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 chromosome 17 mutation at position 50193989 within gene COL1A1 (collagen type I alpha 1 chain) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Osteogenesis_imperfecta_type_I', 'likely other unspecified diseases'] | GACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCA... | GACGCACCTTGACGGATGCAGCGAGAGAGGCCTACTTACTCTTGCTCCAGAGGGGCCAGGGGCGCCAAGGTCTCCAGGAACACCCTGAGGGGGAGGGAGAGAGGAACAGACAGTGAGCAAAACCCACCTGGGGCCACTCTGCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCA... | pathogenic | 278,821 |
Clinical significance of chromosome 17, position 50194129, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Osteogenesis_imperfecta_type_I'] | GCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGA... | GCTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGA... | pathogenic | 278,830 |
Assess the variant on chromosome 17, position 50194130, impacting COL1A1 (collagen type I alpha 1 chain): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGAT... | CTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGAT... | pathogenic | 278,831 |
Benign or pathogenic: chromosome 17, position 50194130, gene COL1A1 (collagen type I alpha 1 chain) variant? Disease(s) if pathogenic? | pathogenic; ['Combined_osteogenesis_imperfecta_and_Ehlers-Danlos_syndrome_1', 'Ehlers-Danlos_syndrome,_arthrochalasia_type', 'Infantile_cortical_hyperostosis', 'Osteogenesis_imperfecta,_perinatal_lethal', 'Osteogenesis_imperfecta_type_I', 'Osteogenesis_imperfecta_type_III', 'Osteogenesis_imperfecta_with_normal_sclerae,... | CTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGAT... | CTGGAAAGCACGGTCCTTCCTCCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGAT... | pathogenic | 278,832 |
Variant chromosome 17, position 50194151, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? Disease(s)? | pathogenic; ['Combined_osteogenesis_imperfecta_and_Ehlers-Danlos_syndrome_1', 'Ehlers-Danlos_syndrome,_arthrochalasia_type', 'Infantile_cortical_hyperostosis', 'Osteogenesis_imperfecta', 'Osteogenesis_imperfecta,_perinatal_lethal', 'Osteogenesis_imperfecta_type_I', 'Osteogenesis_imperfecta_type_III', 'Osteogenesis_impe... | CCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGT... | CCTGGGGTCTGGCCGTGATTAGAGAGGAACCCCTTCTCAGCACTGAATTGAGATTATCCCAAACAGCCCCTCTCTTCCTCCTAGGGATGTGTCAAAGGCTTCCCCCCTCCCCAAACTATGGACCAAGATTTATCAATAGAAGGGTTGAGGGAAAGTCACAGCATATTCCAGCAGCTCTTAAAAGAAGTCACCCAGACTAGCAATCATGCAGCCCCCACTTCCCTCTGTGCTGCTCCCTTCATGGGAGGAAGTTCTTTCCGGCGTCTAACCTCAATCCCTCTAGTTGATGGCTGTCTGATTAGCTAGGAGCGGGGGCCTGT... | pathogenic | 278,833 |
Regarding the variant at chromosome 17 and position 50194729, affecting gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCG... | CGCCAGCGGGACCCTGCACAGAGAGAACACTACAGTCACGGGGAGGCCGAGGAGACGAGGGGCTGAGGGTGTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCG... | pathogenic | 278,854 |
Located at chromosome 17 position 50194799, the variant affecting gene COL1A1 (collagen type I alpha 1 chain)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Osteogenesis_imperfecta_type_I'] | GTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGT... | GTCTCCCCTTTTCTGCTCCCCAGATCTCCCCATCAGGGACACTCACAGCAGGGCCAGGGGGTCCCTGAGCTCCAGCCTCTCCATCTTTGCCAGCAGGACCCTGCAGGGAGAGAGCAAAGGGGAACTCAGGGTTAGGAGGCCCCGAGCAGCTGAGGACCGTGGCCTCTAGCACCCCTCCTGCAGGGAGGAGAAAGTGCCGGGGCAGCAATGGGAAGGAGGTAGGGATGGAAAGGAGATACTTACGACAGCGCCAGGGGGTCCGGGAACACCTCGCTCTCCAGCCTTGCCGGGCTCTCCCTGTGGAGAAAGGGAGTTAGGGT... | pathogenic | 278,865 |
Variant at chromosome position 50195106, chromosome 17, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCT... | AGGGAGTTAGGGTTGAGGGGGCTGAAGTGAGAAGCCAGGGCCTCCTGGGGCCTCTCATTTACTCTGAGTGGGACTTTTTAAGGGACTTTCTTTTCAAAAGACTGTTTGGCCCCCGGGGAATGCCCCTGCAGGTGCTTCTTGCTGGGCCCTTTCTGAGCCCACTCCTCCCAAGATGCCCTTCCAGGCTCCTCTGCCTTTTCCCTGTTAGATGCCCGCTGTGGCCTGCACTGCAAAGGGCTTTCATCTTCTCTGCTATCTCCTTTTGGACCTCAAAGAATCCACCAAGACTGGGGGTGCCTATCATATCAAAGGCCTGTCCT... | benign | 278,871 |
Chromosome 17, position 50195593, gene COL1A1 (collagen type I alpha 1 chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_I', 'Osteogenesis_imperfecta_type_III'] | GATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCT... | GATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCT... | pathogenic | 278,895 |
Determine whether the variant at chromosome 17, position 50195594, in gene COL1A1 (collagen type I alpha 1 chain) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Osteogenesis_imperfecta_type_I'] | ATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTG... | ATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTG... | pathogenic | 278,896 |
Gene COL1A1 (collagen type I alpha 1 chain) variant at chromosome position 50195594 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Osteogenesis_imperfecta_type_I', 'Osteogenesis_imperfecta_with_normal_sclerae,_dominant_form'] | ATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTG... | ATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTCAGCCTCCTGACTAGCTGGGGTTACAGGTGCACACCACCACACCCAGCTAATCTTTTGTATTTTTAGTAGAGACGTGGTTTCACTATGTTGGCCCGACTGGTCTCAAACTCCTGACCTCATGGTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCCGCCGAGAAGTCTTTCATTTTACAGATAGGGAGGCTGAGGTCCAGAAAGTGAGAGTGAGTGGCCACACGGCAGGTCAGCGGCACAGCTG... | pathogenic | 278,897 |
The mutation in gene COL1A1 (collagen type I alpha 1 chain) at chromosome 17, position 50195910—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGA... | GCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGA... | benign | 278,908 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 50195910, gene COL1A1 (collagen type I alpha 1 chain). What disease(s) is it linked to if pathogenic? | benign | GCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGA... | GCTGAGCCCAGAGCCCAGGACTCCTTCAAGTCTCAGGTGTGTTTGTCCCTGGCTCTTCATGGATCCTCACTTAATACTCACAGCAGCACCTTTAGGTCCAGGGAATCCCATCACACCAGCCTGACCACGGGCACCAGGTGGGCCTGGGGGTCCGGGGCGACCATCTTGACCGGCGGGACCCTAAGGATGGGAGGCACGAAAGCAGCAGTGAGGACAGCAGGGAGGCAGACAGGACAATGGCAGGGGGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGA... | benign | 278,909 |
Located at chromosome 17 position 50196155, the variant affecting gene COL1A1 (collagen type I alpha 1 chain)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_I'] | GGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGA... | GGTTCAGGGGGAGTGATACTTACAGGGGGGCCAGTTTTGCCATCAGGACCAGGGCTGCCAGGGCTTCCAGTCAGACCCTAGGGAGGCAGAGAGGTATGAGTGGGACTTGGGGAGAAGCATGATGGAGGTGGGGGAGGACTCCAGAGGGCAGACCCTTGGGCCTGATCCAGAACGCCTCATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGA... | pathogenic | 278,916 |
Chromosome 17, position 50196332, gene COL1A1 (collagen type I alpha 1 chain): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGG... | CATCCCAGACCCTACACGGGATGGTCAGGGCCTGGCCAAGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCACCAGGCAGACCAGCTTCACCGGGACGACCAGCTTCACCAGGAGATCCTTTGGGGCCAGCAGGGCCAGGAGAACCACGTTCACCAGCGGGACCCTGGTTGGGGGAAGTCACAGGAACAGTTAGGGTCTCAAGTTTGTGGCTCTTTGCCACGGGCCAAAAGAGGAAGAAGATGCCCAGGGAGCGGCAGGGTCAGCCCCCCGGCCGCAAGGAGAGGTTACCTTGGGACCAGCAACACCATCTGCGCCAGGG... | pathogenic | 278,926 |
Benign or pathogenic: chromosome 17, position 50197229, gene COL1A1 variant? Disease(s) if pathogenic? | pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_I'] | CGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTG... | CGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTG... | pathogenic | 278,960 |
Does the variant impacting COL1A1 on chromosome 17, position 50197229, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_I'] | CGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTG... | CGCACTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTG... | pathogenic | 278,961 |
Considering the genetic mutation at chromosome 17, position 50197233, impacting COL1A1: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAG... | CTGGAGCCAGTGCATGGGGTGGGCAGAAGGGAGAGTTTGGTACTCACGCTGTTACCCTTGGGACCAGGAGGGCCGCCGGGGCCCTGGGGTCCAGAGGGGCCTCGGGCACCAGGGAAGCCAGGAGCACCAGCAATACCAGGAGCACCCTGTGGGAGGCAGACAGCCAGGGCGTGAGCCTAGGAGCAGAGGGAAAGGGGCAGGCAGGCTGCAGGCGGCAGGAGTGGGACTGAAGCCTGGCAGGATACTTACATTGGCACCTTTAGCACCAGGCTGTCCATCAGCACCAGGGTTTCCCTGTGGCACAGAGAAAGGAGTGTCAG... | pathogenic | 278,962 |
A mutation at chromosome position 50197975 on chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_I'] | GCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCA... | GCACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCA... | pathogenic | 278,979 |
Clinically, how would you classify the variant at chromosome 17, position 50197976, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAG... | CACCAACAGCACCAGGGAAGCCAGGAGGACCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAG... | pathogenic | 278,980 |
Regarding the variant found on chromosome 17 at position 50198005 in gene COL1A1 (collagen type I alpha 1 chain): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCA... | CCAGCGGGGCCGGTGGGACCCTGTGAATGAAATGGAGATGTCAGCGAGAAGGAAGAGATGGCAGCTGCAAGTCACACCCTGGGACAGAGGAAGTCCTGGGGTTCAGACCAACATAACCTGCTCCCATTGTCAGCCCCAAGAGCAGATACTGAGACCCCTCCCCACTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCA... | benign | 278,989 |
Mutation found at chromosome 17 position 50198169, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Osteogenesis_imperfecta', 'Osteogenesis_imperfecta_type_I', 'Postmenopausal_osteoporosis'] | CTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCT... | CTCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCT... | pathogenic | 278,996 |
Is the genetic change at chromosome 17, position 50198170, within gene COL1A1 (collagen type I alpha 1 chain) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Osteogenesis_imperfecta_type_I'] | TCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTG... | TCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTG... | pathogenic | 278,997 |
For chromosome 17, position 50198170, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Osteogenesis_imperfecta_type_I'] | TCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTG... | TCCCAGGCCCTGAGGCCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTG... | pathogenic | 278,998 |
Mutation found at chromosome 17 position 50198185, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCC... | CCTACAGGCCACACTCACAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCCTGCAGGAGAGAGGGGAAGCCCCGTTAAGTCCACTGAGCACTGGCCAGTCCCTAGAGTTCCTGGGGAGCCCCTTCCAGAGCTCAGGGATCCCCCAAGGGGCCAGGAGTACTTACAGCAGGGCCAGGGGCTCCAGGGCGACCTCTCTCACCAGGCAGGCCACGGGGGCCCTGACAACCAAACCAAGAGAAGTCAGATGAGATGGGAGACAGCCTTGTTCCCCCAGGCCTCCATCTTGCCCCTGCCTCCTGCCCCATCC... | pathogenic | 278,999 |
Does the chromosome 17 mutation at position 50198515 within gene COL1A1 (collagen type I alpha 1 chain) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCT... | GAACTGGGCACACTCACCATCTGACCAGGAGCTCCATTTTCACCAGGGCTGCCAGGCTCACCCTGTAGATCAGAGAATAATGAGTGAGAAATTCATTCATGGTGGGACTCTGGGGATGTGGAGGACCATGATGTTCAGACAGCCTCTTACCTTAGGACCAGCAGGACCAGCATCTCCCTTGGCACCATCCAAACCACTGAAACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGAGGGGGTGGAACAGCCTTGACATCCACCTAGATCTGAGAAAGAGCCTTGGGAGGTCATCACCGCCATCCCTTTGTTTCT... | benign | 279,012 |
Evaluate this variant at chromosome 17, position 50199237, gene COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Osteogenesis_imperfecta_type_I', 'Osteogenesis_imperfecta_type_III', 'Osteogenesis_imperfecta_with_normal_sclerae,_dominant_form'] | AGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGG... | AGGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGG... | pathogenic | 279,019 |
Is the variant located on chromosome 17 at position 50199238, gene COL1A1 (collagen type I alpha 1 chain), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Osteogenesis_imperfecta_type_I'] | GGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGA... | GGAGGCCCACGCTCACCAGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGA... | pathogenic | 279,020 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 50199255, gene COL1A1 (collagen type I alpha 1 chain): what disease(s) if pathogenic? | pathogenic; ['Osteogenesis_imperfecta_type_I'] | AGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTG... | AGGACGACCAGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTG... | pathogenic | 279,021 |
Gene COL1A1 (collagen type I alpha 1 chain) variant at chromosome 17, position 50199264—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['COL1A1-related_disorder', 'Osteogenesis_imperfecta_type_I'] | AGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGA... | AGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGA... | pathogenic | 279,023 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 50199264, gene COL1A1 (collagen type I alpha 1 chain): what disease(s) if pathogenic? | pathogenic; ['Osteogenesis_imperfecta_type_I', 'Osteogenesis_imperfecta_with_normal_sclerae,_dominant_form'] | AGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGA... | AGGTTTTCCAGCTTCCCCCTGAGAGGGAGAGAAAAGACCATCATGCCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGA... | pathogenic | 279,024 |
Benign or pathogenic: chromosome 17, position 50199309, gene COL1A1 (collagen type I alpha 1 chain) variant? Disease(s) if pathogenic? | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAA... | CCTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAA... | pathogenic | 279,028 |
Classify the chromosome 17 variant at position 50199310 affecting gene COL1A1 (collagen type I alpha 1 chain) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAA... | CTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAA... | pathogenic | 279,029 |
Mutation at chromosome 17, position 50199310, within COL1A1 (collagen type I alpha 1 chain): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Osteogenesis_imperfecta_type_I'] | CTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAA... | CTCTGCCTCCCCACCACCGCCTAGGGGCTGGAAAAGTGGAGAAGGTCTCAGTCTTCTTTGGATTGTTGCAGGTCAGGTTTGGGGGCCCAGAATCTTATCTTTGAATCTAGAGCTCAGTTTAAATCTACAGTGAAACCTTCGTTTGGTGAAATCTGAGTGCCTCTAAAGGAATTTCTGTCTACTTCTGTCACCAGCATTTTAATTTCACCATCTGCGCACCAATTTCCCCAAAGGGATGGGGTTGGGGATTGCTCTAAGGTGGCTGGGGTGAGGAGAACAGTCACTTTGTTGGGGACATGGAATCATCTCACTAAGCGAAA... | pathogenic | 279,030 |
Gene COL1A1 (collagen type I alpha 1 chain) variant at chromosome position 50199762 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Combined_osteogenesis_imperfecta_and_Ehlers-Danlos_syndrome_1', 'Ehlers-Danlos_syndrome,_arthrochalasia_type', 'Infantile_cortical_hyperostosis', 'Osteogenesis_imperfecta,_perinatal_lethal', 'Osteogenesis_imperfecta_type_I', 'Osteogenesis_imperfecta_type_III', 'Osteogenesis_imp... | CTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAG... | CTTGCTGGGGATACTTACATCATCTCCATTCTTTCCAGGGGGACCTGGGGGACCTCGGGGACCCATGGGACCCTAGAAAAGATAGAAGAGGTGGTTAGAATATGGATAAGAAAAAAAGAAGGGGAAGGCTGGGATTGAAGGGAAGAGGTAAGGAAGACCCCAGGCCTGGGAGTTCTTCTATAGGAGAGTCTGTGTGTTTGTAGAAGGAGTATGAATCTGTATAGAGAGTGCTTACTGAAGCTCCAGGCTCGCCAGGCTCACCAGGGGGACCTTGGAAGCCTTGGGGACCCTTGAGAAGAAGGAAAAAGATGGGTTAGAAG... | pathogenic | 279,045 |
A genetic variant on chromosome 17, position 50354465, affects the gene XYLT2 (xylosyltransferase 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Inborn_genetic_diseases', 'Spondylo-ocular_syndrome'] | GCTGACATGTCTCTCATCAAGGAGTTCACTACTAGAGGAACATCCAGGGCCTTGGAGCCCAGCCCATTCCACTGCAGGGCAAATGGAATGGCTGCATGCCAGGGGCCTTGGAGCTGGATCTGAAAGCATGGATGGGATTTGGTCAGGCAGGGCAAGTAGGATGGGGGAACGGAGGAGGAGGTGGCTGGACATGCTGTTCAGTCACCACCAGGCCATCTAGGGAAGTGCCTGGATTTGAGGAGAGGCAGCAGGTACCAGAGCACTTAGAGCCAGGAAGCAGGGGCGCAGCAGCGGTAGAGGCGCCCCGCTGCAGGGATCCC... | GCTGACATGTCTCTCATCAAGGAGTTCACTACTAGAGGAACATCCAGGGCCTTGGAGCCCAGCCCATTCCACTGCAGGGCAAATGGAATGGCTGCATGCCAGGGGCCTTGGAGCTGGATCTGAAAGCATGGATGGGATTTGGTCAGGCAGGGCAAGTAGGATGGGGGAACGGAGGAGGAGGTGGCTGGACATGCTGTTCAGTCACCACCAGGCCATCTAGGGAAGTGCCTGGATTTGAGGAGAGGCAGCAGGTACCAGAGCACTTAGAGCCAGGAAGCAGGGGCGCAGCAGCGGTAGAGGCGCCCCGCTGCAGGGATCCC... | pathogenic | 279,079 |
Is the genetic change at chromosome 17, position 50356605, within gene XYLT2 (xylosyltransferase 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Spondylo-ocular_syndrome'] | CACTTCTTTTACATCCATGTGGACAAGGTACTGTGGTGGGGAGAGGCCAAGGGGTCTGGGATGAGCAGAGCAGAAACAGAAGGTTGCAGACAGACAGAGTCTCTGACCTGGCCCAGGTAGCCTAGGAGGGAAACTGAGGCCCTGAACAGGGGAGTGGCAGCACGAGCCAGCTCAGCCGCTTAGGGGCTGGAGCCCTGCCCTGTGCTTTCCTCGTCTTGTGTCCCTTCACTCTGTCCTGGGGTGGGATTGGGGATGGCGATAACACTGGAGGCTAGCTGAGTGTCTCCTCCCCACCAGCGTTCCGACTACCTGCACCGGGA... | CACTTCTTTTACATCCATGTGGACAAGGTACTGTGGTGGGGAGAGGCCAAGGGGTCTGGGATGAGCAGAGCAGAAACAGAAGGTTGCAGACAGACAGAGTCTCTGACCTGGCCCAGGTAGCCTAGGAGGGAAACTGAGGCCCTGAACAGGGGAGTGGCAGCACGAGCCAGCTCAGCCGCTTAGGGGCTGGAGCCCTGCCCTGTGCTTTCCTCGTCTTGTGTCCCTTCACTCTGTCCTGGGGTGGGATTGGGGATGGCGATAACACTGGAGGCTAGCTGAGTGTCTCCTCCCCACCAGCGTTCCGACTACCTGCACCGGGA... | pathogenic | 279,093 |
Regarding the variant found on chromosome 17 at position 56844157 in gene DGKE (diacylglycerol kinase epsilon): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Atypical_hemolytic-uremic_syndrome', 'Immunoglobulin-mediated_membranoproliferative_glomerulonephritis'] | CCAGATATATATACATCATACTTCTAAGCTGAAAAACAAACGTATACACTATAAAACTGAGAATAAATAAGTCAAAAAGTTAAGAGTGACTCTCTGGATGATTTTTATTTTATGCCTTTTTGTATTTTTAAATTTTTATAAGCTAGTATTTAAAATAATTTTTAAAATTTATACAAGTAGTTCATGTTTATATTCTGGTTTTTAGGATCTCAAGGAATACATACAAAAAAAACATAGCCTAAAAACTTAATATTCTTCCCATTCCTCAGTCCTACTTTTCTTCCCAGAGGAAACCATTATGAAATAATTCAGTGGGTATC... | CCAGATATATATACATCATACTTCTAAGCTGAAAAACAAACGTATACACTATAAAACTGAGAATAAATAAGTCAAAAAGTTAAGAGTGACTCTCTGGATGATTTTTATTTTATGCCTTTTTGTATTTTTAAATTTTTATAAGCTAGTATTTAAAATAATTTTTAAAATTTATACAAGTAGTTCATGTTTATATTCTGGTTTTTAGGATCTCAAGGAATACATACAAAAAAAACATAGCCTAAAAACTTAATATTCTTCCCATTCCTCAGTCCTACTTTTCTTCCCAGAGGAAACCATTATGAAATAATTCAGTGGGTATC... | pathogenic | 279,292 |
For chromosome 17, position 56844157, gene DGKE (diacylglycerol kinase epsilon): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Immunoglobulin-mediated_membranoproliferative_glomerulonephritis', 'Nephrotic_syndrome'] | CCAGATATATATACATCATACTTCTAAGCTGAAAAACAAACGTATACACTATAAAACTGAGAATAAATAAGTCAAAAAGTTAAGAGTGACTCTCTGGATGATTTTTATTTTATGCCTTTTTGTATTTTTAAATTTTTATAAGCTAGTATTTAAAATAATTTTTAAAATTTATACAAGTAGTTCATGTTTATATTCTGGTTTTTAGGATCTCAAGGAATACATACAAAAAAAACATAGCCTAAAAACTTAATATTCTTCCCATTCCTCAGTCCTACTTTTCTTCCCAGAGGAAACCATTATGAAATAATTCAGTGGGTATC... | CCAGATATATATACATCATACTTCTAAGCTGAAAAACAAACGTATACACTATAAAACTGAGAATAAATAAGTCAAAAAGTTAAGAGTGACTCTCTGGATGATTTTTATTTTATGCCTTTTTGTATTTTTAAATTTTTATAAGCTAGTATTTAAAATAATTTTTAAAATTTATACAAGTAGTTCATGTTTATATTCTGGTTTTTAGGATCTCAAGGAATACATACAAAAAAAACATAGCCTAAAAACTTAATATTCTTCCCATTCCTCAGTCCTACTTTTCTTCCCAGAGGAAACCATTATGAAATAATTCAGTGGGTATC... | pathogenic | 279,293 |
Evaluate the clinical significance of the mutation at chromosome 17, position 56849198 in gene DGKE (diacylglycerol kinase epsilon): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Immunoglobulin-mediated_membranoproliferative_glomerulonephritis'] | AGTTACTTGCATTTTTATGTCATTTTCTATGTATTGCAAAATTGCTTTCCAGAAATTTGTGCTAAGTTGCACTGGTGATTTTTTTTTAAGCCAGTATAAGATATGAAACACTAATTAAAGGTGAACTTAGCACATTGTGGTTTATGTGAACAAGAAGGAGGCAATGTGGTATAGTAGATAAACTATAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTTTGTTGCCGAAGCTGGAGTGCAGGGGCATGATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTAGCTAG... | AGTTACTTGCATTTTTATGTCATTTTCTATGTATTGCAAAATTGCTTTCCAGAAATTTGTGCTAAGTTGCACTGGTGATTTTTTTTTAAGCCAGTATAAGATATGAAACACTAATTAAAGGTGAACTTAGCACATTGTGGTTTATGTGAACAAGAAGGAGGCAATGTGGTATAGTAGATAAACTATAACTTTTTTTTTTTTTTGAGACAGAGTCTTGCTTTGTTGCCGAAGCTGGAGTGCAGGGGCATGATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTAGCTAG... | pathogenic | 279,304 |
Mutation at chromosome 17, position 56862167, within DGKE (diacylglycerol kinase epsilon): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['DGKE-related_disorder', 'Immunoglobulin-mediated_membranoproliferative_glomerulonephritis'] | TTTTTAATTATACAGAAATAAAATAAATTTTATTTATATACCTACAAAATAGTCATTGTCCTCGATACTGGAGGTAGACAGTGATAAATCCCTTGCTCTACATTTACAGTCTAGGGTGAAGAAAGATATTTAAGCCAGTCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCTTGAGGCAAGGAGACTAGCCTGGGCAACATAGTGAGACTCCACTTTTATAAAAAATAAAAATAGCTGAGCATAGTGGCATGTACCTGTGGTCCTAGCTGCTCAGGAGGCTGAGGGAGGC... | TTTTTAATTATACAGAAATAAAATAAATTTTATTTATATACCTACAAAATAGTCATTGTCCTCGATACTGGAGGTAGACAGTGATAAATCCCTTGCTCTACATTTACAGTCTAGGGTGAAGAAAGATATTTAAGCCAGTCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCTTGAGGCAAGGAGACTAGCCTGGGCAACATAGTGAGACTCCACTTTTATAAAAAATAAAAATAGCTGAGCATAGTGGCATGTACCTGTGGTCCTAGCTGCTCAGGAGGCTGAGGGAGGC... | pathogenic | 279,308 |
Regarding the variant found on chromosome 17 at position 58206040 in gene MKS1 (MKS transition zone complex subunit 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TTGGTATTGCCCGAGTTCAAATCCAGCCCTGGCCACTTAAATTACTGTGCACTTAATACTGGGCAATTTATTTGGCCACTGAATTTGTTTCATTTCTGAGATTCCAATCTTGCAGGAATTTTGTGAGAATTGAATGGAATAATATATGTAAAGTACCTGGCACACAACAGGTGCTCATTATAAGGTAATTCCTCCCCAGCCTTCACCCACATCTCTCGACTGCCTGGTAGGTTCTGGTGGCAGAAACGAGGTGTTTTCACCAAAAGACAGCGCAAGGCCCTGAGCAGAATTTCCTTGTCTCGAATTATATGTGACAATAC... | TTGGTATTGCCCGAGTTCAAATCCAGCCCTGGCCACTTAAATTACTGTGCACTTAATACTGGGCAATTTATTTGGCCACTGAATTTGTTTCATTTCTGAGATTCCAATCTTGCAGGAATTTTGTGAGAATTGAATGGAATAATATATGTAAAGTACCTGGCACACAACAGGTGCTCATTATAAGGTAATTCCTCCCCAGCCTTCACCCACATCTCTCGACTGCCTGGTAGGTTCTGGTGGCAGAAACGAGGTGTTTTCACCAAAAGACAGCGCAAGGCCCTGAGCAGAATTTCCTTGTCTCGAATTATATGTGACAATAC... | benign | 279,345 |
Variant at chromosome position 58206501, chromosome 17, gene MKS1 (MKS transition zone complex subunit 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_28', 'MKS1-related_disorder', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_1'] | CAGCACCCTGGGCTGGGTTAAGCCCTCACATCCTTCCCTGGATGGATGGCTGAGTCCTCTTAGGTCTCTAAGCAGAGAAAACAGAACTTGTCACTAGGTACTCTTTCCAAGTGGCTTCCCAATGTGCTAGTTTCTGGGCTGACAGTCAATTCCAGGCCCTAGGACTTTGGGGGGAAATTAGGAGCATCCAACTATCCTCAGCTTGGTCACTAATACCTGAAAACAGCTCCATTTCTAAACATCCAGTAAATTCCTGACTTATCCAGTTCTGTTACTTCCACAGGAGTCTATCCCAAGTCTCCAACTTTTGGAGACAAGGG... | CAGCACCCTGGGCTGGGTTAAGCCCTCACATCCTTCCCTGGATGGATGGCTGAGTCCTCTTAGGTCTCTAAGCAGAGAAAACAGAACTTGTCACTAGGTACTCTTTCCAAGTGGCTTCCCAATGTGCTAGTTTCTGGGCTGACAGTCAATTCCAGGCCCTAGGACTTTGGGGGGAAATTAGGAGCATCCAACTATCCTCAGCTTGGTCACTAATACCTGAAAACAGCTCCATTTCTAAACATCCAGTAAATTCCTGACTTATCCAGTTCTGTTACTTCCACAGGAGTCTATCCCAAGTCTCCAACTTTTGGAGACAAGGG... | pathogenic | 279,354 |
Does the genetic variant at chromosome 17, position 58206543, impacting gene MKS1 (MKS transition zone complex subunit 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_28', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_1'] | TGGATGGCTGAGTCCTCTTAGGTCTCTAAGCAGAGAAAACAGAACTTGTCACTAGGTACTCTTTCCAAGTGGCTTCCCAATGTGCTAGTTTCTGGGCTGACAGTCAATTCCAGGCCCTAGGACTTTGGGGGGAAATTAGGAGCATCCAACTATCCTCAGCTTGGTCACTAATACCTGAAAACAGCTCCATTTCTAAACATCCAGTAAATTCCTGACTTATCCAGTTCTGTTACTTCCACAGGAGTCTATCCCAAGTCTCCAACTTTTGGAGACAAGGGGAAGGGGAGGACCATGAGGCTGCCTTGTCTCCCTGGAGCAAG... | TGGATGGCTGAGTCCTCTTAGGTCTCTAAGCAGAGAAAACAGAACTTGTCACTAGGTACTCTTTCCAAGTGGCTTCCCAATGTGCTAGTTTCTGGGCTGACAGTCAATTCCAGGCCCTAGGACTTTGGGGGGAAATTAGGAGCATCCAACTATCCTCAGCTTGGTCACTAATACCTGAAAACAGCTCCATTTCTAAACATCCAGTAAATTCCTGACTTATCCAGTTCTGTTACTTCCACAGGAGTCTATCCCAAGTCTCCAACTTTTGGAGACAAGGGGAAGGGGAGGACCATGAGGCTGCCTTGTCTCCCTGGAGCAAG... | pathogenic | 279,355 |
The chromosome 17, position 58206552 genetic variant in gene MKS1 (MKS transition zone complex subunit 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Inborn_genetic_diseases', 'Joubert_syndrome_28', 'MKS1-related_disorder', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_1'] | GAGTCCTCTTAGGTCTCTAAGCAGAGAAAACAGAACTTGTCACTAGGTACTCTTTCCAAGTGGCTTCCCAATGTGCTAGTTTCTGGGCTGACAGTCAATTCCAGGCCCTAGGACTTTGGGGGGAAATTAGGAGCATCCAACTATCCTCAGCTTGGTCACTAATACCTGAAAACAGCTCCATTTCTAAACATCCAGTAAATTCCTGACTTATCCAGTTCTGTTACTTCCACAGGAGTCTATCCCAAGTCTCCAACTTTTGGAGACAAGGGGAAGGGGAGGACCATGAGGCTGCCTTGTCTCCCTGGAGCAAGTGCAGGCTG... | GAGTCCTCTTAGGTCTCTAAGCAGAGAAAACAGAACTTGTCACTAGGTACTCTTTCCAAGTGGCTTCCCAATGTGCTAGTTTCTGGGCTGACAGTCAATTCCAGGCCCTAGGACTTTGGGGGGAAATTAGGAGCATCCAACTATCCTCAGCTTGGTCACTAATACCTGAAAACAGCTCCATTTCTAAACATCCAGTAAATTCCTGACTTATCCAGTTCTGTTACTTCCACAGGAGTCTATCCCAAGTCTCCAACTTTTGGAGACAAGGGGAAGGGGAGGACCATGAGGCTGCCTTGTCTCCCTGGAGCAAGTGCAGGCTG... | pathogenic | 279,356 |
Mutation at chromosome 17, position 58207097, within MKS1 (MKS transition zone complex subunit 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_28', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_1'] | CCCTCCCCTCCCTCACCATGACTAAGAGACCACTCGGTCCTAGCCTCCAGACACCCCACAATACTCCTCTGAGCCTGAGGCCAGGCAGCATGCTCTGCTTCTACCAATAAAGCACTGCTAAGGGCAGGGGCTGCTGTTTCTGTGTTGGGCTAGGGAAGACGTGGCCTCAGTTCCATGCTTTGCTCCAGATGTTTAAGAGAAGTGCTGTTAACACGCAAGCTGGCACAACCATCTAAGCCTCTCCTGGGGGCTGAATTAGGAGAGCCCAAAGAAACACTGTGGAGTAGGGAAAGGCAGAAAAGGGGAAGGGCAGACATGGT... | CCCTCCCCTCCCTCACCATGACTAAGAGACCACTCGGTCCTAGCCTCCAGACACCCCACAATACTCCTCTGAGCCTGAGGCCAGGCAGCATGCTCTGCTTCTACCAATAAAGCACTGCTAAGGGCAGGGGCTGCTGTTTCTGTGTTGGGCTAGGGAAGACGTGGCCTCAGTTCCATGCTTTGCTCCAGATGTTTAAGAGAAGTGCTGTTAACACGCAAGCTGGCACAACCATCTAAGCCTCTCCTGGGGGCTGAATTAGGAGAGCCCAAAGAAACACTGTGGAGTAGGGAAAGGCAGAAAAGGGGAAGGGCAGACATGGT... | pathogenic | 279,360 |
Does the chromosome 17 mutation at position 58208143 within gene MKS1 (MKS transition zone complex subunit 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_1'] | CCAGAGGGGCTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTC... | CCAGAGGGGCTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTC... | pathogenic | 279,369 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 58208152, gene MKS1 (MKS transition zone complex subunit 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_13', 'Chronic_kidney_disease', 'Familial_aplasia_of_the_vermis', 'Global_developmental_delay', 'Joubert_syndrome_28', 'Limb_undergrowth', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_1', 'Polydactyly', 'Rotary_nystagmus'] | CTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTCTCCACCCCT... | CTCACTAGGTCCTGCGGGAGGCTTTCCCGGGCCTCCTGCATGCGGCGCCGGGCTCGACGGAAGGCCTCTGTAAGGAAAGGAGATATGCTATTTGGCTGCCATATGGTATTTCTCTCTGCACTGCAGAGAGAAACAGGCCCATGCTGACCTGGGGTGGCCAGCTGGGGGAGGGGACATACCTAGCACATTGTGAATGGAACTCTGCTGGCTGAACCCTTCCAGACGGTCCAACACACTCCGCATCCTTTTCTGAAGGGAGCTCGATTCCATGAAGGCCCTGCAGGGAGGCCAGCCACATGGTTACGGCTGTCTCCACCCCT... | pathogenic | 279,370 |
Clinical classification of chromosome 17, position 58208536, gene MKS1 (MKS transition zone complex subunit 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_28', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_1'] | GCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATT... | GCGGAAGGTGACAGTGCCTGTGGTCTCTGTGCGGAGTCCAAAGCGGCTCAGGCGTTCCCCCTGTGGCATGCCATTGGGACAGCCTCAGGTTTCTGCTCTCTCTAGACACCCCCGCACCATGCTGGCCTCACCCCCATTCTTATTCCCATTCTTGGGAAGCGCAGTTCTGTTGGGGAAACCTTATTCCATCACCCAGACTCTATTACCTCAAGGCTAATACTGGGCTATTGGGCTCCCCCAACTAAACCAGGGAACATTCCAACCTCATTTGAGAAGCGGCGGTCTTATATGCTTACTGTGAATCCTCCCCACATCTGATT... | pathogenic | 279,373 |
Considering the genetic mutation at chromosome 17, position 58212356, impacting MKS1 (MKS transition zone complex subunit 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TAACAGAAGGCCTTGGCTTAGCTGTGGGTACTCTCACGGTTTAAGATCAACAGAAGGGAAGGCATCACCCAAGAAGGATGAGGGGCCACCAGCGAGATAGGAGAGAGAAGTGTGGAGCCAGAAGCCAGAGAAGTGTGTCATGCAGCACAGTGGGCTCTGGAAAATGCTTCAGGAAGGTCAAGCGAGGTGAAAGCAGGGAAGTCTCCACTGGGTTTGGTAAAGTGGATGTGATCTATGACCTTGAAAAGAACAGTAACAGTTTCAGCAGAGGAGTGGGAAAGGAAGCCTGACCAAATGCCTCTAGATCTGTCTGAATGGGT... | TAACAGAAGGCCTTGGCTTAGCTGTGGGTACTCTCACGGTTTAAGATCAACAGAAGGGAAGGCATCACCCAAGAAGGATGAGGGGCCACCAGCGAGATAGGAGAGAGAAGTGTGGAGCCAGAAGCCAGAGAAGTGTGTCATGCAGCACAGTGGGCTCTGGAAAATGCTTCAGGAAGGTCAAGCGAGGTGAAAGCAGGGAAGTCTCCACTGGGTTTGGTAAAGTGGATGTGATCTATGACCTTGAAAAGAACAGTAACAGTTTCAGCAGAGGAGTGGGAAAGGAAGCCTGACCAAATGCCTCTAGATCTGTCTGAATGGGT... | benign | 279,382 |
Clinical significance of chromosome 17, position 58213034, gene MKS1 (MKS transition zone complex subunit 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome'] | CTCCATTTACAAAGAGCCGGAGGGCACCTGGGACAGTCTAAGGTGAAGAGAAGTGGGAAAGGATCAGCAGGCCTGGAGGGAATTGGCACTTCTCCTCCAGCCCCATCTACAAATCTGCAGACGACCTGCCACTAGGGGTCAGGCCCTGGGTGTCACTACTGCACTTTCTCCCCACCCTGACACTTCTCCACAGATCTGTTTCCTTCATTCCTAAGATTCACAATGTAGGGGGAAAGTACATAATTTAAATGGCAGTGAGGACAATGCACTATGGGAAATTATTCAAGCAACAGCAACTGTCCTGTGGTGTGCAATGGGAA... | CTCCATTTACAAAGAGCCGGAGGGCACCTGGGACAGTCTAAGGTGAAGAGAAGTGGGAAAGGATCAGCAGGCCTGGAGGGAATTGGCACTTCTCCTCCAGCCCCATCTACAAATCTGCAGACGACCTGCCACTAGGGGTCAGGCCCTGGGTGTCACTACTGCACTTTCTCCCCACCCTGACACTTCTCCACAGATCTGTTTCCTTCATTCCTAAGATTCACAATGTAGGGGGAAAGTACATAATTTAAATGGCAGTGAGGACAATGCACTATGGGAAATTATTCAAGCAACAGCAACTGTCCTGTGGTGTGCAATGGGAA... | pathogenic | 279,389 |
Does the chromosome 17 mutation at position 58214269 within gene MKS1 (MKS transition zone complex subunit 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome'] | AAACACATAACAAGGACTATATGTGCTATTCTTTGACTTCCTTTTCACACTGTAGAGTATACCTTTGGGCCTTTAAGAGAGGTAGTGTAACTCATCCACAGTCAGAATGCTCCGGCTAAACACAGCTCACAGTGCTGCAGGAAGCCAAGCTACTCACCATCTCAAAGTCGGTGCCTACGAGGCTGCTGAGATACTCCTTGTGCCGGCCATAAAGCTGAGGAAACAAACCAAACCAAAACTCAAGATGCAACCCAAGCTAGACCAAAGTTCAGTTCTGAATGGGAAGAAGAAAAGCAATAGTGGGAAGGGTCAGCAAGAGC... | AAACACATAACAAGGACTATATGTGCTATTCTTTGACTTCCTTTTCACACTGTAGAGTATACCTTTGGGCCTTTAAGAGAGGTAGTGTAACTCATCCACAGTCAGAATGCTCCGGCTAAACACAGCTCACAGTGCTGCAGGAAGCCAAGCTACTCACCATCTCAAAGTCGGTGCCTACGAGGCTGCTGAGATACTCCTTGTGCCGGCCATAAAGCTGAGGAAACAAACCAAACCAAAACTCAAGATGCAACCCAAGCTAGACCAAAGTTCAGTTCTGAATGGGAAGAAGAAAAGCAATAGTGGGAAGGGTCAGCAAGAGC... | pathogenic | 279,395 |
Variant in MKS1 (MKS transition zone complex subunit 1), chromosome 17, position 58216111—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_28', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_1'] | GAAGGGGATAGCTGGTGAGAGGAGAAGAAGATGAGGATCTGAGTTGGCAGTGAGAAGCTTCACTCATAACTAAGAAGAGAAGGAAGAAAAAGTCCCTCCCTCCCCTATAACCTAGGATGATAATAACAGGAAGGGGAGAGCTGGTGAGAGGAGAAAAGGATGAGGCTCTAAGCTGGCAGTGAGAAGCGCCACTCACTTTTTATAGGGCCCCAGGTCTGCCATGATGTGCATTGTCTGAAGAGGGGTGTTAATGACGTGGTTGTTCCTGACAAACTCTTCTGAGGGCTCCCAGGTGACGATGCGTGACTTGAGGATGCCGC... | GAAGGGGATAGCTGGTGAGAGGAGAAGAAGATGAGGATCTGAGTTGGCAGTGAGAAGCTTCACTCATAACTAAGAAGAGAAGGAAGAAAAAGTCCCTCCCTCCCCTATAACCTAGGATGATAATAACAGGAAGGGGAGAGCTGGTGAGAGGAGAAAAGGATGAGGCTCTAAGCTGGCAGTGAGAAGCGCCACTCACTTTTTATAGGGCCCCAGGTCTGCCATGATGTGCATTGTCTGAAGAGGGGTGTTAATGACGTGGTTGTTCCTGACAAACTCTTCTGAGGGCTCCCAGGTGACGATGCGTGACTTGAGGATGCCGC... | pathogenic | 279,404 |
Does the chromosome 17 mutation at position 58218619 within gene MKS1 (MKS transition zone complex subunit 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_28', 'MKS1-related_disorder', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_1'] | AACCTGTCTGGAAATCACTTTGGCAATATGTATCACCAGCCATGTGGAGGTAGACCAGATGGAATAGACAGAGAAGACAAGAGACACTGGCTCACCTGGCTAAAGAGCTTCTCCTGCCACCCAATCACAATCTCCTCCTCTTCGTCTTCCTCTGGGCGGTGTCCACCTCCAAAGACAACAGAGTGAATCAAATGCTTGAGCCAAACCAGCACCACTTCTTGTTCTGTGGTTTATTATAACCAAAGTCCCTATTCTTATATTTGCCACAAAAACTAGCTGGAATTCAGCAATTTAGTAAGCACTCAACCTAGAGAAATGCT... | AACCTGTCTGGAAATCACTTTGGCAATATGTATCACCAGCCATGTGGAGGTAGACCAGATGGAATAGACAGAGAAGACAAGAGACACTGGCTCACCTGGCTAAAGAGCTTCTCCTGCCACCCAATCACAATCTCCTCCTCTTCGTCTTCCTCTGGGCGGTGTCCACCTCCAAAGACAACAGAGTGAATCAAATGCTTGAGCCAAACCAGCACCACTTCTTGTTCTGTGGTTTATTATAACCAAAGTCCCTATTCTTATATTTGCCACAAAAACTAGCTGGAATTCAGCAATTTAGTAAGCACTCAACCTAGAGAAATGCT... | pathogenic | 279,414 |
Is the genetic variant on chromosome 17, position 58218683, gene MKS1 (MKS transition zone complex subunit 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome'] | TAGACAGAGAAGACAAGAGACACTGGCTCACCTGGCTAAAGAGCTTCTCCTGCCACCCAATCACAATCTCCTCCTCTTCGTCTTCCTCTGGGCGGTGTCCACCTCCAAAGACAACAGAGTGAATCAAATGCTTGAGCCAAACCAGCACCACTTCTTGTTCTGTGGTTTATTATAACCAAAGTCCCTATTCTTATATTTGCCACAAAAACTAGCTGGAATTCAGCAATTTAGTAAGCACTCAACCTAGAGAAATGCTAGAGAGGCTGTATATGAGAGTTAGTATGAGTAGAAGCCAAGATTAGAACCCAGGAAGTCTTAGT... | TAGACAGAGAAGACAAGAGACACTGGCTCACCTGGCTAAAGAGCTTCTCCTGCCACCCAATCACAATCTCCTCCTCTTCGTCTTCCTCTGGGCGGTGTCCACCTCCAAAGACAACAGAGTGAATCAAATGCTTGAGCCAAACCAGCACCACTTCTTGTTCTGTGGTTTATTATAACCAAAGTCCCTATTCTTATATTTGCCACAAAAACTAGCTGGAATTCAGCAATTTAGTAAGCACTCAACCTAGAGAAATGCTAGAGAGGCTGTATATGAGAGTTAGTATGAGTAGAAGCCAAGATTAGAACCCAGGAAGTCTTAGT... | pathogenic | 279,416 |
Classify the chromosome 17 variant at position 58218727 affecting gene MKS1 (MKS transition zone complex subunit 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Meckel-Gruber_syndrome'] | TTCTCCTGCCACCCAATCACAATCTCCTCCTCTTCGTCTTCCTCTGGGCGGTGTCCACCTCCAAAGACAACAGAGTGAATCAAATGCTTGAGCCAAACCAGCACCACTTCTTGTTCTGTGGTTTATTATAACCAAAGTCCCTATTCTTATATTTGCCACAAAAACTAGCTGGAATTCAGCAATTTAGTAAGCACTCAACCTAGAGAAATGCTAGAGAGGCTGTATATGAGAGTTAGTATGAGTAGAAGCCAAGATTAGAACCCAGGAAGTCTTAGTCATGACTCTAATTTGAATAAAAGAAAATACCCCCCAGGAATTTT... | TTCTCCTGCCACCCAATCACAATCTCCTCCTCTTCGTCTTCCTCTGGGCGGTGTCCACCTCCAAAGACAACAGAGTGAATCAAATGCTTGAGCCAAACCAGCACCACTTCTTGTTCTGTGGTTTATTATAACCAAAGTCCCTATTCTTATATTTGCCACAAAAACTAGCTGGAATTCAGCAATTTAGTAAGCACTCAACCTAGAGAAATGCTAGAGAGGCTGTATATGAGAGTTAGTATGAGTAGAAGCCAAGATTAGAACCCAGGAAGTCTTAGTCATGACTCTAATTTGAATAAAAGAAAATACCCCCCAGGAATTTT... | pathogenic | 279,417 |
Clinical significance of chromosome 17, position 58219175, gene MKS1: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Bardet-Biedl_syndrome_13', 'Familial_aplasia_of_the_vermis', 'Joubert_syndrome_28', 'Meckel-Gruber_syndrome', 'Meckel_syndrome,_type_1'] | TTACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCA... | TTACAGGCACACACCACCAACCCAGCTAATTTTTGTATTATCAGTAGAGATGGAGTTTTGCCATGTTAGCCAGGCTGATCTTGAATTCCCGACCTCAGGTGATCCACCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGCGTGGGCCACGGCGCTCAGCCCGCTCCAGGAAATATCTAATCTAACTGGATATAAGAAACTGAAATTTAGATATAAGCTGAATAGCCAGCCCTTCCTCAGTCCCAACTGTCTGCATTTGCTAGAAAATAACCCTGGCATTTTTATCTTTACTATTTCTAAAGCCATATATGTAGAATCA... | pathogenic | 279,424 |
Is the variant located on chromosome 17 at position 58273466, gene MPO, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['MPO-related_disorder', 'Myeloperoxidase_deficiency'] | GGCACTTTTCTATCTTCCACCCTTTACAACCAGGGGTCCAGGTCTTTCCTTGCTGCACCCCCAACAGGTTCAGGGCACATTAGGGGCACTCCAGGGCATCTGGAGGATTCCTGGAACACACTGGAAAATTACTGACTCCCTCCAGTCCTTCAACTGACAGGAGGAAATTTGGGCTCCAAGAGAGTCAAGGATGGGCCCACAGCCACCCAGCGGCCCACGACGCCTGCCCCTCCTCACCGATCACCATCCCGGAGCTTCCTGAACTGGGTACCGATGATGCAGGCGAGGAGTGGGCCCACGCGGCCTTTGCGCTTCAGAGG... | GGCACTTTTCTATCTTCCACCCTTTACAACCAGGGGTCCAGGTCTTTCCTTGCTGCACCCCCAACAGGTTCAGGGCACATTAGGGGCACTCCAGGGCATCTGGAGGATTCCTGGAACACACTGGAAAATTACTGACTCCCTCCAGTCCTTCAACTGACAGGAGGAAATTTGGGCTCCAAGAGAGTCAAGGATGGGCCCACAGCCACCCAGCGGCCCACGACGCCTGCCCCTCCTCACCGATCACCATCCCGGAGCTTCCTGAACTGGGTACCGATGATGCAGGCGAGGAGTGGGCCCACGCGGCCTTTGCGCTTCAGAGG... | pathogenic | 279,439 |
Clinical significance of chromosome 17, position 58275625, gene MPO: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Myeloperoxidase_deficiency'] | CACTGAGTCATTGTAGGAACGGTACGTGGGCAGGTACTTCCTCATGGCCGTTGGCCCCAGCACCAGGGGCAGGTAGTCCCGGTAAGTGATGATCTAAAGACAAGTCATTTGGAATGGCCTCTCCACCCACTCCTCCACAGCAAATGCCGCCTGGCAGCACAGGAGGGCCAGAGTCTCTGCCTGCTCTTGGCTTCGGGGACCCCTTCCATCCCTCTATGGTCAGGGAATAGCCTCCCACAATACCGGACCTGGGCCTAACAGAGTGGCACTGAGAGGCATAAATAGAGTTCTACTGCTTGCTGGCTGGGTGACCTTGGACC... | CACTGAGTCATTGTAGGAACGGTACGTGGGCAGGTACTTCCTCATGGCCGTTGGCCCCAGCACCAGGGGCAGGTAGTCCCGGTAAGTGATGATCTAAAGACAAGTCATTTGGAATGGCCTCTCCACCCACTCCTCCACAGCAAATGCCGCCTGGCAGCACAGGAGGGCCAGAGTCTCTGCCTGCTCTTGGCTTCGGGGACCCCTTCCATCCCTCTATGGTCAGGGAATAGCCTCCCACAATACCGGACCTGGGCCTAACAGAGTGGCACTGAGAGGCATAAATAGAGTTCTACTGCTTGCTGGCTGGGTGACCTTGGACC... | pathogenic | 279,442 |
Is the genetic variant on chromosome 17, position 58692684, gene RAD51C (RAD51 paralog C), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Hereditary_cancer-predisposing_syndrome'] | GATAGTATTTATGCATCCACTGAGCGCTCAAATATAGACCATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAG... | GATAGTATTTATGCATCCACTGAGCGCTCAAATATAGACCATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAG... | pathogenic | 279,592 |
Variant at chromosome 17, position 58692690, gene RAD51C (RAD51 paralog C): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | ATTTATGCATCCACTGAGCGCTCAAATATAGACCATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCC... | ATTTATGCATCCACTGAGCGCTCAAATATAGACCATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCC... | pathogenic | 279,593 |
Clinically, how would you classify the variant at chromosome 17, position 58692693, gene RAD51C (RAD51 paralog C): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | TATGCATCCACTGAGCGCTCAAATATAGACCATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCC... | TATGCATCCACTGAGCGCTCAAATATAGACCATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCC... | pathogenic | 279,594 |
Regarding the variant at chromosome 17 and position 58692706, affecting gene RAD51C (RAD51 paralog C): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Ovarian_neoplasm'] | AGCGCTCAAATATAGACCATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTC... | AGCGCTCAAATATAGACCATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTC... | pathogenic | 279,598 |
A genetic variant on chromosome 17, position 58692716, affects the gene RAD51C (RAD51 paralog C). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O'] | TATAGACCATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTG... | TATAGACCATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTG... | pathogenic | 279,604 |
Considering the genetic mutation at chromosome 17, position 58692723, impacting RAD51C (RAD51 paralog C): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O'] | CATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGAC... | CATATTAGAAGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGAC... | pathogenic | 279,608 |
Variant at chromosome 17, position 58692732, gene RAD51C (RAD51 paralog C): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Inherited_ovarian_cancer_(without_breast_cancer)', 'Ovarian_neoplasm', 'likely other unspecified diseases'] | AGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATG... | AGTTAAGCAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATG... | pathogenic | 279,611 |
A genetic alteration at chromosome 17, position 58692739, in gene RAD51C (RAD51 paralog C)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | CAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCAT... | CAATGGGTTGAGTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCAT... | pathogenic | 279,615 |
Chromosome 17, position 58692750, gene RAD51C (RAD51 paralog C): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O'] | GTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAAT... | GTGGCCAACCACATTTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAAT... | pathogenic | 279,619 |
Gene RAD51C (RAD51 paralog C) variant at chromosome 17, position 58692764—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | TTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTG... | TTTGGCCAGTCCTACAAGACTTTCTTTGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTG... | pathogenic | 279,624 |
Clinical significance of chromosome 17, position 58692790, gene RAD51C: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O'] | TGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGT... | TGACCTACCAAATGGGGTATAAATGCTTCTCGTATTCTCCCCGCCAGTAGGGACTCAAAATCTTAATAGCTCGGGGTAGTAAAAAGGATGCTAGGTTTGAATCTTGGCTTTAAGAAAACTGTGCTGAGGTGTTTTGTTTGTTTGAGACAGGGTTTCACTCTATCACCCAAGCTGGAGTGCAGTGGCGTGATCATAGCTCACTCCCAGGCTGAAGGGATCCTCCCACCACAGACTTCTGAGTAGCTGGGACGACCGGTGCATGCCACCATGCCCGGCTAATTTTTTGTACTTTTGGTACAGACAGTGTTTCGCCATGTTGT... | pathogenic | 279,634 |
Is the genetic change at chromosome 17, position 58694926, within gene RAD51C (RAD51 paralog C) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Carcinoma_of_colon', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | CTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAG... | CTCCGTTAGATTCTGCTTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAG... | pathogenic | 279,642 |
Evaluate this variant at chromosome 17, position 58694942, gene RAD51C (RAD51 paralog C): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | TTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATT... | TTCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATT... | pathogenic | 279,644 |
Is the genetic change at chromosome 17, position 58694943, within gene RAD51C (RAD51 paralog C) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome', 'RAD51C-related_disorder'] | TCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTT... | TCCTCCCACGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTT... | pathogenic | 279,645 |
Is the variant located on chromosome 17 at position 58694951, gene RAD51C (RAD51 paralog C), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O'] | CGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATG... | CGTCCATGTTTACAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATG... | pathogenic | 279,647 |
Is the variant located on chromosome 17 at position 58694963, gene RAD51C (RAD51 paralog C), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome', 'RAD51C-related_disorder'] | CAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTG... | CAGCGTGAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTG... | pathogenic | 279,648 |
Is the genetic change at chromosome 17, position 58694969, within gene RAD51C (RAD51 paralog C) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'RAD51C-related_disorder'] | GAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGAC... | GAAAGAGCTCCTCGACTCCACTTACAAGTTGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGAC... | pathogenic | 279,649 |
Regarding the variant found on chromosome 17 at position 58694998 in gene RAD51C (RAD51 paralog C): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | TGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTA... | TGTCTGAATGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTA... | pathogenic | 279,660 |
Variant at chromosome 17, position 58695006, gene RAD51C (RAD51 paralog C): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'RAD51C-related_disorder'] | TGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCC... | TGGTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCC... | pathogenic | 279,661 |
Clinical significance of chromosome 17, position 58695008, gene RAD51C (RAD51 paralog C): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm', 'RAD51C-related_disorder'] | GTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGG... | GTTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGG... | pathogenic | 279,662 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 58695009, gene RAD51C (RAD51 paralog C): what disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGA... | TTAGGAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGA... | pathogenic | 279,663 |
A genetic alteration at chromosome 17, position 58695013, in gene RAD51C (RAD51 paralog C)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | GAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCT... | GAGAACTGTGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCT... | pathogenic | 279,666 |
Benign or pathogenic: chromosome 17, position 58695021, gene RAD51C (RAD51 paralog C) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | TGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAG... | TGGTCGTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAG... | pathogenic | 279,668 |
Evaluate the clinical significance of the mutation at chromosome 17, position 58695026 in gene RAD51C (RAD51 paralog C): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Hereditary_cancer-predisposing_syndrome'] | GTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAG... | GTGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAG... | pathogenic | 279,673 |
Determine whether the variant at chromosome 17, position 58695027, in gene RAD51C (RAD51 paralog C) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | TGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGA... | TGAAAACATTTACTAATTGCTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGA... | pathogenic | 279,674 |
Variant in gene RAD51C (RAD51 paralog C), located at chromosome 17 position 58695046: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | CTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTA... | CTTTTCCTCTGGCAATGCCTGCTGAATGCTTTGAGGATTGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTA... | pathogenic | 279,679 |
Considering the genetic mutation at chromosome 17, position 58695084, impacting RAD51C (RAD51 paralog C): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Hereditary_cancer-predisposing_syndrome'] | TGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCAT... | TGTCTCATTTAACCCTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCAT... | pathogenic | 279,691 |
Gene RAD51C (RAD51 paralog C) variant at chromosome position 58695098 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O'] | CTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACC... | CTCAACCCGCTTACGTAGATTATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACC... | pathogenic | 279,694 |
The mutation in gene RAD51C (RAD51 paralog C) at chromosome 17, position 58695118—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | TATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACA... | TATTATATTCAGTATATGGATGAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACA... | pathogenic | 279,698 |
Chromosome 17, position 58695139, gene RAD51C (RAD51 paralog C): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O'] | GAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTC... | GAGAGAACTGATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTC... | pathogenic | 279,705 |
Variant at chromosome 17, position 58695148, gene RAD51C (RAD51 paralog C): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | GATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGT... | GATATCTTGGGGAGCTTAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGT... | pathogenic | 279,708 |
Considering the genetic mutation at chromosome 17, position 58695164, impacting RAD51C (RAD51 paralog C): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Breast_and/or_ovarian_cancer', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | TAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGA... | TAGGTAACTTTTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGA... | pathogenic | 279,712 |
The mutation impacting RAD51C (RAD51 paralog C) on chromosome 17 at position 58695174: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | TTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGA... | TTCATGCTAACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGA... | pathogenic | 279,714 |
Considering the variant on chromosome 17, location 58695182, involving gene RAD51C (RAD51 paralog C), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3'] | AACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCT... | AACTGGGTTAGGAAATACTGGAGTCAGAATTGGTTGTCTAATTTTTGCTGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCT... | pathogenic | 279,718 |
Clinical classification of chromosome 17, position 58695230, gene RAD51C (RAD51 paralog C): benign or pathogenic? Disease(s) if pathogenic? | benign | TGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGA... | TGTTCCAAGATCCAAGGGGTAAGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGA... | benign | 279,728 |
Regarding the variant at chromosome 17 and position 58695251, affecting gene RAD51C (RAD51 paralog C): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | AGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAA... | AGGGTTAAATTTCAGAAATGCAGGATTTTGTGTAGGACTAGAGACACTAAGAATGAGAAAGAGAGTAGAATCCCCGGAATCTTGAGGAAGCATAGAAAGAATATTCTCTTACGTAATTAACTGAAACACCCAAAACCTCATATTCCAGAGCATTGCAGATGGGAACCACTGCATCCTGAGACATACAAATATGAGGCTGGCGGTGGTCACTTGTTGTGCACATCTCTCTATGACATGTCTGGACCTGTGCTATTCACTGAAGAAGATGGAACAGAATTTTAAGTTACTGCCCTTACTGATGGAAAATACAGAGGTTTCAA... | benign | 279,729 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 58696689, gene RAD51C (RAD51 paralog C). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Hereditary_cancer-predisposing_syndrome'] | ATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAG... | ATTTTTGTATTTTTAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAG... | pathogenic | 279,732 |
Determine if the mutation at chromosome 17, position 58696719 in gene RAD51C (RAD51 paralog C) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | CACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTC... | CACCATGTTGGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTC... | pathogenic | 279,743 |
Gene RAD51C (RAD51 paralog C) variant at chromosome 17, position 58696728—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | GGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATA... | GGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATA... | pathogenic | 279,745 |
Clinically, how would you classify the variant at chromosome 17, position 58696728, gene RAD51C (RAD51 paralog C): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | GGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATA... | GGCCAGGCTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATA... | pathogenic | 279,746 |
Gene RAD51C (RAD51 paralog C) variant at chromosome 17, position 58696735—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | CTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAG... | CTGGTCTTCAACTCCTGACCTCAGGTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAG... | pathogenic | 279,748 |
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