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 |
|---|---|---|---|---|---|
The chromosome 17, position 35119114 genetic variant in gene RAD51D: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | AAGGCCAATCGGCTTCCTGTTCACCACTCCCTCCTTACCGTTGCCTCCCTCGGTGCTTACAGCTCTCTTGTATTCACTTGATTTTCCCCTACACCCAACTAGAGGCCTTAAGGGCAGGGGCCTTGCCTCATTCGTGTATGTATCATCTGCACATACCAAGCACCCAGCAGGCCCTTAGCCAGTGCTTGATGGATCACAGACTCAGACCCCCAACCAGGGAAAGCAAGCACCACACTGCATGAACCCTGCCAAGAGAATGTGTTAAGGAAACAGAAAGGGCCACACCAATCCAAAGACCTTTATGGTGGCAGTTATTCATC... | AAGGCCAATCGGCTTCCTGTTCACCACTCCCTCCTTACCGTTGCCTCCCTCGGTGCTTACAGCTCTCTTGTATTCACTTGATTTTCCCCTACACCCAACTAGAGGCCTTAAGGGCAGGGGCCTTGCCTCATTCGTGTATGTATCATCTGCACATACCAAGCACCCAGCAGGCCCTTAGCCAGTGCTTGATGGATCACAGACTCAGACCCCCAACCAGGGAAAGCAAGCACCACACTGCATGAACCCTGCCAAGAGAATGTGTTAAGGAAACAGAAAGGGCCACACCAATCCAAAGACCTTTATGGTGGCAGTTATTCATC... | pathogenic | 269,896 |
Variant at chromosome position 35119145, chromosome 17, gene RAD51D: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4'] | TCCTTACCGTTGCCTCCCTCGGTGCTTACAGCTCTCTTGTATTCACTTGATTTTCCCCTACACCCAACTAGAGGCCTTAAGGGCAGGGGCCTTGCCTCATTCGTGTATGTATCATCTGCACATACCAAGCACCCAGCAGGCCCTTAGCCAGTGCTTGATGGATCACAGACTCAGACCCCCAACCAGGGAAAGCAAGCACCACACTGCATGAACCCTGCCAAGAGAATGTGTTAAGGAAACAGAAAGGGCCACACCAATCCAAAGACCTTTATGGTGGCAGTTATTCATCAATTTCTGAACAAACAGACCAGGAAAAAGGT... | TCCTTACCGTTGCCTCCCTCGGTGCTTACAGCTCTCTTGTATTCACTTGATTTTCCCCTACACCCAACTAGAGGCCTTAAGGGCAGGGGCCTTGCCTCATTCGTGTATGTATCATCTGCACATACCAAGCACCCAGCAGGCCCTTAGCCAGTGCTTGATGGATCACAGACTCAGACCCCCAACCAGGGAAAGCAAGCACCACACTGCATGAACCCTGCCAAGAGAATGTGTTAAGGAAACAGAAAGGGCCACACCAATCCAAAGACCTTTATGGTGGCAGTTATTCATCAATTTCTGAACAAACAGACCAGGAAAAAGGT... | pathogenic | 269,903 |
A genetic alteration at chromosome 17, position 35119159, in gene RAD51D—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | TCCCTCGGTGCTTACAGCTCTCTTGTATTCACTTGATTTTCCCCTACACCCAACTAGAGGCCTTAAGGGCAGGGGCCTTGCCTCATTCGTGTATGTATCATCTGCACATACCAAGCACCCAGCAGGCCCTTAGCCAGTGCTTGATGGATCACAGACTCAGACCCCCAACCAGGGAAAGCAAGCACCACACTGCATGAACCCTGCCAAGAGAATGTGTTAAGGAAACAGAAAGGGCCACACCAATCCAAAGACCTTTATGGTGGCAGTTATTCATCAATTTCTGAACAAACAGACCAGGAAAAAGGTCAAGACTCACTTGG... | TCCCTCGGTGCTTACAGCTCTCTTGTATTCACTTGATTTTCCCCTACACCCAACTAGAGGCCTTAAGGGCAGGGGCCTTGCCTCATTCGTGTATGTATCATCTGCACATACCAAGCACCCAGCAGGCCCTTAGCCAGTGCTTGATGGATCACAGACTCAGACCCCCAACCAGGGAAAGCAAGCACCACACTGCATGAACCCTGCCAAGAGAATGTGTTAAGGAAACAGAAAGGGCCACACCAATCCAAAGACCTTTATGGTGGCAGTTATTCATCAATTTCTGAACAAACAGACCAGGAAAAAGGTCAAGACTCACTTGG... | pathogenic | 269,905 |
A genetic variant on chromosome 17, position 35119169, affects the gene RAD51D. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | CTTACAGCTCTCTTGTATTCACTTGATTTTCCCCTACACCCAACTAGAGGCCTTAAGGGCAGGGGCCTTGCCTCATTCGTGTATGTATCATCTGCACATACCAAGCACCCAGCAGGCCCTTAGCCAGTGCTTGATGGATCACAGACTCAGACCCCCAACCAGGGAAAGCAAGCACCACACTGCATGAACCCTGCCAAGAGAATGTGTTAAGGAAACAGAAAGGGCCACACCAATCCAAAGACCTTTATGGTGGCAGTTATTCATCAATTTCTGAACAAACAGACCAGGAAAAAGGTCAAGACTCACTTGGCCAGCAAACG... | CTTACAGCTCTCTTGTATTCACTTGATTTTCCCCTACACCCAACTAGAGGCCTTAAGGGCAGGGGCCTTGCCTCATTCGTGTATGTATCATCTGCACATACCAAGCACCCAGCAGGCCCTTAGCCAGTGCTTGATGGATCACAGACTCAGACCCCCAACCAGGGAAAGCAAGCACCACACTGCATGAACCCTGCCAAGAGAATGTGTTAAGGAAACAGAAAGGGCCACACCAATCCAAAGACCTTTATGGTGGCAGTTATTCATCAATTTCTGAACAAACAGACCAGGAAAAAGGTCAAGACTCACTTGGCCAGCAAACG... | pathogenic | 269,906 |
Mutation found at chromosome 17 position 35119532, gene RAD51D: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | GCGGGACATAACTGCTCCTTTTTTTTGAGAGAGTCTCGCTCTGCCACCAAGGCTGGAGTGCAGTGGTGCGATCTTGGCCTACTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCTGCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGACTAATTTTTGTATGTTTAGTAGAGACGGGGTTTCATCATTTTGGGCGGGCAAGCAGGCCAGGCAGGTCTCAAACTCCCGGCCTCCAGTGATCTGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCACTGCATCTGGACCGC... | GCGGGACATAACTGCTCCTTTTTTTTGAGAGAGTCTCGCTCTGCCACCAAGGCTGGAGTGCAGTGGTGCGATCTTGGCCTACTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCTGCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGACTAATTTTTGTATGTTTAGTAGAGACGGGGTTTCATCATTTTGGGCGGGCAAGCAGGCCAGGCAGGTCTCAAACTCCCGGCCTCCAGTGATCTGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCACTGCATCTGGACCGC... | pathogenic | 269,918 |
Clinical classification of chromosome 17, position 35119562, gene RAD51D: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | GAGTCTCGCTCTGCCACCAAGGCTGGAGTGCAGTGGTGCGATCTTGGCCTACTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCTGCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGACTAATTTTTGTATGTTTAGTAGAGACGGGGTTTCATCATTTTGGGCGGGCAAGCAGGCCAGGCAGGTCTCAAACTCCCGGCCTCCAGTGATCTGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCACTGCATCTGGACCGCAACTCCTTCTTTCTCTGAACTCTCCTGTTC... | GAGTCTCGCTCTGCCACCAAGGCTGGAGTGCAGTGGTGCGATCTTGGCCTACTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCTGCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGACTAATTTTTGTATGTTTAGTAGAGACGGGGTTTCATCATTTTGGGCGGGCAAGCAGGCCAGGCAGGTCTCAAACTCCCGGCCTCCAGTGATCTGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCACTGCATCTGGACCGCAACTCCTTCTTTCTCTGAACTCTCCTGTTC... | pathogenic | 269,923 |
Gene RAD51D variant at chromosome 17, position 35119587—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | GAGTGCAGTGGTGCGATCTTGGCCTACTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCTGCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGACTAATTTTTGTATGTTTAGTAGAGACGGGGTTTCATCATTTTGGGCGGGCAAGCAGGCCAGGCAGGTCTCAAACTCCCGGCCTCCAGTGATCTGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCACTGCATCTGGACCGCAACTCCTTCTTTCTCTGAACTCTCCTGTTCTCTACTGCTGCAGATGTGGTGAATA... | GAGTGCAGTGGTGCGATCTTGGCCTACTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCTGCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGACTAATTTTTGTATGTTTAGTAGAGACGGGGTTTCATCATTTTGGGCGGGCAAGCAGGCCAGGCAGGTCTCAAACTCCCGGCCTCCAGTGATCTGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCACTGCATCTGGACCGCAACTCCTTCTTTCTCTGAACTCTCCTGTTCTCTACTGCTGCAGATGTGGTGAATA... | pathogenic | 269,931 |
Is the variant located on chromosome 17 at position 35119600, gene RAD51D, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4'] | CGATCTTGGCCTACTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCTGCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGACTAATTTTTGTATGTTTAGTAGAGACGGGGTTTCATCATTTTGGGCGGGCAAGCAGGCCAGGCAGGTCTCAAACTCCCGGCCTCCAGTGATCTGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCACTGCATCTGGACCGCAACTCCTTCTTTCTCTGAACTCTCCTGTTCTCTACTGCTGCAGATGTGGTGAATAAGTTCTGGGCCAC... | CGATCTTGGCCTACTGCAACCTCCACCTCCCACATTCAAGCAATTCTCCTGCTGCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGACTAATTTTTGTATGTTTAGTAGAGACGGGGTTTCATCATTTTGGGCGGGCAAGCAGGCCAGGCAGGTCTCAAACTCCCGGCCTCCAGTGATCTGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCACTGCATCTGGACCGCAACTCCTTCTTTCTCTGAACTCTCCTGTTCTCTACTGCTGCAGATGTGGTGAATAAGTTCTGGGCCAC... | pathogenic | 269,933 |
Located at chromosome 17 position 35575812, the variant affecting gene PEX12 (peroxisomal biogenesis factor 12)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Peroxisome_biogenesis_disorder_3A_(Zellweger)', 'Peroxisome_biogenesis_disorder_type_3B'] | TGGTTTTTCCACACAGGTGTGTTGTATCCTGTTTGGACACTGGTTTTATTATGTTTAAGATGTTTCTTTTATTTTCTTTTGAATTACTGATATTCTCATGTTTTCCTCCTTAGGTTGAGATGAAAACTCTTGCTTTGAATTCTTCATGGAGGACTACATCATTTCAATCCTGAATCTGGCTCAATTCTATTATTCACTTATTACTGTATTAAAAACGTTTAATTGGCCAGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCA... | TGGTTTTTCCACACAGGTGTGTTGTATCCTGTTTGGACACTGGTTTTATTATGTTTAAGATGTTTCTTTTATTTTCTTTTGAATTACTGATATTCTCATGTTTTCCTCCTTAGGTTGAGATGAAAACTCTTGCTTTGAATTCTTCATGGAGGACTACATCATTTCAATCCTGAATCTGGCTCAATTCTATTATTCACTTATTACTGTATTAAAAACGTTTAATTGGCCAGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCA... | pathogenic | 270,022 |
A mutation at chromosome position 35575873 on chromosome 17 in gene PEX12 (peroxisomal biogenesis factor 12): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_3A_(Zellweger)', 'Peroxisome_biogenesis_disorder_type_3B'] | GTTTCTTTTATTTTCTTTTGAATTACTGATATTCTCATGTTTTCCTCCTTAGGTTGAGATGAAAACTCTTGCTTTGAATTCTTCATGGAGGACTACATCATTTCAATCCTGAATCTGGCTCAATTCTATTATTCACTTATTACTGTATTAAAAACGTTTAATTGGCCAGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCAC... | GTTTCTTTTATTTTCTTTTGAATTACTGATATTCTCATGTTTTCCTCCTTAGGTTGAGATGAAAACTCTTGCTTTGAATTCTTCATGGAGGACTACATCATTTCAATCCTGAATCTGGCTCAATTCTATTATTCACTTATTACTGTATTAAAAACGTTTAATTGGCCAGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCAC... | pathogenic | 270,024 |
Does the variant on chromosome 17 at location 35575891 affecting gene PEX12 (peroxisomal biogenesis factor 12) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Peroxisome_biogenesis_disorder_3A_(Zellweger)'] | TGAATTACTGATATTCTCATGTTTTCCTCCTTAGGTTGAGATGAAAACTCTTGCTTTGAATTCTTCATGGAGGACTACATCATTTCAATCCTGAATCTGGCTCAATTCTATTATTCACTTATTACTGTATTAAAAACGTTTAATTGGCCAGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTT... | TGAATTACTGATATTCTCATGTTTTCCTCCTTAGGTTGAGATGAAAACTCTTGCTTTGAATTCTTCATGGAGGACTACATCATTTCAATCCTGAATCTGGCTCAATTCTATTATTCACTTATTACTGTATTAAAAACGTTTAATTGGCCAGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTT... | pathogenic | 270,025 |
Gene mutation in PEX12 (peroxisomal biogenesis factor 12) at chromosome 17, position 35575897—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Peroxisome_biogenesis_disorder_3A_(Zellweger)', 'Peroxisome_biogenesis_disorder_type_3B'] | ACTGATATTCTCATGTTTTCCTCCTTAGGTTGAGATGAAAACTCTTGCTTTGAATTCTTCATGGAGGACTACATCATTTCAATCCTGAATCTGGCTCAATTCTATTATTCACTTATTACTGTATTAAAAACGTTTAATTGGCCAGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGG... | ACTGATATTCTCATGTTTTCCTCCTTAGGTTGAGATGAAAACTCTTGCTTTGAATTCTTCATGGAGGACTACATCATTTCAATCCTGAATCTGGCTCAATTCTATTATTCACTTATTACTGTATTAAAAACGTTTAATTGGCCAGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGG... | pathogenic | 270,026 |
Regarding the variant found on chromosome 17 at position 35575940 in gene PEX12 (peroxisomal biogenesis factor 12): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Peroxisome_biogenesis_disorder_3A_(Zellweger)'] | CTTGCTTTGAATTCTTCATGGAGGACTACATCATTTCAATCCTGAATCTGGCTCAATTCTATTATTCACTTATTACTGTATTAAAAACGTTTAATTGGCCAGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCA... | CTTGCTTTGAATTCTTCATGGAGGACTACATCATTTCAATCCTGAATCTGGCTCAATTCTATTATTCACTTATTACTGTATTAAAAACGTTTAATTGGCCAGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCA... | pathogenic | 270,028 |
Evaluate if the mutation on chromosome 17 at position 35575950 in PEX12 (peroxisomal biogenesis factor 12) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_3A_(Zellweger)'] | ATTCTTCATGGAGGACTACATCATTTCAATCCTGAATCTGGCTCAATTCTATTATTCACTTATTACTGTATTAAAAACGTTTAATTGGCCAGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAG... | ATTCTTCATGGAGGACTACATCATTTCAATCCTGAATCTGGCTCAATTCTATTATTCACTTATTACTGTATTAAAAACGTTTAATTGGCCAGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAG... | pathogenic | 270,029 |
The mutation in gene PEX12 (peroxisomal biogenesis factor 12) at chromosome 17, position 35575967—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['PEX12-related_disorder', 'Peroxisome_biogenesis_disorder_3A_(Zellweger)', 'Peroxisome_biogenesis_disorder_type_3B'] | ACATCATTTCAATCCTGAATCTGGCTCAATTCTATTATTCACTTATTACTGTATTAAAAACGTTTAATTGGCCAGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTC... | ACATCATTTCAATCCTGAATCTGGCTCAATTCTATTATTCACTTATTACTGTATTAAAAACGTTTAATTGGCCAGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTC... | pathogenic | 270,030 |
Variant in PEX12 (peroxisomal biogenesis factor 12), chromosome 17, position 35575972—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Inborn_genetic_diseases', 'PEX12-related_disorder', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_3A_(Zellweger)', 'Peroxisome_biogenesis_disorder_type_3B'] | ATTTCAATCCTGAATCTGGCTCAATTCTATTATTCACTTATTACTGTATTAAAAACGTTTAATTGGCCAGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCAAGCC... | ATTTCAATCCTGAATCTGGCTCAATTCTATTATTCACTTATTACTGTATTAAAAACGTTTAATTGGCCAGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCAAGCC... | pathogenic | 270,031 |
Variant in PEX12 (peroxisomal biogenesis factor 12), chromosome 17, position 35575974—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Peroxisome_biogenesis_disorder_3A_(Zellweger)'] | TTCAATCCTGAATCTGGCTCAATTCTATTATTCACTTATTACTGTATTAAAAACGTTTAATTGGCCAGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCAAGCCTT... | TTCAATCCTGAATCTGGCTCAATTCTATTATTCACTTATTACTGTATTAAAAACGTTTAATTGGCCAGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCAAGCCTT... | pathogenic | 270,032 |
Evaluate if the mutation on chromosome 17 at position 35576019 in PEX12 (peroxisomal biogenesis factor 12) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Peroxisome_biogenesis_disorder_3A_(Zellweger)'] | ATTAAAAACGTTTAATTGGCCAGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCAAGCCTTGGCATCAGAGTGAGACTCTGTCTCAGTAAAAAAAAAATAAATAAA... | ATTAAAAACGTTTAATTGGCCAGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCAAGCCTTGGCATCAGAGTGAGACTCTGTCTCAGTAAAAAAAAAATAAATAAA... | pathogenic | 270,034 |
Regarding the variant at chromosome 17 and position 35576053, affecting gene PEX12 (peroxisomal biogenesis factor 12): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Peroxisome_biogenesis_disorder_3A_(Zellweger)', 'Peroxisome_biogenesis_disorder_type_3B'] | CACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCAAGCCTTGGCATCAGAGTGAGACTCTGTCTCAGTAAAAAAAAAATAAATAAATAAAAATGTTTAATTAACCATGATATTTGCTTTG... | CACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCAAGCCTTGGCATCAGAGTGAGACTCTGTCTCAGTAAAAAAAAAATAAATAAATAAAAATGTTTAATTAACCATGATATTTGCTTTG... | pathogenic | 270,035 |
The genetic variant at chromosome 17, position 35576080, affecting gene PEX12 (peroxisomal biogenesis factor 12): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Peroxisome_biogenesis_disorder_3A_(Zellweger)', 'Peroxisome_biogenesis_disorder_type_3B'] | GGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCAAGCCTTGGCATCAGAGTGAGACTCTGTCTCAGTAAAAAAAAAATAAATAAATAAAAATGTTTAATTAACCATGATATTTGCTTTGGTAAAACCTTTGAGGTTTAATGAGAAT... | GGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCAAGCCTTGGCATCAGAGTGAGACTCTGTCTCAGTAAAAAAAAAATAAATAAATAAAAATGTTTAATTAACCATGATATTTGCTTTGGTAAAACCTTTGAGGTTTAATGAGAAT... | pathogenic | 270,037 |
Chromosome 17, position 35576090, gene PEX12 (peroxisomal biogenesis factor 12): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Peroxisome_biogenesis_disorder_3A_(Zellweger)', 'Peroxisome_biogenesis_disorder_type_3B'] | GGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCAAGCCTTGGCATCAGAGTGAGACTCTGTCTCAGTAAAAAAAAAATAAATAAATAAAAATGTTTAATTAACCATGATATTTGCTTTGGTAAAACCTTTGAGGTTTAATGAGAATTTTAAAATTC... | GGCGGATCACTTGAGGTCAGGAGTTCGACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCAAGCCTTGGCATCAGAGTGAGACTCTGTCTCAGTAAAAAAAAAATAAATAAATAAAAATGTTTAATTAACCATGATATTTGCTTTGGTAAAACCTTTGAGGTTTAATGAGAATTTTAAAATTC... | pathogenic | 270,038 |
Located at chromosome 17 position 35576117, the variant affecting gene PEX12 (peroxisomal biogenesis factor 12)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_3A_(Zellweger)', 'Peroxisome_biogenesis_disorder_type_3B'] | ACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCAAGCCTTGGCATCAGAGTGAGACTCTGTCTCAGTAAAAAAAAAATAAATAAATAAAAATGTTTAATTAACCATGATATTTGCTTTGGTAAAACCTTTGAGGTTTAATGAGAATTTTAAAATTCATTATACTTTTCTTATGGCATATAAAA... | ACACCAGCCTGGCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCAAGCCTTGGCATCAGAGTGAGACTCTGTCTCAGTAAAAAAAAAATAAATAAATAAAAATGTTTAATTAACCATGATATTTGCTTTGGTAAAACCTTTGAGGTTTAATGAGAATTTTAAAATTCATTATACTTTTCTTATGGCATATAAAA... | pathogenic | 270,039 |
Variant on chromosome 17, at position 35576128, affecting PEX12 (peroxisomal biogenesis factor 12): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['PEX12-related_disorder', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_3A_(Zellweger)', 'Peroxisome_biogenesis_disorder_type_3B'] | GCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCAAGCCTTGGCATCAGAGTGAGACTCTGTCTCAGTAAAAAAAAAATAAATAAATAAAAATGTTTAATTAACCATGATATTTGCTTTGGTAAAACCTTTGAGGTTTAATGAGAATTTTAAAATTCATTATACTTTTCTTATGGCATATAAAAGTTTTAATTTT... | GCCAACATGGCAAAACCCCGCCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCAAGCCTTGGCATCAGAGTGAGACTCTGTCTCAGTAAAAAAAAAATAAATAAATAAAAATGTTTAATTAACCATGATATTTGCTTTGGTAAAACCTTTGAGGTTTAATGAGAATTTTAAAATTCATTATACTTTTCTTATGGCATATAAAAGTTTTAATTTT... | pathogenic | 270,040 |
The genetic variant at chromosome 17, position 35576174, affecting gene PEX12 (peroxisomal biogenesis factor 12): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Peroxisome_biogenesis_disorder_3A_(Zellweger)', 'Peroxisome_biogenesis_disorder_type_3B'] | CAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCAAGCCTTGGCATCAGAGTGAGACTCTGTCTCAGTAAAAAAAAAATAAATAAATAAAAATGTTTAATTAACCATGATATTTGCTTTGGTAAAACCTTTGAGGTTTAATGAGAATTTTAAAATTCATTATACTTTTCTTATGGCATATAAAAGTTTTAATTTTTTTTATTGTCTCAACTAACATCATAAATGTCTTAATGTTAAAATCC... | CAGGCGTGGTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCAAGCCTTGGCATCAGAGTGAGACTCTGTCTCAGTAAAAAAAAAATAAATAAATAAAAATGTTTAATTAACCATGATATTTGCTTTGGTAAAACCTTTGAGGTTTAATGAGAATTTTAAAATTCATTATACTTTTCTTATGGCATATAAAAGTTTTAATTTTTTTTATTGTCTCAACTAACATCATAAATGTCTTAATGTTAAAATCC... | pathogenic | 270,042 |
Chromosome 17, position 35576182, gene PEX12 (peroxisomal biogenesis factor 12): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCAAGCCTTGGCATCAGAGTGAGACTCTGTCTCAGTAAAAAAAAAATAAATAAATAAAAATGTTTAATTAACCATGATATTTGCTTTGGTAAAACCTTTGAGGTTTAATGAGAATTTTAAAATTCATTATACTTTTCTTATGGCATATAAAAGTTTTAATTTTTTTTATTGTCTCAACTAACATCATAAATGTCTTAATGTTAAAATCCATGGGATA... | GTGGCACGCACCTGTAATCACAGCTACTTAGGAGGCTGAGGTGGCAGAATTGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCAAGCCTTGGCATCAGAGTGAGACTCTGTCTCAGTAAAAAAAAAATAAATAAATAAAAATGTTTAATTAACCATGATATTTGCTTTGGTAAAACCTTTGAGGTTTAATGAGAATTTTAAAATTCATTATACTTTTCTTATGGCATATAAAAGTTTTAATTTTTTTTATTGTCTCAACTAACATCATAAATGTCTTAATGTTAAAATCCATGGGATA... | benign | 270,043 |
Variant chromosome 17, position 35577073, gene PEX12 (peroxisomal biogenesis factor 12): benign or pathogenic? Disease(s)? | pathogenic; ['Peroxisome_biogenesis_disorder_3A_(Zellweger)', 'Peroxisome_biogenesis_disorder_type_3B'] | TCATGTCTTCATTGCTTGTTAGCTTTGCTTTTACACAGGAATCTTCAGACTACTCTCTGTAACACTCAACCCCTATTCCTTTTTTAACCAGTTTCTCAAGAAGGATATGGAGAGCTCATAAAGGAATATCCTCAAATATCCTAAATATCCAACTTTTAAAATACCTTTTTTATCCTTAAAAGCTGATAAACAATAGATGTCACTTAACAAATGTCTCACAGTATATGGAAGGAGCTTTTTTCCCCCCCAGAGTGTTTCTAAGCATTTCTATCAAGAGCAAGTCTGCATTTCTTATCGTTTGCAAACTGATGAAATTTCCA... | TCATGTCTTCATTGCTTGTTAGCTTTGCTTTTACACAGGAATCTTCAGACTACTCTCTGTAACACTCAACCCCTATTCCTTTTTTAACCAGTTTCTCAAGAAGGATATGGAGAGCTCATAAAGGAATATCCTCAAATATCCTAAATATCCAACTTTTAAAATACCTTTTTTATCCTTAAAAGCTGATAAACAATAGATGTCACTTAACAAATGTCTCACAGTATATGGAAGGAGCTTTTTTCCCCCCCAGAGTGTTTCTAAGCATTTCTATCAAGAGCAAGTCTGCATTTCTTATCGTTTGCAAACTGATGAAATTTCCA... | pathogenic | 270,047 |
The mutation impacting PEX12 (peroxisomal biogenesis factor 12) on chromosome 17 at position 35577143: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Peroxisome_biogenesis_disorder_3A_(Zellweger)', 'Peroxisome_biogenesis_disorder_type_3B'] | CCCTATTCCTTTTTTAACCAGTTTCTCAAGAAGGATATGGAGAGCTCATAAAGGAATATCCTCAAATATCCTAAATATCCAACTTTTAAAATACCTTTTTTATCCTTAAAAGCTGATAAACAATAGATGTCACTTAACAAATGTCTCACAGTATATGGAAGGAGCTTTTTTCCCCCCCAGAGTGTTTCTAAGCATTTCTATCAAGAGCAAGTCTGCATTTCTTATCGTTTGCAAACTGATGAAATTTCCACCTTACAGACAGGCAGGTAAATGCTTTCTTTTCTAAAAAGAAGTCTTGCTACCACCTCACTGTTCACTTT... | CCCTATTCCTTTTTTAACCAGTTTCTCAAGAAGGATATGGAGAGCTCATAAAGGAATATCCTCAAATATCCTAAATATCCAACTTTTAAAATACCTTTTTTATCCTTAAAAGCTGATAAACAATAGATGTCACTTAACAAATGTCTCACAGTATATGGAAGGAGCTTTTTTCCCCCCCAGAGTGTTTCTAAGCATTTCTATCAAGAGCAAGTCTGCATTTCTTATCGTTTGCAAACTGATGAAATTTCCACCTTACAGACAGGCAGGTAAATGCTTTCTTTTCTAAAAAGAAGTCTTGCTACCACCTCACTGTTCACTTT... | pathogenic | 270,050 |
Mutation found at chromosome 17 position 35577182, gene PEX12 (peroxisomal biogenesis factor 12): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_3A_(Zellweger)', 'Peroxisome_biogenesis_disorder_type_3B'] | GAGAGCTCATAAAGGAATATCCTCAAATATCCTAAATATCCAACTTTTAAAATACCTTTTTTATCCTTAAAAGCTGATAAACAATAGATGTCACTTAACAAATGTCTCACAGTATATGGAAGGAGCTTTTTTCCCCCCCAGAGTGTTTCTAAGCATTTCTATCAAGAGCAAGTCTGCATTTCTTATCGTTTGCAAACTGATGAAATTTCCACCTTACAGACAGGCAGGTAAATGCTTTCTTTTCTAAAAAGAAGTCTTGCTACCACCTCACTGTTCACTTTATTTTTTATGCGGTCTAACCTGGGTTTTTCGTAAGAGCT... | GAGAGCTCATAAAGGAATATCCTCAAATATCCTAAATATCCAACTTTTAAAATACCTTTTTTATCCTTAAAAGCTGATAAACAATAGATGTCACTTAACAAATGTCTCACAGTATATGGAAGGAGCTTTTTTCCCCCCCAGAGTGTTTCTAAGCATTTCTATCAAGAGCAAGTCTGCATTTCTTATCGTTTGCAAACTGATGAAATTTCCACCTTACAGACAGGCAGGTAAATGCTTTCTTTTCTAAAAAGAAGTCTTGCTACCACCTCACTGTTCACTTTATTTTTTATGCGGTCTAACCTGGGTTTTTCGTAAGAGCT... | pathogenic | 270,053 |
Is the genetic change at chromosome 17, position 35577206, within gene PEX12 (peroxisomal biogenesis factor 12) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Peroxisome_biogenesis_disorder_3A_(Zellweger)'] | AAATATCCTAAATATCCAACTTTTAAAATACCTTTTTTATCCTTAAAAGCTGATAAACAATAGATGTCACTTAACAAATGTCTCACAGTATATGGAAGGAGCTTTTTTCCCCCCCAGAGTGTTTCTAAGCATTTCTATCAAGAGCAAGTCTGCATTTCTTATCGTTTGCAAACTGATGAAATTTCCACCTTACAGACAGGCAGGTAAATGCTTTCTTTTCTAAAAAGAAGTCTTGCTACCACCTCACTGTTCACTTTATTTTTTATGCGGTCTAACCTGGGTTTTTCGTAAGAGCTCCTTTATTTCTTATATTTTAAGGA... | AAATATCCTAAATATCCAACTTTTAAAATACCTTTTTTATCCTTAAAAGCTGATAAACAATAGATGTCACTTAACAAATGTCTCACAGTATATGGAAGGAGCTTTTTTCCCCCCCAGAGTGTTTCTAAGCATTTCTATCAAGAGCAAGTCTGCATTTCTTATCGTTTGCAAACTGATGAAATTTCCACCTTACAGACAGGCAGGTAAATGCTTTCTTTTCTAAAAAGAAGTCTTGCTACCACCTCACTGTTCACTTTATTTTTTATGCGGTCTAACCTGGGTTTTTCGTAAGAGCTCCTTTATTTCTTATATTTTAAGGA... | pathogenic | 270,055 |
Variant at chromosome 17, position 35577446, gene PEX12 (peroxisomal biogenesis factor 12): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['PEX12-related_disorder', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_3A_(Zellweger)', 'Peroxisome_biogenesis_disorder_type_3B'] | ACCTCACTGTTCACTTTATTTTTTATGCGGTCTAACCTGGGTTTTTCGTAAGAGCTCCTTTATTTCTTATATTTTAAGGAAAGGGATAGGCAAAAACTTGTGTACTCATTATTCTGTTTAATCTCTACACTGGCCCTCATATCCCCTGCCAGTCCTGATCCTTCTACTTTAAGCAGCTTGGTCAACTGTAAGTAGGGTTCTAGAGAGCAGGCTAAAAGGTTAGGATCAAATGGGCATATCCTTTTAAAGAAATCCATATAATCATTTAAAGTTCATATAGTTATGAATTGAGGCTGAGAAGTGTCAACTCAATACCATGC... | ACCTCACTGTTCACTTTATTTTTTATGCGGTCTAACCTGGGTTTTTCGTAAGAGCTCCTTTATTTCTTATATTTTAAGGAAAGGGATAGGCAAAAACTTGTGTACTCATTATTCTGTTTAATCTCTACACTGGCCCTCATATCCCCTGCCAGTCCTGATCCTTCTACTTTAAGCAGCTTGGTCAACTGTAAGTAGGGTTCTAGAGAGCAGGCTAAAAGGTTAGGATCAAATGGGCATATCCTTTTAAAGAAATCCATATAATCATTTAAAGTTCATATAGTTATGAATTGAGGCTGAGAAGTGTCAACTCAATACCATGC... | pathogenic | 270,060 |
Evaluate this variant at chromosome 17, position 35577457, gene PEX12 (peroxisomal biogenesis factor 12): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Peroxisome_biogenesis_disorder_3A_(Zellweger)'] | CACTTTATTTTTTATGCGGTCTAACCTGGGTTTTTCGTAAGAGCTCCTTTATTTCTTATATTTTAAGGAAAGGGATAGGCAAAAACTTGTGTACTCATTATTCTGTTTAATCTCTACACTGGCCCTCATATCCCCTGCCAGTCCTGATCCTTCTACTTTAAGCAGCTTGGTCAACTGTAAGTAGGGTTCTAGAGAGCAGGCTAAAAGGTTAGGATCAAATGGGCATATCCTTTTAAAGAAATCCATATAATCATTTAAAGTTCATATAGTTATGAATTGAGGCTGAGAAGTGTCAACTCAATACCATGCTGAAACCAGCT... | CACTTTATTTTTTATGCGGTCTAACCTGGGTTTTTCGTAAGAGCTCCTTTATTTCTTATATTTTAAGGAAAGGGATAGGCAAAAACTTGTGTACTCATTATTCTGTTTAATCTCTACACTGGCCCTCATATCCCCTGCCAGTCCTGATCCTTCTACTTTAAGCAGCTTGGTCAACTGTAAGTAGGGTTCTAGAGAGCAGGCTAAAAGGTTAGGATCAAATGGGCATATCCTTTTAAAGAAATCCATATAATCATTTAAAGTTCATATAGTTATGAATTGAGGCTGAGAAGTGTCAACTCAATACCATGCTGAAACCAGCT... | pathogenic | 270,061 |
Regarding the variant at chromosome 17 and position 35577493, affecting gene PEX12 (peroxisomal biogenesis factor 12): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Peroxisome_biogenesis_disorder_3A_(Zellweger)', 'Peroxisome_biogenesis_disorder_type_3B'] | GTAAGAGCTCCTTTATTTCTTATATTTTAAGGAAAGGGATAGGCAAAAACTTGTGTACTCATTATTCTGTTTAATCTCTACACTGGCCCTCATATCCCCTGCCAGTCCTGATCCTTCTACTTTAAGCAGCTTGGTCAACTGTAAGTAGGGTTCTAGAGAGCAGGCTAAAAGGTTAGGATCAAATGGGCATATCCTTTTAAAGAAATCCATATAATCATTTAAAGTTCATATAGTTATGAATTGAGGCTGAGAAGTGTCAACTCAATACCATGCTGAAACCAGCTCTGTGACATTACAGCGCAATACTTTTGTTGTGAGGA... | GTAAGAGCTCCTTTATTTCTTATATTTTAAGGAAAGGGATAGGCAAAAACTTGTGTACTCATTATTCTGTTTAATCTCTACACTGGCCCTCATATCCCCTGCCAGTCCTGATCCTTCTACTTTAAGCAGCTTGGTCAACTGTAAGTAGGGTTCTAGAGAGCAGGCTAAAAGGTTAGGATCAAATGGGCATATCCTTTTAAAGAAATCCATATAATCATTTAAAGTTCATATAGTTATGAATTGAGGCTGAGAAGTGTCAACTCAATACCATGCTGAAACCAGCTCTGTGACATTACAGCGCAATACTTTTGTTGTGAGGA... | pathogenic | 270,062 |
Considering the variant on chromosome 17, location 35577945, involving gene PEX12 (peroxisomal biogenesis factor 12), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Peroxisome_biogenesis_disorder_3A_(Zellweger)', 'Peroxisome_biogenesis_disorder_type_3B'] | TAGCCAGAGGTGGCAAGAACAGTATCATTCACCCGGGTTTTACGACACAGTGGGCACACAGTCTTCATTTTGGGTAAGAGGGGAGAATCAGAGTTATAGTCTAGGTGTACAGGTGGTGGTGGAGTAGGCAGGGCAGTCAATGACTTGATGGTTTCTTGATTTTCAGATGAGTACCACCAGTCAAGGAACTGCAAGAAGAATACACCCACAGAAAGGCCAGTAGACAGGGATAAGGCAACACCCCCAACAGCTTTCTTCAGAGCTGAGTTTATCTTCTCACTAACACTGTTGGGAGAAAAGAACAAGGAGGCAAAGAGAGA... | TAGCCAGAGGTGGCAAGAACAGTATCATTCACCCGGGTTTTACGACACAGTGGGCACACAGTCTTCATTTTGGGTAAGAGGGGAGAATCAGAGTTATAGTCTAGGTGTACAGGTGGTGGTGGAGTAGGCAGGGCAGTCAATGACTTGATGGTTTCTTGATTTTCAGATGAGTACCACCAGTCAAGGAACTGCAAGAAGAATACACCCACAGAAAGGCCAGTAGACAGGGATAAGGCAACACCCCCAACAGCTTTCTTCAGAGCTGAGTTTATCTTCTCACTAACACTGTTGGGAGAAAAGAACAAGGAGGCAAAGAGAGA... | pathogenic | 270,069 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 37699418, gene HNF1B (HNF1 homeobox B). What disease(s) is it linked to if pathogenic? | benign | CATGCAGCTTCAAGGTTGGCTGGCCACTCTGTCCAATGGAGAGGAGAAGCCAGTGGGGGGCTGGTGCAGCGTCTCAGGGAGCATCTTAAAGTATTTTGATTAAGAGACCATTTCCTGAATTCAGACGACTTGTTTCAACAAGCAACCATCAAAGTCAACTTGGGAAAGACAGGAATAATTAATCATGGTCCTGTCTGGGGCTGACCAAGCGGCAGATGGATTGATAAACCTTTCAAAGGGGAAGGTATTCCCAAGGAGGGCCGCTGCGCCTGGCTGCCCCCCTGATTGAGATTTGTGAGCACAGATAAATGTTTTCCCTG... | CATGCAGCTTCAAGGTTGGCTGGCCACTCTGTCCAATGGAGAGGAGAAGCCAGTGGGGGGCTGGTGCAGCGTCTCAGGGAGCATCTTAAAGTATTTTGATTAAGAGACCATTTCCTGAATTCAGACGACTTGTTTCAACAAGCAACCATCAAAGTCAACTTGGGAAAGACAGGAATAATTAATCATGGTCCTGTCTGGGGCTGACCAAGCGGCAGATGGATTGATAAACCTTTCAAAGGGGAAGGTATTCCCAAGGAGGGCCGCTGCGCCTGGCTGCCCCCCTGATTGAGATTTGTGAGCACAGATAAATGTTTTCCCTG... | benign | 270,163 |
Does the variant impacting HNF1B (HNF1 homeobox B) on chromosome 17, position 37701103, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Renal_cysts_and_diabetes_syndrome'] | CGCAAATCCTGCTGGCATTACCTGTTTACTTGAAGACATGTTGGTGAGTGTACTGATGCTGCTGGTATCTGTGACCACCATTGCAGATGGAAACCGGGAGGTGTGGGAATACTGGGGGGGTTCCTGCTTGTGTGCGTACACTGGAGAGACAGAGTGAAGACAGAATCAAGGTGCATACACAGGCAAAGACACAGGTACAGAGCCCCCATCCCACACCATAGCTCCCATCTCCTCAGGTAGATAAAAGGGCTGGTGGTTATAGTGGGGATTTCTCATATTAGTTATCCATAAGATTCATGTAAATTCCAAGTCACATAACC... | CGCAAATCCTGCTGGCATTACCTGTTTACTTGAAGACATGTTGGTGAGTGTACTGATGCTGCTGGTATCTGTGACCACCATTGCAGATGGAAACCGGGAGGTGTGGGAATACTGGGGGGGTTCCTGCTTGTGTGCGTACACTGGAGAGACAGAGTGAAGACAGAATCAAGGTGCATACACAGGCAAAGACACAGGTACAGAGCCCCCATCCCACACCATAGCTCCCATCTCCTCAGGTAGATAAAAGGGCTGGTGGTTATAGTGGGGATTTCTCATATTAGTTATCCATAAGATTCATGTAAATTCCAAGTCACATAACC... | pathogenic | 270,169 |
Is chromosome 17, position 37704997, gene HNF1B (HNF1 homeobox B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Renal_cysts_and_diabetes_syndrome'] | GGGAAGTATGCTATCCAGTCCAGGGAAGAGATGAGAAAGAGAATAGGATGAAGAGGTGAGAATGAGTAGAGAATAAGGAATTGGCCCTGCCAAATAATTTGTTACCACCTTCTCCACAGGCTTCCGCAATTCTGAGGCAGGGCCCATGGTACTCAACACATCAGTCAGTTAAATGAAGATGCCTGCAACCAGTTTCTCATCCTAACACTCCATAGTGTAGGACCTCTGTGTCTCAGCAGTCTTCTGGTGATTCTCACCATTTCTCATGCTCTGTCTACCCCAAGTGTACACAGATATGTACACACACAGCCATCCTTCTG... | GGGAAGTATGCTATCCAGTCCAGGGAAGAGATGAGAAAGAGAATAGGATGAAGAGGTGAGAATGAGTAGAGAATAAGGAATTGGCCCTGCCAAATAATTTGTTACCACCTTCTCCACAGGCTTCCGCAATTCTGAGGCAGGGCCCATGGTACTCAACACATCAGTCAGTTAAATGAAGATGCCTGCAACCAGTTTCTCATCCTAACACTCCATAGTGTAGGACCTCTGTGTCTCAGCAGTCTTCTGGTGATTCTCACCATTTCTCATGCTCTGTCTACCCCAAGTGTACACAGATATGTACACACACAGCCATCCTTCTG... | pathogenic | 270,176 |
Chromosome 17, position 37705020, gene HNF1B (HNF1 homeobox B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Renal_cysts_and_diabetes_syndrome'] | GGAAGAGATGAGAAAGAGAATAGGATGAAGAGGTGAGAATGAGTAGAGAATAAGGAATTGGCCCTGCCAAATAATTTGTTACCACCTTCTCCACAGGCTTCCGCAATTCTGAGGCAGGGCCCATGGTACTCAACACATCAGTCAGTTAAATGAAGATGCCTGCAACCAGTTTCTCATCCTAACACTCCATAGTGTAGGACCTCTGTGTCTCAGCAGTCTTCTGGTGATTCTCACCATTTCTCATGCTCTGTCTACCCCAAGTGTACACAGATATGTACACACACAGCCATCCTTCTGAGGTCAGTGTGCACTCTGGTGCA... | GGAAGAGATGAGAAAGAGAATAGGATGAAGAGGTGAGAATGAGTAGAGAATAAGGAATTGGCCCTGCCAAATAATTTGTTACCACCTTCTCCACAGGCTTCCGCAATTCTGAGGCAGGGCCCATGGTACTCAACACATCAGTCAGTTAAATGAAGATGCCTGCAACCAGTTTCTCATCCTAACACTCCATAGTGTAGGACCTCTGTGTCTCAGCAGTCTTCTGGTGATTCTCACCATTTCTCATGCTCTGTCTACCCCAAGTGTACACAGATATGTACACACACAGCCATCCTTCTGAGGTCAGTGTGCACTCTGGTGCA... | pathogenic | 270,177 |
Clinically, how would you classify the variant at chromosome 17, position 37705295, gene HNF1B (HNF1 homeobox B): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TACACACACAGCCATCCTTCTGAGGTCAGTGTGCACTCTGGTGCAGCCCATCTGAATAGGAGATTAAGGAGCATCGTGAAATGATAGAGAAATATGAGTAGAGGAAATTAGAAAGAACAAAATGGAAAGATGCAGACTAGCCCCAGGGAAAATTTTAATTCAGATAGTATATATATATATATAACTGTATGGCAGTGAAAGCTTAGAATGGAAAGAAAGAAGTTAAGTGGGACAGTTTGTTTATTATTTTGGTTGCAGAAATAAGTGGAATATCTTCCCCACGGGCCTTTTAATCAAATCTTCTAAATGGCAAACAAGCT... | TACACACACAGCCATCCTTCTGAGGTCAGTGTGCACTCTGGTGCAGCCCATCTGAATAGGAGATTAAGGAGCATCGTGAAATGATAGAGAAATATGAGTAGAGGAAATTAGAAAGAACAAAATGGAAAGATGCAGACTAGCCCCAGGGAAAATTTTAATTCAGATAGTATATATATATATATAACTGTATGGCAGTGAAAGCTTAGAATGGAAAGAAAGAAGTTAAGTGGGACAGTTTGTTTATTATTTTGGTTGCAGAAATAAGTGGAATATCTTCCCCACGGGCCTTTTAATCAAATCTTCTAAATGGCAAACAAGCT... | benign | 270,179 |
Does the genetic variant at chromosome 17, position 37710576, impacting gene HNF1B (HNF1 homeobox B), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Renal_cysts_and_diabetes_syndrome'] | AAGGACCTTCAAGCAGTAAGAGCTGAGACCTGGAAGGTTCTTCCACACTGAGAAGTCAAGACCTCTTCCGTAAGGCACCCTTCTCCATGGAAGCCTGGGTAATCCTTAACCCTAACTTGTTTGGGACACTCTTGAGAAGTCAGAAAGACTTGTCTGTGCCTCTCACAGGTAACTGACACAAGTGGTTCTTCACATGGAGAAGAATCTTTCTTAAGGGATAGGTGGGAGTAGGAGAAGAGGGCTGCAAAATGCCTCCCCCAGGAATGCCCTTTCATTTTTGTTTGCAGAGACCACGACCAGGGCAAGCAGCTCAGGTCCTC... | AAGGACCTTCAAGCAGTAAGAGCTGAGACCTGGAAGGTTCTTCCACACTGAGAAGTCAAGACCTCTTCCGTAAGGCACCCTTCTCCATGGAAGCCTGGGTAATCCTTAACCCTAACTTGTTTGGGACACTCTTGAGAAGTCAGAAAGACTTGTCTGTGCCTCTCACAGGTAACTGACACAAGTGGTTCTTCACATGGAGAAGAATCTTTCTTAAGGGATAGGTGGGAGTAGGAGAAGAGGGCTGCAAAATGCCTCCCCCAGGAATGCCCTTTCATTTTTGTTTGCAGAGACCACGACCAGGGCAAGCAGCTCAGGTCCTC... | pathogenic | 270,184 |
Variant on chromosome 17, at position 37710577, affecting HNF1B (HNF1 homeobox B): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Nonpapillary_renal_cell_carcinoma', 'Renal_cysts_and_diabetes_syndrome', 'Type_2_diabetes_mellitus'] | AGGACCTTCAAGCAGTAAGAGCTGAGACCTGGAAGGTTCTTCCACACTGAGAAGTCAAGACCTCTTCCGTAAGGCACCCTTCTCCATGGAAGCCTGGGTAATCCTTAACCCTAACTTGTTTGGGACACTCTTGAGAAGTCAGAAAGACTTGTCTGTGCCTCTCACAGGTAACTGACACAAGTGGTTCTTCACATGGAGAAGAATCTTTCTTAAGGGATAGGTGGGAGTAGGAGAAGAGGGCTGCAAAATGCCTCCCCCAGGAATGCCCTTTCATTTTTGTTTGCAGAGACCACGACCAGGGCAAGCAGCTCAGGTCCTCT... | AGGACCTTCAAGCAGTAAGAGCTGAGACCTGGAAGGTTCTTCCACACTGAGAAGTCAAGACCTCTTCCGTAAGGCACCCTTCTCCATGGAAGCCTGGGTAATCCTTAACCCTAACTTGTTTGGGACACTCTTGAGAAGTCAGAAAGACTTGTCTGTGCCTCTCACAGGTAACTGACACAAGTGGTTCTTCACATGGAGAAGAATCTTTCTTAAGGGATAGGTGGGAGTAGGAGAAGAGGGCTGCAAAATGCCTCCCCCAGGAATGCCCTTTCATTTTTGTTTGCAGAGACCACGACCAGGGCAAGCAGCTCAGGTCCTCT... | pathogenic | 270,185 |
Gene mutation in HNF1B (HNF1 homeobox B) at chromosome 17, position 37710609—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Nonpapillary_renal_cell_carcinoma', 'Renal_cysts_and_diabetes_syndrome', 'Type_2_diabetes_mellitus'] | AAGGTTCTTCCACACTGAGAAGTCAAGACCTCTTCCGTAAGGCACCCTTCTCCATGGAAGCCTGGGTAATCCTTAACCCTAACTTGTTTGGGACACTCTTGAGAAGTCAGAAAGACTTGTCTGTGCCTCTCACAGGTAACTGACACAAGTGGTTCTTCACATGGAGAAGAATCTTTCTTAAGGGATAGGTGGGAGTAGGAGAAGAGGGCTGCAAAATGCCTCCCCCAGGAATGCCCTTTCATTTTTGTTTGCAGAGACCACGACCAGGGCAAGCAGCTCAGGTCCTCTGAAACCAGAATTGGCCGGGTCAGTGCTCCCCT... | AAGGTTCTTCCACACTGAGAAGTCAAGACCTCTTCCGTAAGGCACCCTTCTCCATGGAAGCCTGGGTAATCCTTAACCCTAACTTGTTTGGGACACTCTTGAGAAGTCAGAAAGACTTGTCTGTGCCTCTCACAGGTAACTGACACAAGTGGTTCTTCACATGGAGAAGAATCTTTCTTAAGGGATAGGTGGGAGTAGGAGAAGAGGGCTGCAAAATGCCTCCCCCAGGAATGCCCTTTCATTTTTGTTTGCAGAGACCACGACCAGGGCAAGCAGCTCAGGTCCTCTGAAACCAGAATTGGCCGGGTCAGTGCTCCCCT... | pathogenic | 270,186 |
Is the genetic mutation found on chromosome 17 at position 37731630, within the gene HNF1B (HNF1 homeobox B), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Renal_cysts_and_diabetes_syndrome'] | TGGTTCTGGGGACTCGACAGTGACCCGATATCCTTCCTACCAGACAGTAACCTCCCAGAGGGCAGGACGCGCAGCTCGTACATCACTAGCATATTCCCAGGACTTGGTAAGCATTCAACACATCGTAGTGCTGTGGGAAAGTATGGAGTGGGAACCAGCAGGCCTGAGCTCTAGTCCTTGTTTTGCTACCATTGCTCTGTGTCACTTTGGCAAATCACTGCCTCTTTCTGGGCCTCAGTTCCTTTCTTCAAATTCCCTCCAAATTCTAACATTACAAGATTTTTAGAAAGATCCAGACTTCAGGGGCACCCCAGAGTATC... | TGGTTCTGGGGACTCGACAGTGACCCGATATCCTTCCTACCAGACAGTAACCTCCCAGAGGGCAGGACGCGCAGCTCGTACATCACTAGCATATTCCCAGGACTTGGTAAGCATTCAACACATCGTAGTGCTGTGGGAAAGTATGGAGTGGGAACCAGCAGGCCTGAGCTCTAGTCCTTGTTTTGCTACCATTGCTCTGTGTCACTTTGGCAAATCACTGCCTCTTTCTGGGCCTCAGTTCCTTTCTTCAAATTCCCTCCAAATTCTAACATTACAAGATTTTTAGAAAGATCCAGACTTCAGGGGCACCCCAGAGTATC... | pathogenic | 270,189 |
Does the genetic variant at chromosome 17, position 37731633, impacting gene HNF1B (HNF1 homeobox B), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Renal_cysts_and_diabetes_syndrome'] | TTCTGGGGACTCGACAGTGACCCGATATCCTTCCTACCAGACAGTAACCTCCCAGAGGGCAGGACGCGCAGCTCGTACATCACTAGCATATTCCCAGGACTTGGTAAGCATTCAACACATCGTAGTGCTGTGGGAAAGTATGGAGTGGGAACCAGCAGGCCTGAGCTCTAGTCCTTGTTTTGCTACCATTGCTCTGTGTCACTTTGGCAAATCACTGCCTCTTTCTGGGCCTCAGTTCCTTTCTTCAAATTCCCTCCAAATTCTAACATTACAAGATTTTTAGAAAGATCCAGACTTCAGGGGCACCCCAGAGTATCCAC... | TTCTGGGGACTCGACAGTGACCCGATATCCTTCCTACCAGACAGTAACCTCCCAGAGGGCAGGACGCGCAGCTCGTACATCACTAGCATATTCCCAGGACTTGGTAAGCATTCAACACATCGTAGTGCTGTGGGAAAGTATGGAGTGGGAACCAGCAGGCCTGAGCTCTAGTCCTTGTTTTGCTACCATTGCTCTGTGTCACTTTGGCAAATCACTGCCTCTTTCTGGGCCTCAGTTCCTTTCTTCAAATTCCCTCCAAATTCTAACATTACAAGATTTTTAGAAAGATCCAGACTTCAGGGGCACCCCAGAGTATCCAC... | pathogenic | 270,190 |
Evaluate this variant at chromosome 17, position 37731633, gene HNF1B (HNF1 homeobox B): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Renal_cysts_and_diabetes_syndrome'] | TTCTGGGGACTCGACAGTGACCCGATATCCTTCCTACCAGACAGTAACCTCCCAGAGGGCAGGACGCGCAGCTCGTACATCACTAGCATATTCCCAGGACTTGGTAAGCATTCAACACATCGTAGTGCTGTGGGAAAGTATGGAGTGGGAACCAGCAGGCCTGAGCTCTAGTCCTTGTTTTGCTACCATTGCTCTGTGTCACTTTGGCAAATCACTGCCTCTTTCTGGGCCTCAGTTCCTTTCTTCAAATTCCCTCCAAATTCTAACATTACAAGATTTTTAGAAAGATCCAGACTTCAGGGGCACCCCAGAGTATCCAC... | TTCTGGGGACTCGACAGTGACCCGATATCCTTCCTACCAGACAGTAACCTCCCAGAGGGCAGGACGCGCAGCTCGTACATCACTAGCATATTCCCAGGACTTGGTAAGCATTCAACACATCGTAGTGCTGTGGGAAAGTATGGAGTGGGAACCAGCAGGCCTGAGCTCTAGTCCTTGTTTTGCTACCATTGCTCTGTGTCACTTTGGCAAATCACTGCCTCTTTCTGGGCCTCAGTTCCTTTCTTCAAATTCCCTCCAAATTCTAACATTACAAGATTTTTAGAAAGATCCAGACTTCAGGGGCACCCCAGAGTATCCAC... | pathogenic | 270,191 |
Is chromosome 17, position 37731799, gene HNF1B (HNF1 homeobox B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Renal_cysts_and_diabetes_syndrome'] | TCTAGTCCTTGTTTTGCTACCATTGCTCTGTGTCACTTTGGCAAATCACTGCCTCTTTCTGGGCCTCAGTTCCTTTCTTCAAATTCCCTCCAAATTCTAACATTACAAGATTTTTAGAAAGATCCAGACTTCAGGGGCACCCCAGAGTATCCACTTCCCATGGGACACGCCCTTCCTAGACTCCAGTCAGAGGAGTACACAGGCTGTGTTTTCTGCCCTGCTCCCTGTCCCTCCAGCCCTAGCTCTCTGGGTCTCCTGTCAGCACACAGGATGCCTAAACCAACGACCCCGTGGTGACCTCAGCACAGCCCTTGCTTGTC... | TCTAGTCCTTGTTTTGCTACCATTGCTCTGTGTCACTTTGGCAAATCACTGCCTCTTTCTGGGCCTCAGTTCCTTTCTTCAAATTCCCTCCAAATTCTAACATTACAAGATTTTTAGAAAGATCCAGACTTCAGGGGCACCCCAGAGTATCCACTTCCCATGGGACACGCCCTTCCTAGACTCCAGTCAGAGGAGTACACAGGCTGTGTTTTCTGCCCTGCTCCCTGTCCCTCCAGCCCTAGCTCTCTGGGTCTCCTGTCAGCACACAGGATGCCTAAACCAACGACCCCGTGGTGACCTCAGCACAGCCCTTGCTTGTC... | pathogenic | 270,201 |
The chromosome 17, position 37731799 genetic variant in gene HNF1B (HNF1 homeobox B): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Renal_cysts_and_diabetes_syndrome'] | TCTAGTCCTTGTTTTGCTACCATTGCTCTGTGTCACTTTGGCAAATCACTGCCTCTTTCTGGGCCTCAGTTCCTTTCTTCAAATTCCCTCCAAATTCTAACATTACAAGATTTTTAGAAAGATCCAGACTTCAGGGGCACCCCAGAGTATCCACTTCCCATGGGACACGCCCTTCCTAGACTCCAGTCAGAGGAGTACACAGGCTGTGTTTTCTGCCCTGCTCCCTGTCCCTCCAGCCCTAGCTCTCTGGGTCTCCTGTCAGCACACAGGATGCCTAAACCAACGACCCCGTGGTGACCTCAGCACAGCCCTTGCTTGTC... | TCTAGTCCTTGTTTTGCTACCATTGCTCTGTGTCACTTTGGCAAATCACTGCCTCTTTCTGGGCCTCAGTTCCTTTCTTCAAATTCCCTCCAAATTCTAACATTACAAGATTTTTAGAAAGATCCAGACTTCAGGGGCACCCCAGAGTATCCACTTCCCATGGGACACGCCCTTCCTAGACTCCAGTCAGAGGAGTACACAGGCTGTGTTTTCTGCCCTGCTCCCTGTCCCTCCAGCCCTAGCTCTCTGGGTCTCCTGTCAGCACACAGGATGCCTAAACCAACGACCCCGTGGTGACCTCAGCACAGCCCTTGCTTGTC... | pathogenic | 270,202 |
Regarding the variant found on chromosome 17 at position 37733576 in gene HNF1B: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Renal_cysts_and_diabetes_syndrome'] | GATAAGATCCGTGGCAAGAACCAGGATGGTTGGGTTGCCGAGGCAGTGAGGCCCAACCTTTGCTTACCTGACAGCTTGTTTGGAGGAGAGGAGCTGGGCTGGTGGTGGGGGGAGCCGTGGGAGAGCAGAGGGTTCAGGCTGTGAGTCTGGTTGGAGCTATAGGCGTCCATGGCCAGCTTTTGCCGGAATGCCTCCTCCTTCCTGCGGTTTGCAAACCAGTTGTAGACACGGACCTCAGTGACCAAGTTGGAGCCCAGGCCGTGGGCTTTGGAGGGGGACACCCCTCGCTGCAAACATTCTGCCCTGGGAATGGATGGAGG... | GATAAGATCCGTGGCAAGAACCAGGATGGTTGGGTTGCCGAGGCAGTGAGGCCCAACCTTTGCTTACCTGACAGCTTGTTTGGAGGAGAGGAGCTGGGCTGGTGGTGGGGGGAGCCGTGGGAGAGCAGAGGGTTCAGGCTGTGAGTCTGGTTGGAGCTATAGGCGTCCATGGCCAGCTTTTGCCGGAATGCCTCCTCCTTCCTGCGGTTTGCAAACCAGTTGTAGACACGGACCTCAGTGACCAAGTTGGAGCCCAGGCCGTGGGCTTTGGAGGGGGACACCCCTCGCTGCAAACATTCTGCCCTGGGAATGGATGGAGG... | pathogenic | 270,213 |
A genetic variant at chromosome 17, position 37733645, affecting gene HNF1B—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Renal_cysts_and_diabetes_syndrome'] | GACAGCTTGTTTGGAGGAGAGGAGCTGGGCTGGTGGTGGGGGGAGCCGTGGGAGAGCAGAGGGTTCAGGCTGTGAGTCTGGTTGGAGCTATAGGCGTCCATGGCCAGCTTTTGCCGGAATGCCTCCTCCTTCCTGCGGTTTGCAAACCAGTTGTAGACACGGACCTCAGTGACCAAGTTGGAGCCCAGGCCGTGGGCTTTGGAGGGGGACACCCCTCGCTGCAAACATTCTGCCCTGGGAATGGATGGAGGGGAGATGGTGAGTGAGGGGGGGCGGGGGGACTTGTTGGTGCTTGGCCAAAAACACACAATCACAGCAGT... | GACAGCTTGTTTGGAGGAGAGGAGCTGGGCTGGTGGTGGGGGGAGCCGTGGGAGAGCAGAGGGTTCAGGCTGTGAGTCTGGTTGGAGCTATAGGCGTCCATGGCCAGCTTTTGCCGGAATGCCTCCTCCTTCCTGCGGTTTGCAAACCAGTTGTAGACACGGACCTCAGTGACCAAGTTGGAGCCCAGGCCGTGGGCTTTGGAGGGGGACACCCCTCGCTGCAAACATTCTGCCCTGGGAATGGATGGAGGGGAGATGGTGAGTGAGGGGGGGCGGGGGGACTTGTTGGTGCTTGGCCAAAAACACACAATCACAGCAGT... | pathogenic | 270,217 |
Mutation found at chromosome 17 position 37733648, gene HNF1B: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Renal_cysts_and_diabetes_syndrome', 'Type_2_diabetes_mellitus'] | AGCTTGTTTGGAGGAGAGGAGCTGGGCTGGTGGTGGGGGGAGCCGTGGGAGAGCAGAGGGTTCAGGCTGTGAGTCTGGTTGGAGCTATAGGCGTCCATGGCCAGCTTTTGCCGGAATGCCTCCTCCTTCCTGCGGTTTGCAAACCAGTTGTAGACACGGACCTCAGTGACCAAGTTGGAGCCCAGGCCGTGGGCTTTGGAGGGGGACACCCCTCGCTGCAAACATTCTGCCCTGGGAATGGATGGAGGGGAGATGGTGAGTGAGGGGGGGCGGGGGGACTTGTTGGTGCTTGGCCAAAAACACACAATCACAGCAGTCTT... | AGCTTGTTTGGAGGAGAGGAGCTGGGCTGGTGGTGGGGGGAGCCGTGGGAGAGCAGAGGGTTCAGGCTGTGAGTCTGGTTGGAGCTATAGGCGTCCATGGCCAGCTTTTGCCGGAATGCCTCCTCCTTCCTGCGGTTTGCAAACCAGTTGTAGACACGGACCTCAGTGACCAAGTTGGAGCCCAGGCCGTGGGCTTTGGAGGGGGACACCCCTCGCTGCAAACATTCTGCCCTGGGAATGGATGGAGGGGAGATGGTGAGTGAGGGGGGGCGGGGGGACTTGTTGGTGCTTGGCCAAAAACACACAATCACAGCAGTCTT... | pathogenic | 270,218 |
For chromosome 17, position 37733730, gene HNF1B: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Renal_cysts_and_diabetes_syndrome'] | AGCTATAGGCGTCCATGGCCAGCTTTTGCCGGAATGCCTCCTCCTTCCTGCGGTTTGCAAACCAGTTGTAGACACGGACCTCAGTGACCAAGTTGGAGCCCAGGCCGTGGGCTTTGGAGGGGGACACCCCTCGCTGCAAACATTCTGCCCTGGGAATGGATGGAGGGGAGATGGTGAGTGAGGGGGGGCGGGGGGACTTGTTGGTGCTTGGCCAAAAACACACAATCACAGCAGTCTTGGTTGGGAGTATGAAGGGGCCGTGGGCAGAATGGAAGGCTGGGGAGGAGAGGCCTATGCAGAGAAAAGGCCAATCCATGGAG... | AGCTATAGGCGTCCATGGCCAGCTTTTGCCGGAATGCCTCCTCCTTCCTGCGGTTTGCAAACCAGTTGTAGACACGGACCTCAGTGACCAAGTTGGAGCCCAGGCCGTGGGCTTTGGAGGGGGACACCCCTCGCTGCAAACATTCTGCCCTGGGAATGGATGGAGGGGAGATGGTGAGTGAGGGGGGGCGGGGGGACTTGTTGGTGCTTGGCCAAAAACACACAATCACAGCAGTCTTGGTTGGGAGTATGAAGGGGCCGTGGGCAGAATGGAAGGCTGGGGAGGAGAGGCCTATGCAGAGAAAAGGCCAATCCATGGAG... | pathogenic | 270,224 |
Variant on chromosome 17, at position 37733737, affecting HNF1B: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Renal_cysts_and_diabetes_syndrome'] | GGCGTCCATGGCCAGCTTTTGCCGGAATGCCTCCTCCTTCCTGCGGTTTGCAAACCAGTTGTAGACACGGACCTCAGTGACCAAGTTGGAGCCCAGGCCGTGGGCTTTGGAGGGGGACACCCCTCGCTGCAAACATTCTGCCCTGGGAATGGATGGAGGGGAGATGGTGAGTGAGGGGGGGCGGGGGGACTTGTTGGTGCTTGGCCAAAAACACACAATCACAGCAGTCTTGGTTGGGAGTATGAAGGGGCCGTGGGCAGAATGGAAGGCTGGGGAGGAGAGGCCTATGCAGAGAAAAGGCCAATCCATGGAGTGATCTG... | GGCGTCCATGGCCAGCTTTTGCCGGAATGCCTCCTCCTTCCTGCGGTTTGCAAACCAGTTGTAGACACGGACCTCAGTGACCAAGTTGGAGCCCAGGCCGTGGGCTTTGGAGGGGGACACCCCTCGCTGCAAACATTCTGCCCTGGGAATGGATGGAGGGGAGATGGTGAGTGAGGGGGGGCGGGGGGACTTGTTGGTGCTTGGCCAAAAACACACAATCACAGCAGTCTTGGTTGGGAGTATGAAGGGGCCGTGGGCAGAATGGAAGGCTGGGGAGGAGAGGCCTATGCAGAGAAAAGGCCAATCCATGGAGTGATCTG... | pathogenic | 270,226 |
Variant in gene HNF1B (HNF1 homeobox B), located at chromosome 17 position 37739433: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Renal_cysts_and_diabetes_syndrome'] | CTTCTTCACTGGATGGCAGGTAAGTCCCTGGAGAAAAGAACCTATGTATTCCATAGCTTAGCGTAGTGTTTGGCACATAGTAGGTGCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCG... | CTTCTTCACTGGATGGCAGGTAAGTCCCTGGAGAAAAGAACCTATGTATTCCATAGCTTAGCGTAGTGTTTGGCACATAGTAGGTGCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCG... | pathogenic | 270,228 |
Benign or pathogenic: chromosome 17, position 37739480, gene HNF1B (HNF1 homeobox B) variant? Disease(s) if pathogenic? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Renal_cysts_and_diabetes_syndrome'] | ATTCCATAGCTTAGCGTAGTGTTTGGCACATAGTAGGTGCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGC... | ATTCCATAGCTTAGCGTAGTGTTTGGCACATAGTAGGTGCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGC... | pathogenic | 270,240 |
Evaluate this variant at chromosome 17, position 37739487, gene HNF1B (HNF1 homeobox B): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Renal_cysts_and_diabetes_syndrome'] | AGCTTAGCGTAGTGTTTGGCACATAGTAGGTGCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACC... | AGCTTAGCGTAGTGTTTGGCACATAGTAGGTGCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACC... | pathogenic | 270,241 |
Evaluate if the mutation on chromosome 17 at position 37739506 in HNF1B (HNF1 homeobox B) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Nonpapillary_renal_cell_carcinoma', 'Renal_cysts_and_diabetes_syndrome', 'Type_2_diabetes_mellitus'] | CACATAGTAGGTGCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG... | CACATAGTAGGTGCCTGTATAATAGTTACAGAAGGAAGGAATGTTTCTTAAGCTTTTATGTCTCGTGTGACTTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG... | pathogenic | 270,247 |
Chromosome 17, position 37739577, gene HNF1B (HNF1 homeobox B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Renal_cysts_and_diabetes_syndrome'] | TTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGTGGCAGAGCGAGACCCCGTCTCAAAAAGTTAAATAA... | TTTAAAACAAAAATAACAACTGGGTGCGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGCGGATCACGAGGTCAGGAGATCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACCAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGCAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGTCTGGGTGGCAGAGCGAGACCCCGTCTCAAAAAGTTAAATAA... | pathogenic | 270,254 |
A genetic variant on chromosome 17, position 37744535, affects the gene HNF1B (HNF1 homeobox B). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Renal_cysts_and_diabetes_syndrome'] | CCCCCTGTGCAGTGACCTAGGAACCGCTAGCGATTTCTTGAAAAATTACTTTAATCAAGTCCGGCGCTCCCGGGAGCGGGGGAGGAAAGGCAGCACCCGCTCGGGACGGGAGAAAAAAGCCTCCAGGTCTGTCCCGCGTCTCCAACTCGGCGAGGGTCTCCGGCTCCCCAGTCCCTCTCCCTGCCCTGCTGGGGCCTGGGGCTTTGGGGAGGGAAGAGCGGGGCTGGGGTCTAAGGACCCTGGGCCGGGCCTGGCTCTCCGCCGGCCGGGCCTGCGGGTGTCGGCGACCCGGGGGCTCCGCGGGCGGCTCGGGCGCTCAC... | CCCCCTGTGCAGTGACCTAGGAACCGCTAGCGATTTCTTGAAAAATTACTTTAATCAAGTCCGGCGCTCCCGGGAGCGGGGGAGGAAAGGCAGCACCCGCTCGGGACGGGAGAAAAAAGCCTCCAGGTCTGTCCCGCGTCTCCAACTCGGCGAGGGTCTCCGGCTCCCCAGTCCCTCTCCCTGCCCTGCTGGGGCCTGGGGCTTTGGGGAGGGAAGAGCGGGGCTGGGGTCTAAGGACCCTGGGCCGGGCCTGGCTCTCCGCCGGCCGGGCCTGCGGGTGTCGGCGACCCGGGGGCTCCGCGGGCGGCTCGGGCGCTCAC... | pathogenic | 270,265 |
Is the genetic change at chromosome 17, position 37744544, within gene HNF1B (HNF1 homeobox B) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Renal_cysts_and_diabetes_syndrome'] | CAGTGACCTAGGAACCGCTAGCGATTTCTTGAAAAATTACTTTAATCAAGTCCGGCGCTCCCGGGAGCGGGGGAGGAAAGGCAGCACCCGCTCGGGACGGGAGAAAAAAGCCTCCAGGTCTGTCCCGCGTCTCCAACTCGGCGAGGGTCTCCGGCTCCCCAGTCCCTCTCCCTGCCCTGCTGGGGCCTGGGGCTTTGGGGAGGGAAGAGCGGGGCTGGGGTCTAAGGACCCTGGGCCGGGCCTGGCTCTCCGCCGGCCGGGCCTGCGGGTGTCGGCGACCCGGGGGCTCCGCGGGCGGCTCGGGCGCTCACAGAGCCCGC... | CAGTGACCTAGGAACCGCTAGCGATTTCTTGAAAAATTACTTTAATCAAGTCCGGCGCTCCCGGGAGCGGGGGAGGAAAGGCAGCACCCGCTCGGGACGGGAGAAAAAAGCCTCCAGGTCTGTCCCGCGTCTCCAACTCGGCGAGGGTCTCCGGCTCCCCAGTCCCTCTCCCTGCCCTGCTGGGGCCTGGGGCTTTGGGGAGGGAAGAGCGGGGCTGGGGTCTAAGGACCCTGGGCCGGGCCTGGCTCTCCGCCGGCCGGGCCTGCGGGTGTCGGCGACCCGGGGGCTCCGCGGGCGGCTCGGGCGCTCACAGAGCCCGC... | pathogenic | 270,267 |
A genetic variant on chromosome 17, position 37744651, affects the gene HNF1B (HNF1 homeobox B). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hyperuricemic_nephropathy,_familial_juvenile_type_3', 'Maturity_onset_diabetes_mellitus_in_young', 'Renal_cysts_and_diabetes_syndrome'] | AAGCCTCCAGGTCTGTCCCGCGTCTCCAACTCGGCGAGGGTCTCCGGCTCCCCAGTCCCTCTCCCTGCCCTGCTGGGGCCTGGGGCTTTGGGGAGGGAAGAGCGGGGCTGGGGTCTAAGGACCCTGGGCCGGGCCTGGCTCTCCGCCGGCCGGGCCTGCGGGTGTCGGCGACCCGGGGGCTCCGCGGGCGGCTCGGGCGCTCACAGAGCCCGCGTCCCGCGCCAGAGCGGTGAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCC... | AAGCCTCCAGGTCTGTCCCGCGTCTCCAACTCGGCGAGGGTCTCCGGCTCCCCAGTCCCTCTCCCTGCCCTGCTGGGGCCTGGGGCTTTGGGGAGGGAAGAGCGGGGCTGGGGTCTAAGGACCCTGGGCCGGGCCTGGCTCTCCGCCGGCCGGGCCTGCGGGTGTCGGCGACCCGGGGGCTCCGCGGGCGGCTCGGGCGCTCACAGAGCCCGCGTCCCGCGCCAGAGCGGTGAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCC... | pathogenic | 270,272 |
Is the genetic change at chromosome 17, position 37744697, within gene HNF1B (HNF1 homeobox B) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Renal_cysts_and_diabetes_syndrome'] | GCTCCCCAGTCCCTCTCCCTGCCCTGCTGGGGCCTGGGGCTTTGGGGAGGGAAGAGCGGGGCTGGGGTCTAAGGACCCTGGGCCGGGCCTGGCTCTCCGCCGGCCGGGCCTGCGGGTGTCGGCGACCCGGGGGCTCCGCGGGCGGCTCGGGCGCTCACAGAGCCCGCGTCCCGCGCCAGAGCGGTGAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCCTCTAAGCCGCGTTTACAACTTCACCAATGAATAACCCGCCTCTCTT... | GCTCCCCAGTCCCTCTCCCTGCCCTGCTGGGGCCTGGGGCTTTGGGGAGGGAAGAGCGGGGCTGGGGTCTAAGGACCCTGGGCCGGGCCTGGCTCTCCGCCGGCCGGGCCTGCGGGTGTCGGCGACCCGGGGGCTCCGCGGGCGGCTCGGGCGCTCACAGAGCCCGCGTCCCGCGCCAGAGCGGTGAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCCTCTAAGCCGCGTTTACAACTTCACCAATGAATAACCCGCCTCTCTT... | pathogenic | 270,276 |
Does the variant on chromosome 17 at location 37744763 affecting gene HNF1B (HNF1 homeobox B) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Renal_cysts_and_diabetes_syndrome'] | GTCTAAGGACCCTGGGCCGGGCCTGGCTCTCCGCCGGCCGGGCCTGCGGGTGTCGGCGACCCGGGGGCTCCGCGGGCGGCTCGGGCGCTCACAGAGCCCGCGTCCCGCGCCAGAGCGGTGAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCCTCTAAGCCGCGTTTACAACTTCACCAATGAATAACCCGCCTCTCTTTTCAACCTAATCACGGCTCTTTGTGTATCTTTCTGTTGATGATTTATAGAAATAAATTAATAACAC... | GTCTAAGGACCCTGGGCCGGGCCTGGCTCTCCGCCGGCCGGGCCTGCGGGTGTCGGCGACCCGGGGGCTCCGCGGGCGGCTCGGGCGCTCACAGAGCCCGCGTCCCGCGCCAGAGCGGTGAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCCTCTAAGCCGCGTTTACAACTTCACCAATGAATAACCCGCCTCTCTTTTCAACCTAATCACGGCTCTTTGTGTATCTTTCTGTTGATGATTTATAGAAATAAATTAATAACAC... | pathogenic | 270,278 |
Does the chromosome 17 mutation at position 37744774 within gene HNF1B (HNF1 homeobox B) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Renal_cysts_and_diabetes_syndrome'] | CTGGGCCGGGCCTGGCTCTCCGCCGGCCGGGCCTGCGGGTGTCGGCGACCCGGGGGCTCCGCGGGCGGCTCGGGCGCTCACAGAGCCCGCGTCCCGCGCCAGAGCGGTGAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCCTCTAAGCCGCGTTTACAACTTCACCAATGAATAACCCGCCTCTCTTTTCAACCTAATCACGGCTCTTTGTGTATCTTTCTGTTGATGATTTATAGAAATAAATTAATAACACCCCAACTCCAC... | CTGGGCCGGGCCTGGCTCTCCGCCGGCCGGGCCTGCGGGTGTCGGCGACCCGGGGGCTCCGCGGGCGGCTCGGGCGCTCACAGAGCCCGCGTCCCGCGCCAGAGCGGTGAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCCTCTAAGCCGCGTTTACAACTTCACCAATGAATAACCCGCCTCTCTTTTCAACCTAATCACGGCTCTTTGTGTATCTTTCTGTTGATGATTTATAGAAATAAATTAATAACACCCCAACTCCAC... | pathogenic | 270,279 |
Evaluate if the mutation on chromosome 17 at position 37744823 in HNF1B (HNF1 homeobox B) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Maturity_onset_diabetes_mellitus_in_young', 'Renal_cysts_and_diabetes_syndrome'] | CCGGGGGCTCCGCGGGCGGCTCGGGCGCTCACAGAGCCCGCGTCCCGCGCCAGAGCGGTGAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCCTCTAAGCCGCGTTTACAACTTCACCAATGAATAACCCGCCTCTCTTTTCAACCTAATCACGGCTCTTTGTGTATCTTTCTGTTGATGATTTATAGAAATAAATTAATAACACCCCAACTCCACGTGCTGCAGTTTATGTTACGTCTCAGCTGCGGCCAGCCCGGCGCGGGGC... | CCGGGGGCTCCGCGGGCGGCTCGGGCGCTCACAGAGCCCGCGTCCCGCGCCAGAGCGGTGAGGCCGCAGGGCCGCACGGGGCGCCTGGCTGGGTGCGCGCTGGGAGCGGCGAGCAGCCCCGCGCCCGCGTTTTGATCTCCTTCCCCCCTCTAAGCCGCGTTTACAACTTCACCAATGAATAACCCGCCTCTCTTTTCAACCTAATCACGGCTCTTTGTGTATCTTTCTGTTGATGATTTATAGAAATAAATTAATAACACCCCAACTCCACGTGCTGCAGTTTATGTTACGTCTCAGCTGCGGCCAGCCCGGCGCGGGGC... | pathogenic | 270,280 |
Considering the variant on chromosome 17, location 38334760, involving gene GPR179 (G protein-coupled receptor 179), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Congenital_stationary_night_blindness_1E'] | TCCTCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGACATGTACCACCATGCCTGGCTAATTTTTGTATTTCTAGTAGAGACGAGATTTCGCCATTTGGCCAGGCTGGTCAAACTCCTGGCCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAACCACTGTGCCCAGCCAGCTGAGGGGTTTCTTAGACTGCCCCCGACCTGATGCCCCTGCTGAGTGAGAGTGGAGGATGCGAAGGAGTAGGGCTCCACTCTCGGCCCTGCCTCTAGCTTGCCACATGGCCTGAGCCTCCGGG... | TCCTCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGACATGTACCACCATGCCTGGCTAATTTTTGTATTTCTAGTAGAGACGAGATTTCGCCATTTGGCCAGGCTGGTCAAACTCCTGGCCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAACCACTGTGCCCAGCCAGCTGAGGGGTTTCTTAGACTGCCCCCGACCTGATGCCCCTGCTGAGTGAGAGTGGAGGATGCGAAGGAGTAGGGCTCCACTCTCGGCCCTGCCTCTAGCTTGCCACATGGCCTGAGCCTCCGGG... | pathogenic | 270,325 |
Is the variant located on chromosome 17 at position 38337639, gene GPR179 (G protein-coupled receptor 179), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Congenital_stationary_night_blindness', 'Congenital_stationary_night_blindness_1E', 'Optic_atrophy', 'Retinal_dystrophy'] | CTGTAAAGCTTGAGTATGATGGTGCCGTAGACGATGGCAAAACCCAGCAGCCGCACCCAGCGAAGAGCGATGCAGCGGAATACACTGGGCTTGAAGTATAGGATGAAGACCTGGTGGGAAGGGGCAAAAATCTCTGCTCTCTACTATGCTTCTGCTGTGGGCCAGGCCTATGCTAAGCACACTGTGGATCCTCCCAACAGCCCTGCAATAGAGCCATCACCACCTTCATTCTGCAGAGGAGCAGCTGAAGTGTCAAAGAAGTTAGGTAACTTGCCCTAAATCACACTGCAAGTCACAGAGCTCCTAATAAGCCTGAGGCT... | CTGTAAAGCTTGAGTATGATGGTGCCGTAGACGATGGCAAAACCCAGCAGCCGCACCCAGCGAAGAGCGATGCAGCGGAATACACTGGGCTTGAAGTATAGGATGAAGACCTGGTGGGAAGGGGCAAAAATCTCTGCTCTCTACTATGCTTCTGCTGTGGGCCAGGCCTATGCTAAGCACACTGTGGATCCTCCCAACAGCCCTGCAATAGAGCCATCACCACCTTCATTCTGCAGAGGAGCAGCTGAAGTGTCAAAGAAGTTAGGTAACTTGCCCTAAATCACACTGCAAGTCACAGAGCTCCTAATAAGCCTGAGGCT... | pathogenic | 270,334 |
Variant at chromosome 17, position 38339517, gene GPR179 (G protein-coupled receptor 179): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Congenital_stationary_night_blindness'] | CACACTGCAACCTGCTTGCCTCTCCTGCCTCTCTCAACCTTCTGCCCTTGCCCCACAAGTTCCCTCCCAGTGTCTCACCCCAATCTGGCTTTCTTCCCCAGATGTACCCTCCCAACCATCCTCTCATGTAAAACACATGCCTGGCCCCCACCACACTTACATACCCCCAGAGGGGCTTGCCCCGTAGAATCCAGGTCGGCAGCGGCAGAGGTAGCGGCCAAGAACAAAGCCCTGACTCTCCAGGGGGACACACTATGGGGACAACAAACACAGTATGTGTTTATGTGGGGCTTTCTCTGGAAGAGCTTTCCCTCCTGGGA... | CACACTGCAACCTGCTTGCCTCTCCTGCCTCTCTCAACCTTCTGCCCTTGCCCCACAAGTTCCCTCCCAGTGTCTCACCCCAATCTGGCTTTCTTCCCCAGATGTACCCTCCCAACCATCCTCTCATGTAAAACACATGCCTGGCCCCCACCACACTTACATACCCCCAGAGGGGCTTGCCCCGTAGAATCCAGGTCGGCAGCGGCAGAGGTAGCGGCCAAGAACAAAGCCCTGACTCTCCAGGGGGACACACTATGGGGACAACAAACACAGTATGTGTTTATGTGGGGCTTTCTCTGGAAGAGCTTTCCCTCCTGGGA... | pathogenic | 270,338 |
Evaluate this variant at chromosome 17, position 38850224, gene RPL23 (ribosomal protein L23): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | AGCTGACTTGAAATTGACCATACTCAGGGATGTTATGGTGTAACTCTCTAAAACTAGAGATTTAATACATTTTTTTTCTTTCCCCCCAGAGTTTCACTGGTTGCCCAGGCTGGAGCACAATCGTGCGACCTCAGCTCACTGCAACCTCCATCTCCGGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCATGCACCACCATGCCTGGCTAATTTTGTATAGTAGAGATGGGGTTTCAACATGTTGGACAGGCTGGTCTCACTCTCCTGACCTCAGATGATCCACCCACCTCAGCCTCCCAAA... | AGCTGACTTGAAATTGACCATACTCAGGGATGTTATGGTGTAACTCTCTAAAACTAGAGATTTAATACATTTTTTTTCTTTCCCCCCAGAGTTTCACTGGTTGCCCAGGCTGGAGCACAATCGTGCGACCTCAGCTCACTGCAACCTCCATCTCCGGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCATGCACCACCATGCCTGGCTAATTTTGTATAGTAGAGATGGGGTTTCAACATGTTGGACAGGCTGGTCTCACTCTCCTGACCTCAGATGATCCACCCACCTCAGCCTCCCAAA... | benign | 270,370 |
Determine whether the variant at chromosome 17, position 39665370, in gene TCAP (titin-cap) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Abnormality_of_the_musculature', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2G'] | ATTGAAAGAGTCTGGGACCCTTGTTGGGGAGTGGGTGGCAGGTGGGGGTGGGCTGCTGGCCATGAATCTCTGCCTCTCCCAGGCTGTCCCCCTCCTCCCAGGGCCTCCTGGGGGACCTTTGTATTAAGCCAATTAAAAACATGAATTTAAAAAAAAAAAAAAATTCCAGCCCCTCCCACTGCCTTGCCTCTTGAGGGAAGAGAAAGGCAGGCAGCAGCTTGGATGAAGAGGGAAGACCCCTCACACAGCCTCTCCTGGGCTCACAGGAGGGCGGAGCCCGGGGAGCCAGTTCCTGAAACATGCCCCCCATTCCCCCCCCG... | ATTGAAAGAGTCTGGGACCCTTGTTGGGGAGTGGGTGGCAGGTGGGGGTGGGCTGCTGGCCATGAATCTCTGCCTCTCCCAGGCTGTCCCCCTCCTCCCAGGGCCTCCTGGGGGACCTTTGTATTAAGCCAATTAAAAACATGAATTTAAAAAAAAAAAAAAATTCCAGCCCCTCCCACTGCCTTGCCTCTTGAGGGAAGAGAAAGGCAGGCAGCAGCTTGGATGAAGAGGGAAGACCCCTCACACAGCCTCTCCTGGGCTCACAGGAGGGCGGAGCCCGGGGAGCCAGTTCCTGAAACATGCCCCCCATTCCCCCCCCG... | pathogenic | 270,419 |
Evaluate this variant at chromosome 17, position 39665382, gene TCAP (titin-cap): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2G', 'Hypertrophic_cardiomyopathy_25', 'Primary_familial_hypertrophic_cardiomyopathy'] | TGGGACCCTTGTTGGGGAGTGGGTGGCAGGTGGGGGTGGGCTGCTGGCCATGAATCTCTGCCTCTCCCAGGCTGTCCCCCTCCTCCCAGGGCCTCCTGGGGGACCTTTGTATTAAGCCAATTAAAAACATGAATTTAAAAAAAAAAAAAAATTCCAGCCCCTCCCACTGCCTTGCCTCTTGAGGGAAGAGAAAGGCAGGCAGCAGCTTGGATGAAGAGGGAAGACCCCTCACACAGCCTCTCCTGGGCTCACAGGAGGGCGGAGCCCGGGGAGCCAGTTCCTGAAACATGCCCCCCATTCCCCCCCCGCCCACCCCCCAC... | TGGGACCCTTGTTGGGGAGTGGGTGGCAGGTGGGGGTGGGCTGCTGGCCATGAATCTCTGCCTCTCCCAGGCTGTCCCCCTCCTCCCAGGGCCTCCTGGGGGACCTTTGTATTAAGCCAATTAAAAACATGAATTTAAAAAAAAAAAAAAATTCCAGCCCCTCCCACTGCCTTGCCTCTTGAGGGAAGAGAAAGGCAGGCAGCAGCTTGGATGAAGAGGGAAGACCCCTCACACAGCCTCTCCTGGGCTCACAGGAGGGCGGAGCCCGGGGAGCCAGTTCCTGAAACATGCCCCCCATTCCCCCCCCGCCCACCCCCCAC... | pathogenic | 270,420 |
Variant at chromosome position 39665391, chromosome 17, gene TCAP (titin-cap): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Abnormality_of_the_musculature', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2G', 'Hypertrophic_cardiomyopathy_25', 'Primary_familial_hypertrophic_cardiomyopathy'] | TGTTGGGGAGTGGGTGGCAGGTGGGGGTGGGCTGCTGGCCATGAATCTCTGCCTCTCCCAGGCTGTCCCCCTCCTCCCAGGGCCTCCTGGGGGACCTTTGTATTAAGCCAATTAAAAACATGAATTTAAAAAAAAAAAAAAATTCCAGCCCCTCCCACTGCCTTGCCTCTTGAGGGAAGAGAAAGGCAGGCAGCAGCTTGGATGAAGAGGGAAGACCCCTCACACAGCCTCTCCTGGGCTCACAGGAGGGCGGAGCCCGGGGAGCCAGTTCCTGAAACATGCCCCCCATTCCCCCCCCGCCCACCCCCCACTCCCCGCTT... | TGTTGGGGAGTGGGTGGCAGGTGGGGGTGGGCTGCTGGCCATGAATCTCTGCCTCTCCCAGGCTGTCCCCCTCCTCCCAGGGCCTCCTGGGGGACCTTTGTATTAAGCCAATTAAAAACATGAATTTAAAAAAAAAAAAAAATTCCAGCCCCTCCCACTGCCTTGCCTCTTGAGGGAAGAGAAAGGCAGGCAGCAGCTTGGATGAAGAGGGAAGACCCCTCACACAGCCTCTCCTGGGCTCACAGGAGGGCGGAGCCCGGGGAGCCAGTTCCTGAAACATGCCCCCCATTCCCCCCCCGCCCACCCCCCACTCCCCGCTT... | pathogenic | 270,422 |
Determine whether the variant at chromosome 17, position 39665400, in gene TCAP (titin-cap) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hypertrophic_cardiomyopathy_25', 'Primary_familial_hypertrophic_cardiomyopathy'] | GTGGGTGGCAGGTGGGGGTGGGCTGCTGGCCATGAATCTCTGCCTCTCCCAGGCTGTCCCCCTCCTCCCAGGGCCTCCTGGGGGACCTTTGTATTAAGCCAATTAAAAACATGAATTTAAAAAAAAAAAAAAATTCCAGCCCCTCCCACTGCCTTGCCTCTTGAGGGAAGAGAAAGGCAGGCAGCAGCTTGGATGAAGAGGGAAGACCCCTCACACAGCCTCTCCTGGGCTCACAGGAGGGCGGAGCCCGGGGAGCCAGTTCCTGAAACATGCCCCCCATTCCCCCCCCGCCCACCCCCCACTCCCCGCTTTCCTGACCA... | GTGGGTGGCAGGTGGGGGTGGGCTGCTGGCCATGAATCTCTGCCTCTCCCAGGCTGTCCCCCTCCTCCCAGGGCCTCCTGGGGGACCTTTGTATTAAGCCAATTAAAAACATGAATTTAAAAAAAAAAAAAAATTCCAGCCCCTCCCACTGCCTTGCCTCTTGAGGGAAGAGAAAGGCAGGCAGCAGCTTGGATGAAGAGGGAAGACCCCTCACACAGCCTCTCCTGGGCTCACAGGAGGGCGGAGCCCGGGGAGCCAGTTCCTGAAACATGCCCCCCATTCCCCCCCCGCCCACCCCCCACTCCCCGCTTTCCTGACCA... | pathogenic | 270,425 |
Variant at chromosome position 39665447, chromosome 17, gene TCAP (titin-cap): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Abnormality_of_the_musculature', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2G', 'Elevated_circulating_creatine_kinase_concentration'] | CCCAGGCTGTCCCCCTCCTCCCAGGGCCTCCTGGGGGACCTTTGTATTAAGCCAATTAAAAACATGAATTTAAAAAAAAAAAAAAATTCCAGCCCCTCCCACTGCCTTGCCTCTTGAGGGAAGAGAAAGGCAGGCAGCAGCTTGGATGAAGAGGGAAGACCCCTCACACAGCCTCTCCTGGGCTCACAGGAGGGCGGAGCCCGGGGAGCCAGTTCCTGAAACATGCCCCCCATTCCCCCCCCGCCCACCCCCCACTCCCCGCTTTCCTGACCAGTTCAACTGAGCAGATGACTGGTCAGAAAAAAATGCCCCGCCCCCTG... | CCCAGGCTGTCCCCCTCCTCCCAGGGCCTCCTGGGGGACCTTTGTATTAAGCCAATTAAAAACATGAATTTAAAAAAAAAAAAAAATTCCAGCCCCTCCCACTGCCTTGCCTCTTGAGGGAAGAGAAAGGCAGGCAGCAGCTTGGATGAAGAGGGAAGACCCCTCACACAGCCTCTCCTGGGCTCACAGGAGGGCGGAGCCCGGGGAGCCAGTTCCTGAAACATGCCCCCCATTCCCCCCCCGCCCACCCCCCACTCCCCGCTTTCCTGACCAGTTCAACTGAGCAGATGACTGGTCAGAAAAAAATGCCCCGCCCCCTG... | pathogenic | 270,432 |
Variant on chromosome 17, at position 39665466, affecting TCAP (titin-cap): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2G', 'Cardiovascular_phenotype', 'Hypertrophic_cardiomyopathy_25', 'Primary_familial_hypertrophic_cardiomyopathy'] | CCCAGGGCCTCCTGGGGGACCTTTGTATTAAGCCAATTAAAAACATGAATTTAAAAAAAAAAAAAAATTCCAGCCCCTCCCACTGCCTTGCCTCTTGAGGGAAGAGAAAGGCAGGCAGCAGCTTGGATGAAGAGGGAAGACCCCTCACACAGCCTCTCCTGGGCTCACAGGAGGGCGGAGCCCGGGGAGCCAGTTCCTGAAACATGCCCCCCATTCCCCCCCCGCCCACCCCCCACTCCCCGCTTTCCTGACCAGTTCAACTGAGCAGATGACTGGTCAGAAAAAAATGCCCCGCCCCCTGCCAGGCTTCAGCGGGGCAA... | CCCAGGGCCTCCTGGGGGACCTTTGTATTAAGCCAATTAAAAACATGAATTTAAAAAAAAAAAAAAATTCCAGCCCCTCCCACTGCCTTGCCTCTTGAGGGAAGAGAAAGGCAGGCAGCAGCTTGGATGAAGAGGGAAGACCCCTCACACAGCCTCTCCTGGGCTCACAGGAGGGCGGAGCCCGGGGAGCCAGTTCCTGAAACATGCCCCCCATTCCCCCCCCGCCCACCCCCCACTCCCCGCTTTCCTGACCAGTTCAACTGAGCAGATGACTGGTCAGAAAAAAATGCCCCGCCCCCTGCCAGGCTTCAGCGGGGCAA... | pathogenic | 270,434 |
Variant on chromosome 17, at position 39665697, affecting TCAP (titin-cap): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CCCACTCCCCGCTTTCCTGACCAGTTCAACTGAGCAGATGACTGGTCAGAAAAAAATGCCCCGCCCCCTGCCAGGCTTCAGCGGGGCAAGTTTAAAGTCTCTAGTCCAGGAATGGAGGTGGGGGTATGGGCACCTGGCAGTGCCCACAGCAAGCCTTGACTGTGTGGCCTGGAGATGGGGCCTGAGCTTCAGGGTCACTGAGGCACCTCTGGGATCCAGGCCACCTGGAGCCCCGGACCTCCCAGACTCCACTCACCCATTCCCTCTCCCCGCACGGCACTCACACCAGGGGCGGCCTGGAGCCCGGATCGCAGGGCGGG... | CCCACTCCCCGCTTTCCTGACCAGTTCAACTGAGCAGATGACTGGTCAGAAAAAAATGCCCCGCCCCCTGCCAGGCTTCAGCGGGGCAAGTTTAAAGTCTCTAGTCCAGGAATGGAGGTGGGGGTATGGGCACCTGGCAGTGCCCACAGCAAGCCTTGACTGTGTGGCCTGGAGATGGGGCCTGAGCTTCAGGGTCACTGAGGCACCTCTGGGATCCAGGCCACCTGGAGCCCCGGACCTCCCAGACTCCACTCACCCATTCCCTCTCCCCGCACGGCACTCACACCAGGGGCGGCCTGGAGCCCGGATCGCAGGGCGGG... | benign | 270,438 |
Determine if the mutation at chromosome 17, position 39674659 in gene PGAP3 (post-GPI attachment to proteins phospholipase 3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hyperphosphatasia_with_intellectual_disability_syndrome_4'] | CTTCCCTAGAACAGACTCCAAGGCTGGTGAGGGCCAACAGGGGGTGGGCTGGCCACATGATTCTGGGCCCACATCCTTCATGTCCAAGTTCAAGAAGTTGAAAAGAGAAAATCATCTCAAGGGTTGAGGGGAGAAGGGAGGCCAGCAGGGCGGGGGCAGGATCCCCACTGGGGCAGACTCGCTCCAAGGTCTTCAGTCCAGCTTGAACTTGTCCTCTGATTCCTTCAGCAGGTACAGGCTGTCATCTTCCAGAAAGCTGTGGGCCAAAGGAGTAGCCCATTGAGGCACACAGCTCTGACAGCTCGCATGGAGACAAGGGT... | CTTCCCTAGAACAGACTCCAAGGCTGGTGAGGGCCAACAGGGGGTGGGCTGGCCACATGATTCTGGGCCCACATCCTTCATGTCCAAGTTCAAGAAGTTGAAAAGAGAAAATCATCTCAAGGGTTGAGGGGAGAAGGGAGGCCAGCAGGGCGGGGGCAGGATCCCCACTGGGGCAGACTCGCTCCAAGGTCTTCAGTCCAGCTTGAACTTGTCCTCTGATTCCTTCAGCAGGTACAGGCTGTCATCTTCCAGAAAGCTGTGGGCCAAAGGAGTAGCCCATTGAGGCACACAGCTCTGACAGCTCGCATGGAGACAAGGGT... | pathogenic | 270,488 |
Gene mutation in PGAP3 (post-GPI attachment to proteins phospholipase 3) at chromosome 17, position 39684626—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hyperphosphatasia_with_intellectual_disability_syndrome_4'] | AAACACAGCTCAAGTGTACTTCTCTTCAATGCCCAAGACCCATGCCACCTCTCTAGTCTAGCTACTGGGCCCTGTGCTAAAACTACCAACTGGTCTACTGCATCCACTCCCGCCCCCTTCAATCTGTTCTCTACACAGTAGCCAGAATGAGCTTTCCAAAGGGCAAATCTATTCATGAAACAACTTTTCTCCTCAACCCTCATTTAAAATCCCTCCGTAGGCCGAGCACGGTGGCTGATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGT... | AAACACAGCTCAAGTGTACTTCTCTTCAATGCCCAAGACCCATGCCACCTCTCTAGTCTAGCTACTGGGCCCTGTGCTAAAACTACCAACTGGTCTACTGCATCCACTCCCGCCCCCTTCAATCTGTTCTCTACACAGTAGCCAGAATGAGCTTTCCAAAGGGCAAATCTATTCATGAAACAACTTTTCTCCTCAACCCTCATTTAAAATCCCTCCGTAGGCCGAGCACGGTGGCTGATGCCTGTAATCCCAGCACTTTGGGAGGGTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGT... | pathogenic | 270,492 |
A genetic variant on chromosome 17, position 40632281, affects the gene SMARCE1 (SWI/SNF related BAF chromatin remodeling complex subunit E1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_meningioma'] | AATCAGTATACCTAGAAGTAAGGGTTTTTCTAGGACAGAGCTGGCAATTTTTTTCTGTAAAGAGCCAGATAGAAAATATTTTAGACTTCGCAGGCCAGGCAGTTGTTGTTGCAACTACTCAACTATACTGTTTTATCCCCAAAGCAGCCACAGACAGTATGTAAACAAACAAGTGTGGCTGTGTTCCAGTTTTATTTACAAAAACAAGTGGTGGGCAGGATTGGCTTACAGGTATTACTTTGCAGAATGCTGTCCTAGGACACCAAAGACAATTAATCTTAACGGTAATAACCACATCTTGATAAATAATGTAAGCATTT... | AATCAGTATACCTAGAAGTAAGGGTTTTTCTAGGACAGAGCTGGCAATTTTTTTCTGTAAAGAGCCAGATAGAAAATATTTTAGACTTCGCAGGCCAGGCAGTTGTTGTTGCAACTACTCAACTATACTGTTTTATCCCCAAAGCAGCCACAGACAGTATGTAAACAAACAAGTGTGGCTGTGTTCCAGTTTTATTTACAAAAACAAGTGGTGGGCAGGATTGGCTTACAGGTATTACTTTGCAGAATGCTGTCCTAGGACACCAAAGACAATTAATCTTAACGGTAATAACCACATCTTGATAAATAATGTAAGCATTT... | pathogenic | 270,654 |
Regarding the variant found on chromosome 17 at position 40632321 in gene SMARCE1 (SWI/SNF related BAF chromatin remodeling complex subunit E1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_meningioma'] | CTGGCAATTTTTTTCTGTAAAGAGCCAGATAGAAAATATTTTAGACTTCGCAGGCCAGGCAGTTGTTGTTGCAACTACTCAACTATACTGTTTTATCCCCAAAGCAGCCACAGACAGTATGTAAACAAACAAGTGTGGCTGTGTTCCAGTTTTATTTACAAAAACAAGTGGTGGGCAGGATTGGCTTACAGGTATTACTTTGCAGAATGCTGTCCTAGGACACCAAAGACAATTAATCTTAACGGTAATAACCACATCTTGATAAATAATGTAAGCATTTAAAGGTTAAAATACTGAATGTCAATATCATGTCAAATTTA... | CTGGCAATTTTTTTCTGTAAAGAGCCAGATAGAAAATATTTTAGACTTCGCAGGCCAGGCAGTTGTTGTTGCAACTACTCAACTATACTGTTTTATCCCCAAAGCAGCCACAGACAGTATGTAAACAAACAAGTGTGGCTGTGTTCCAGTTTTATTTACAAAAACAAGTGGTGGGCAGGATTGGCTTACAGGTATTACTTTGCAGAATGCTGTCCTAGGACACCAAAGACAATTAATCTTAACGGTAATAACCACATCTTGATAAATAATGTAAGCATTTAAAGGTTAAAATACTGAATGTCAATATCATGTCAAATTTA... | pathogenic | 270,660 |
Evaluate the clinical significance of the mutation at chromosome 17, position 40632354 in gene SMARCE1 (SWI/SNF related BAF chromatin remodeling complex subunit E1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_meningioma', 'Hereditary_cancer-predisposing_syndrome'] | AAATATTTTAGACTTCGCAGGCCAGGCAGTTGTTGTTGCAACTACTCAACTATACTGTTTTATCCCCAAAGCAGCCACAGACAGTATGTAAACAAACAAGTGTGGCTGTGTTCCAGTTTTATTTACAAAAACAAGTGGTGGGCAGGATTGGCTTACAGGTATTACTTTGCAGAATGCTGTCCTAGGACACCAAAGACAATTAATCTTAACGGTAATAACCACATCTTGATAAATAATGTAAGCATTTAAAGGTTAAAATACTGAATGTCAATATCATGTCAAATTTAGTACTGGGAATCACCCTCAGTGGCAGGTACCAG... | AAATATTTTAGACTTCGCAGGCCAGGCAGTTGTTGTTGCAACTACTCAACTATACTGTTTTATCCCCAAAGCAGCCACAGACAGTATGTAAACAAACAAGTGTGGCTGTGTTCCAGTTTTATTTACAAAAACAAGTGGTGGGCAGGATTGGCTTACAGGTATTACTTTGCAGAATGCTGTCCTAGGACACCAAAGACAATTAATCTTAACGGTAATAACCACATCTTGATAAATAATGTAAGCATTTAAAGGTTAAAATACTGAATGTCAATATCATGTCAAATTTAGTACTGGGAATCACCCTCAGTGGCAGGTACCAG... | pathogenic | 270,667 |
Determine whether the variant at chromosome 17, position 40636488, in gene SMARCE1 (SWI/SNF related BAF chromatin remodeling complex subunit E1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_meningioma', 'Hereditary_cancer-predisposing_syndrome'] | TCTTTTGATAGTCCTCTGTTAAAGAAGTCAGTAGCTGTTGTACTTCATGCAGATGCCACCTTTCTGTTATGTACATTTGACATACATTTCCACCTCCCAAGTATTCCTCTTTCTAATCATTTTCGTACTGGTATGCTAAAGACATTCTCATATTGGCATCTTAATTGCTACCTGAATTTACTAGCAACTTTAAGACCCAATCTGAAAGTTAAAAACATCATAGGCCCAAGTTTCAGACTGTTTCTGAGTGAATCTCTTTAGTCCTTCTCAGTGTTCATGGTGTTAATGAAAGCTTTAGTTATTTTCTACTTACGTTGCTA... | TCTTTTGATAGTCCTCTGTTAAAGAAGTCAGTAGCTGTTGTACTTCATGCAGATGCCACCTTTCTGTTATGTACATTTGACATACATTTCCACCTCCCAAGTATTCCTCTTTCTAATCATTTTCGTACTGGTATGCTAAAGACATTCTCATATTGGCATCTTAATTGCTACCTGAATTTACTAGCAACTTTAAGACCCAATCTGAAAGTTAAAAACATCATAGGCCCAAGTTTCAGACTGTTTCTGAGTGAATCTCTTTAGTCCTTCTCAGTGTTCATGGTGTTAATGAAAGCTTTAGTTATTTTCTACTTACGTTGCTA... | pathogenic | 270,706 |
A genetic variant on chromosome 17, position 40642518, affects the gene SMARCE1 (SWI/SNF related BAF chromatin remodeling complex subunit E1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_meningioma'] | TTCACAGATTCGTTCCTTGAAAACCACTAATGCAATCTGCGCACAACAATACCATACAGGAGCTTCCCCTCACCCCCAAAAGTAATGCATAACTAGGGTCATAGTAAAATCAAAATGCTTTTATTATGGTCAAAATCAGAGCCATTGAGTCCTAACAGCTTAAACTAGATATAGAAAGCAGGGCAAGTAGTGTAAAACCTCCACATTTTCTAGGCCCTTCTTCATATAGCAGTTTGATTATACTTCAATTTGGTGTTAAGAGGACAATAATACAAAGTAAATGTCCACAAAGGACCAAAACACCAAATTTTCCATGTCCA... | TTCACAGATTCGTTCCTTGAAAACCACTAATGCAATCTGCGCACAACAATACCATACAGGAGCTTCCCCTCACCCCCAAAAGTAATGCATAACTAGGGTCATAGTAAAATCAAAATGCTTTTATTATGGTCAAAATCAGAGCCATTGAGTCCTAACAGCTTAAACTAGATATAGAAAGCAGGGCAAGTAGTGTAAAACCTCCACATTTTCTAGGCCCTTCTTCATATAGCAGTTTGATTATACTTCAATTTGGTGTTAAGAGGACAATAATACAAAGTAAATGTCCACAAAGGACCAAAACACCAAATTTTCCATGTCCA... | pathogenic | 270,731 |
Considering the genetic mutation at chromosome 17, position 40818851, impacting KRT10 (keratin 10): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GTGTACTTGCCTCGTATCAGTGGTATTGAATATAAAAAATCTATTTCTTCAGAATAAGGTGAATGGTAACCTCAGATTATAAGTACAATAGGTCCCGGGGATTTGGTTAACCTTATAATACATATTTTAAAAGATGGTGTTTCTGAACAGCAGGCAGTATAGCACTATTTACACAGTAGGAGTTCAGAGTCCTTATACAGCGACGTAAGGACTTCACAGTGTTTCAGGGCTCTACGCAGTGAGGCGTGTTGGGACTTCAATAGTGGATCTGAGAAGACTGGCTCCCAAGGTTAGCTGGTACAAATATCCAGAGGCATGTG... | GTGTACTTGCCTCGTATCAGTGGTATTGAATATAAAAAATCTATTTCTTCAGAATAAGGTGAATGGTAACCTCAGATTATAAGTACAATAGGTCCCGGGGATTTGGTTAACCTTATAATACATATTTTAAAAGATGGTGTTTCTGAACAGCAGGCAGTATAGCACTATTTACACAGTAGGAGTTCAGAGTCCTTATACAGCGACGTAAGGACTTCACAGTGTTTCAGGGCTCTACGCAGTGAGGCGTGTTGGGACTTCAATAGTGGATCTGAGAAGACTGGCTCCCAAGGTTAGCTGGTACAAATATCCAGAGGCATGTG... | benign | 270,754 |
A genetic alteration at chromosome 17, position 40818999, in gene KRT10 (keratin 10)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | AGCAGGCAGTATAGCACTATTTACACAGTAGGAGTTCAGAGTCCTTATACAGCGACGTAAGGACTTCACAGTGTTTCAGGGCTCTACGCAGTGAGGCGTGTTGGGACTTCAATAGTGGATCTGAGAAGACTGGCTCCCAAGGTTAGCTGGTACAAATATCCAGAGGCATGTGAGCATTTAGACATTTAGGCATTTAGAGGCACAGGAACGAAAATGGAGAGCCTCTGGGCTGTGCTAATATTTGGTGCTAAGCAGGTTATGAAGCCTTGACTATAGGGAAATCCATCCCATTGAAACAAGGCTCCTGTCATCAATTTGGG... | AGCAGGCAGTATAGCACTATTTACACAGTAGGAGTTCAGAGTCCTTATACAGCGACGTAAGGACTTCACAGTGTTTCAGGGCTCTACGCAGTGAGGCGTGTTGGGACTTCAATAGTGGATCTGAGAAGACTGGCTCCCAAGGTTAGCTGGTACAAATATCCAGAGGCATGTGAGCATTTAGACATTTAGGCATTTAGAGGCACAGGAACGAAAATGGAGAGCCTCTGGGCTGTGCTAATATTTGGTGCTAAGCAGGTTATGAAGCCTTGACTATAGGGAAATCCATCCCATTGAAACAAGGCTCCTGTCATCAATTTGGG... | benign | 270,760 |
Gene KRT10 variant at chromosome position 40822513 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCAT... | ATAATGAACTCTCTTTTGGCTGGGAAAAGTATAACTTTTGTGTCACCTCCTCGTGGTTCTTCTTCAGATAGGCCAGCTCTTCAGTCAGGCTCTCAATTTGCATCTCCAGGTCAGCCTTGGTCAGGGTCAGCTCATCCAGCACCCTACGCAGGCCGTTGATGTCAGCCTCCACGCTCTGGCGCAGAGCTACCTCATTCTCATACCTGAAACAAGCATGATATCAATACTGGTTATAACTTATATAGGGGAGATGTATCTGGGCAGAGACTATTTAAAAAGCAGCTACATAGTTGATCTCATGTAATGGCAATATTTGTCAT... | benign | 270,783 |
Evaluate the clinical significance of the mutation at chromosome 17, position 41586597 in gene KRT14 (keratin 14): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | GTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTT... | GTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTT... | benign | 270,886 |
Benign or pathogenic: chromosome 17, position 41586742, gene KRT14 (keratin 14) variant? Disease(s) if pathogenic? | pathogenic; ['Abnormality_of_the_skin', 'Epidermolysis_bullosa_simplex_1D,_generalized,_intermediate_or_severe,_autosomal_recessive', 'Sjögren-Larsson_syndrome'] | CCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCA... | CCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCA... | pathogenic | 270,893 |
Regarding the variant found on chromosome 17 at position 41586753 in gene KRT14 (keratin 14): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAG... | TTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAG... | benign | 270,894 |
Determine whether the variant at chromosome 17, position 41624217, in gene KRT17 (keratin 17) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Pachyonychia_congenita_2', 'Steatocystoma_multiplex'] | ACAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGC... | ACAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGC... | pathogenic | 270,924 |
Considering the variant on chromosome 17, location 41757421, involving gene JUP (junction plakoglobin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Arrhythmogenic_right_ventricular_dysplasia_12', 'Naxos_disease'] | GGCACTTTTCTGTCTTGCCCCATCGCCTGCACGGAGAGCCTCTCAGATGAGGAACCGCACCTGTTAGGGGAGCGGGGACAGACAGGGGTCAGGGGCTCGGTGGACCTGCATCCCCAGAAGCTCAAGCCACTCCGTGTCACCTGCCCACCACCCCCAGAAGGGGCCAGCAGGAATAGGCCTCCCCATCCCCACCAAAGACACAAGAAGAAGGCAGGCCAGGGCACACCGTGCTTGGGGAAGCTCAGCAGCAAAGGATCCCCCCAAAAAAGGAGCGCAGGTTTCAGCGGGGAGATGGGAGGGCCTCCAACAGAAGGAGGTTC... | GGCACTTTTCTGTCTTGCCCCATCGCCTGCACGGAGAGCCTCTCAGATGAGGAACCGCACCTGTTAGGGGAGCGGGGACAGACAGGGGTCAGGGGCTCGGTGGACCTGCATCCCCAGAAGCTCAAGCCACTCCGTGTCACCTGCCCACCACCCCCAGAAGGGGCCAGCAGGAATAGGCCTCCCCATCCCCACCAAAGACACAAGAAGAAGGCAGGCCAGGGCACACCGTGCTTGGGGAAGCTCAGCAGCAAAGGATCCCCCCAAAAAAGGAGCGCAGGTTTCAGCGGGGAGATGGGAGGGCCTCCAACAGAAGGAGGTTC... | pathogenic | 270,963 |
Does the variant impacting JUP (junction plakoglobin) on chromosome 17, position 41767582, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAGGCAATTCACCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACACCCAGCCCACCCCAATAGTTTCATGACTGTTATGTAAGCCAAAATTTTGAAAAAAGGATAATACCCAGTGCTGACAAGGACATGACAAAACTATATGCACACCCATTACCAGTTATGGCACTGGAAATTAGTCCAGTCCTTCTGGAAATCAATCTGGCCATTTGGGGAAAAGCCTAGAAGTGTTAAAAATTGATGAGAATTTTTTCCG... | GTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAGGCAATTCACCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCACACCCAGCCCACCCCAATAGTTTCATGACTGTTATGTAAGCCAAAATTTTGAAAAAAGGATAATACCCAGTGCTGACAAGGACATGACAAAACTATATGCACACCCATTACCAGTTATGGCACTGGAAATTAGTCCAGTCCTTCTGGAAATCAATCTGGCCATTTGGGGAAAAGCCTAGAAGTGTTAAAAATTGATGAGAATTTTTTCCG... | benign | 271,060 |
Variant at chromosome 17, position 41769222, gene JUP (junction plakoglobin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TAGTGGCTATATGAGGATGAGTGATTTTTTTTTTCCCTTATCCTCAAAATAATAATTCTGGGCAATTCAGTCGCATGATGAAGCATGTATATCTGCACCTATATCTCATCTAAAAGGAGTAAGGGGGCAGCGGCCCAAGGCTGTGCAGGATAGAAGATGGCGCAAGGGTGGGCTTCAGGCCTCGGGAGAGTTGGGGAGGGCCCACCTTGCTCTCCTGGTTGCCGTAGGCCAGGAGCTGCAGGCAGTCGGTGGTGATGGCCAGGAACTTGGGGTTGTTCTTGTTGAGCAGGGGCACCATCTTTTGCAGCCCGTCGGCCAGG... | TAGTGGCTATATGAGGATGAGTGATTTTTTTTTTCCCTTATCCTCAAAATAATAATTCTGGGCAATTCAGTCGCATGATGAAGCATGTATATCTGCACCTATATCTCATCTAAAAGGAGTAAGGGGGCAGCGGCCCAAGGCTGTGCAGGATAGAAGATGGCGCAAGGGTGGGCTTCAGGCCTCGGGAGAGTTGGGGAGGGCCCACCTTGCTCTCCTGGTTGCCGTAGGCCAGGAGCTGCAGGCAGTCGGTGGTGATGGCCAGGAACTTGGGGTTGTTCTTGTTGAGCAGGGGCACCATCTTTTGCAGCCCGTCGGCCAGG... | benign | 271,079 |
The genetic variant at chromosome 17, position 41813048, affecting gene FKBP10 (FKBP prolyl isomerase 10): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Osteogenesis_imperfecta_type_11'] | CTGTTGTAGAGCTTCACAGCCCGGAGGAACACGGCCTGGAAGGGGCGTGGCAGGGGGAGTCAGGGCGCCCCCAACATCTCCCCTCCTCTACTAGCCCTCCTCTACAAGCCTCCTCCTGACCCTCCACCCCACCTCGTAGGGCTGGGCCTCTAGGTCCGTGAGGGACTCGTCGGCGACGTCCAGCATCCCCTGATAGTAGTTGAGATACTTGGCGGTCAGCTCGTGCTTCGGGTTCCTCTGGAGGAAGGTGTAGGCCGCCGCCACCGCCTTCTCCAGCCGGTTAGCCTGGTCGGGGGGTAGGGGGTGGGGGAGCGGGTCAG... | CTGTTGTAGAGCTTCACAGCCCGGAGGAACACGGCCTGGAAGGGGCGTGGCAGGGGGAGTCAGGGCGCCCCCAACATCTCCCCTCCTCTACTAGCCCTCCTCTACAAGCCTCCTCCTGACCCTCCACCCCACCTCGTAGGGCTGGGCCTCTAGGTCCGTGAGGGACTCGTCGGCGACGTCCAGCATCCCCTGATAGTAGTTGAGATACTTGGCGGTCAGCTCGTGCTTCGGGTTCCTCTGGAGGAAGGTGTAGGCCGCCGCCACCGCCTTCTCCAGCCGGTTAGCCTGGTCGGGGGGTAGGGGGTGGGGGAGCGGGTCAG... | pathogenic | 271,118 |
Does the variant on chromosome 17 at location 41817047 affecting gene FKBP10 (FKBP prolyl isomerase 10) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | CCTCTGCCTCCCAGGTTCACGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCACACCACCACACCCGGCTAATTTTTTTGTATTTTTAGTAGAGAGGGGTTTCACTATGTTGGCCAGACTGGTCTTGAAAAAGGCGGGTGGGTATTATAAGAAGACAGCCAGCTGGACCTGGGGGTAGGGCATGGCTCCCTGCGGAGGCCCTGTCTGTCTACGTGTCACACAGTCAGACATGCCACCCCAGCCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACGGCGCCCA... | CCTCTGCCTCCCAGGTTCACGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCACACCACCACACCCGGCTAATTTTTTTGTATTTTTAGTAGAGAGGGGTTTCACTATGTTGGCCAGACTGGTCTTGAAAAAGGCGGGTGGGTATTATAAGAAGACAGCCAGCTGGACCTGGGGGTAGGGCATGGCTCCCTGCGGAGGCCCTGTCTGTCTACGTGTCACACAGTCAGACATGCCACCCCAGCCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACGGCGCCCA... | benign | 271,123 |
Clinical significance of chromosome 17, position 41817047, gene FKBP10 (FKBP prolyl isomerase 10): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CCTCTGCCTCCCAGGTTCACGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCACACCACCACACCCGGCTAATTTTTTTGTATTTTTAGTAGAGAGGGGTTTCACTATGTTGGCCAGACTGGTCTTGAAAAAGGCGGGTGGGTATTATAAGAAGACAGCCAGCTGGACCTGGGGGTAGGGCATGGCTCCCTGCGGAGGCCCTGTCTGTCTACGTGTCACACAGTCAGACATGCCACCCCAGCCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACGGCGCCCA... | CCTCTGCCTCCCAGGTTCACGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCACACCACCACACCCGGCTAATTTTTTTGTATTTTTAGTAGAGAGGGGTTTCACTATGTTGGCCAGACTGGTCTTGAAAAAGGCGGGTGGGTATTATAAGAAGACAGCCAGCTGGACCTGGGGGTAGGGCATGGCTCCCTGCGGAGGCCCTGTCTGTCTACGTGTCACACAGTCAGACATGCCACCCCAGCCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACGGCGCCCA... | benign | 271,124 |
A mutation at chromosome position 41817164 on chromosome 17 in gene FKBP10 (FKBP prolyl isomerase 10): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Osteogenesis_imperfecta'] | ACTATGTTGGCCAGACTGGTCTTGAAAAAGGCGGGTGGGTATTATAAGAAGACAGCCAGCTGGACCTGGGGGTAGGGCATGGCTCCCTGCGGAGGCCCTGTCTGTCTACGTGTCACACAGTCAGACATGCCACCCCAGCCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACGGCGCCCAGCCTTAATTTTTCATATTTTAGTAGAGATGGCGTTTCACCATGTTGCTCAGGCTGGTCACAAACTTCTGAGCTCAGGCAATCCACCCTCCTCAGCCTCCCAAAGTGCTAGAATTACA... | ACTATGTTGGCCAGACTGGTCTTGAAAAAGGCGGGTGGGTATTATAAGAAGACAGCCAGCTGGACCTGGGGGTAGGGCATGGCTCCCTGCGGAGGCCCTGTCTGTCTACGTGTCACACAGTCAGACATGCCACCCCAGCCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACGGCGCCCAGCCTTAATTTTTCATATTTTAGTAGAGATGGCGTTTCACCATGTTGCTCAGGCTGGTCACAAACTTCTGAGCTCAGGCAATCCACCCTCCTCAGCCTCCCAAAGTGCTAGAATTACA... | pathogenic | 271,128 |
Evaluate the clinical significance of the mutation at chromosome 17, position 41818528 in gene FKBP10 (FKBP prolyl isomerase 10): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Bruck_syndrome_1', 'Osteogenesis_imperfecta_type_11'] | TCCCACCCCACCTCTGCTCTCCCGTCTTTTCTTGGAGAGCCAATAGTATAATGGCAAATTTTAGAACTCAGCTGACTACATATTAGCTGTGTGACCTTGGGCAAGGCACTGAGTCTCTCAAGTCTCCATTGCTCTCATTAAGAAAAATGAGAACAAGAATGCCCACCTCACAGGGGAGACAAAGAAGATACGGAATGTAAAATGCCAAGCATTTAATCCCATATAGTAATGCTCCTCTGCCCCTCCGTGCTGTACGTACCACTCCCCACTTGCTGTCAGCAAATAGTAGCAGCCATCAGGCCCGGGCATCCCACCCAACC... | TCCCACCCCACCTCTGCTCTCCCGTCTTTTCTTGGAGAGCCAATAGTATAATGGCAAATTTTAGAACTCAGCTGACTACATATTAGCTGTGTGACCTTGGGCAAGGCACTGAGTCTCTCAAGTCTCCATTGCTCTCATTAAGAAAAATGAGAACAAGAATGCCCACCTCACAGGGGAGACAAAGAAGATACGGAATGTAAAATGCCAAGCATTTAATCCCATATAGTAATGCTCCTCTGCCCCTCCGTGCTGTACGTACCACTCCCCACTTGCTGTCAGCAAATAGTAGCAGCCATCAGGCCCGGGCATCCCACCCAACC... | pathogenic | 271,137 |
Determine if the mutation at chromosome 17, position 41819219 in gene FKBP10 (FKBP prolyl isomerase 10) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Bruck_syndrome_1', 'Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_11'] | CTCCCCACCTGGGCTATGGGAGCATCGGCCTGGGTGAGAAGGGCTGGGGCACAGGCCGGGGGTGGAGGAGACCACGAGGCAGAATCAGGGATCCTGGGGTGAGAAAACTGAAGTGCGGAGATGAGGAGTGACTTGCCCAATGTCACACTGTGCACGCAGTATGAAGAGTGGCAGCTCTGGCTGGGGCAGTAGCTGACATATATGGTCCCAGAGTTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAACCCAGGAGTTCCAGACCAGCCTAGGCAACATAGTGAGACCTCGTCTCTACAAAAAATAAAATAAATTATCCAGG... | CTCCCCACCTGGGCTATGGGAGCATCGGCCTGGGTGAGAAGGGCTGGGGCACAGGCCGGGGGTGGAGGAGACCACGAGGCAGAATCAGGGATCCTGGGGTGAGAAAACTGAAGTGCGGAGATGAGGAGTGACTTGCCCAATGTCACACTGTGCACGCAGTATGAAGAGTGGCAGCTCTGGCTGGGGCAGTAGCTGACATATATGGTCCCAGAGTTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAACCCAGGAGTTCCAGACCAGCCTAGGCAACATAGTGAGACCTCGTCTCTACAAAAAATAAAATAAATTATCCAGG... | pathogenic | 271,142 |
The mutation impacting FKBP10 (FKBP prolyl isomerase 10) on chromosome 17 at position 41819306: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Abnormality_of_the_skeletal_system', 'Bruck_syndrome_1', 'Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_11', 'Osteogenesis_imperfecta_type_12'] | GGGATCCTGGGGTGAGAAAACTGAAGTGCGGAGATGAGGAGTGACTTGCCCAATGTCACACTGTGCACGCAGTATGAAGAGTGGCAGCTCTGGCTGGGGCAGTAGCTGACATATATGGTCCCAGAGTTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAACCCAGGAGTTCCAGACCAGCCTAGGCAACATAGTGAGACCTCGTCTCTACAAAAAATAAAATAAATTATCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAACTACTCAGAAGGCTCAGGTGGGAGGATTGCTTGACCCCGGGAGGCTGCAGTGAGCCATGA... | GGGATCCTGGGGTGAGAAAACTGAAGTGCGGAGATGAGGAGTGACTTGCCCAATGTCACACTGTGCACGCAGTATGAAGAGTGGCAGCTCTGGCTGGGGCAGTAGCTGACATATATGGTCCCAGAGTTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAACCCAGGAGTTCCAGACCAGCCTAGGCAACATAGTGAGACCTCGTCTCTACAAAAAATAAAATAAATTATCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAACTACTCAGAAGGCTCAGGTGGGAGGATTGCTTGACCCCGGGAGGCTGCAGTGAGCCATGA... | pathogenic | 271,143 |
Variant at chromosome position 41819306, chromosome 17, gene FKBP10 (FKBP prolyl isomerase 10): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Bruck_syndrome_1', 'Osteogenesis_imperfecta_type_11'] | GGGATCCTGGGGTGAGAAAACTGAAGTGCGGAGATGAGGAGTGACTTGCCCAATGTCACACTGTGCACGCAGTATGAAGAGTGGCAGCTCTGGCTGGGGCAGTAGCTGACATATATGGTCCCAGAGTTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAACCCAGGAGTTCCAGACCAGCCTAGGCAACATAGTGAGACCTCGTCTCTACAAAAAATAAAATAAATTATCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAACTACTCAGAAGGCTCAGGTGGGAGGATTGCTTGACCCCGGGAGGCTGCAGTGAGCCATGA... | GGGATCCTGGGGTGAGAAAACTGAAGTGCGGAGATGAGGAGTGACTTGCCCAATGTCACACTGTGCACGCAGTATGAAGAGTGGCAGCTCTGGCTGGGGCAGTAGCTGACATATATGGTCCCAGAGTTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAACCCAGGAGTTCCAGACCAGCCTAGGCAACATAGTGAGACCTCGTCTCTACAAAAAATAAAATAAATTATCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAACTACTCAGAAGGCTCAGGTGGGAGGATTGCTTGACCCCGGGAGGCTGCAGTGAGCCATGA... | pathogenic | 271,144 |
Clinical classification of chromosome 17, position 41819356, gene FKBP10 (FKBP prolyl isomerase 10): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Bruck_syndrome_1', 'Osteogenesis_imperfecta'] | CAATGTCACACTGTGCACGCAGTATGAAGAGTGGCAGCTCTGGCTGGGGCAGTAGCTGACATATATGGTCCCAGAGTTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAACCCAGGAGTTCCAGACCAGCCTAGGCAACATAGTGAGACCTCGTCTCTACAAAAAATAAAATAAATTATCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAACTACTCAGAAGGCTCAGGTGGGAGGATTGCTTGACCCCGGGAGGCTGCAGTGAGCCATGATCATGCCACTGAATTCCACCCTGTGTGACAGAGCAAAACCCCTCTTTTTT... | CAATGTCACACTGTGCACGCAGTATGAAGAGTGGCAGCTCTGGCTGGGGCAGTAGCTGACATATATGGTCCCAGAGTTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAACCCAGGAGTTCCAGACCAGCCTAGGCAACATAGTGAGACCTCGTCTCTACAAAAAATAAAATAAATTATCCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAACTACTCAGAAGGCTCAGGTGGGAGGATTGCTTGACCCCGGGAGGCTGCAGTGAGCCATGATCATGCCACTGAATTCCACCCTGTGTGACAGAGCAAAACCCCTCTTTTTT... | pathogenic | 271,145 |
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