question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Does the variant impacting XPA (XPA, DNA damage recognition and repair factor) on chromosome 9, position 97675486, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Xeroderma_pigmentosum_group_A'] | TTCTAGAGAAATTTGTAGGTTTTAATTTCTTTTCTCTTGGTCCTCTCTTCATGTATAATGGTTGCTTTTAACAGCTGTTCGCTGATGTGGTCCTGCTCTGTCCCAGTCTAGCAGCTTTAGTGTATGGAAAAATTGAACTAGGAATTGAGTTTTGAAGAAATAAAGGTGTAAGAGCAAACATTCAACAGTTGCTGTCCCCAGTAATGAAGTTCATACAGACAAAAGATGGCATGTCACTGTACATCATACCTTGCAATAAATATTCTGTTAAATTGTGCTGGTGCAATTTAACATGCTTTTGTCAAAGTAAACATACTGTT... | TTCTAGAGAAATTTGTAGGTTTTAATTTCTTTTCTCTTGGTCCTCTCTTCATGTATAATGGTTGCTTTTAACAGCTGTTCGCTGATGTGGTCCTGCTCTGTCCCAGTCTAGCAGCTTTAGTGTATGGAAAAATTGAACTAGGAATTGAGTTTTGAAGAAATAAAGGTGTAAGAGCAAACATTCAACAGTTGCTGTCCCCAGTAATGAAGTTCATACAGACAAAAGATGGCATGTCACTGTACATCATACCTTGCAATAAATATTCTGTTAAATTGTGCTGGTGCAATTTAACATGCTTTTGTCAAAGTAAACATACTGTT... | pathogenic | 147,489 |
Chromosome 9, position 97675501, gene XPA (XPA, DNA damage recognition and repair factor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Xeroderma_pigmentosum', 'Xeroderma_pigmentosum_group_A'] | TAGGTTTTAATTTCTTTTCTCTTGGTCCTCTCTTCATGTATAATGGTTGCTTTTAACAGCTGTTCGCTGATGTGGTCCTGCTCTGTCCCAGTCTAGCAGCTTTAGTGTATGGAAAAATTGAACTAGGAATTGAGTTTTGAAGAAATAAAGGTGTAAGAGCAAACATTCAACAGTTGCTGTCCCCAGTAATGAAGTTCATACAGACAAAAGATGGCATGTCACTGTACATCATACCTTGCAATAAATATTCTGTTAAATTGTGCTGGTGCAATTTAACATGCTTTTGTCAAAGTAAACATACTGTTTTCCTAATTTATAAC... | TAGGTTTTAATTTCTTTTCTCTTGGTCCTCTCTTCATGTATAATGGTTGCTTTTAACAGCTGTTCGCTGATGTGGTCCTGCTCTGTCCCAGTCTAGCAGCTTTAGTGTATGGAAAAATTGAACTAGGAATTGAGTTTTGAAGAAATAAAGGTGTAAGAGCAAACATTCAACAGTTGCTGTCCCCAGTAATGAAGTTCATACAGACAAAAGATGGCATGTCACTGTACATCATACCTTGCAATAAATATTCTGTTAAATTGTGCTGGTGCAATTTAACATGCTTTTGTCAAAGTAAACATACTGTTTTCCTAATTTATAAC... | pathogenic | 147,491 |
Does the variant on chromosome 9 at location 97675528 affecting gene XPA (XPA, DNA damage recognition and repair factor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Xeroderma_pigmentosum_group_A'] | CTCTCTTCATGTATAATGGTTGCTTTTAACAGCTGTTCGCTGATGTGGTCCTGCTCTGTCCCAGTCTAGCAGCTTTAGTGTATGGAAAAATTGAACTAGGAATTGAGTTTTGAAGAAATAAAGGTGTAAGAGCAAACATTCAACAGTTGCTGTCCCCAGTAATGAAGTTCATACAGACAAAAGATGGCATGTCACTGTACATCATACCTTGCAATAAATATTCTGTTAAATTGTGCTGGTGCAATTTAACATGCTTTTGTCAAAGTAAACATACTGTTTTCCTAATTTATAACTGTACTTGAAAATGAAAGATGAGGAAG... | CTCTCTTCATGTATAATGGTTGCTTTTAACAGCTGTTCGCTGATGTGGTCCTGCTCTGTCCCAGTCTAGCAGCTTTAGTGTATGGAAAAATTGAACTAGGAATTGAGTTTTGAAGAAATAAAGGTGTAAGAGCAAACATTCAACAGTTGCTGTCCCCAGTAATGAAGTTCATACAGACAAAAGATGGCATGTCACTGTACATCATACCTTGCAATAAATATTCTGTTAAATTGTGCTGGTGCAATTTAACATGCTTTTGTCAAAGTAAACATACTGTTTTCCTAATTTATAACTGTACTTGAAAATGAAAGATGAGGAAG... | pathogenic | 147,493 |
Determine if the mutation at chromosome 9, position 97675543 in gene XPA (XPA, DNA damage recognition and repair factor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Xeroderma_pigmentosum_group_A'] | ATGGTTGCTTTTAACAGCTGTTCGCTGATGTGGTCCTGCTCTGTCCCAGTCTAGCAGCTTTAGTGTATGGAAAAATTGAACTAGGAATTGAGTTTTGAAGAAATAAAGGTGTAAGAGCAAACATTCAACAGTTGCTGTCCCCAGTAATGAAGTTCATACAGACAAAAGATGGCATGTCACTGTACATCATACCTTGCAATAAATATTCTGTTAAATTGTGCTGGTGCAATTTAACATGCTTTTGTCAAAGTAAACATACTGTTTTCCTAATTTATAACTGTACTTGAAAATGAAAGATGAGGAAGGGACCTTGCCAACCT... | ATGGTTGCTTTTAACAGCTGTTCGCTGATGTGGTCCTGCTCTGTCCCAGTCTAGCAGCTTTAGTGTATGGAAAAATTGAACTAGGAATTGAGTTTTGAAGAAATAAAGGTGTAAGAGCAAACATTCAACAGTTGCTGTCCCCAGTAATGAAGTTCATACAGACAAAAGATGGCATGTCACTGTACATCATACCTTGCAATAAATATTCTGTTAAATTGTGCTGGTGCAATTTAACATGCTTTTGTCAAAGTAAACATACTGTTTTCCTAATTTATAACTGTACTTGAAAATGAAAGATGAGGAAGGGACCTTGCCAACCT... | pathogenic | 147,494 |
Variant in gene XPA (XPA, DNA damage recognition and repair factor), located at chromosome 9 position 97675571: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Xeroderma_pigmentosum', 'Xeroderma_pigmentosum_group_A'] | TGTGGTCCTGCTCTGTCCCAGTCTAGCAGCTTTAGTGTATGGAAAAATTGAACTAGGAATTGAGTTTTGAAGAAATAAAGGTGTAAGAGCAAACATTCAACAGTTGCTGTCCCCAGTAATGAAGTTCATACAGACAAAAGATGGCATGTCACTGTACATCATACCTTGCAATAAATATTCTGTTAAATTGTGCTGGTGCAATTTAACATGCTTTTGTCAAAGTAAACATACTGTTTTCCTAATTTATAACTGTACTTGAAAATGAAAGATGAGGAAGGGACCTTGCCAACCTATGTAGAGCAGGTTTAGCTGTTAGTGAT... | TGTGGTCCTGCTCTGTCCCAGTCTAGCAGCTTTAGTGTATGGAAAAATTGAACTAGGAATTGAGTTTTGAAGAAATAAAGGTGTAAGAGCAAACATTCAACAGTTGCTGTCCCCAGTAATGAAGTTCATACAGACAAAAGATGGCATGTCACTGTACATCATACCTTGCAATAAATATTCTGTTAAATTGTGCTGGTGCAATTTAACATGCTTTTGTCAAAGTAAACATACTGTTTTCCTAATTTATAACTGTACTTGAAAATGAAAGATGAGGAAGGGACCTTGCCAACCTATGTAGAGCAGGTTTAGCTGTTAGTGAT... | pathogenic | 147,497 |
The genetic variant at chromosome 9, position 97675590, affecting gene XPA (XPA, DNA damage recognition and repair factor): benign or pathogenic? Disease name(s) if pathogenic? | benign | AGTCTAGCAGCTTTAGTGTATGGAAAAATTGAACTAGGAATTGAGTTTTGAAGAAATAAAGGTGTAAGAGCAAACATTCAACAGTTGCTGTCCCCAGTAATGAAGTTCATACAGACAAAAGATGGCATGTCACTGTACATCATACCTTGCAATAAATATTCTGTTAAATTGTGCTGGTGCAATTTAACATGCTTTTGTCAAAGTAAACATACTGTTTTCCTAATTTATAACTGTACTTGAAAATGAAAGATGAGGAAGGGACCTTGCCAACCTATGTAGAGCAGGTTTAGCTGTTAGTGATTTCTGGATACCAGGATTGT... | AGTCTAGCAGCTTTAGTGTATGGAAAAATTGAACTAGGAATTGAGTTTTGAAGAAATAAAGGTGTAAGAGCAAACATTCAACAGTTGCTGTCCCCAGTAATGAAGTTCATACAGACAAAAGATGGCATGTCACTGTACATCATACCTTGCAATAAATATTCTGTTAAATTGTGCTGGTGCAATTTAACATGCTTTTGTCAAAGTAAACATACTGTTTTCCTAATTTATAACTGTACTTGAAAATGAAAGATGAGGAAGGGACCTTGCCAACCTATGTAGAGCAGGTTTAGCTGTTAGTGATTTCTGGATACCAGGATTGT... | benign | 147,500 |
Gene XPA (XPA, DNA damage recognition and repair factor) variant at chromosome position 97684929 on chromosome 9: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Xeroderma_pigmentosum', 'Xeroderma_pigmentosum_group_A'] | TATGCCACATAGAATTCTTATTAAAAAAAGCATGTGATGAAATGGATGCCATCATCTTTCAATCTGTTTGTCAAATTACAGGAATTTAGTTACCATTAGATGACACTGACCAAATTACAGAATTAGTATCTAAGAAAGTACAGACAGCCCTCGTTTTAAAAAATATTTCATCACTTTGCAGATACAGGTTTTTAATTAATACTTATTATTTTATCCATGTATTATTATCTGCACCAAAATACCACCTGGAAATGGTTTAAGGAGGCAGCAAAGAGGTAAGAGTTGAGGTGATTTCAGGTAGCTGGAGTTAACAAAAAACC... | TATGCCACATAGAATTCTTATTAAAAAAAGCATGTGATGAAATGGATGCCATCATCTTTCAATCTGTTTGTCAAATTACAGGAATTTAGTTACCATTAGATGACACTGACCAAATTACAGAATTAGTATCTAAGAAAGTACAGACAGCCCTCGTTTTAAAAAATATTTCATCACTTTGCAGATACAGGTTTTTAATTAATACTTATTATTTTATCCATGTATTATTATCTGCACCAAAATACCACCTGGAAATGGTTTAAGGAGGCAGCAAAGAGGTAAGAGTTGAGGTGATTTCAGGTAGCTGGAGTTAACAAAAAACC... | pathogenic | 147,501 |
Clinically, how would you classify the variant at chromosome 9, position 97684946, gene XPA (XPA, DNA damage recognition and repair factor): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Xeroderma_pigmentosum', 'Xeroderma_pigmentosum_group_A'] | TTATTAAAAAAAGCATGTGATGAAATGGATGCCATCATCTTTCAATCTGTTTGTCAAATTACAGGAATTTAGTTACCATTAGATGACACTGACCAAATTACAGAATTAGTATCTAAGAAAGTACAGACAGCCCTCGTTTTAAAAAATATTTCATCACTTTGCAGATACAGGTTTTTAATTAATACTTATTATTTTATCCATGTATTATTATCTGCACCAAAATACCACCTGGAAATGGTTTAAGGAGGCAGCAAAGAGGTAAGAGTTGAGGTGATTTCAGGTAGCTGGAGTTAACAAAAAACCCTAGGCTAGTATATAAC... | TTATTAAAAAAAGCATGTGATGAAATGGATGCCATCATCTTTCAATCTGTTTGTCAAATTACAGGAATTTAGTTACCATTAGATGACACTGACCAAATTACAGAATTAGTATCTAAGAAAGTACAGACAGCCCTCGTTTTAAAAAATATTTCATCACTTTGCAGATACAGGTTTTTAATTAATACTTATTATTTTATCCATGTATTATTATCTGCACCAAAATACCACCTGGAAATGGTTTAAGGAGGCAGCAAAGAGGTAAGAGTTGAGGTGATTTCAGGTAGCTGGAGTTAACAAAAAACCCTAGGCTAGTATATAAC... | pathogenic | 147,502 |
The mutation in gene XPA (XPA, DNA damage recognition and repair factor) at chromosome 9, position 97684950—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Xeroderma_pigmentosum_group_A'] | TAAAAAAAGCATGTGATGAAATGGATGCCATCATCTTTCAATCTGTTTGTCAAATTACAGGAATTTAGTTACCATTAGATGACACTGACCAAATTACAGAATTAGTATCTAAGAAAGTACAGACAGCCCTCGTTTTAAAAAATATTTCATCACTTTGCAGATACAGGTTTTTAATTAATACTTATTATTTTATCCATGTATTATTATCTGCACCAAAATACCACCTGGAAATGGTTTAAGGAGGCAGCAAAGAGGTAAGAGTTGAGGTGATTTCAGGTAGCTGGAGTTAACAAAAAACCCTAGGCTAGTATATAACTAAT... | TAAAAAAAGCATGTGATGAAATGGATGCCATCATCTTTCAATCTGTTTGTCAAATTACAGGAATTTAGTTACCATTAGATGACACTGACCAAATTACAGAATTAGTATCTAAGAAAGTACAGACAGCCCTCGTTTTAAAAAATATTTCATCACTTTGCAGATACAGGTTTTTAATTAATACTTATTATTTTATCCATGTATTATTATCTGCACCAAAATACCACCTGGAAATGGTTTAAGGAGGCAGCAAAGAGGTAAGAGTTGAGGTGATTTCAGGTAGCTGGAGTTAACAAAAAACCCTAGGCTAGTATATAACTAAT... | pathogenic | 147,504 |
Clinically, how would you classify the variant at chromosome 9, position 97684990, gene XPA (XPA, DNA damage recognition and repair factor): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Xeroderma_pigmentosum_group_A'] | ATCTGTTTGTCAAATTACAGGAATTTAGTTACCATTAGATGACACTGACCAAATTACAGAATTAGTATCTAAGAAAGTACAGACAGCCCTCGTTTTAAAAAATATTTCATCACTTTGCAGATACAGGTTTTTAATTAATACTTATTATTTTATCCATGTATTATTATCTGCACCAAAATACCACCTGGAAATGGTTTAAGGAGGCAGCAAAGAGGTAAGAGTTGAGGTGATTTCAGGTAGCTGGAGTTAACAAAAAACCCTAGGCTAGTATATAACTAATCTATCACTCTGTCCTCCCTTTCGCACCTCTTAAAATGCCT... | ATCTGTTTGTCAAATTACAGGAATTTAGTTACCATTAGATGACACTGACCAAATTACAGAATTAGTATCTAAGAAAGTACAGACAGCCCTCGTTTTAAAAAATATTTCATCACTTTGCAGATACAGGTTTTTAATTAATACTTATTATTTTATCCATGTATTATTATCTGCACCAAAATACCACCTGGAAATGGTTTAAGGAGGCAGCAAAGAGGTAAGAGTTGAGGTGATTTCAGGTAGCTGGAGTTAACAAAAAACCCTAGGCTAGTATATAACTAATCTATCACTCTGTCCTCCCTTTCGCACCTCTTAAAATGCCT... | pathogenic | 147,507 |
A mutation at chromosome position 97684993 on chromosome 9 in gene XPA (XPA, DNA damage recognition and repair factor): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Xeroderma_pigmentosum_group_A'] | TGTTTGTCAAATTACAGGAATTTAGTTACCATTAGATGACACTGACCAAATTACAGAATTAGTATCTAAGAAAGTACAGACAGCCCTCGTTTTAAAAAATATTTCATCACTTTGCAGATACAGGTTTTTAATTAATACTTATTATTTTATCCATGTATTATTATCTGCACCAAAATACCACCTGGAAATGGTTTAAGGAGGCAGCAAAGAGGTAAGAGTTGAGGTGATTTCAGGTAGCTGGAGTTAACAAAAAACCCTAGGCTAGTATATAACTAATCTATCACTCTGTCCTCCCTTTCGCACCTCTTAAAATGCCTTTT... | TGTTTGTCAAATTACAGGAATTTAGTTACCATTAGATGACACTGACCAAATTACAGAATTAGTATCTAAGAAAGTACAGACAGCCCTCGTTTTAAAAAATATTTCATCACTTTGCAGATACAGGTTTTTAATTAATACTTATTATTTTATCCATGTATTATTATCTGCACCAAAATACCACCTGGAAATGGTTTAAGGAGGCAGCAAAGAGGTAAGAGTTGAGGTGATTTCAGGTAGCTGGAGTTAACAAAAAACCCTAGGCTAGTATATAACTAATCTATCACTCTGTCCTCCCTTTCGCACCTCTTAAAATGCCTTTT... | pathogenic | 147,508 |
Gene XPA (XPA, DNA damage recognition and repair factor) variant at chromosome 9, position 97687104—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Xeroderma_pigmentosum_group_A'] | CATATTTAAATAAGTTGTGATTCAGACTTGCGAAATATTATAGTTATAACTGTCAAATCCAAAGGTACCAAAGAATGATCTAACTCAAGTATAAATTTATAAATACTTATTAGAAATTTAAAGATTTTAAATATTAATGATCAGAAACAACTCTAATAAAACATCTATCTAAACCTATGAAACTGTCAGTAAACGTATGCTGAATTAGATTATAAATAGAAAAGTTGTCCTCTGACTGTATTGTCACAGGAATCAAAAGTACACGTGGTCAGTGAGTTTGATCAACTGTGGTGGGCTCACCAAAGAAACAGTTTGTTGAC... | CATATTTAAATAAGTTGTGATTCAGACTTGCGAAATATTATAGTTATAACTGTCAAATCCAAAGGTACCAAAGAATGATCTAACTCAAGTATAAATTTATAAATACTTATTAGAAATTTAAAGATTTTAAATATTAATGATCAGAAACAACTCTAATAAAACATCTATCTAAACCTATGAAACTGTCAGTAAACGTATGCTGAATTAGATTATAAATAGAAAAGTTGTCCTCTGACTGTATTGTCACAGGAATCAAAAGTACACGTGGTCAGTGAGTTTGATCAACTGTGGTGGGCTCACCAAAGAAACAGTTTGTTGAC... | pathogenic | 147,515 |
Gene mutation in XPA (XPA, DNA damage recognition and repair factor) at chromosome 9, position 97687109—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Xeroderma_pigmentosum_group_A'] | TTAAATAAGTTGTGATTCAGACTTGCGAAATATTATAGTTATAACTGTCAAATCCAAAGGTACCAAAGAATGATCTAACTCAAGTATAAATTTATAAATACTTATTAGAAATTTAAAGATTTTAAATATTAATGATCAGAAACAACTCTAATAAAACATCTATCTAAACCTATGAAACTGTCAGTAAACGTATGCTGAATTAGATTATAAATAGAAAAGTTGTCCTCTGACTGTATTGTCACAGGAATCAAAAGTACACGTGGTCAGTGAGTTTGATCAACTGTGGTGGGCTCACCAAAGAAACAGTTTGTTGACAGATT... | TTAAATAAGTTGTGATTCAGACTTGCGAAATATTATAGTTATAACTGTCAAATCCAAAGGTACCAAAGAATGATCTAACTCAAGTATAAATTTATAAATACTTATTAGAAATTTAAAGATTTTAAATATTAATGATCAGAAACAACTCTAATAAAACATCTATCTAAACCTATGAAACTGTCAGTAAACGTATGCTGAATTAGATTATAAATAGAAAAGTTGTCCTCTGACTGTATTGTCACAGGAATCAAAAGTACACGTGGTCAGTGAGTTTGATCAACTGTGGTGGGCTCACCAAAGAAACAGTTTGTTGACAGATT... | pathogenic | 147,516 |
Variant on chromosome 9, at position 97687118, affecting XPA (XPA, DNA damage recognition and repair factor): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Xeroderma_pigmentosum_group_A'] | TTGTGATTCAGACTTGCGAAATATTATAGTTATAACTGTCAAATCCAAAGGTACCAAAGAATGATCTAACTCAAGTATAAATTTATAAATACTTATTAGAAATTTAAAGATTTTAAATATTAATGATCAGAAACAACTCTAATAAAACATCTATCTAAACCTATGAAACTGTCAGTAAACGTATGCTGAATTAGATTATAAATAGAAAAGTTGTCCTCTGACTGTATTGTCACAGGAATCAAAAGTACACGTGGTCAGTGAGTTTGATCAACTGTGGTGGGCTCACCAAAGAAACAGTTTGTTGACAGATTAGCCACATC... | TTGTGATTCAGACTTGCGAAATATTATAGTTATAACTGTCAAATCCAAAGGTACCAAAGAATGATCTAACTCAAGTATAAATTTATAAATACTTATTAGAAATTTAAAGATTTTAAATATTAATGATCAGAAACAACTCTAATAAAACATCTATCTAAACCTATGAAACTGTCAGTAAACGTATGCTGAATTAGATTATAAATAGAAAAGTTGTCCTCTGACTGTATTGTCACAGGAATCAAAAGTACACGTGGTCAGTGAGTTTGATCAACTGTGGTGGGCTCACCAAAGAAACAGTTTGTTGACAGATTAGCCACATC... | pathogenic | 147,517 |
Clinical significance of chromosome 9, position 97687178, gene XPA (XPA, DNA damage recognition and repair factor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Xeroderma_pigmentosum_group_A'] | ATGATCTAACTCAAGTATAAATTTATAAATACTTATTAGAAATTTAAAGATTTTAAATATTAATGATCAGAAACAACTCTAATAAAACATCTATCTAAACCTATGAAACTGTCAGTAAACGTATGCTGAATTAGATTATAAATAGAAAAGTTGTCCTCTGACTGTATTGTCACAGGAATCAAAAGTACACGTGGTCAGTGAGTTTGATCAACTGTGGTGGGCTCACCAAAGAAACAGTTTGTTGACAGATTAGCCACATCAGACCTAAATATGAGGTCATCTCCAAAAATCTCCAACCGCAGGAAATTACCAATTACTAC... | ATGATCTAACTCAAGTATAAATTTATAAATACTTATTAGAAATTTAAAGATTTTAAATATTAATGATCAGAAACAACTCTAATAAAACATCTATCTAAACCTATGAAACTGTCAGTAAACGTATGCTGAATTAGATTATAAATAGAAAAGTTGTCCTCTGACTGTATTGTCACAGGAATCAAAAGTACACGTGGTCAGTGAGTTTGATCAACTGTGGTGGGCTCACCAAAGAAACAGTTTGTTGACAGATTAGCCACATCAGACCTAAATATGAGGTCATCTCCAAAAATCTCCAACCGCAGGAAATTACCAATTACTAC... | pathogenic | 147,521 |
Regarding the variant found on chromosome 9 at position 97687178 in gene XPA (XPA, DNA damage recognition and repair factor): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Xeroderma_pigmentosum_group_A'] | ATGATCTAACTCAAGTATAAATTTATAAATACTTATTAGAAATTTAAAGATTTTAAATATTAATGATCAGAAACAACTCTAATAAAACATCTATCTAAACCTATGAAACTGTCAGTAAACGTATGCTGAATTAGATTATAAATAGAAAAGTTGTCCTCTGACTGTATTGTCACAGGAATCAAAAGTACACGTGGTCAGTGAGTTTGATCAACTGTGGTGGGCTCACCAAAGAAACAGTTTGTTGACAGATTAGCCACATCAGACCTAAATATGAGGTCATCTCCAAAAATCTCCAACCGCAGGAAATTACCAATTACTAC... | ATGATCTAACTCAAGTATAAATTTATAAATACTTATTAGAAATTTAAAGATTTTAAATATTAATGATCAGAAACAACTCTAATAAAACATCTATCTAAACCTATGAAACTGTCAGTAAACGTATGCTGAATTAGATTATAAATAGAAAAGTTGTCCTCTGACTGTATTGTCACAGGAATCAAAAGTACACGTGGTCAGTGAGTTTGATCAACTGTGGTGGGCTCACCAAAGAAACAGTTTGTTGACAGATTAGCCACATCAGACCTAAATATGAGGTCATCTCCAAAAATCTCCAACCGCAGGAAATTACCAATTACTAC... | pathogenic | 147,522 |
Benign or pathogenic: chromosome 9, position 97687190, gene XPA (XPA, DNA damage recognition and repair factor) variant? Disease(s) if pathogenic? | pathogenic; ['Xeroderma_pigmentosum_group_A'] | AAGTATAAATTTATAAATACTTATTAGAAATTTAAAGATTTTAAATATTAATGATCAGAAACAACTCTAATAAAACATCTATCTAAACCTATGAAACTGTCAGTAAACGTATGCTGAATTAGATTATAAATAGAAAAGTTGTCCTCTGACTGTATTGTCACAGGAATCAAAAGTACACGTGGTCAGTGAGTTTGATCAACTGTGGTGGGCTCACCAAAGAAACAGTTTGTTGACAGATTAGCCACATCAGACCTAAATATGAGGTCATCTCCAAAAATCTCCAACCGCAGGAAATTACCAATTACTACTACTCATCTCCT... | AAGTATAAATTTATAAATACTTATTAGAAATTTAAAGATTTTAAATATTAATGATCAGAAACAACTCTAATAAAACATCTATCTAAACCTATGAAACTGTCAGTAAACGTATGCTGAATTAGATTATAAATAGAAAAGTTGTCCTCTGACTGTATTGTCACAGGAATCAAAAGTACACGTGGTCAGTGAGTTTGATCAACTGTGGTGGGCTCACCAAAGAAACAGTTTGTTGACAGATTAGCCACATCAGACCTAAATATGAGGTCATCTCCAAAAATCTCCAACCGCAGGAAATTACCAATTACTACTACTCATCTCCT... | pathogenic | 147,523 |
A genetic alteration at chromosome 9, position 97687221, in gene XPA (XPA, DNA damage recognition and repair factor)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Xeroderma_pigmentosum', 'Xeroderma_pigmentosum_group_A'] | TTAAAGATTTTAAATATTAATGATCAGAAACAACTCTAATAAAACATCTATCTAAACCTATGAAACTGTCAGTAAACGTATGCTGAATTAGATTATAAATAGAAAAGTTGTCCTCTGACTGTATTGTCACAGGAATCAAAAGTACACGTGGTCAGTGAGTTTGATCAACTGTGGTGGGCTCACCAAAGAAACAGTTTGTTGACAGATTAGCCACATCAGACCTAAATATGAGGTCATCTCCAAAAATCTCCAACCGCAGGAAATTACCAATTACTACTACTCATCTCCTTCAAGATCAATAATTGTCTCTATCGACTTGA... | TTAAAGATTTTAAATATTAATGATCAGAAACAACTCTAATAAAACATCTATCTAAACCTATGAAACTGTCAGTAAACGTATGCTGAATTAGATTATAAATAGAAAAGTTGTCCTCTGACTGTATTGTCACAGGAATCAAAAGTACACGTGGTCAGTGAGTTTGATCAACTGTGGTGGGCTCACCAAAGAAACAGTTTGTTGACAGATTAGCCACATCAGACCTAAATATGAGGTCATCTCCAAAAATCTCCAACCGCAGGAAATTACCAATTACTACTACTCATCTCCTTCAAGATCAATAATTGTCTCTATCGACTTGA... | pathogenic | 147,525 |
Does the chromosome 9 mutation at position 97689554 within gene XPA (XPA, DNA damage recognition and repair factor) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic | AGGCTCTAGGGCAGGGGTGTATTTTGCAAAGAGAGCTTACAGCAAGAGGACCAGTGTAACTAGAAGACCTGAAGTAAGCGATGGTGAGGAGTGGTGGGAGATACAGTCAGAGACAGTCAGGACCTTGCAAGCAATGGTGAAGACAATGGTTAGAAACCACTAGAAGGTTTTGAGCAAAATACTATATGAAAAGGAGACCCTAGGGGTGCGAAAGGGGTAATGGGGGAGAGACCAGTTAGAACACTACTGCGGTGGTCCAGGCAAGAGCTGATGGTGGCCTAGACTAAGGCAGCAGTGGGAGAGGATGAGATGCCGATGAA... | AGGCTCTAGGGCAGGGGTGTATTTTGCAAAGAGAGCTTACAGCAAGAGGACCAGTGTAACTAGAAGACCTGAAGTAAGCGATGGTGAGGAGTGGTGGGAGATACAGTCAGAGACAGTCAGGACCTTGCAAGCAATGGTGAAGACAATGGTTAGAAACCACTAGAAGGTTTTGAGCAAAATACTATATGAAAAGGAGACCCTAGGGGTGCGAAAGGGGTAATGGGGGAGAGACCAGTTAGAACACTACTGCGGTGGTCCAGGCAAGAGCTGATGGTGGCCTAGACTAAGGCAGCAGTGGGAGAGGATGAGATGCCGATGAA... | pathogenic | 147,531 |
Evaluate if the mutation on chromosome 9 at position 97689569 in XPA (XPA, DNA damage recognition and repair factor) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Xeroderma_pigmentosum', 'Xeroderma_pigmentosum_group_A'] | GGTGTATTTTGCAAAGAGAGCTTACAGCAAGAGGACCAGTGTAACTAGAAGACCTGAAGTAAGCGATGGTGAGGAGTGGTGGGAGATACAGTCAGAGACAGTCAGGACCTTGCAAGCAATGGTGAAGACAATGGTTAGAAACCACTAGAAGGTTTTGAGCAAAATACTATATGAAAAGGAGACCCTAGGGGTGCGAAAGGGGTAATGGGGGAGAGACCAGTTAGAACACTACTGCGGTGGTCCAGGCAAGAGCTGATGGTGGCCTAGACTAAGGCAGCAGTGGGAGAGGATGAGATGCCGATGAATTCAGGATATGGTGA... | GGTGTATTTTGCAAAGAGAGCTTACAGCAAGAGGACCAGTGTAACTAGAAGACCTGAAGTAAGCGATGGTGAGGAGTGGTGGGAGATACAGTCAGAGACAGTCAGGACCTTGCAAGCAATGGTGAAGACAATGGTTAGAAACCACTAGAAGGTTTTGAGCAAAATACTATATGAAAAGGAGACCCTAGGGGTGCGAAAGGGGTAATGGGGGAGAGACCAGTTAGAACACTACTGCGGTGGTCCAGGCAAGAGCTGATGGTGGCCTAGACTAAGGCAGCAGTGGGAGAGGATGAGATGCCGATGAATTCAGGATATGGTGA... | pathogenic | 147,532 |
Considering the variant on chromosome 9, location 97689582, involving gene XPA (XPA, DNA damage recognition and repair factor), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic | AAGAGAGCTTACAGCAAGAGGACCAGTGTAACTAGAAGACCTGAAGTAAGCGATGGTGAGGAGTGGTGGGAGATACAGTCAGAGACAGTCAGGACCTTGCAAGCAATGGTGAAGACAATGGTTAGAAACCACTAGAAGGTTTTGAGCAAAATACTATATGAAAAGGAGACCCTAGGGGTGCGAAAGGGGTAATGGGGGAGAGACCAGTTAGAACACTACTGCGGTGGTCCAGGCAAGAGCTGATGGTGGCCTAGACTAAGGCAGCAGTGGGAGAGGATGAGATGCCGATGAATTCAGGATATGGTGAACCTAGAGCCAAA... | AAGAGAGCTTACAGCAAGAGGACCAGTGTAACTAGAAGACCTGAAGTAAGCGATGGTGAGGAGTGGTGGGAGATACAGTCAGAGACAGTCAGGACCTTGCAAGCAATGGTGAAGACAATGGTTAGAAACCACTAGAAGGTTTTGAGCAAAATACTATATGAAAAGGAGACCCTAGGGGTGCGAAAGGGGTAATGGGGGAGAGACCAGTTAGAACACTACTGCGGTGGTCCAGGCAAGAGCTGATGGTGGCCTAGACTAAGGCAGCAGTGGGAGAGGATGAGATGCCGATGAATTCAGGATATGGTGAACCTAGAGCCAAA... | pathogenic | 147,533 |
Variant on chromosome 9, at position 97689583, affecting XPA (XPA, DNA damage recognition and repair factor): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Xeroderma_pigmentosum_group_A'] | AGAGAGCTTACAGCAAGAGGACCAGTGTAACTAGAAGACCTGAAGTAAGCGATGGTGAGGAGTGGTGGGAGATACAGTCAGAGACAGTCAGGACCTTGCAAGCAATGGTGAAGACAATGGTTAGAAACCACTAGAAGGTTTTGAGCAAAATACTATATGAAAAGGAGACCCTAGGGGTGCGAAAGGGGTAATGGGGGAGAGACCAGTTAGAACACTACTGCGGTGGTCCAGGCAAGAGCTGATGGTGGCCTAGACTAAGGCAGCAGTGGGAGAGGATGAGATGCCGATGAATTCAGGATATGGTGAACCTAGAGCCAAAC... | AGAGAGCTTACAGCAAGAGGACCAGTGTAACTAGAAGACCTGAAGTAAGCGATGGTGAGGAGTGGTGGGAGATACAGTCAGAGACAGTCAGGACCTTGCAAGCAATGGTGAAGACAATGGTTAGAAACCACTAGAAGGTTTTGAGCAAAATACTATATGAAAAGGAGACCCTAGGGGTGCGAAAGGGGTAATGGGGGAGAGACCAGTTAGAACACTACTGCGGTGGTCCAGGCAAGAGCTGATGGTGGCCTAGACTAAGGCAGCAGTGGGAGAGGATGAGATGCCGATGAATTCAGGATATGGTGAACCTAGAGCCAAAC... | pathogenic | 147,534 |
Variant in gene XPA (XPA, DNA damage recognition and repair factor), located at chromosome 9 position 97689634: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Inborn_genetic_diseases'] | ATGGTGAGGAGTGGTGGGAGATACAGTCAGAGACAGTCAGGACCTTGCAAGCAATGGTGAAGACAATGGTTAGAAACCACTAGAAGGTTTTGAGCAAAATACTATATGAAAAGGAGACCCTAGGGGTGCGAAAGGGGTAATGGGGGAGAGACCAGTTAGAACACTACTGCGGTGGTCCAGGCAAGAGCTGATGGTGGCCTAGACTAAGGCAGCAGTGGGAGAGGATGAGATGCCGATGAATTCAGGATATGGTGAACCTAGAGCCAAACAGGTTTGGAATTAATACACACAGGAGAGTGGAGACATAGCCAGCGAATGAA... | ATGGTGAGGAGTGGTGGGAGATACAGTCAGAGACAGTCAGGACCTTGCAAGCAATGGTGAAGACAATGGTTAGAAACCACTAGAAGGTTTTGAGCAAAATACTATATGAAAAGGAGACCCTAGGGGTGCGAAAGGGGTAATGGGGGAGAGACCAGTTAGAACACTACTGCGGTGGTCCAGGCAAGAGCTGATGGTGGCCTAGACTAAGGCAGCAGTGGGAGAGGATGAGATGCCGATGAATTCAGGATATGGTGAACCTAGAGCCAAACAGGTTTGGAATTAATACACACAGGAGAGTGGAGACATAGCCAGCGAATGAA... | pathogenic | 147,537 |
Clinical significance of chromosome 9, position 97693664, gene XPA (XPA, DNA damage recognition and repair factor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Xeroderma_pigmentosum_group_A'] | GGCAGGAGAATCGCTTGTGCCCATGAGGTGGAGGTTGCAGCAAGCCAAGATTGCCCCACTGCATTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAACAAAAACAAAAAAAATTAGCCAGGCATGGTAGTGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTAAGCCAAGATCATGCCACTGCACTCCAGGCTGGCGACAGAGCAAGGCTCTTTCTAAATAAATATATATATATATATATATATATATATATGTAAATAAATAAATTTTAC... | GGCAGGAGAATCGCTTGTGCCCATGAGGTGGAGGTTGCAGCAAGCCAAGATTGCCCCACTGCATTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAACAAAAACAAAAAAAATTAGCCAGGCATGGTAGTGTGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTAAGCCAAGATCATGCCACTGCACTCCAGGCTGGCGACAGAGCAAGGCTCTTTCTAAATAAATATATATATATATATATATATATATATATGTAAATAAATAAATTTTAC... | pathogenic | 147,539 |
Clinical classification of chromosome 9, position 98299217, gene GABBR2 (gamma-aminobutyric acid type B receptor subunit 2): benign or pathogenic? Disease(s) if pathogenic? | benign | CTTTTACCAGATACGAAAGTTATTAGAAGTAATTTTTATTCTTGTAATTTCCTTGTTATCTCAATTTAAACGTTTTTGCAATAACCATGTTATATAATATTAATTATAGAATATTGCTACTGTAATAAGACCACTTACTACTTATATAATCAGAATAAAAGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACACAAAAATTAGCTGGGTGCAGTGGCAGGCACC... | CTTTTACCAGATACGAAAGTTATTAGAAGTAATTTTTATTCTTGTAATTTCCTTGTTATCTCAATTTAAACGTTTTTGCAATAACCATGTTATATAATATTAATTATAGAATATTGCTACTGTAATAAGACCACTTACTACTTATATAATCAGAATAAAAGGCCAGGCATGGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACACAAAAATTAGCTGGGTGCAGTGGCAGGCACC... | benign | 147,623 |
Determine whether the variant at chromosome 9, position 98311213, in gene GABBR2 (gamma-aminobutyric acid type B receptor subunit 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TTTGTGCTATTAAATATAGCTTTTGTTGACATGAGCTGGCTGAAGCTGTTAGCTTCACGGGAAGACATACAGTCATTTCTCATCTCCAACCACTTTGGAAGTAGGTGGGAGAAGACAATGAATGATCAAAACATTACAAATAAATCCAGTTTAAAGATGTCAATATGATTCATCGTAATCTATTTTCACGGAATGAGTCTCAGAATCAAGGAACATTAAGGATGGAAGGATCACGGAGACAGTCTAGATTCTCTCTATTCAACCAGGGTCAGGGAGGCACAGGTCATTGACATGACATGCTTTCCCATGACAGGGAGCTT... | TTTGTGCTATTAAATATAGCTTTTGTTGACATGAGCTGGCTGAAGCTGTTAGCTTCACGGGAAGACATACAGTCATTTCTCATCTCCAACCACTTTGGAAGTAGGTGGGAGAAGACAATGAATGATCAAAACATTACAAATAAATCCAGTTTAAAGATGTCAATATGATTCATCGTAATCTATTTTCACGGAATGAGTCTCAGAATCAAGGAACATTAAGGATGGAAGGATCACGGAGACAGTCTAGATTCTCTCTATTCAACCAGGGTCAGGGAGGCACAGGTCATTGACATGACATGCTTTCCCATGACAGGGAGCTT... | benign | 147,644 |
Regarding the variant at chromosome 9 and position 98708687, affecting gene GABBR2 (gamma-aminobutyric acid type B receptor subunit 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TGAAATCTCTTTCAGGGAAGCTTTCTAAAGGGAAGAAACTGATGATGAAAACATTATGCAGCTGACAATACTTGGTGATGATGCAAGCAGGGCTGCCCTATCTAAAAATGTGTTTGTCCCCAAAAGACCGGCTTTGCAGTGACCCCTCCAGAAGAATATGTGCAGTAGCAACAGAGAAACTGTCAAGAAGATATGCCTCCGTGTAACTGCATTGCTGTCTCCATTTATGTGTGCCAGACAAGTACCCCCACAGAACTTGAGATGCTCAGGCAAAGACGAGGGCGATAGGAATGTCATTCGGAAATGATTTCACACCGGGT... | TGAAATCTCTTTCAGGGAAGCTTTCTAAAGGGAAGAAACTGATGATGAAAACATTATGCAGCTGACAATACTTGGTGATGATGCAAGCAGGGCTGCCCTATCTAAAAATGTGTTTGTCCCCAAAAGACCGGCTTTGCAGTGACCCCTCCAGAAGAATATGTGCAGTAGCAACAGAGAAACTGTCAAGAAGATATGCCTCCGTGTAACTGCATTGCTGTCTCCATTTATGTGTGCCAGACAAGTACCCCCACAGAACTTGAGATGCTCAGGCAAAGACGAGGGCGATAGGAATGTCATTCGGAAATGATTTCACACCGGGT... | benign | 147,717 |
Chromosome 9, position 99105255, gene TGFBR1 (transforming growth factor beta receptor 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GAACATACATGCTGATTAGAATCATACAGAGCTGGAAGGGGATGGGCAAAGAAATGGCATTAGCTAAATATTTACTATGTTCCAGACACTGTACCAGACACATTACGTCATTTAAGGGGCCCAAGACAAGTGATTCAATCCCTTTTATTTATAAACGGGGTAGGTACTATTATTATTTACATTTTAGAGATGAAGAAGCTAATGGCCAGAGAAAAACAGTCACTTTCTGAGATCATTCATTCATTCATACAATAAAAATCTCATTAGCTCTTATCTTATGAAAGACATTGCAAATAGAGCAGCAAAAAGGCAGTCTAGGG... | GAACATACATGCTGATTAGAATCATACAGAGCTGGAAGGGGATGGGCAAAGAAATGGCATTAGCTAAATATTTACTATGTTCCAGACACTGTACCAGACACATTACGTCATTTAAGGGGCCCAAGACAAGTGATTCAATCCCTTTTATTTATAAACGGGGTAGGTACTATTATTATTTACATTTTAGAGATGAAGAAGCTAATGGCCAGAGAAAAACAGTCACTTTCTGAGATCATTCATTCATTCATACAATAAAAATCTCATTAGCTCTTATCTTATGAAAGACATTGCAAATAGAGCAGCAAAAAGGCAGTCTAGGG... | benign | 147,948 |
Benign or pathogenic: chromosome 9, position 99105255, gene TGFBR1 (transforming growth factor beta receptor 1) variant? Disease(s) if pathogenic? | benign | GAACATACATGCTGATTAGAATCATACAGAGCTGGAAGGGGATGGGCAAAGAAATGGCATTAGCTAAATATTTACTATGTTCCAGACACTGTACCAGACACATTACGTCATTTAAGGGGCCCAAGACAAGTGATTCAATCCCTTTTATTTATAAACGGGGTAGGTACTATTATTATTTACATTTTAGAGATGAAGAAGCTAATGGCCAGAGAAAAACAGTCACTTTCTGAGATCATTCATTCATTCATACAATAAAAATCTCATTAGCTCTTATCTTATGAAAGACATTGCAAATAGAGCAGCAAAAAGGCAGTCTAGGG... | GAACATACATGCTGATTAGAATCATACAGAGCTGGAAGGGGATGGGCAAAGAAATGGCATTAGCTAAATATTTACTATGTTCCAGACACTGTACCAGACACATTACGTCATTTAAGGGGCCCAAGACAAGTGATTCAATCCCTTTTATTTATAAACGGGGTAGGTACTATTATTATTTACATTTTAGAGATGAAGAAGCTAATGGCCAGAGAAAAACAGTCACTTTCTGAGATCATTCATTCATTCATACAATAAAAATCTCATTAGCTCTTATCTTATGAAAGACATTGCAAATAGAGCAGCAAAAAGGCAGTCTAGGG... | benign | 147,949 |
Is the genetic mutation found on chromosome 9 at position 99105255, within the gene TGFBR1 (transforming growth factor beta receptor 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GAACATACATGCTGATTAGAATCATACAGAGCTGGAAGGGGATGGGCAAAGAAATGGCATTAGCTAAATATTTACTATGTTCCAGACACTGTACCAGACACATTACGTCATTTAAGGGGCCCAAGACAAGTGATTCAATCCCTTTTATTTATAAACGGGGTAGGTACTATTATTATTTACATTTTAGAGATGAAGAAGCTAATGGCCAGAGAAAAACAGTCACTTTCTGAGATCATTCATTCATTCATACAATAAAAATCTCATTAGCTCTTATCTTATGAAAGACATTGCAAATAGAGCAGCAAAAAGGCAGTCTAGGG... | GAACATACATGCTGATTAGAATCATACAGAGCTGGAAGGGGATGGGCAAAGAAATGGCATTAGCTAAATATTTACTATGTTCCAGACACTGTACCAGACACATTACGTCATTTAAGGGGCCCAAGACAAGTGATTCAATCCCTTTTATTTATAAACGGGGTAGGTACTATTATTATTTACATTTTAGAGATGAAGAAGCTAATGGCCAGAGAAAAACAGTCACTTTCTGAGATCATTCATTCATTCATACAATAAAAATCTCATTAGCTCTTATCTTATGAAAGACATTGCAAATAGAGCAGCAAAAAGGCAGTCTAGGG... | benign | 147,950 |
Variant on chromosome 9, at position 99105325, affecting TGFBR1 (transforming growth factor beta receptor 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TTTACTATGTTCCAGACACTGTACCAGACACATTACGTCATTTAAGGGGCCCAAGACAAGTGATTCAATCCCTTTTATTTATAAACGGGGTAGGTACTATTATTATTTACATTTTAGAGATGAAGAAGCTAATGGCCAGAGAAAAACAGTCACTTTCTGAGATCATTCATTCATTCATACAATAAAAATCTCATTAGCTCTTATCTTATGAAAGACATTGCAAATAGAGCAGCAAAAAGGCAGTCTAGGGACCTCAGGTGGCACAAAGTCCACCAAATCTCCATTGAAGAAACTGGAACTGAGAGGGCAAATTGGGACTG... | TTTACTATGTTCCAGACACTGTACCAGACACATTACGTCATTTAAGGGGCCCAAGACAAGTGATTCAATCCCTTTTATTTATAAACGGGGTAGGTACTATTATTATTTACATTTTAGAGATGAAGAAGCTAATGGCCAGAGAAAAACAGTCACTTTCTGAGATCATTCATTCATTCATACAATAAAAATCTCATTAGCTCTTATCTTATGAAAGACATTGCAAATAGAGCAGCAAAAAGGCAGTCTAGGGACCTCAGGTGGCACAAAGTCCACCAAATCTCCATTGAAGAAACTGGAACTGAGAGGGCAAATTGGGACTG... | benign | 147,953 |
Classify the chromosome 9 variant at position 99137845 affecting gene TGFBR1 (transforming growth factor beta receptor 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | AATATAGAGATCTAAATTAGGCCTATTCAGTTTTGTCTTTAGAAGAAAATTGTTACTTTTTTTTTTTTTTTTTTTGGAGACGGAGTTTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCTCTGCAGCCTTCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCATGCCCAGCTAATTTTTGTATATTTATTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGATCTCTAGTGATCCAACCACGTCGGCCTCCTAA... | AATATAGAGATCTAAATTAGGCCTATTCAGTTTTGTCTTTAGAAGAAAATTGTTACTTTTTTTTTTTTTTTTTTTGGAGACGGAGTTTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCTCTGCAGCCTTCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCATGCCCAGCTAATTTTTGTATATTTATTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGATCTCTAGTGATCCAACCACGTCGGCCTCCTAA... | benign | 147,981 |
Considering the variant on chromosome 9, location 99137961, involving gene TGFBR1 (transforming growth factor beta receptor 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Loeys-Dietz_syndrome'] | GGTGGGATCTCAGCTCTCTGCAGCCTTCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCATGCCCAGCTAATTTTTGTATATTTATTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGATCTCTAGTGATCCAACCACGTCGGCCTCCTAAAGTGCTGGGATTAGAGGTGTGAGTCACTGTGCCTGGCCAATTGTTAACTTTTTAAAAATGCTCAACTATTCATGTGAAGTAATCCAATATAGATAATACAGTGGATCAAGATTTGC... | GGTGGGATCTCAGCTCTCTGCAGCCTTCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCATGCCCAGCTAATTTTTGTATATTTATTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGATCTCTAGTGATCCAACCACGTCGGCCTCCTAAAGTGCTGGGATTAGAGGTGTGAGTCACTGTGCCTGGCCAATTGTTAACTTTTTAAAAATGCTCAACTATTCATGTGAAGTAATCCAATATAGATAATACAGTGGATCAAGATTTGC... | pathogenic | 147,991 |
Evaluate the clinical significance of the mutation at chromosome 9, position 99138072 in gene TGFBR1 (transforming growth factor beta receptor 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Loeys-Dietz_syndrome_1', 'Multiple_self-healing_squamous_epithelioma'] | TTTGTATATTTATTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGATCTCTAGTGATCCAACCACGTCGGCCTCCTAAAGTGCTGGGATTAGAGGTGTGAGTCACTGTGCCTGGCCAATTGTTAACTTTTTAAAAATGCTCAACTATTCATGTGAAGTAATCCAATATAGATAATACAGTGGATCAAGATTTGCTTTTTAATTTTAATTGACATCTAGAATCCAGTGATAAAGGGGAAGACAAAACCTTTCCTCGTCCTGTTGGCCTTTCTTGACCATACCATTTACACAAGTCCTGAACCTGTC... | TTTGTATATTTATTAGAGACCAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGATCTCTAGTGATCCAACCACGTCGGCCTCCTAAAGTGCTGGGATTAGAGGTGTGAGTCACTGTGCCTGGCCAATTGTTAACTTTTTAAAAATGCTCAACTATTCATGTGAAGTAATCCAATATAGATAATACAGTGGATCAAGATTTGCTTTTTAATTTTAATTGACATCTAGAATCCAGTGATAAAGGGGAAGACAAAACCTTTCCTCGTCCTGTTGGCCTTTCTTGACCATACCATTTACACAAGTCCTGAACCTGTC... | pathogenic | 148,001 |
Variant on chromosome 9, at position 99146474, affecting TGFBR1 (transforming growth factor beta receptor 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CTAAGTTTCTTAAAAAGAATTCATAAGGCACCAACAGATAAACTGATAACTTTTTTTTTGCCCCAGTCTTTGAGTTGTTCATCTTTTAAAGCATGTTATTGTCCACATTTTCTTTAAAGAAATATAAATTCAGTGACTTTTGGTGTAGTGATTCACTTGAGTTTAATAATGCCGTAAGTATTGTAGGTCATGTGGGCTGAAATGCTTTGATAATTTGGGTTGGGAGAAGAGACTTTTGAACCTAAAGATGTGAGTTGTGATTGGTATTACCTTTTAAGCAGTCATGTTTAATTTTTGATTCTTTAGGAAAGCCAGCCATT... | CTAAGTTTCTTAAAAAGAATTCATAAGGCACCAACAGATAAACTGATAACTTTTTTTTTGCCCCAGTCTTTGAGTTGTTCATCTTTTAAAGCATGTTATTGTCCACATTTTCTTTAAAGAAATATAAATTCAGTGACTTTTGGTGTAGTGATTCACTTGAGTTTAATAATGCCGTAAGTATTGTAGGTCATGTGGGCTGAAATGCTTTGATAATTTGGGTTGGGAGAAGAGACTTTTGAACCTAAAGATGTGAGTTGTGATTGGTATTACCTTTTAAGCAGTCATGTTTAATTTTTGATTCTTTAGGAAAGCCAGCCATT... | benign | 148,026 |
Mutation found at chromosome 9 position 99147869, gene TGFBR1 (transforming growth factor beta receptor 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CTATTCAAATTGCATGTATAATTTTGAGATTTCTGGATTCCCTGGGGACTCTCAATTTTCCCATCCAAGTACTAAGCAGGCCCGACCCTGCTTAGCTTCCAAGATCAGACGAGATCGGGCGTGTTTAGGGTGGTATGGCCGTAGATGACTCTCAATTCTCAACCAGCTAAGGGGTCCTTGTCAGTGGTTGCTGTAGGTCTCTGTGGGTCCTGACCCATAATTTTGGTAGGTTTTTGAAGCTTCAGTATGAGGACTGGCATTCTTTTGTATCTATTATTTTTTTCCCTGGAGTATATTCGTGCCCTTCCTTTCATCCTCAG... | CTATTCAAATTGCATGTATAATTTTGAGATTTCTGGATTCCCTGGGGACTCTCAATTTTCCCATCCAAGTACTAAGCAGGCCCGACCCTGCTTAGCTTCCAAGATCAGACGAGATCGGGCGTGTTTAGGGTGGTATGGCCGTAGATGACTCTCAATTCTCAACCAGCTAAGGGGTCCTTGTCAGTGGTTGCTGTAGGTCTCTGTGGGTCCTGACCCATAATTTTGGTAGGTTTTTGAAGCTTCAGTATGAGGACTGGCATTCTTTTGTATCTATTATTTTTTTCCCTGGAGTATATTCGTGCCCTTCCTTTCATCCTCAG... | benign | 148,045 |
A genetic variant at chromosome 9, position 99149154, affecting gene TGFBR1 (transforming growth factor beta receptor 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | AGGAAACAGTCTCTTAGGCTTGGGGACCTAGACTTGGCTGAGACCTAGTGCCTTAGGTTTTTGAAGCAGTGAGGGACAGAGTATTTCTCTGTATTGTAGTAAATAGGATATATTATTGACAGATGCAAGTAGAGAAAGGGACTTGGCACCTTAAACTTGCCTCATAAGATTCAAGTCTCACTGATAGGGTATATATATCCCTGTGCAAGTGAGAGCCTGTGCACTTACAGAATAGAATCTCATTTGCTGCACAATAGGGTTCTAGGGGAAAATGTCAATCTGGTCATCACAGCTCATAGTTTACTGTCATTTCAAATAGG... | AGGAAACAGTCTCTTAGGCTTGGGGACCTAGACTTGGCTGAGACCTAGTGCCTTAGGTTTTTGAAGCAGTGAGGGACAGAGTATTTCTCTGTATTGTAGTAAATAGGATATATTATTGACAGATGCAAGTAGAGAAAGGGACTTGGCACCTTAAACTTGCCTCATAAGATTCAAGTCTCACTGATAGGGTATATATATCCCTGTGCAAGTGAGAGCCTGTGCACTTACAGAATAGAATCTCATTTGCTGCACAATAGGGTTCTAGGGGAAAATGTCAATCTGGTCATCACAGCTCATAGTTTACTGTCATTTCAAATAGG... | benign | 148,046 |
Does the chromosome 9 mutation at position 99149165 within gene TGFBR1 (transforming growth factor beta receptor 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TCTTAGGCTTGGGGACCTAGACTTGGCTGAGACCTAGTGCCTTAGGTTTTTGAAGCAGTGAGGGACAGAGTATTTCTCTGTATTGTAGTAAATAGGATATATTATTGACAGATGCAAGTAGAGAAAGGGACTTGGCACCTTAAACTTGCCTCATAAGATTCAAGTCTCACTGATAGGGTATATATATCCCTGTGCAAGTGAGAGCCTGTGCACTTACAGAATAGAATCTCATTTGCTGCACAATAGGGTTCTAGGGGAAAATGTCAATCTGGTCATCACAGCTCATAGTTTACTGTCATTTCAAATAGGCTTTATTGATC... | TCTTAGGCTTGGGGACCTAGACTTGGCTGAGACCTAGTGCCTTAGGTTTTTGAAGCAGTGAGGGACAGAGTATTTCTCTGTATTGTAGTAAATAGGATATATTATTGACAGATGCAAGTAGAGAAAGGGACTTGGCACCTTAAACTTGCCTCATAAGATTCAAGTCTCACTGATAGGGTATATATATCCCTGTGCAAGTGAGAGCCTGTGCACTTACAGAATAGAATCTCATTTGCTGCACAATAGGGTTCTAGGGGAAAATGTCAATCTGGTCATCACAGCTCATAGTTTACTGTCATTTCAAATAGGCTTTATTGATC... | benign | 148,048 |
Gene INVS (inversin) variant at chromosome position 100226046 on chromosome 9: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CGGCCATACATAAAATAGCACTAACAATAACTGATGAGCAAAAAAAACAAAACAAAAAAAAACACGCAAAAAAATCTCATAATGTTTTAAGAAAGTTTAAGAATTTTGTTGGGCCACATTCAAAGCCATCCTGGGCCACGTGCAAGCCAGGTGCCGCGGTGTGGACAAGCTTGCTGTAGAGCTGCACATTCTTCACAGTAGGTGGTCTGCTTGATTAAAAAATGTATTCCTTACTAATATTGATAGTCCCTCATAGGAGAACATCAATGCATTATCATGCTAAAAGGGCCCACTTCTAACAAGGTTAAGGATGACAAATG... | CGGCCATACATAAAATAGCACTAACAATAACTGATGAGCAAAAAAAACAAAACAAAAAAAAACACGCAAAAAAATCTCATAATGTTTTAAGAAAGTTTAAGAATTTTGTTGGGCCACATTCAAAGCCATCCTGGGCCACGTGCAAGCCAGGTGCCGCGGTGTGGACAAGCTTGCTGTAGAGCTGCACATTCTTCACAGTAGGTGGTCTGCTTGATTAAAAAATGTATTCCTTACTAATATTGATAGTCCCTCATAGGAGAACATCAATGCATTATCATGCTAAAAGGGCCCACTTCTAACAAGGTTAAGGATGACAAATG... | benign | 148,102 |
The chromosome 9, position 100229707 genetic variant in gene INVS (inversin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Infantile_nephronophthisis', 'Nephronophthisis'] | GAAGGCCATGAAGAGAGGATTCTTGTGCTTGTAAGCCTGATTAAAAAAAAAAAAAATCACAGACTGTGCAAAAACCACAGCCTTGCACAAAGGCCATCATAACCTTACACAAAAATTACTTCTTCAAAGACATTTGCCCAGCAACTGCCTGTCCAACCTTGCACTGGCATTATCTTTGTTATCGATCTTTGTAGCCAAGGATCATCATTTGAAAACAATTACGTAATCCTGCTCATTTTTCTTTTAAAAACTTTTGTCTTCCTTTACTTGAGTACACATAGTTTAGCAATGCCCTACTACCAGATACCAAATAAACATTA... | GAAGGCCATGAAGAGAGGATTCTTGTGCTTGTAAGCCTGATTAAAAAAAAAAAAAATCACAGACTGTGCAAAAACCACAGCCTTGCACAAAGGCCATCATAACCTTACACAAAAATTACTTCTTCAAAGACATTTGCCCAGCAACTGCCTGTCCAACCTTGCACTGGCATTATCTTTGTTATCGATCTTTGTAGCCAAGGATCATCATTTGAAAACAATTACGTAATCCTGCTCATTTTTCTTTTAAAAACTTTTGTCTTCCTTTACTTGAGTACACATAGTTTAGCAATGCCCTACTACCAGATACCAAATAAACATTA... | pathogenic | 148,105 |
Does the variant impacting INVS (inversin) on chromosome 9, position 100240103, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Nephronophthisis'] | TTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTTTTGAACTCTTGGCCTCAAGTGATCCACCTACGTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCCCCAGCCAACTCTCCTTTTTAATTGTTAAGAATGTATGCCTCTTGAAAAAAAAATGATTATCCTGTGTACACAGTCCTAGGAATCTATTTTTCTCAGCTCTTTCAGCATATTATTTTGCTACTTTCTGCCTTTTATTATTGCTCTTAAGGAGTCTGTTATTGGTCTGTCATTCCTTTATACATGATGTATCTTTTCTCTCAGG... | TTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTTTTGAACTCTTGGCCTCAAGTGATCCACCTACGTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACCCCCAGCCAACTCTCCTTTTTAATTGTTAAGAATGTATGCCTCTTGAAAAAAAAATGATTATCCTGTGTACACAGTCCTAGGAATCTATTTTTCTCAGCTCTTTCAGCATATTATTTTGCTACTTTCTGCCTTTTATTATTGCTCTTAAGGAGTCTGTTATTGGTCTGTCATTCCTTTATACATGATGTATCTTTTCTCTCAGG... | pathogenic | 148,108 |
Mutation found at chromosome 9 position 100242603, gene INVS (inversin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Infantile_nephronophthisis', 'Nephronophthisis'] | TTTATGTTTATGCTAATACTATGATATTTGAGTTTTTTTCTTTATATTTTCCTGAAATGCCTTTTACTTAACCTTTTTGAAGATCACTTTTATAGATGAGAGAGTGTATATATGTGTATGTTTTATGTGTATGTTGGGGTTTTTTGTGTGTGGAGTCAATCTGAGAGTCTTTCTCTTTCAATGAAGGAGTTTTACCCATTAATAGTCATTGTTATAAGATAAATAATCAGGTCTTTTTTTTTCCTGCTATCTTTCTATTCTTAGTGTTTTCAGCTTAACGTTTTGTTTTGTTTTGTTTCCTGTTTCCTTTGCTTTCTGCT... | TTTATGTTTATGCTAATACTATGATATTTGAGTTTTTTTCTTTATATTTTCCTGAAATGCCTTTTACTTAACCTTTTTGAAGATCACTTTTATAGATGAGAGAGTGTATATATGTGTATGTTTTATGTGTATGTTGGGGTTTTTTGTGTGTGGAGTCAATCTGAGAGTCTTTCTCTTTCAATGAAGGAGTTTTACCCATTAATAGTCATTGTTATAAGATAAATAATCAGGTCTTTTTTTTTCCTGCTATCTTTCTATTCTTAGTGTTTTCAGCTTAACGTTTTGTTTTGTTTTGTTTCCTGTTTCCTTTGCTTTCTGCT... | pathogenic | 148,112 |
Variant in INVS (inversin), chromosome 9, position 100253037—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Infantile_nephronophthisis', 'Nephronophthisis'] | TGCTCAAAATACGCTGTCTTTTTCATGGTTCAGGTCTCAACTTAAATGTCAGCTCATAACCACCAATCAAAAGTAGTCCCTCAGTGATTCTACATATCAAAATAGTTTTTATTACTTTAATTATACCAATTATCACTATATAATAACTTTATTGATGGGGAATTGTTTTGTTTTTGTTTTGTTTTGTTTTGTTTTTGTTTTGTTTTGCTTCCCTTCCTAGAATGTAACCTTATCTATTGTATTCTTTGCTAAACACCCAGCATTATAATACTACCCAGCCCAAAAATCTGCATCCAGGTTTGCTCTGTGGATCACCCTTT... | TGCTCAAAATACGCTGTCTTTTTCATGGTTCAGGTCTCAACTTAAATGTCAGCTCATAACCACCAATCAAAAGTAGTCCCTCAGTGATTCTACATATCAAAATAGTTTTTATTACTTTAATTATACCAATTATCACTATATAATAACTTTATTGATGGGGAATTGTTTTGTTTTTGTTTTGTTTTGTTTTGTTTTTGTTTTGTTTTGCTTCCCTTCCTAGAATGTAACCTTATCTATTGTATTCTTTGCTAAACACCCAGCATTATAATACTACCCAGCCCAAAAATCTGCATCCAGGTTTGCTCTGTGGATCACCCTTT... | pathogenic | 148,125 |
Chromosome 9, position 100253124, gene INVS (inversin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['INVS-related_disorder', 'Infantile_nephronophthisis', 'Nephronophthisis'] | TTCTACATATCAAAATAGTTTTTATTACTTTAATTATACCAATTATCACTATATAATAACTTTATTGATGGGGAATTGTTTTGTTTTTGTTTTGTTTTGTTTTGTTTTTGTTTTGTTTTGCTTCCCTTCCTAGAATGTAACCTTATCTATTGTATTCTTTGCTAAACACCCAGCATTATAATACTACCCAGCCCAAAAATCTGCATCCAGGTTTGCTCTGTGGATCACCCTTTATGAAAGAGACATTGTTCTAGGCCTTATAGAGCCATAATACTTAGAACTGGCCAAGGCCTCTAAAGTGTTATTGTGGCTAATTCAAA... | TTCTACATATCAAAATAGTTTTTATTACTTTAATTATACCAATTATCACTATATAATAACTTTATTGATGGGGAATTGTTTTGTTTTTGTTTTGTTTTGTTTTGTTTTTGTTTTGTTTTGCTTCCCTTCCTAGAATGTAACCTTATCTATTGTATTCTTTGCTAAACACCCAGCATTATAATACTACCCAGCCCAAAAATCTGCATCCAGGTTTGCTCTGTGGATCACCCTTTATGAAAGAGACATTGTTCTAGGCCTTATAGAGCCATAATACTTAGAACTGGCCAAGGCCTCTAAAGTGTTATTGTGGCTAATTCAAA... | pathogenic | 148,126 |
Does the variant on chromosome 9 at location 100273051 affecting gene INVS (inversin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Infantile_nephronophthisis', 'Nephronophthisis'] | AATATGACAATAATATTCATCGTTTCTAAATAATGTATTTATCAAAACAGTGATGTATATACACTGTACAAAATTTAAAAGGATGTTCACTGAAGACTCAATGTTCCTCCTACCCCTGCCTCTGAGACAGCTAGTTTTCCTCCCCCAGAGGCATCACTGTTAGCAGTTTCTTGGAAAACTTCTGAAAATACATTTTTCATAGATAAACATACAGGGATATATTTTTTATACAAATGGAACATGCCATAATAACTCCTGTTTCTTGCTTTTTTCTTTGTCTTCATTTGACATCCTGGAGATTGTTTCTTATTTATTCATAT... | AATATGACAATAATATTCATCGTTTCTAAATAATGTATTTATCAAAACAGTGATGTATATACACTGTACAAAATTTAAAAGGATGTTCACTGAAGACTCAATGTTCCTCCTACCCCTGCCTCTGAGACAGCTAGTTTTCCTCCCCCAGAGGCATCACTGTTAGCAGTTTCTTGGAAAACTTCTGAAAATACATTTTTCATAGATAAACATACAGGGATATATTTTTTATACAAATGGAACATGCCATAATAACTCCTGTTTCTTGCTTTTTTCTTTGTCTTCATTTGACATCCTGGAGATTGTTTCTTATTTATTCATAT... | pathogenic | 148,136 |
Is chromosome 9, position 100292304, gene INVS (inversin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | ACTCCTGCAGGTAATCAATTTCTTTAGTTTTTGCTTTATGTTTTCTATATTTCTTTTTCACAAATGAGCAGATATAGGTATATTTTCTTATATCCCTTTCTTTCTTTCTTTGAGACAGAGTTTCGCTCTTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACCGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCACATCGGTCAGGCTGGTCTCGAAC... | ACTCCTGCAGGTAATCAATTTCTTTAGTTTTTGCTTTATGTTTTCTATATTTCTTTTTCACAAATGAGCAGATATAGGTATATTTTCTTATATCCCTTTCTTTCTTTCTTTGAGACAGAGTTTCGCTCTTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACCGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCACATCGGTCAGGCTGGTCTCGAAC... | benign | 148,144 |
Mutation at chromosome 9, position 100292414, within INVS (inversin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Infantile_nephronophthisis', 'Nephronophthisis'] | TGAGACAGAGTTTCGCTCTTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACCGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCACATCGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACACCCAGCCCATCCCTTTCTTTCTTACATGAAGAGTAGTATAG... | TGAGACAGAGTTTCGCTCTTGTCGCCTAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACCGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCACATCGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACACCCAGCCCATCCCTTTCTTTCTTACATGAAGAGTAGTATAG... | pathogenic | 148,146 |
Regarding the variant at chromosome 9 and position 100292481, affecting gene INVS (inversin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Infantile_nephronophthisis', 'Nephronophthisis'] | TCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCACATCGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACACCCAGCCCATCCCTTTCTTTCTTACATGAAGAGTAGTATAGTTTAGATAGCTCTTTTGCACTTAAGAGTATTTTATTTTACATTATTGAGACATAGTCTCACTCTGTT... | TCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCATGCACCACCATGTCCAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCACATCGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACACCCAGCCCATCCCTTTCTTTCTTACATGAAGAGTAGTATAGTTTAGATAGCTCTTTTGCACTTAAGAGTATTTTATTTTACATTATTGAGACATAGTCTCACTCTGTT... | pathogenic | 148,148 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 9, position 100292700, gene INVS (inversin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Infantile_nephronophthisis', 'Nephronophthisis'] | CATCCCTTTCTTTCTTACATGAAGAGTAGTATAGTTTAGATAGCTCTTTTGCACTTAAGAGTATTTTATTTTACATTATTGAGACATAGTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCACAAACAGCTCACTGCACCCTCAACCTCCCAGCCTCAAGCGACCTTTCACCTCAGCCTTCTGAGTAGCTGGGACTACAGGCATGCACTACCATGTCTGGATAATTGTTTTTTTGTTTTATTTTTAGAAATGGGGTCTCACTATGTTGTCCCGGCTTGTCTCAGACTTGGCTCAAGCAATCCTCTTGCCTCAGCCTCC... | CATCCCTTTCTTTCTTACATGAAGAGTAGTATAGTTTAGATAGCTCTTTTGCACTTAAGAGTATTTTATTTTACATTATTGAGACATAGTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCACAAACAGCTCACTGCACCCTCAACCTCCCAGCCTCAAGCGACCTTTCACCTCAGCCTTCTGAGTAGCTGGGACTACAGGCATGCACTACCATGTCTGGATAATTGTTTTTTTGTTTTATTTTTAGAAATGGGGTCTCACTATGTTGTCCCGGCTTGTCTCAGACTTGGCTCAAGCAATCCTCTTGCCTCAGCCTCC... | pathogenic | 148,154 |
Determine whether the variant at chromosome 9, position 100292756, in gene INVS (inversin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Infantile_nephronophthisis', 'Nephronophthisis'] | AAGAGTATTTTATTTTACATTATTGAGACATAGTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCACAAACAGCTCACTGCACCCTCAACCTCCCAGCCTCAAGCGACCTTTCACCTCAGCCTTCTGAGTAGCTGGGACTACAGGCATGCACTACCATGTCTGGATAATTGTTTTTTTGTTTTATTTTTAGAAATGGGGTCTCACTATGTTGTCCCGGCTTGTCTCAGACTTGGCTCAAGCAATCCTCTTGCCTCAGCCTCCCAAGGTGCTGGGCCCACTGCACCCAGCCAGAACAGTTATTTTAAAGTCTGTTTCTG... | AAGAGTATTTTATTTTACATTATTGAGACATAGTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCACAAACAGCTCACTGCACCCTCAACCTCCCAGCCTCAAGCGACCTTTCACCTCAGCCTTCTGAGTAGCTGGGACTACAGGCATGCACTACCATGTCTGGATAATTGTTTTTTTGTTTTATTTTTAGAAATGGGGTCTCACTATGTTGTCCCGGCTTGTCTCAGACTTGGCTCAAGCAATCCTCTTGCCTCAGCCTCCCAAGGTGCTGGGCCCACTGCACCCAGCCAGAACAGTTATTTTAAAGTCTGTTTCTG... | pathogenic | 148,155 |
A mutation at chromosome position 101421898 on chromosome 9 in gene ALDOB (aldolase, fructose-bisphosphate B): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_fructosuria'] | TTCATGGTTAACTGATAAGAATCTGAGAGGTTTCTTTAGATACCTCTTAAAATATCTAAAGAATTCAGCGATGCTGAGTAGGATCTAGATAAAAACTATCTGGCAGAAAAGCTTTGTCTCACAAGGTGTTACCTACCTGCTTTTAGGACAGCTTGGCACATAGTAGGAGATGAAGTGCTTGATGATTGACTGAAATGTACAAGGAGAAATGTACAAGACTACACCACGGGTGGCAGAGATATTGAACACAGCCTGTCACCTTGCCCTGTAAGATCTCTGGCTGTGTATCCACTTTTTGAGCAAGAGACTTGAGTTCAGAA... | TTCATGGTTAACTGATAAGAATCTGAGAGGTTTCTTTAGATACCTCTTAAAATATCTAAAGAATTCAGCGATGCTGAGTAGGATCTAGATAAAAACTATCTGGCAGAAAAGCTTTGTCTCACAAGGTGTTACCTACCTGCTTTTAGGACAGCTTGGCACATAGTAGGAGATGAAGTGCTTGATGATTGACTGAAATGTACAAGGAGAAATGTACAAGACTACACCACGGGTGGCAGAGATATTGAACACAGCCTGTCACCTTGCCCTGTAAGATCTCTGGCTGTGTATCCACTTTTTGAGCAAGAGACTTGAGTTCAGAA... | pathogenic | 148,226 |
Is the genetic variant on chromosome 9, position 101424892, gene ALDOB (aldolase, fructose-bisphosphate B), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_fructosuria'] | TGCATATATAAAAAATCACAGATACCCCACAGATCTATACAATTATTGTGTGTAAATATAAAAGATCATGACAACAAAACCAAAATCACCTTCAGGTGATTCAGATCCACACTGGAGCTTGGGAAGCACCATCCTTGATGATAAACTCAGCTTCCCTTCTTCTGTGTGGATGTCCCTGATGACCTGCGCTTTCACAATCCCTCCATCATGTAAGCTAGGTCTCCTCAGTCCATCAGCCACACAGCAGCACTGCTGCACCCTGCTTTCCACAGTCAAGGTAAAGCACTACTTTGAAAATCTGATACCTCTCTTATGCCTGT... | TGCATATATAAAAAATCACAGATACCCCACAGATCTATACAATTATTGTGTGTAAATATAAAAGATCATGACAACAAAACCAAAATCACCTTCAGGTGATTCAGATCCACACTGGAGCTTGGGAAGCACCATCCTTGATGATAAACTCAGCTTCCCTTCTTCTGTGTGGATGTCCCTGATGACCTGCGCTTTCACAATCCCTCCATCATGTAAGCTAGGTCTCCTCAGTCCATCAGCCACACAGCAGCACTGCTGCACCCTGCTTTCCACAGTCAAGGTAAAGCACTACTTTGAAAATCTGATACCTCTCTTATGCCTGT... | pathogenic | 148,231 |
Classify the chromosome 9 variant at position 101424976 affecting gene ALDOB (aldolase, fructose-bisphosphate B) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_fructosuria'] | ATCACCTTCAGGTGATTCAGATCCACACTGGAGCTTGGGAAGCACCATCCTTGATGATAAACTCAGCTTCCCTTCTTCTGTGTGGATGTCCCTGATGACCTGCGCTTTCACAATCCCTCCATCATGTAAGCTAGGTCTCCTCAGTCCATCAGCCACACAGCAGCACTGCTGCACCCTGCTTTCCACAGTCAAGGTAAAGCACTACTTTGAAAATCTGATACCTCTCTTATGCCTGTGAGATGATGATTTAGCTTCCCTGGGGCCTTCCTTCCCTTTAGGGCCTCATCACCACACTTCTGACTACTCTTGATTCCTTGCCT... | ATCACCTTCAGGTGATTCAGATCCACACTGGAGCTTGGGAAGCACCATCCTTGATGATAAACTCAGCTTCCCTTCTTCTGTGTGGATGTCCCTGATGACCTGCGCTTTCACAATCCCTCCATCATGTAAGCTAGGTCTCCTCAGTCCATCAGCCACACAGCAGCACTGCTGCACCCTGCTTTCCACAGTCAAGGTAAAGCACTACTTTGAAAATCTGATACCTCTCTTATGCCTGTGAGATGATGATTTAGCTTCCCTGGGGCCTTCCTTCCCTTTAGGGCCTCATCACCACACTTCTGACTACTCTTGATTCCTTGCCT... | pathogenic | 148,234 |
Does the variant on chromosome 9 at location 101425490 affecting gene ALDOB (aldolase, fructose-bisphosphate B) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_fructosuria'] | GATGCTTGGCTATGTCTGGCCATAACGTCCGATCAATTTCCTAGCAAGTTCCTTTAACTGCTTTTCTACGCTTTCCGACTGTCAGTATTGAAATTTCCATTTCTTCATCATTCTCAGCAGATACCCTCAACTGTAATCAGTCATCAACTGCTACATCTCTTGACTTATATAGAGCTGATTCCAACTGTATTCTCTTTTCTGCCTCTTCCCTCCTTTTTGTCTTACACCAGCTGTGCCACCTATGCTTAATATTGAGTCTCATGCAGTCCTGCTCCTCTAAGTTCTTCTCCACTCAATTATCCCCACTCTCCTCATCTTTA... | GATGCTTGGCTATGTCTGGCCATAACGTCCGATCAATTTCCTAGCAAGTTCCTTTAACTGCTTTTCTACGCTTTCCGACTGTCAGTATTGAAATTTCCATTTCTTCATCATTCTCAGCAGATACCCTCAACTGTAATCAGTCATCAACTGCTACATCTCTTGACTTATATAGAGCTGATTCCAACTGTATTCTCTTTTCTGCCTCTTCCCTCCTTTTTGTCTTACACCAGCTGTGCCACCTATGCTTAATATTGAGTCTCATGCAGTCCTGCTCCTCTAAGTTCTTCTCCACTCAATTATCCCCACTCTCCTCATCTTTA... | pathogenic | 148,241 |
Is the genetic change at chromosome 9, position 101425578, within gene ALDOB (aldolase, fructose-bisphosphate B) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_fructosuria'] | TGAAATTTCCATTTCTTCATCATTCTCAGCAGATACCCTCAACTGTAATCAGTCATCAACTGCTACATCTCTTGACTTATATAGAGCTGATTCCAACTGTATTCTCTTTTCTGCCTCTTCCCTCCTTTTTGTCTTACACCAGCTGTGCCACCTATGCTTAATATTGAGTCTCATGCAGTCCTGCTCCTCTAAGTTCTTCTCCACTCAATTATCCCCACTCTCCTCATCTTTACTGTCTCCTCTGGCTCCTCTTTCTTTACATTTAAACATGCCAAGCTCTCTCCTATTTGGCTAAACTCCAAGCTTCCTGGAGGACATGG... | TGAAATTTCCATTTCTTCATCATTCTCAGCAGATACCCTCAACTGTAATCAGTCATCAACTGCTACATCTCTTGACTTATATAGAGCTGATTCCAACTGTATTCTCTTTTCTGCCTCTTCCCTCCTTTTTGTCTTACACCAGCTGTGCCACCTATGCTTAATATTGAGTCTCATGCAGTCCTGCTCCTCTAAGTTCTTCTCCACTCAATTATCCCCACTCTCCTCATCTTTACTGTCTCCTCTGGCTCCTCTTTCTTTACATTTAAACATGCCAAGCTCTCTCCTATTTGGCTAAACTCCAAGCTTCCTGGAGGACATGG... | pathogenic | 148,243 |
Benign or pathogenic: chromosome 9, position 101427601, gene ALDOB (aldolase, fructose-bisphosphate B) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_fructosuria'] | CATGTTGGGCTTTAGCAGGGTGCCCTCCAGGTAAACATGATGGTCATTCAGGGCCTTGTAGACAGCAGCCAGGACCTGAAGGACAAGAGGTCCCACCAGGTGAAACTCAAAGCTAGTCATAGAGCCACTTGACCTTGGCACATTTACACTGCAGGGAGGCAGGATGAAGGAATTCTTATTTGTTGCTTGGCAAAAGCTTCTGAACCAATCTCCAGGCCTCATTAGACCAATGTGTTGCAATCCATAGCCACTGAGCACAACTAAACTGGCCTGTCTTCATCACCCCTAATCTAGCTTCTCATTCACTGCATGAATGACAG... | CATGTTGGGCTTTAGCAGGGTGCCCTCCAGGTAAACATGATGGTCATTCAGGGCCTTGTAGACAGCAGCCAGGACCTGAAGGACAAGAGGTCCCACCAGGTGAAACTCAAAGCTAGTCATAGAGCCACTTGACCTTGGCACATTTACACTGCAGGGAGGCAGGATGAAGGAATTCTTATTTGTTGCTTGGCAAAAGCTTCTGAACCAATCTCCAGGCCTCATTAGACCAATGTGTTGCAATCCATAGCCACTGAGCACAACTAAACTGGCCTGTCTTCATCACCCCTAATCTAGCTTCTCATTCACTGCATGAATGACAG... | pathogenic | 148,258 |
Does the variant impacting ALDOB (aldolase, fructose-bisphosphate B) on chromosome 9, position 101428484, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['ALDOB-related_disorder', 'Hereditary_fructosuria', 'Inborn_genetic_diseases'] | CTATGCTATCCATCCTAAAGGCTACTTCAGATATAACAGCTGTTATATGTTAAGTAACAGCTGTTACCTAAAACTAAGATTTTTCAACTAGAATTGGGGCCTTCATATTTAAAACTTACCTTCTCAGTAACATACTGGCAGTGTTCCAGGTCATGGTCTCCATCAGGAATTACCTCTGGTTCAACAATAGGTACCAGTCCATTCTAAAAAGGAAAATCAAGGAAGCAAAAGTGAAGCTGTGCTCACTGTTATCCTTTCCTTAGGAGGAGATTCAACAGTTGCAATTGGTATAAATTGAAGCCATTATGGAGAAATACTAC... | CTATGCTATCCATCCTAAAGGCTACTTCAGATATAACAGCTGTTATATGTTAAGTAACAGCTGTTACCTAAAACTAAGATTTTTCAACTAGAATTGGGGCCTTCATATTTAAAACTTACCTTCTCAGTAACATACTGGCAGTGTTCCAGGTCATGGTCTCCATCAGGAATTACCTCTGGTTCAACAATAGGTACCAGTCCATTCTAAAAAGGAAAATCAAGGAAGCAAAAGTGAAGCTGTGCTCACTGTTATCCTTTCCTTAGGAGGAGATTCAACAGTTGCAATTGGTATAAATTGAAGCCATTATGGAGAAATACTAC... | pathogenic | 148,264 |
The chromosome 9, position 101429776 genetic variant in gene ALDOB (aldolase, fructose-bisphosphate B): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_fructosuria'] | TTGCTTAGCTTTCAATCCACTGTGCTTGAGGATTGAAAACAGCCAAGCATATCAGCATTAATCACAACACTGAACCAGAAGACTTAGATTTAATAAATAGTGTTTTGACATACATACTATCTACTCCATATATAGAATAGAAGAAACCAATAGTTAATATGATACTCATTTTACAAAGGTGGAAACTGAAGCTCCTAATGGTTAAGCAACTTTACCAAGTTTGAATTGCTCAAGAGTGACAGAGCTGGGATTCAAATTCTGCTTAGCTAACCCAATGTTGTGAGTTAATGCTTGTCTACTTGGGCAGAAGTACCTTGCAA... | TTGCTTAGCTTTCAATCCACTGTGCTTGAGGATTGAAAACAGCCAAGCATATCAGCATTAATCACAACACTGAACCAGAAGACTTAGATTTAATAAATAGTGTTTTGACATACATACTATCTACTCCATATATAGAATAGAAGAAACCAATAGTTAATATGATACTCATTTTACAAAGGTGGAAACTGAAGCTCCTAATGGTTAAGCAACTTTACCAAGTTTGAATTGCTCAAGAGTGACAGAGCTGGGATTCAAATTCTGCTTAGCTAACCCAATGTTGTGAGTTAATGCTTGTCTACTTGGGCAGAAGTACCTTGCAA... | pathogenic | 148,271 |
Is chromosome 9, position 101429828, gene ALDOB (aldolase, fructose-bisphosphate B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_fructosuria'] | CAGCATTAATCACAACACTGAACCAGAAGACTTAGATTTAATAAATAGTGTTTTGACATACATACTATCTACTCCATATATAGAATAGAAGAAACCAATAGTTAATATGATACTCATTTTACAAAGGTGGAAACTGAAGCTCCTAATGGTTAAGCAACTTTACCAAGTTTGAATTGCTCAAGAGTGACAGAGCTGGGATTCAAATTCTGCTTAGCTAACCCAATGTTGTGAGTTAATGCTTGTCTACTTGGGCAGAAGTACCTTGCAAAATTATCTAGGTAGCATGTGATAGAACCAGGATTCAAACCCAGGTGTGTCTG... | CAGCATTAATCACAACACTGAACCAGAAGACTTAGATTTAATAAATAGTGTTTTGACATACATACTATCTACTCCATATATAGAATAGAAGAAACCAATAGTTAATATGATACTCATTTTACAAAGGTGGAAACTGAAGCTCCTAATGGTTAAGCAACTTTACCAAGTTTGAATTGCTCAAGAGTGACAGAGCTGGGATTCAAATTCTGCTTAGCTAACCCAATGTTGTGAGTTAATGCTTGTCTACTTGGGCAGAAGTACCTTGCAAAATTATCTAGGTAGCATGTGATAGAACCAGGATTCAAACCCAGGTGTGTCTG... | pathogenic | 148,273 |
Located at chromosome 9 position 101429963, the variant affecting gene ALDOB (aldolase, fructose-bisphosphate B)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_fructosuria'] | GAAGCTCCTAATGGTTAAGCAACTTTACCAAGTTTGAATTGCTCAAGAGTGACAGAGCTGGGATTCAAATTCTGCTTAGCTAACCCAATGTTGTGAGTTAATGCTTGTCTACTTGGGCAGAAGTACCTTGCAAAATTATCTAGGTAGCATGTGATAGAACCAGGATTCAAACCCAGGTGTGTCTGACCTCAAAGTGTGGGGACTTTCCACTCTACTGCTGCTAATTTTTTTCTAAAAATAATACTTCCGGGTGCAGAGTTTAATCTTCTTTGTCCAAGGTACTGTGGTAAGCACCTTATGTACATTGTCTAAGTTAATCC... | GAAGCTCCTAATGGTTAAGCAACTTTACCAAGTTTGAATTGCTCAAGAGTGACAGAGCTGGGATTCAAATTCTGCTTAGCTAACCCAATGTTGTGAGTTAATGCTTGTCTACTTGGGCAGAAGTACCTTGCAAAATTATCTAGGTAGCATGTGATAGAACCAGGATTCAAACCCAGGTGTGTCTGACCTCAAAGTGTGGGGACTTTCCACTCTACTGCTGCTAATTTTTTTCTAAAAATAATACTTCCGGGTGCAGAGTTTAATCTTCTTTGTCCAAGGTACTGTGGTAAGCACCTTATGTACATTGTCTAAGTTAATCC... | pathogenic | 148,276 |
A genetic variant on chromosome 9, position 101430844, affects the gene ALDOB (aldolase, fructose-bisphosphate B). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_fructosuria'] | CTACATAGCAAAGGCAAAAGTCATGAGCTTGAGAATTAGCCTAAACTGGCTCTGACCTTGCCTTGTTGTGTGGGCAAGTTATGTTACTCTTCGTAGTTCAGTTTTCTCACTTCATCTCTAAATAAGGGTAATAATTGAGTCTACTACCAGAGGTTATGAGAATTAAATGAATGCTTGGAATGGTAAAAACTCTTATTCAATGGATACTAGTTTTCACTTTTGAGAAGTTTATGCACTATTGGAAGACCTAGTTATAAGATAGAATAGTAAATGCTTCAATAATTATGATAGTTACCATTAACAATAATTACGCAATATAA... | CTACATAGCAAAGGCAAAAGTCATGAGCTTGAGAATTAGCCTAAACTGGCTCTGACCTTGCCTTGTTGTGTGGGCAAGTTATGTTACTCTTCGTAGTTCAGTTTTCTCACTTCATCTCTAAATAAGGGTAATAATTGAGTCTACTACCAGAGGTTATGAGAATTAAATGAATGCTTGGAATGGTAAAAACTCTTATTCAATGGATACTAGTTTTCACTTTTGAGAAGTTTATGCACTATTGGAAGACCTAGTTATAAGATAGAATAGTAAATGCTTCAATAATTATGATAGTTACCATTAACAATAATTACGCAATATAA... | pathogenic | 148,279 |
The genetic variant at chromosome 9, position 104782848, affecting gene ABCA1: benign or pathogenic? Disease name(s) if pathogenic? | benign | GTTACTCAGTATCTTAACCAACATGAAAATACAAAACAACCTTTTATTTTCAAGTAGTCCCCTCAGTTCTCTTTTATGATTAAGGGAACATTTGAATCTTTTCTAAAGTTTTTCCTTTTGATCCAAATCACTTCCCCTCTACTTTTCTAATGGCTTTATAACCCTTCAACAGTAGGTGGTGCCACAAATGCACAAAAGTAAATTTCTGTAGACCAACAGAACTGTCACAGCTTTATTTTGTGACTCATTATATTACAACATAGAAATATGCATTTTAATACTTCATATAAAGTTATTGACATACAAAATTTTTTTTCTTT... | GTTACTCAGTATCTTAACCAACATGAAAATACAAAACAACCTTTTATTTTCAAGTAGTCCCCTCAGTTCTCTTTTATGATTAAGGGAACATTTGAATCTTTTCTAAAGTTTTTCCTTTTGATCCAAATCACTTCCCCTCTACTTTTCTAATGGCTTTATAACCCTTCAACAGTAGGTGGTGCCACAAATGCACAAAAGTAAATTTCTGTAGACCAACAGAACTGTCACAGCTTTATTTTGTGACTCATTATATTACAACATAGAAATATGCATTTTAATACTTCATATAAAGTTATTGACATACAAAATTTTTTTTCTTT... | benign | 148,308 |
Gene ABCA1 variant at chromosome position 104784298 on chromosome 9: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AAATATGCCTTCATTACTTATATTTAAAATCAATATTGACTTTAACTTCTAAAACAATCATTTTTTTCTTTTTCAGCAGTGGGTTATATAATATTCTGTAAATTTAAAAAATATAGAAAGATTAATTTGAAATCTGAAGTCTTACACCTTTAGCGTTAATATTCAAATTCTGGAAAAAGTGGAAGAAGTTAGTAATGATATTGAAAGATCACTTGAACTTCCCCAAACAATAGTTCTCTCATATTTTTCTTTTCTCTCAAGACAGTTAACAGTAAGTATTAGTGAAACAGTATTTTTACAAATGTTTACTGACTAGAAAA... | AAATATGCCTTCATTACTTATATTTAAAATCAATATTGACTTTAACTTCTAAAACAATCATTTTTTTCTTTTTCAGCAGTGGGTTATATAATATTCTGTAAATTTAAAAAATATAGAAAGATTAATTTGAAATCTGAAGTCTTACACCTTTAGCGTTAATATTCAAATTCTGGAAAAAGTGGAAGAAGTTAGTAATGATATTGAAAGATCACTTGAACTTCCCCAAACAATAGTTCTCTCATATTTTTCTTTTCTCTCAAGACAGTTAACAGTAAGTATTAGTGAAACAGTATTTTTACAAATGTTTACTGACTAGAAAA... | benign | 148,313 |
Does the chromosome 9 mutation at position 104792909 within gene ABCA1 (ATP binding cassette subfamily A member 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TTCTTTAAATAAATTAAAAACAAAGTCTTTGCAGCAAAATACAAGCCACTTCTTTTCTCACCTATTTTTGTTAAGGAAAGCATCTCCTCTGGTAACAGTGGTATCTCCTGTTAACATCTTGAAAGTTGATGATTTTCCAGCCCCATTAACTCCCAGGAGCCCAAAGCACTGAAAAGGAAAGATTAAGTTGTATAAGCAAACTCTAAAAACATGAATATAAATGCCCCTAACACGTAACTACCTCAAACCTTCAATTCTTAAATATCAGAGAAGAATCAAATATTTTCTTGGTTTTAACACATCGTATAGATATTTAAATA... | TTCTTTAAATAAATTAAAAACAAAGTCTTTGCAGCAAAATACAAGCCACTTCTTTTCTCACCTATTTTTGTTAAGGAAAGCATCTCCTCTGGTAACAGTGGTATCTCCTGTTAACATCTTGAAAGTTGATGATTTTCCAGCCCCATTAACTCCCAGGAGCCCAAAGCACTGAAAAGGAAAGATTAAGTTGTATAAGCAAACTCTAAAAACATGAATATAAATGCCCCTAACACGTAACTACCTCAAACCTTCAATTCTTAAATATCAGAGAAGAATCAAATATTTTCTTGGTTTTAACACATCGTATAGATATTTAAATA... | benign | 148,345 |
A genetic variant on chromosome 9, position 104794512, affects the gene ABCA1 (ATP binding cassette subfamily A member 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | ACTCAAAATCAACCATTTATTCTCTCTACCTCAGTTTTGACTAGATATACAATATTAGTATGTTTTAATAACTAACACATAAATGTAAGCATATAAAACCAATGTATTCGAGAATGGGAATTCATATCACAAAAGAATTCTCAGTAAGAATTCTTTAAGAAGTCTCCATGGTGTTTTTAAAATAAAATTGACAGAACCTTGGTATAGATGTACATTTTGGGAACACATGCCCTTTTATTAAGCAAGTCAGCAAACTGCTGGGTTACAGCACATAAAGCTGAAAAAAACTGAAGATGAGCTATTGTAACCTGTACTCTCTC... | ACTCAAAATCAACCATTTATTCTCTCTACCTCAGTTTTGACTAGATATACAATATTAGTATGTTTTAATAACTAACACATAAATGTAAGCATATAAAACCAATGTATTCGAGAATGGGAATTCATATCACAAAAGAATTCTCAGTAAGAATTCTTTAAGAAGTCTCCATGGTGTTTTTAAAATAAAATTGACAGAACCTTGGTATAGATGTACATTTTGGGAACACATGCCCTTTTATTAAGCAAGTCAGCAAACTGCTGGGTTACAGCACATAAAGCTGAAAAAAACTGAAGATGAGCTATTGTAACCTGTACTCTCTC... | benign | 148,357 |
Is the genetic mutation found on chromosome 9 at position 104794512, within the gene ABCA1 (ATP binding cassette subfamily A member 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ACTCAAAATCAACCATTTATTCTCTCTACCTCAGTTTTGACTAGATATACAATATTAGTATGTTTTAATAACTAACACATAAATGTAAGCATATAAAACCAATGTATTCGAGAATGGGAATTCATATCACAAAAGAATTCTCAGTAAGAATTCTTTAAGAAGTCTCCATGGTGTTTTTAAAATAAAATTGACAGAACCTTGGTATAGATGTACATTTTGGGAACACATGCCCTTTTATTAAGCAAGTCAGCAAACTGCTGGGTTACAGCACATAAAGCTGAAAAAAACTGAAGATGAGCTATTGTAACCTGTACTCTCTC... | ACTCAAAATCAACCATTTATTCTCTCTACCTCAGTTTTGACTAGATATACAATATTAGTATGTTTTAATAACTAACACATAAATGTAAGCATATAAAACCAATGTATTCGAGAATGGGAATTCATATCACAAAAGAATTCTCAGTAAGAATTCTTTAAGAAGTCTCCATGGTGTTTTTAAAATAAAATTGACAGAACCTTGGTATAGATGTACATTTTGGGAACACATGCCCTTTTATTAAGCAAGTCAGCAAACTGCTGGGTTACAGCACATAAAGCTGAAAAAAACTGAAGATGAGCTATTGTAACCTGTACTCTCTC... | benign | 148,359 |
Mutation found at chromosome 9 position 104794512, gene ABCA1 (ATP binding cassette subfamily A member 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | ACTCAAAATCAACCATTTATTCTCTCTACCTCAGTTTTGACTAGATATACAATATTAGTATGTTTTAATAACTAACACATAAATGTAAGCATATAAAACCAATGTATTCGAGAATGGGAATTCATATCACAAAAGAATTCTCAGTAAGAATTCTTTAAGAAGTCTCCATGGTGTTTTTAAAATAAAATTGACAGAACCTTGGTATAGATGTACATTTTGGGAACACATGCCCTTTTATTAAGCAAGTCAGCAAACTGCTGGGTTACAGCACATAAAGCTGAAAAAAACTGAAGATGAGCTATTGTAACCTGTACTCTCTC... | ACTCAAAATCAACCATTTATTCTCTCTACCTCAGTTTTGACTAGATATACAATATTAGTATGTTTTAATAACTAACACATAAATGTAAGCATATAAAACCAATGTATTCGAGAATGGGAATTCATATCACAAAAGAATTCTCAGTAAGAATTCTTTAAGAAGTCTCCATGGTGTTTTTAAAATAAAATTGACAGAACCTTGGTATAGATGTACATTTTGGGAACACATGCCCTTTTATTAAGCAAGTCAGCAAACTGCTGGGTTACAGCACATAAAGCTGAAAAAAACTGAAGATGAGCTATTGTAACCTGTACTCTCTC... | benign | 148,360 |
A genetic alteration at chromosome 9, position 104840532, in gene ABCA1 (ATP binding cassette subfamily A member 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | GCGGGCACCTGCAGTTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGCAACGGAGCGAGACTCCCTCTCAAAAAAAAAAAAAAAAATTCTCTTTAATTAACACAAACTAGTATATGTACACTTAACAAAAACCCAAATACAAAAGTTGTAACAGACAAATGGGTTTGGTTATCCAGCAGGATCCCTGATTTTTAAAAATTCATTCTAAGTTTTTCAGGGATTTTTAGATACCAAGTATCTTCTATATGCTGGAAAG... | GCGGGCACCTGCAGTTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGGCAACGGAGCGAGACTCCCTCTCAAAAAAAAAAAAAAAAATTCTCTTTAATTAACACAAACTAGTATATGTACACTTAACAAAAACCCAAATACAAAAGTTGTAACAGACAAATGGGTTTGGTTATCCAGCAGGATCCCTGATTTTTAAAAATTCATTCTAAGTTTTTCAGGGATTTTTAGATACCAAGTATCTTCTATATGCTGGAAAG... | benign | 148,553 |
Variant at chromosome position 104883161, chromosome 9, gene ABCA1 (ATP binding cassette subfamily A member 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CACTCCAGCCTGGTGACAGAGCGAGGCTCTGTCTTAAAAGAAAAGAAAAGAAAAGAAAAAGGAAATTAGTGTTGTTTTAAGGCAGTCTCCTCCACTAAGATCAGAAAGTCTGCTTGACAACTTACCCCCATCAGCCAGTCTATTTCAACTGCTGCATAAATTGCAAGGCAGAAGAACAAGGCCAGGTGCTCAGAAATGCATCACTGTCTTAGAAAGAATACTGGCTCTCATTTATTGGGAATCTACTATGTGCCAGATACTACATTAGGTTTTATAGTTTACATTTCAAGTTAGCTGCTATTTTATAGTTGAGGAAAGTA... | CACTCCAGCCTGGTGACAGAGCGAGGCTCTGTCTTAAAAGAAAAGAAAAGAAAAGAAAAAGGAAATTAGTGTTGTTTTAAGGCAGTCTCCTCCACTAAGATCAGAAAGTCTGCTTGACAACTTACCCCCATCAGCCAGTCTATTTCAACTGCTGCATAAATTGCAAGGCAGAAGAACAAGGCCAGGTGCTCAGAAATGCATCACTGTCTTAGAAAGAATACTGGCTCTCATTTATTGGGAATCTACTATGTGCCAGATACTACATTAGGTTTTATAGTTTACATTTCAAGTTAGCTGCTATTTTATAGTTGAGGAAAGTA... | benign | 148,578 |
Determine whether the variant at chromosome 9, position 104903754, in gene ABCA1 (ATP binding cassette subfamily A member 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TTAGGCACATTGAGTTAGAGTGCCAGCTCCAAAGTCAGATTATCTGGATTTGAACCCTACCTGTGCTCCTTGTTAGTGGTGTGGACCTCAGACAAGTTACTTAACCTCTCTGAGTAGCACGTTCCCCAGCTACAACATGTGGAAATAACAGTACATCGCGGGGCCTTAAAAGGAATAAATCTAGTTAATAATGCCTAATCAGTTAGTGCCTCACACATGGAAGCTCATTCTAAGTGTTTGCTTTTATTTTATTAATATAATATTATCTATTATACTTTACAATTATTATTAAAACAGATAGGATCCACAGATTCCAGTCC... | TTAGGCACATTGAGTTAGAGTGCCAGCTCCAAAGTCAGATTATCTGGATTTGAACCCTACCTGTGCTCCTTGTTAGTGGTGTGGACCTCAGACAAGTTACTTAACCTCTCTGAGTAGCACGTTCCCCAGCTACAACATGTGGAAATAACAGTACATCGCGGGGCCTTAAAAGGAATAAATCTAGTTAATAATGCCTAATCAGTTAGTGCCTCACACATGGAAGCTCATTCTAAGTGTTTGCTTTTATTTTATTAATATAATATTATCTATTATACTTTACAATTATTATTAAAACAGATAGGATCCACAGATTCCAGTCC... | benign | 148,593 |
Determine if the mutation at chromosome 9, position 105575073 in gene FKTN (fukutin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4', 'Muscular_dystrophy-dystroglycanopathy_(congenital_without_intellectual_disability),_type_B4', 'Walker-Warburg_congenital_muscular_dystrophy'] | AGGAGTTCGTGACCAGCCTGACCACCACAGAAAAACCCCGTCTAAACTAAATATACAAAAATTAGCCGAGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTCGGGAGGCTGAGATAGGAGAATTGCTTGAACCCAGGAGGTGAAGGTTGCAGTGAACTGAGATCGTGCCACTGCACTCCATCCAGCCTGAGTGACAGAGGGAGACTCTGTCTCAAAAAAAAAAATGCTTAATTGTAGTTCTGAAAATAGAGAATTCAATGTTATAACAGAAAAAATATTTAAGAAAACCTTCTGCAAAGAAAAGACATCTTTAGGTCAG... | AGGAGTTCGTGACCAGCCTGACCACCACAGAAAAACCCCGTCTAAACTAAATATACAAAAATTAGCCGAGTGTGGTGGCAGGCACCTGTAATCCCAGTTACTCGGGAGGCTGAGATAGGAGAATTGCTTGAACCCAGGAGGTGAAGGTTGCAGTGAACTGAGATCGTGCCACTGCACTCCATCCAGCCTGAGTGACAGAGGGAGACTCTGTCTCAAAAAAAAAAATGCTTAATTGTAGTTCTGAAAATAGAGAATTCAATGTTATAACAGAAAAAATATTTAAGAAAACCTTCTGCAAAGAAAAGACATCTTTAGGTCAG... | pathogenic | 148,605 |
Gene FKTN (fukutin) variant at chromosome position 105601153 on chromosome 9: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Walker-Warburg_congenital_muscular_dystrophy'] | ACGACTCAGTAATAGATTTTTTGTTCATGCCTTTCATCAAGTTGAGGATGTATTTTATTCCTGGTTTGCTGAAAGTTTTAAATCATGAATAGATACTGAATTTTGTCAAATGCTTTTTTCTATATTGAAATTATCATAGTTTTTCACTTTTTTCTGTTGATTTGTCAAATTTTATTGATTGATTTTCAAATGCTAAAGTAAGCTTTCATTCCTAGGATAAATACTACTTGGTCATGATATTTACTTTCCTTTTTTATCTTTTTTTAGTTACTGGAATTGATTTTCTAATATTTTATTAAGTATTTTTGCATCTGTGTTCA... | ACGACTCAGTAATAGATTTTTTGTTCATGCCTTTCATCAAGTTGAGGATGTATTTTATTCCTGGTTTGCTGAAAGTTTTAAATCATGAATAGATACTGAATTTTGTCAAATGCTTTTTTCTATATTGAAATTATCATAGTTTTTCACTTTTTTCTGTTGATTTGTCAAATTTTATTGATTGATTTTCAAATGCTAAAGTAAGCTTTCATTCCTAGGATAAATACTACTTGGTCATGATATTTACTTTCCTTTTTTATCTTTTTTTAGTTACTGGAATTGATTTTCTAATATTTTATTAAGTATTTTTGCATCTGTGTTCA... | pathogenic | 148,621 |
A genetic alteration at chromosome 9, position 105601306, in gene FKTN (fukutin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2M', 'Dilated_cardiomyopathy_1X', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglyc... | CTGTTGATTTGTCAAATTTTATTGATTGATTTTCAAATGCTAAAGTAAGCTTTCATTCCTAGGATAAATACTACTTGGTCATGATATTTACTTTCCTTTTTTATCTTTTTTTAGTTACTGGAATTGATTTTCTAATATTTTATTAAGTATTTTTGCATCTGTGTTCATGAGGGATGGTGGACTATACTTTTTTTTGTAAGGTCTTTGTCAGGTTTTGCTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCTCTGTCGCCCAGGCTGGAGTGCAGCCATGTGATCTCGGCTCACTGCAACCTCCACCTTGTGATCTCGGCTC... | CTGTTGATTTGTCAAATTTTATTGATTGATTTTCAAATGCTAAAGTAAGCTTTCATTCCTAGGATAAATACTACTTGGTCATGATATTTACTTTCCTTTTTTATCTTTTTTTAGTTACTGGAATTGATTTTCTAATATTTTATTAAGTATTTTTGCATCTGTGTTCATGAGGGATGGTGGACTATACTTTTTTTTGTAAGGTCTTTGTCAGGTTTTGCTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCTCTGTCGCCCAGGCTGGAGTGCAGCCATGTGATCTCGGCTCACTGCAACCTCCACCTTGTGATCTCGGCTC... | pathogenic | 148,624 |
Variant on chromosome 9, at position 105601306, affecting FKTN (fukutin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2M', 'Dilated_cardiomyopathy_1X', 'FKTN-related_disorder', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4', 'Muscular_dystrophy-dystroglycanopathy_(congenital_without_intellectual_disability),_type_B4', 'W... | CTGTTGATTTGTCAAATTTTATTGATTGATTTTCAAATGCTAAAGTAAGCTTTCATTCCTAGGATAAATACTACTTGGTCATGATATTTACTTTCCTTTTTTATCTTTTTTTAGTTACTGGAATTGATTTTCTAATATTTTATTAAGTATTTTTGCATCTGTGTTCATGAGGGATGGTGGACTATACTTTTTTTTGTAAGGTCTTTGTCAGGTTTTGCTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCTCTGTCGCCCAGGCTGGAGTGCAGCCATGTGATCTCGGCTCACTGCAACCTCCACCTTGTGATCTCGGCTC... | CTGTTGATTTGTCAAATTTTATTGATTGATTTTCAAATGCTAAAGTAAGCTTTCATTCCTAGGATAAATACTACTTGGTCATGATATTTACTTTCCTTTTTTATCTTTTTTTAGTTACTGGAATTGATTTTCTAATATTTTATTAAGTATTTTTGCATCTGTGTTCATGAGGGATGGTGGACTATACTTTTTTTTGTAAGGTCTTTGTCAGGTTTTGCTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCTCTGTCGCCCAGGCTGGAGTGCAGCCATGTGATCTCGGCTCACTGCAACCTCCACCTTGTGATCTCGGCTC... | pathogenic | 148,625 |
Variant chromosome 9, position 105604242, gene FKTN (fukutin): benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2M', 'Dilated_cardiomyopathy_1X'] | TTATAAACAAGTTTTTCACTATGTGATTATGTGACAGGACATTTGAAATTACATAGTACACAGGATAGATTTTCATATTTTGGATTGTAGGATATCTAATGTTCTTGGCCTAGGACTCTAAATGCCAGTTTGTCATTATGATAAACCAAAAATATCCCCCCAAATTTCTGAAGTATCTGTTGGGTACAGTCCCACTTGCCTTGAGAACCACTATTTTAGAAGAAGGGGAGTATGCCACCATTGGCAAAACTGATACTACCATAGTCAAGAGGAAGAAGCAAAAGCTCAGCCATACCCAGAATCAGCACATGGGTTCAAGT... | TTATAAACAAGTTTTTCACTATGTGATTATGTGACAGGACATTTGAAATTACATAGTACACAGGATAGATTTTCATATTTTGGATTGTAGGATATCTAATGTTCTTGGCCTAGGACTCTAAATGCCAGTTTGTCATTATGATAAACCAAAAATATCCCCCCAAATTTCTGAAGTATCTGTTGGGTACAGTCCCACTTGCCTTGAGAACCACTATTTTAGAAGAAGGGGAGTATGCCACCATTGGCAAAACTGATACTACCATAGTCAAGAGGAAGAAGCAAAAGCTCAGCCATACCCAGAATCAGCACATGGGTTCAAGT... | pathogenic | 148,633 |
Chromosome 9, position 105604271, gene FKTN (fukutin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4', 'Walker-Warburg_congenital_muscular_dystrophy'] | TGTGACAGGACATTTGAAATTACATAGTACACAGGATAGATTTTCATATTTTGGATTGTAGGATATCTAATGTTCTTGGCCTAGGACTCTAAATGCCAGTTTGTCATTATGATAAACCAAAAATATCCCCCCAAATTTCTGAAGTATCTGTTGGGTACAGTCCCACTTGCCTTGAGAACCACTATTTTAGAAGAAGGGGAGTATGCCACCATTGGCAAAACTGATACTACCATAGTCAAGAGGAAGAAGCAAAAGCTCAGCCATACCCAGAATCAGCACATGGGTTCAAGTTTATTCTTCGTTTGTTTTTGTTTGTTTGT... | TGTGACAGGACATTTGAAATTACATAGTACACAGGATAGATTTTCATATTTTGGATTGTAGGATATCTAATGTTCTTGGCCTAGGACTCTAAATGCCAGTTTGTCATTATGATAAACCAAAAATATCCCCCCAAATTTCTGAAGTATCTGTTGGGTACAGTCCCACTTGCCTTGAGAACCACTATTTTAGAAGAAGGGGAGTATGCCACCATTGGCAAAACTGATACTACCATAGTCAAGAGGAAGAAGCAAAAGCTCAGCCATACCCAGAATCAGCACATGGGTTCAAGTTTATTCTTCGTTTGTTTTTGTTTGTTTGT... | pathogenic | 148,635 |
Regarding the variant at chromosome 9 and position 105604298, affecting gene FKTN (fukutin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Dilated_cardiomyopathy_1X', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4', 'Walker-Warburg_congenital_muscular_dystrophy'] | TACACAGGATAGATTTTCATATTTTGGATTGTAGGATATCTAATGTTCTTGGCCTAGGACTCTAAATGCCAGTTTGTCATTATGATAAACCAAAAATATCCCCCCAAATTTCTGAAGTATCTGTTGGGTACAGTCCCACTTGCCTTGAGAACCACTATTTTAGAAGAAGGGGAGTATGCCACCATTGGCAAAACTGATACTACCATAGTCAAGAGGAAGAAGCAAAAGCTCAGCCATACCCAGAATCAGCACATGGGTTCAAGTTTATTCTTCGTTTGTTTTTGTTTGTTTGTGTTGGGTTTTTTGTTTTTGTTTTTGTT... | TACACAGGATAGATTTTCATATTTTGGATTGTAGGATATCTAATGTTCTTGGCCTAGGACTCTAAATGCCAGTTTGTCATTATGATAAACCAAAAATATCCCCCCAAATTTCTGAAGTATCTGTTGGGTACAGTCCCACTTGCCTTGAGAACCACTATTTTAGAAGAAGGGGAGTATGCCACCATTGGCAAAACTGATACTACCATAGTCAAGAGGAAGAAGCAAAAGCTCAGCCATACCCAGAATCAGCACATGGGTTCAAGTTTATTCTTCGTTTGTTTTTGTTTGTTTGTGTTGGGTTTTTTGTTTTTGTTTTTGTT... | pathogenic | 148,638 |
Assess the variant on chromosome 9, position 105604299, impacting FKTN (fukutin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2M', 'Dilated_cardiomyopathy_1X', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1', 'Muscular_dystrophy-dystroglyc... | ACACAGGATAGATTTTCATATTTTGGATTGTAGGATATCTAATGTTCTTGGCCTAGGACTCTAAATGCCAGTTTGTCATTATGATAAACCAAAAATATCCCCCCAAATTTCTGAAGTATCTGTTGGGTACAGTCCCACTTGCCTTGAGAACCACTATTTTAGAAGAAGGGGAGTATGCCACCATTGGCAAAACTGATACTACCATAGTCAAGAGGAAGAAGCAAAAGCTCAGCCATACCCAGAATCAGCACATGGGTTCAAGTTTATTCTTCGTTTGTTTTTGTTTGTTTGTGTTGGGTTTTTTGTTTTTGTTTTTGTTT... | ACACAGGATAGATTTTCATATTTTGGATTGTAGGATATCTAATGTTCTTGGCCTAGGACTCTAAATGCCAGTTTGTCATTATGATAAACCAAAAATATCCCCCCAAATTTCTGAAGTATCTGTTGGGTACAGTCCCACTTGCCTTGAGAACCACTATTTTAGAAGAAGGGGAGTATGCCACCATTGGCAAAACTGATACTACCATAGTCAAGAGGAAGAAGCAAAAGCTCAGCCATACCCAGAATCAGCACATGGGTTCAAGTTTATTCTTCGTTTGTTTTTGTTTGTTTGTGTTGGGTTTTTTGTTTTTGTTTTTGTTT... | pathogenic | 148,639 |
Variant on chromosome 9, at position 105604370, affecting FKTN (fukutin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Dilated_cardiomyopathy_1X', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4', 'Walker-Warburg_congenital_muscular_dystrophy'] | TTTGTCATTATGATAAACCAAAAATATCCCCCCAAATTTCTGAAGTATCTGTTGGGTACAGTCCCACTTGCCTTGAGAACCACTATTTTAGAAGAAGGGGAGTATGCCACCATTGGCAAAACTGATACTACCATAGTCAAGAGGAAGAAGCAAAAGCTCAGCCATACCCAGAATCAGCACATGGGTTCAAGTTTATTCTTCGTTTGTTTTTGTTTGTTTGTGTTGGGTTTTTTGTTTTTGTTTTTGTTTTTTGAGACGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCTGTTCACTGCAATCTCC... | TTTGTCATTATGATAAACCAAAAATATCCCCCCAAATTTCTGAAGTATCTGTTGGGTACAGTCCCACTTGCCTTGAGAACCACTATTTTAGAAGAAGGGGAGTATGCCACCATTGGCAAAACTGATACTACCATAGTCAAGAGGAAGAAGCAAAAGCTCAGCCATACCCAGAATCAGCACATGGGTTCAAGTTTATTCTTCGTTTGTTTTTGTTTGTTTGTGTTGGGTTTTTTGTTTTTGTTTTTGTTTTTTGAGACGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCTGTTCACTGCAATCTCC... | pathogenic | 148,644 |
Is the chromosome 9, position 105604384 variant in FKTN (fukutin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Dilated_cardiomyopathy_1X', 'Walker-Warburg_congenital_muscular_dystrophy'] | AAACCAAAAATATCCCCCCAAATTTCTGAAGTATCTGTTGGGTACAGTCCCACTTGCCTTGAGAACCACTATTTTAGAAGAAGGGGAGTATGCCACCATTGGCAAAACTGATACTACCATAGTCAAGAGGAAGAAGCAAAAGCTCAGCCATACCCAGAATCAGCACATGGGTTCAAGTTTATTCTTCGTTTGTTTTTGTTTGTTTGTGTTGGGTTTTTTGTTTTTGTTTTTGTTTTTTGAGACGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCTGTTCACTGCAATCTCCGCCTCCCAGGCTCA... | AAACCAAAAATATCCCCCCAAATTTCTGAAGTATCTGTTGGGTACAGTCCCACTTGCCTTGAGAACCACTATTTTAGAAGAAGGGGAGTATGCCACCATTGGCAAAACTGATACTACCATAGTCAAGAGGAAGAAGCAAAAGCTCAGCCATACCCAGAATCAGCACATGGGTTCAAGTTTATTCTTCGTTTGTTTTTGTTTGTTTGTGTTGGGTTTTTTGTTTTTGTTTTTGTTTTTTGAGACGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCTGTTCACTGCAATCTCCGCCTCCCAGGCTCA... | pathogenic | 148,645 |
Is the genetic mutation found on chromosome 9 at position 105604412, within the gene FKTN (fukutin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4', 'Walker-Warburg_congenital_muscular_dystrophy'] | AAGTATCTGTTGGGTACAGTCCCACTTGCCTTGAGAACCACTATTTTAGAAGAAGGGGAGTATGCCACCATTGGCAAAACTGATACTACCATAGTCAAGAGGAAGAAGCAAAAGCTCAGCCATACCCAGAATCAGCACATGGGTTCAAGTTTATTCTTCGTTTGTTTTTGTTTGTTTGTGTTGGGTTTTTTGTTTTTGTTTTTGTTTTTTGAGACGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCTGTTCACTGCAATCTCCGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAG... | AAGTATCTGTTGGGTACAGTCCCACTTGCCTTGAGAACCACTATTTTAGAAGAAGGGGAGTATGCCACCATTGGCAAAACTGATACTACCATAGTCAAGAGGAAGAAGCAAAAGCTCAGCCATACCCAGAATCAGCACATGGGTTCAAGTTTATTCTTCGTTTGTTTTTGTTTGTTTGTGTTGGGTTTTTTGTTTTTGTTTTTGTTTTTTGAGACGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCTGTTCACTGCAATCTCCGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAG... | pathogenic | 148,647 |
Gene FKTN (fukutin) variant at chromosome position 105604483 on chromosome 9: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2M', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1X', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4', 'Muscular_dystrophy-dystroglycanopathy_(congenital_without_intellectual_disability),_type_B4',... | TGGCAAAACTGATACTACCATAGTCAAGAGGAAGAAGCAAAAGCTCAGCCATACCCAGAATCAGCACATGGGTTCAAGTTTATTCTTCGTTTGTTTTTGTTTGTTTGTGTTGGGTTTTTTGTTTTTGTTTTTGTTTTTTGAGACGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCTGTTCACTGCAATCTCCGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGTGTGACTGATTTTTGTATTTTTTTTTAGTAGGGACGGGGTT... | TGGCAAAACTGATACTACCATAGTCAAGAGGAAGAAGCAAAAGCTCAGCCATACCCAGAATCAGCACATGGGTTCAAGTTTATTCTTCGTTTGTTTTTGTTTGTTTGTGTTGGGTTTTTTGTTTTTGTTTTTGTTTTTTGAGACGGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCTGTTCACTGCAATCTCCGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGTGTGACTGATTTTTGTATTTTTTTTTAGTAGGGACGGGGTT... | pathogenic | 148,650 |
The chromosome 9, position 105607827 genetic variant in gene FKTN (fukutin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Walker-Warburg_congenital_muscular_dystrophy'] | TTAATGGGTACAAAAAAATAGTTAGAAATAATGAATAAGACTGAGTATTTGCTAGGACAACAAGGTGACTATAGTAAAAAATAATTGTACATTTTAAAATAACTAAAAGTATACTTGGATTGTTTAATACAAAGGATAAATGCTTGAGGTGATAGATACCCCATTTACTCTGATGTGATTATTATGCATTGCATGCTTGTATCAAAATATTGCATGTAACCCATAAGTATACACACCTACTATGTACCTACAAAAATTGAAAATACAAAAGTGAAAGTAAATTCTATTATTACTTTTATAAAAAGTTCAAACACATGCTA... | TTAATGGGTACAAAAAAATAGTTAGAAATAATGAATAAGACTGAGTATTTGCTAGGACAACAAGGTGACTATAGTAAAAAATAATTGTACATTTTAAAATAACTAAAAGTATACTTGGATTGTTTAATACAAAGGATAAATGCTTGAGGTGATAGATACCCCATTTACTCTGATGTGATTATTATGCATTGCATGCTTGTATCAAAATATTGCATGTAACCCATAAGTATACACACCTACTATGTACCTACAAAAATTGAAAATACAAAAGTGAAAGTAAATTCTATTATTACTTTTATAAAAAGTTCAAACACATGCTA... | pathogenic | 148,654 |
The mutation impacting FKTN (fukutin) on chromosome 9 at position 105607940: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Dilated_cardiomyopathy_1X', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4'] | CTTGGATTGTTTAATACAAAGGATAAATGCTTGAGGTGATAGATACCCCATTTACTCTGATGTGATTATTATGCATTGCATGCTTGTATCAAAATATTGCATGTAACCCATAAGTATACACACCTACTATGTACCTACAAAAATTGAAAATACAAAAGTGAAAGTAAATTCTATTATTACTTTTATAAAAAGTTCAAACACATGCTAAATTATGTTCATGGATGTATACCCTTATAGTAAAAGTATTAAGAAGGCTAAGCAAGACGTACCAAAAAAGACTAGATAGAGGACACAGAGAACTACAGGGAAACTGGAAGAAT... | CTTGGATTGTTTAATACAAAGGATAAATGCTTGAGGTGATAGATACCCCATTTACTCTGATGTGATTATTATGCATTGCATGCTTGTATCAAAATATTGCATGTAACCCATAAGTATACACACCTACTATGTACCTACAAAAATTGAAAATACAAAAGTGAAAGTAAATTCTATTATTACTTTTATAAAAAGTTCAAACACATGCTAAATTATGTTCATGGATGTATACCCTTATAGTAAAAGTATTAAGAAGGCTAAGCAAGACGTACCAAAAAAGACTAGATAGAGGACACAGAGAACTACAGGGAAACTGGAAGAAT... | pathogenic | 148,659 |
Evaluate this variant at chromosome 9, position 105618068, gene FKTN (fukutin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Dilated_cardiomyopathy_1X', 'Walker-Warburg_congenital_muscular_dystrophy'] | ACTATTGAAAATTTCCTGGGAAAATCAAGGAATGTGTCACAGAGGCTAAATCTGAGCCCTGAAAGATTTGATTTAACACTTCTGAATTGTTTATTTCTGGAATTTACCATTTAATATCTTCAGATCGTGGTTGTCCACAGGTAACTGAAACTGCTAAAAGCAAAACCACGGATATGGCAGGACTACTATAGTTGATTCTCAGATAATCCTTAAATTAGCATTTTATTATTTCTATCCCAAAGATTGTTATTGCCTTTTTTTATAATTATAAAAAACCCTCTATTTCTTTACTTATATACCATTCAAACAGCTTGCATTGC... | ACTATTGAAAATTTCCTGGGAAAATCAAGGAATGTGTCACAGAGGCTAAATCTGAGCCCTGAAAGATTTGATTTAACACTTCTGAATTGTTTATTTCTGGAATTTACCATTTAATATCTTCAGATCGTGGTTGTCCACAGGTAACTGAAACTGCTAAAAGCAAAACCACGGATATGGCAGGACTACTATAGTTGATTCTCAGATAATCCTTAAATTAGCATTTTATTATTTCTATCCCAAAGATTGTTATTGCCTTTTTTTATAATTATAAAAAACCCTCTATTTCTTTACTTATATACCATTCAAACAGCTTGCATTGC... | pathogenic | 148,672 |
Is the variant located on chromosome 9 at position 105619987, gene FKTN (fukutin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4', 'Walker-Warburg_congenital_muscular_dystrophy'] | AAATTTAATCTTCTTTTTAGGATGGTATCGACAATGCAACATTATTCCTTATAGCAAAGATGTTGACCTAGGAATTTTTATACAAGATTACAAATCTGATATTATTTTAGCATTTCAGGATGCAGGACTTCCGCTCAAACACAAATTTGGGAAGGTCAGTAACAAAAGTCGGCTTCATTTCATAAGTAACATATCTCACTTGTAAAGTTTACATTAAGCAACTCAGATATGGTTAAGAATGCTACATACATAATTTTATCACTCAGTATTGACTAGGATGAGTTCAGCAGAAGCCTGTTACCACTTGTAATTTCTGCACT... | AAATTTAATCTTCTTTTTAGGATGGTATCGACAATGCAACATTATTCCTTATAGCAAAGATGTTGACCTAGGAATTTTTATACAAGATTACAAATCTGATATTATTTTAGCATTTCAGGATGCAGGACTTCCGCTCAAACACAAATTTGGGAAGGTCAGTAACAAAAGTCGGCTTCATTTCATAAGTAACATATCTCACTTGTAAAGTTTACATTAAGCAACTCAGATATGGTTAAGAATGCTACATACATAATTTTATCACTCAGTATTGACTAGGATGAGTTCAGCAGAAGCCTGTTACCACTTGTAATTTCTGCACT... | pathogenic | 148,682 |
Does the variant on chromosome 9 at location 105619988 affecting gene FKTN (fukutin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1X', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4', 'Walker-Warburg_congenital_muscular_dystrophy'] | AATTTAATCTTCTTTTTAGGATGGTATCGACAATGCAACATTATTCCTTATAGCAAAGATGTTGACCTAGGAATTTTTATACAAGATTACAAATCTGATATTATTTTAGCATTTCAGGATGCAGGACTTCCGCTCAAACACAAATTTGGGAAGGTCAGTAACAAAAGTCGGCTTCATTTCATAAGTAACATATCTCACTTGTAAAGTTTACATTAAGCAACTCAGATATGGTTAAGAATGCTACATACATAATTTTATCACTCAGTATTGACTAGGATGAGTTCAGCAGAAGCCTGTTACCACTTGTAATTTCTGCACTG... | AATTTAATCTTCTTTTTAGGATGGTATCGACAATGCAACATTATTCCTTATAGCAAAGATGTTGACCTAGGAATTTTTATACAAGATTACAAATCTGATATTATTTTAGCATTTCAGGATGCAGGACTTCCGCTCAAACACAAATTTGGGAAGGTCAGTAACAAAAGTCGGCTTCATTTCATAAGTAACATATCTCACTTGTAAAGTTTACATTAAGCAACTCAGATATGGTTAAGAATGCTACATACATAATTTTATCACTCAGTATTGACTAGGATGAGTTCAGCAGAAGCCTGTTACCACTTGTAATTTCTGCACTG... | pathogenic | 148,683 |
Gene FKTN (fukutin) variant at chromosome 9, position 105620017—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1X', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4', 'Walker-Warburg_congenital_muscular_dystrophy'] | ACAATGCAACATTATTCCTTATAGCAAAGATGTTGACCTAGGAATTTTTATACAAGATTACAAATCTGATATTATTTTAGCATTTCAGGATGCAGGACTTCCGCTCAAACACAAATTTGGGAAGGTCAGTAACAAAAGTCGGCTTCATTTCATAAGTAACATATCTCACTTGTAAAGTTTACATTAAGCAACTCAGATATGGTTAAGAATGCTACATACATAATTTTATCACTCAGTATTGACTAGGATGAGTTCAGCAGAAGCCTGTTACCACTTGTAATTTCTGCACTGTCTAGGCAAAAGCAAGAAAATCTGGCTTT... | ACAATGCAACATTATTCCTTATAGCAAAGATGTTGACCTAGGAATTTTTATACAAGATTACAAATCTGATATTATTTTAGCATTTCAGGATGCAGGACTTCCGCTCAAACACAAATTTGGGAAGGTCAGTAACAAAAGTCGGCTTCATTTCATAAGTAACATATCTCACTTGTAAAGTTTACATTAAGCAACTCAGATATGGTTAAGAATGCTACATACATAATTTTATCACTCAGTATTGACTAGGATGAGTTCAGCAGAAGCCTGTTACCACTTGTAATTTCTGCACTGTCTAGGCAAAAGCAAGAAAATCTGGCTTT... | pathogenic | 148,685 |
Variant in gene FKTN (fukutin), located at chromosome 9 position 105620049: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2M', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1X', 'FKTN-related_disorder', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye... | TTGACCTAGGAATTTTTATACAAGATTACAAATCTGATATTATTTTAGCATTTCAGGATGCAGGACTTCCGCTCAAACACAAATTTGGGAAGGTCAGTAACAAAAGTCGGCTTCATTTCATAAGTAACATATCTCACTTGTAAAGTTTACATTAAGCAACTCAGATATGGTTAAGAATGCTACATACATAATTTTATCACTCAGTATTGACTAGGATGAGTTCAGCAGAAGCCTGTTACCACTTGTAATTTCTGCACTGTCTAGGCAAAAGCAAGAAAATCTGGCTTTCTACTGGGTTGGTGCAAAAGTAATTGTGGTTT... | TTGACCTAGGAATTTTTATACAAGATTACAAATCTGATATTATTTTAGCATTTCAGGATGCAGGACTTCCGCTCAAACACAAATTTGGGAAGGTCAGTAACAAAAGTCGGCTTCATTTCATAAGTAACATATCTCACTTGTAAAGTTTACATTAAGCAACTCAGATATGGTTAAGAATGCTACATACATAATTTTATCACTCAGTATTGACTAGGATGAGTTCAGCAGAAGCCTGTTACCACTTGTAATTTCTGCACTGTCTAGGCAAAAGCAAGAAAATCTGGCTTTCTACTGGGTTGGTGCAAAAGTAATTGTGGTTT... | pathogenic | 148,688 |
Variant on chromosome 9, at position 105620049, affecting FKTN (fukutin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1X', 'Walker-Warburg_congenital_muscular_dystrophy'] | TTGACCTAGGAATTTTTATACAAGATTACAAATCTGATATTATTTTAGCATTTCAGGATGCAGGACTTCCGCTCAAACACAAATTTGGGAAGGTCAGTAACAAAAGTCGGCTTCATTTCATAAGTAACATATCTCACTTGTAAAGTTTACATTAAGCAACTCAGATATGGTTAAGAATGCTACATACATAATTTTATCACTCAGTATTGACTAGGATGAGTTCAGCAGAAGCCTGTTACCACTTGTAATTTCTGCACTGTCTAGGCAAAAGCAAGAAAATCTGGCTTTCTACTGGGTTGGTGCAAAAGTAATTGTGGTTT... | TTGACCTAGGAATTTTTATACAAGATTACAAATCTGATATTATTTTAGCATTTCAGGATGCAGGACTTCCGCTCAAACACAAATTTGGGAAGGTCAGTAACAAAAGTCGGCTTCATTTCATAAGTAACATATCTCACTTGTAAAGTTTACATTAAGCAACTCAGATATGGTTAAGAATGCTACATACATAATTTTATCACTCAGTATTGACTAGGATGAGTTCAGCAGAAGCCTGTTACCACTTGTAATTTCTGCACTGTCTAGGCAAAAGCAAGAAAATCTGGCTTTCTACTGGGTTGGTGCAAAAGTAATTGTGGTTT... | pathogenic | 148,689 |
Variant in gene FKTN (fukutin), located at chromosome 9 position 105635052: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1X'] | TCATTCACTCTCCTTCACTTCCTCCCTACAATCCTATTTTATAATCAGTTTTTACATTTTATTGTTTGTTTATCTTTCCTCTTAGGAAGCTGGGATTTTCTTTTTGCTGAATGGATTGAAAAATAATTGGGGAAAAGGAAACCACAAAGAGTTTAGAGAGGTTTCTGTTAAGTACAAAAATTAACATTTGAGTTAAATTGTCTTCGAATTATTTTCACATTATTTATATATTTAAAATGTTTTGGCTTTGCTCATAAATTCTTCATTGTTCAAAACATTGCTTTTGTAAAATTTGTAGTATTCCCTTTCACCTTATCTAT... | TCATTCACTCTCCTTCACTTCCTCCCTACAATCCTATTTTATAATCAGTTTTTACATTTTATTGTTTGTTTATCTTTCCTCTTAGGAAGCTGGGATTTTCTTTTTGCTGAATGGATTGAAAAATAATTGGGGAAAAGGAAACCACAAAGAGTTTAGAGAGGTTTCTGTTAAGTACAAAAATTAACATTTGAGTTAAATTGTCTTCGAATTATTTTCACATTATTTATATATTTAAAATGTTTTGGCTTTGCTCATAAATTCTTCATTGTTCAAAACATTGCTTTTGTAAAATTTGTAGTATTCCCTTTCACCTTATCTAT... | pathogenic | 148,692 |
Is the variant located on chromosome 9 at position 105635139, gene FKTN (fukutin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2M', 'Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1X', 'FKTN-related_disorder', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4', 'Muscular_dystrophy-dystroglycanopathy_(congenital_without_intellectu... | AGCTGGGATTTTCTTTTTGCTGAATGGATTGAAAAATAATTGGGGAAAAGGAAACCACAAAGAGTTTAGAGAGGTTTCTGTTAAGTACAAAAATTAACATTTGAGTTAAATTGTCTTCGAATTATTTTCACATTATTTATATATTTAAAATGTTTTGGCTTTGCTCATAAATTCTTCATTGTTCAAAACATTGCTTTTGTAAAATTTGTAGTATTCCCTTTCACCTTATCTATCCTGTATCTATTATTATTTTTCCCTCTTTCAGCTTTTTGATGAGACCACAAAGGATAATACTTAGAGGAGTTTCCTGGCCTGTATTA... | AGCTGGGATTTTCTTTTTGCTGAATGGATTGAAAAATAATTGGGGAAAAGGAAACCACAAAGAGTTTAGAGAGGTTTCTGTTAAGTACAAAAATTAACATTTGAGTTAAATTGTCTTCGAATTATTTTCACATTATTTATATATTTAAAATGTTTTGGCTTTGCTCATAAATTCTTCATTGTTCAAAACATTGCTTTTGTAAAATTTGTAGTATTCCCTTTCACCTTATCTATCCTGTATCTATTATTATTTTTCCCTCTTTCAGCTTTTTGATGAGACCACAAAGGATAATACTTAGAGGAGTTTCCTGGCCTGTATTA... | pathogenic | 148,700 |
Variant in FKTN (fukutin), chromosome 9, position 105635149—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Dilated_cardiomyopathy_1X', 'Walker-Warburg_congenital_muscular_dystrophy'] | TTCTTTTTGCTGAATGGATTGAAAAATAATTGGGGAAAAGGAAACCACAAAGAGTTTAGAGAGGTTTCTGTTAAGTACAAAAATTAACATTTGAGTTAAATTGTCTTCGAATTATTTTCACATTATTTATATATTTAAAATGTTTTGGCTTTGCTCATAAATTCTTCATTGTTCAAAACATTGCTTTTGTAAAATTTGTAGTATTCCCTTTCACCTTATCTATCCTGTATCTATTATTATTTTTCCCTCTTTCAGCTTTTTGATGAGACCACAAAGGATAATACTTAGAGGAGTTTCCTGGCCTGTATTACAAGATAGAC... | TTCTTTTTGCTGAATGGATTGAAAAATAATTGGGGAAAAGGAAACCACAAAGAGTTTAGAGAGGTTTCTGTTAAGTACAAAAATTAACATTTGAGTTAAATTGTCTTCGAATTATTTTCACATTATTTATATATTTAAAATGTTTTGGCTTTGCTCATAAATTCTTCATTGTTCAAAACATTGCTTTTGTAAAATTTGTAGTATTCCCTTTCACCTTATCTATCCTGTATCTATTATTATTTTTCCCTCTTTCAGCTTTTTGATGAGACCACAAAGGATAATACTTAGAGGAGTTTCCTGGCCTGTATTACAAGATAGAC... | pathogenic | 148,702 |
Is the genetic variant on chromosome 9, position 105635191, gene FKTN (fukutin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2M', 'Dilated_cardiomyopathy_1X', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_4', 'Muscular_dystrophy-dystroglycanopathy_(congenital_without_intellectual_disability),_type_B4', 'Walker-Warburg_congenital_... | AACCACAAAGAGTTTAGAGAGGTTTCTGTTAAGTACAAAAATTAACATTTGAGTTAAATTGTCTTCGAATTATTTTCACATTATTTATATATTTAAAATGTTTTGGCTTTGCTCATAAATTCTTCATTGTTCAAAACATTGCTTTTGTAAAATTTGTAGTATTCCCTTTCACCTTATCTATCCTGTATCTATTATTATTTTTCCCTCTTTCAGCTTTTTGATGAGACCACAAAGGATAATACTTAGAGGAGTTTCCTGGCCTGTATTACAAGATAGACCATGAGTTCTGCCTCAATTCAACTTCATTGTGTCAACTTGAT... | AACCACAAAGAGTTTAGAGAGGTTTCTGTTAAGTACAAAAATTAACATTTGAGTTAAATTGTCTTCGAATTATTTTCACATTATTTATATATTTAAAATGTTTTGGCTTTGCTCATAAATTCTTCATTGTTCAAAACATTGCTTTTGTAAAATTTGTAGTATTCCCTTTCACCTTATCTATCCTGTATCTATTATTATTTTTCCCTCTTTCAGCTTTTTGATGAGACCACAAAGGATAATACTTAGAGGAGTTTCCTGGCCTGTATTACAAGATAGACCATGAGTTCTGCCTCAATTCAACTTCATTGTGTCAACTTGAT... | pathogenic | 148,705 |
Variant in gene FKTN (fukutin), located at chromosome 9 position 105639642: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | AGTACCTCATTGGATCACTTTTCTTTCATCACTTGAGTATTCTAGCAGTCATTCTCCTAATCTGACCACTTTCAGGTTTAGTTTACCTGGCTTACCTGGGGAAGTTGACAACTTGTTGGTAGTTAGGCACCCATGAATGTCTCCAGAGACATCCTGAGAGGCAAGATTCCTCTTAATTGATAACCAGGACAACCAGGTAGTCACCCAGTCCTCTCTAAGCAGGGAGCACTTGTCCTTCTCTCCTCTGCTGCAGCTACTGATATCTGGCCCCTGGAATAAAACCATAGTTCCTAAAATTGAGCATCCCTAAGAGTAGCTGC... | AGTACCTCATTGGATCACTTTTCTTTCATCACTTGAGTATTCTAGCAGTCATTCTCCTAATCTGACCACTTTCAGGTTTAGTTTACCTGGCTTACCTGGGGAAGTTGACAACTTGTTGGTAGTTAGGCACCCATGAATGTCTCCAGAGACATCCTGAGAGGCAAGATTCCTCTTAATTGATAACCAGGACAACCAGGTAGTCACCCAGTCCTCTCTAAGCAGGGAGCACTTGTCCTTCTCTCCTCTGCTGCAGCTACTGATATCTGGCCCCTGGAATAAAACCATAGTTCCTAAAATTGAGCATCCCTAAGAGTAGCTGC... | benign | 148,711 |
Variant at chromosome 9, position 106927209, gene ZNF462 (zinc finger protein 462): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Inborn_genetic_diseases', 'Weiss-Kruszka_syndrome'] | ATGGGCTCAGATGGCAACAAATTATTGGAGACCAAGGGGATTCCATTTAGAAGATTCATGAATAGGTTCCAGTGCCCCTTTTGTCCTTTCCTCACCATGCATCGACGTAGCATCTCTCGTCACATAGAAAACATCCACTTATCTGGAAAGACAGCTGTCTACAAATGTGACGAATGTCCGTTTACTTGCAAGAGCTCGTTGAAACTTGGGGCTCACAAACAGTGTCACACGGGTACAACGTCAGATTGGGATGCTGTGAATTCCCAGAGTGAAAGCATTTCTTCCTCACTGAATGAAGGTGTGGTGTCTTATGAGAGCTC... | ATGGGCTCAGATGGCAACAAATTATTGGAGACCAAGGGGATTCCATTTAGAAGATTCATGAATAGGTTCCAGTGCCCCTTTTGTCCTTTCCTCACCATGCATCGACGTAGCATCTCTCGTCACATAGAAAACATCCACTTATCTGGAAAGACAGCTGTCTACAAATGTGACGAATGTCCGTTTACTTGCAAGAGCTCGTTGAAACTTGGGGCTCACAAACAGTGTCACACGGGTACAACGTCAGATTGGGATGCTGTGAATTCCCAGAGTGAAAGCATTTCTTCCTCACTGAATGAAGGTGTGGTGTCTTATGAGAGCTC... | pathogenic | 148,750 |
Clinical impact (benign or pathogenic) of the variant at chromosome 9, location 106928091, gene ZNF462 (zinc finger protein 462): what disease(s) if pathogenic? | pathogenic; ['Weiss-Kruszka_syndrome'] | AAACAGCAGGAAGATGCAGTGATCAATGTTGAGGATGATGAAGAGGAAGAGGAAGACAACGAAGTCGAGATAGAGGTTGAGTTGGACAGGGAGGAAGAACCGACAGAACCCATCATAGAGGTTCCCACTTCCTTTTCTGCCCAACAGATATGGGTAAGAGATACCAGTGAGCCCCAGAAAGAGCCCAACTTCAGAAACATCACCCACGATTACAATGCCACCAATGGGGCTGAGATTGAGCTCACCCTTTCTGAAGATGAAGAGGATTATTATGGCTCCTCAACAAACTTGAAAGATCACCAAGTTTCCAATACTGCTCT... | AAACAGCAGGAAGATGCAGTGATCAATGTTGAGGATGATGAAGAGGAAGAGGAAGACAACGAAGTCGAGATAGAGGTTGAGTTGGACAGGGAGGAAGAACCGACAGAACCCATCATAGAGGTTCCCACTTCCTTTTCTGCCCAACAGATATGGGTAAGAGATACCAGTGAGCCCCAGAAAGAGCCCAACTTCAGAAACATCACCCACGATTACAATGCCACCAATGGGGCTGAGATTGAGCTCACCCTTTCTGAAGATGAAGAGGATTATTATGGCTCCTCAACAAACTTGAAAGATCACCAAGTTTCCAATACTGCTCT... | pathogenic | 148,759 |
Variant in gene ELP1 (elongator acetyltransferase complex subunit 1), located at chromosome 9 position 108874983: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | GTACAGACTTTTGGGCAAGAAAGTAATTATTCTGACAAATTATATGACAGCAGGACATGACATATTTCACATTTCCATATGTGGATTTCACAGCACACAAAAAAGGCCATTTTTATAAAAATAACTTGAGGGCTTTTCAATTTTTCTAAGGACCTCTCTCAATCCTTTGATAGTCAAAATCATTTGAAGCACTTATTTTGTCATCAATTGCAACAAGTCCAACCCAGCTGTGATTCAAGTACTTTTCCAATATCATTTTAATCTATTTTATGTAATACTAAATTTTTGCAAGACTTGCAATTGATCTGCATGATATTGTA... | GTACAGACTTTTGGGCAAGAAAGTAATTATTCTGACAAATTATATGACAGCAGGACATGACATATTTCACATTTCCATATGTGGATTTCACAGCACACAAAAAAGGCCATTTTTATAAAAATAACTTGAGGGCTTTTCAATTTTTCTAAGGACCTCTCTCAATCCTTTGATAGTCAAAATCATTTGAAGCACTTATTTTGTCATCAATTGCAACAAGTCCAACCCAGCTGTGATTCAAGTACTTTTCCAATATCATTTTAATCTATTTTATGTAATACTAAATTTTTGCAAGACTTGCAATTGATCTGCATGATATTGTA... | benign | 148,777 |
For chromosome 9, position 108878015, gene ELP1 (elongator acetyltransferase complex subunit 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma'] | TGGTATTATAAATTATTATCTTCAAGCCGGGCATGGTGGCTGATGCCTATAGTCCCAGCACTTTGGAGAGGTGAGGTGGGCAGACCACTTGAGCCCAGGAGTTGTTCAAGACCAGCGGGGACAACTTGGTGACACCCTGTCTCTACAGAAAATTTGAAAATTAACCAGGTGTTGTGGCATGCGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATCACCTGAGCCCGGGGCGGTGGATGCTGCAGTGAGCGGTGATCACTGCACTCCAGCCTGAGCAACAGAGTGAGACCCTGTCTCAAAAAACAAAAACAA... | TGGTATTATAAATTATTATCTTCAAGCCGGGCATGGTGGCTGATGCCTATAGTCCCAGCACTTTGGAGAGGTGAGGTGGGCAGACCACTTGAGCCCAGGAGTTGTTCAAGACCAGCGGGGACAACTTGGTGACACCCTGTCTCTACAGAAAATTTGAAAATTAACCAGGTGTTGTGGCATGCGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGTGGGAGGATCACCTGAGCCCGGGGCGGTGGATGCTGCAGTGAGCGGTGATCACTGCACTCCAGCCTGAGCAACAGAGTGAGACCCTGTCTCAAAAAACAAAAACAA... | pathogenic | 148,785 |
Is the genetic variant on chromosome 9, position 108878679, gene ELP1 (elongator acetyltransferase complex subunit 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_dysautonomia', 'Medulloblastoma'] | CTGGCTTCCCATCATGTCCTGCCTACAGTGAACACCAGAGGGGGAGTACAAAGCTGGAGGATGAACAAAAGATTTCTAGATTTCTTCCGTGATTGGCTGGCTTTTTTTTTTTTTTTTTTAAACGGAGATTCGCTCTTGCTGCCCAGGTTGGAGTACAATGGCACGATCTTGGCTCATCACAACCTCTGTCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGGTAATTTTGTATTTTTAGTAGAGACGGGGCTTCTCCATGTTGGCCACATTAGTCAC... | CTGGCTTCCCATCATGTCCTGCCTACAGTGAACACCAGAGGGGGAGTACAAAGCTGGAGGATGAACAAAAGATTTCTAGATTTCTTCCGTGATTGGCTGGCTTTTTTTTTTTTTTTTTTAAACGGAGATTCGCTCTTGCTGCCCAGGTTGGAGTACAATGGCACGATCTTGGCTCATCACAACCTCTGTCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGGTAATTTTGTATTTTTAGTAGAGACGGGGCTTCTCCATGTTGGCCACATTAGTCAC... | pathogenic | 148,792 |
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