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 |
|---|---|---|---|---|---|
Variant chromosome 17, position 58696759, gene RAD51C (RAD51 paralog C): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O'] | GTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACA... | GTGATCTGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACA... | pathogenic | 279,752 |
Gene RAD51C (RAD51 paralog C) variant at chromosome position 58696765 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', 'Hereditary_cancer-predisposing_syndrome'] | TGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAA... | TGGCTGCCTCAGCCTCCCAAAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAA... | pathogenic | 279,754 |
Does the chromosome 17 mutation at position 58696784 within gene RAD51C (RAD51 paralog C) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | AAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTT... | AAGTACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTT... | pathogenic | 279,759 |
Determine if the mutation at chromosome 17, position 58696787 in gene RAD51C (RAD51 paralog C) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | TACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTT... | TACTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTT... | pathogenic | 279,760 |
Does the variant on chromosome 17 at location 58696789 affecting gene RAD51C (RAD51 paralog C) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O'] | CTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGA... | CTGGGATTTTAGGCATGAGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGA... | pathogenic | 279,761 |
Variant at chromosome position 58696806, chromosome 17, gene RAD51C (RAD51 paralog C): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | AGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGG... | AGCCACTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGG... | pathogenic | 279,765 |
Gene RAD51C (RAD51 paralog C) variant at chromosome 17, position 58696811—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', 'Ovarian_neoplasm'] | CTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTC... | CTGTGTCCGGCCAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTC... | pathogenic | 279,767 |
Clinical classification of chromosome 17, position 58696822, gene RAD51C (RAD51 paralog C): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | CAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTT... | CAAACTGAAAAATTAAATGGTTGATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTT... | pathogenic | 279,769 |
Variant at chromosome 17, position 58696845, 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'] | ATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTC... | ATAGAATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTC... | pathogenic | 279,773 |
Variant at chromosome position 58696849, chromosome 17, gene RAD51C (RAD51 paralog C): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | AATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGG... | AATGTTGCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGG... | pathogenic | 279,775 |
Does the genetic variant at chromosome 17, position 58696855, impacting gene RAD51C (RAD51 paralog C), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Hereditary_cancer-predisposing_syndrome'] | GCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGG... | GCATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGG... | pathogenic | 279,779 |
Benign or pathogenic: chromosome 17, position 58696857, gene RAD51C (RAD51 paralog C) variant? 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'] | ATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAG... | ATTTTTATGTTTCTCCACTCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAG... | pathogenic | 279,780 |
A genetic variant at chromosome 17, position 58696875, affecting gene RAD51C (RAD51 paralog C)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAA... | TCCTAGCATCACTGTTGTCTACAAATTAATAAAGACAATCGATTATCATGTTACACTTTTAAATCTCTAAAATTAGGGTTCTTTTTTTCTTATTTTACTTTCAGAAGTTGGGATATCTAAAGCAGAAGCCTTAGAAACTCTGCAAATTATCAGAAGAGAATGTCTCACAAATAAACCAAGATATGCTGGTACATCTGAGTCACACAAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATACCCAGGGCTTCATAATCACCTTCTGTTCAGCACTAGATGATATTCTTGGGGGTGGAGTGCCCTTAATGAAAACAA... | benign | 279,787 |
Is the genetic variant on chromosome 17, position 58703173, gene RAD51C (RAD51 paralog C), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | TCACGGGCTCAAGAGATCTGCGTGCCTTGGCCTCCTAAAGTGTTAGAATTACAGGCGTGAGCCACCACGCCTGGCTAAGTGCATTTTAAAATGCAGTAACTGGCCGGGTGTGGTGACTCACTGCCTGTAATCCCAGCACTTCGGGAGGCAGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTTGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCGGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGC... | TCACGGGCTCAAGAGATCTGCGTGCCTTGGCCTCCTAAAGTGTTAGAATTACAGGCGTGAGCCACCACGCCTGGCTAAGTGCATTTTAAAATGCAGTAACTGGCCGGGTGTGGTGACTCACTGCCTGTAATCCCAGCACTTCGGGAGGCAGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTTGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCGGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGC... | benign | 279,791 |
Clinical significance of chromosome 17, position 58703234, gene RAD51C: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O'] | CCACCACGCCTGGCTAAGTGCATTTTAAAATGCAGTAACTGGCCGGGTGTGGTGACTCACTGCCTGTAATCCCAGCACTTCGGGAGGCAGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTTGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCGGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGGCACTGCACTCCAGCCTGGAGGACAGAGCAAGACTCCGTC... | CCACCACGCCTGGCTAAGTGCATTTTAAAATGCAGTAACTGGCCGGGTGTGGTGACTCACTGCCTGTAATCCCAGCACTTCGGGAGGCAGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTTGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCGGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGGCACTGCACTCCAGCCTGGAGGACAGAGCAAGACTCCGTC... | pathogenic | 279,809 |
Clinical classification of chromosome 17, position 58703234, gene RAD51C: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O'] | CCACCACGCCTGGCTAAGTGCATTTTAAAATGCAGTAACTGGCCGGGTGTGGTGACTCACTGCCTGTAATCCCAGCACTTCGGGAGGCAGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTTGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCGGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGGCACTGCACTCCAGCCTGGAGGACAGAGCAAGACTCCGTC... | CCACCACGCCTGGCTAAGTGCATTTTAAAATGCAGTAACTGGCCGGGTGTGGTGACTCACTGCCTGTAATCCCAGCACTTCGGGAGGCAGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTTGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCGGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGGCACTGCACTCCAGCCTGGAGGACAGAGCAAGACTCCGTC... | pathogenic | 279,810 |
Classify the chromosome 17 variant at position 58703243 affecting gene RAD51C as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | CTGGCTAAGTGCATTTTAAAATGCAGTAACTGGCCGGGTGTGGTGACTCACTGCCTGTAATCCCAGCACTTCGGGAGGCAGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTTGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCGGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGGCACTGCACTCCAGCCTGGAGGACAGAGCAAGACTCCGTCTCAAAAAAA... | CTGGCTAAGTGCATTTTAAAATGCAGTAACTGGCCGGGTGTGGTGACTCACTGCCTGTAATCCCAGCACTTCGGGAGGCAGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTTGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCGGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGGCACTGCACTCCAGCCTGGAGGACAGAGCAAGACTCCGTCTCAAAAAAA... | pathogenic | 279,812 |
Located at chromosome 17 position 58703244, the variant affecting gene RAD51C—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Hereditary_cancer-predisposing_syndrome'] | TGGCTAAGTGCATTTTAAAATGCAGTAACTGGCCGGGTGTGGTGACTCACTGCCTGTAATCCCAGCACTTCGGGAGGCAGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTTGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCGGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGGCACTGCACTCCAGCCTGGAGGACAGAGCAAGACTCCGTCTCAAAAAAAT... | TGGCTAAGTGCATTTTAAAATGCAGTAACTGGCCGGGTGTGGTGACTCACTGCCTGTAATCCCAGCACTTCGGGAGGCAGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTTGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCGGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGGCACTGCACTCCAGCCTGGAGGACAGAGCAAGACTCCGTCTCAAAAAAAT... | pathogenic | 279,813 |
The chromosome 17, position 58703274 genetic variant in gene RAD51C: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGCCGGGTGTGGTGACTCACTGCCTGTAATCCCAGCACTTCGGGAGGCAGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTTGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCGGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGGCACTGCACTCCAGCCTGGAGGACAGAGCAAGACTCCGTCTCAAAAAAATGAAAAAGAAAAAATGCAGTAACTGATTGGT... | GGCCGGGTGTGGTGACTCACTGCCTGTAATCCCAGCACTTCGGGAGGCAGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTTGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCGGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGGCACTGCACTCCAGCCTGGAGGACAGAGCAAGACTCCGTCTCAAAAAAATGAAAAAGAAAAAATGCAGTAACTGATTGGT... | pathogenic | 279,818 |
Is the genetic change at chromosome 17, position 58703325, within gene RAD51C benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O'] | GGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTTGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCGGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGGCACTGCACTCCAGCCTGGAGGACAGAGCAAGACTCCGTCTCAAAAAAATGAAAAAGAAAAAATGCAGTAACTGATTGGTTTCTCTCTGAAATATGTGCAAAATCAAACTTTTTTTTTTTTCTGAGACAGA... | GGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTTGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCGGCTGCTGGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGGCACTGCACTCCAGCCTGGAGGACAGAGCAAGACTCCGTCTCAAAAAAATGAAAAAGAAAAAATGCAGTAACTGATTGGTTTCTCTCTGAAATATGTGCAAAATCAAACTTTTTTTTTTTTCTGAGACAGA... | pathogenic | 279,827 |
Considering the genetic mutation at chromosome 17, position 58709837, impacting RAD51C (RAD51 paralog C): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AGTTCTGGAGACTAGAAGCTCAAGATAAGGTTCTGGCTGATTGGTCTCTGGTGAGAGCTCTCTCCCTGGCATGTAGATGGCCACCTTCTTGCTGTGTCCTCATGGGGAGGAAGGAGGAAGAGTGAGCTCTTTGGTGTCTTTTCTTCAAGGACACTAATCCTCTCAAATCAGGATGTCATTCTCATGACCTAATTTTACGTTAATTACTACCTTAGAGGCCCTCTCTCCAAATACAGTCACACTGGGAGATAGGGCTTCAATTTACGAATATTGGGGGGACACAGCAGTGGTCATGTGTGGAGTCATGAAAAATCGAATCA... | AGTTCTGGAGACTAGAAGCTCAAGATAAGGTTCTGGCTGATTGGTCTCTGGTGAGAGCTCTCTCCCTGGCATGTAGATGGCCACCTTCTTGCTGTGTCCTCATGGGGAGGAAGGAGGAAGAGTGAGCTCTTTGGTGTCTTTTCTTCAAGGACACTAATCCTCTCAAATCAGGATGTCATTCTCATGACCTAATTTTACGTTAATTACTACCTTAGAGGCCCTCTCTCCAAATACAGTCACACTGGGAGATAGGGCTTCAATTTACGAATATTGGGGGGACACAGCAGTGGTCATGTGTGGAGTCATGAAAAATCGAATCA... | benign | 279,833 |
Is the chromosome 17, position 58709883 variant in RAD51C (RAD51 paralog C) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCTGGTGAGAGCTCTCTCCCTGGCATGTAGATGGCCACCTTCTTGCTGTGTCCTCATGGGGAGGAAGGAGGAAGAGTGAGCTCTTTGGTGTCTTTTCTTCAAGGACACTAATCCTCTCAAATCAGGATGTCATTCTCATGACCTAATTTTACGTTAATTACTACCTTAGAGGCCCTCTCTCCAAATACAGTCACACTGGGAGATAGGGCTTCAATTTACGAATATTGGGGGGACACAGCAGTGGTCATGTGTGGAGTCATGAAAAATCGAATCAACCTGTGCACATATTCCCAGCTGACGTTGAACAAGGTCATGTTCTG... | TCTGGTGAGAGCTCTCTCCCTGGCATGTAGATGGCCACCTTCTTGCTGTGTCCTCATGGGGAGGAAGGAGGAAGAGTGAGCTCTTTGGTGTCTTTTCTTCAAGGACACTAATCCTCTCAAATCAGGATGTCATTCTCATGACCTAATTTTACGTTAATTACTACCTTAGAGGCCCTCTCTCCAAATACAGTCACACTGGGAGATAGGGCTTCAATTTACGAATATTGGGGGGACACAGCAGTGGTCATGTGTGGAGTCATGAAAAATCGAATCAACCTGTGCACATATTCCCAGCTGACGTTGAACAAGGTCATGTTCTG... | pathogenic | 279,847 |
A genetic variant on chromosome 17, position 58709926, 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', 'Hereditary_cancer-predisposing_syndrome'] | TGCTGTGTCCTCATGGGGAGGAAGGAGGAAGAGTGAGCTCTTTGGTGTCTTTTCTTCAAGGACACTAATCCTCTCAAATCAGGATGTCATTCTCATGACCTAATTTTACGTTAATTACTACCTTAGAGGCCCTCTCTCCAAATACAGTCACACTGGGAGATAGGGCTTCAATTTACGAATATTGGGGGGACACAGCAGTGGTCATGTGTGGAGTCATGAAAAATCGAATCAACCTGTGCACATATTCCCAGCTGACGTTGAACAAGGTCATGTTCTGCCTTTTTATTTCAGCTCTCTACTGTAAACAAGTGTCCTTTTCA... | TGCTGTGTCCTCATGGGGAGGAAGGAGGAAGAGTGAGCTCTTTGGTGTCTTTTCTTCAAGGACACTAATCCTCTCAAATCAGGATGTCATTCTCATGACCTAATTTTACGTTAATTACTACCTTAGAGGCCCTCTCTCCAAATACAGTCACACTGGGAGATAGGGCTTCAATTTACGAATATTGGGGGGACACAGCAGTGGTCATGTGTGGAGTCATGAAAAATCGAATCAACCTGTGCACATATTCCCAGCTGACGTTGAACAAGGTCATGTTCTGCCTTTTTATTTCAGCTCTCTACTGTAAACAAGTGTCCTTTTCA... | pathogenic | 279,854 |
Does the chromosome 17 mutation at position 58709935 within gene RAD51C (RAD51 paralog C) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O'] | CTCATGGGGAGGAAGGAGGAAGAGTGAGCTCTTTGGTGTCTTTTCTTCAAGGACACTAATCCTCTCAAATCAGGATGTCATTCTCATGACCTAATTTTACGTTAATTACTACCTTAGAGGCCCTCTCTCCAAATACAGTCACACTGGGAGATAGGGCTTCAATTTACGAATATTGGGGGGACACAGCAGTGGTCATGTGTGGAGTCATGAAAAATCGAATCAACCTGTGCACATATTCCCAGCTGACGTTGAACAAGGTCATGTTCTGCCTTTTTATTTCAGCTCTCTACTGTAAACAAGTGTCCTTTTCACAGTCTTTA... | CTCATGGGGAGGAAGGAGGAAGAGTGAGCTCTTTGGTGTCTTTTCTTCAAGGACACTAATCCTCTCAAATCAGGATGTCATTCTCATGACCTAATTTTACGTTAATTACTACCTTAGAGGCCCTCTCTCCAAATACAGTCACACTGGGAGATAGGGCTTCAATTTACGAATATTGGGGGGACACAGCAGTGGTCATGTGTGGAGTCATGAAAAATCGAATCAACCTGTGCACATATTCCCAGCTGACGTTGAACAAGGTCATGTTCTGCCTTTTTATTTCAGCTCTCTACTGTAAACAAGTGTCCTTTTCACAGTCTTTA... | pathogenic | 279,857 |
Determine if the mutation at chromosome 17, position 58709947 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'] | AAGGAGGAAGAGTGAGCTCTTTGGTGTCTTTTCTTCAAGGACACTAATCCTCTCAAATCAGGATGTCATTCTCATGACCTAATTTTACGTTAATTACTACCTTAGAGGCCCTCTCTCCAAATACAGTCACACTGGGAGATAGGGCTTCAATTTACGAATATTGGGGGGACACAGCAGTGGTCATGTGTGGAGTCATGAAAAATCGAATCAACCTGTGCACATATTCCCAGCTGACGTTGAACAAGGTCATGTTCTGCCTTTTTATTTCAGCTCTCTACTGTAAACAAGTGTCCTTTTCACAGTCTTTATAATGCCACTTT... | AAGGAGGAAGAGTGAGCTCTTTGGTGTCTTTTCTTCAAGGACACTAATCCTCTCAAATCAGGATGTCATTCTCATGACCTAATTTTACGTTAATTACTACCTTAGAGGCCCTCTCTCCAAATACAGTCACACTGGGAGATAGGGCTTCAATTTACGAATATTGGGGGGACACAGCAGTGGTCATGTGTGGAGTCATGAAAAATCGAATCAACCTGTGCACATATTCCCAGCTGACGTTGAACAAGGTCATGTTCTGCCTTTTTATTTCAGCTCTCTACTGTAAACAAGTGTCCTTTTCACAGTCTTTATAATGCCACTTT... | pathogenic | 279,861 |
Assess the variant on chromosome 17, position 58709971, impacting RAD51C (RAD51 paralog C): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Hereditary_cancer-predisposing_syndrome'] | TGTCTTTTCTTCAAGGACACTAATCCTCTCAAATCAGGATGTCATTCTCATGACCTAATTTTACGTTAATTACTACCTTAGAGGCCCTCTCTCCAAATACAGTCACACTGGGAGATAGGGCTTCAATTTACGAATATTGGGGGGACACAGCAGTGGTCATGTGTGGAGTCATGAAAAATCGAATCAACCTGTGCACATATTCCCAGCTGACGTTGAACAAGGTCATGTTCTGCCTTTTTATTTCAGCTCTCTACTGTAAACAAGTGTCCTTTTCACAGTCTTTATAATGCCACTTTTTTTTGCATTTTTGTGCTTTTTAT... | TGTCTTTTCTTCAAGGACACTAATCCTCTCAAATCAGGATGTCATTCTCATGACCTAATTTTACGTTAATTACTACCTTAGAGGCCCTCTCTCCAAATACAGTCACACTGGGAGATAGGGCTTCAATTTACGAATATTGGGGGGACACAGCAGTGGTCATGTGTGGAGTCATGAAAAATCGAATCAACCTGTGCACATATTCCCAGCTGACGTTGAACAAGGTCATGTTCTGCCTTTTTATTTCAGCTCTCTACTGTAAACAAGTGTCCTTTTCACAGTCTTTATAATGCCACTTTTTTTTGCATTTTTGTGCTTTTTAT... | pathogenic | 279,867 |
Regarding the variant at chromosome 17 and position 58709990, 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', 'Hereditary_cancer-predisposing_syndrome'] | CTAATCCTCTCAAATCAGGATGTCATTCTCATGACCTAATTTTACGTTAATTACTACCTTAGAGGCCCTCTCTCCAAATACAGTCACACTGGGAGATAGGGCTTCAATTTACGAATATTGGGGGGACACAGCAGTGGTCATGTGTGGAGTCATGAAAAATCGAATCAACCTGTGCACATATTCCCAGCTGACGTTGAACAAGGTCATGTTCTGCCTTTTTATTTCAGCTCTCTACTGTAAACAAGTGTCCTTTTCACAGTCTTTATAATGCCACTTTTTTTTGCATTTTTGTGCTTTTTATTAGTGTTCACCTGTTCTTC... | CTAATCCTCTCAAATCAGGATGTCATTCTCATGACCTAATTTTACGTTAATTACTACCTTAGAGGCCCTCTCTCCAAATACAGTCACACTGGGAGATAGGGCTTCAATTTACGAATATTGGGGGGACACAGCAGTGGTCATGTGTGGAGTCATGAAAAATCGAATCAACCTGTGCACATATTCCCAGCTGACGTTGAACAAGGTCATGTTCTGCCTTTTTATTTCAGCTCTCTACTGTAAACAAGTGTCCTTTTCACAGTCTTTATAATGCCACTTTTTTTTGCATTTTTGTGCTTTTTATTAGTGTTCACCTGTTCTTC... | pathogenic | 279,871 |
Is the variant located on chromosome 17 at position 58720756, gene RAD51C (RAD51 paralog C), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Hereditary_cancer-predisposing_syndrome'] | TAGGATTTTTTTTTTCCTAGTTCATCTACTTATATTGTACCTTCTTTATGAGTTTTAAGTCTCTTCTCATAATTTGTTGCCTCAGTTTCTTTTTTTCCTATAAAATTATAAACAGTAATACTATATTTGCTTCCTTCTTAAAAGTATAAACATTGAGGTATTTGTTAAGGATTTCATATTCCTTTCAATAAAAATATTCTAGGGAGGCAATAGTGATAAAGAACATGGACTCAGGCCAGGCACAGTGACACATGCTTATAATCCCGGCCCTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCA... | TAGGATTTTTTTTTTCCTAGTTCATCTACTTATATTGTACCTTCTTTATGAGTTTTAAGTCTCTTCTCATAATTTGTTGCCTCAGTTTCTTTTTTTCCTATAAAATTATAAACAGTAATACTATATTTGCTTCCTTCTTAAAAGTATAAACATTGAGGTATTTGTTAAGGATTTCATATTCCTTTCAATAAAAATATTCTAGGGAGGCAATAGTGATAAAGAACATGGACTCAGGCCAGGCACAGTGACACATGCTTATAATCCCGGCCCTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCA... | pathogenic | 279,886 |
Variant on chromosome 17, at position 58720756, affecting RAD51C (RAD51 paralog C): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | TAGGATTTTTTTTTTCCTAGTTCATCTACTTATATTGTACCTTCTTTATGAGTTTTAAGTCTCTTCTCATAATTTGTTGCCTCAGTTTCTTTTTTTCCTATAAAATTATAAACAGTAATACTATATTTGCTTCCTTCTTAAAAGTATAAACATTGAGGTATTTGTTAAGGATTTCATATTCCTTTCAATAAAAATATTCTAGGGAGGCAATAGTGATAAAGAACATGGACTCAGGCCAGGCACAGTGACACATGCTTATAATCCCGGCCCTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCA... | TAGGATTTTTTTTTTCCTAGTTCATCTACTTATATTGTACCTTCTTTATGAGTTTTAAGTCTCTTCTCATAATTTGTTGCCTCAGTTTCTTTTTTTCCTATAAAATTATAAACAGTAATACTATATTTGCTTCCTTCTTAAAAGTATAAACATTGAGGTATTTGTTAAGGATTTCATATTCCTTTCAATAAAAATATTCTAGGGAGGCAATAGTGATAAAGAACATGGACTCAGGCCAGGCACAGTGACACATGCTTATAATCCCGGCCCTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCA... | pathogenic | 279,887 |
Classify the chromosome 17 variant at position 58720765 affecting gene RAD51C (RAD51 paralog C) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTCCTAGTTCATCTACTTATATTGTACCTTCTTTATGAGTTTTAAGTCTCTTCTCATAATTTGTTGCCTCAGTTTCTTTTTTTCCTATAAAATTATAAACAGTAATACTATATTTGCTTCCTTCTTAAAAGTATAAACATTGAGGTATTTGTTAAGGATTTCATATTCCTTTCAATAAAAATATTCTAGGGAGGCAATAGTGATAAAGAACATGGACTCAGGCCAGGCACAGTGACACATGCTTATAATCCCGGCCCTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGGCCGGCCA... | TTTTTTCCTAGTTCATCTACTTATATTGTACCTTCTTTATGAGTTTTAAGTCTCTTCTCATAATTTGTTGCCTCAGTTTCTTTTTTTCCTATAAAATTATAAACAGTAATACTATATTTGCTTCCTTCTTAAAAGTATAAACATTGAGGTATTTGTTAAGGATTTCATATTCCTTTCAATAAAAATATTCTAGGGAGGCAATAGTGATAAAGAACATGGACTCAGGCCAGGCACAGTGACACATGCTTATAATCCCGGCCCTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGGCCGGCCA... | pathogenic | 279,889 |
A genetic variant on chromosome 17, position 58720767, 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'] | TTTTCCTAGTTCATCTACTTATATTGTACCTTCTTTATGAGTTTTAAGTCTCTTCTCATAATTTGTTGCCTCAGTTTCTTTTTTTCCTATAAAATTATAAACAGTAATACTATATTTGCTTCCTTCTTAAAAGTATAAACATTGAGGTATTTGTTAAGGATTTCATATTCCTTTCAATAAAAATATTCTAGGGAGGCAATAGTGATAAAGAACATGGACTCAGGCCAGGCACAGTGACACATGCTTATAATCCCGGCCCTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGGCCGGCCAAC... | TTTTCCTAGTTCATCTACTTATATTGTACCTTCTTTATGAGTTTTAAGTCTCTTCTCATAATTTGTTGCCTCAGTTTCTTTTTTTCCTATAAAATTATAAACAGTAATACTATATTTGCTTCCTTCTTAAAAGTATAAACATTGAGGTATTTGTTAAGGATTTCATATTCCTTTCAATAAAAATATTCTAGGGAGGCAATAGTGATAAAGAACATGGACTCAGGCCAGGCACAGTGACACATGCTTATAATCCCGGCCCTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGGCCGGCCAAC... | pathogenic | 279,891 |
Is the variant located on chromosome 17 at position 58720794, 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_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACCTTCTTTATGAGTTTTAAGTCTCTTCTCATAATTTGTTGCCTCAGTTTCTTTTTTTCCTATAAAATTATAAACAGTAATACTATATTTGCTTCCTTCTTAAAAGTATAAACATTGAGGTATTTGTTAAGGATTTCATATTCCTTTCAATAAAAATATTCTAGGGAGGCAATAGTGATAAAGAACATGGACTCAGGCCAGGCACAGTGACACATGCTTATAATCCCGGCCCTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGGCCGGCCAACATGGTAAAACCCCATCTTTACTAAAAA... | ACCTTCTTTATGAGTTTTAAGTCTCTTCTCATAATTTGTTGCCTCAGTTTCTTTTTTTCCTATAAAATTATAAACAGTAATACTATATTTGCTTCCTTCTTAAAAGTATAAACATTGAGGTATTTGTTAAGGATTTCATATTCCTTTCAATAAAAATATTCTAGGGAGGCAATAGTGATAAAGAACATGGACTCAGGCCAGGCACAGTGACACATGCTTATAATCCCGGCCCTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGGCCGGCCAACATGGTAAAACCCCATCTTTACTAAAAA... | pathogenic | 279,896 |
Variant in gene RAD51C (RAD51 paralog C), located at chromosome 17 position 58724017: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TGTCATTTTCTATCACCCACTTAAGCAAGAGCTTCCTAATGTTTGGATCCACTCAGGGGTAATCAAACTCAGCCTTTCTCAAACTCATGCCCTCAGCACACTATGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTT... | TGTCATTTTCTATCACCCACTTAAGCAAGAGCTTCCTAATGTTTGGATCCACTCAGGGGTAATCAAACTCAGCCTTTCTCAAACTCATGCCCTCAGCACACTATGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTT... | benign | 279,905 |
Is the chromosome 17, position 58724036 variant in RAD51C (RAD51 paralog C) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | CTTAAGCAAGAGCTTCCTAATGTTTGGATCCACTCAGGGGTAATCAAACTCAGCCTTTCTCAAACTCATGCCCTCAGCACACTATGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTTTACTAGCAGAACGCCCTTT... | CTTAAGCAAGAGCTTCCTAATGTTTGGATCCACTCAGGGGTAATCAAACTCAGCCTTTCTCAAACTCATGCCCTCAGCACACTATGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTTTACTAGCAGAACGCCCTTT... | pathogenic | 279,910 |
Considering the variant on chromosome 17, location 58724037, 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', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | TTAAGCAAGAGCTTCCTAATGTTTGGATCCACTCAGGGGTAATCAAACTCAGCCTTTCTCAAACTCATGCCCTCAGCACACTATGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTTTACTAGCAGAACGCCCTTTA... | TTAAGCAAGAGCTTCCTAATGTTTGGATCCACTCAGGGGTAATCAAACTCAGCCTTTCTCAAACTCATGCCCTCAGCACACTATGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTTTACTAGCAGAACGCCCTTTA... | pathogenic | 279,911 |
Mutation at chromosome 17, position 58724037, within RAD51C (RAD51 paralog C): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Breast_and/or_ovarian_cancer', 'Fanconi_anemia_complementation_group_O', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTAAGCAAGAGCTTCCTAATGTTTGGATCCACTCAGGGGTAATCAAACTCAGCCTTTCTCAAACTCATGCCCTCAGCACACTATGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTTTACTAGCAGAACGCCCTTTA... | TTAAGCAAGAGCTTCCTAATGTTTGGATCCACTCAGGGGTAATCAAACTCAGCCTTTCTCAAACTCATGCCCTCAGCACACTATGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTTTACTAGCAGAACGCCCTTTA... | pathogenic | 279,912 |
Considering the genetic mutation at chromosome 17, position 58724039, 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'] | AAGCAAGAGCTTCCTAATGTTTGGATCCACTCAGGGGTAATCAAACTCAGCCTTTCTCAAACTCATGCCCTCAGCACACTATGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTTTACTAGCAGAACGCCCTTTACC... | AAGCAAGAGCTTCCTAATGTTTGGATCCACTCAGGGGTAATCAAACTCAGCCTTTCTCAAACTCATGCCCTCAGCACACTATGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTTTACTAGCAGAACGCCCTTTACC... | pathogenic | 279,915 |
Regarding the variant at chromosome 17 and position 58724042, affecting gene RAD51C (RAD51 paralog C): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | CAAGAGCTTCCTAATGTTTGGATCCACTCAGGGGTAATCAAACTCAGCCTTTCTCAAACTCATGCCCTCAGCACACTATGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTTTACTAGCAGAACGCCCTTTACCTTG... | CAAGAGCTTCCTAATGTTTGGATCCACTCAGGGGTAATCAAACTCAGCCTTTCTCAAACTCATGCCCTCAGCACACTATGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTTTACTAGCAGAACGCCCTTTACCTTG... | pathogenic | 279,917 |
The mutation in gene RAD51C (RAD51 paralog C) at chromosome 17, position 58724048—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | CTTCCTAATGTTTGGATCCACTCAGGGGTAATCAAACTCAGCCTTTCTCAAACTCATGCCCTCAGCACACTATGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTTTACTAGCAGAACGCCCTTTACCTTGGATATT... | CTTCCTAATGTTTGGATCCACTCAGGGGTAATCAAACTCAGCCTTTCTCAAACTCATGCCCTCAGCACACTATGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTTTACTAGCAGAACGCCCTTTACCTTGGATATT... | pathogenic | 279,919 |
A genetic variant on chromosome 17, position 58724059, 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'] | TTGGATCCACTCAGGGGTAATCAAACTCAGCCTTTCTCAAACTCATGCCCTCAGCACACTATGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTTTACTAGCAGAACGCCCTTTACCTTGGATATTGCTAGGATATT... | TTGGATCCACTCAGGGGTAATCAAACTCAGCCTTTCTCAAACTCATGCCCTCAGCACACTATGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTTTACTAGCAGAACGCCCTTTACCTTGGATATTGCTAGGATATT... | pathogenic | 279,922 |
Classify the chromosome 17 variant at position 58724074 affecting gene RAD51C (RAD51 paralog C) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O'] | GGTAATCAAACTCAGCCTTTCTCAAACTCATGCCCTCAGCACACTATGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTTTACTAGCAGAACGCCCTTTACCTTGGATATTGCTAGGATATTGTTCAATAGAATGGT... | GGTAATCAAACTCAGCCTTTCTCAAACTCATGCCCTCAGCACACTATGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTTTACTAGCAGAACGCCCTTTACCTTGGATATTGCTAGGATATTGTTCAATAGAATGGT... | pathogenic | 279,929 |
Variant in RAD51C (RAD51 paralog C), chromosome 17, position 58724096—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_3', 'Fanconi_anemia_complementation_group_O', 'Hereditary_cancer-predisposing_syndrome'] | CAAACTCATGCCCTCAGCACACTATGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTTTACTAGCAGAACGCCCTTTACCTTGGATATTGCTAGGATATTGTTCAATAGAATGGTCAGTTATGATAGAAGTGTTCTA... | CAAACTCATGCCCTCAGCACACTATGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTTTACTAGCAGAACGCCCTTTACCTTGGATATTGCTAGGATATTGTTCAATAGAATGGTCAGTTATGATAGAAGTGTTCTA... | pathogenic | 279,937 |
Evaluate the clinical significance of the mutation at chromosome 17, position 58724099 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', 'Gastric_cancer'] | ACTCATGCCCTCAGCACACTATGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTTTACTAGCAGAACGCCCTTTACCTTGGATATTGCTAGGATATTGTTCAATAGAATGGTCAGTTATGATAGAAGTGTTCTATGT... | ACTCATGCCCTCAGCACACTATGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTTTACTAGCAGAACGCCCTTTACCTTGGATATTGCTAGGATATTGTTCAATAGAATGGTCAGTTATGATAGAAGTGTTCTATGT... | pathogenic | 279,938 |
The genetic variant at chromosome 17, position 58724120, affecting gene RAD51C (RAD51 paralog C): benign or pathogenic? Disease name(s) if pathogenic? | benign | TGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTTTACTAGCAGAACGCCCTTTACCTTGGATATTGCTAGGATATTGTTCAATAGAATGGTCAGTTATGATAGAAGTGTTCTATGTCTGTGCTCTTCAGTACAGTAG... | TGATAAATCAGAAAGCAAATTTATAAATTTAGTGAGAATTACAGTTGTCAAGCAGAATGAAGTTTATGTTTTCTAGTCAGTTTATTTTCTTCCCAGATACCAGGAAGTTGGGAAAGCAGGGGTTCAGAGTTGGTAAGCAGAGAAGCAAATAAATGGAAATGGATGCCCTCAGGAATATTATGCTTAAGTTGTGATAATTCTGATGCCCTCCTTGGTTTACTAGCAGAACGCCCTTTACCTTGGATATTGCTAGGATATTGTTCAATAGAATGGTCAGTTATGATAGAAGTGTTCTATGTCTGTGCTCTTCAGTACAGTAG... | benign | 279,943 |
Evaluate the clinical significance of the mutation at chromosome 17, position 58732547 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', 'Breast_and/or_ovarian_cancer', 'Fanconi_anemia_complementation_group_O', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_site-specific_ovarian_cancer_syndrome', 'Uterine_corpus... | ACATATTACTTAGCAATTATTTATGTTTAAAGTTGCAATTACAGAGTATAGAACATTTTGGATTCTGCTGTATTTTGGTCTGTGTTTTTCTTTTGAATTGTGTCTGAGAAGAGGGGCAATTTCAAAATTAAGAGAGTAACAGATCATAGCCAAAATGTCCTTTTTGAATTGTCTTTGAAAACAAATCATTCTATTTTGTGTAAGTAAATGACCCTTATAACTCTGAGAATCTTATTTTCCTCTAGGTTAGAATCTGTATTTTTTAGATCAGTTTCATTACATTGTGCTAAAACATGTATATAACATAAAATTTACCATTT... | ACATATTACTTAGCAATTATTTATGTTTAAAGTTGCAATTACAGAGTATAGAACATTTTGGATTCTGCTGTATTTTGGTCTGTGTTTTTCTTTTGAATTGTGTCTGAGAAGAGGGGCAATTTCAAAATTAAGAGAGTAACAGATCATAGCCAAAATGTCCTTTTTGAATTGTCTTTGAAAACAAATCATTCTATTTTGTGTAAGTAAATGACCCTTATAACTCTGAGAATCTTATTTTCCTCTAGGTTAGAATCTGTATTTTTTAGATCAGTTTCATTACATTGTGCTAAAACATGTATATAACATAAAATTTACCATTT... | pathogenic | 279,958 |
A mutation at chromosome position 58734102 on chromosome 17 in gene RAD51C (RAD51 paralog C): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TAACAGCTTTTAACTTCTTGATTGTAGTCTTCTATCAATTCTTTTAGATGTGCGTATACATACTTATAAATATGGGATAATACAGTATAACTATTATTTAGTATATTATTAATACTTTCCTATCTCATTGAATATTTTCTTCCACGTTTAGTTTTTAGCATAAGTAATATCTCATCATATGTAAAATAATTTATTTGAATCAGTCATTGGACTTTTAGGTTGCTTTAAAATTTCATATAAACTCTGTTATATACATACGGGTAATTTGAAGGGTGTATTTTTAATATTTCTCTCCTTTTTGTGTTCTTAGAGAAAAAATA... | TAACAGCTTTTAACTTCTTGATTGTAGTCTTCTATCAATTCTTTTAGATGTGCGTATACATACTTATAAATATGGGATAATACAGTATAACTATTATTTAGTATATTATTAATACTTTCCTATCTCATTGAATATTTTCTTCCACGTTTAGTTTTTAGCATAAGTAATATCTCATCATATGTAAAATAATTTATTTGAATCAGTCATTGGACTTTTAGGTTGCTTTAAAATTTCATATAAACTCTGTTATATACATACGGGTAATTTGAAGGGTGTATTTTTAATATTTCTCTCCTTTTTGTGTTCTTAGAGAAAAAATA... | benign | 279,962 |
Is the chromosome 17, position 58734102 variant in RAD51C (RAD51 paralog C) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TAACAGCTTTTAACTTCTTGATTGTAGTCTTCTATCAATTCTTTTAGATGTGCGTATACATACTTATAAATATGGGATAATACAGTATAACTATTATTTAGTATATTATTAATACTTTCCTATCTCATTGAATATTTTCTTCCACGTTTAGTTTTTAGCATAAGTAATATCTCATCATATGTAAAATAATTTATTTGAATCAGTCATTGGACTTTTAGGTTGCTTTAAAATTTCATATAAACTCTGTTATATACATACGGGTAATTTGAAGGGTGTATTTTTAATATTTCTCTCCTTTTTGTGTTCTTAGAGAAAAAATA... | TAACAGCTTTTAACTTCTTGATTGTAGTCTTCTATCAATTCTTTTAGATGTGCGTATACATACTTATAAATATGGGATAATACAGTATAACTATTATTTAGTATATTATTAATACTTTCCTATCTCATTGAATATTTTCTTCCACGTTTAGTTTTTAGCATAAGTAATATCTCATCATATGTAAAATAATTTATTTGAATCAGTCATTGGACTTTTAGGTTGCTTTAAAATTTCATATAAACTCTGTTATATACATACGGGTAATTTGAAGGGTGTATTTTTAATATTTCTCTCCTTTTTGTGTTCTTAGAGAAAAAATA... | benign | 279,964 |
Variant in gene TRIM37 (tripartite motif containing 37), located at chromosome 17 position 59017298: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Mulibrey_nanism_syndrome'] | GCCAACATGGCAAAACCTCGTCTCTACTAAAAATACAAAAATTAGCAGGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTAAACCGGGGAGGCAGAGGTTGCAGAGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGGCTCTGTTAAAAAAAATAAAAAAAATTAAAAAAGTTAAAATTTAGTGCAATAAATGTATTTTCTGTCCACTAAAAAATTAACAAGGTAGAAATTAATTTGTTCATCATGATGCATACTTAAAGTTCCAAACAAAGCTATT... | GCCAACATGGCAAAACCTCGTCTCTACTAAAAATACAAAAATTAGCAGGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTAAACCGGGGAGGCAGAGGTTGCAGAGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGGCTCTGTTAAAAAAAATAAAAAAAATTAAAAAAGTTAAAATTTAGTGCAATAAATGTATTTTCTGTCCACTAAAAAATTAACAAGGTAGAAATTAATTTGTTCATCATGATGCATACTTAAAGTTCCAAACAAAGCTATT... | pathogenic | 279,993 |
Classify the chromosome 17 variant at position 59017303 affecting gene TRIM37 (tripartite motif containing 37) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Mulibrey_nanism_syndrome'] | CATGGCAAAACCTCGTCTCTACTAAAAATACAAAAATTAGCAGGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTAAACCGGGGAGGCAGAGGTTGCAGAGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGGCTCTGTTAAAAAAAATAAAAAAAATTAAAAAAGTTAAAATTTAGTGCAATAAATGTATTTTCTGTCCACTAAAAAATTAACAAGGTAGAAATTAATTTGTTCATCATGATGCATACTTAAAGTTCCAAACAAAGCTATTAGCTA... | CATGGCAAAACCTCGTCTCTACTAAAAATACAAAAATTAGCAGGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTAAACCGGGGAGGCAGAGGTTGCAGAGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGGCTCTGTTAAAAAAAATAAAAAAAATTAAAAAAGTTAAAATTTAGTGCAATAAATGTATTTTCTGTCCACTAAAAAATTAACAAGGTAGAAATTAATTTGTTCATCATGATGCATACTTAAAGTTCCAAACAAAGCTATTAGCTA... | pathogenic | 279,994 |
Variant at chromosome 17, position 59031948, gene TRIM37 (tripartite motif containing 37): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Mulibrey_nanism_syndrome'] | TATTTTCATTTGGCTTCCATGAGTATTTTTTCTCCTTTCTAAAAGCTCTTTATCTGGCTCATCTTCCTGACACTCAGTAAAAACAGATATTCATCAGGATTATGTTCCTGGCTCTCTTCTTTTAAAATATTCTTAAAACTCCTTTGCAATCTCACACCCTTGGTTTTAATTATCCAGTATCACCTCCAGAAAAATAACTGTCTGTATTCCAGTTCATTTTTTTTTTTCATGGAGTTTCACTCGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCGACTCCCAGGTTTAAGCCATTCTCCTGC... | TATTTTCATTTGGCTTCCATGAGTATTTTTTCTCCTTTCTAAAAGCTCTTTATCTGGCTCATCTTCCTGACACTCAGTAAAAACAGATATTCATCAGGATTATGTTCCTGGCTCTCTTCTTTTAAAATATTCTTAAAACTCCTTTGCAATCTCACACCCTTGGTTTTAATTATCCAGTATCACCTCCAGAAAAATAACTGTCTGTATTCCAGTTCATTTTTTTTTTTCATGGAGTTTCACTCGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCGACTCCCAGGTTTAAGCCATTCTCCTGC... | pathogenic | 280,003 |
Regarding the variant at chromosome 17 and position 59051299, affecting gene TRIM37 (tripartite motif containing 37): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'Mulibrey_nanism_syndrome'] | GGACCACCTTCGAGAAGCATGTCAGAGCATGCAGACTTCTTAGCTCGTGTCTCCAGAGCATCATCATTTTGGGGGCTAAGATGGTTATCTGGTGGTGACAAATCTCTTGACTTCTGAGTTCGAGACAGCTCAATAGTAAGTCTCTTTTAAAACAAGAAAAGCACAAATATTAGCCACAGCTCACTGGCACAGTAAAAGATGTCTCAAGTGAAAAAAAAATGCATCCAGATGTTTCTAAAACCATTGCTTTATTTATTTTTTGAGAATGGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGTGCCATCATAGCTCACTG... | GGACCACCTTCGAGAAGCATGTCAGAGCATGCAGACTTCTTAGCTCGTGTCTCCAGAGCATCATCATTTTGGGGGCTAAGATGGTTATCTGGTGGTGACAAATCTCTTGACTTCTGAGTTCGAGACAGCTCAATAGTAAGTCTCTTTTAAAACAAGAAAAGCACAAATATTAGCCACAGCTCACTGGCACAGTAAAAGATGTCTCAAGTGAAAAAAAAATGCATCCAGATGTTTCTAAAACCATTGCTTTATTTATTTTTTGAGAATGGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGTGCCATCATAGCTCACTG... | pathogenic | 280,013 |
Is chromosome 17, position 59062571, gene TRIM37 (tripartite motif containing 37) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Mulibrey_nanism_syndrome'] | TGTAATATCAAAGAAGATCCACAATTATCTAAAACCACTTTAAAAAATATTCCTCCTTGTCAAAAAGTACATTTGTGGTTCTCAGGGACTGAGGGAAACGGGGAATGGGAAGTGACTGCTAAGGAGTACAGGGATTCCTTGTGGAGTAAATAGAATGTTATAAAATTAGATGTTGGTGATGGTTGTAGAACTCTGCAGACAGATTTCATACATGTATTTCAATCAAAATGATATTTTAAAAAAATTGAATATAAAAGCAGACATGAGAATCCAGTAGTCTTCTTCTAAGCCAGATAGTAAAGAGATTTCTAAAAACGCAA... | TGTAATATCAAAGAAGATCCACAATTATCTAAAACCACTTTAAAAAATATTCCTCCTTGTCAAAAAGTACATTTGTGGTTCTCAGGGACTGAGGGAAACGGGGAATGGGAAGTGACTGCTAAGGAGTACAGGGATTCCTTGTGGAGTAAATAGAATGTTATAAAATTAGATGTTGGTGATGGTTGTAGAACTCTGCAGACAGATTTCATACATGTATTTCAATCAAAATGATATTTTAAAAAAATTGAATATAAAAGCAGACATGAGAATCCAGTAGTCTTCTTCTAAGCCAGATAGTAAAGAGATTTCTAAAAACGCAA... | pathogenic | 280,016 |
Gene mutation in TRIM37 (tripartite motif containing 37) at chromosome 17, position 59079759—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Mulibrey_nanism_syndrome'] | GAGATAGAAGAATCTCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATTAGTGGCAGAGGTCAGGTGTGGTGGCTCACGCCTGTTATCCCAGCACTTCGGGAGGCGGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCAAGACTAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGGGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGC... | GAGATAGAAGAATCTCTTGAACCTGGGAAGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAATTAGTGGCAGAGGTCAGGTGTGGTGGCTCACGCCTGTTATCCCAGCACTTCGGGAGGCGGAGGTGGGTGGATCACCTGAGGTCAGGAGCTCAAGACTAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGGGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGC... | pathogenic | 280,024 |
Is the chromosome 17, position 59081141 variant in TRIM37 (tripartite motif containing 37) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Mulibrey_nanism_syndrome'] | ATATATATTTCACTTTGGACTATGATAAAAAATGCAAAGCTGGTTTTTAGTCAGCAAAACACTGGAAGGACTAAGATCACCAAAACAAATCAAACAAAACAAACCATAGCATTGGATTAAATTCTTACTTAAAATTTAAGTTCAATACCAGGCTCCACAATCAAAGAAGAATGAAGGAATCTTCGAAAAGCAAAAAGGTCAGCAATAAATATAATTAAGCATATGTAAAATGAACCCTACTAGAAATCAAAAGCTGAGACTTTAAATCTCTAAGAAAATGCTGGCAGGGGATGACGCCGATGTTTACAAATGTCAGTTTC... | ATATATATTTCACTTTGGACTATGATAAAAAATGCAAAGCTGGTTTTTAGTCAGCAAAACACTGGAAGGACTAAGATCACCAAAACAAATCAAACAAAACAAACCATAGCATTGGATTAAATTCTTACTTAAAATTTAAGTTCAATACCAGGCTCCACAATCAAAGAAGAATGAAGGAATCTTCGAAAAGCAAAAAGGTCAGCAATAAATATAATTAAGCATATGTAAAATGAACCCTACTAGAAATCAAAAGCTGAGACTTTAAATCTCTAAGAAAATGCTGGCAGGGGATGACGCCGATGTTTACAAATGTCAGTTTC... | pathogenic | 280,028 |
Evaluate the clinical significance of the mutation at chromosome 17, position 59091325 in gene TRIM37 (tripartite motif containing 37): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Mulibrey_nanism_syndrome'] | AAATCCACAGCTGTGCTGTCCAAAACGATAGCCACTAGCCACATGTGACTCTTTTAAGTTAAAATTAAATAAAAATAAAATTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCAGTTTGGGAGGCCACAGCGGGTGGATCACAAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACGCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGATGAGGCAGGAGAATCACTTGAACCAGGGAGTCAGAGGTTGCAGTGAGCCAAGATTG... | AAATCCACAGCTGTGCTGTCCAAAACGATAGCCACTAGCCACATGTGACTCTTTTAAGTTAAAATTAAATAAAAATAAAATTTTGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCAGTTTGGGAGGCCACAGCGGGTGGATCACAAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACGCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGATGAGGCAGGAGAATCACTTGAACCAGGGAGTCAGAGGTTGCAGTGAGCCAAGATTG... | pathogenic | 280,034 |
Mutation found at chromosome 17 position 59104334, gene TRIM37 (tripartite motif containing 37): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Mulibrey_nanism_syndrome'] | AAGATGTAACAATGAAAAAATACAGAATCAATGAGGCATAAGGTAACAACCAGAGACCATAAGCACATGGGACCTTCATCAAAAGAAATGCGCCCAGATCCAGATTCTACCACTTAATTAACTATAACGGAGTCCAATTACTTAATTTATCTAGCATCAGTTTCACTGTTTATTAAAACATGGGTAAGTGTTAATGTGTATTAGTTGCTATTTTAACAATAAAATAACACCTTACAAACAAGTAGATATAGTATTTCATAATTTCTGAATTACTCCTTAGGTTATCTCATTTAATGCCATAACCACCCTGTAAAGCAAAT... | AAGATGTAACAATGAAAAAATACAGAATCAATGAGGCATAAGGTAACAACCAGAGACCATAAGCACATGGGACCTTCATCAAAAGAAATGCGCCCAGATCCAGATTCTACCACTTAATTAACTATAACGGAGTCCAATTACTTAATTTATCTAGCATCAGTTTCACTGTTTATTAAAACATGGGTAAGTGTTAATGTGTATTAGTTGCTATTTTAACAATAAAATAACACCTTACAAACAAGTAGATATAGTATTTCATAATTTCTGAATTACTCCTTAGGTTATCTCATTTAATGCCATAACCACCCTGTAAAGCAAAT... | pathogenic | 280,035 |
Clinical classification of chromosome 17, position 59106909, gene TRIM37 (tripartite motif containing 37): benign or pathogenic? Disease(s) if pathogenic? | benign | GCAGGTGGATCACTCGAGGTCGGGAGTTCGAGACCAACCTGGCCAAAATGGTTAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCACCTGTAATCCCAGCTACACAGGAGGCTAAGGCAGAAGAATTGCTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCCAAGAGGGTGCCACTGCACTCTAGCCTGGGTGACAGAGTGAGATTCTGTCTCAAAAAAAAAAAAAAAGAAAAAAGGAAAAAAGGCAGACTATATGACTGAATACACAACATGAACTTTTAACTTTTTCTGCAATTTCCCCA... | GCAGGTGGATCACTCGAGGTCGGGAGTTCGAGACCAACCTGGCCAAAATGGTTAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGTGCACCTGTAATCCCAGCTACACAGGAGGCTAAGGCAGAAGAATTGCTTGAACCTAGGAGGCGGAGGTTGCAGTGAGCCAAGAGGGTGCCACTGCACTCTAGCCTGGGTGACAGAGTGAGATTCTGTCTCAAAAAAAAAAAAAAAGAAAAAAGGAAAAAAGGCAGACTATATGACTGAATACACAACATGAACTTTTAACTTTTTCTGCAATTTCCCCA... | benign | 280,038 |
A mutation at chromosome position 59685667 on chromosome 17 in gene CLTC (clathrin heavy chain): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic | TTGTAGGTTGCCAATGTGGAACTATACTACAGAGCAATACAGTTCTACTTAGAATTCAAGCCTCTGTTGTTAAATGATTTGCTGATGGTGCTGTCTCCACGGTTGGATCACACTCGTGCAGTCAATTATTTCAGCAAGGTAAAGTAATAATTTTAAACCAAAGCTTCATAGCAAGGAATTAGGACATACTTCGATAACTTTTGTCCCTGGGACTTCAATAATGTGCTATATTTGTAACAAACTCTTTATTTTAAAGGTTAAACAGCTACCACTGGTGAAACCGTATTTGCGTTCAGTTCAGAACCATAACAACAAATCTG... | TTGTAGGTTGCCAATGTGGAACTATACTACAGAGCAATACAGTTCTACTTAGAATTCAAGCCTCTGTTGTTAAATGATTTGCTGATGGTGCTGTCTCCACGGTTGGATCACACTCGTGCAGTCAATTATTTCAGCAAGGTAAAGTAATAATTTTAAACCAAAGCTTCATAGCAAGGAATTAGGACATACTTCGATAACTTTTGTCCCTGGGACTTCAATAATGTGCTATATTTGTAACAAACTCTTTATTTTAAAGGTTAAACAGCTACCACTGGTGAAACCGTATTTGCGTTCAGTTCAGAACCATAACAACAAATCTG... | pathogenic | 280,073 |
Variant in gene CLTC, located at chromosome 17 position 59697708: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Neurologic,_endocrine,_and_pancreatic_disease,_multisystem,_infantile-onset_1'] | TGTCTCAAAAAACAAAAAAACCTATTTAGTTTCATCCAGGACATTAAGTGAAAGTGTTTAATGTGAGTGCAGGTCAGTGAAGAATACAATGGTGCCCCTGCTTTGATTTGTGGGAGGTGCCATCAGTTTTCCCCACCACTGCTTTTGCACCCTCAGTGCAAATATCAACACAGAGAAAAAAAAAATAATAATAGTATTATGAAAACATTGACTCTGTGGAGACCCTGTGGGTTCTGCAGAGTATACTTTGAAAACTATAAGATTATGAGTTCTATAAAATACCAAGTACAGATGAACTAGAAAACAAGCATATATCCACA... | TGTCTCAAAAAACAAAAAAACCTATTTAGTTTCATCCAGGACATTAAGTGAAAGTGTTTAATGTGAGTGCAGGTCAGTGAAGAATACAATGGTGCCCCTGCTTTGATTTGTGGGAGGTGCCATCAGTTTTCCCCACCACTGCTTTTGCACCCTCAGTGCAAATATCAACACAGAGAAAAAAAAAATAATAATAGTATTATGAAAACATTGACTCTGTGGAGACCCTGTGGGTTCTGCAGAGTATACTTTGAAAACTATAAGATTATGAGTTCTATAAAATACCAAGTACAGATGAACTAGAAAACAAGCATATATCCACA... | pathogenic | 280,080 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 60656794, gene PPM1D (protein phosphatase, Mg2+/Mn2+ dependent 1D): what disease(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_developmental_disorder_with_gastrointestinal_difficulties_and_high_pain_threshold'] | TAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAAGTTGCAGTGAGCCGAGGTCTTGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAGAAAAAAATACATGTAGGCTTATTTCCTGGAGTACATCATTTTCACTTTTGTTCTGTGAAACCTAGCAGATTTTAAATTCATATATGACACTGGAAGTTTTATTCCAAGCCACATTTATTTGCATAAAATGAGATCCTTTTGGTTTTGTTTTCTTTACTCGTTCA... | TAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAAGTTGCAGTGAGCCGAGGTCTTGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAGAAAAAAATACATGTAGGCTTATTTCCTGGAGTACATCATTTTCACTTTTGTTCTGTGAAACCTAGCAGATTTTAAATTCATATATGACACTGGAAGTTTTATTCCAAGCCACATTTATTTGCATAAAATGAGATCCTTTTGGTTTTGTTTTCTTTACTCGTTCA... | pathogenic | 280,120 |
Clinical significance of chromosome 17, position 60656815, gene PPM1D (protein phosphatase, Mg2+/Mn2+ dependent 1D): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Intellectual_developmental_disorder_with_gastrointestinal_difficulties_and_high_pain_threshold'] | CTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAAGTTGCAGTGAGCCGAGGTCTTGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAGAAAAAAATACATGTAGGCTTATTTCCTGGAGTACATCATTTTCACTTTTGTTCTGTGAAACCTAGCAGATTTTAAATTCATATATGACACTGGAAGTTTTATTCCAAGCCACATTTATTTGCATAAAATGAGATCCTTTTGGTTTTGTTTTCTTTACTCGTTCAATTGGTATATATTTGTTCTTT... | CTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAAGTTGCAGTGAGCCGAGGTCTTGCCATTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAGAAAGAAAAGAAAAGAAAGAAAAAAATACATGTAGGCTTATTTCCTGGAGTACATCATTTTCACTTTTGTTCTGTGAAACCTAGCAGATTTTAAATTCATATATGACACTGGAAGTTTTATTCCAAGCCACATTTATTTGCATAAAATGAGATCCTTTTGGTTTTGTTTTCTTTACTCGTTCAATTGGTATATATTTGTTCTTT... | pathogenic | 280,122 |
Classify the chromosome 17 variant at position 60663262 affecting gene PPM1D (protein phosphatase, Mg2+/Mn2+ dependent 1D) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Intellectual_developmental_disorder_with_gastrointestinal_difficulties_and_high_pain_threshold'] | CATCTCAAAAAAAAAAAAAAAAAAAAAGGAAAGGTGTTTATTTATAGGAGATTTTATTTCGGAGAAAGATCAGATAAATACGTCTTCATTTGCTGCTCTGCTTGGGCTTTTCAGAATCTATTAATATTTTGATACATTTGATTGAGAGTCCACTTGAGGAAAATTTTACATGTTTGGGGGAGAGAGTATTTATGCTTTAACTCTGGACCTTGATAAAGTATTAAGACAATGATTTTATGAAATGTTATTACTTTGGAAGAGCTGGGTTTGATAGTAAGAATGTTCTTATCTGGAGGTGAGCGGCTATTCTGAGTATATGT... | CATCTCAAAAAAAAAAAAAAAAAAAAAGGAAAGGTGTTTATTTATAGGAGATTTTATTTCGGAGAAAGATCAGATAAATACGTCTTCATTTGCTGCTCTGCTTGGGCTTTTCAGAATCTATTAATATTTTGATACATTTGATTGAGAGTCCACTTGAGGAAAATTTTACATGTTTGGGGGAGAGAGTATTTATGCTTTAACTCTGGACCTTGATAAAGTATTAAGACAATGATTTTATGAAATGTTATTACTTTGGAAGAGCTGGGTTTGATAGTAAGAATGTTCTTATCTGGAGGTGAGCGGCTATTCTGAGTATATGT... | pathogenic | 280,134 |
Determine if the mutation at chromosome 17, position 60663336 in gene PPM1D (protein phosphatase, Mg2+/Mn2+ dependent 1D) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Intellectual_developmental_disorder_with_gastrointestinal_difficulties_and_high_pain_threshold'] | TAAATACGTCTTCATTTGCTGCTCTGCTTGGGCTTTTCAGAATCTATTAATATTTTGATACATTTGATTGAGAGTCCACTTGAGGAAAATTTTACATGTTTGGGGGAGAGAGTATTTATGCTTTAACTCTGGACCTTGATAAAGTATTAAGACAATGATTTTATGAAATGTTATTACTTTGGAAGAGCTGGGTTTGATAGTAAGAATGTTCTTATCTGGAGGTGAGCGGCTATTCTGAGTATATGTAGATTTAGAGCACTACACTCAAAGTAGTGGTGCATATCTAGATTGACATGAAGCGTTGTGAAAACAGCATTTTT... | TAAATACGTCTTCATTTGCTGCTCTGCTTGGGCTTTTCAGAATCTATTAATATTTTGATACATTTGATTGAGAGTCCACTTGAGGAAAATTTTACATGTTTGGGGGAGAGAGTATTTATGCTTTAACTCTGGACCTTGATAAAGTATTAAGACAATGATTTTATGAAATGTTATTACTTTGGAAGAGCTGGGTTTGATAGTAAGAATGTTCTTATCTGGAGGTGAGCGGCTATTCTGAGTATATGTAGATTTAGAGCACTACACTCAAAGTAGTGGTGCATATCTAGATTGACATGAAGCGTTGTGAAAACAGCATTTTT... | pathogenic | 280,135 |
Does the chromosome 17 mutation at position 61457556 within gene TBX4 (T-box transcription factor 4) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Pulmonary_hypertension,_primary,_1'] | CAGGACCTGCTTCGGGCAGGGAGCAGGCACCTGAGTAGGCGAGGGAATCAGCCAAGACAGCCGAAGAAATGTAGCTGTGCCAGGCAGGGCTAAGCGGTTCCTGTGAATGGGCCCAGCCTGCTGGCCTGGTCCTTCACTGGGAAGGGTGTGGGTCTTTAGGCCCAAAGCAGAGCCCTGTGGCGCTAAAGTGTGCCTGAGTGAGCCTGTAGGTTCGAACTCGAGCACCAGGTAGGGGAGGCCTGGGCTGAGGGCAGAGCCTGGATCAGTCACCCAGGAGAGTGTGGCTGCTCAGGCTGGTGGGATGCTGTGTGAGGGGCTGT... | CAGGACCTGCTTCGGGCAGGGAGCAGGCACCTGAGTAGGCGAGGGAATCAGCCAAGACAGCCGAAGAAATGTAGCTGTGCCAGGCAGGGCTAAGCGGTTCCTGTGAATGGGCCCAGCCTGCTGGCCTGGTCCTTCACTGGGAAGGGTGTGGGTCTTTAGGCCCAAAGCAGAGCCCTGTGGCGCTAAAGTGTGCCTGAGTGAGCCTGTAGGTTCGAACTCGAGCACCAGGTAGGGGAGGCCTGGGCTGAGGGCAGAGCCTGGATCAGTCACCCAGGAGAGTGTGGCTGCTCAGGCTGGTGGGATGCTGTGTGAGGGGCTGT... | pathogenic | 280,156 |
Gene TBX4 (T-box transcription factor 4) variant at chromosome 17, position 61482983—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Coxopodopatellar_syndrome', 'Primary_pulmonary_hypoplasia', 'Pulmonary_arterial_hypertension', 'Pulmonary_hypertension,_primary,_1'] | TCTTGATTCCTCCATGGATAGAATTGCAATGATTCGTGTTACTCCACCAGAAGACCTCATGGGGCTGCTGAAATTCCCTTCGGAATGAGCCTGGGGACTTTTGCTTGCCTTCCGGAATGTTCCCTCAGCCCTGGTCCTAGGGACTAGCCCAGCAGAGCTCCGAGATCCCCTGTACAAGTCTCATTAGAACTCAATGACCTAGAGCACGGGTTGGCAAACTGTGGCCTTCGGACCTAACCCAGCCTGCTACCTGTACAAAATAGTTTTTACATTTCAAAACAATTGAAAAAAATCAAAAGAATATTTCATGAGATGTGAGC... | TCTTGATTCCTCCATGGATAGAATTGCAATGATTCGTGTTACTCCACCAGAAGACCTCATGGGGCTGCTGAAATTCCCTTCGGAATGAGCCTGGGGACTTTTGCTTGCCTTCCGGAATGTTCCCTCAGCCCTGGTCCTAGGGACTAGCCCAGCAGAGCTCCGAGATCCCCTGTACAAGTCTCATTAGAACTCAATGACCTAGAGCACGGGTTGGCAAACTGTGGCCTTCGGACCTAACCCAGCCTGCTACCTGTACAAAATAGTTTTTACATTTCAAAACAATTGAAAAAAATCAAAAGAATATTTCATGAGATGTGAGC... | pathogenic | 280,177 |
Is the genetic mutation found on chromosome 17 at position 61482983, within the gene TBX4 (T-box transcription factor 4), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Pulmonary_arterial_hypertension_associated_with_congenital_heart_disease', 'Pulmonary_hypertension,_primary,_1'] | TCTTGATTCCTCCATGGATAGAATTGCAATGATTCGTGTTACTCCACCAGAAGACCTCATGGGGCTGCTGAAATTCCCTTCGGAATGAGCCTGGGGACTTTTGCTTGCCTTCCGGAATGTTCCCTCAGCCCTGGTCCTAGGGACTAGCCCAGCAGAGCTCCGAGATCCCCTGTACAAGTCTCATTAGAACTCAATGACCTAGAGCACGGGTTGGCAAACTGTGGCCTTCGGACCTAACCCAGCCTGCTACCTGTACAAAATAGTTTTTACATTTCAAAACAATTGAAAAAAATCAAAAGAATATTTCATGAGATGTGAGC... | TCTTGATTCCTCCATGGATAGAATTGCAATGATTCGTGTTACTCCACCAGAAGACCTCATGGGGCTGCTGAAATTCCCTTCGGAATGAGCCTGGGGACTTTTGCTTGCCTTCCGGAATGTTCCCTCAGCCCTGGTCCTAGGGACTAGCCCAGCAGAGCTCCGAGATCCCCTGTACAAGTCTCATTAGAACTCAATGACCTAGAGCACGGGTTGGCAAACTGTGGCCTTCGGACCTAACCCAGCCTGCTACCTGTACAAAATAGTTTTTACATTTCAAAACAATTGAAAAAAATCAAAAGAATATTTCATGAGATGTGAGC... | pathogenic | 280,178 |
Determine if the mutation at chromosome 17, position 61483613 in gene TBX4 (T-box transcription factor 4) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | AGGGAGAGGAGCAGGTCTCCCTGGGCAGGGCAGATGCCACCAGCAGGGGCAGAGGAGAGAGGTGAGCAGAGGCCTTCACACCCATTTAGCCCCTCTGCTTCCAGCCCCGTGGGTGCACACACAGAGCTCCCCGAATGAATCCCTGGAGAAAACAGGAGGAGGGAGGCCAAGATGAGCCATGGATGTGTGGGGTTTTTGTTGTTGTTGTTGTCCTTGTTTTGAGACGGAGTCTCTCTCTGTCTCCCAGGCTGGAGTGCAATGGTGCAATCTGGGCTCACTGCAACCTCTGCCTCCCGAATTCAAGTGATTCTCCTGCCTCA... | AGGGAGAGGAGCAGGTCTCCCTGGGCAGGGCAGATGCCACCAGCAGGGGCAGAGGAGAGAGGTGAGCAGAGGCCTTCACACCCATTTAGCCCCTCTGCTTCCAGCCCCGTGGGTGCACACACAGAGCTCCCCGAATGAATCCCTGGAGAAAACAGGAGGAGGGAGGCCAAGATGAGCCATGGATGTGTGGGGTTTTTGTTGTTGTTGTTGTCCTTGTTTTGAGACGGAGTCTCTCTCTGTCTCCCAGGCTGGAGTGCAATGGTGCAATCTGGGCTCACTGCAACCTCTGCCTCCCGAATTCAAGTGATTCTCCTGCCTCA... | benign | 280,189 |
The chromosome 17, position 61683674 genetic variant in gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAATCGAGTATTTGGTATTTACTGCTCAATGATCAACTAGAAAAAATATATAATACTAGATGGGATCTAATATATTCTAAATTCTTTAACTGGTAACTTGTCAATTTAAATGTCTTTGAACTACGCTTAGAGTTGTAACATCAAATGCTATAGAAACAGGCTGTAAAAATCTAAATGTCTCAAAATGGAAGCAAAGACATACCTATATAATGATTCATTTATCCAAATGAAATGTAAAGTAAATCCTTACTGGAAATTTTGACTTGAAAATAATAGACCATACAGAATTCTTGGATAGCTCATAAAATTTCAATTCAAAT... | TAATCGAGTATTTGGTATTTACTGCTCAATGATCAACTAGAAAAAATATATAATACTAGATGGGATCTAATATATTCTAAATTCTTTAACTGGTAACTTGTCAATTTAAATGTCTTTGAACTACGCTTAGAGTTGTAACATCAAATGCTATAGAAACAGGCTGTAAAAATCTAAATGTCTCAAAATGGAAGCAAAGACATACCTATATAATGATTCATTTATCCAAATGAAATGTAAAGTAAATCCTTACTGGAAATTTTGACTTGAAAATAATAGACCATACAGAATTCTTGGATAGCTCATAAAATTTCAATTCAAAT... | pathogenic | 280,255 |
Clinical classification of chromosome 17, position 61683686, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TGGTATTTACTGCTCAATGATCAACTAGAAAAAATATATAATACTAGATGGGATCTAATATATTCTAAATTCTTTAACTGGTAACTTGTCAATTTAAATGTCTTTGAACTACGCTTAGAGTTGTAACATCAAATGCTATAGAAACAGGCTGTAAAAATCTAAATGTCTCAAAATGGAAGCAAAGACATACCTATATAATGATTCATTTATCCAAATGAAATGTAAAGTAAATCCTTACTGGAAATTTTGACTTGAAAATAATAGACCATACAGAATTCTTGGATAGCTCATAAAATTTCAATTCAAATTACTCACAAAAA... | TGGTATTTACTGCTCAATGATCAACTAGAAAAAATATATAATACTAGATGGGATCTAATATATTCTAAATTCTTTAACTGGTAACTTGTCAATTTAAATGTCTTTGAACTACGCTTAGAGTTGTAACATCAAATGCTATAGAAACAGGCTGTAAAAATCTAAATGTCTCAAAATGGAAGCAAAGACATACCTATATAATGATTCATTTATCCAAATGAAATGTAAAGTAAATCCTTACTGGAAATTTTGACTTGAAAATAATAGACCATACAGAATTCTTGGATAGCTCATAAAATTTCAATTCAAATTACTCACAAAAA... | pathogenic | 280,257 |
A genetic variant at chromosome 17, position 61683692, affecting gene BRIP1 (BRCA1 interacting DNA helicase 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | TTACTGCTCAATGATCAACTAGAAAAAATATATAATACTAGATGGGATCTAATATATTCTAAATTCTTTAACTGGTAACTTGTCAATTTAAATGTCTTTGAACTACGCTTAGAGTTGTAACATCAAATGCTATAGAAACAGGCTGTAAAAATCTAAATGTCTCAAAATGGAAGCAAAGACATACCTATATAATGATTCATTTATCCAAATGAAATGTAAAGTAAATCCTTACTGGAAATTTTGACTTGAAAATAATAGACCATACAGAATTCTTGGATAGCTCATAAAATTTCAATTCAAATTACTCACAAAAAGTCCCA... | TTACTGCTCAATGATCAACTAGAAAAAATATATAATACTAGATGGGATCTAATATATTCTAAATTCTTTAACTGGTAACTTGTCAATTTAAATGTCTTTGAACTACGCTTAGAGTTGTAACATCAAATGCTATAGAAACAGGCTGTAAAAATCTAAATGTCTCAAAATGGAAGCAAAGACATACCTATATAATGATTCATTTATCCAAATGAAATGTAAAGTAAATCCTTACTGGAAATTTTGACTTGAAAATAATAGACCATACAGAATTCTTGGATAGCTCATAAAATTTCAATTCAAATTACTCACAAAAAGTCCCA... | pathogenic | 280,260 |
Variant chromosome 17, position 61683785, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | GTCTTTGAACTACGCTTAGAGTTGTAACATCAAATGCTATAGAAACAGGCTGTAAAAATCTAAATGTCTCAAAATGGAAGCAAAGACATACCTATATAATGATTCATTTATCCAAATGAAATGTAAAGTAAATCCTTACTGGAAATTTTGACTTGAAAATAATAGACCATACAGAATTCTTGGATAGCTCATAAAATTTCAATTCAAATTACTCACAAAAAGTCCCAATGCCCAGTGAATAACAGATGTTTCTTAAAAAGAGATCAATGAATGTATTTTTGGAATGATGTCAGAGATGAGCCTCTTTTATAATCATTTTT... | GTCTTTGAACTACGCTTAGAGTTGTAACATCAAATGCTATAGAAACAGGCTGTAAAAATCTAAATGTCTCAAAATGGAAGCAAAGACATACCTATATAATGATTCATTTATCCAAATGAAATGTAAAGTAAATCCTTACTGGAAATTTTGACTTGAAAATAATAGACCATACAGAATTCTTGGATAGCTCATAAAATTTCAATTCAAATTACTCACAAAAAGTCCCAATGCCCAGTGAATAACAGATGTTTCTTAAAAAGAGATCAATGAATGTATTTTTGGAATGATGTCAGAGATGAGCCTCTTTTATAATCATTTTT... | pathogenic | 280,283 |
Mutation at chromosome 17, position 61683810, within BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | AACATCAAATGCTATAGAAACAGGCTGTAAAAATCTAAATGTCTCAAAATGGAAGCAAAGACATACCTATATAATGATTCATTTATCCAAATGAAATGTAAAGTAAATCCTTACTGGAAATTTTGACTTGAAAATAATAGACCATACAGAATTCTTGGATAGCTCATAAAATTTCAATTCAAATTACTCACAAAAAGTCCCAATGCCCAGTGAATAACAGATGTTTCTTAAAAAGAGATCAATGAATGTATTTTTGGAATGATGTCAGAGATGAGCCTCTTTTATAATCATTTTTGATTAGACATATAGCTTCATTCACA... | AACATCAAATGCTATAGAAACAGGCTGTAAAAATCTAAATGTCTCAAAATGGAAGCAAAGACATACCTATATAATGATTCATTTATCCAAATGAAATGTAAAGTAAATCCTTACTGGAAATTTTGACTTGAAAATAATAGACCATACAGAATTCTTGGATAGCTCATAAAATTTCAATTCAAATTACTCACAAAAAGTCCCAATGCCCAGTGAATAACAGATGTTTCTTAAAAAGAGATCAATGAATGTATTTTTGGAATGATGTCAGAGATGAGCCTCTTTTATAATCATTTTTGATTAGACATATAGCTTCATTCACA... | pathogenic | 280,290 |
A genetic alteration at chromosome 17, position 61683837, in gene BRIP1 (BRCA1 interacting DNA helicase 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAAAAATCTAAATGTCTCAAAATGGAAGCAAAGACATACCTATATAATGATTCATTTATCCAAATGAAATGTAAAGTAAATCCTTACTGGAAATTTTGACTTGAAAATAATAGACCATACAGAATTCTTGGATAGCTCATAAAATTTCAATTCAAATTACTCACAAAAAGTCCCAATGCCCAGTGAATAACAGATGTTTCTTAAAAAGAGATCAATGAATGTATTTTTGGAATGATGTCAGAGATGAGCCTCTTTTATAATCATTTTTGATTAGACATATAGCTTCATTCACAAAAACACAAACAAGGTCAAAATTCACA... | TAAAAATCTAAATGTCTCAAAATGGAAGCAAAGACATACCTATATAATGATTCATTTATCCAAATGAAATGTAAAGTAAATCCTTACTGGAAATTTTGACTTGAAAATAATAGACCATACAGAATTCTTGGATAGCTCATAAAATTTCAATTCAAATTACTCACAAAAAGTCCCAATGCCCAGTGAATAACAGATGTTTCTTAAAAAGAGATCAATGAATGTATTTTTGGAATGATGTCAGAGATGAGCCTCTTTTATAATCATTTTTGATTAGACATATAGCTTCATTCACAAAAACACAAACAAGGTCAAAATTCACA... | pathogenic | 280,298 |
Determine if the mutation at chromosome 17, position 61683973 in gene BRIP1 (BRCA1 interacting DNA helicase 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Gastric_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCATAAAATTTCAATTCAAATTACTCACAAAAAGTCCCAATGCCCAGTGAATAACAGATGTTTCTTAAAAAGAGATCAATGAATGTATTTTTGGAATGATGTCAGAGATGAGCCTCTTTTATAATCATTTTTGATTAGACATATAGCTTCATTCACAAAAACACAAACAAGGTCAAAATTCACAGAAAGGATTACTGTGCCCTAAGGAAACATATTTTAGCTGCAGCTATAAATGTGGGTTTGCTTATCAAATTTATATATGAAGTTTTCTATCTTAATCATTGTATAACTAAAGCTTATGCTAGAACAATACCAGAGGG... | TCATAAAATTTCAATTCAAATTACTCACAAAAAGTCCCAATGCCCAGTGAATAACAGATGTTTCTTAAAAAGAGATCAATGAATGTATTTTTGGAATGATGTCAGAGATGAGCCTCTTTTATAATCATTTTTGATTAGACATATAGCTTCATTCACAAAAACACAAACAAGGTCAAAATTCACAGAAAGGATTACTGTGCCCTAAGGAAACATATTTTAGCTGCAGCTATAAATGTGGGTTTGCTTATCAAATTTATATATGAAGTTTTCTATCTTAATCATTGTATAACTAAAGCTTATGCTAGAACAATACCAGAGGG... | pathogenic | 280,327 |
Does the variant impacting BRIP1 (BRCA1 interacting DNA helicase 1) on chromosome 17, position 61684041, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['BRIP1-related_disorder', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AAAGAGATCAATGAATGTATTTTTGGAATGATGTCAGAGATGAGCCTCTTTTATAATCATTTTTGATTAGACATATAGCTTCATTCACAAAAACACAAACAAGGTCAAAATTCACAGAAAGGATTACTGTGCCCTAAGGAAACATATTTTAGCTGCAGCTATAAATGTGGGTTTGCTTATCAAATTTATATATGAAGTTTTCTATCTTAATCATTGTATAACTAAAGCTTATGCTAGAACAATACCAGAGGGGATAAATTGTTTCACCCTTTCTAAACAATGTAGAAATTACCTTCTAGTCTAGTGTTTGGTACTTATTA... | AAAGAGATCAATGAATGTATTTTTGGAATGATGTCAGAGATGAGCCTCTTTTATAATCATTTTTGATTAGACATATAGCTTCATTCACAAAAACACAAACAAGGTCAAAATTCACAGAAAGGATTACTGTGCCCTAAGGAAACATATTTTAGCTGCAGCTATAAATGTGGGTTTGCTTATCAAATTTATATATGAAGTTTTCTATCTTAATCATTGTATAACTAAAGCTTATGCTAGAACAATACCAGAGGGGATAAATTGTTTCACCCTTTCTAAACAATGTAGAAATTACCTTCTAGTCTAGTGTTTGGTACTTATTA... | pathogenic | 280,344 |
Mutation found at chromosome 17 position 61684052, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['BRIP1-associated_familial_cancer_predisposition', 'Breast_cancer,_early-onset', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGAATGTATTTTTGGAATGATGTCAGAGATGAGCCTCTTTTATAATCATTTTTGATTAGACATATAGCTTCATTCACAAAAACACAAACAAGGTCAAAATTCACAGAAAGGATTACTGTGCCCTAAGGAAACATATTTTAGCTGCAGCTATAAATGTGGGTTTGCTTATCAAATTTATATATGAAGTTTTCTATCTTAATCATTGTATAACTAAAGCTTATGCTAGAACAATACCAGAGGGGATAAATTGTTTCACCCTTTCTAAACAATGTAGAAATTACCTTCTAGTCTAGTGTTTGGTACTTATTACTCACTGATCC... | TGAATGTATTTTTGGAATGATGTCAGAGATGAGCCTCTTTTATAATCATTTTTGATTAGACATATAGCTTCATTCACAAAAACACAAACAAGGTCAAAATTCACAGAAAGGATTACTGTGCCCTAAGGAAACATATTTTAGCTGCAGCTATAAATGTGGGTTTGCTTATCAAATTTATATATGAAGTTTTCTATCTTAATCATTGTATAACTAAAGCTTATGCTAGAACAATACCAGAGGGGATAAATTGTTTCACCCTTTCTAAACAATGTAGAAATTACCTTCTAGTCTAGTGTTTGGTACTTATTACTCACTGATCC... | pathogenic | 280,346 |
Located at chromosome 17 position 61684083, the variant affecting gene BRIP1 (BRCA1 interacting DNA helicase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AGCCTCTTTTATAATCATTTTTGATTAGACATATAGCTTCATTCACAAAAACACAAACAAGGTCAAAATTCACAGAAAGGATTACTGTGCCCTAAGGAAACATATTTTAGCTGCAGCTATAAATGTGGGTTTGCTTATCAAATTTATATATGAAGTTTTCTATCTTAATCATTGTATAACTAAAGCTTATGCTAGAACAATACCAGAGGGGATAAATTGTTTCACCCTTTCTAAACAATGTAGAAATTACCTTCTAGTCTAGTGTTTGGTACTTATTACTCACTGATCCACTAGGAAAAATATATAATACTAAGCAGGAT... | AGCCTCTTTTATAATCATTTTTGATTAGACATATAGCTTCATTCACAAAAACACAAACAAGGTCAAAATTCACAGAAAGGATTACTGTGCCCTAAGGAAACATATTTTAGCTGCAGCTATAAATGTGGGTTTGCTTATCAAATTTATATATGAAGTTTTCTATCTTAATCATTGTATAACTAAAGCTTATGCTAGAACAATACCAGAGGGGATAAATTGTTTCACCCTTTCTAAACAATGTAGAAATTACCTTCTAGTCTAGTGTTTGGTACTTATTACTCACTGATCCACTAGGAAAAATATATAATACTAAGCAGGAT... | pathogenic | 280,352 |
The genetic variant at chromosome 17, position 61684098, affecting gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast_carcinoma', 'Familial_cancer_of_breast', 'Fanconi_anemia', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | CATTTTTGATTAGACATATAGCTTCATTCACAAAAACACAAACAAGGTCAAAATTCACAGAAAGGATTACTGTGCCCTAAGGAAACATATTTTAGCTGCAGCTATAAATGTGGGTTTGCTTATCAAATTTATATATGAAGTTTTCTATCTTAATCATTGTATAACTAAAGCTTATGCTAGAACAATACCAGAGGGGATAAATTGTTTCACCCTTTCTAAACAATGTAGAAATTACCTTCTAGTCTAGTGTTTGGTACTTATTACTCACTGATCCACTAGGAAAAATATATAATACTAAGCAGGATCTAGTATTTTTTTCC... | CATTTTTGATTAGACATATAGCTTCATTCACAAAAACACAAACAAGGTCAAAATTCACAGAAAGGATTACTGTGCCCTAAGGAAACATATTTTAGCTGCAGCTATAAATGTGGGTTTGCTTATCAAATTTATATATGAAGTTTTCTATCTTAATCATTGTATAACTAAAGCTTATGCTAGAACAATACCAGAGGGGATAAATTGTTTCACCCTTTCTAAACAATGTAGAAATTACCTTCTAGTCTAGTGTTTGGTACTTATTACTCACTGATCCACTAGGAAAAATATATAATACTAAGCAGGATCTAGTATTTTTTTCC... | pathogenic | 280,353 |
Evaluate if the mutation on chromosome 17 at position 61684122 in BRIP1 (BRCA1 interacting DNA helicase 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CATTCACAAAAACACAAACAAGGTCAAAATTCACAGAAAGGATTACTGTGCCCTAAGGAAACATATTTTAGCTGCAGCTATAAATGTGGGTTTGCTTATCAAATTTATATATGAAGTTTTCTATCTTAATCATTGTATAACTAAAGCTTATGCTAGAACAATACCAGAGGGGATAAATTGTTTCACCCTTTCTAAACAATGTAGAAATTACCTTCTAGTCTAGTGTTTGGTACTTATTACTCACTGATCCACTAGGAAAAATATATAATACTAAGCAGGATCTAGTATTTTTTTCCACAATGATGGTGAAGCTAAATAAT... | CATTCACAAAAACACAAACAAGGTCAAAATTCACAGAAAGGATTACTGTGCCCTAAGGAAACATATTTTAGCTGCAGCTATAAATGTGGGTTTGCTTATCAAATTTATATATGAAGTTTTCTATCTTAATCATTGTATAACTAAAGCTTATGCTAGAACAATACCAGAGGGGATAAATTGTTTCACCCTTTCTAAACAATGTAGAAATTACCTTCTAGTCTAGTGTTTGGTACTTATTACTCACTGATCCACTAGGAAAAATATATAATACTAAGCAGGATCTAGTATTTTTTTCCACAATGATGGTGAAGCTAAATAAT... | pathogenic | 280,356 |
Chromosome 17, position 61684155, gene BRIP1 (BRCA1 interacting DNA helicase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CAGAAAGGATTACTGTGCCCTAAGGAAACATATTTTAGCTGCAGCTATAAATGTGGGTTTGCTTATCAAATTTATATATGAAGTTTTCTATCTTAATCATTGTATAACTAAAGCTTATGCTAGAACAATACCAGAGGGGATAAATTGTTTCACCCTTTCTAAACAATGTAGAAATTACCTTCTAGTCTAGTGTTTGGTACTTATTACTCACTGATCCACTAGGAAAAATATATAATACTAAGCAGGATCTAGTATTTTTTTCCACAATGATGGTGAAGCTAAATAATTAGAATAGAAAATTTGGAATACTTCATTTGGCA... | CAGAAAGGATTACTGTGCCCTAAGGAAACATATTTTAGCTGCAGCTATAAATGTGGGTTTGCTTATCAAATTTATATATGAAGTTTTCTATCTTAATCATTGTATAACTAAAGCTTATGCTAGAACAATACCAGAGGGGATAAATTGTTTCACCCTTTCTAAACAATGTAGAAATTACCTTCTAGTCTAGTGTTTGGTACTTATTACTCACTGATCCACTAGGAAAAATATATAATACTAAGCAGGATCTAGTATTTTTTTCCACAATGATGGTGAAGCTAAATAATTAGAATAGAAAATTTGGAATACTTCATTTGGCA... | benign | 280,360 |
A genetic variant on chromosome 17, position 61685812, affects the gene BRIP1 (BRCA1 interacting DNA helicase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | ACAGAGCGGATGTTCAGAATGATTTTTTCTAGTAAGGGTGGCATCAATCTTTAATGATGAAATAATGGTTTCTGATTGAGGGCATGATCCAAACGATGTGTTTACTGTCAGATTTGAGGATTCACATTTATCAGTGAAGGGCAAAACAGTTTTACTTTCCATCTTCTCTGTTTTGAAACGGGGAGGACTAGAGGCACTATTCTCTGATGACCCGAGCTCAGGTGTTGCCTTCGGTATTTTACCAGTAAAATACTGTCCCAAAGAATTAAAGCTTGACCAGCTAACTCTCTTTGTTTGTTTGTTGAAAGTTGGGCTTGTGG... | ACAGAGCGGATGTTCAGAATGATTTTTTCTAGTAAGGGTGGCATCAATCTTTAATGATGAAATAATGGTTTCTGATTGAGGGCATGATCCAAACGATGTGTTTACTGTCAGATTTGAGGATTCACATTTATCAGTGAAGGGCAAAACAGTTTTACTTTCCATCTTCTCTGTTTTGAAACGGGGAGGACTAGAGGCACTATTCTCTGATGACCCGAGCTCAGGTGTTGCCTTCGGTATTTTACCAGTAAAATACTGTCCCAAAGAATTAAAGCTTGACCAGCTAACTCTCTTTGTTTGTTTGTTGAAAGTTGGGCTTGTGG... | benign | 280,367 |
Is the chromosome 17, position 61685986 variant in BRIP1 (BRCA1 interacting DNA helicase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAAACGGGGAGGACTAGAGGCACTATTCTCTGATGACCCGAGCTCAGGTGTTGCCTTCGGTATTTTACCAGTAAAATACTGTCCCAAAGAATTAAAGCTTGACCAGCTAACTCTCTTTGTTTGTTTGTTGAAAGTTGGGCTTGTGGATCTGGAAATCACAATTTTTTCTGCTTTCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGA... | GAAACGGGGAGGACTAGAGGCACTATTCTCTGATGACCCGAGCTCAGGTGTTGCCTTCGGTATTTTACCAGTAAAATACTGTCCCAAAGAATTAAAGCTTGACCAGCTAACTCTCTTTGTTTGTTTGTTGAAAGTTGGGCTTGTGGATCTGGAAATCACAATTTTTTCTGCTTTCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGA... | pathogenic | 280,408 |
Clinically, how would you classify the variant at chromosome 17, position 61685999, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | CTAGAGGCACTATTCTCTGATGACCCGAGCTCAGGTGTTGCCTTCGGTATTTTACCAGTAAAATACTGTCCCAAAGAATTAAAGCTTGACCAGCTAACTCTCTTTGTTTGTTTGTTGAAAGTTGGGCTTGTGGATCTGGAAATCACAATTTTTTCTGCTTTCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGAGCCCCCAACGAAT... | CTAGAGGCACTATTCTCTGATGACCCGAGCTCAGGTGTTGCCTTCGGTATTTTACCAGTAAAATACTGTCCCAAAGAATTAAAGCTTGACCAGCTAACTCTCTTTGTTTGTTTGTTGAAAGTTGGGCTTGTGGATCTGGAAATCACAATTTTTTCTGCTTTCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGAGCCCCCAACGAAT... | pathogenic | 280,414 |
Gene BRIP1 (BRCA1 interacting DNA helicase 1) variant at chromosome 17, position 61686003—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AGGCACTATTCTCTGATGACCCGAGCTCAGGTGTTGCCTTCGGTATTTTACCAGTAAAATACTGTCCCAAAGAATTAAAGCTTGACCAGCTAACTCTCTTTGTTTGTTTGTTGAAAGTTGGGCTTGTGGATCTGGAAATCACAATTTTTTCTGCTTTCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGAGCCCCCAACGAATACTA... | AGGCACTATTCTCTGATGACCCGAGCTCAGGTGTTGCCTTCGGTATTTTACCAGTAAAATACTGTCCCAAAGAATTAAAGCTTGACCAGCTAACTCTCTTTGTTTGTTTGTTGAAAGTTGGGCTTGTGGATCTGGAAATCACAATTTTTTCTGCTTTCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGAGCCCCCAACGAATACTA... | pathogenic | 280,416 |
Determine whether the variant at chromosome 17, position 61686008, in gene BRIP1 (BRCA1 interacting DNA helicase 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_cancer'] | CTATTCTCTGATGACCCGAGCTCAGGTGTTGCCTTCGGTATTTTACCAGTAAAATACTGTCCCAAAGAATTAAAGCTTGACCAGCTAACTCTCTTTGTTTGTTTGTTGAAAGTTGGGCTTGTGGATCTGGAAATCACAATTTTTTCTGCTTTCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGAGCCCCCAACGAATACTAGTGGA... | CTATTCTCTGATGACCCGAGCTCAGGTGTTGCCTTCGGTATTTTACCAGTAAAATACTGTCCCAAAGAATTAAAGCTTGACCAGCTAACTCTCTTTGTTTGTTTGTTGAAAGTTGGGCTTGTGGATCTGGAAATCACAATTTTTTCTGCTTTCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGAGCCCCCAACGAATACTAGTGGA... | pathogenic | 280,417 |
The mutation impacting BRIP1 (BRCA1 interacting DNA helicase 1) on chromosome 17 at position 61686026: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | AGCTCAGGTGTTGCCTTCGGTATTTTACCAGTAAAATACTGTCCCAAAGAATTAAAGCTTGACCAGCTAACTCTCTTTGTTTGTTTGTTGAAAGTTGGGCTTGTGGATCTGGAAATCACAATTTTTTCTGCTTTCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGAGCCCCCAACGAATACTAGTGGATTTTCATCTTGGAACAGA... | AGCTCAGGTGTTGCCTTCGGTATTTTACCAGTAAAATACTGTCCCAAAGAATTAAAGCTTGACCAGCTAACTCTCTTTGTTTGTTTGTTGAAAGTTGGGCTTGTGGATCTGGAAATCACAATTTTTTCTGCTTTCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGAGCCCCCAACGAATACTAGTGGATTTTCATCTTGGAACAGA... | pathogenic | 280,420 |
Is the chromosome 17, position 61686034 variant in BRIP1 (BRCA1 interacting DNA helicase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TGTTGCCTTCGGTATTTTACCAGTAAAATACTGTCCCAAAGAATTAAAGCTTGACCAGCTAACTCTCTTTGTTTGTTTGTTGAAAGTTGGGCTTGTGGATCTGGAAATCACAATTTTTTCTGCTTTCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGAGCCCCCAACGAATACTAGTGGATTTTCATCTTGGAACAGAATATTAAC... | TGTTGCCTTCGGTATTTTACCAGTAAAATACTGTCCCAAAGAATTAAAGCTTGACCAGCTAACTCTCTTTGTTTGTTTGTTGAAAGTTGGGCTTGTGGATCTGGAAATCACAATTTTTTCTGCTTTCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGAGCCCCCAACGAATACTAGTGGATTTTCATCTTGGAACAGAATATTAAC... | pathogenic | 280,423 |
Is the genetic change at chromosome 17, position 61686050, within gene BRIP1 (BRCA1 interacting DNA helicase 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | TTACCAGTAAAATACTGTCCCAAAGAATTAAAGCTTGACCAGCTAACTCTCTTTGTTTGTTTGTTGAAAGTTGGGCTTGTGGATCTGGAAATCACAATTTTTTCTGCTTTCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGAGCCCCCAACGAATACTAGTGGATTTTCATCTTGGAACAGAATATTAACTCTGAAAGAAATCTTA... | TTACCAGTAAAATACTGTCCCAAAGAATTAAAGCTTGACCAGCTAACTCTCTTTGTTTGTTTGTTGAAAGTTGGGCTTGTGGATCTGGAAATCACAATTTTTTCTGCTTTCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGAGCCCCCAACGAATACTAGTGGATTTTCATCTTGGAACAGAATATTAACTCTGAAAGAAATCTTA... | pathogenic | 280,426 |
Variant chromosome 17, position 61686053, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? Disease(s)? | pathogenic; ['BRIP1-related_disorder', 'Breast_and/or_ovarian_cancer', 'Carcinoma_of_pancreas', 'Familial_cancer_of_breast', 'Familial_ovarian_cancer', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast', 'Ovarian_neoplasm'] | CCAGTAAAATACTGTCCCAAAGAATTAAAGCTTGACCAGCTAACTCTCTTTGTTTGTTTGTTGAAAGTTGGGCTTGTGGATCTGGAAATCACAATTTTTTCTGCTTTCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGAGCCCCCAACGAATACTAGTGGATTTTCATCTTGGAACAGAATATTAACTCTGAAAGAAATCTTAGGT... | CCAGTAAAATACTGTCCCAAAGAATTAAAGCTTGACCAGCTAACTCTCTTTGTTTGTTTGTTGAAAGTTGGGCTTGTGGATCTGGAAATCACAATTTTTTCTGCTTTCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGAGCCCCCAACGAATACTAGTGGATTTTCATCTTGGAACAGAATATTAACTCTGAAAGAAATCTTAGGT... | pathogenic | 280,427 |
Is the genetic mutation found on chromosome 17 at position 61686100, within the gene BRIP1 (BRCA1 interacting DNA helicase 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | CTTTGTTTGTTTGTTGAAAGTTGGGCTTGTGGATCTGGAAATCACAATTTTTTCTGCTTTCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGAGCCCCCAACGAATACTAGTGGATTTTCATCTTGGAACAGAATATTAACTCTGAAAGAAATCTTAGGTCTCTAATGTTTCCTAGCCCAAGTTATAATGCTGTCTGGTAAACTATC... | CTTTGTTTGTTTGTTGAAAGTTGGGCTTGTGGATCTGGAAATCACAATTTTTTCTGCTTTCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGAGCCCCCAACGAATACTAGTGGATTTTCATCTTGGAACAGAATATTAACTCTGAAAGAAATCTTAGGTCTCTAATGTTTCCTAGCCCAAGTTATAATGCTGTCTGGTAAACTATC... | pathogenic | 280,438 |
Is the chromosome 17, position 61686134 variant in BRIP1 (BRCA1 interacting DNA helicase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | CTGGAAATCACAATTTTTTCTGCTTTCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGAGCCCCCAACGAATACTAGTGGATTTTCATCTTGGAACAGAATATTAACTCTGAAAGAAATCTTAGGTCTCTAATGTTTCCTAGCCCAAGTTATAATGCTGTCTGGTAAACTATCAAATTCCACAGCAGGGAGCTCAAGAATGAATGAG... | CTGGAAATCACAATTTTTTCTGCTTTCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGAGCCCCCAACGAATACTAGTGGATTTTCATCTTGGAACAGAATATTAACTCTGAAAGAAATCTTAGGTCTCTAATGTTTCCTAGCCCAAGTTATAATGCTGTCTGGTAAACTATCAAATTCCACAGCAGGGAGCTCAAGAATGAATGAG... | pathogenic | 280,445 |
Variant in gene BRIP1 (BRCA1 interacting DNA helicase 1), located at chromosome 17 position 61686151: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | TTCTGCTTTCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGAGCCCCCAACGAATACTAGTGGATTTTCATCTTGGAACAGAATATTAACTCTGAAAGAAATCTTAGGTCTCTAATGTTTCCTAGCCCAAGTTATAATGCTGTCTGGTAAACTATCAAATTCCACAGCAGGGAGCTCAAGAATGAATGAGGAAAGAAGGGGTAAAAG... | TTCTGCTTTCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGAGCCCCCAACGAATACTAGTGGATTTTCATCTTGGAACAGAATATTAACTCTGAAAGAAATCTTAGGTCTCTAATGTTTCCTAGCCCAAGTTATAATGCTGTCTGGTAAACTATCAAATTCCACAGCAGGGAGCTCAAGAATGAATGAGGAAAGAAGGGGTAAAAG... | pathogenic | 280,452 |
Clinical classification of chromosome 17, position 61686159, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | TCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGAGCCCCCAACGAATACTAGTGGATTTTCATCTTGGAACAGAATATTAACTCTGAAAGAAATCTTAGGTCTCTAATGTTTCCTAGCCCAAGTTATAATGCTGTCTGGTAAACTATCAAATTCCACAGCAGGGAGCTCAAGAATGAATGAGGAAAGAAGGGGTAAAAGGGAAGAGG... | TCCCTGCTTCTTCCAGGAATACTGGATCATCTAAGAATACAAGAATTTAAGAGATTTAACTTTCTGCTCCTAGCTAACATAATTGCTAGGTTAAAATAATTATTTATTAGAAATACCTAAATAACTGTATAGGATACATAACTTAGAGCCCCCAACGAATACTAGTGGATTTTCATCTTGGAACAGAATATTAACTCTGAAAGAAATCTTAGGTCTCTAATGTTTCCTAGCCCAAGTTATAATGCTGTCTGGTAAACTATCAAATTCCACAGCAGGGAGCTCAAGAATGAATGAGGAAAGAAGGGGTAAAAGGGAAGAGG... | pathogenic | 280,456 |
A genetic variant on chromosome 17, position 61693467, affects the gene BRIP1 (BRCA1 interacting DNA helicase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATTGGAACACCTAATATTGTCAGAATGTCCATACTACTGAAAGCAATCTTTTTTTGAGACAGAATCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGCGGTCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCAGAATAGTTGAGATTACAGGCACCCGCCACCGCACCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAACACTGGGATTACAGGCGTGAG... | ATTGGAACACCTAATATTGTCAGAATGTCCATACTACTGAAAGCAATCTTTTTTTGAGACAGAATCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGCGGTCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCAGAATAGTTGAGATTACAGGCACCCGCCACCGCACCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAACACTGGGATTACAGGCGTGAG... | pathogenic | 280,481 |
Gene mutation in BRIP1 (BRCA1 interacting DNA helicase 1) at chromosome 17, position 61693479—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AATATTGTCAGAATGTCCATACTACTGAAAGCAATCTTTTTTTGAGACAGAATCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGCGGTCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCAGAATAGTTGAGATTACAGGCACCCGCCACCGCACCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAACACTGGGATTACAGGCGTGAGCCACCATGCCCG... | AATATTGTCAGAATGTCCATACTACTGAAAGCAATCTTTTTTTGAGACAGAATCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGCGGTCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCAGAATAGTTGAGATTACAGGCACCCGCCACCGCACCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAACACTGGGATTACAGGCGTGAGCCACCATGCCCG... | pathogenic | 280,485 |
Variant chromosome 17, position 61693483, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTGTCAGAATGTCCATACTACTGAAAGCAATCTTTTTTTGAGACAGAATCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGCGGTCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCAGAATAGTTGAGATTACAGGCACCCGCCACCGCACCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAACACTGGGATTACAGGCGTGAGCCACCATGCCCGGCTG... | TTGTCAGAATGTCCATACTACTGAAAGCAATCTTTTTTTGAGACAGAATCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGCGGTCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCAGAATAGTTGAGATTACAGGCACCCGCCACCGCACCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAACACTGGGATTACAGGCGTGAGCCACCATGCCCGGCTG... | pathogenic | 280,487 |
The mutation in gene BRIP1 (BRCA1 interacting DNA helicase 1) at chromosome 17, position 61693494—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_breast_ovarian_cancer_syndrome'] | TCCATACTACTGAAAGCAATCTTTTTTTGAGACAGAATCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGCGGTCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCAGAATAGTTGAGATTACAGGCACCCGCCACCGCACCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAACACTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGCAATCTAAATT... | TCCATACTACTGAAAGCAATCTTTTTTTGAGACAGAATCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGCGGTCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCAGAATAGTTGAGATTACAGGCACCCGCCACCGCACCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAACACTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGCAATCTAAATT... | pathogenic | 280,492 |
Clinically, how would you classify the variant at chromosome 17, position 61693496, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | CATACTACTGAAAGCAATCTTTTTTTGAGACAGAATCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGCGGTCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCAGAATAGTTGAGATTACAGGCACCCGCCACCGCACCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAACACTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGCAATCTAAATTCA... | CATACTACTGAAAGCAATCTTTTTTTGAGACAGAATCTTGCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGCGGTCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCAGAATAGTTGAGATTACAGGCACCCGCCACCGCACCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAACACTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGCAATCTAAATTCA... | pathogenic | 280,493 |
Chromosome 17, position 61715927, gene BRIP1 (BRCA1 interacting DNA helicase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AAAATAGAAAAAGCTTATAGAATAAGGATATAAAAATTATTTTTGTACAGCTGTATAATTTGTGTTTTAAGCTAAGTGTTGTAAAAGAGTCAAAAAGGTAAAAAAAAAGATAAAAAGATAAAAAGTTTATAAAGTAAAAAAGTTACAGCAAGCTGGGCACAGTGGCGTGTGCCTGGAGTTCCAGCTACTTGGGAGGCTAAGGTGAGAGGACTGCTTGAACCCAGGTGTTCGAGACCAGCCTGGGCAACATAGCCATACCTCATCTCTCAAAAAGAAAAAGTCAGAATAAGCTCAGGGTAATTTATTATTGAAAAAATAAA... | AAAATAGAAAAAGCTTATAGAATAAGGATATAAAAATTATTTTTGTACAGCTGTATAATTTGTGTTTTAAGCTAAGTGTTGTAAAAGAGTCAAAAAGGTAAAAAAAAAGATAAAAAGATAAAAAGTTTATAAAGTAAAAAAGTTACAGCAAGCTGGGCACAGTGGCGTGTGCCTGGAGTTCCAGCTACTTGGGAGGCTAAGGTGAGAGGACTGCTTGAACCCAGGTGTTCGAGACCAGCCTGGGCAACATAGCCATACCTCATCTCTCAAAAAGAAAAAGTCAGAATAAGCTCAGGGTAATTTATTATTGAAAAAATAAA... | benign | 280,507 |
The genetic variant at chromosome 17, position 61715935, affecting gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | AAAAGCTTATAGAATAAGGATATAAAAATTATTTTTGTACAGCTGTATAATTTGTGTTTTAAGCTAAGTGTTGTAAAAGAGTCAAAAAGGTAAAAAAAAAGATAAAAAGATAAAAAGTTTATAAAGTAAAAAAGTTACAGCAAGCTGGGCACAGTGGCGTGTGCCTGGAGTTCCAGCTACTTGGGAGGCTAAGGTGAGAGGACTGCTTGAACCCAGGTGTTCGAGACCAGCCTGGGCAACATAGCCATACCTCATCTCTCAAAAAGAAAAAGTCAGAATAAGCTCAGGGTAATTTATTATTGAAAAAATAAAAATAAATA... | AAAAGCTTATAGAATAAGGATATAAAAATTATTTTTGTACAGCTGTATAATTTGTGTTTTAAGCTAAGTGTTGTAAAAGAGTCAAAAAGGTAAAAAAAAAGATAAAAAGATAAAAAGTTTATAAAGTAAAAAAGTTACAGCAAGCTGGGCACAGTGGCGTGTGCCTGGAGTTCCAGCTACTTGGGAGGCTAAGGTGAGAGGACTGCTTGAACCCAGGTGTTCGAGACCAGCCTGGGCAACATAGCCATACCTCATCTCTCAAAAAGAAAAAGTCAGAATAAGCTCAGGGTAATTTATTATTGAAAAAATAAAAATAAATA... | benign | 280,508 |
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