question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Is the genetic mutation found on chromosome 1 at position 94029446, within the gene ABCA4 (ATP binding cassette subfamily A member 4), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Macular_dystrophy', 'Retinal_dystrophy'] | TGACGTCCTGATGCTGGAGGGTTTTGAGTGGAGGCAGCCACAGGAGCCCTCAGCATTGACAGCAAAGCAAACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCC... | TGACGTCCTGATGCTGGAGGGTTTTGAGTGGAGGCAGCCACAGGAGCCCTCAGCATTGACAGCAAAGCAAACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCC... | pathogenic | 11,516 |
Chromosome 1, position 94030997, gene ABCA4 (ATP binding cassette subfamily A member 4): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinal_dystrophy', 'Severe_early-childhood-onset_retinal_dystrophy'] | TAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGG... | TAATATACAGATATTAAAAGTGATGCAGATGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGG... | pathogenic | 11,555 |
Mutation at chromosome 1, position 94031026, within ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Age_related_macular_degeneration_2', 'Retinal_dystrophy', 'Stargardt_disease'] | TGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTC... | TGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTC... | pathogenic | 11,557 |
Mutation at chromosome 1, position 94031797, within ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Severe_early-childhood-onset_retinal_dystrophy'] | TTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTG... | TTATTCTCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTG... | pathogenic | 11,573 |
Is chromosome 1, position 94031868, gene ABCA4 (ATP binding cassette subfamily A member 4) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Severe_early-childhood-onset_retinal_dystrophy'] | GCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGC... | GCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGC... | pathogenic | 11,580 |
Clinical significance of chromosome 1, position 94031901, gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Severe_early-childhood-onset_retinal_dystrophy'] | TTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCA... | TTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACAATAGCATAACCCTATTTCCCTCCCTCCCTGCTCAGAGGCCTTTCAAATAAGTTATGGGGAATCA... | pathogenic | 11,581 |
A genetic variant on chromosome 1, position 94036742, affects the gene ABCA4. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic | TGACTTTAGGCAAACCCTCCAACCTCTGTGAGCTCAGTTCCCCCCAGATGGGGCAGACCCCTGCCCTGCCTGCTTCATAAGATTACAGTGATAATCAAATAAGACAATGGATGTTAAGTGCTTTGAGGTAAGAGATGGTTTGTAAACATTTAGTTTAGAGTTGCTAAGTCTTAATCAGTGATCGTATACTGTGTTATAAGTCGGCAAGCATTAACTCACTTAATTCTCTCAACAATGCTACAGGTAGATGCTATTATTATCTCCATTTTGCAGATGGGGAAACAGGTACAAAGAGGCTATGTACTTACCCAAAGCCAGTT... | TGACTTTAGGCAAACCCTCCAACCTCTGTGAGCTCAGTTCCCCCCAGATGGGGCAGACCCCTGCCCTGCCTGCTTCATAAGATTACAGTGATAATCAAATAAGACAATGGATGTTAAGTGCTTTGAGGTAAGAGATGGTTTGTAAACATTTAGTTTAGAGTTGCTAAGTCTTAATCAGTGATCGTATACTGTGTTATAAGTCGGCAAGCATTAACTCACTTAATTCTCTCAACAATGCTACAGGTAGATGCTATTATTATCTCCATTTTGCAGATGGGGAAACAGGTACAAAGAGGCTATGTACTTACCCAAAGCCAGTT... | pathogenic | 11,592 |
Evaluate the clinical significance of the mutation at chromosome 1, position 94040117 in gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Retinal_dystrophy', 'Severe_early-childhood-onset_retinal_dystrophy'] | AGTTTCTCTTGGGATTGCACCTGCCTCCACAAACAAAACTGAATCCTCAGGTCACAGGAAATGCAGAGGGGGGGTTGAGAAGCCATGGAGAGAGGCTGGGGGAGAGGGTAGGATATGCGGTGCGTATCATAGACTGTGAACAAGTGTCAGGTATCAACTGTTTATCTGACACATGTATACAGTCAGAATTGAATTTTATGTACAAATGTGTATTACTTTAAAATTAAAAATCTAACTGTGAAAACCTCACTTGCATGCACTTGAAGAGAGAGTTCTCTCGCACATTGTCTTGAGAGGCAGGTCAAAGGGAGAGGGATTCC... | AGTTTCTCTTGGGATTGCACCTGCCTCCACAAACAAAACTGAATCCTCAGGTCACAGGAAATGCAGAGGGGGGGTTGAGAAGCCATGGAGAGAGGCTGGGGGAGAGGGTAGGATATGCGGTGCGTATCATAGACTGTGAACAAGTGTCAGGTATCAACTGTTTATCTGACACATGTATACAGTCAGAATTGAATTTTATGTACAAATGTGTATTACTTTAAAATTAAAAATCTAACTGTGAAAACCTCACTTGCATGCACTTGAAGAGAGAGTTCTCTCGCACATTGTCTTGAGAGGCAGGTCAAAGGGAGAGGGATTCC... | pathogenic | 11,603 |
Mutation found at chromosome 1 position 94041338, gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic | CTCTTGCTTCACCAGATTTCAGTTAGTAAATTCTTAACATTTGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCT... | CTCTTGCTTCACCAGATTTCAGTTAGTAAATTCTTAACATTTGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCT... | pathogenic | 11,612 |
The mutation impacting ABCA4 (ATP binding cassette subfamily A member 4) on chromosome 1 at position 94042762: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Severe_early-childhood-onset_retinal_dystrophy'] | TCGCAGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATC... | TCGCAGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATC... | pathogenic | 11,626 |
Variant in ABCA4 (ATP binding cassette subfamily A member 4), chromosome 1, position 94042877—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['ABCA4-related_disorder', 'Bietti_crystalline_corneoretinal_dystrophy', 'Retinal_dystrophy', 'Severe_early-childhood-onset_retinal_dystrophy'] | TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCA... | TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCA... | pathogenic | 11,645 |
The genetic variant at chromosome 1, position 94043432, affecting gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cone-rod_dystrophy_3', 'Retinal_dystrophy', 'Severe_early-childhood-onset_retinal_dystrophy'] | GACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGA... | GACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGA... | pathogenic | 11,654 |
Gene mutation in ABCA4 (ATP binding cassette subfamily A member 4) at chromosome 1, position 94044242—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCA... | GTGTGAGTAGAGCAAGGGGGAAAGCTCTGGCTTGACCACGGGGTTGAACCGTGCTGTTACCTCTATGGGCACTCAGCTCTGCTTGCTGTCTCTTCTGATCTGAGCCCCTTGTCTGAGAGGTGCCATGACAGAGGAGCCACTTCCATCTGTGGCCACCCTCTGGAGCACTGAATGCCCAGCAGGTCACCCTCACACTGGTCCTGAGTGGTCATCTGACAGCTATGGAGCTTCTAGGTATGTTTGCAGGTGACCTGGGTCCCCATGGTCAGAGAAGACATTCACCTAGAGTAGCATCCATTATTCCAGACAGAAGGGCTGCA... | benign | 11,663 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 94044675, gene ABCA4 (ATP binding cassette subfamily A member 4): what disease(s) if pathogenic? | pathogenic; ['Retinal_dystrophy'] | CACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAG... | CACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAG... | pathogenic | 11,668 |
Regarding the variant found on chromosome 1 at position 94046948 in gene ABCA4 (ATP binding cassette subfamily A member 4): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cone-rod_dystrophy_3', 'Severe_early-childhood-onset_retinal_dystrophy', 'Stargardt_disease_3'] | CACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAG... | CACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAG... | pathogenic | 11,677 |
Mutation found at chromosome 1 position 94047007, gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Retinal_dystrophy'] | TCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCT... | TCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCT... | pathogenic | 11,682 |
A genetic variant on chromosome 1, position 94048897, affects the gene ABCA4 (ATP binding cassette subfamily A member 4). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['ABCA4-related_disorder', 'Retinal_dystrophy', 'Severe_early-childhood-onset_retinal_dystrophy'] | TGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCC... | TGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCC... | pathogenic | 11,688 |
Variant chromosome 1, position 94048919, gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? Disease(s)? | pathogenic; ['Generalized_choriocapillaris_dystrophy'] | GAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCA... | GAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTACATGGCCCCAGGGCTCTGTCTCCAGGCCCTTGTATTCTGCCTATAACGTCA... | pathogenic | 11,690 |
Evaluate this variant at chromosome 1, position 94056683, gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Age_related_macular_degeneration_2', 'Cone-rod_dystrophy_3', 'Retinitis_pigmentosa_19', 'Severe_early-childhood-onset_retinal_dystrophy'] | GTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAG... | GTGGCTGGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAG... | pathogenic | 11,718 |
Regarding the variant at chromosome 1 and position 94060627, affecting gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Retinal_dystrophy', 'Severe_early-childhood-onset_retinal_dystrophy'] | CTGGAACTCCTGACCTGAAGTGATCCACCTGCCTCTGTCTCCCAAAGTATTAGGGTTACAGGCGTGAGCCACCACGCCCAGCCTGAAATCAATTTCTTATCCTTGCTCAAAACAAAGTCCCATAAACTTTTAGGACTTCTAGGACCACAAACTTCTAGGACTTTTCACTGACTTAAGCCAGAGGTGTAATTCACTCTGTGACCCTACAGTTTCACCAGCTGTGGCTTCCTCAGATGGCCACTTTTCTTTTTGTTTCTAATAGCTCGAGTAACAAAGGGACCTTCCCATTGTCCCTGCTTCCAGCTTCTTTCCTGTGTTGT... | CTGGAACTCCTGACCTGAAGTGATCCACCTGCCTCTGTCTCCCAAAGTATTAGGGTTACAGGCGTGAGCCACCACGCCCAGCCTGAAATCAATTTCTTATCCTTGCTCAAAACAAAGTCCCATAAACTTTTAGGACTTCTAGGACCACAAACTTCTAGGACTTTTCACTGACTTAAGCCAGAGGTGTAATTCACTCTGTGACCCTACAGTTTCACCAGCTGTGGCTTCCTCAGATGGCCACTTTTCTTTTTGTTTCTAATAGCTCGAGTAACAAAGGGACCTTCCCATTGTCCCTGCTTCCAGCTTCTTTCCTGTGTTGT... | pathogenic | 11,727 |
Evaluate the clinical significance of the mutation at chromosome 1, position 94060641 in gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Age_related_macular_degeneration_2', 'Cone-rod_dystrophy_3', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_19', 'Severe_early-childhood-onset_retinal_dystrophy'] | CTGAAGTGATCCACCTGCCTCTGTCTCCCAAAGTATTAGGGTTACAGGCGTGAGCCACCACGCCCAGCCTGAAATCAATTTCTTATCCTTGCTCAAAACAAAGTCCCATAAACTTTTAGGACTTCTAGGACCACAAACTTCTAGGACTTTTCACTGACTTAAGCCAGAGGTGTAATTCACTCTGTGACCCTACAGTTTCACCAGCTGTGGCTTCCTCAGATGGCCACTTTTCTTTTTGTTTCTAATAGCTCGAGTAACAAAGGGACCTTCCCATTGTCCCTGCTTCCAGCTTCTTTCCTGTGTTGTTGAGGTGGGGAGGA... | CTGAAGTGATCCACCTGCCTCTGTCTCCCAAAGTATTAGGGTTACAGGCGTGAGCCACCACGCCCAGCCTGAAATCAATTTCTTATCCTTGCTCAAAACAAAGTCCCATAAACTTTTAGGACTTCTAGGACCACAAACTTCTAGGACTTTTCACTGACTTAAGCCAGAGGTGTAATTCACTCTGTGACCCTACAGTTTCACCAGCTGTGGCTTCCTCAGATGGCCACTTTTCTTTTTGTTTCTAATAGCTCGAGTAACAAAGGGACCTTCCCATTGTCCCTGCTTCCAGCTTCTTTCCTGTGTTGTTGAGGTGGGGAGGA... | pathogenic | 11,728 |
Assess the variant on chromosome 1, position 94060683, impacting ABCA4 (ATP binding cassette subfamily A member 4): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Retinitis_pigmentosa', 'Severe_early-childhood-onset_retinal_dystrophy'] | TACAGGCGTGAGCCACCACGCCCAGCCTGAAATCAATTTCTTATCCTTGCTCAAAACAAAGTCCCATAAACTTTTAGGACTTCTAGGACCACAAACTTCTAGGACTTTTCACTGACTTAAGCCAGAGGTGTAATTCACTCTGTGACCCTACAGTTTCACCAGCTGTGGCTTCCTCAGATGGCCACTTTTCTTTTTGTTTCTAATAGCTCGAGTAACAAAGGGACCTTCCCATTGTCCCTGCTTCCAGCTTCTTTCCTGTGTTGTTGAGGTGGGGAGGAAGAGACAAGGGAAAGGTGGGAGAGTCATTCAAAGGAAAACCC... | TACAGGCGTGAGCCACCACGCCCAGCCTGAAATCAATTTCTTATCCTTGCTCAAAACAAAGTCCCATAAACTTTTAGGACTTCTAGGACCACAAACTTCTAGGACTTTTCACTGACTTAAGCCAGAGGTGTAATTCACTCTGTGACCCTACAGTTTCACCAGCTGTGGCTTCCTCAGATGGCCACTTTTCTTTTTGTTTCTAATAGCTCGAGTAACAAAGGGACCTTCCCATTGTCCCTGCTTCCAGCTTCTTTCCTGTGTTGTTGAGGTGGGGAGGAAGAGACAAGGGAAAGGTGGGAGAGTCATTCAAAGGAAAACCC... | pathogenic | 11,731 |
Assess the variant on chromosome 1, position 94060690, impacting ABCA4 (ATP binding cassette subfamily A member 4): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Retinal_dystrophy', 'Severe_early-childhood-onset_retinal_dystrophy'] | GTGAGCCACCACGCCCAGCCTGAAATCAATTTCTTATCCTTGCTCAAAACAAAGTCCCATAAACTTTTAGGACTTCTAGGACCACAAACTTCTAGGACTTTTCACTGACTTAAGCCAGAGGTGTAATTCACTCTGTGACCCTACAGTTTCACCAGCTGTGGCTTCCTCAGATGGCCACTTTTCTTTTTGTTTCTAATAGCTCGAGTAACAAAGGGACCTTCCCATTGTCCCTGCTTCCAGCTTCTTTCCTGTGTTGTTGAGGTGGGGAGGAAGAGACAAGGGAAAGGTGGGAGAGTCATTCAAAGGAAAACCCTGTTTTG... | GTGAGCCACCACGCCCAGCCTGAAATCAATTTCTTATCCTTGCTCAAAACAAAGTCCCATAAACTTTTAGGACTTCTAGGACCACAAACTTCTAGGACTTTTCACTGACTTAAGCCAGAGGTGTAATTCACTCTGTGACCCTACAGTTTCACCAGCTGTGGCTTCCTCAGATGGCCACTTTTCTTTTTGTTTCTAATAGCTCGAGTAACAAAGGGACCTTCCCATTGTCCCTGCTTCCAGCTTCTTTCCTGTGTTGTTGAGGTGGGGAGGAAGAGACAAGGGAAAGGTGGGAGAGTCATTCAAAGGAAAACCCTGTTTTG... | pathogenic | 11,732 |
Does the variant on chromosome 1 at location 94062625 affecting gene ABCA4 (ATP binding cassette subfamily A member 4) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa_19'] | ATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACAT... | ATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACAT... | pathogenic | 11,750 |
Is the genetic change at chromosome 1, position 94062653, within gene ABCA4 (ATP binding cassette subfamily A member 4) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy'] | ACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATT... | ACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATT... | pathogenic | 11,753 |
Does the variant impacting ABCA4 (ATP binding cassette subfamily A member 4) on chromosome 1, position 94062748, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cone-rod_dystrophy_3'] | GAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATA... | GAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGTGCTGGCTTTCTGGTTAGCCCGGGTGAATGCTCTGCAAGTAAAATGTGTCAATA... | pathogenic | 11,768 |
Chromosome 1, position 94063121, gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Severe_early-childhood-onset_retinal_dystrophy'] | ACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACA... | ACTGCAGACTTGATGATGTGGATGGGATCTGAGTAGACAGCTACATGCTGACACTGAAACCCAAGAGGGTGGAGGACTGACAAGGGCAAGTGGTGGTGGTAAGAGCAATAACTTGGCTCCCCAAGGGGTCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACA... | pathogenic | 11,776 |
Clinically, how would you classify the variant at chromosome 1, position 94063249, gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Severe_early-childhood-onset_retinal_dystrophy'] | TCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCC... | TCAGCCGCCCCAGCACAGTCTGCCCTGGAAGGTCAAACCCTAGTTACACAAAAAGACACACAAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCC... | pathogenic | 11,782 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 94063310, gene ABCA4 (ATP binding cassette subfamily A member 4): what disease(s) if pathogenic? | pathogenic; ['Severe_early-childhood-onset_retinal_dystrophy'] | AAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTA... | AAAATAACTAATCAGTTTGGCACTTTCAGAAGGCGAATGATCCATCAATACATCAGTTATCCAACAGCCACTGGACCCACCACCAGCCATGCACAGGTGGAGGAGACCCTGGTATATCCACCTGGCAAACAGGATAGATTTGATACACTGGAACGACTTTCTTGTGAACTTTACACGTTTTCCCTGTGTTTCATGTGCTAGTAAAGCCCTTGGGATTATTATCTATTGAAAACTGTTGTGTGTTGTCACTGAAAGGGCCCAATTCCAGCATGGGAGGGTTTCACTCAAGGTGGCCCTAGGGAGAGAAGCATATGTTCGTA... | pathogenic | 11,786 |
Is the variant located on chromosome 1 at position 94077789, gene ABCA4 (ATP binding cassette subfamily A member 4), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Retinal_dystrophy', 'Stargardt_disease'] | GACCTGGCCCATGGGCAAGAGTGGTCCACCCTTAGATGGAGTCATTTACTGGGAGTATGAGGTTGAGAATTTGAAAATGACTGACATGTGCTCCCTGATTCTAAATAACTCCAGTTTAGCTGCCCAGCCAGAGATGGACATGTCAACAGCCAACTCTAATCTATCTGGGAGAGGGGTCTGAGAGAGGTGTGAAGAGAGGGCCAGGAAGCACAGAGGAGTGAATGACTAAACCTCCATCAAAGCAGAAGTGACATTTAAGAGCTGAGTGCTGAGTCTCAAAGAATGAATGAGTAGAAGCTCAGCAGATGAGGAAAGGGACA... | GACCTGGCCCATGGGCAAGAGTGGTCCACCCTTAGATGGAGTCATTTACTGGGAGTATGAGGTTGAGAATTTGAAAATGACTGACATGTGCTCCCTGATTCTAAATAACTCCAGTTTAGCTGCCCAGCCAGAGATGGACATGTCAACAGCCAACTCTAATCTATCTGGGAGAGGGGTCTGAGAGAGGTGTGAAGAGAGGGCCAGGAAGCACAGAGGAGTGAATGACTAAACCTCCATCAAAGCAGAAGTGACATTTAAGAGCTGAGTGCTGAGTCTCAAAGAATGAATGAGTAGAAGCTCAGCAGATGAGGAAAGGGACA... | pathogenic | 11,791 |
Variant at chromosome 1, position 94077801, gene ABCA4 (ATP binding cassette subfamily A member 4): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic | GGGCAAGAGTGGTCCACCCTTAGATGGAGTCATTTACTGGGAGTATGAGGTTGAGAATTTGAAAATGACTGACATGTGCTCCCTGATTCTAAATAACTCCAGTTTAGCTGCCCAGCCAGAGATGGACATGTCAACAGCCAACTCTAATCTATCTGGGAGAGGGGTCTGAGAGAGGTGTGAAGAGAGGGCCAGGAAGCACAGAGGAGTGAATGACTAAACCTCCATCAAAGCAGAAGTGACATTTAAGAGCTGAGTGCTGAGTCTCAAAGAATGAATGAGTAGAAGCTCAGCAGATGAGGAAAGGGACAGTCATTTCAGGC... | GGGCAAGAGTGGTCCACCCTTAGATGGAGTCATTTACTGGGAGTATGAGGTTGAGAATTTGAAAATGACTGACATGTGCTCCCTGATTCTAAATAACTCCAGTTTAGCTGCCCAGCCAGAGATGGACATGTCAACAGCCAACTCTAATCTATCTGGGAGAGGGGTCTGAGAGAGGTGTGAAGAGAGGGCCAGGAAGCACAGAGGAGTGAATGACTAAACCTCCATCAAAGCAGAAGTGACATTTAAGAGCTGAGTGCTGAGTCTCAAAGAATGAATGAGTAGAAGCTCAGCAGATGAGGAAAGGGACAGTCATTTCAGGC... | pathogenic | 11,792 |
Determine if the mutation at chromosome 1, position 94078579 in gene ABCA4 (ATP binding cassette subfamily A member 4) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TTTGCAAAGGGTAGAATCCCAAGAGGTCATGGAATGGGAATGCCTGTAGGCGTGAAAGGGCCAGGTAGCAGAGTTGAGCAAGGGCTGGGAAGGTGGGGTAGGACAGATTTGGAAGGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAA... | TTTGCAAAGGGTAGAATCCCAAGAGGTCATGGAATGGGAATGCCTGTAGGCGTGAAAGGGCCAGGTAGCAGAGTTGAGCAAGGGCTGGGAAGGTGGGGTAGGACAGATTTGGAAGGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAA... | benign | 11,797 |
Does the chromosome 1 mutation at position 94078584 within gene ABCA4 (ATP binding cassette subfamily A member 4) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | AAAGGGTAGAATCCCAAGAGGTCATGGAATGGGAATGCCTGTAGGCGTGAAAGGGCCAGGTAGCAGAGTTGAGCAAGGGCTGGGAAGGTGGGGTAGGACAGATTTGGAAGGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGC... | AAAGGGTAGAATCCCAAGAGGTCATGGAATGGGAATGCCTGTAGGCGTGAAAGGGCCAGGTAGCAGAGTTGAGCAAGGGCTGGGAAGGTGGGGTAGGACAGATTTGGAAGGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGC... | benign | 11,798 |
Is chromosome 1, position 94078601, gene ABCA4 (ATP binding cassette subfamily A member 4) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Severe_early-childhood-onset_retinal_dystrophy', 'Stargardt_disease'] | GAGGTCATGGAATGGGAATGCCTGTAGGCGTGAAAGGGCCAGGTAGCAGAGTTGAGCAAGGGCTGGGAAGGTGGGGTAGGACAGATTTGGAAGGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTT... | GAGGTCATGGAATGGGAATGCCTGTAGGCGTGAAAGGGCCAGGTAGCAGAGTTGAGCAAGGGCTGGGAAGGTGGGGTAGGACAGATTTGGAAGGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTT... | pathogenic | 11,799 |
Mutation at chromosome 1, position 94078643, within ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Retinal_dystrophy'] | GTAGCAGAGTTGAGCAAGGGCTGGGAAGGTGGGGTAGGACAGATTTGGAAGGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTTAGGAGGGAGAGGAGACAAAGCTTGGTAAGAGAAATCAGAAAG... | GTAGCAGAGTTGAGCAAGGGCTGGGAAGGTGGGGTAGGACAGATTTGGAAGGGACCTGTGTTATTTGGGGGTCGAGTCATTAAGATTTTAAGTGAGAGAGCAACGTAAGCAGGTGTGCGGAATGTAACTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTTAGGAGGGAGAGGAGACAAAGCTTGGTAAGAGAAATCAGAAAG... | pathogenic | 11,802 |
Mutation at chromosome 1, position 94078770, within ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | CTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTTAGGAGGGAGAGGAGACAAAGCTTGGTAAGAGAAATCAGAAAGGCAGGCTCTGAACTCAGGCACCCCCAGAGCTGGATCCTGTTCGCTCCTCTTAATGGTCATGCGTGGGATCTTATTTAACCTCTTTAAGCCCTGGCTTCTCATCTGCAAATTGGCAATGATAATGGTG... | CTCTGGTGCCAGTGTAGAGAAATGCCTGGGCCAACAGAGGCTGGACCCTGGATTCCAGGAAGGAAGCCCTTGGAATGGGCTGGCGCAGAGATGACAAGGCCTCTAGTCCTCAGAGAGCCTGGAATGCAAGAGGCAGAGTTGAGAGATATTTAGGAGGGAGAGGAGACAAAGCTTGGTAAGAGAAATCAGAAAGGCAGGCTCTGAACTCAGGCACCCCCAGAGCTGGATCCTGTTCGCTCCTCTTAATGGTCATGCGTGGGATCTTATTTAACCTCTTTAAGCCCTGGCTTCTCATCTGCAAATTGGCAATGATAATGGTG... | benign | 11,809 |
Determine if the mutation at chromosome 1, position 94080538 in gene ABCA4 (ATP binding cassette subfamily A member 4) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Retinal_dystrophy', 'Severe_early-childhood-onset_retinal_dystrophy'] | ATAGCGATTAACTCTTTCCTGGGAAAAGGAAACAAGTGGAACTTTCTTGCCCCCACCGCTTCCTCCTCCCCTCCCCTCCCCATCCTCCAACCCCCCTTACTCTGATCATGTTCATCTGTGTGCTGTTGTCAAAGAAGTACCAGATCTGGGGCCCTACTTCTTCCCAGGCTTTGACCAACTTCCTAACGTGTTCCAGTTCTTCAAAAGTTGAGTTGGCCTAAAACCAGACAGAGATCAAGACAGAGACACGAACAGAGAGAAAAGTGAGAGAGAACTTTTGGTTGTGTCTTTTCTGCCCCTATCACTTAGTGTTAGGGAAA... | ATAGCGATTAACTCTTTCCTGGGAAAAGGAAACAAGTGGAACTTTCTTGCCCCCACCGCTTCCTCCTCCCCTCCCCTCCCCATCCTCCAACCCCCCTTACTCTGATCATGTTCATCTGTGTGCTGTTGTCAAAGAAGTACCAGATCTGGGGCCCTACTTCTTCCCAGGCTTTGACCAACTTCCTAACGTGTTCCAGTTCTTCAAAAGTTGAGTTGGCCTAAAACCAGACAGAGATCAAGACAGAGACACGAACAGAGAGAAAAGTGAGAGAGAACTTTTGGTTGTGTCTTTTCTGCCCCTATCACTTAGTGTTAGGGAAA... | pathogenic | 11,818 |
Gene ABCA4 (ATP binding cassette subfamily A member 4) variant at chromosome 1, position 94080691—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Progressive_cone_dystrophy_(without_rod_involvement)', 'Retinal_dystrophy', 'Retinitis_pigmentosa_19', 'Severe_early-childhood-onset_retinal_dystrophy', 'Stargardt_disease'] | CTACTTCTTCCCAGGCTTTGACCAACTTCCTAACGTGTTCCAGTTCTTCAAAAGTTGAGTTGGCCTAAAACCAGACAGAGATCAAGACAGAGACACGAACAGAGAGAAAAGTGAGAGAGAACTTTTGGTTGTGTCTTTTCTGCCCCTATCACTTAGTGTTAGGGAAAGGCTTTTCAAGGAAGTGTTTTTATTTTCTCAGTCTATTGCTATTTCCCAGAACAATTCACCATCTCCCAACTTCCTGGGCTGACAGAATCTAATTTCTTAGTATCTCAGAAGTCCATGTAATATTGATGATATTATTTTCTCAGAACCTCCCT... | CTACTTCTTCCCAGGCTTTGACCAACTTCCTAACGTGTTCCAGTTCTTCAAAAGTTGAGTTGGCCTAAAACCAGACAGAGATCAAGACAGAGACACGAACAGAGAGAAAAGTGAGAGAGAACTTTTGGTTGTGTCTTTTCTGCCCCTATCACTTAGTGTTAGGGAAAGGCTTTTCAAGGAAGTGTTTTTATTTTCTCAGTCTATTGCTATTTCCCAGAACAATTCACCATCTCCCAACTTCCTGGGCTGACAGAATCTAATTTCTTAGTATCTCAGAAGTCCATGTAATATTGATGATATTATTTTCTCAGAACCTCCCT... | pathogenic | 11,827 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 94083352, gene ABCA4 (ATP binding cassette subfamily A member 4): what disease(s) if pathogenic? | pathogenic | TTTATTTGAATTCGTTGGGAATGTGTCCTTGGGCAAATGCAGAAAATATTTTACTGTTAAGCCAGTTCTTGGGTTCTGTTGTCCCACCAAGATGGGGATACTGGGGAGAAAAAGAGGGAAATAAAATGATTGGGGAATGATTCTGTTGTAGAAAAGCAAGATCAGAGCAAATTTCTTTGGCTAAATAGTCTAAAATTTAGTTTCTTATATTTGGAAAATAATCTTATTAGCTTAATTTTACCAATGAATTCTTCCATTTCCTTGAAATGTGTGGTTTGTGGTTTTCTCGTGTGTGTGTGCGTGTGTGTGTGCACGCCTGT... | TTTATTTGAATTCGTTGGGAATGTGTCCTTGGGCAAATGCAGAAAATATTTTACTGTTAAGCCAGTTCTTGGGTTCTGTTGTCCCACCAAGATGGGGATACTGGGGAGAAAAAGAGGGAAATAAAATGATTGGGGAATGATTCTGTTGTAGAAAAGCAAGATCAGAGCAAATTTCTTTGGCTAAATAGTCTAAAATTTAGTTTCTTATATTTGGAAAATAATCTTATTAGCTTAATTTTACCAATGAATTCTTCCATTTCCTTGAAATGTGTGGTTTGTGGTTTTCTCGTGTGTGTGTGCGTGTGTGTGTGCACGCCTGT... | pathogenic | 11,833 |
A genetic alteration at chromosome 1, position 94083375, in gene ABCA4 (ATP binding cassette subfamily A member 4)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_19', 'Stargardt_disease'] | TGTCCTTGGGCAAATGCAGAAAATATTTTACTGTTAAGCCAGTTCTTGGGTTCTGTTGTCCCACCAAGATGGGGATACTGGGGAGAAAAAGAGGGAAATAAAATGATTGGGGAATGATTCTGTTGTAGAAAAGCAAGATCAGAGCAAATTTCTTTGGCTAAATAGTCTAAAATTTAGTTTCTTATATTTGGAAAATAATCTTATTAGCTTAATTTTACCAATGAATTCTTCCATTTCCTTGAAATGTGTGGTTTGTGGTTTTCTCGTGTGTGTGTGCGTGTGTGTGTGCACGCCTGTGTGTGTCTGTGTGTGCGTTTTAA... | TGTCCTTGGGCAAATGCAGAAAATATTTTACTGTTAAGCCAGTTCTTGGGTTCTGTTGTCCCACCAAGATGGGGATACTGGGGAGAAAAAGAGGGAAATAAAATGATTGGGGAATGATTCTGTTGTAGAAAAGCAAGATCAGAGCAAATTTCTTTGGCTAAATAGTCTAAAATTTAGTTTCTTATATTTGGAAAATAATCTTATTAGCTTAATTTTACCAATGAATTCTTCCATTTCCTTGAAATGTGTGGTTTGTGGTTTTCTCGTGTGTGTGTGCGTGTGTGTGTGCACGCCTGTGTGTGTCTGTGTGTGCGTTTTAA... | pathogenic | 11,835 |
For chromosome 1, position 94098883, gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Age_related_macular_degeneration_2', 'Cone-rod_dystrophy_3', 'Retinal_dystrophy', 'Retinitis_pigmentosa_19', 'Severe_early-childhood-onset_retinal_dystrophy'] | GGTGACGAGAGGATTGCACGAACCTGGGTACCCAGGCCCTGCCTGCAAAGCCCAGGTGCACAGACATTGCTCATTCTGCCCATTCTACAAAGCATGCGGGCCCTGGACACCTGAGAGGGAGCCTCTGGTGGCTCTGCAAACACCAGCACTGGACTCCTGGCTGTGCTGGTATTCAGCTGCCTGGAATAAGGGACCTTTGTTGCCTCACTCTTCTGTCTGATTCTGAAAACAAGTCAAGGAGCGTGTCTAAAATCAAGTTCTTTTTGAAACTTTGGATAGAGACATTTGGACTACATTGCTTTTTATTTTTCCTACAGTGT... | GGTGACGAGAGGATTGCACGAACCTGGGTACCCAGGCCCTGCCTGCAAAGCCCAGGTGCACAGACATTGCTCATTCTGCCCATTCTACAAAGCATGCGGGCCCTGGACACCTGAGAGGGAGCCTCTGGTGGCTCTGCAAACACCAGCACTGGACTCCTGGCTGTGCTGGTATTCAGCTGCCTGGAATAAGGGACCTTTGTTGCCTCACTCTTCTGTCTGATTCTGAAAACAAGTCAAGGAGCGTGTCTAAAATCAAGTTCTTTTTGAAACTTTGGATAGAGACATTTGGACTACATTGCTTTTTATTTTTCCTACAGTGT... | pathogenic | 11,845 |
Classify the chromosome 1 variant at position 94098897 affecting gene ABCA4 (ATP binding cassette subfamily A member 4) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic | TGCACGAACCTGGGTACCCAGGCCCTGCCTGCAAAGCCCAGGTGCACAGACATTGCTCATTCTGCCCATTCTACAAAGCATGCGGGCCCTGGACACCTGAGAGGGAGCCTCTGGTGGCTCTGCAAACACCAGCACTGGACTCCTGGCTGTGCTGGTATTCAGCTGCCTGGAATAAGGGACCTTTGTTGCCTCACTCTTCTGTCTGATTCTGAAAACAAGTCAAGGAGCGTGTCTAAAATCAAGTTCTTTTTGAAACTTTGGATAGAGACATTTGGACTACATTGCTTTTTATTTTTCCTACAGTGTGGTGAGCCAAGAGA... | TGCACGAACCTGGGTACCCAGGCCCTGCCTGCAAAGCCCAGGTGCACAGACATTGCTCATTCTGCCCATTCTACAAAGCATGCGGGCCCTGGACACCTGAGAGGGAGCCTCTGGTGGCTCTGCAAACACCAGCACTGGACTCCTGGCTGTGCTGGTATTCAGCTGCCTGGAATAAGGGACCTTTGTTGCCTCACTCTTCTGTCTGATTCTGAAAACAAGTCAAGGAGCGTGTCTAAAATCAAGTTCTTTTTGAAACTTTGGATAGAGACATTTGGACTACATTGCTTTTTATTTTTCCTACAGTGTGGTGAGCCAAGAGA... | pathogenic | 11,846 |
The mutation in gene ABCA4 (ATP binding cassette subfamily A member 4) at chromosome 1, position 94098932—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['ABCA4-related_retinopathy'] | GCCCAGGTGCACAGACATTGCTCATTCTGCCCATTCTACAAAGCATGCGGGCCCTGGACACCTGAGAGGGAGCCTCTGGTGGCTCTGCAAACACCAGCACTGGACTCCTGGCTGTGCTGGTATTCAGCTGCCTGGAATAAGGGACCTTTGTTGCCTCACTCTTCTGTCTGATTCTGAAAACAAGTCAAGGAGCGTGTCTAAAATCAAGTTCTTTTTGAAACTTTGGATAGAGACATTTGGACTACATTGCTTTTTATTTTTCCTACAGTGTGGTGAGCCAAGAGACCTTTTCTGGGGTCCTGGGCTCTCACTGATGGTGG... | GCCCAGGTGCACAGACATTGCTCATTCTGCCCATTCTACAAAGCATGCGGGCCCTGGACACCTGAGAGGGAGCCTCTGGTGGCTCTGCAAACACCAGCACTGGACTCCTGGCTGTGCTGGTATTCAGCTGCCTGGAATAAGGGACCTTTGTTGCCTCACTCTTCTGTCTGATTCTGAAAACAAGTCAAGGAGCGTGTCTAAAATCAAGTTCTTTTTGAAACTTTGGATAGAGACATTTGGACTACATTGCTTTTTATTTTTCCTACAGTGTGGTGAGCCAAGAGACCTTTTCTGGGGTCCTGGGCTCTCACTGATGGTGG... | pathogenic | 11,850 |
Variant in ABCA4 (ATP binding cassette subfamily A member 4), chromosome 1, position 94103020—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Retinal_dystrophy'] | GGCAGGGAGGGCCGGGTTGGCTGGAACGTGCCTCTGCGAAGCGCAGATGGCTCAGCGTTTGCTAATCAGCAGAGCATCAGCTCATCAGAGCCAGCAACATGAAATAAAGGCACAACCTGGTGACCCCGGCCTCCATTCTCCAACATGAAAGGCCTTGGCACTGATGCCAGAAGCACAGTACTAGAGATCTAAATGTCACATTAGTAAGGAACTGGAAAGAAATTTCCCCGAAATTCCTGTCCTTATCTTCATCTCCCTTTTATTACCAACTGGAAGTCATCAAGGCATTGTCAGGACTTGAGTTTTACGAGCTGAAGAGA... | GGCAGGGAGGGCCGGGTTGGCTGGAACGTGCCTCTGCGAAGCGCAGATGGCTCAGCGTTTGCTAATCAGCAGAGCATCAGCTCATCAGAGCCAGCAACATGAAATAAAGGCACAACCTGGTGACCCCGGCCTCCATTCTCCAACATGAAAGGCCTTGGCACTGATGCCAGAAGCACAGTACTAGAGATCTAAATGTCACATTAGTAAGGAACTGGAAAGAAATTTCCCCGAAATTCCTGTCCTTATCTTCATCTCCCTTTTATTACCAACTGGAAGTCATCAAGGCATTGTCAGGACTTGAGTTTTACGAGCTGAAGAGA... | pathogenic | 11,854 |
Determine if the mutation at chromosome 1, position 94108590 in gene ABCA4 (ATP binding cassette subfamily A member 4) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Severe_early-childhood-onset_retinal_dystrophy'] | AAAATGGTAATTGTACTCATACCATATAAGGTTCCTCAAACTTGGGCTCACTAAAATAAACTTCTACCCAGGGCAACAAAGAATGGAGTGTTTGTAATGCAGTTTGTAGAAGTTACTACATAAAATCTATGGTTTACTAGTTTGAAACAATGAGAACGTAATTCAGCATCTTCATACACCAATCTGGTCATACGCCTGTCCTTTCTCACTTGGATGGGGAGAGAGGGCTTCAGAAGGTGGCCAGATGGGAGGAGGATCAGATTCTCCTCGGAGAAGTTTCCCCTGTTGACTCTCCTGTGCTCCTGAATCCCCTCCTTCCC... | AAAATGGTAATTGTACTCATACCATATAAGGTTCCTCAAACTTGGGCTCACTAAAATAAACTTCTACCCAGGGCAACAAAGAATGGAGTGTTTGTAATGCAGTTTGTAGAAGTTACTACATAAAATCTATGGTTTACTAGTTTGAAACAATGAGAACGTAATTCAGCATCTTCATACACCAATCTGGTCATACGCCTGTCCTTTCTCACTTGGATGGGGAGAGAGGGCTTCAGAAGGTGGCCAGATGGGAGGAGGATCAGATTCTCCTCGGAGAAGTTTCCCCTGTTGACTCTCCTGTGCTCCTGAATCCCCTCCTTCCC... | pathogenic | 11,862 |
Evaluate this variant at chromosome 1, position 94111443, gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Retinal_dystrophy', 'Severe_early-childhood-onset_retinal_dystrophy'] | CATGCTTCATCCACAAGGACCTCCCTGCACACACACATTGGCACGCATGCACATGCACGCCTCTGCCAAGGCTGATGGGACAGGGAGAATAAAGCTGGGTCAACCCGATTTGTTCCCAGGAATTTGGATGGTGTTCAGAGATGAGCTTCTGATTGCCCAGGCCGAGGTATTGTGAATTGCATGAACAATGGCAGCCCAGGCATTGAGGAGCAGGGGAGACTGGTCCATGGAGAGAGGTGAATGGAGTAGATACAGAGGCCAGGGCTGGCAGGCCCAGATGGAAGAGAGTTGAGGAAGCAGCTCCTGACAGCTCTCCAGGT... | CATGCTTCATCCACAAGGACCTCCCTGCACACACACATTGGCACGCATGCACATGCACGCCTCTGCCAAGGCTGATGGGACAGGGAGAATAAAGCTGGGTCAACCCGATTTGTTCCCAGGAATTTGGATGGTGTTCAGAGATGAGCTTCTGATTGCCCAGGCCGAGGTATTGTGAATTGCATGAACAATGGCAGCCCAGGCATTGAGGAGCAGGGGAGACTGGTCCATGGAGAGAGGTGAATGGAGTAGATACAGAGGCCAGGGCTGGCAGGCCCAGATGGAAGAGAGTTGAGGAAGCAGCTCCTGACAGCTCTCCAGGT... | pathogenic | 11,871 |
The mutation impacting ABCA4 (ATP binding cassette subfamily A member 4) on chromosome 1 at position 94111452: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Severe_early-childhood-onset_retinal_dystrophy'] | TCCACAAGGACCTCCCTGCACACACACATTGGCACGCATGCACATGCACGCCTCTGCCAAGGCTGATGGGACAGGGAGAATAAAGCTGGGTCAACCCGATTTGTTCCCAGGAATTTGGATGGTGTTCAGAGATGAGCTTCTGATTGCCCAGGCCGAGGTATTGTGAATTGCATGAACAATGGCAGCCCAGGCATTGAGGAGCAGGGGAGACTGGTCCATGGAGAGAGGTGAATGGAGTAGATACAGAGGCCAGGGCTGGCAGGCCCAGATGGAAGAGAGTTGAGGAAGCAGCTCCTGACAGCTCTCCAGGTCTTGGCCTG... | TCCACAAGGACCTCCCTGCACACACACATTGGCACGCATGCACATGCACGCCTCTGCCAAGGCTGATGGGACAGGGAGAATAAAGCTGGGTCAACCCGATTTGTTCCCAGGAATTTGGATGGTGTTCAGAGATGAGCTTCTGATTGCCCAGGCCGAGGTATTGTGAATTGCATGAACAATGGCAGCCCAGGCATTGAGGAGCAGGGGAGACTGGTCCATGGAGAGAGGTGAATGGAGTAGATACAGAGGCCAGGGCTGGCAGGCCCAGATGGAAGAGAGTTGAGGAAGCAGCTCCTGACAGCTCTCCAGGTCTTGGCCTG... | pathogenic | 11,872 |
Variant chromosome 1, position 94111489, gene ABCA4 (ATP binding cassette subfamily A member 4): benign or pathogenic? Disease(s)? | pathogenic; ['Cone-rod_dystrophy_3', 'Retinal_dystrophy', 'Severe_early-childhood-onset_retinal_dystrophy'] | ATGCACATGCACGCCTCTGCCAAGGCTGATGGGACAGGGAGAATAAAGCTGGGTCAACCCGATTTGTTCCCAGGAATTTGGATGGTGTTCAGAGATGAGCTTCTGATTGCCCAGGCCGAGGTATTGTGAATTGCATGAACAATGGCAGCCCAGGCATTGAGGAGCAGGGGAGACTGGTCCATGGAGAGAGGTGAATGGAGTAGATACAGAGGCCAGGGCTGGCAGGCCCAGATGGAAGAGAGTTGAGGAAGCAGCTCCTGACAGCTCTCCAGGTCTTGGCCTGCCTCTCCTGAGCCCCGCCTTGCTGCCCTTGGCTCTGT... | ATGCACATGCACGCCTCTGCCAAGGCTGATGGGACAGGGAGAATAAAGCTGGGTCAACCCGATTTGTTCCCAGGAATTTGGATGGTGTTCAGAGATGAGCTTCTGATTGCCCAGGCCGAGGTATTGTGAATTGCATGAACAATGGCAGCCCAGGCATTGAGGAGCAGGGGAGACTGGTCCATGGAGAGAGGTGAATGGAGTAGATACAGAGGCCAGGGCTGGCAGGCCCAGATGGAAGAGAGTTGAGGAAGCAGCTCCTGACAGCTCTCCAGGTCTTGGCCTGCCTCTCCTGAGCCCCGCCTTGCTGCCCTTGGCTCTGT... | pathogenic | 11,875 |
Variant on chromosome 1, at position 94113024, affecting ABCA4 (ATP binding cassette subfamily A member 4): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinal_dystrophy'] | AAACCTGACTTCATTTACCTTCCCAATGCTCCCTGACATTTTTCCTAGCCCTTAGATGTCCAAGAAAGCTTTTAAAGGAAGAGAGATCTGTCCAGGTTGATCAGGGTGAGGGAACTGAGTTTTTCTCCTACAATGATTCACTCCACCCAAGCAGGTCAATGACCAGAAGGCAGTGGACACATCTCTGCAGCGGGCTGCCATCAGACTCCAGGTCACATTCTGGGGATATAAGGACCAAGAAATTTTGTGCACGTGGCCTTAGCTTGGAGATTTCTCCCCAAGTGCCCTGACAGTTAACAGAATGTTCCAGAGAGGAAACC... | AAACCTGACTTCATTTACCTTCCCAATGCTCCCTGACATTTTTCCTAGCCCTTAGATGTCCAAGAAAGCTTTTAAAGGAAGAGAGATCTGTCCAGGTTGATCAGGGTGAGGGAACTGAGTTTTTCTCCTACAATGATTCACTCCACCCAAGCAGGTCAATGACCAGAAGGCAGTGGACACATCTCTGCAGCGGGCTGCCATCAGACTCCAGGTCACATTCTGGGGATATAAGGACCAAGAAATTTTGTGCACGTGGCCTTAGCTTGGAGATTTCTCCCCAAGTGCCCTGACAGTTAACAGAATGTTCCAGAGAGGAAACC... | pathogenic | 11,892 |
Is the genetic variant on chromosome 1, position 94113026, gene ABCA4 (ATP binding cassette subfamily A member 4), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Retinitis_pigmentosa'] | ACCTGACTTCATTTACCTTCCCAATGCTCCCTGACATTTTTCCTAGCCCTTAGATGTCCAAGAAAGCTTTTAAAGGAAGAGAGATCTGTCCAGGTTGATCAGGGTGAGGGAACTGAGTTTTTCTCCTACAATGATTCACTCCACCCAAGCAGGTCAATGACCAGAAGGCAGTGGACACATCTCTGCAGCGGGCTGCCATCAGACTCCAGGTCACATTCTGGGGATATAAGGACCAAGAAATTTTGTGCACGTGGCCTTAGCTTGGAGATTTCTCCCCAAGTGCCCTGACAGTTAACAGAATGTTCCAGAGAGGAAACCTG... | ACCTGACTTCATTTACCTTCCCAATGCTCCCTGACATTTTTCCTAGCCCTTAGATGTCCAAGAAAGCTTTTAAAGGAAGAGAGATCTGTCCAGGTTGATCAGGGTGAGGGAACTGAGTTTTTCTCCTACAATGATTCACTCCACCCAAGCAGGTCAATGACCAGAAGGCAGTGGACACATCTCTGCAGCGGGCTGCCATCAGACTCCAGGTCACATTCTGGGGATATAAGGACCAAGAAATTTTGTGCACGTGGCCTTAGCTTGGAGATTTCTCCCCAAGTGCCCTGACAGTTAACAGAATGTTCCAGAGAGGAAACCTG... | pathogenic | 11,893 |
Clinical classification of chromosome 1, position 97098508, gene DPYD: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Dihydropyrimidine_dehydrogenase_deficiency'] | AGAGAAAGCTGGGAGAATTCCTATTGAGAGGTGAAGCCAGCTGGACTTCCTGGGTCCAGTGGGACTTGGAGAACTTTTCTTACAAGAGGATTGTAAAATGCACCAATCAGCACTCTGTAACTAGGATTGTAAAATGCATCAATCAGTGCTCTGTAAAAACATACCAATCAGCACTCTGTAAAATGCACAAATCAGTGCTCTGTAAAACGCACGAATCAGCAGGGTCCTAAAAGTAGCCAATCACAGGGAGGATTGAAAAAAGGGCACTCTGATAGGACAAAAACAGAATATGGGAGGGGACAATAAGGGAATAAAAGCTG... | AGAGAAAGCTGGGAGAATTCCTATTGAGAGGTGAAGCCAGCTGGACTTCCTGGGTCCAGTGGGACTTGGAGAACTTTTCTTACAAGAGGATTGTAAAATGCACCAATCAGCACTCTGTAACTAGGATTGTAAAATGCATCAATCAGTGCTCTGTAAAAACATACCAATCAGCACTCTGTAAAATGCACAAATCAGTGCTCTGTAAAACGCACGAATCAGCAGGGTCCTAAAAGTAGCCAATCACAGGGAGGATTGAAAAAAGGGCACTCTGATAGGACAAAAACAGAATATGGGAGGGGACAATAAGGGAATAAAAGCTG... | pathogenic | 11,956 |
Does the variant on chromosome 1 at location 97193111 affecting gene DPYD have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Dihydropyrimidine_dehydrogenase_deficiency'] | CACACACATACACACGTACATACAAACACACACACACACAAAAGCAGCAGCAACATTAAGAAAGAATGATTAGTTTGCTGAGAATGATGCACATGTACCCTAGAACTTAAAGTATAATAAAAAATATAAACATAATAAAAAGAAAAATAAAAAAATTATAGGACCAAAAAAAAGAACGATTAGGAAATCACCTGTACCCTAGATCCAGAGTACTTTGATTCACTACTGGGGATATAAATCTAAAGGGATAATCACCTATTGTTTTAGTCATGTCAGCCTGCACAGGAGAATCCAGAAGCACAAATCTATTACCAGACCAT... | CACACACATACACACGTACATACAAACACACACACACACAAAAGCAGCAGCAACATTAAGAAAGAATGATTAGTTTGCTGAGAATGATGCACATGTACCCTAGAACTTAAAGTATAATAAAAAATATAAACATAATAAAAAGAAAAATAAAAAAATTATAGGACCAAAAAAAAGAACGATTAGGAAATCACCTGTACCCTAGATCCAGAGTACTTTGATTCACTACTGGGGATATAAATCTAAAGGGATAATCACCTATTGTTTTAGTCATGTCAGCCTGCACAGGAGAATCCAGAAGCACAAATCTATTACCAGACCAT... | pathogenic | 11,958 |
A genetic variant at chromosome 1, position 97373560, affecting gene DPYD (dihydropyrimidine dehydrogenase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Dihydropyrimidine_dehydrogenase_deficiency'] | GAATAGGAGGCAGAGAAGGGGTAAAAGGAACTAGAGGAAAAGGCAAATAAGCCCAAGTGTGTTTGTGCTCACTTCAGAAAGTCAGAGTCACAGAAAAGCATTTTTTAAAATGCACTAATATTCTGCCTTCCCTTTATTTAAAATATGGAACATTCATGTGTCCTCAGGCAGAGAAATCATTTAAAATATGTTGGAACAAAAATGATTAAATTAGCTTTATTCTTCAATCATATAATTTACAAGAGAATATCATTCAAAAGAAAATTTCTAAACTTGGCTGATATGAAGAATTGGTTTCAGTTGTAGAGATTATAACTAAT... | GAATAGGAGGCAGAGAAGGGGTAAAAGGAACTAGAGGAAAAGGCAAATAAGCCCAAGTGTGTTTGTGCTCACTTCAGAAAGTCAGAGTCACAGAAAAGCATTTTTTAAAATGCACTAATATTCTGCCTTCCCTTTATTTAAAATATGGAACATTCATGTGTCCTCAGGCAGAGAAATCATTTAAAATATGTTGGAACAAAAATGATTAAATTAGCTTTATTCTTCAATCATATAATTTACAAGAGAATATCATTCAAAAGAAAATTTCTAAACTTGGCTGATATGAAGAATTGGTTTCAGTTGTAGAGATTATAACTAAT... | pathogenic | 11,967 |
Is the chromosome 1, position 97373635 variant in DPYD (dihydropyrimidine dehydrogenase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Dihydropyrimidine_dehydrogenase_deficiency'] | AGAAAGTCAGAGTCACAGAAAAGCATTTTTTAAAATGCACTAATATTCTGCCTTCCCTTTATTTAAAATATGGAACATTCATGTGTCCTCAGGCAGAGAAATCATTTAAAATATGTTGGAACAAAAATGATTAAATTAGCTTTATTCTTCAATCATATAATTTACAAGAGAATATCATTCAAAAGAAAATTTCTAAACTTGGCTGATATGAAGAATTGGTTTCAGTTGTAGAGATTATAACTAATAAGTGAAATGGAAATGTTCCTAAATTTTTTTCAGCCAAGATATCATGGTTTTTGGAACATGTGTTTTCCAAGAGT... | AGAAAGTCAGAGTCACAGAAAAGCATTTTTTAAAATGCACTAATATTCTGCCTTCCCTTTATTTAAAATATGGAACATTCATGTGTCCTCAGGCAGAGAAATCATTTAAAATATGTTGGAACAAAAATGATTAAATTAGCTTTATTCTTCAATCATATAATTTACAAGAGAATATCATTCAAAAGAAAATTTCTAAACTTGGCTGATATGAAGAATTGGTTTCAGTTGTAGAGATTATAACTAATAAGTGAAATGGAAATGTTCCTAAATTTTTTTCAGCCAAGATATCATGGTTTTTGGAACATGTGTTTTCCAAGAGT... | pathogenic | 11,968 |
Is the genetic change at chromosome 1, position 97450199, within gene DPYD (dihydropyrimidine dehydrogenase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Dihydropyrimidine_dehydrogenase_deficiency'] | AGGCTGCAGCGAGCCATGATGGCGCCAATGTACTCTGGCCTGGGCGGGGGGACCCATCTCTAGTTAAAAAAAAATGTAATACTGAATATTTAAGGACAACATAGGCAAATGCACTGGATCAGAACAGAAGCATGGATGGTAAAAGCAAATTTCAAGTTCAAATTCTAGCTTCACCATATATTAGGTGTGTAACGATTGATATGGTATTTAATCGCTGTGTGCCTCAGTTTCCTCATCAGTTAAATAGAGAAAATAATACTACCTATCTTATAAAGTTGTTCAAAAAGATCAAATGAGCTTAAAATAAATAAAACTTTTGT... | AGGCTGCAGCGAGCCATGATGGCGCCAATGTACTCTGGCCTGGGCGGGGGGACCCATCTCTAGTTAAAAAAAAATGTAATACTGAATATTTAAGGACAACATAGGCAAATGCACTGGATCAGAACAGAAGCATGGATGGTAAAAGCAAATTTCAAGTTCAAATTCTAGCTTCACCATATATTAGGTGTGTAACGATTGATATGGTATTTAATCGCTGTGTGCCTCAGTTTCCTCATCAGTTAAATAGAGAAAATAATACTACCTATCTTATAAAGTTGTTCAAAAAGATCAAATGAGCTTAAAATAAATAAAACTTTTGT... | pathogenic | 11,974 |
A mutation at chromosome position 97549704 on chromosome 1 in gene DPYD (dihydropyrimidine dehydrogenase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Dihydropyrimidine_dehydrogenase_deficiency', 'Neurodevelopmental_delay'] | CTCTCTTTCTCTCTCGTTGTTTTGTTGTTGTTGTTGTTGTTTAAAGATGAGGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGTGATCATAGCTCACTATAGCCTCCAACTTCTGGGCTTAAGTAATCCTCCCACCTCAGTCTCCCAATTACCTCATTCATTTTGAGATTCCTACATTTCTGGGACACCACGGTTTGGCCCAACAACTCAAGCCCCACTACTCAAAGATGCCAAGGAGGAGGTGGAAGTAGGCAGGTGAATCAAACTTTTAAAAGATGATACTATCAGTGTCAAGTCCAGGCCCTACCTAGCAAAT... | CTCTCTTTCTCTCTCGTTGTTTTGTTGTTGTTGTTGTTGTTTAAAGATGAGGTCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGTGATCATAGCTCACTATAGCCTCCAACTTCTGGGCTTAAGTAATCCTCCCACCTCAGTCTCCCAATTACCTCATTCATTTTGAGATTCCTACATTTCTGGGACACCACGGTTTGGCCCAACAACTCAAGCCCCACTACTCAAAGATGCCAAGGAGGAGGTGGAAGTAGGCAGGTGAATCAAACTTTTAAAAGATGATACTATCAGTGTCAAGTCCAGGCCCTACCTAGCAAAT... | pathogenic | 11,984 |
The genetic variant at chromosome 1, position 97573782, affecting gene DPYD (dihydropyrimidine dehydrogenase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Dihydropyrimidine_dehydrogenase_deficiency'] | GCTTCCAATAAAATGCTTTTCATTTTATTTTACATATATGTGTGCACATGACAGTTTTCTGACTTTGAAACTATTAAGATTTTAAATCCTATTGAGTAAGATCTTCTTGATCAAATTCTAACAAACACTGCTTCTGTGACTCCTTTATTTAATGTTTTCCATCCAAAAGAACAGTACTGAAAACATTTAGATGGGAGTCCAGGAATGAATGCTATCTCACACTGCAGCTCTGCCAGCTCCCCTCTCACTTGGAGAATAACTTCTTATTAAAGTAAACATGGAAGGCTCCTGGTAAAGTTAGTAATTCTACTTAAGGATAA... | GCTTCCAATAAAATGCTTTTCATTTTATTTTACATATATGTGTGCACATGACAGTTTTCTGACTTTGAAACTATTAAGATTTTAAATCCTATTGAGTAAGATCTTCTTGATCAAATTCTAACAAACACTGCTTCTGTGACTCCTTTATTTAATGTTTTCCATCCAAAAGAACAGTACTGAAAACATTTAGATGGGAGTCCAGGAATGAATGCTATCTCACACTGCAGCTCTGCCAGCTCCCCTCTCACTTGGAGAATAACTTCTTATTAAAGTAAACATGGAAGGCTCCTGGTAAAGTTAGTAATTCTACTTAAGGATAA... | pathogenic | 11,987 |
Gene mutation in DPYD (dihydropyrimidine dehydrogenase) at chromosome 1, position 97573787—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Dihydropyrimidine_dehydrogenase_deficiency'] | CAATAAAATGCTTTTCATTTTATTTTACATATATGTGTGCACATGACAGTTTTCTGACTTTGAAACTATTAAGATTTTAAATCCTATTGAGTAAGATCTTCTTGATCAAATTCTAACAAACACTGCTTCTGTGACTCCTTTATTTAATGTTTTCCATCCAAAAGAACAGTACTGAAAACATTTAGATGGGAGTCCAGGAATGAATGCTATCTCACACTGCAGCTCTGCCAGCTCCCCTCTCACTTGGAGAATAACTTCTTATTAAAGTAAACATGGAAGGCTCCTGGTAAAGTTAGTAATTCTACTTAAGGATAATTTCT... | CAATAAAATGCTTTTCATTTTATTTTACATATATGTGTGCACATGACAGTTTTCTGACTTTGAAACTATTAAGATTTTAAATCCTATTGAGTAAGATCTTCTTGATCAAATTCTAACAAACACTGCTTCTGTGACTCCTTTATTTAATGTTTTCCATCCAAAAGAACAGTACTGAAAACATTTAGATGGGAGTCCAGGAATGAATGCTATCTCACACTGCAGCTCTGCCAGCTCCCCTCTCACTTGGAGAATAACTTCTTATTAAAGTAAACATGGAAGGCTCCTGGTAAAGTTAGTAATTCTACTTAAGGATAATTTCT... | pathogenic | 11,988 |
Is the genetic change at chromosome 1, position 97573920, within gene DPYD (dihydropyrimidine dehydrogenase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Dihydropyrimidine_dehydrogenase_deficiency'] | ACTCCTTTATTTAATGTTTTCCATCCAAAAGAACAGTACTGAAAACATTTAGATGGGAGTCCAGGAATGAATGCTATCTCACACTGCAGCTCTGCCAGCTCCCCTCTCACTTGGAGAATAACTTCTTATTAAAGTAAACATGGAAGGCTCCTGGTAAAGTTAGTAATTCTACTTAAGGATAATTTCTACAGGCAGTTTATTATTTCAAACCAGAAGAGGAAAAAAAAATAGCGAAGAAACATTTTTTTCCTTGACTTCTCTAAATTTATAAGAGGTGGCATATGTGAAGTACTAGAAGAAATATACACAGTAAATTCTGG... | ACTCCTTTATTTAATGTTTTCCATCCAAAAGAACAGTACTGAAAACATTTAGATGGGAGTCCAGGAATGAATGCTATCTCACACTGCAGCTCTGCCAGCTCCCCTCTCACTTGGAGAATAACTTCTTATTAAAGTAAACATGGAAGGCTCCTGGTAAAGTTAGTAATTCTACTTAAGGATAATTTCTACAGGCAGTTTATTATTTCAAACCAGAAGAGGAAAAAAAAATAGCGAAGAAACATTTTTTTCCTTGACTTCTCTAAATTTATAAGAGGTGGCATATGTGAAGTACTAGAAGAAATATACACAGTAAATTCTGG... | pathogenic | 11,990 |
Considering the genetic mutation at chromosome 1, position 97573942, impacting DPYD (dihydropyrimidine dehydrogenase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Dihydropyrimidine_dehydrogenase_deficiency'] | ATCCAAAAGAACAGTACTGAAAACATTTAGATGGGAGTCCAGGAATGAATGCTATCTCACACTGCAGCTCTGCCAGCTCCCCTCTCACTTGGAGAATAACTTCTTATTAAAGTAAACATGGAAGGCTCCTGGTAAAGTTAGTAATTCTACTTAAGGATAATTTCTACAGGCAGTTTATTATTTCAAACCAGAAGAGGAAAAAAAAATAGCGAAGAAACATTTTTTTCCTTGACTTCTCTAAATTTATAAGAGGTGGCATATGTGAAGTACTAGAAGAAATATACACAGTAAATTCTGGAATAAAATGCATAAATTCTGAA... | ATCCAAAAGAACAGTACTGAAAACATTTAGATGGGAGTCCAGGAATGAATGCTATCTCACACTGCAGCTCTGCCAGCTCCCCTCTCACTTGGAGAATAACTTCTTATTAAAGTAAACATGGAAGGCTCCTGGTAAAGTTAGTAATTCTACTTAAGGATAATTTCTACAGGCAGTTTATTATTTCAAACCAGAAGAGGAAAAAAAAATAGCGAAGAAACATTTTTTTCCTTGACTTCTCTAAATTTATAAGAGGTGGCATATGTGAAGTACTAGAAGAAATATACACAGTAAATTCTGGAATAAAATGCATAAATTCTGAA... | pathogenic | 11,991 |
Assess the variant on chromosome 1, position 97593235, impacting DPYD (dihydropyrimidine dehydrogenase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Dihydropyrimidine_dehydrogenase_deficiency'] | TCCAGGGCCACCCTGTTTAAAATGGCAAACCCTGCCTTCTCTTCCACCATTATCCTCATCTCTCACACACTCATTATACTCCTATATTAATTTTTCTCCACAGTTCTAATTACTTTTCAATATATTATTTATGTGACAGTTTATTTGTTTAATTATTGGGTATCTTCTGTCACTAGGTACAAATTCCATGAGGGCATGAAATTCTAACTGGTTTGCTGACTGTTGTATCTAAGTTGCCCAGAACAATACCTGGTACATAATAGATGCTCAGTAAATGTAGTTTTAATAAATGAATGAATGAATGAATAAATAAATTCATA... | TCCAGGGCCACCCTGTTTAAAATGGCAAACCCTGCCTTCTCTTCCACCATTATCCTCATCTCTCACACACTCATTATACTCCTATATTAATTTTTCTCCACAGTTCTAATTACTTTTCAATATATTATTTATGTGACAGTTTATTTGTTTAATTATTGGGTATCTTCTGTCACTAGGTACAAATTCCATGAGGGCATGAAATTCTAACTGGTTTGCTGACTGTTGTATCTAAGTTGCCCAGAACAATACCTGGTACATAATAGATGCTCAGTAAATGTAGTTTTAATAAATGAATGAATGAATGAATAAATAAATTCATA... | pathogenic | 11,994 |
A genetic alteration at chromosome 1, position 97740410, in gene DPYD (dihydropyrimidine dehydrogenase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Dihydropyrimidine_dehydrogenase_deficiency'] | TCAAAACTAGAGCTGTAATCCAGTTTGTAAGAAAATAAAGAATGGAAGTATTGGCCTAAACTCCACTGAATCACAGAAGCCTAACACAATACAAAACAAGTGACATCCTTTTCTCAAAGAGGCGCAAGGCTCATTGAGTCTGGCGATTCAATTACCCTCTCAACCTGGAAAGAACACCCCTCCTGCGTTGAGGTCCACTGGCAAAGCAATGTGGGACAGCCTACATTGTACACAGCTGGTAAATATCTAAAAAGCTGCAGGCTTTAAAGAACAACAGTCTTTGACCTTTTATGATTGCTACAGTGATCCTTCAACAAAAA... | TCAAAACTAGAGCTGTAATCCAGTTTGTAAGAAAATAAAGAATGGAAGTATTGGCCTAAACTCCACTGAATCACAGAAGCCTAACACAATACAAAACAAGTGACATCCTTTTCTCAAAGAGGCGCAAGGCTCATTGAGTCTGGCGATTCAATTACCCTCTCAACCTGGAAAGAACACCCCTCCTGCGTTGAGGTCCACTGGCAAAGCAATGTGGGACAGCCTACATTGTACACAGCTGGTAAATATCTAAAAAGCTGCAGGCTTTAAAGAACAACAGTCTTTGACCTTTTATGATTGCTACAGTGATCCTTCAACAAAAA... | pathogenic | 12,005 |
A genetic variant at chromosome 1, position 97883279, affecting gene DPYD (dihydropyrimidine dehydrogenase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Dihydropyrimidine_dehydrogenase_deficiency'] | TCCTAATCCAATATAGCCGATGTCCTTATTTGGACACACGCACACCCAAAGTGAAAAACTCAGGGAGAAGACACCATCTACAAGCCAAGGAGAGAGGTCTTGGAAGAAATCACCTTGATCTGGGACTCCTAACCTCCAGAACTGTGAGAAAATAAGTCTCTGTTGTTTAAGCCACCTAGTCTGTGGTATCTTCTTGTAGCATCCGTAGGTATAAATAGCATCCCTAGGTATAGCATCACAGGTCCAAATGAATATTGTCAAAGATATTGTCAAACTGCTTTTATAAATATTTGGGTCAATATATATTTGACAGAGAAAGT... | TCCTAATCCAATATAGCCGATGTCCTTATTTGGACACACGCACACCCAAAGTGAAAAACTCAGGGAGAAGACACCATCTACAAGCCAAGGAGAGAGGTCTTGGAAGAAATCACCTTGATCTGGGACTCCTAACCTCCAGAACTGTGAGAAAATAAGTCTCTGTTGTTTAAGCCACCTAGTCTGTGGTATCTTCTTGTAGCATCCGTAGGTATAAATAGCATCCCTAGGTATAGCATCACAGGTCCAAATGAATATTGTCAAAGATATTGTCAAACTGCTTTTATAAATATTTGGGTCAATATATATTTGACAGAGAAAGT... | pathogenic | 12,010 |
Chromosome 1, position 99851058, gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['AGL-related_disorder', 'Glycogen_storage_disease_IIIb', 'Glycogen_storage_disease_type_III'] | CTTATTATATAGGATATATTATATCCTGTATAATTTATTTAATTTATCTGTCTCCCACCAATAAAATGTAGGAGTTCCTTGAGGGCAGTGACTGTTTTATTGCTGCATTCCCAGCACCTTATGTGCCTGGCAAATAGTAGGGGCCAGAAAATGAGCTGTGGGTTCCCAAAGTCAGTTACGGACCATTTGCAACTAGCCATTCTCAGAAATCTACAGAAATAAACAAATACTTCAGTATGGGGTTTTTTTTTTTAACTTATATCCTCTTTGGACCTACAGTCATTCCACAATAAAGAATGCAAGAATCTTCTCCACACGCC... | CTTATTATATAGGATATATTATATCCTGTATAATTTATTTAATTTATCTGTCTCCCACCAATAAAATGTAGGAGTTCCTTGAGGGCAGTGACTGTTTTATTGCTGCATTCCCAGCACCTTATGTGCCTGGCAAATAGTAGGGGCCAGAAAATGAGCTGTGGGTTCCCAAAGTCAGTTACGGACCATTTGCAACTAGCCATTCTCAGAAATCTACAGAAATAAACAAATACTTCAGTATGGGGTTTTTTTTTTTAACTTATATCCTCTTTGGACCTACAGTCATTCCACAATAAAGAATGCAAGAATCTTCTCCACACGCC... | pathogenic | 12,022 |
Variant at chromosome 1, position 99851063, gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Glycogen_storage_disease_type_III'] | TATATAGGATATATTATATCCTGTATAATTTATTTAATTTATCTGTCTCCCACCAATAAAATGTAGGAGTTCCTTGAGGGCAGTGACTGTTTTATTGCTGCATTCCCAGCACCTTATGTGCCTGGCAAATAGTAGGGGCCAGAAAATGAGCTGTGGGTTCCCAAAGTCAGTTACGGACCATTTGCAACTAGCCATTCTCAGAAATCTACAGAAATAAACAAATACTTCAGTATGGGGTTTTTTTTTTTAACTTATATCCTCTTTGGACCTACAGTCATTCCACAATAAAGAATGCAAGAATCTTCTCCACACGCCACAAG... | TATATAGGATATATTATATCCTGTATAATTTATTTAATTTATCTGTCTCCCACCAATAAAATGTAGGAGTTCCTTGAGGGCAGTGACTGTTTTATTGCTGCATTCCCAGCACCTTATGTGCCTGGCAAATAGTAGGGGCCAGAAAATGAGCTGTGGGTTCCCAAAGTCAGTTACGGACCATTTGCAACTAGCCATTCTCAGAAATCTACAGAAATAAACAAATACTTCAGTATGGGGTTTTTTTTTTTAACTTATATCCTCTTTGGACCTACAGTCATTCCACAATAAAGAATGCAAGAATCTTCTCCACACGCCACAAG... | pathogenic | 12,023 |
Evaluate the clinical significance of the mutation at chromosome 1, position 99851077 in gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Glycogen_storage_disease_type_III'] | TATATCCTGTATAATTTATTTAATTTATCTGTCTCCCACCAATAAAATGTAGGAGTTCCTTGAGGGCAGTGACTGTTTTATTGCTGCATTCCCAGCACCTTATGTGCCTGGCAAATAGTAGGGGCCAGAAAATGAGCTGTGGGTTCCCAAAGTCAGTTACGGACCATTTGCAACTAGCCATTCTCAGAAATCTACAGAAATAAACAAATACTTCAGTATGGGGTTTTTTTTTTTAACTTATATCCTCTTTGGACCTACAGTCATTCCACAATAAAGAATGCAAGAATCTTCTCCACACGCCACAAGTCTTAGTTAACCAA... | TATATCCTGTATAATTTATTTAATTTATCTGTCTCCCACCAATAAAATGTAGGAGTTCCTTGAGGGCAGTGACTGTTTTATTGCTGCATTCCCAGCACCTTATGTGCCTGGCAAATAGTAGGGGCCAGAAAATGAGCTGTGGGTTCCCAAAGTCAGTTACGGACCATTTGCAACTAGCCATTCTCAGAAATCTACAGAAATAAACAAATACTTCAGTATGGGGTTTTTTTTTTTAACTTATATCCTCTTTGGACCTACAGTCATTCCACAATAAAGAATGCAAGAATCTTCTCCACACGCCACAAGTCTTAGTTAACCAA... | pathogenic | 12,025 |
Assess the variant on chromosome 1, position 99851103, impacting AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Glycogen_storage_disease_type_III'] | ATCTGTCTCCCACCAATAAAATGTAGGAGTTCCTTGAGGGCAGTGACTGTTTTATTGCTGCATTCCCAGCACCTTATGTGCCTGGCAAATAGTAGGGGCCAGAAAATGAGCTGTGGGTTCCCAAAGTCAGTTACGGACCATTTGCAACTAGCCATTCTCAGAAATCTACAGAAATAAACAAATACTTCAGTATGGGGTTTTTTTTTTTAACTTATATCCTCTTTGGACCTACAGTCATTCCACAATAAAGAATGCAAGAATCTTCTCCACACGCCACAAGTCTTAGTTAACCAAATCTTCTGTCCATTTTCTCATAACCA... | ATCTGTCTCCCACCAATAAAATGTAGGAGTTCCTTGAGGGCAGTGACTGTTTTATTGCTGCATTCCCAGCACCTTATGTGCCTGGCAAATAGTAGGGGCCAGAAAATGAGCTGTGGGTTCCCAAAGTCAGTTACGGACCATTTGCAACTAGCCATTCTCAGAAATCTACAGAAATAAACAAATACTTCAGTATGGGGTTTTTTTTTTTAACTTATATCCTCTTTGGACCTACAGTCATTCCACAATAAAGAATGCAAGAATCTTCTCCACACGCCACAAGTCTTAGTTAACCAAATCTTCTGTCCATTTTCTCATAACCA... | pathogenic | 12,027 |
Regarding the variant at chromosome 1 and position 99861482, affecting gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | ATGTACTCTACCTCCCTGCCTACTGCCATGTTTCAGCCATACTTTTTTCCAGAAGATATTTTAAAAGCTCTACATAAATGTGTACAATGTAACAAAATAGAATAAATTAAAAGTGGTTATTACATTTTTTTTTTAATGGAGTCTTGCTCTGTCACCCATGCTGGAGTGCAGTGGTGCGATCCTAGCTCACTGCAACCTCTGCCTCCTGGGTTGAAGCAATTCTGCCCCAGCCTCCTGAGTAGTTGGGATTACAGGTGCACACCACCACACCCAGCTATTTTTGCGTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGG... | ATGTACTCTACCTCCCTGCCTACTGCCATGTTTCAGCCATACTTTTTTCCAGAAGATATTTTAAAAGCTCTACATAAATGTGTACAATGTAACAAAATAGAATAAATTAAAAGTGGTTATTACATTTTTTTTTTAATGGAGTCTTGCTCTGTCACCCATGCTGGAGTGCAGTGGTGCGATCCTAGCTCACTGCAACCTCTGCCTCCTGGGTTGAAGCAATTCTGCCCCAGCCTCCTGAGTAGTTGGGATTACAGGTGCACACCACCACACCCAGCTATTTTTGCGTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGG... | benign | 12,034 |
Is the variant located on chromosome 1 at position 99861485, gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TACTCTACCTCCCTGCCTACTGCCATGTTTCAGCCATACTTTTTTCCAGAAGATATTTTAAAAGCTCTACATAAATGTGTACAATGTAACAAAATAGAATAAATTAAAAGTGGTTATTACATTTTTTTTTTAATGGAGTCTTGCTCTGTCACCCATGCTGGAGTGCAGTGGTGCGATCCTAGCTCACTGCAACCTCTGCCTCCTGGGTTGAAGCAATTCTGCCCCAGCCTCCTGAGTAGTTGGGATTACAGGTGCACACCACCACACCCAGCTATTTTTGCGTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTG... | TACTCTACCTCCCTGCCTACTGCCATGTTTCAGCCATACTTTTTTCCAGAAGATATTTTAAAAGCTCTACATAAATGTGTACAATGTAACAAAATAGAATAAATTAAAAGTGGTTATTACATTTTTTTTTTAATGGAGTCTTGCTCTGTCACCCATGCTGGAGTGCAGTGGTGCGATCCTAGCTCACTGCAACCTCTGCCTCCTGGGTTGAAGCAATTCTGCCCCAGCCTCCTGAGTAGTTGGGATTACAGGTGCACACCACCACACCCAGCTATTTTTGCGTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTG... | benign | 12,035 |
Variant at chromosome 1, position 99861632, gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Glycogen_storage_disease_type_III'] | GTCACCCATGCTGGAGTGCAGTGGTGCGATCCTAGCTCACTGCAACCTCTGCCTCCTGGGTTGAAGCAATTCTGCCCCAGCCTCCTGAGTAGTTGGGATTACAGGTGCACACCACCACACCCAGCTATTTTTGCGTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCTCTCGCCTCGGCCTCCCAGAGTGTTGAGATTACAGGCGTGAGCTACTGTGCCTGGCCAAATGTCTTTTGATAACATGATTTATAATGGCTTTACAATATGCCAGCTTGTAGATTTACCA... | GTCACCCATGCTGGAGTGCAGTGGTGCGATCCTAGCTCACTGCAACCTCTGCCTCCTGGGTTGAAGCAATTCTGCCCCAGCCTCCTGAGTAGTTGGGATTACAGGTGCACACCACCACACCCAGCTATTTTTGCGTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCTCTCGCCTCGGCCTCCCAGAGTGTTGAGATTACAGGCGTGAGCTACTGTGCCTGGCCAAATGTCTTTTGATAACATGATTTATAATGGCTTTACAATATGCCAGCTTGTAGATTTACCA... | pathogenic | 12,045 |
Considering the genetic mutation at chromosome 1, position 99861641, impacting AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease_type_III'] | GCTGGAGTGCAGTGGTGCGATCCTAGCTCACTGCAACCTCTGCCTCCTGGGTTGAAGCAATTCTGCCCCAGCCTCCTGAGTAGTTGGGATTACAGGTGCACACCACCACACCCAGCTATTTTTGCGTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCTCTCGCCTCGGCCTCCCAGAGTGTTGAGATTACAGGCGTGAGCTACTGTGCCTGGCCAAATGTCTTTTGATAACATGATTTATAATGGCTTTACAATATGCCAGCTTGTAGATTTACCATAATTTATT... | GCTGGAGTGCAGTGGTGCGATCCTAGCTCACTGCAACCTCTGCCTCCTGGGTTGAAGCAATTCTGCCCCAGCCTCCTGAGTAGTTGGGATTACAGGTGCACACCACCACACCCAGCTATTTTTGCGTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCTCTCGCCTCGGCCTCCCAGAGTGTTGAGATTACAGGCGTGAGCTACTGTGCCTGGCCAAATGTCTTTTGATAACATGATTTATAATGGCTTTACAATATGCCAGCTTGTAGATTTACCATAATTTATT... | pathogenic | 12,046 |
Determine whether the variant at chromosome 1, position 99861669, in gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Glycogen_storage_disease_type_III'] | CACTGCAACCTCTGCCTCCTGGGTTGAAGCAATTCTGCCCCAGCCTCCTGAGTAGTTGGGATTACAGGTGCACACCACCACACCCAGCTATTTTTGCGTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCTCTCGCCTCGGCCTCCCAGAGTGTTGAGATTACAGGCGTGAGCTACTGTGCCTGGCCAAATGTCTTTTGATAACATGATTTATAATGGCTTTACAATATGCCAGCTTGTAGATTTACCATAATTTATTTAATCACTGCCAATCATTAGATATTTAG... | CACTGCAACCTCTGCCTCCTGGGTTGAAGCAATTCTGCCCCAGCCTCCTGAGTAGTTGGGATTACAGGTGCACACCACCACACCCAGCTATTTTTGCGTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCTCTCGCCTCGGCCTCCCAGAGTGTTGAGATTACAGGCGTGAGCTACTGTGCCTGGCCAAATGTCTTTTGATAACATGATTTATAATGGCTTTACAATATGCCAGCTTGTAGATTTACCATAATTTATTTAATCACTGCCAATCATTAGATATTTAG... | pathogenic | 12,047 |
Chromosome 1, position 99861695, gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Glycogen_storage_disease_type_III'] | AAGCAATTCTGCCCCAGCCTCCTGAGTAGTTGGGATTACAGGTGCACACCACCACACCCAGCTATTTTTGCGTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCTCTCGCCTCGGCCTCCCAGAGTGTTGAGATTACAGGCGTGAGCTACTGTGCCTGGCCAAATGTCTTTTGATAACATGATTTATAATGGCTTTACAATATGCCAGCTTGTAGATTTACCATAATTTATTTAATCACTGCCAATCATTAGATATTTAGGTTGTTGTCAGTTTATTTCATTTCAA... | AAGCAATTCTGCCCCAGCCTCCTGAGTAGTTGGGATTACAGGTGCACACCACCACACCCAGCTATTTTTGCGTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCTCTCGCCTCGGCCTCCCAGAGTGTTGAGATTACAGGCGTGAGCTACTGTGCCTGGCCAAATGTCTTTTGATAACATGATTTATAATGGCTTTACAATATGCCAGCTTGTAGATTTACCATAATTTATTTAATCACTGCCAATCATTAGATATTTAGGTTGTTGTCAGTTTATTTCATTTCAA... | pathogenic | 12,050 |
Located at chromosome 1 position 99861711, the variant affecting gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Glycogen_storage_disease_type_III'] | GCCTCCTGAGTAGTTGGGATTACAGGTGCACACCACCACACCCAGCTATTTTTGCGTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCTCTCGCCTCGGCCTCCCAGAGTGTTGAGATTACAGGCGTGAGCTACTGTGCCTGGCCAAATGTCTTTTGATAACATGATTTATAATGGCTTTACAATATGCCAGCTTGTAGATTTACCATAATTTATTTAATCACTGCCAATCATTAGATATTTAGGTTGTTGTCAGTTTATTTCATTTCAATAAATGAGGCTGTGAT... | GCCTCCTGAGTAGTTGGGATTACAGGTGCACACCACCACACCCAGCTATTTTTGCGTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCTCTCGCCTCGGCCTCCCAGAGTGTTGAGATTACAGGCGTGAGCTACTGTGCCTGGCCAAATGTCTTTTGATAACATGATTTATAATGGCTTTACAATATGCCAGCTTGTAGATTTACCATAATTTATTTAATCACTGCCAATCATTAGATATTTAGGTTGTTGTCAGTTTATTTCATTTCAATAAATGAGGCTGTGAT... | pathogenic | 12,052 |
Assess the variant on chromosome 1, position 99862306, impacting AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Glycogen_storage_disease_type_III'] | ATAAATTATAAATAATATATATTAAATAGGTAAATATTAGTTTTTTTCCTCTCAAAGAAATTCCTTAGATATTAAAGATTTTACTCAGTGGAACTAAACTTTCCTGCCTCATCAGTTATTATTGCCCATTATTAATTGAAAGTTATATTCGTGTTTAAAATTTATATGTATTATATTTCTAATAGACTTGACCATAGTCAGTATTTTTGTATTCTAATAATTATAAAGAAGGTTTAAAGTCTGCTTTAAACCAACCAAAATGTTTCTTTCACAGTACAGTTTTAACTGTAATGTGCTTATTTGTTTTCGCTTATGGCAAA... | ATAAATTATAAATAATATATATTAAATAGGTAAATATTAGTTTTTTTCCTCTCAAAGAAATTCCTTAGATATTAAAGATTTTACTCAGTGGAACTAAACTTTCCTGCCTCATCAGTTATTATTGCCCATTATTAATTGAAAGTTATATTCGTGTTTAAAATTTATATGTATTATATTTCTAATAGACTTGACCATAGTCAGTATTTTTGTATTCTAATAATTATAAAGAAGGTTTAAAGTCTGCTTTAAACCAACCAAAATGTTTCTTTCACAGTACAGTTTTAACTGTAATGTGCTTATTTGTTTTCGCTTATGGCAAA... | pathogenic | 12,056 |
Evaluate the clinical significance of the mutation at chromosome 1, position 99862399 in gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Glycogen_storage_disease_type_III'] | CTAAACTTTCCTGCCTCATCAGTTATTATTGCCCATTATTAATTGAAAGTTATATTCGTGTTTAAAATTTATATGTATTATATTTCTAATAGACTTGACCATAGTCAGTATTTTTGTATTCTAATAATTATAAAGAAGGTTTAAAGTCTGCTTTAAACCAACCAAAATGTTTCTTTCACAGTACAGTTTTAACTGTAATGTGCTTATTTGTTTTCGCTTATGGCAAAATATTTGTAACACATTGCACAAGTCTAAGGTATGTTTTTTTAAAAATAACCTAACTTGGGCAAAAGTAGAAATGCATTGGCTCTCAGGATTAC... | CTAAACTTTCCTGCCTCATCAGTTATTATTGCCCATTATTAATTGAAAGTTATATTCGTGTTTAAAATTTATATGTATTATATTTCTAATAGACTTGACCATAGTCAGTATTTTTGTATTCTAATAATTATAAAGAAGGTTTAAAGTCTGCTTTAAACCAACCAAAATGTTTCTTTCACAGTACAGTTTTAACTGTAATGTGCTTATTTGTTTTCGCTTATGGCAAAATATTTGTAACACATTGCACAAGTCTAAGGTATGTTTTTTTAAAAATAACCTAACTTGGGCAAAAGTAGAAATGCATTGGCTCTCAGGATTAC... | pathogenic | 12,058 |
Is the genetic change at chromosome 1, position 99864395, within gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease_type_III'] | TCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGTAATGTCAGCTTGCTTTCTTTTTCTTATTTAAAAAAATAAATGTAATTATCCTCTGTGATATAGATTTCAAAAGTTTTGTGTATTAGTCCATTCTCTCATTGCAGTAAAGAACTACCTGAGACTGGGTAATTTATAAAGAAAAGAGGTTTGACTCACAGTTCCGCAGGCTATACAGGAAGCATGGCTGGGGAGGCCTCAAGAAACTTACAGTCATGGCAGAAGGCAAAGGGGAAGCAGGCAT... | TCTTCAGACATTTTTAGCTAAGTGTTTGGGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGTAATGTCAGCTTGCTTTCTTTTTCTTATTTAAAAAAATAAATGTAATTATCCTCTGTGATATAGATTTCAAAAGTTTTGTGTATTAGTCCATTCTCTCATTGCAGTAAAGAACTACCTGAGACTGGGTAATTTATAAAGAAAAGAGGTTTGACTCACAGTTCCGCAGGCTATACAGGAAGCATGGCTGGGGAGGCCTCAAGAAACTTACAGTCATGGCAGAAGGCAAAGGGGAAGCAGGCAT... | pathogenic | 12,064 |
Variant on chromosome 1, at position 99864423, affecting AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disease_type_III'] | GGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGTAATGTCAGCTTGCTTTCTTTTTCTTATTTAAAAAAATAAATGTAATTATCCTCTGTGATATAGATTTCAAAAGTTTTGTGTATTAGTCCATTCTCTCATTGCAGTAAAGAACTACCTGAGACTGGGTAATTTATAAAGAAAAGAGGTTTGACTCACAGTTCCGCAGGCTATACAGGAAGCATGGCTGGGGAGGCCTCAAGAAACTTACAGTCATGGCAGAAGGCAAAGGGGAAGCAGGCATGTCTTACATGGCCAGAGAAGGAGGAAGA... | GGACCTTTTGATGAATGGGAAAGCAGACTTAGGGTTGCAAAAGAATCAGGTAATGTCAGCTTGCTTTCTTTTTCTTATTTAAAAAAATAAATGTAATTATCCTCTGTGATATAGATTTCAAAAGTTTTGTGTATTAGTCCATTCTCTCATTGCAGTAAAGAACTACCTGAGACTGGGTAATTTATAAAGAAAAGAGGTTTGACTCACAGTTCCGCAGGCTATACAGGAAGCATGGCTGGGGAGGCCTCAAGAAACTTACAGTCATGGCAGAAGGCAAAGGGGAAGCAGGCATGTCTTACATGGCCAGAGAAGGAGGAAGA... | pathogenic | 12,065 |
Is the genetic mutation found on chromosome 1 at position 99864457, within the gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disease_type_III'] | TTGCAAAAGAATCAGGTAATGTCAGCTTGCTTTCTTTTTCTTATTTAAAAAAATAAATGTAATTATCCTCTGTGATATAGATTTCAAAAGTTTTGTGTATTAGTCCATTCTCTCATTGCAGTAAAGAACTACCTGAGACTGGGTAATTTATAAAGAAAAGAGGTTTGACTCACAGTTCCGCAGGCTATACAGGAAGCATGGCTGGGGAGGCCTCAAGAAACTTACAGTCATGGCAGAAGGCAAAGGGGAAGCAGGCATGTCTTACATGGCCAGAGAAGGAGGAAGAGAACAAAGTGGGAGGTGCTACGTGCTTTTAAACA... | TTGCAAAAGAATCAGGTAATGTCAGCTTGCTTTCTTTTTCTTATTTAAAAAAATAAATGTAATTATCCTCTGTGATATAGATTTCAAAAGTTTTGTGTATTAGTCCATTCTCTCATTGCAGTAAAGAACTACCTGAGACTGGGTAATTTATAAAGAAAAGAGGTTTGACTCACAGTTCCGCAGGCTATACAGGAAGCATGGCTGGGGAGGCCTCAAGAAACTTACAGTCATGGCAGAAGGCAAAGGGGAAGCAGGCATGTCTTACATGGCCAGAGAAGGAGGAAGAGAACAAAGTGGGAGGTGCTACGTGCTTTTAAACA... | pathogenic | 12,067 |
A mutation at chromosome position 99870404 on chromosome 1 in gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Glycogen_storage_disease_type_III'] | AATCCCAGCACTTTGGGAGGCCGTGGCGGATGGGTCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGGCATCATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTACAGTGAGCCGAGACTGTGCCACTGTACTCCAGCCTGGGTGACAAAGCAAGACTCTGTCTCAAAAAAAGGGAAAAATTTAAATTAGCTGTGTGTGTTGGCATACACTTGTCGTCCTGACTACTTG... | AATCCCAGCACTTTGGGAGGCCGTGGCGGATGGGTCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGGCATCATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTACAGTGAGCCGAGACTGTGCCACTGTACTCCAGCCTGGGTGACAAAGCAAGACTCTGTCTCAAAAAAAGGGAAAAATTTAAATTAGCTGTGTGTGTTGGCATACACTTGTCGTCCTGACTACTTG... | pathogenic | 12,075 |
Regarding the variant at chromosome 1 and position 99870406, affecting gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Glycogen_storage_disease_type_III'] | TCCCAGCACTTTGGGAGGCCGTGGCGGATGGGTCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGGCATCATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTACAGTGAGCCGAGACTGTGCCACTGTACTCCAGCCTGGGTGACAAAGCAAGACTCTGTCTCAAAAAAAGGGAAAAATTTAAATTAGCTGTGTGTGTTGGCATACACTTGTCGTCCTGACTACTTGGG... | TCCCAGCACTTTGGGAGGCCGTGGCGGATGGGTCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGGCATCATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTACAGTGAGCCGAGACTGTGCCACTGTACTCCAGCCTGGGTGACAAAGCAAGACTCTGTCTCAAAAAAAGGGAAAAATTTAAATTAGCTGTGTGTGTTGGCATACACTTGTCGTCCTGACTACTTGGG... | pathogenic | 12,076 |
Determine if the mutation at chromosome 1, position 99870484 in gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Glycogen_storage_disease_type_III'] | ACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTACAGTGAGCCGAGACTGTGCCACTGTACTCCAGCCTGGGTGACAAAGCAAGACTCTGTCTCAAAAAAAGGGAAAAATTTAAATTAGCTGTGTGTGTTGGCATACACTTGTCGTCCTGACTACTTGGGAGGCTGAGGCAGGAGGATCACTTCAGCTCTAGAGTTCAAGGCTGCAGTGAGCTATGATTGCACCACTGCACTCCTGCA... | ACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTACAGTGAGCCGAGACTGTGCCACTGTACTCCAGCCTGGGTGACAAAGCAAGACTCTGTCTCAAAAAAAGGGAAAAATTTAAATTAGCTGTGTGTGTTGGCATACACTTGTCGTCCTGACTACTTGGGAGGCTGAGGCAGGAGGATCACTTCAGCTCTAGAGTTCAAGGCTGCAGTGAGCTATGATTGCACCACTGCACTCCTGCA... | pathogenic | 12,080 |
Classify the chromosome 1 variant at position 99870764 affecting gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Glycogen_storage_disease_type_III'] | AGGCTGCAGTGAGCTATGATTGCACCACTGCACTCCTGCACTCCTGGGTGATGGAGAAAGACCTTTCTCAAAAATAAATGGATGAATGAGAGCAGCATTGGTATTTACTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTCATTCTGTCACCCAGGCTGTAGTGCAGTGGCACAATCTCAGTTCATTGCAACCTCCACTTATTGGGGTCAAGCAGCCCTCCCACCTTAGCCTCCTGAGTAGCTGGGACTTTAGGCACATGCCACCATGCTCAGCTAATTTTTTAAAAATTTTGTAGAGATGAGGTCTCACTATGTTGCCCA... | AGGCTGCAGTGAGCTATGATTGCACCACTGCACTCCTGCACTCCTGGGTGATGGAGAAAGACCTTTCTCAAAAATAAATGGATGAATGAGAGCAGCATTGGTATTTACTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTCATTCTGTCACCCAGGCTGTAGTGCAGTGGCACAATCTCAGTTCATTGCAACCTCCACTTATTGGGGTCAAGCAGCCCTCCCACCTTAGCCTCCTGAGTAGCTGGGACTTTAGGCACATGCCACCATGCTCAGCTAATTTTTTAAAAATTTTGTAGAGATGAGGTCTCACTATGTTGCCCA... | pathogenic | 12,083 |
Variant in AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase), chromosome 1, position 99870770—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glycogen_storage_disease_type_III'] | CAGTGAGCTATGATTGCACCACTGCACTCCTGCACTCCTGGGTGATGGAGAAAGACCTTTCTCAAAAATAAATGGATGAATGAGAGCAGCATTGGTATTTACTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTCATTCTGTCACCCAGGCTGTAGTGCAGTGGCACAATCTCAGTTCATTGCAACCTCCACTTATTGGGGTCAAGCAGCCCTCCCACCTTAGCCTCCTGAGTAGCTGGGACTTTAGGCACATGCCACCATGCTCAGCTAATTTTTTAAAAATTTTGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGT... | CAGTGAGCTATGATTGCACCACTGCACTCCTGCACTCCTGGGTGATGGAGAAAGACCTTTCTCAAAAATAAATGGATGAATGAGAGCAGCATTGGTATTTACTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTCATTCTGTCACCCAGGCTGTAGTGCAGTGGCACAATCTCAGTTCATTGCAACCTCCACTTATTGGGGTCAAGCAGCCCTCCCACCTTAGCCTCCTGAGTAGCTGGGACTTTAGGCACATGCCACCATGCTCAGCTAATTTTTTAAAAATTTTGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGT... | pathogenic | 12,084 |
A genetic variant on chromosome 1, position 99870799, affects the gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Glycogen_storage_disease_type_III'] | CTGCACTCCTGGGTGATGGAGAAAGACCTTTCTCAAAAATAAATGGATGAATGAGAGCAGCATTGGTATTTACTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTCATTCTGTCACCCAGGCTGTAGTGCAGTGGCACAATCTCAGTTCATTGCAACCTCCACTTATTGGGGTCAAGCAGCCCTCCCACCTTAGCCTCCTGAGTAGCTGGGACTTTAGGCACATGCCACCATGCTCAGCTAATTTTTTAAAAATTTTGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGTCTCCAGCTCCTGGACTCAGGTGATACTCC... | CTGCACTCCTGGGTGATGGAGAAAGACCTTTCTCAAAAATAAATGGATGAATGAGAGCAGCATTGGTATTTACTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTCATTCTGTCACCCAGGCTGTAGTGCAGTGGCACAATCTCAGTTCATTGCAACCTCCACTTATTGGGGTCAAGCAGCCCTCCCACCTTAGCCTCCTGAGTAGCTGGGACTTTAGGCACATGCCACCATGCTCAGCTAATTTTTTAAAAATTTTGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGTCTCCAGCTCCTGGACTCAGGTGATACTCC... | pathogenic | 12,085 |
The mutation in gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) at chromosome 1, position 99870857—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glycogen_storage_disease_type_III'] | AGCATTGGTATTTACTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTCATTCTGTCACCCAGGCTGTAGTGCAGTGGCACAATCTCAGTTCATTGCAACCTCCACTTATTGGGGTCAAGCAGCCCTCCCACCTTAGCCTCCTGAGTAGCTGGGACTTTAGGCACATGCCACCATGCTCAGCTAATTTTTTAAAAATTTTGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGTCTCCAGCTCCTGGACTCAGGTGATACTCCCTCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGCACCTAGCCCCAA... | AGCATTGGTATTTACTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTCATTCTGTCACCCAGGCTGTAGTGCAGTGGCACAATCTCAGTTCATTGCAACCTCCACTTATTGGGGTCAAGCAGCCCTCCCACCTTAGCCTCCTGAGTAGCTGGGACTTTAGGCACATGCCACCATGCTCAGCTAATTTTTTAAAAATTTTGTAGAGATGAGGTCTCACTATGTTGCCCAGGCTGTCTCCAGCTCCTGGACTCAGGTGATACTCCCTCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGCACCTAGCCCCAA... | pathogenic | 12,088 |
Regarding the variant at chromosome 1 and position 99874727, affecting gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Glycogen_storage_disease_type_III', 'Inborn_genetic_diseases'] | CCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTTTTAAGTTACATTTCTTTGCTTATTAATGAAGTATATTTTTACACCTTGATTAGCTATTTATATTTCTTCCATTAATTGCCTGTTAATGTTTCTTCTCATTTTTCTATTGAGTTGTCTCTTTTTTTATATCGACATTATTGATTATTACACAGGCCTCAAATATATCCCCT... | CCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTTTTAAGTTACATTTCTTTGCTTATTAATGAAGTATATTTTTACACCTTGATTAGCTATTTATATTTCTTCCATTAATTGCCTGTTAATGTTTCTTCTCATTTTTCTATTGAGTTGTCTCTTTTTTTATATCGACATTATTGATTATTACACAGGCCTCAAATATATCCCCT... | pathogenic | 12,098 |
Chromosome 1, position 99874746, gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glycogen_storage_disease_type_III'] | TTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTTTTAAGTTACATTTCTTTGCTTATTAATGAAGTATATTTTTACACCTTGATTAGCTATTTATATTTCTTCCATTAATTGCCTGTTAATGTTTCTTCTCATTTTTCTATTGAGTTGTCTCTTTTTTTATATCGACATTATTGATTATTACACAGGCCTCAAATATATCCCCTAGTATGCTCTTGATCTTTT... | TTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTTTTAAGTTACATTTCTTTGCTTATTAATGAAGTATATTTTTACACCTTGATTAGCTATTTATATTTCTTCCATTAATTGCCTGTTAATGTTTCTTCTCATTTTTCTATTGAGTTGTCTCTTTTTTTATATCGACATTATTGATTATTACACAGGCCTCAAATATATCCCCTAGTATGCTCTTGATCTTTT... | pathogenic | 12,099 |
Regarding the variant at chromosome 1 and position 99874768, affecting gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Glycogen_storage_disease_type_III'] | GGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTTTTAAGTTACATTTCTTTGCTTATTAATGAAGTATATTTTTACACCTTGATTAGCTATTTATATTTCTTCCATTAATTGCCTGTTAATGTTTCTTCTCATTTTTCTATTGAGTTGTCTCTTTTTTTATATCGACATTATTGATTATTACACAGGCCTCAAATATATCCCCTAGTATGCTCTTGATCTTTTAACTCTTGTTTATGGTGACATT... | GGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTTTTAAGTTACATTTCTTTGCTTATTAATGAAGTATATTTTTACACCTTGATTAGCTATTTATATTTCTTCCATTAATTGCCTGTTAATGTTTCTTCTCATTTTTCTATTGAGTTGTCTCTTTTTTTATATCGACATTATTGATTATTACACAGGCCTCAAATATATCCCCTAGTATGCTCTTGATCTTTTAACTCTTGTTTATGGTGACATT... | pathogenic | 12,100 |
Chromosome 1, position 99875176, gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Glycogen_storage_disease_type_III'] | TCTTCTAATTTGTATTTTTACATTTGAATATTTAATATACCTGAAATTTATTTTTGTGTATTATATAAAGAAGATATTTAACTTGATTTGTATTTTTAAAATTATATTGAGTTGAAAATCCATCCTTTTATACTGATTTGAAGTACCACCATAATACTTCATAGTGTATGGTAATATACAAAATATACATCTGTTATCTGTGCTCTTCCACTGATCCGTCTCTTTTATTCTATCAATACTAAAGATTATTAGTTTATACTGATGGCATAGCTTTTTCTCTTTTTCAAACATTTCTTGGCAGTGTTCTTTTTTTTTTTTTT... | TCTTCTAATTTGTATTTTTACATTTGAATATTTAATATACCTGAAATTTATTTTTGTGTATTATATAAAGAAGATATTTAACTTGATTTGTATTTTTAAAATTATATTGAGTTGAAAATCCATCCTTTTATACTGATTTGAAGTACCACCATAATACTTCATAGTGTATGGTAATATACAAAATATACATCTGTTATCTGTGCTCTTCCACTGATCCGTCTCTTTTATTCTATCAATACTAAAGATTATTAGTTTATACTGATGGCATAGCTTTTTCTCTTTTTCAAACATTTCTTGGCAGTGTTCTTTTTTTTTTTTTT... | pathogenic | 12,104 |
The genetic variant at chromosome 1, position 99875237, affecting gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Glycogen_storage_disease_type_III'] | TATATAAAGAAGATATTTAACTTGATTTGTATTTTTAAAATTATATTGAGTTGAAAATCCATCCTTTTATACTGATTTGAAGTACCACCATAATACTTCATAGTGTATGGTAATATACAAAATATACATCTGTTATCTGTGCTCTTCCACTGATCCGTCTCTTTTATTCTATCAATACTAAAGATTATTAGTTTATACTGATGGCATAGCTTTTTCTCTTTTTCAAACATTTCTTGGCAGTGTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTCGCCTAGGCTAAAGTGCAGTGGTGTAATCTCCACTC... | TATATAAAGAAGATATTTAACTTGATTTGTATTTTTAAAATTATATTGAGTTGAAAATCCATCCTTTTATACTGATTTGAAGTACCACCATAATACTTCATAGTGTATGGTAATATACAAAATATACATCTGTTATCTGTGCTCTTCCACTGATCCGTCTCTTTTATTCTATCAATACTAAAGATTATTAGTTTATACTGATGGCATAGCTTTTTCTCTTTTTCAAACATTTCTTGGCAGTGTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTCGCCTAGGCTAAAGTGCAGTGGTGTAATCTCCACTC... | pathogenic | 12,109 |
Variant at chromosome 1, position 99876555, gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Glycogen_storage_disease_type_III'] | GCACGTGCACACACGTGCACACAGCAGGATGAGAAGGGGAGGAGGTAGGAGGATACCTGTGAAATAAATATTTGTTTTATTTTCAGTGAAAAAATTATAGGCCAAAAATTAGAAAATAGTGACAGTTATAATCTCTTTGTAGATATTTGCATTTAAGGTATCGTCTTTTCTTTCTTTTAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAACACCTTACGATTATTCAAGATCCTGAATACAGACGGTTTGGCTGTACTGTAGATATGAACATTGCACTAACGACTTTCATACCACATGAGTATGTAATGTGTTTT... | GCACGTGCACACACGTGCACACAGCAGGATGAGAAGGGGAGGAGGTAGGAGGATACCTGTGAAATAAATATTTGTTTTATTTTCAGTGAAAAAATTATAGGCCAAAAATTAGAAAATAGTGACAGTTATAATCTCTTTGTAGATATTTGCATTTAAGGTATCGTCTTTTCTTTCTTTTAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAACACCTTACGATTATTCAAGATCCTGAATACAGACGGTTTGGCTGTACTGTAGATATGAACATTGCACTAACGACTTTCATACCACATGAGTATGTAATGTGTTTT... | pathogenic | 12,118 |
Variant in AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase), chromosome 1, position 99876562—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glycogen_storage_disease_type_III'] | CACACACGTGCACACAGCAGGATGAGAAGGGGAGGAGGTAGGAGGATACCTGTGAAATAAATATTTGTTTTATTTTCAGTGAAAAAATTATAGGCCAAAAATTAGAAAATAGTGACAGTTATAATCTCTTTGTAGATATTTGCATTTAAGGTATCGTCTTTTCTTTCTTTTAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAACACCTTACGATTATTCAAGATCCTGAATACAGACGGTTTGGCTGTACTGTAGATATGAACATTGCACTAACGACTTTCATACCACATGAGTATGTAATGTGTTTTTTTCTGT... | CACACACGTGCACACAGCAGGATGAGAAGGGGAGGAGGTAGGAGGATACCTGTGAAATAAATATTTGTTTTATTTTCAGTGAAAAAATTATAGGCCAAAAATTAGAAAATAGTGACAGTTATAATCTCTTTGTAGATATTTGCATTTAAGGTATCGTCTTTTCTTTCTTTTAGAAAATAGGCGAGTAACCAAGTCTGATCCAAACCAACACCTTACGATTATTCAAGATCCTGAATACAGACGGTTTGGCTGTACTGTAGATATGAACATTGCACTAACGACTTTCATACCACATGAGTATGTAATGTGTTTTTTTCTGT... | pathogenic | 12,119 |
Variant at chromosome position 99877713, chromosome 1, gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Glycogen_storage_disease_type_III'] | TTCATAGTTATTATTTAATGTTTCTGGAGGACTGCATACTTAGTAATAAATTCAATATTAATCAAATTAAGCAAGCATCTGGCTCCTTACTTTGTAAGTGACATAAAGCATAGGTTGGGCAACTAGAGTGCAGTAAAAGCCTTTGCATATCTTTACTTAGAGTCTTTTTTAAAAATATCTTTGCAAAGTAACATCAATGCCTCAATTATGTATTTATTTTTTTTCTTTGAGATGGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCATTGCAACCTCCGCCTCCAGGGTTCAAGCGATTCTC... | TTCATAGTTATTATTTAATGTTTCTGGAGGACTGCATACTTAGTAATAAATTCAATATTAATCAAATTAAGCAAGCATCTGGCTCCTTACTTTGTAAGTGACATAAAGCATAGGTTGGGCAACTAGAGTGCAGTAAAAGCCTTTGCATATCTTTACTTAGAGTCTTTTTTAAAAATATCTTTGCAAAGTAACATCAATGCCTCAATTATGTATTTATTTTTTTTCTTTGAGATGGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCATTGCAACCTCCGCCTCCAGGGTTCAAGCGATTCTC... | pathogenic | 12,127 |
Regarding the variant found on chromosome 1 at position 99877744 in gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Glycogen_storage_disease_type_III'] | CTGCATACTTAGTAATAAATTCAATATTAATCAAATTAAGCAAGCATCTGGCTCCTTACTTTGTAAGTGACATAAAGCATAGGTTGGGCAACTAGAGTGCAGTAAAAGCCTTTGCATATCTTTACTTAGAGTCTTTTTTAAAAATATCTTTGCAAAGTAACATCAATGCCTCAATTATGTATTTATTTTTTTTCTTTGAGATGGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCATTGCAACCTCCGCCTCCAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCCAGGACTAC... | CTGCATACTTAGTAATAAATTCAATATTAATCAAATTAAGCAAGCATCTGGCTCCTTACTTTGTAAGTGACATAAAGCATAGGTTGGGCAACTAGAGTGCAGTAAAAGCCTTTGCATATCTTTACTTAGAGTCTTTTTTAAAAATATCTTTGCAAAGTAACATCAATGCCTCAATTATGTATTTATTTTTTTTCTTTGAGATGGAGTCTTGTTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCATTGCAACCTCCGCCTCCAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCCAGGACTAC... | pathogenic | 12,128 |
Evaluate the clinical significance of the mutation at chromosome 1, position 99879999 in gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Glycogen_storage_disease_type_III'] | GGTAGTATTTATCACTATTGCATAATTAGCATAATTCTAACAATCTTTTGCAGTTGTTATGGAATACTGGGCTATAAAATATTTAACTAGCTAATTTTAAAATTTTAATTTAGGGAAGTTGATCACGTTTCTGATAATATGGAGTGCAATCATATTGGCTACTGTGAATACATAAAATGTTAATTTTTGTTATTTTTAGGTTGCTTTCAATATATTTTAGAAGTGACTGTGAAGGTGAATAGCTTATTACACATTATAGTGGTGTGTGCCTATAGTCCCAGCTACTCGGGCGGCTGAGGCAGGAGAATCACTTGAACCCA... | GGTAGTATTTATCACTATTGCATAATTAGCATAATTCTAACAATCTTTTGCAGTTGTTATGGAATACTGGGCTATAAAATATTTAACTAGCTAATTTTAAAATTTTAATTTAGGGAAGTTGATCACGTTTCTGATAATATGGAGTGCAATCATATTGGCTACTGTGAATACATAAAATGTTAATTTTTGTTATTTTTAGGTTGCTTTCAATATATTTTAGAAGTGACTGTGAAGGTGAATAGCTTATTACACATTATAGTGGTGTGTGCCTATAGTCCCAGCTACTCGGGCGGCTGAGGCAGGAGAATCACTTGAACCCA... | pathogenic | 12,137 |
Evaluate this variant at chromosome 1, position 99881115, gene AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Glycogen_storage_disease_type_III'] | AAACAGCTAGATAGATAGCACCAGTGTTAAACGTAAATCACACAAGTGGAAATTGTAAGGTGTAAGAGTTTTTAAGAGTTATTTATCATCATCTGTAGGAGAAACTGGCTTCAGTCTGGTCAGACAAATCTAATCTTTCCAACAGCTAAGTAATTCACCAGCAGGGAATTTATGAATAATTATTTAGTCAACCACCTGGAAATTAAGTCTGATTAAAGTTTTAAAAATAAGCAAGCAGGCCCAGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTTAGGCTCAGGCAGGCAGATCAGCTGAGGTTGGGAGTTTGCAA... | AAACAGCTAGATAGATAGCACCAGTGTTAAACGTAAATCACACAAGTGGAAATTGTAAGGTGTAAGAGTTTTTAAGAGTTATTTATCATCATCTGTAGGAGAAACTGGCTTCAGTCTGGTCAGACAAATCTAATCTTTCCAACAGCTAAGTAATTCACCAGCAGGGAATTTATGAATAATTATTTAGTCAACCACCTGGAAATTAAGTCTGATTAAAGTTTTAAAAATAAGCAAGCAGGCCCAGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTTAGGCTCAGGCAGGCAGATCAGCTGAGGTTGGGAGTTTGCAA... | pathogenic | 12,146 |
Variant in AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase), chromosome 1, position 99881185—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TTTAAGAGTTATTTATCATCATCTGTAGGAGAAACTGGCTTCAGTCTGGTCAGACAAATCTAATCTTTCCAACAGCTAAGTAATTCACCAGCAGGGAATTTATGAATAATTATTTAGTCAACCACCTGGAAATTAAGTCTGATTAAAGTTTTAAAAATAAGCAAGCAGGCCCAGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTTAGGCTCAGGCAGGCAGATCAGCTGAGGTTGGGAGTTTGCAACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGGTGCGT... | TTTAAGAGTTATTTATCATCATCTGTAGGAGAAACTGGCTTCAGTCTGGTCAGACAAATCTAATCTTTCCAACAGCTAAGTAATTCACCAGCAGGGAATTTATGAATAATTATTTAGTCAACCACCTGGAAATTAAGTCTGATTAAAGTTTTAAAAATAAGCAAGCAGGCCCAGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTTAGGCTCAGGCAGGCAGATCAGCTGAGGTTGGGAGTTTGCAACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGGTGCGT... | benign | 12,148 |
Gene mutation in AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase) at chromosome 1, position 99881311—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Glycogen_storage_disease_type_III'] | TGGAAATTAAGTCTGATTAAAGTTTTAAAAATAAGCAAGCAGGCCCAGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTTAGGCTCAGGCAGGCAGATCAGCTGAGGTTGGGAGTTTGCAACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTGGAGAATTTCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTCACATCATGTCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTGGTC... | TGGAAATTAAGTCTGATTAAAGTTTTAAAAATAAGCAAGCAGGCCCAGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTTAGGCTCAGGCAGGCAGATCAGCTGAGGTTGGGAGTTTGCAACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTGGAGAATTTCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTCACATCATGTCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTGGTC... | pathogenic | 12,149 |
Variant on chromosome 1, at position 99881324, affecting AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disease_type_III', 'Inborn_genetic_diseases'] | TGATTAAAGTTTTAAAAATAAGCAAGCAGGCCCAGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTTAGGCTCAGGCAGGCAGATCAGCTGAGGTTGGGAGTTTGCAACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTGGAGAATTTCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTCACATCATGTCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTGGTCTCAATAAATAAAT... | TGATTAAAGTTTTAAAAATAAGCAAGCAGGCCCAGGCACGGTGGCTCACGCCTGTAATCCCAACACTTTTAGGCTCAGGCAGGCAGATCAGCTGAGGTTGGGAGTTTGCAACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGGTGCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTGGAGAATTTCTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTCACATCATGTCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTGGTCTCAATAAATAAAT... | pathogenic | 12,150 |
Subsets and Splits
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