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 |
|---|---|---|---|---|---|
Chromosome 15, position 45108142, gene DUOX2 (dual oxidase 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic | GCCCAGGCTGGGGAGGCAGGACGAGCCATACCAGGTCATACTCCTTAGGGATCTTGAGCAGCAGGGTGCGGCATCCTCGGTTGTTGGACAGGATGAGGTTGACCTGCTGCAGAGGCTGCAGCTGGACCACACGGAGCACAGTGAGATGCCTGTTCAGGACCTGCAGACACCTGTCTGACAGCAGCTGGATGATGATGGGACTGCTCCTCTCCTTGGGGCCTGGCCACTCCATCGCTGGGGAAGGGATAATTGGGCCGGGTAGTTCAGCAGATGTCCCCAGGTCCCCGCCTTCAGGTCAATTCCTCTGTGAGTCTGAGCAG... | GCCCAGGCTGGGGAGGCAGGACGAGCCATACCAGGTCATACTCCTTAGGGATCTTGAGCAGCAGGGTGCGGCATCCTCGGTTGTTGGACAGGATGAGGTTGACCTGCTGCAGAGGCTGCAGCTGGACCACACGGAGCACAGTGAGATGCCTGTTCAGGACCTGCAGACACCTGTCTGACAGCAGCTGGATGATGATGGGACTGCTCCTCTCCTTGGGGCCTGGCCACTCCATCGCTGGGGAAGGGATAATTGGGCCGGGTAGTTCAGCAGATGTCCCCAGGTCCCCGCCTTCAGGTCAATTCCTCTGTGAGTCTGAGCAG... | pathogenic | 231,643 |
Evaluate if the mutation on chromosome 15 at position 45108156 in DUOX2 (dual oxidase 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Thyroid_dyshormonogenesis_6'] | GGCAGGACGAGCCATACCAGGTCATACTCCTTAGGGATCTTGAGCAGCAGGGTGCGGCATCCTCGGTTGTTGGACAGGATGAGGTTGACCTGCTGCAGAGGCTGCAGCTGGACCACACGGAGCACAGTGAGATGCCTGTTCAGGACCTGCAGACACCTGTCTGACAGCAGCTGGATGATGATGGGACTGCTCCTCTCCTTGGGGCCTGGCCACTCCATCGCTGGGGAAGGGATAATTGGGCCGGGTAGTTCAGCAGATGTCCCCAGGTCCCCGCCTTCAGGTCAATTCCTCTGTGAGTCTGAGCAGGCGCCCTAAAGGTG... | GGCAGGACGAGCCATACCAGGTCATACTCCTTAGGGATCTTGAGCAGCAGGGTGCGGCATCCTCGGTTGTTGGACAGGATGAGGTTGACCTGCTGCAGAGGCTGCAGCTGGACCACACGGAGCACAGTGAGATGCCTGTTCAGGACCTGCAGACACCTGTCTGACAGCAGCTGGATGATGATGGGACTGCTCCTCTCCTTGGGGCCTGGCCACTCCATCGCTGGGGAAGGGATAATTGGGCCGGGTAGTTCAGCAGATGTCCCCAGGTCCCCGCCTTCAGGTCAATTCCTCTGTGAGTCTGAGCAGGCGCCCTAAAGGTG... | pathogenic | 231,644 |
Chromosome 15, position 45108159, gene DUOX2 (dual oxidase 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Thyroid_dyshormonogenesis_6'] | AGGACGAGCCATACCAGGTCATACTCCTTAGGGATCTTGAGCAGCAGGGTGCGGCATCCTCGGTTGTTGGACAGGATGAGGTTGACCTGCTGCAGAGGCTGCAGCTGGACCACACGGAGCACAGTGAGATGCCTGTTCAGGACCTGCAGACACCTGTCTGACAGCAGCTGGATGATGATGGGACTGCTCCTCTCCTTGGGGCCTGGCCACTCCATCGCTGGGGAAGGGATAATTGGGCCGGGTAGTTCAGCAGATGTCCCCAGGTCCCCGCCTTCAGGTCAATTCCTCTGTGAGTCTGAGCAGGCGCCCTAAAGGTGCCT... | AGGACGAGCCATACCAGGTCATACTCCTTAGGGATCTTGAGCAGCAGGGTGCGGCATCCTCGGTTGTTGGACAGGATGAGGTTGACCTGCTGCAGAGGCTGCAGCTGGACCACACGGAGCACAGTGAGATGCCTGTTCAGGACCTGCAGACACCTGTCTGACAGCAGCTGGATGATGATGGGACTGCTCCTCTCCTTGGGGCCTGGCCACTCCATCGCTGGGGAAGGGATAATTGGGCCGGGTAGTTCAGCAGATGTCCCCAGGTCCCCGCCTTCAGGTCAATTCCTCTGTGAGTCTGAGCAGGCGCCCTAAAGGTGCCT... | pathogenic | 231,646 |
Considering the genetic mutation at chromosome 15, position 45108790, impacting DUOX2 (dual oxidase 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases', 'Thyroid_dyshormonogenesis_6'] | GGTCTCAAACGGTACCAAATAGCCAGCCCCTCAGGCCAGCAGGAAATGAGGGGCAGGGCCAGTCTGCAGAGAGGCTGCCTAAGAGCTCACCTAAGGGAAGGCAGCAGAGAGCAATGATGGTGATGGCAAAACCAGGGCTGCTGCCTTCAAAGAAGTCAAGCACAGTCAGGGGTGCACACTGGGGCAGGCCGTCAGTTGTGAGCTGCTTAGGTTGAGGGCAGGGTGCACCTGAGGGAGAGGGCAGGGAAGACCTCAAAGTCTGAGGATCCCGCTATGTGGCCAGACCTCTTTCCCCTCTATCCTATAAAGGACCAAGGTAT... | GGTCTCAAACGGTACCAAATAGCCAGCCCCTCAGGCCAGCAGGAAATGAGGGGCAGGGCCAGTCTGCAGAGAGGCTGCCTAAGAGCTCACCTAAGGGAAGGCAGCAGAGAGCAATGATGGTGATGGCAAAACCAGGGCTGCTGCCTTCAAAGAAGTCAAGCACAGTCAGGGGTGCACACTGGGGCAGGCCGTCAGTTGTGAGCTGCTTAGGTTGAGGGCAGGGTGCACCTGAGGGAGAGGGCAGGGAAGACCTCAAAGTCTGAGGATCCCGCTATGTGGCCAGACCTCTTTCCCCTCTATCCTATAAAGGACCAAGGTAT... | pathogenic | 231,651 |
Clinically, how would you classify the variant at chromosome 15, position 45109917, gene DUOX2 (dual oxidase 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic | AAAAGAAAAAGAAAAAGAAAAAGAGAAGAGAAGAAAAAAAGAGAGACCCAGAGGGGTTGGGAAGGGTGTGGTGGGCTGACTGGGAATCAAGGGCTCATAGGGGCTGTCTAAGGCTAGACAGAGGGTCTGGGGCTCAGGCTGAGGAGCAGTCTGAGGTGGGGGCCCAGGCAAGCCTTACCCATTCCTGGTGTTCTCAAACCAGTAGCGGTCACCATCCCGCAGCCGTACAAACTGGTCGAGGACAATGGCACTGAACAGGGGTCCAGGGTCCCCATGGCTCTCCAGGAGCCCCCCAAGGAGCAGCTCTAGCTGGGATAGGT... | AAAAGAAAAAGAAAAAGAAAAAGAGAAGAGAAGAAAAAAAGAGAGACCCAGAGGGGTTGGGAAGGGTGTGGTGGGCTGACTGGGAATCAAGGGCTCATAGGGGCTGTCTAAGGCTAGACAGAGGGTCTGGGGCTCAGGCTGAGGAGCAGTCTGAGGTGGGGGCCCAGGCAAGCCTTACCCATTCCTGGTGTTCTCAAACCAGTAGCGGTCACCATCCCGCAGCCGTACAAACTGGTCGAGGACAATGGCACTGAACAGGGGTCCAGGGTCCCCATGGCTCTCCAGGAGCCCCCCAAGGAGCAGCTCTAGCTGGGATAGGT... | pathogenic | 231,659 |
Mutation found at chromosome 15 position 45110489, gene DUOX2 (dual oxidase 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Thyroid_dyshormonogenesis_6'] | ATCCTGTGACCATCACCAGCCTGCCTGACCTCAATGATTAGCAGCTTCAGGGGCACACAGCCCTTGGGGTGGGACCCTGCAGCAACAGGACAATGGCACCCAACCCAGAAGCCACCCTGCAGGAATGGTACAATGCAGTGGTTAGGAATATATTCTGGAATCAGATGGCTGAATTTAAGTCCCTCCTCTATGATTTACCAACTATGTCATCAGTAAAATGGGGAAAATGATTATACATACCTTACAATATTATTATGTAGATTAAATGAGTCAACATATGTAAAGGGTTTGGAACAGTATTGCCATAGGAAAGCTTTAGC... | ATCCTGTGACCATCACCAGCCTGCCTGACCTCAATGATTAGCAGCTTCAGGGGCACACAGCCCTTGGGGTGGGACCCTGCAGCAACAGGACAATGGCACCCAACCCAGAAGCCACCCTGCAGGAATGGTACAATGCAGTGGTTAGGAATATATTCTGGAATCAGATGGCTGAATTTAAGTCCCTCCTCTATGATTTACCAACTATGTCATCAGTAAAATGGGGAAAATGATTATACATACCTTACAATATTATTATGTAGATTAAATGAGTCAACATATGTAAAGGGTTTGGAACAGTATTGCCATAGGAAAGCTTTAGC... | pathogenic | 231,661 |
Gene DUOX2 (dual oxidase 2) variant at chromosome 15, position 45111477—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Thyroid_dyshormonogenesis_6'] | CATCGTGAGCGCCCTAGGTCTGCTATTGATGAACCCAGAGGGATCCTCAGGCTTCCTGGTCCCTTACCATCCACCCCTTCTGGCTCTGAGCTCACCCCTCAGATCTTCAACCACTATGTTGTCCTCCAACTCCGAAATCTGGGAGGCCATTCCCAGCAGCAGCTCATTCACCTCCTGGGTACTGTTCAGATTGGGGTTCTGGAAGTAAACAATGCACTCAAGATAGGCCTCTACCCAAAACTCGGTCTCTCTCAGCCTGGACCACTTTAGTACCCCAGGACAAAGGGCCCTTGGCCAGTCCCAGACTCTCTTGAACTGTT... | CATCGTGAGCGCCCTAGGTCTGCTATTGATGAACCCAGAGGGATCCTCAGGCTTCCTGGTCCCTTACCATCCACCCCTTCTGGCTCTGAGCTCACCCCTCAGATCTTCAACCACTATGTTGTCCTCCAACTCCGAAATCTGGGAGGCCATTCCCAGCAGCAGCTCATTCACCTCCTGGGTACTGTTCAGATTGGGGTTCTGGAAGTAAACAATGCACTCAAGATAGGCCTCTACCCAAAACTCGGTCTCTCTCAGCCTGGACCACTTTAGTACCCCAGGACAAAGGGCCCTTGGCCAGTCCCAGACTCTCTTGAACTGTT... | pathogenic | 231,669 |
Chromosome 15, position 45111496, gene DUOX2 (dual oxidase 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Congenital_hypothyroidism', 'DUOX2-related_disorder', 'Familial_thyroid_dyshormonogenesis', 'Genetic_transient_congenital_hypothyroidism', 'Inborn_genetic_diseases', 'Thyroid_dyshormonogenesis_6'] | CTGCTATTGATGAACCCAGAGGGATCCTCAGGCTTCCTGGTCCCTTACCATCCACCCCTTCTGGCTCTGAGCTCACCCCTCAGATCTTCAACCACTATGTTGTCCTCCAACTCCGAAATCTGGGAGGCCATTCCCAGCAGCAGCTCATTCACCTCCTGGGTACTGTTCAGATTGGGGTTCTGGAAGTAAACAATGCACTCAAGATAGGCCTCTACCCAAAACTCGGTCTCTCTCAGCCTGGACCACTTTAGTACCCCAGGACAAAGGGCCCTTGGCCAGTCCCAGACTCTCTTGAACTGTTGTCCCCGGATAATTTCCTC... | CTGCTATTGATGAACCCAGAGGGATCCTCAGGCTTCCTGGTCCCTTACCATCCACCCCTTCTGGCTCTGAGCTCACCCCTCAGATCTTCAACCACTATGTTGTCCTCCAACTCCGAAATCTGGGAGGCCATTCCCAGCAGCAGCTCATTCACCTCCTGGGTACTGTTCAGATTGGGGTTCTGGAAGTAAACAATGCACTCAAGATAGGCCTCTACCCAAAACTCGGTCTCTCTCAGCCTGGACCACTTTAGTACCCCAGGACAAAGGGCCCTTGGCCAGTCCCAGACTCTCTTGAACTGTTGTCCCCGGATAATTTCCTC... | pathogenic | 231,670 |
A mutation at chromosome position 45111803 on chromosome 15 in gene DUOX2 (dual oxidase 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Thyroid_dyshormonogenesis_6'] | GGATAATTTCCTCTACCCTTCATCTCCCATGAACCTGGGGCAGCAACACTCAAGAACTGGGATTGTTGCTTTTCCCAGCCTGTGTGAAGAGACTGACCTTGACCCATCTTCCCCTGACCCTGACCCCAGTCTGACCTCCCGAATCCAGTAGTTGTTGCAGACCCTGAGAGCTTGGGAGCTTTGAAAACCCTTGTTCAGGACCTTCCGGAAATGACAGCTGGCATTTCTGAAATTGAGAACAAAGGATGTGGTGAGGGAATTTGGAGAAGAATCAAAGATGGGGTTGAGTGGGCTGAGGGACTCAGTGGGGGTTCACTAGG... | GGATAATTTCCTCTACCCTTCATCTCCCATGAACCTGGGGCAGCAACACTCAAGAACTGGGATTGTTGCTTTTCCCAGCCTGTGTGAAGAGACTGACCTTGACCCATCTTCCCCTGACCCTGACCCCAGTCTGACCTCCCGAATCCAGTAGTTGTTGCAGACCCTGAGAGCTTGGGAGCTTTGAAAACCCTTGTTCAGGACCTTCCGGAAATGACAGCTGGCATTTCTGAAATTGAGAACAAAGGATGTGGTGAGGGAATTTGGAGAAGAATCAAAGATGGGGTTGAGTGGGCTGAGGGACTCAGTGGGGGTTCACTAGG... | pathogenic | 231,674 |
Mutation found at chromosome 15 position 45112562, gene DUOX2 (dual oxidase 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Thyroid_dyshormonogenesis_6'] | AGGACGGTATCCTGCAGGAAGGAGACGGTGATGATGGGGAGACAGGCTTCTTGCCTCCACATCCTCCCATCACAGGCACCTGTCTCCTTCCCCTCAGGATTCTCCGCACAGGTGTCCTCCTTCCCCGCTCCCTCACCTGTATACTCCGGGAGTGTTTTCTGCAGGAAGCTGGGCAGCCACTCATACACAGCGATGTTCTGAGGGGCAGAGAGGGGCGAGGGGAGGCACAAGTTGGATGGTGTGGGGCCTGGAAGGGTCTGAGCCCAAGGACGGCTTCCGTGTGGAGATGAGACCAGGAAGGGTCAATCATGGGAGAAGCA... | AGGACGGTATCCTGCAGGAAGGAGACGGTGATGATGGGGAGACAGGCTTCTTGCCTCCACATCCTCCCATCACAGGCACCTGTCTCCTTCCCCTCAGGATTCTCCGCACAGGTGTCCTCCTTCCCCGCTCCCTCACCTGTATACTCCGGGAGTGTTTTCTGCAGGAAGCTGGGCAGCCACTCATACACAGCGATGTTCTGAGGGGCAGAGAGGGGCGAGGGGAGGCACAAGTTGGATGGTGTGGGGCCTGGAAGGGTCTGAGCCCAAGGACGGCTTCCGTGTGGAGATGAGACCAGGAAGGGTCAATCATGGGAGAAGCA... | pathogenic | 231,679 |
Evaluate the clinical significance of the mutation at chromosome 15, position 45114695 in gene DUOXA2 (dual oxidase maturation factor 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Thyroglobulin_synthesis_defect'] | GCTGCGGCTCCTCCAGAGCCTGATACACACCGTCGGCGTAATTGGCTGGTACGCGGCGCTGCAACCGGCAGCCTGCGGAGGCAGGGAGCGGGGCTCTGTCTAAGCACTCCATCCCCTAGGATCCCCCAAACCTCTCCCTAAGCCTCCCTCAACCCCCATCCCACTTCACTGACAGAACCTTCCCTCAAGGGTCTCTTGGCCCCGGGAGCGCATAAGATTGCGCTGTGTAGGCAGCGGAGCTGCTGGGCGCGTGTTCCCCGCAGATTCCCCGCTCAGGGCCTTTCGCGCCCCGGCCCTTCGCGAGCCACGGCCCCAGCACG... | GCTGCGGCTCCTCCAGAGCCTGATACACACCGTCGGCGTAATTGGCTGGTACGCGGCGCTGCAACCGGCAGCCTGCGGAGGCAGGGAGCGGGGCTCTGTCTAAGCACTCCATCCCCTAGGATCCCCCAAACCTCTCCCTAAGCCTCCCTCAACCCCCATCCCACTTCACTGACAGAACCTTCCCTCAAGGGTCTCTTGGCCCCGGGAGCGCATAAGATTGCGCTGTGTAGGCAGCGGAGCTGCTGGGCGCGTGTTCCCCGCAGATTCCCCGCTCAGGGCCTTTCGCGCCCCGGCCCTTCGCGAGCCACGGCCCCAGCACG... | pathogenic | 231,688 |
Located at chromosome 15 position 45116587, the variant affecting gene DUOXA2 (dual oxidase maturation factor 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_thyroid_dyshormonogenesis', 'Thyroglobulin_synthesis_defect'] | CGTCCAGGCAGCCCCAGCTTGCTGGCTTGCCTGCCCGCCTGCGTGCAGCACTCGGCCGGCGTGCAGCATGACCCTGTGGAACGGCGTACTGCCTTTTTACCCCCAGCCCCGGCATGCCGCAGGCTTCAGCGTTCCACTGCTCATCGTTATTCTAGTGTTTTTGGCTCTAGCAGCAAGCTTCCTGCTCATCTTGCCGGGGATCCGTGGCCACTCGGTAAGGGTGTCCTCATAGTGCAGGTAGAGTGGGGGAAGGCTCATGGGCAGATTGTCTCCTGAGGGACCCAGGACAGGTAAGACTGTACAAGAGCCTCCATGAATAG... | CGTCCAGGCAGCCCCAGCTTGCTGGCTTGCCTGCCCGCCTGCGTGCAGCACTCGGCCGGCGTGCAGCATGACCCTGTGGAACGGCGTACTGCCTTTTTACCCCCAGCCCCGGCATGCCGCAGGCTTCAGCGTTCCACTGCTCATCGTTATTCTAGTGTTTTTGGCTCTAGCAGCAAGCTTCCTGCTCATCTTGCCGGGGATCCGTGGCCACTCGGTAAGGGTGTCCTCATAGTGCAGGTAGAGTGGGGGAAGGCTCATGGGCAGATTGTCTCCTGAGGGACCCAGGACAGGTAAGACTGTACAAGAGCCTCCATGAATAG... | pathogenic | 231,694 |
Evaluate this variant at chromosome 15, position 45361374, gene GATM (glycine amidinotransferase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GATCATTTTGTCATGATAAGGCCTTGATCACGGATCAGGGATGTAGACCGCACTGTGGATTGTTTTGAGCATGACTATTTTCTGAGGGGGAAAGCTCCCTCCCACACACACAGAGCGGTGGTGGTGCTGGAGTTACAAGAAAGATGATAATTGATGTAGCAAATTCTGAAAAAAGAGAAAGATTAGGATCAAAGGACGGTTGTGTGGATTAGAGTTGGTGAGAAGTTTCACCTCTTTTTCTGTAGCAGCGAGAGAAGACCCTTTATACATGGTTGAGAAGCAAATGCATGCAATGAGATGAAGGCCTGATTTTTTTCTCT... | GATCATTTTGTCATGATAAGGCCTTGATCACGGATCAGGGATGTAGACCGCACTGTGGATTGTTTTGAGCATGACTATTTTCTGAGGGGGAAAGCTCCCTCCCACACACACAGAGCGGTGGTGGTGCTGGAGTTACAAGAAAGATGATAATTGATGTAGCAAATTCTGAAAAAAGAGAAAGATTAGGATCAAAGGACGGTTGTGTGGATTAGAGTTGGTGAGAAGTTTCACCTCTTTTTCTGTAGCAGCGAGAGAAGACCCTTTATACATGGTTGAGAAGCAAATGCATGCAATGAGATGAAGGCCTGATTTTTTTCTCT... | benign | 231,719 |
A mutation at chromosome position 45363947 on chromosome 15 in gene GATM (glycine amidinotransferase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Arginine:glycine_amidinotransferase_deficiency'] | TAACTTTAGGAGTAGAGAGTAATACCTAGCAGAAGTTATTTTCTTTATGTCAAAGAAAAGTAATAGAAGCAAACCAGGCTTACGACCCCTGTTAAGGAGATGATTGTTTAAAGCACTACAGTTCATGCACTTTTTAAAGCAGGAGAATGAACCTTGCCCCTAAGCTTCTTAGGTGTATCTGAGGCCAGCCACAAGCTCCATCAGGCCTGTTCAGTCCAAGTAGGACTGTAAGGTGCCTCGGCGCCGGACATCGCAGGTCCAGCAATGGAAGCCTCCTCCCAGGGAATTGGCATTACGAATGTTAACTTTAATGGTAGTGA... | TAACTTTAGGAGTAGAGAGTAATACCTAGCAGAAGTTATTTTCTTTATGTCAAAGAAAAGTAATAGAAGCAAACCAGGCTTACGACCCCTGTTAAGGAGATGATTGTTTAAAGCACTACAGTTCATGCACTTTTTAAAGCAGGAGAATGAACCTTGCCCCTAAGCTTCTTAGGTGTATCTGAGGCCAGCCACAAGCTCCATCAGGCCTGTTCAGTCCAAGTAGGACTGTAAGGTGCCTCGGCGCCGGACATCGCAGGTCCAGCAATGGAAGCCTCCTCCCAGGGAATTGGCATTACGAATGTTAACTTTAATGGTAGTGA... | pathogenic | 231,738 |
Clinical classification of chromosome 15, position 45364870, gene GATM (glycine amidinotransferase): benign or pathogenic? Disease(s) if pathogenic? | benign | AATGGTATTTAGGAAGAATCTGTTGTGTTAGATATAGTGGGGTTTTAAAAAGAAAATCTATTATTCTTCCTCAAGGAGCTAATTATTTTGAGAGGAGGATAGGCTACAAAGTCACTAAAGGGTCCATTGGTATAGCCAGGGAGAGGAAGGTGGCATGAGCCATTCAGAAAGACTTTCCTAGTCGCGCATGGTAGCTCACACCCATAATCCCAATGCTATGGGAGGCATAGGTGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGCCCCTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGTG... | AATGGTATTTAGGAAGAATCTGTTGTGTTAGATATAGTGGGGTTTTAAAAAGAAAATCTATTATTCTTCCTCAAGGAGCTAATTATTTTGAGAGGAGGATAGGCTACAAAGTCACTAAAGGGTCCATTGGTATAGCCAGGGAGAGGAAGGTGGCATGAGCCATTCAGAAAGACTTTCCTAGTCGCGCATGGTAGCTCACACCCATAATCCCAATGCTATGGGAGGCATAGGTGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGCCCCTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGTG... | benign | 231,745 |
The mutation in gene GATM (glycine amidinotransferase) at chromosome 15, position 45364870—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AATGGTATTTAGGAAGAATCTGTTGTGTTAGATATAGTGGGGTTTTAAAAAGAAAATCTATTATTCTTCCTCAAGGAGCTAATTATTTTGAGAGGAGGATAGGCTACAAAGTCACTAAAGGGTCCATTGGTATAGCCAGGGAGAGGAAGGTGGCATGAGCCATTCAGAAAGACTTTCCTAGTCGCGCATGGTAGCTCACACCCATAATCCCAATGCTATGGGAGGCATAGGTGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGCCCCTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGTG... | AATGGTATTTAGGAAGAATCTGTTGTGTTAGATATAGTGGGGTTTTAAAAAGAAAATCTATTATTCTTCCTCAAGGAGCTAATTATTTTGAGAGGAGGATAGGCTACAAAGTCACTAAAGGGTCCATTGGTATAGCCAGGGAGAGGAAGGTGGCATGAGCCATTCAGAAAGACTTTCCTAGTCGCGCATGGTAGCTCACACCCATAATCCCAATGCTATGGGAGGCATAGGTGGATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGCCCCTCTCTACTAAAAATACAAAATTAGCCAGGCATGGTGGTG... | benign | 231,746 |
Variant in gene GATM (glycine amidinotransferase), located at chromosome 15 position 45366064: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Arginine:glycine_amidinotransferase_deficiency'] | TCTAAAAACAGCAACAACTGTTAAACCATGTCCGCTATCATTTTTGTTTAAAGCAAGGATTTACAAGTGAAGAATATTAAAGTGACAGCTCAGTTCTTTCAGTAGTTCACTTTCCATGTGAACATTTATTTTAATCTTAAAACAATTTATCTATAAATGGTATGAATCAATCTGTACTCATTATACATTTGAATTTCACCCTGTTTTCTTTTAAAAGTCATATCTTGGCTGGGCATGGTATAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATTCCTTGAGCCTAGGAGTTTGAGACTATTGCCCAGAGATGGTGCC... | TCTAAAAACAGCAACAACTGTTAAACCATGTCCGCTATCATTTTTGTTTAAAGCAAGGATTTACAAGTGAAGAATATTAAAGTGACAGCTCAGTTCTTTCAGTAGTTCACTTTCCATGTGAACATTTATTTTAATCTTAAAACAATTTATCTATAAATGGTATGAATCAATCTGTACTCATTATACATTTGAATTTCACCCTGTTTTCTTTTAAAAGTCATATCTTGGCTGGGCATGGTATAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATTCCTTGAGCCTAGGAGTTTGAGACTATTGCCCAGAGATGGTGCC... | pathogenic | 231,749 |
Gene mutation in GATM (glycine amidinotransferase) at chromosome 15, position 45376405—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TGAAAGTCTATCATTTTAAAGACAAGTAGAAGGATAAATTATTGCTTGGATTTAAATTTTAATTTCACCCAATTAAAATGGTTAGGGGATGGGACTTTTCAAGAAAAGACTTAAAAAGACTACTATGCCTTTTAAAAACATGTGGATGGTGTATAAATTAATCTTCTCATCAAATTCCAAATATCAGAACCAAAGATAGTTTCAGAACAATTAGAAGTTATTACTTTTTCTATTTCCCTGTCTTCCAAGTCTAACTCAGGAGTCATTTTCTTCAAGAGGACTTCTTAACTGGCCAGCCCTTGGTCATTCCTCTTTCCTGG... | TGAAAGTCTATCATTTTAAAGACAAGTAGAAGGATAAATTATTGCTTGGATTTAAATTTTAATTTCACCCAATTAAAATGGTTAGGGGATGGGACTTTTCAAGAAAAGACTTAAAAAGACTACTATGCCTTTTAAAAACATGTGGATGGTGTATAAATTAATCTTCTCATCAAATTCCAAATATCAGAACCAAAGATAGTTTCAGAACAATTAGAAGTTATTACTTTTTCTATTTCCCTGTCTTCCAAGTCTAACTCAGGAGTCATTTTCTTCAAGAGGACTTCTTAACTGGCCAGCCCTTGGTCATTCCTCTTTCCTGG... | benign | 231,776 |
Is the variant located on chromosome 15 at position 45376579, gene GATM (glycine amidinotransferase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TTCCAAATATCAGAACCAAAGATAGTTTCAGAACAATTAGAAGTTATTACTTTTTCTATTTCCCTGTCTTCCAAGTCTAACTCAGGAGTCATTTTCTTCAAGAGGACTTCTTAACTGGCCAGCCCTTGGTCATTCCTCTTTCCTGGCACTTCAACTGCCTTGTCAGTCGACTGGAATAAGATACTTGGTCTTCGTTTCTATGTGAACATCAAATCTCTTCAAATAGAAAGGAAGATCTTTTATATTAATACCTCTAGAGCCCTGGTACATGGTAGGCAATATTTCTGAAGACCACGACAATGCTGTTACAGAACTTCTTT... | TTCCAAATATCAGAACCAAAGATAGTTTCAGAACAATTAGAAGTTATTACTTTTTCTATTTCCCTGTCTTCCAAGTCTAACTCAGGAGTCATTTTCTTCAAGAGGACTTCTTAACTGGCCAGCCCTTGGTCATTCCTCTTTCCTGGCACTTCAACTGCCTTGTCAGTCGACTGGAATAAGATACTTGGTCTTCGTTTCTATGTGAACATCAAATCTCTTCAAATAGAAAGGAAGATCTTTTATATTAATACCTCTAGAGCCCTGGTACATGGTAGGCAATATTTCTGAAGACCACGACAATGCTGTTACAGAACTTCTTT... | benign | 231,777 |
Determine if the mutation at chromosome 15, position 45403034 in gene AFG2B is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hearing_loss,_autosomal_recessive_119'] | ATGCAAAGCTGTTATTTAAAAGTCCCCAAACCAAAAAGAACTGAAGCCAATGGGATTAAGAGGAAAAAAGAAAACAGGAAGTAATGGGTGACTTATCCATTTCAAGACCTCCTCCTGCTATTTTCTGATTCCTAAATTGTTCCAGAATCGATTTAAGCAGACAAGTACAGCTGAGACCAGGTAAGTTACTGTCAAGTCAAGAAGTCTGTCATGTCTGCCATGAAGTTTGGACAGAATGAGATCAGGAACTGGCATGGGTCTTAAGATCCCAGATCTGACAGTACTTCCCATTGATAAGATATTACTACACAGTCTGTAAT... | ATGCAAAGCTGTTATTTAAAAGTCCCCAAACCAAAAAGAACTGAAGCCAATGGGATTAAGAGGAAAAAAGAAAACAGGAAGTAATGGGTGACTTATCCATTTCAAGACCTCCTCCTGCTATTTTCTGATTCCTAAATTGTTCCAGAATCGATTTAAGCAGACAAGTACAGCTGAGACCAGGTAAGTTACTGTCAAGTCAAGAAGTCTGTCATGTCTGCCATGAAGTTTGGACAGAATGAGATCAGGAACTGGCATGGGTCTTAAGATCCCAGATCTGACAGTACTTCCCATTGATAAGATATTACTACACAGTCTGTAAT... | pathogenic | 231,801 |
Is the genetic variant on chromosome 15, position 45606377, gene BLOC1S6 (biogenesis of lysosomal organelles complex 1 subunit 6), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TTCATATTCTCTGGCATTAGAGGCCTGTGGAAGTAAATACAGAGCCATCTGCCCAGTAGTTCCTGGTTTCTTGCGAGGGAGGTGGGCAAGGCTACACTGACCTATTTTTGTGTTCCCCACTGAAATCCTGTTGCAACAGAAGGAATATTTGTTGAATGAATGAATGTTGAATGAATTAACCAAGCAGATGTAATACTGTTGCTTTAGTCTGAAGGGGCAGGATGGAGTCTTCCTCTTTTTTCTTCTCTTAGTCAAGAGTAGTTTTTATTATCATCTGGGAACTGAAAACTGGAAGGCCCAGGATATGTAAAAAGGCACTG... | TTCATATTCTCTGGCATTAGAGGCCTGTGGAAGTAAATACAGAGCCATCTGCCCAGTAGTTCCTGGTTTCTTGCGAGGGAGGTGGGCAAGGCTACACTGACCTATTTTTGTGTTCCCCACTGAAATCCTGTTGCAACAGAAGGAATATTTGTTGAATGAATGAATGTTGAATGAATTAACCAAGCAGATGTAATACTGTTGCTTTAGTCTGAAGGGGCAGGATGGAGTCTTCCTCTTTTTTCTTCTCTTAGTCAAGAGTAGTTTTTATTATCATCTGGGAACTGAAAACTGGAAGGCCCAGGATATGTAAAAAGGCACTG... | benign | 231,814 |
Evaluate if the mutation on chromosome 15 at position 48220661 in SLC12A1 (solute carrier family 12 member 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Bartter_disease_type_1'] | GAAGAAAAAATGGTTTTATCTAAGACTTCTTAACTAGTGATATCAGAACATATCATCCTAGGCTTAAACCAGTTTAGACCACTTAAATAAGATATAGTCATTCTATAATCGTGGTAATTGAGGGCTCAATCTCAGAGCCTTCCCCAGTGGTTTCAAAATCTTTCCTAGAAAAGAAAACTGTTTTCAGAGCTCAAAGAAGTACAGTCTACACAAAGGGCCTGGTAAAAGCCAGATAAGCTAAATTAAGTAAGTGCATCTGAAATTATTCAAACCCATATCTTAAAGAGAAATTATAGATAGAGAACTATTCTCAATTTGAC... | GAAGAAAAAATGGTTTTATCTAAGACTTCTTAACTAGTGATATCAGAACATATCATCCTAGGCTTAAACCAGTTTAGACCACTTAAATAAGATATAGTCATTCTATAATCGTGGTAATTGAGGGCTCAATCTCAGAGCCTTCCCCAGTGGTTTCAAAATCTTTCCTAGAAAAGAAAACTGTTTTCAGAGCTCAAAGAAGTACAGTCTACACAAAGGGCCTGGTAAAAGCCAGATAAGCTAAATTAAGTAAGTGCATCTGAAATTATTCAAACCCATATCTTAAAGAGAAATTATAGATAGAGAACTATTCTCAATTTGAC... | pathogenic | 231,835 |
Evaluate the clinical significance of the mutation at chromosome 15, position 48220955 in gene SLC12A1 (solute carrier family 12 member 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['SLC12A1-related_disorder'] | AGATAGAGAACTATTCTCAATTTGACAGAAAAAGAGCTGTTTCCTGCCCTCTTGAGCTCAGATACTATTGTAATGAGAATGGAAGTCTTTTTCAAAATGAGGCCACAGGAAAAAACCATATAAAAGTTTAAACCCTTATTTATACTACCAACTTCTTATTTCTACTCAACTAGTAATCAGTTATGAAACTTCTTATCTTCTATAAGATACTAGCATATTCAACAATTCTCAGGCAAAGGCATAACGGAATCTCAAAGAAACTTCTACAGGAATAACATTCTTGTCATCATCCAGTGCATTTAAACTTTTGTGGAATACTT... | AGATAGAGAACTATTCTCAATTTGACAGAAAAAGAGCTGTTTCCTGCCCTCTTGAGCTCAGATACTATTGTAATGAGAATGGAAGTCTTTTTCAAAATGAGGCCACAGGAAAAAACCATATAAAAGTTTAAACCCTTATTTATACTACCAACTTCTTATTTCTACTCAACTAGTAATCAGTTATGAAACTTCTTATCTTCTATAAGATACTAGCATATTCAACAATTCTCAGGCAAAGGCATAACGGAATCTCAAAGAAACTTCTACAGGAATAACATTCTTGTCATCATCCAGTGCATTTAAACTTTTGTGGAATACTT... | pathogenic | 231,837 |
A genetic variant on chromosome 15, position 48229309, affects the gene SLC12A1 (solute carrier family 12 member 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Bartter_disease_type_1'] | TTGCTAATTAGTCCCCAGTGTCCTAAACAAAATAACCCAAAATTTAAACAGCAAAGCAAAATTTTTCTCAACTAAAATTGGAATATCTTCATTGACATGACCCATTTCTTGTAACAAAACATGTTTATAAAGTGGAGAGTGACTATGTGTCTAGTAAGAAGGTATGGAATATTATAGCAAAATATATGGTTTCTTTGTACCTTGGATGAGACCCACTGGCTCTCTCGCAGGTCCTCTCAGCATGGGTCTTCTCCAATGCCCCAGATGGCATTGCTGATGATTGCCACTCAGTAAACCACTCCTGCACCCAGGCCTCGGGG... | TTGCTAATTAGTCCCCAGTGTCCTAAACAAAATAACCCAAAATTTAAACAGCAAAGCAAAATTTTTCTCAACTAAAATTGGAATATCTTCATTGACATGACCCATTTCTTGTAACAAAACATGTTTATAAAGTGGAGAGTGACTATGTGTCTAGTAAGAAGGTATGGAATATTATAGCAAAATATATGGTTTCTTTGTACCTTGGATGAGACCCACTGGCTCTCTCGCAGGTCCTCTCAGCATGGGTCTTCTCCAATGCCCCAGATGGCATTGCTGATGATTGCCACTCAGTAAACCACTCCTGCACCCAGGCCTCGGGG... | pathogenic | 231,846 |
A genetic variant on chromosome 15, position 48230430, affects the gene SLC12A1 (solute carrier family 12 member 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Bartter_disease_type_1'] | CAACAGGCAAGGGACCTACTTGTCACACCCATACATATATGGGTATTTAGGAATAATCGTGCCTTCTTGAGCTAAAAACATAGAAAACCAAGTTTGATTTATCGAATGAATAATACATCATACTCTATAGATATCTTGTTTTATGCAGCACATATATATCAGAAAATTTTACGTATGTACCTATATATGTTTTGTATATATATGTTTATATATATATATCATGCCTTCTTTCACTAAAAACATAGAAAAGCAAGTTTGATTTAAAGAATGGATAATACAGATATCTTATTTTATGCAGCACATATATATTAGGAAATTGT... | CAACAGGCAAGGGACCTACTTGTCACACCCATACATATATGGGTATTTAGGAATAATCGTGCCTTCTTGAGCTAAAAACATAGAAAACCAAGTTTGATTTATCGAATGAATAATACATCATACTCTATAGATATCTTGTTTTATGCAGCACATATATATCAGAAAATTTTACGTATGTACCTATATATGTTTTGTATATATATGTTTATATATATATATCATGCCTTCTTTCACTAAAAACATAGAAAAGCAAGTTTGATTTAAAGAATGGATAATACAGATATCTTATTTTATGCAGCACATATATATTAGGAAATTGT... | pathogenic | 231,847 |
Classify the chromosome 15 variant at position 48249575 affecting gene SLC12A1 (solute carrier family 12 member 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Bartter_disease_type_1'] | TTTTAGTTTGAAAAATTACTCGTTTTATGTTTAGGATCCCATTTGGGAATATTGGCATCTAAGAAGGAAATGAGAAATCCTTGTGTGTAGAGGGCCTTTGAGGAACTCGAGGTAGACTTTGAATTTTAATCTATTCTTTGAATCTTGAGTGTTCGAAATCCATCCAACCACATGACGCTGAATCCTTCCTCCCACCTGCCTGAAACTGTCTAAATCTACAGTCTCCCCCAGCTGCCATATCTACTGACCTGATGGCTAGCAGAATTGAATTGCCTGTTAGTGTTTCTGGAAATGTGGTCCACTGACCATCTATATCGCAA... | TTTTAGTTTGAAAAATTACTCGTTTTATGTTTAGGATCCCATTTGGGAATATTGGCATCTAAGAAGGAAATGAGAAATCCTTGTGTGTAGAGGGCCTTTGAGGAACTCGAGGTAGACTTTGAATTTTAATCTATTCTTTGAATCTTGAGTGTTCGAAATCCATCCAACCACATGACGCTGAATCCTTCCTCCCACCTGCCTGAAACTGTCTAAATCTACAGTCTCCCCCAGCTGCCATATCTACTGACCTGATGGCTAGCAGAATTGAATTGCCTGTTAGTGTTTCTGGAAATGTGGTCCACTGACCATCTATATCGCAA... | pathogenic | 231,868 |
Is the genetic variant on chromosome 15, position 48251656, gene SLC12A1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bartter_disease_type_1'] | ACTTTTTCCTGGCCTCATATGCACTTATTAATTTCTCCTGCTTCCATGCCTCTTATGCCAAATCTCCAGGTAAGCTGACTTCCAAACTAAAATATGCCTAAGCAAACAGTTAGTTTGTCTCAATAAAACGAAATAAATCAGTGAAAAGTGTTCAATCTGTGTTTATATGTTTCCTTATATCCTAGTGGGAAGCGTAATCCACTTTATTTTGGTGAGTTTGGGGATGAGTTTTGAAATAGAAAAAGAATCATTTGAGCAATGGCCTTTTTGACCAACCAGAAAGTCAATTTTCTCCTGTGGCAATAAATTATTCATTGCAA... | ACTTTTTCCTGGCCTCATATGCACTTATTAATTTCTCCTGCTTCCATGCCTCTTATGCCAAATCTCCAGGTAAGCTGACTTCCAAACTAAAATATGCCTAAGCAAACAGTTAGTTTGTCTCAATAAAACGAAATAAATCAGTGAAAAGTGTTCAATCTGTGTTTATATGTTTCCTTATATCCTAGTGGGAAGCGTAATCCACTTTATTTTGGTGAGTTTGGGGATGAGTTTTGAAATAGAAAAAGAATCATTTGAGCAATGGCCTTTTTGACCAACCAGAAAGTCAATTTTCTCCTGTGGCAATAAATTATTCATTGCAA... | pathogenic | 231,870 |
Regarding the variant at chromosome 15 and position 48259183, affecting gene SLC12A1 (solute carrier family 12 member 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AAATGATCTCCTTTGACTCCATGTCTCATATCCAGGTCATGTTGATGCAAGGTGGGTTCCCAAGGTGTTGAGCAGCTCTGCCCCTGTGGCTTTGCAGGGTACAGCCTCCCTCCTGGCTGCTTTCACTGGCTGGTGTTGAGTGTCTGCAGCTTTTCCAGGTGCACAGTGCAAACTGTCGGTGGATCTACCATTCTGGGGTCTAGAGGACTGTGGTCCTCTTCTTACAGATCTACTAGGCAGTGCCCCAGTGGGGAGTCTGTCTGGGGGCTCCGACCCCACATTTTCCTTCTGCACTACCCTAGCAGAGGTTCTCCATGAGT... | AAATGATCTCCTTTGACTCCATGTCTCATATCCAGGTCATGTTGATGCAAGGTGGGTTCCCAAGGTGTTGAGCAGCTCTGCCCCTGTGGCTTTGCAGGGTACAGCCTCCCTCCTGGCTGCTTTCACTGGCTGGTGTTGAGTGTCTGCAGCTTTTCCAGGTGCACAGTGCAAACTGTCGGTGGATCTACCATTCTGGGGTCTAGAGGACTGTGGTCCTCTTCTTACAGATCTACTAGGCAGTGCCCCAGTGGGGAGTCTGTCTGGGGGCTCCGACCCCACATTTTCCTTCTGCACTACCCTAGCAGAGGTTCTCCATGAGT... | benign | 231,879 |
Is the genetic change at chromosome 15, position 48267643, within gene SLC12A1 (solute carrier family 12 member 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bartter_disease_type_1'] | AGGTCATCTAGTTTAGTAACTACCCTGCCAATCTCTCTATCTTTTCTATCTTCATGGAAGTTTCTTGTTTTTAAATTTTCCTTTAATGGGAAGTCAACCAAACTGTTTTGAAAAGTTGGCAGGTTCTAGGAAATATGCTGGAAAAAATAAGAATATAAAGAGTCTGATCCAATTTAAATAGAATATTAAAATGGAAGGGACCCCAGAGATTGAATGTTGTGTAATAGAAATATATTATGTGCCATATATGTAATTTAAAATTTTCTAGTAGCCAATTAAAAAGGAAAAAGAAATAGGTAAAGTTATTTTTAATAATATTG... | AGGTCATCTAGTTTAGTAACTACCCTGCCAATCTCTCTATCTTTTCTATCTTCATGGAAGTTTCTTGTTTTTAAATTTTCCTTTAATGGGAAGTCAACCAAACTGTTTTGAAAAGTTGGCAGGTTCTAGGAAATATGCTGGAAAAAATAAGAATATAAAGAGTCTGATCCAATTTAAATAGAATATTAAAATGGAAGGGACCCCAGAGATTGAATGTTGTGTAATAGAAATATATTATGTGCCATATATGTAATTTAAAATTTTCTAGTAGCCAATTAAAAAGGAAAAAGAAATAGGTAAAGTTATTTTTAATAATATTG... | pathogenic | 231,890 |
Is chromosome 15, position 48285112, gene SLC12A1 (solute carrier family 12 member 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Bartter_disease_type_1'] | ATAAATAGCAATTGCTAAAATAACTCCCAGGCATCTCAAAATACTCAATTTGTTTTGCATGACTAGGCCCATTTCCAAAAGTTGCATAAATATACTGCCTATAGAATGCCATTCTTGCTCTGTTTTTTAAGGACCTCCAAAACACTATGCAGAAACTTTGTTTATTCTTTTTGCAAAGCTTGGGGGGTGGGAAAAGGAAAGGGTTACAGTTTTCCATTTCACAGACGGGAAATCCGAGGCATAGAAAAAGTAAATTACTTGCCTAATGTCACATAAAGCCAGCAGCAGAGCTGTAATTGGTTGTGACCCCCCAGTGCAAT... | ATAAATAGCAATTGCTAAAATAACTCCCAGGCATCTCAAAATACTCAATTTGTTTTGCATGACTAGGCCCATTTCCAAAAGTTGCATAAATATACTGCCTATAGAATGCCATTCTTGCTCTGTTTTTTAAGGACCTCCAAAACACTATGCAGAAACTTTGTTTATTCTTTTTGCAAAGCTTGGGGGGTGGGAAAAGGAAAGGGTTACAGTTTTCCATTTCACAGACGGGAAATCCGAGGCATAGAAAAAGTAAATTACTTGCCTAATGTCACATAAAGCCAGCAGCAGAGCTGTAATTGGTTGTGACCCCCCAGTGCAAT... | pathogenic | 231,900 |
A genetic variant at chromosome 15, position 48288441, affecting gene SLC12A1 (solute carrier family 12 member 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Bartter_disease_type_1'] | TTAGGGTGAAAATATTTAAATAAGACTGTTCTGGATGCTAACTATTATCTTCTTTTCTTTCTAATTATTTGGTTTAACTGTGAAAAAAGTTAACAATCCATTAAATCTGCTCTATTAAGTGGTACAGTCTGGAAAATAATGGGAAATTCCAAAGTCATAGCCCAATAATGTGCTCCAACTAGAGAGAGGGAAGCATTAATGTCCTTATTATGACAGCGGGACTTGTTATTTATTCTGGAAGCTTATTTCTGCGTCACAATACTTGTTTTGGCAAAAATATACTCTTCCAAAAGTCAACATGTCAAATTGTTCAGAAAAGA... | TTAGGGTGAAAATATTTAAATAAGACTGTTCTGGATGCTAACTATTATCTTCTTTTCTTTCTAATTATTTGGTTTAACTGTGAAAAAAGTTAACAATCCATTAAATCTGCTCTATTAAGTGGTACAGTCTGGAAAATAATGGGAAATTCCAAAGTCATAGCCCAATAATGTGCTCCAACTAGAGAGAGGGAAGCATTAATGTCCTTATTATGACAGCGGGACTTGTTATTTATTCTGGAAGCTTATTTCTGCGTCACAATACTTGTTTTGGCAAAAATATACTCTTCCAAAAGTCAACATGTCAAATTGTTCAGAAAAGA... | pathogenic | 231,908 |
Gene mutation in SLC12A1 (solute carrier family 12 member 1) at chromosome 15, position 48288506—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Bartter_disease_type_1'] | TATTTGGTTTAACTGTGAAAAAAGTTAACAATCCATTAAATCTGCTCTATTAAGTGGTACAGTCTGGAAAATAATGGGAAATTCCAAAGTCATAGCCCAATAATGTGCTCCAACTAGAGAGAGGGAAGCATTAATGTCCTTATTATGACAGCGGGACTTGTTATTTATTCTGGAAGCTTATTTCTGCGTCACAATACTTGTTTTGGCAAAAATATACTCTTCCAAAAGTCAACATGTCAAATTGTTCAGAAAAGAAAAGTAATAATGTTATATACTGTTTTAATACCTAGAAGTTTAAACACAGCTCTAAAGTGGGCCCA... | TATTTGGTTTAACTGTGAAAAAAGTTAACAATCCATTAAATCTGCTCTATTAAGTGGTACAGTCTGGAAAATAATGGGAAATTCCAAAGTCATAGCCCAATAATGTGCTCCAACTAGAGAGAGGGAAGCATTAATGTCCTTATTATGACAGCGGGACTTGTTATTTATTCTGGAAGCTTATTTCTGCGTCACAATACTTGTTTTGGCAAAAATATACTCTTCCAAAAGTCAACATGTCAAATTGTTCAGAAAAGAAAAGTAATAATGTTATATACTGTTTTAATACCTAGAAGTTTAAACACAGCTCTAAAGTGGGCCCA... | pathogenic | 231,909 |
Evaluate this variant at chromosome 15, position 48410029, gene FBN1 (fibrillin 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TACTGGGTTTCAAAAAAAGCATAATGAAGTAAATTGTTTTTTTTTTCTTCTCTCTTTTTTACAAAGTGTTATTTTAAATTGGCAAGGGGTAAATATCTGTCTTCAGCTATAAATGTGAAACTAATATTTCTGCCAGTAATGATCTTCTAACTTTAAAAACAATGTCCTTAAATCATTTAATAATTACATTCCTAATAATTACATTTCTAATACAGTTCTCTAAGAACTACAGTTAAAACCAGAATAAAATATATTCTGTGGACCAAGTTGATGGTAATTTTAAAATCCCTAACATTTATGGGTATATAACTTTTAAGGAT... | TACTGGGTTTCAAAAAAAGCATAATGAAGTAAATTGTTTTTTTTTTCTTCTCTCTTTTTTACAAAGTGTTATTTTAAATTGGCAAGGGGTAAATATCTGTCTTCAGCTATAAATGTGAAACTAATATTTCTGCCAGTAATGATCTTCTAACTTTAAAAACAATGTCCTTAAATCATTTAATAATTACATTCCTAATAATTACATTTCTAATACAGTTCTCTAAGAACTACAGTTAAAACCAGAATAAAATATATTCTGTGGACCAAGTTGATGGTAATTTTAAAATCCCTAACATTTATGGGTATATAACTTTTAAGGAT... | benign | 231,933 |
Considering the variant on chromosome 15, location 48411009, involving gene FBN1 (fibrillin 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Marfan_syndrome'] | ACACCTCTATCACATGGTTCCATAGGTGCAGCGTTAGAAGGAAATTTTGAGTTATATTTTAATCTCTTACCCAAGGTACAAACCCCCTTTGTAACAGCCATTCAGCTCATTCTGTTGAGCACCTATTATAAACAAAATTAGAGATACAAAAATACCTTTAAGATGTTAATGGCCTGTTAGGTGGAAGAAAGCATCTTTGTCCAATGGTTGCCATTAAGCCTAGACTGAAACTCTTCTATCTTGTGACAGGGAGCTCACCACAATGCAAGGAAACCCATTCTTTCAGTGAGTAGCTCTATAATTGGGACCGTGTGTATTAA... | ACACCTCTATCACATGGTTCCATAGGTGCAGCGTTAGAAGGAAATTTTGAGTTATATTTTAATCTCTTACCCAAGGTACAAACCCCCTTTGTAACAGCCATTCAGCTCATTCTGTTGAGCACCTATTATAAACAAAATTAGAGATACAAAAATACCTTTAAGATGTTAATGGCCTGTTAGGTGGAAGAAAGCATCTTTGTCCAATGGTTGCCATTAAGCCTAGACTGAAACTCTTCTATCTTGTGACAGGGAGCTCACCACAATGCAAGGAAACCCATTCTTTCAGTGAGTAGCTCTATAATTGGGACCGTGTGTATTAA... | pathogenic | 231,941 |
Does the variant on chromosome 15 at location 48411061 affecting gene FBN1 (fibrillin 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TATATTTTAATCTCTTACCCAAGGTACAAACCCCCTTTGTAACAGCCATTCAGCTCATTCTGTTGAGCACCTATTATAAACAAAATTAGAGATACAAAAATACCTTTAAGATGTTAATGGCCTGTTAGGTGGAAGAAAGCATCTTTGTCCAATGGTTGCCATTAAGCCTAGACTGAAACTCTTCTATCTTGTGACAGGGAGCTCACCACAATGCAAGGAAACCCATTCTTTCAGTGAGTAGCTCTATAATTGGGACCGTGTGTATTAAACTGGGGCTGACATCAGCTGACCCTGGTTTTGCCTTCCGGAATAGTATGAGC... | TATATTTTAATCTCTTACCCAAGGTACAAACCCCCTTTGTAACAGCCATTCAGCTCATTCTGTTGAGCACCTATTATAAACAAAATTAGAGATACAAAAATACCTTTAAGATGTTAATGGCCTGTTAGGTGGAAGAAAGCATCTTTGTCCAATGGTTGCCATTAAGCCTAGACTGAAACTCTTCTATCTTGTGACAGGGAGCTCACCACAATGCAAGGAAACCCATTCTTTCAGTGAGTAGCTCTATAATTGGGACCGTGTGTATTAAACTGGGGCTGACATCAGCTGACCCTGGTTTTGCCTTCCGGAATAGTATGAGC... | pathogenic | 231,944 |
Variant on chromosome 15, at position 48411061, affecting FBN1 (fibrillin 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TATATTTTAATCTCTTACCCAAGGTACAAACCCCCTTTGTAACAGCCATTCAGCTCATTCTGTTGAGCACCTATTATAAACAAAATTAGAGATACAAAAATACCTTTAAGATGTTAATGGCCTGTTAGGTGGAAGAAAGCATCTTTGTCCAATGGTTGCCATTAAGCCTAGACTGAAACTCTTCTATCTTGTGACAGGGAGCTCACCACAATGCAAGGAAACCCATTCTTTCAGTGAGTAGCTCTATAATTGGGACCGTGTGTATTAAACTGGGGCTGACATCAGCTGACCCTGGTTTTGCCTTCCGGAATAGTATGAGC... | TATATTTTAATCTCTTACCCAAGGTACAAACCCCCTTTGTAACAGCCATTCAGCTCATTCTGTTGAGCACCTATTATAAACAAAATTAGAGATACAAAAATACCTTTAAGATGTTAATGGCCTGTTAGGTGGAAGAAAGCATCTTTGTCCAATGGTTGCCATTAAGCCTAGACTGAAACTCTTCTATCTTGTGACAGGGAGCTCACCACAATGCAAGGAAACCCATTCTTTCAGTGAGTAGCTCTATAATTGGGACCGTGTGTATTAAACTGGGGCTGACATCAGCTGACCCTGGTTTTGCCTTCCGGAATAGTATGAGC... | pathogenic | 231,945 |
Is the genetic variant on chromosome 15, position 48411076, gene FBN1 (fibrillin 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_Syndrome/Loeys-Dietz_Syndrome/Familial_Thoracic_Aortic_Aneurysms_and_Dissections', 'Marfan_syndrome'] | TACCCAAGGTACAAACCCCCTTTGTAACAGCCATTCAGCTCATTCTGTTGAGCACCTATTATAAACAAAATTAGAGATACAAAAATACCTTTAAGATGTTAATGGCCTGTTAGGTGGAAGAAAGCATCTTTGTCCAATGGTTGCCATTAAGCCTAGACTGAAACTCTTCTATCTTGTGACAGGGAGCTCACCACAATGCAAGGAAACCCATTCTTTCAGTGAGTAGCTCTATAATTGGGACCGTGTGTATTAAACTGGGGCTGACATCAGCTGACCCTGGTTTTGCCTTCCGGAATAGTATGAGCCAAATCTACTCCATT... | TACCCAAGGTACAAACCCCCTTTGTAACAGCCATTCAGCTCATTCTGTTGAGCACCTATTATAAACAAAATTAGAGATACAAAAATACCTTTAAGATGTTAATGGCCTGTTAGGTGGAAGAAAGCATCTTTGTCCAATGGTTGCCATTAAGCCTAGACTGAAACTCTTCTATCTTGTGACAGGGAGCTCACCACAATGCAAGGAAACCCATTCTTTCAGTGAGTAGCTCTATAATTGGGACCGTGTGTATTAAACTGGGGCTGACATCAGCTGACCCTGGTTTTGCCTTCCGGAATAGTATGAGCCAAATCTACTCCATT... | pathogenic | 231,948 |
Evaluate the clinical significance of the mutation at chromosome 15, position 48411089 in gene FBN1 (fibrillin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | AACCCCCTTTGTAACAGCCATTCAGCTCATTCTGTTGAGCACCTATTATAAACAAAATTAGAGATACAAAAATACCTTTAAGATGTTAATGGCCTGTTAGGTGGAAGAAAGCATCTTTGTCCAATGGTTGCCATTAAGCCTAGACTGAAACTCTTCTATCTTGTGACAGGGAGCTCACCACAATGCAAGGAAACCCATTCTTTCAGTGAGTAGCTCTATAATTGGGACCGTGTGTATTAAACTGGGGCTGACATCAGCTGACCCTGGTTTTGCCTTCCGGAATAGTATGAGCCAAATCTACTCCATTTTTTTCAGCTGAG... | AACCCCCTTTGTAACAGCCATTCAGCTCATTCTGTTGAGCACCTATTATAAACAAAATTAGAGATACAAAAATACCTTTAAGATGTTAATGGCCTGTTAGGTGGAAGAAAGCATCTTTGTCCAATGGTTGCCATTAAGCCTAGACTGAAACTCTTCTATCTTGTGACAGGGAGCTCACCACAATGCAAGGAAACCCATTCTTTCAGTGAGTAGCTCTATAATTGGGACCGTGTGTATTAAACTGGGGCTGACATCAGCTGACCCTGGTTTTGCCTTCCGGAATAGTATGAGCCAAATCTACTCCATTTTTTTCAGCTGAG... | pathogenic | 231,950 |
A mutation at chromosome position 48411162 on chromosome 15 in gene FBN1 (fibrillin 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | ACCTTTAAGATGTTAATGGCCTGTTAGGTGGAAGAAAGCATCTTTGTCCAATGGTTGCCATTAAGCCTAGACTGAAACTCTTCTATCTTGTGACAGGGAGCTCACCACAATGCAAGGAAACCCATTCTTTCAGTGAGTAGCTCTATAATTGGGACCGTGTGTATTAAACTGGGGCTGACATCAGCTGACCCTGGTTTTGCCTTCCGGAATAGTATGAGCCAAATCTACTCCATTTTTTTCAGCTGAGCTCTTCAAAGATTTTTGAGAGCACTTTCCTGTGTCCTACCTAGTTTCTCCGCCCACCACCTTCATGCCATCTT... | ACCTTTAAGATGTTAATGGCCTGTTAGGTGGAAGAAAGCATCTTTGTCCAATGGTTGCCATTAAGCCTAGACTGAAACTCTTCTATCTTGTGACAGGGAGCTCACCACAATGCAAGGAAACCCATTCTTTCAGTGAGTAGCTCTATAATTGGGACCGTGTGTATTAAACTGGGGCTGACATCAGCTGACCCTGGTTTTGCCTTCCGGAATAGTATGAGCCAAATCTACTCCATTTTTTTCAGCTGAGCTCTTCAAAGATTTTTGAGAGCACTTTCCTGTGTCCTACCTAGTTTCTCCGCCCACCACCTTCATGCCATCTT... | pathogenic | 231,956 |
Considering the genetic mutation at chromosome 15, position 48411189, impacting FBN1 (fibrillin 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Marfan_syndrome'] | GTGGAAGAAAGCATCTTTGTCCAATGGTTGCCATTAAGCCTAGACTGAAACTCTTCTATCTTGTGACAGGGAGCTCACCACAATGCAAGGAAACCCATTCTTTCAGTGAGTAGCTCTATAATTGGGACCGTGTGTATTAAACTGGGGCTGACATCAGCTGACCCTGGTTTTGCCTTCCGGAATAGTATGAGCCAAATCTACTCCATTTTTTTCAGCTGAGCTCTTCAAAGATTTTTGAGAGCACTTTCCTGTGTCCTACCTAGTTTCTCCGCCCACCACCTTCATGCCATCTTATTTCCTCTTATTTTCACTACCACGAA... | GTGGAAGAAAGCATCTTTGTCCAATGGTTGCCATTAAGCCTAGACTGAAACTCTTCTATCTTGTGACAGGGAGCTCACCACAATGCAAGGAAACCCATTCTTTCAGTGAGTAGCTCTATAATTGGGACCGTGTGTATTAAACTGGGGCTGACATCAGCTGACCCTGGTTTTGCCTTCCGGAATAGTATGAGCCAAATCTACTCCATTTTTTTCAGCTGAGCTCTTCAAAGATTTTTGAGAGCACTTTCCTGTGTCCTACCTAGTTTCTCCGCCCACCACCTTCATGCCATCTTATTTCCTCTTATTTTCACTACCACGAA... | pathogenic | 231,958 |
Variant in FBN1 (fibrillin 1), chromosome 15, position 48412734—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TGGAAGGATGGCATGTCAGCATAAATGGCCAACCCCCAATGGAAATACACGTCCCAGTTTTCAAGAATCAACACATATGACAAGGTAGCTTAGCTACACACATGAGAAGCCTGAGAAAGTGGTTGTTTTGAACTAGGGTAGTCACCTGTACCTTGCTTTGGTAATACAAAGAATAGTGCTTATTTATACAAATTTACTTGGTGAAAGATTGTACCTATGATATGATGATTCTGATTGGGGGAAAATATAGTTCTACCTATCTATATTTGTTTTTCTTTTAATTATTTGGTCTCTGGATGGTGAATTAATGAAGCAAAACC... | TGGAAGGATGGCATGTCAGCATAAATGGCCAACCCCCAATGGAAATACACGTCCCAGTTTTCAAGAATCAACACATATGACAAGGTAGCTTAGCTACACACATGAGAAGCCTGAGAAAGTGGTTGTTTTGAACTAGGGTAGTCACCTGTACCTTGCTTTGGTAATACAAAGAATAGTGCTTATTTATACAAATTTACTTGGTGAAAGATTGTACCTATGATATGATGATTCTGATTGGGGGAAAATATAGTTCTACCTATCTATATTTGTTTTTCTTTTAATTATTTGGTCTCTGGATGGTGAATTAATGAAGCAAAACC... | pathogenic | 231,987 |
Regarding the variant found on chromosome 15 at position 48415536 in gene FBN1 (fibrillin 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Marfan_syndrome'] | TTCAGTTATCAAAGCCAAGTTACGGAGGGAGGCTCGAATGTTTCACAAGTACCTTGTTTTGTTATTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTT... | TTCAGTTATCAAAGCCAAGTTACGGAGGGAGGCTCGAATGTTTCACAAGTACCTTGTTTTGTTATTCTGCTTACTATTTCAGAGGCCACTTGGAATGTGTATTTATCAAGCTCCTCTTTCCAAATGTGTTGAAACATTTGAATGGTCCTTAAAAGAATCTTTATTTGGGGGCAGAGTCCATTCTAGTGATTCGGAGAGGCCAAAACTGTTTTAAATGGGTAGATTTCTAACAATGGGTCATAATATAGACCAAAAATTATTTATCTGTTTTTCTGTAATAGCTGATCTGCTCTTTAGAACTAATTTTCCTATATACCCTT... | pathogenic | 231,991 |
The mutation impacting FBN1 (fibrillin 1) on chromosome 15 at position 48420776: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TTTTACCAAAATAGCATTAAAGTCTGAAAACTACTCCTTAAAAGTGGATTGAAACCCACCACTCTGTCCTCTAAAATCAAAGGTTTCAGCATCCAGCTTGCACTGTTCATGTTAGCTGTGGCCTTAAGGGAGTACCGATAGGAAACTTCACAAATGCAGGATGGGCTTTCTTTTACTCATTTTCTCTAGGGGAAAATGGGTCAACTCTATCTATCTGCAAGCTGAATTTTTTGAAATTTACTTCTAGAAAGCAATGAAATTAGTGGCCCTCTTACCCCAAAGAGTGAACTTCCAGCCACCTGGGAGTGAGGATCCAGGGA... | TTTTACCAAAATAGCATTAAAGTCTGAAAACTACTCCTTAAAAGTGGATTGAAACCCACCACTCTGTCCTCTAAAATCAAAGGTTTCAGCATCCAGCTTGCACTGTTCATGTTAGCTGTGGCCTTAAGGGAGTACCGATAGGAAACTTCACAAATGCAGGATGGGCTTTCTTTTACTCATTTTCTCTAGGGGAAAATGGGTCAACTCTATCTATCTGCAAGCTGAATTTTTTGAAATTTACTTCTAGAAAGCAATGAAATTAGTGGCCCTCTTACCCCAAAGAGTGAACTTCCAGCCACCTGGGAGTGAGGATCCAGGGA... | pathogenic | 232,059 |
For chromosome 15, position 48425386, gene FBN1 (fibrillin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Marfan_Syndrome/Loeys-Dietz_Syndrome/Familial_Thoracic_Aortic_Aneurysms_and_Dissections'] | TGGAGTGGACCTACACTGAGAGACCCTCCCGAGACCTGTCCTAGTTCCGGCTTCTCTTATAATGCTGCCTGTCCTGTGCTCTTTCCACTGCTGAGATCTTGACTGATATGCACTCTCTGTTCAGCTTTCTCAGAGTCTGTGGACTGGTTTCCCCTGTCTATGGCCCAAGGAGCTTGGCTGGAGCATCATGACACATTTGCTGAAGCTCACCTGCAACAGGTGAGGAAGATGACTCAGTGATTTCTCCTAACACCATTTCATGAGTACAACACATGAAGAACAGCAGCACTTGCTGCTCTTGCCTCCAAGATGCCCTTCCT... | TGGAGTGGACCTACACTGAGAGACCCTCCCGAGACCTGTCCTAGTTCCGGCTTCTCTTATAATGCTGCCTGTCCTGTGCTCTTTCCACTGCTGAGATCTTGACTGATATGCACTCTCTGTTCAGCTTTCTCAGAGTCTGTGGACTGGTTTCCCCTGTCTATGGCCCAAGGAGCTTGGCTGGAGCATCATGACACATTTGCTGAAGCTCACCTGCAACAGGTGAGGAAGATGACTCAGTGATTTCTCCTAACACCATTTCATGAGTACAACACATGAAGAACAGCAGCACTTGCTGCTCTTGCCTCCAAGATGCCCTTCCT... | pathogenic | 232,120 |
Variant chromosome 15, position 48425732, gene FBN1 (fibrillin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TACCCATCTCTCACTGGGGATGTGCTGCTCCCACGGCCACCCTTCTGGCTTCCTCCTTCTCAGTGACTGTGGTGCAACTATCTGCACTATTCATTTGATATTTAGTTATATATACCAAGTAAGTGGAAGAATTTGAACCTTATGGGAAAAAACAGGAAAAGGGACAAGTTGTGAGTGGACATGTAAAAATTACAGTTGCTCTTTGCACTCCTAAAGCCATAAAGAGAACTTTATTGATGCATTTTCATTTTTCATCTTTTAATTGCTGGAAACTTTTGAGAATTTTCTGCCCCCAGAGGTTAGAAAAAATGCTATAAATT... | TACCCATCTCTCACTGGGGATGTGCTGCTCCCACGGCCACCCTTCTGGCTTCCTCCTTCTCAGTGACTGTGGTGCAACTATCTGCACTATTCATTTGATATTTAGTTATATATACCAAGTAAGTGGAAGAATTTGAACCTTATGGGAAAAAACAGGAAAAGGGACAAGTTGTGAGTGGACATGTAAAAATTACAGTTGCTCTTTGCACTCCTAAAGCCATAAAGAGAACTTTATTGATGCATTTTCATTTTTCATCTTTTAATTGCTGGAAACTTTTGAGAATTTTCTGCCCCCAGAGGTTAGAAAAAATGCTATAAATT... | pathogenic | 232,145 |
Chromosome 15, position 48425806, gene FBN1 (fibrillin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Marfan_syndrome'] | CAACTATCTGCACTATTCATTTGATATTTAGTTATATATACCAAGTAAGTGGAAGAATTTGAACCTTATGGGAAAAAACAGGAAAAGGGACAAGTTGTGAGTGGACATGTAAAAATTACAGTTGCTCTTTGCACTCCTAAAGCCATAAAGAGAACTTTATTGATGCATTTTCATTTTTCATCTTTTAATTGCTGGAAACTTTTGAGAATTTTCTGCCCCCAGAGGTTAGAAAAAATGCTATAAATTTGTTTTGCTTGTTACAGATAATATATACAATGAGAGATATTTTCCCCTTGAATTTGGTTCTTCATTTATATGAA... | CAACTATCTGCACTATTCATTTGATATTTAGTTATATATACCAAGTAAGTGGAAGAATTTGAACCTTATGGGAAAAAACAGGAAAAGGGACAAGTTGTGAGTGGACATGTAAAAATTACAGTTGCTCTTTGCACTCCTAAAGCCATAAAGAGAACTTTATTGATGCATTTTCATTTTTCATCTTTTAATTGCTGGAAACTTTTGAGAATTTTCTGCCCCCAGAGGTTAGAAAAAATGCTATAAATTTGTTTTGCTTGTTACAGATAATATATACAATGAGAGATATTTTCCCCTTGAATTTGGTTCTTCATTTATATGAA... | pathogenic | 232,157 |
Chromosome 15, position 48427602, gene FBN1 (fibrillin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_Syndrome/Loeys-Dietz_Syndrome/Familial_Thoracic_Aortic_Aneurysms_and_Dissections', 'Marfan_syndrome'] | CACAGGGTCTAACGAAGAATTTTAGTTTCGGGGAAAGAAAAAGGAAACTCTGTGTAGACTTTGATGATTGTCCTGTGCTTTCCTATGAAACTGCACAGACTTTTTAGATTTTTAGCTTTGGGTTTTTTTTTTTCCATAATCTAAAATTTCCACTTGAGGATAAGCCATCAGAAATAGACACTTACCTACACAGGAAGTCCCAGTTATATCTGGAGTGTACCCAGTTTTACAAATGCAATGATATGATCCTCTGTCATTGACACATTCCCCATTTCGGCAAACATCGTGAATAACCTTGCATTCATCGATATCTGTAATTT... | CACAGGGTCTAACGAAGAATTTTAGTTTCGGGGAAAGAAAAAGGAAACTCTGTGTAGACTTTGATGATTGTCCTGTGCTTTCCTATGAAACTGCACAGACTTTTTAGATTTTTAGCTTTGGGTTTTTTTTTTTCCATAATCTAAAATTTCCACTTGAGGATAAGCCATCAGAAATAGACACTTACCTACACAGGAAGTCCCAGTTATATCTGGAGTGTACCCAGTTTTACAAATGCAATGATATGATCCTCTGTCATTGACACATTCCCCATTTCGGCAAACATCGTGAATAACCTTGCATTCATCGATATCTGTAATTT... | pathogenic | 232,179 |
Is the genetic change at chromosome 15, position 48427618, within gene FBN1 (fibrillin 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Marfan_syndrome'] | GAATTTTAGTTTCGGGGAAAGAAAAAGGAAACTCTGTGTAGACTTTGATGATTGTCCTGTGCTTTCCTATGAAACTGCACAGACTTTTTAGATTTTTAGCTTTGGGTTTTTTTTTTTCCATAATCTAAAATTTCCACTTGAGGATAAGCCATCAGAAATAGACACTTACCTACACAGGAAGTCCCAGTTATATCTGGAGTGTACCCAGTTTTACAAATGCAATGATATGATCCTCTGTCATTGACACATTCCCCATTTCGGCAAACATCGTGAATAACCTTGCATTCATCGATATCTGTAATTTAACAAATATAAATTAA... | GAATTTTAGTTTCGGGGAAAGAAAAAGGAAACTCTGTGTAGACTTTGATGATTGTCCTGTGCTTTCCTATGAAACTGCACAGACTTTTTAGATTTTTAGCTTTGGGTTTTTTTTTTTCCATAATCTAAAATTTCCACTTGAGGATAAGCCATCAGAAATAGACACTTACCTACACAGGAAGTCCCAGTTATATCTGGAGTGTACCCAGTTTTACAAATGCAATGATATGATCCTCTGTCATTGACACATTCCCCATTTCGGCAAACATCGTGAATAACCTTGCATTCATCGATATCTGTAATTTAACAAATATAAATTAA... | pathogenic | 232,183 |
Gene FBN1 (fibrillin 1) variant at chromosome position 48427699 on chromosome 15: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_Syndrome/Loeys-Dietz_Syndrome/Familial_Thoracic_Aortic_Aneurysms_and_Dissections', 'Marfan_syndrome'] | GACTTTTTAGATTTTTAGCTTTGGGTTTTTTTTTTTCCATAATCTAAAATTTCCACTTGAGGATAAGCCATCAGAAATAGACACTTACCTACACAGGAAGTCCCAGTTATATCTGGAGTGTACCCAGTTTTACAAATGCAATGATATGATCCTCTGTCATTGACACATTCCCCATTTCGGCAAACATCGTGAATAACCTTGCATTCATCGATATCTGTAATTTAACAAATATAAATTAAGAAATATATCATAAAATTGACAACATTAATATGTAGGGGGTCACTTCAGTGTAAATACTAATAAATTGTGTTACTATATTT... | GACTTTTTAGATTTTTAGCTTTGGGTTTTTTTTTTTCCATAATCTAAAATTTCCACTTGAGGATAAGCCATCAGAAATAGACACTTACCTACACAGGAAGTCCCAGTTATATCTGGAGTGTACCCAGTTTTACAAATGCAATGATATGATCCTCTGTCATTGACACATTCCCCATTTCGGCAAACATCGTGAATAACCTTGCATTCATCGATATCTGTAATTTAACAAATATAAATTAAGAAATATATCATAAAATTGACAACATTAATATGTAGGGGGTCACTTCAGTGTAAATACTAATAAATTGTGTTACTATATTT... | pathogenic | 232,190 |
Evaluate this variant at chromosome 15, position 48427716, gene FBN1 (fibrillin 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome', 'likely other unspecified diseases'] | GCTTTGGGTTTTTTTTTTTCCATAATCTAAAATTTCCACTTGAGGATAAGCCATCAGAAATAGACACTTACCTACACAGGAAGTCCCAGTTATATCTGGAGTGTACCCAGTTTTACAAATGCAATGATATGATCCTCTGTCATTGACACATTCCCCATTTCGGCAAACATCGTGAATAACCTTGCATTCATCGATATCTGTAATTTAACAAATATAAATTAAGAAATATATCATAAAATTGACAACATTAATATGTAGGGGGTCACTTCAGTGTAAATACTAATAAATTGTGTTACTATATTTTGGGCCTAAGAAATTAA... | GCTTTGGGTTTTTTTTTTTCCATAATCTAAAATTTCCACTTGAGGATAAGCCATCAGAAATAGACACTTACCTACACAGGAAGTCCCAGTTATATCTGGAGTGTACCCAGTTTTACAAATGCAATGATATGATCCTCTGTCATTGACACATTCCCCATTTCGGCAAACATCGTGAATAACCTTGCATTCATCGATATCTGTAATTTAACAAATATAAATTAAGAAATATATCATAAAATTGACAACATTAATATGTAGGGGGTCACTTCAGTGTAAATACTAATAAATTGTGTTACTATATTTTGGGCCTAAGAAATTAA... | pathogenic | 232,192 |
Is the variant located on chromosome 15 at position 48427730, gene FBN1 (fibrillin 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Acute_aortic_dissection', 'Congenital_aneurysm_of_ascending_aorta', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_Syndrome/Loeys-Dietz_Syndrome/Familial_Thoracic_Aortic_Aneurysms_and_Dissections', 'Marfan_syndrome', 'Weill-Marchesani_syndrome_2,_dominant'] | TTTTTCCATAATCTAAAATTTCCACTTGAGGATAAGCCATCAGAAATAGACACTTACCTACACAGGAAGTCCCAGTTATATCTGGAGTGTACCCAGTTTTACAAATGCAATGATATGATCCTCTGTCATTGACACATTCCCCATTTCGGCAAACATCGTGAATAACCTTGCATTCATCGATATCTGTAATTTAACAAATATAAATTAAGAAATATATCATAAAATTGACAACATTAATATGTAGGGGGTCACTTCAGTGTAAATACTAATAAATTGTGTTACTATATTTTGGGCCTAAGAAATTAAACCAGTAAGATGAC... | TTTTTCCATAATCTAAAATTTCCACTTGAGGATAAGCCATCAGAAATAGACACTTACCTACACAGGAAGTCCCAGTTATATCTGGAGTGTACCCAGTTTTACAAATGCAATGATATGATCCTCTGTCATTGACACATTCCCCATTTCGGCAAACATCGTGAATAACCTTGCATTCATCGATATCTGTAATTTAACAAATATAAATTAAGAAATATATCATAAAATTGACAACATTAATATGTAGGGGGTCACTTCAGTGTAAATACTAATAAATTGTGTTACTATATTTTGGGCCTAAGAAATTAAACCAGTAAGATGAC... | pathogenic | 232,194 |
Is the genetic mutation found on chromosome 15 at position 48427805, within the gene FBN1 (fibrillin 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TTATATCTGGAGTGTACCCAGTTTTACAAATGCAATGATATGATCCTCTGTCATTGACACATTCCCCATTTCGGCAAACATCGTGAATAACCTTGCATTCATCGATATCTGTAATTTAACAAATATAAATTAAGAAATATATCATAAAATTGACAACATTAATATGTAGGGGGTCACTTCAGTGTAAATACTAATAAATTGTGTTACTATATTTTGGGCCTAAGAAATTAAACCAGTAAGATGACAGCATAAATTTAATATGTAACAGTAGCTATATCAAAAGGTAAACAAATAACTTCATTAGACTACAATTGATAAAA... | TTATATCTGGAGTGTACCCAGTTTTACAAATGCAATGATATGATCCTCTGTCATTGACACATTCCCCATTTCGGCAAACATCGTGAATAACCTTGCATTCATCGATATCTGTAATTTAACAAATATAAATTAAGAAATATATCATAAAATTGACAACATTAATATGTAGGGGGTCACTTCAGTGTAAATACTAATAAATTGTGTTACTATATTTTGGGCCTAAGAAATTAAACCAGTAAGATGACAGCATAAATTTAATATGTAACAGTAGCTATATCAAAAGGTAAACAAATAACTTCATTAGACTACAATTGATAAAA... | benign | 232,200 |
Clinically, how would you classify the variant at chromosome 15, position 48427812, gene FBN1 (fibrillin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TGGAGTGTACCCAGTTTTACAAATGCAATGATATGATCCTCTGTCATTGACACATTCCCCATTTCGGCAAACATCGTGAATAACCTTGCATTCATCGATATCTGTAATTTAACAAATATAAATTAAGAAATATATCATAAAATTGACAACATTAATATGTAGGGGGTCACTTCAGTGTAAATACTAATAAATTGTGTTACTATATTTTGGGCCTAAGAAATTAAACCAGTAAGATGACAGCATAAATTTAATATGTAACAGTAGCTATATCAAAAGGTAAACAAATAACTTCATTAGACTACAATTGATAAAATAATTCA... | TGGAGTGTACCCAGTTTTACAAATGCAATGATATGATCCTCTGTCATTGACACATTCCCCATTTCGGCAAACATCGTGAATAACCTTGCATTCATCGATATCTGTAATTTAACAAATATAAATTAAGAAATATATCATAAAATTGACAACATTAATATGTAGGGGGTCACTTCAGTGTAAATACTAATAAATTGTGTTACTATATTTTGGGCCTAAGAAATTAAACCAGTAAGATGACAGCATAAATTTAATATGTAACAGTAGCTATATCAAAAGGTAAACAAATAACTTCATTAGACTACAATTGATAAAATAATTCA... | benign | 232,201 |
Variant in gene FBN1 (fibrillin 1), located at chromosome 15 position 48428379: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TATTTTTGTTGTCTTTGTGGTTAATCCTGAAAAAGTTCAAATTACATAATATTGGGGAAATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAA... | TATTTTTGTTGTCTTTGTGGTTAATCCTGAAAAAGTTCAAATTACATAATATTGGGGAAATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAA... | pathogenic | 232,212 |
A genetic alteration at chromosome 15, position 48428399, in gene FBN1 (fibrillin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_Syndrome/Loeys-Dietz_Syndrome/Familial_Thoracic_Aortic_Aneurysms_and_Dissections', 'Marfan_syndrome'] | TTAATCCTGAAAAAGTTCAAATTACATAATATTGGGGAAATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCAACA... | TTAATCCTGAAAAAGTTCAAATTACATAATATTGGGGAAATGAGATGAACTTCTGTCCTCTGGTGAGGGGGGAAACTAACCAGGGCTCTGAGGTGGATGACAGTGCTGGGTTTTTGCAGCCTGCTAAGGAAGGGAGACCCTCACTCATGGCTGTACCACAGAGAGAAAGACTGGGTCAATATGCACTGTTGAGCATTAAAACCACTGTCTTCCACATCTTGACCCATTTTACCTCCTTACTGCTTGGCGAAGTGCCGATACAAGCACTTTCTACATGGGTTCTCAGCCCTTGACTGCCAAATAACCATTTTATACCAACA... | pathogenic | 232,216 |
Does the variant on chromosome 15 at location 48430767 affecting gene FBN1 (fibrillin 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATATGTGTATGTGTGTGTGCACTTCAGA... | TCAATTCATTCTTAACTGTTTGGTTTCATTGAAAGACTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATATGTGTATGTGTGTGTGCACTTCAGA... | pathogenic | 232,242 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 15, position 48430803, gene FBN1 (fibrillin 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | CTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATATGTGTATGTGTGTGTGCACTTCAGATCTTTTAAAAGCCTAACTGATAGCATTTTATATACT... | CTGAAAACAGAAAGAGCCATCTGAATCTTTTATAGAAGAATAGATTTTCTTCTTTCCTATATAGTTTGTAAATAGCTTATCTCTTCACATGGTTCAAAATTAAAAAGGTACAAAAGGAGATTCAGCAAAAGTACCCCCTTCATTTCCTATTTCCCAGACACCAAACTCCCCTCCTGAAAAGCAACCAATTCTGGGGCCGATTTCTAATGTATCCTTCCAGAGCTGGATTATGCATATAAAAGCAAATACATACATAATATGTGTATGTGTGTGTGCACTTCAGATCTTTTAAAAGCCTAACTGATAGCATTTTATATACT... | pathogenic | 232,252 |
Is the variant located on chromosome 15 at position 48432922, gene FBN1 (fibrillin 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection'] | ACATAAAATGTTAGTAAGTAACCAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCTCTGCCTCCCGGG... | ACATAAAATGTTAGTAAGTAACCAATTTTCATCTGTTATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCTCTGCCTCCCGGG... | pathogenic | 232,264 |
Clinically, how would you classify the variant at chromosome 15, position 48432959, gene FBN1 (fibrillin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | ATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCATACCTCAGTCTCCCAAGTATCT... | ATTTCACTACTGGCTGTATTTCCTTCTGCTCTGTTGAGTATGATCTCTAAAGAATGGAAAGGAATCTTCTAACCACCTTTGAACTTGAAGAAATTGCTCCCTAATCAACTGATGACCTCTTCAAGAAGCATGATTCTGATCATGCCTTTTCTCTCTTCTCCTTCCCTTATTTTTTATTTATTTTTATTTTTATTTATTTATGTTTTTGAAAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTTCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCATACCTCAGTCTCCCAAGTATCT... | pathogenic | 232,272 |
Is the genetic variant on chromosome 15, position 48434599, gene FBN1 (fibrillin 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TTCATATTGGGTTTTTTGAACGTGGGGAAATGTCTTTTTCTTTCTATTCCCATATCTTGTAGAAATACTGGCGTGTTGTGAGCATGCGATGCACAGTGAGACCTAATAAAGGATGTGCAGTGCAGTCCTCAACTTGGCTTGATGATGCTTCCAGCTACAATTTAGGGGGAAACGTGGCAGTGACAACCCCCGTATTGTCCACGGACTATTTATATTCCAATTCCCAGCCTTCTCCTACTAAGGGAAGCTTTGAGGGACATCTCCCCTCACAGATAAAGCTTCCTGGCTTAGATGACCTTGAACACGATGACTCACCTTTG... | TTCATATTGGGTTTTTTGAACGTGGGGAAATGTCTTTTTCTTTCTATTCCCATATCTTGTAGAAATACTGGCGTGTTGTGAGCATGCGATGCACAGTGAGACCTAATAAAGGATGTGCAGTGCAGTCCTCAACTTGGCTTGATGATGCTTCCAGCTACAATTTAGGGGGAAACGTGGCAGTGACAACCCCCGTATTGTCCACGGACTATTTATATTCCAATTCCCAGCCTTCTCCTACTAAGGGAAGCTTTGAGGGACATCTCCCCTCACAGATAAAGCTTCCTGGCTTAGATGACCTTGAACACGATGACTCACCTTTG... | pathogenic | 232,285 |
Is chromosome 15, position 48434694, gene FBN1 (fibrillin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | GTGAGACCTAATAAAGGATGTGCAGTGCAGTCCTCAACTTGGCTTGATGATGCTTCCAGCTACAATTTAGGGGGAAACGTGGCAGTGACAACCCCCGTATTGTCCACGGACTATTTATATTCCAATTCCCAGCCTTCTCCTACTAAGGGAAGCTTTGAGGGACATCTCCCCTCACAGATAAAGCTTCCTGGCTTAGATGACCTTGAACACGATGACTCACCTTTGCACATCCTACGGTCTTCTCTGAGCACATATCCCACGGGACATTTGCATTCATATGACCCATAAGTGTTCACACATCGGAAGGCACAGAGCAGAGG... | GTGAGACCTAATAAAGGATGTGCAGTGCAGTCCTCAACTTGGCTTGATGATGCTTCCAGCTACAATTTAGGGGGAAACGTGGCAGTGACAACCCCCGTATTGTCCACGGACTATTTATATTCCAATTCCCAGCCTTCTCCTACTAAGGGAAGCTTTGAGGGACATCTCCCCTCACAGATAAAGCTTCCTGGCTTAGATGACCTTGAACACGATGACTCACCTTTGCACATCCTACGGTCTTCTCTGAGCACATATCCCACGGGACATTTGCATTCATATGACCCATAAGTGTTCACACATCGGAAGGCACAGAGCAGAGG... | pathogenic | 232,292 |
Variant chromosome 15, position 48437089, gene FBN1 (fibrillin 1): benign or pathogenic? Disease(s)? | benign | CCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTCCCACATTATAAACTAAATCTTCTACTTGGAGTAGATGCTCTAAGGGTTAAAAAAAAAAAGGCCCCTATCACTCGTCAAAAGTTT... | CCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTCCCACATTATAAACTAAATCTTCTACTTGGAGTAGATGCTCTAAGGGTTAAAAAAAAAAAGGCCCCTATCACTCGTCAAAAGTTT... | benign | 232,325 |
Variant in FBN1 (fibrillin 1), chromosome 15, position 48437089—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | CCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTCCCACATTATAAACTAAATCTTCTACTTGGAGTAGATGCTCTAAGGGTTAAAAAAAAAAAGGCCCCTATCACTCGTCAAAAGTTT... | CCCACCTCGGCATCCCAAAGTGCTGAGATTAAAGGTGTGAGCCACCAAGCCCAGCCTGATCTGTAATGTTTAATTCTCATTCTGTTCTTGCAAAAAGGGAGTGTGCATGTCTTATTATCTCAGGTTTATAGCCGTGAAATTCGACTTGCTCAGTGGCAGTGGCAATGACAGTGAGAATGACAGTGCCTGGACATATAGCCCTTACAGTGCTCTTCTCCATGAGTTTCTCCAGCCTCCCACATTATAAACTAAATCTTCTACTTGGAGTAGATGCTCTAAGGGTTAAAAAAAAAAAGGCCCCTATCACTCGTCAAAAGTTT... | benign | 232,326 |
Assess the variant on chromosome 15, position 48441744, impacting FBN1 (fibrillin 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TTTAATAGCTGACTTCGTCCCAGACCCCAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCTTACAAGAAAAACCCAGCT... | TTTAATAGCTGACTTCGTCCCAGACCCCAGCTCTATCTCCCCCACACCACTCCACCCCGAAAAAAAAAAATCTTGGCATTAGACAGAGACTCAAATGCACGAAGTCTTGAGTCAGTCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCTTACAAGAAAAACCCAGCT... | pathogenic | 232,375 |
For chromosome 15, position 48441859, gene FBN1 (fibrillin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCTTACAAGAAAAACCCAGCTCTCAATTTCCTGGCTCCAGCAAAATCTGTGCTCTGTAGGAGACTTACTTTAGCTTGTGGTGATTCTCTAGAATTGGCTTATTAATCAAGGGTGTCTTGCATTGGGGAAGAGAGCT... | TCTAAGTGGCAAATTCTCTTCGTTGAACTTTGCAAGTGGGAGTGGCTCATTTACACCTGTGGTCTTTTGTGCCAGGCTCTGTCCACCTGAGTCCCATGGCATTCGCTTTTTAAAAAACATTATCCACGGTTCTGTGGAATTTTCTCATTTCATGAGCAATAGAAGTCTGACTCCTAATTTGTCATCTTACAAGAAAAACCCAGCTCTCAATTTCCTGGCTCCAGCAAAATCTGTGCTCTGTAGGAGACTTACTTTAGCTTGTGGTGATTCTCTAGAATTGGCTTATTAATCAAGGGTGTCTTGCATTGGGGAAGAGAGCT... | benign | 232,396 |
Is the variant located on chromosome 15 at position 48444516, gene FBN1 (fibrillin 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | ACCTTTCTTGTACAGGCTTTTTCTTTCATCATATAGACAATAGGAAACTGTACACTTAGAATTGTGGCATGTTTTCTTTAGTATATTATACATCTTAGCTCCTGTACAGTGGTAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATC... | ACCTTTCTTGTACAGGCTTTTTCTTTCATCATATAGACAATAGGAAACTGTACACTTAGAATTGTGGCATGTTTTCTTTAGTATATTATACATCTTAGCTCCTGTACAGTGGTAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATC... | pathogenic | 232,400 |
A genetic alteration at chromosome 15, position 48444564, in gene FBN1 (fibrillin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TGTACACTTAGAATTGTGGCATGTTTTCTTTAGTATATTATACATCTTAGCTCCTGTACAGTGGTAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGT... | TGTACACTTAGAATTGTGGCATGTTTTCTTTAGTATATTATACATCTTAGCTCCTGTACAGTGGTAGTTAAGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGT... | pathogenic | 232,404 |
Clinically, how would you classify the variant at chromosome 15, position 48444634, gene FBN1 (fibrillin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_Syndrome/Loeys-Dietz_Syndrome/Familial_Thoracic_Aortic_Aneurysms_and_Dissections', 'Marfan_syndrome'] | AGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTACTTTTATGAGAATACTTTTTTATTTTTTCAACAAAACACAAAATATCCTT... | AGAGTAGCCAATAAGAAGTTTGAATGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTACTTTTATGAGAATACTTTTTTATTTTTTCAACAAAACACAAAATATCCTT... | pathogenic | 232,415 |
A mutation at chromosome position 48444658 on chromosome 15 in gene FBN1 (fibrillin 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Isolated_thoracic_aortic_aneurysm', 'Marfan_syndrome'] | TGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTACTTTTATGAGAATACTTTTTTATTTTTTCAACAAAACACAAAATATCCTTGTATCCTGGGCTCTTTATTTTTAT... | TGGCTTGAGTAACCATATGTCCTAGTTTGCCTGGGGGAGCCCCAGCTCATGCCAGTTGGCCTGACTTTATTGTTAATAGTGCCCTTTTCTACTTTCAAAATTGGCTTGGGTTGGTCAATAAAACATACGATTACCTATGGAAAAATATGCCCACTCTATTCCAACAAACTCACTTATCTTTCCTCCTGACTTTCAGCAGGAATTTTTAGTGAACAAAGTGGTAAGTCTTAATTCTGAGCCATGCTACTTTTATGAGAATACTTTTTTATTTTTTCAACAAAACACAAAATATCCTTGTATCCTGGGCTCTTTATTTTTAT... | pathogenic | 232,418 |
Is the genetic change at chromosome 15, position 48445387, within gene FBN1 (fibrillin 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Marfan_syndrome'] | GGTAGAAATTAGCCTGTACATGCCAACTTATTAGGATAGGGCCAAATATTGTAGAATGGGCACATTCATTGACTGTGCAGTTATTTTTCTTTCTATATATATTCTGTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCT... | GGTAGAAATTAGCCTGTACATGCCAACTTATTAGGATAGGGCCAAATATTGTAGAATGGGCACATTCATTGACTGTGCAGTTATTTTTCTTTCTATATATATTCTGTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCT... | pathogenic | 232,425 |
Clinical classification of chromosome 15, position 48445468, gene FBN1 (fibrillin 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TATTTTTCTTTCTATATATATTCTGTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAATTCTAGCAATTAAT... | TATTTTTCTTTCTATATATATTCTGTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAATTCTAGCAATTAAT... | pathogenic | 232,439 |
A genetic variant at chromosome 15, position 48445475, affecting gene FBN1 (fibrillin 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | CTTTCTATATATATTCTGTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAATTCTAGCAATTAATGTCCTTC... | CTTTCTATATATATTCTGTTCAATTTAGCGAACTTATGTATTGATAATAAAGCCAATTTTTAATAAAAGTAAAATAACATGCTTAAAAAATTTGCATCTAGACAATTTCAATAAGGTGTTTCCATTTTAAATATCACCACTTGATTGTTACTTAAATTGGATATATAATAAAATTTCTAATTGACGATATTAAAAGTAGAGAAAATTCTCATTGTGGATTAGATGCAGACCTGTTTAAAGTCAGGGGTGTGAACTAGGTGACTTCTTGAAAATCCTTTCAACCCTACTTATTTATGAAATTCTAGCAATTAATGTCCTTC... | pathogenic | 232,441 |
Clinical classification of chromosome 15, position 48446691, gene FBN1 (fibrillin 1): benign or pathogenic? Disease(s) if pathogenic? | benign | GAAGACATTCATTGATATCTGCAAAGAAAAGGGAAAAATAAGGAAGAGGTTCCCACTGGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCT... | GAAGACATTCATTGATATCTGCAAAGAAAAGGGAAAAATAAGGAAGAGGTTCCCACTGGCATGACTTCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCT... | benign | 232,449 |
Chromosome 15, position 48446757, gene FBN1 (fibrillin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Marfan_syndrome'] | TCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAAGAAAAATATTTAAGAAGGGAAATCACAATTGCTTACAGAGCAATTT... | TCCATCAAACAATTAAAATTCAAAAAAACTAGAATGAATCAAAGAAATACATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAAGAAAAATATTTAAGAAGGGAAATCACAATTGCTTACAGAGCAATTT... | pathogenic | 232,459 |
Evaluate the clinical significance of the mutation at chromosome 15, position 48446807 in gene FBN1 (fibrillin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | ATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAAGAAAAATATTTAAGAAGGGAAATCACAATTGCTTACAGAGCAATTTAGCAATTTCACTGTTTAATAGTTTGAGTATTCTTGGTGAGTACAATAGCT... | ATAAAGCAAATTAAAGTTCATAAAATTCCACCATGGAGAAAAATAAGCAATAATAAAAATAAGCTTTATCAGCTTTCAAAAATGTATAGCATAACAACCATATTTTATTTTACCTGCATCAAATTAAATGTTTCCAGAAAATTGTAGCATGTGAAAAGTCAGTGAGTATATAGATTTTAAGGATACTCAAAAGATATGAGAGCTTACTACAAAAGTATTTTAAAGAAAAATATTTAAGAAGGGAAATCACAATTGCTTACAGAGCAATTTAGCAATTTCACTGTTTAATAGTTTGAGTATTCTTGGTGAGTACAATAGCT... | pathogenic | 232,466 |
A genetic alteration at chromosome 15, position 48448739, in gene FBN1 (fibrillin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | ATTTTGCACACGCACCTATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAGGCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATC... | ATTTTGCACACGCACCTATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAGGCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATC... | benign | 232,472 |
Chromosome 15, position 48448754, gene FBN1 (fibrillin 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CTATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAGGCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGT... | CTATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAGGCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGT... | benign | 232,473 |
For chromosome 15, position 48448844, gene FBN1 (fibrillin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | AGGCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCAC... | AGGCATCTCTTTCACATTCATTTATGTCTAGTAGGAAGAAAGGCCATAAAGAAACATAATTATAAGTAGAAAAAGTGGTTACACGGTTACAGTGGCTAAAGAGCATTTTAGGGTTCACCAGGCCTCATCCATAGGCTGAGAACTTCTTGATGTTGGTATCAGCTCCAGCAGCAGTCATCCCTGCAAGATACCAGGCAGCGGCAAAGCTCTAAATCTTGGGAATAAATGGTTTCCTTGGCTGGCCAGTGAAAGGAGGCAAGCTAAGGACATGAGACCTGAACAAGAATTATTTTATTCTATTTACTTCTAGAATTCTCCAC... | pathogenic | 232,480 |
Determine if the mutation at chromosome 15, position 48452547 in gene FBN1 (fibrillin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TTGGGATAGGAGGTCTGAACAGGCTACTGTGGAAAGAAACCCAAATAGTCAACAGAGAAAGAGAGGAAACCACAAGGAAGTAGCTGGGAAGAAACTGTTCCTTGTCTTTTGTGGGGCAAGACATTTCAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTAT... | TTGGGATAGGAGGTCTGAACAGGCTACTGTGGAAAGAAACCCAAATAGTCAACAGAGAAAGAGAGGAAACCACAAGGAAGTAGCTGGGAAGAAACTGTTCCTTGTCTTTTGTGGGGCAAGACATTTCAGAAGGGGGTTGCATTTGTTCTAACTATCCAGCTTCTGCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTAT... | benign | 232,488 |
Is the genetic variant on chromosome 15, position 48452711, gene FBN1 (fibrillin 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAATGCCAAGTATAGAATAGCATTTAAAGATATTTTAAAAGTAAGACATAAATAAAGACATTTCTAGAATGAGGTCTTCAACCCAACAGGCTGAATGGTTGCAAAACTCAA... | GCTGTCAGACTAGCATCCTGAGCTCAGATATCTAATTATTCTCTCAGCTCTCTCAGCAATAATGTGGGTGCTATGGCCAGGTGTGATTTGGGATTTGAAATAATGTGCTTATGAATTCAAATAAGGATCTCATGATGGAGAGAAAGTTTTAGTTATTTTCATTTTAAACAGATGCACAAAGGAGTACTTTGCAGCATGCCTGAAAAAAAAAATGCCAAGTATAGAATAGCATTTAAAGATATTTTAAAAGTAAGACATAAATAAAGACATTTCTAGAATGAGGTCTTCAACCCAACAGGCTGAATGGTTGCAAAACTCAA... | benign | 232,513 |
Regarding the variant found on chromosome 15 at position 48460296 in gene FBN1 (fibrillin 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | AATTTTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATTCAGATGCCATTCATTCAGTGTGGGTTAGAACACGAAAC... | AATTTTAGAAGAACCACACTCTATAACCAATCTGTTTTAAAGGAGAAATTTGATGTCATAGATTTATTTTAGACCCTTTTTAAAAAAGGGCTTGATTTTGTGTGAAGGCAAAATTGACCTATTTAATGAAAAGAAACAGCTTAGAATCTCAAAGGGTTCATTGCTATTTTGAATACACGCAATTATGTCTTTAGATCTTTCACACCTTTGTCATTCATGTCATGAAAATGCCATATAAAGTTACATCACAACTGTGTATCATAAGTAAACAAAAAACAAATTCAGATGCCATTCATTCAGTGTGGGTTAGAACACGAAAC... | pathogenic | 232,549 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 15, position 48463102, gene FBN1 (fibrillin 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TCACGCTCAGTGAAAATCAGTAAAAGATTTCTGGAAGTATTTTAATCAAAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCC... | TCACGCTCAGTGAAAATCAGTAAAAGATTTCTGGAAGTATTTTAATCAAAATACAGCATGTTATTCTCCTTGTGTTTTGTCTCCTTAATCTATGAGTGTTCACTTCCAACACTGTAACGCCAGCTGACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCC... | pathogenic | 232,555 |
Is chromosome 15, position 48463227, gene FBN1 (fibrillin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | GACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGTGTACACTTTATATTAGA... | GACATTGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGTGTACACTTTATATTAGA... | pathogenic | 232,571 |
Is chromosome 15, position 48463232, gene FBN1 (fibrillin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiovascular_phenotype'] | TGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGTGTACACTTTATATTAGAACAGC... | TGGTCACCTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGTGTACACTTTATATTAGAACAGC... | pathogenic | 232,573 |
Gene FBN1 (fibrillin 1) variant at chromosome 15, position 48463239—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Marfan_syndrome'] | CTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGTGTACACTTTATATTAGAACAGCTCAGAAA... | CTAAAGAAATTACAGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGTGTACACTTTATATTAGAACAGCTCAGAAA... | pathogenic | 232,574 |
A genetic variant on chromosome 15, position 48463252, affects the gene FBN1 (fibrillin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | AGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGTGTACACTTTATATTAGAACAGCTCAGAAAAATAATAAATGTA... | AGGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGTGTACACTTTATATTAGAACAGCTCAGAAAAATAATAAATGTA... | benign | 232,578 |
Variant in FBN1 (fibrillin 1), chromosome 15, position 48463253—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGTGTACACTTTATATTAGAACAGCTCAGAAAAATAATAAATGTAT... | GGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGTGTACACTTTATATTAGAACAGCTCAGAAAAATAATAAATGTAT... | benign | 232,581 |
Regarding the variant at chromosome 15 and position 48463253, affecting gene FBN1 (fibrillin 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGTGTACACTTTATATTAGAACAGCTCAGAAAAATAATAAATGTAT... | GGGACTCTTAAAATATGTGCAGATTTCACAGCTAATGAAAAGCCATGACTGAATTTGGTGAATATCCAACATCAAGAAGAAATCTTGCATTTTACACAAGAGTATGTAGATATTCAAAACTCAGGCAATCATTTCTAAAAGTAAATGTTAGTCTACATTAAGGGTTTCCAAAGTGGTCTCCAGAGGAATATGCAATAATCCATTAGGATAAAAAAGAAAATGCGAGGACTTCTATCTATCTTTGGAAAAATCTAATCTTTAAAAAAATTAATTTTGTGTACACTTTATATTAGAACAGCTCAGAAAAATAATAAATGTAT... | benign | 232,582 |
Is the genetic change at chromosome 15, position 48463896, within gene FBN1 (fibrillin 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | GTTCATGTAACTTTCATATTATGAAATACGATTCTCCTGATTTTTTCCAACCATTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTG... | GTTCATGTAACTTTCATATTATGAAATACGATTCTCCTGATTTTTTCCAACCATTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTG... | pathogenic | 232,587 |
Variant on chromosome 15, at position 48463947, affecting FBN1 (fibrillin 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | CATTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCAT... | CATTTAAAATGTAGAAATCCTTCTTAGCTTGCAGGCCATTCAAAAGTAGATGGTGGGACAGATTTGGCCCATGGGGTGTATTTTGCCAAGCCCTGGTCTAGAAACATTTTGCAGGGTGGAGGTAAATCAGAATTCTAAGTGGTGGTTATTATATTATTTCTGGAGTAAACAATGGATGGAATAATACATTTTACTAAAAAACAATTTTCTGTTGCATGCAATGTCAGGTAGTACCAAACAACAGATTTAATATTTTATATATCACTGTGGAAAATGGTGTAGGATTCCCTTTATAGAATACCCTAATCAATTCCTTGCAT... | pathogenic | 232,594 |
Evaluate if the mutation on chromosome 15 at position 48465792 in FBN1 (fibrillin 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | TGATTTATAGGGGAAGAGTCTCCTAACAAGACAGTGAAGGGATGCCAGCACTCAGTCTGATGAGTAACATCACCCTAAGGTGATGAACTTGTGAGCTCTCTTCCTCTTTGTAGATGAGAACCAAACATGCATTACTGAGAAAAGCTTGGACTTACCCATGCAATTATTTCCCCCATTCACTTGCATGTAGTCTGGAGGACAGATACAGGTGTAGTTGCCAACGGTGTTGTAACATGTCCCTGGACCACAGATTCCAGGAGTCTCACATTCATTCACATCTATAATCCAAAGAGAAAGTGGTATGTGAATATGAAAACTTC... | TGATTTATAGGGGAAGAGTCTCCTAACAAGACAGTGAAGGGATGCCAGCACTCAGTCTGATGAGTAACATCACCCTAAGGTGATGAACTTGTGAGCTCTCTTCCTCTTTGTAGATGAGAACCAAACATGCATTACTGAGAAAAGCTTGGACTTACCCATGCAATTATTTCCCCCATTCACTTGCATGTAGTCTGGAGGACAGATACAGGTGTAGTTGCCAACGGTGTTGTAACATGTCCCTGGACCACAGATTCCAGGAGTCTCACATTCATTCACATCTATAATCCAAAGAGAAAGTGGTATGTGAATATGAAAACTTC... | pathogenic | 232,629 |
Evaluate this variant at chromosome 15, position 48465824, gene FBN1 (fibrillin 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Marfan_syndrome'] | AGTGAAGGGATGCCAGCACTCAGTCTGATGAGTAACATCACCCTAAGGTGATGAACTTGTGAGCTCTCTTCCTCTTTGTAGATGAGAACCAAACATGCATTACTGAGAAAAGCTTGGACTTACCCATGCAATTATTTCCCCCATTCACTTGCATGTAGTCTGGAGGACAGATACAGGTGTAGTTGCCAACGGTGTTGTAACATGTCCCTGGACCACAGATTCCAGGAGTCTCACATTCATTCACATCTATAATCCAAAGAGAAAGTGGTATGTGAATATGAAAACTTCACATTTTGGAATGGCCTGATACTTAATGAATG... | AGTGAAGGGATGCCAGCACTCAGTCTGATGAGTAACATCACCCTAAGGTGATGAACTTGTGAGCTCTCTTCCTCTTTGTAGATGAGAACCAAACATGCATTACTGAGAAAAGCTTGGACTTACCCATGCAATTATTTCCCCCATTCACTTGCATGTAGTCTGGAGGACAGATACAGGTGTAGTTGCCAACGGTGTTGTAACATGTCCCTGGACCACAGATTCCAGGAGTCTCACATTCATTCACATCTATAATCCAAAGAGAAAGTGGTATGTGAATATGAAAACTTCACATTTTGGAATGGCCTGATACTTAATGAATG... | pathogenic | 232,633 |
Evaluate the clinical significance of the mutation at chromosome 15, position 48467984 in gene FBN1 (fibrillin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | CATATCCAACTGAAAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCTTAATAATCT... | CATATCCAACTGAAAATGTTCATTTTCAGGAATCTTTAGTTGTTACTCTGCCCGTCTGAAGTAAGTTAACACCTTTGTGTACACTTCCCATTTTCCAGTGGTTTTTATTATGTGTCCCCAGTGCAAGGCCACTGTCCTCAGTCCTTGAACTCTAACCACTCCCTGGTCTTACATGTGTGTGGACTGTTTTATACCTTACCTTCATCCCTTATTTCTTTTTACAGATTTTCTTTCCCTTTTTATTTTCTGAAAAACTTCATCTTCATTTTTATGTTCTGTTCAGCCTACTTTCTGGGAACTACAGCTTCCCTTAATAATCT... | pathogenic | 232,646 |
Classify the chromosome 15 variant at position 48468431 affecting gene FBN1 (fibrillin 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_Syndrome/Loeys-Dietz_Syndrome/Familial_Thoracic_Aortic_Aneurysms_and_Dissections'] | AATATTGATTCTCTTGGTTTCCAAAAACAACTTTCTATAGTGTCCTTGGGTTTCCCCCATTAATTCTTTCATCCAAGTATTTTACCCAGAAACATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTG... | AATATTGATTCTCTTGGTTTCCAAAAACAACTTTCTATAGTGTCCTTGGGTTTCCCCCATTAATTCTTTCATCCAAGTATTTTACCCAGAAACATTTATTTCAGTGGTATGCACCAGGACGGTGATATGTACAGGACATGTGAATAAGAATGTCTGTAACCTGCTGCATCATCCCAGTGAGGAGCTATAAGATCAGTTCTTTCATAATGTCATGGTCTGTCCAGATCTGCTAATCCCTGTCCTGGCTCCCTGAAATTATATGTACACATGCCTATATGTATATATTCCAGTTCTAACTCTGGTCCAGATCTGGTGTGGTG... | pathogenic | 232,673 |
Does the genetic variant at chromosome 15, position 48470677, impacting gene FBN1 (fibrillin 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_syndrome'] | AGAATTTTAAAGCTACTAGTTATAACTACATCTAGAAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAG... | AGAATTTTAAAGCTACTAGTTATAACTACATCTAGAAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAG... | pathogenic | 232,703 |
Clinical significance of chromosome 15, position 48470683, gene FBN1 (fibrillin 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Marfan_syndrome'] | TTAAAGCTACTAGTTATAACTACATCTAGAAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAG... | TTAAAGCTACTAGTTATAACTACATCTAGAAATGCAGTCTTCCACTTCAGAGATAAAACACCTCAGGAAGGAAATATGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAG... | pathogenic | 232,706 |
Chromosome 15, position 48470759, gene FBN1 (fibrillin 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATGGTACCACT... | TGATATAGTCTTTGGTGGTCTTTCCCCAGAACACATTTACCATTCAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATGGTACCACT... | benign | 232,721 |
Variant on chromosome 15, at position 48470803, affecting FBN1 (fibrillin 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATGGTACCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA... | CAAATTTGTCATCAGGATAAAATATAACTTTGGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATGGTACCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA... | benign | 232,726 |
Considering the genetic mutation at chromosome 15, position 48472575, impacting FBN1: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_Syndrome/Loeys-Dietz_Syndrome/Familial_Thoracic_Aortic_Aneurysms_and_Dissections', 'Marfan_syndrome'] | GCTTTTCTTGTCTTCTGTGACGGCCCTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATAC... | GCTTTTCTTGTCTTCTGTGACGGCCCTTGTGTAGTCCCAGGGAGGCTCCAATAGCTGGGTCCCCCGGGACACCAGGGAGCTGATTTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATAC... | pathogenic | 232,733 |
Chromosome 15, position 48472659, gene FBN1: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Marfan_Syndrome/Loeys-Dietz_Syndrome/Familial_Thoracic_Aortic_Aneurysms_and_Dissections', 'Marfan_syndrome'] | TTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACCAATCTGGGCACTTCTCCTATAGACTTTTAGATGATTTGCCATGCACAGTGAAGTCTCG... | TTTGATGCCAGTGGAGGTCTTACCTGTGCAGTTCCCGCCGCTTCTGTCCAGTTCGTAGCCTATCTCACACTCACAGCGGAACAGGCCAGGGAGGTTGTGGCAAGTTCCAAAGACACAGATGTTCGGAAGGGAGCACTCATCAATATCTTGGGGGGAGGGAGAAAAAAGCAAAAAACTTAACTTATATTTTTCTAAAAAAAACCTGCCAAATATAATTAGGCAACTAATGTAAATACTAAGAAAATGCAGAGTATCTAACACCAATCTGGGCACTTCTCCTATAGACTTTTAGATGATTTGCCATGCACAGTGAAGTCTCG... | pathogenic | 232,749 |
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