAGTATTGGCTTCCCTGGTGTTCTGGGTTACTTATTAGAAAAGTCAGCGTGCTCCATCTTCCCTCCAGCCACAAGGCTGTAGGCAGCACGCGCGTGCTCGGCAGTCGGCTAGTCTAAGGGTGATTGAGCGTCGGGAGCTGCTCCCCATGACCGGACTCTCGGTGCTGTCCCCGTGCCTGATGTTTCCTCCTGGTGGATGAGGGGCTC... | benign | 315,076 |
A genetic alteration at chromosome 20, position 58854492, in gene GNAS (GNAS complex locus)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | CCTGCGCCCCTTCCCAGGCACCAAAAGCCTTGCGCTCCGGACTAGGGGCTTGAGATCCGGGGCTGCCTGGAGGCTGGGGGCTATGACTCAGAGTTTCAGGGGTATCCTGGGGTGATGAAATCCTTCTTCAGTCCCCCCTCCCCCGAGGAGTCGGTTGGGTTGGGGAGGGAGGGTTTCAGCTCCTGTACTCCAGCGTTCCGAGGCCCACGTCTTGCGTCACGTGTCCCGCAACGCAGGAGCGCTTTCTCTGGCCAGCGGAGAAGCGAGGAGAAAGACTCCAAATCAGTCAGGGAGAGGAGTGGAAGGAGCCAAAACGTCCC... | CCTGCGCCCCTTCCCAGGCACCAAAAGCCTTGCGCTCCGGACTAGGGGCTTGAGATCCGGGGCTGCCTGGAGGCTGGGGGCTATGACTCAGAGTTTCAGGGGTATCCTGGGGTGATGAAATCCTTCTTCAGTCCCCCCTCCCCCGAGGAGTCGGTTGGGTTGGGGAGGGAGGGTTTCAGCTCCTGTACTCCAGCGTTCCGAGGCCCACGTCTTGCGTCACGTGTCCCGCAACGCAGGAGCGCTTTCTCTGGCCAGCGGAGAAGCGAGGAGAAAGACTCCAAATCAGTCAGGGAGAGGAGTGGAAGGAGCCAAAACGTCCC... | benign | 315,101 |
Gene GNAS (GNAS complex locus) variant at chromosome 20, position 58891706—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | TCCCTTTTTCGTTTGCTCATCCTTTTTGGCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGG... | TCCCTTTTTCGTTTGCTCATCCTTTTTGGCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGG... | benign | 315,114 |
Gene mutation in GNAS (GNAS complex locus) at chromosome 20, position 58891706—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TCCCTTTTTCGTTTGCTCATCCTTTTTGGCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGG... | TCCCTTTTTCGTTTGCTCATCCTTTTTGGCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGG... | benign | 315,115 |
Considering the variant on chromosome 20, location 58891722, involving gene GNAS (GNAS complex locus), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Disorders_of_GNAS_Inactivation'] | TCATCCTTTTTGGCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGC... | TCATCCTTTTTGGCGCTAACTCTTAGGCAGCCAGCCCAGCAGCCCGAAGCCCGGGCAGCCGCGCTCCGCGGCCCCGGGGCAGCGCGGCGGGAACCGCAGCCAAGCCCCCCGACACGGGGCGCACGGGGGCCGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGC... | pathogenic | 315,116 |
Evaluate if the mutation on chromosome 20 at position 58891852 in GNAS (GNAS complex locus) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['GNAS-related_disorder', 'Pseudohypoparathyroidism_type_I_A'] | CGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCGAG... | CGGGCAGCCCGAGGCCGGGGGCAAGCAGGGAGCCCGGGCCAGGCGCGAGCCGAGCTCCCCGAGGTGGCCGGGCCACCATGCTGAAGATGGCCATGAAGCTCAAAGCCCGGGCGGCGGAGAGCGAGAAGAAGACGGCCGCGGCGGCTGCCGAGGTGGCTGCCGAAGCTGCGGCGGCGGCTGCGGCGTTGGCCGAGCCGAGAGAGCCGCTCGCGCCGCGGAAGAGCGGGGACCCCGAGAAGCTCGCGAAGAACCCCAAGAACCCGGCGCGGGAGGCGCTCCCCGAAAAGTTCCTAACAGACAAGGAGCGCAAGAAGCTCGAG... | pathogenic | 315,130 |
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