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 |
|---|---|---|---|---|---|
The genetic variant at chromosome 17, position 43092201, affecting gene BRCA1: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAAACACCAAAATTGCGATTGCTGGCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTC... | TAAACACCAAAATTGCGATTGCTGGCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTC... | pathogenic | 273,884 |
Clinical significance of chromosome 17, position 43092201, gene BRCA1: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | TAAACACCAAAATTGCGATTGCTGGCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTC... | TAAACACCAAAATTGCGATTGCTGGCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTC... | pathogenic | 273,885 |
Assess the variant on chromosome 17, position 43092204, impacting BRCA1: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | ACACCAAAATTGCGATTGCTGGCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGG... | ACACCAAAATTGCGATTGCTGGCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGG... | pathogenic | 273,888 |
A mutation at chromosome position 43092206 on chromosome 17 in gene BRCA1: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | ACCAAAATTGCGATTGCTGGCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCG... | ACCAAAATTGCGATTGCTGGCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCG... | pathogenic | 273,889 |
The mutation impacting BRCA1 on chromosome 17 at position 43092213: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | TTGCGATTGCTGGCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCC... | TTGCGATTGCTGGCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCC... | pathogenic | 273,891 |
Variant in gene BRCA1, located at chromosome 17 position 43092216: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CGATTGCTGGCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGT... | CGATTGCTGGCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGT... | pathogenic | 273,893 |
Variant on chromosome 17, at position 43092221, affecting BRCA1: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GCTGGCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAG... | GCTGGCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAG... | pathogenic | 273,895 |
Is the genetic mutation found on chromosome 17 at position 43092222, within the gene BRCA1, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTGGCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGC... | CTGGCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGC... | pathogenic | 273,896 |
Variant in gene BRCA1, located at chromosome 17 position 43092223: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TGGCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCC... | TGGCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCC... | pathogenic | 273,898 |
Gene mutation in BRCA1 at chromosome 17, position 43092225—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTC... | GCAATAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTC... | pathogenic | 273,900 |
Considering the variant on chromosome 17, location 43092229, involving gene BRCA1, 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,_1', 'Hereditary_cancer-predisposing_syndrome'] | TAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGA... | TAATATTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGA... | pathogenic | 273,901 |
Is the genetic variant on chromosome 17, position 43092234, gene BRCA1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGC... | TTGGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGC... | pathogenic | 273,903 |
Variant in gene BRCA1, located at chromosome 17 position 43092236: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['BRCA1-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTG... | GGTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTG... | pathogenic | 273,905 |
Determine if the mutation at chromosome 17, position 43092237 in gene BRCA1 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGG... | GTGAGAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGG... | pathogenic | 273,906 |
Located at chromosome 17 position 43092241, the variant affecting gene BRCA1—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATT... | GAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATT... | pathogenic | 273,907 |
For chromosome 17, position 43092241, gene BRCA1: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | GAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATT... | GAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATT... | pathogenic | 273,908 |
Mutation found at chromosome 17 position 43092241, gene BRCA1: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATT... | GAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATT... | pathogenic | 273,909 |
Considering the variant on chromosome 17, location 43092241, involving gene BRCA1, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATT... | GAGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATT... | pathogenic | 273,910 |
Does the variant on chromosome 17 at location 43092242 affecting gene BRCA1 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | AGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTA... | AGTTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTA... | pathogenic | 273,911 |
A genetic alteration at chromosome 17, position 43092244, in gene BRCA1—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACA... | TTCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACA... | pathogenic | 273,912 |
Is the genetic mutation found on chromosome 17 at position 43092245, within the gene BRCA1, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | TCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAA... | TCTGTACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAA... | pathogenic | 273,914 |
Clinical significance of chromosome 17, position 43092250, gene BRCA1: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | ACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCAT... | ACCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCAT... | pathogenic | 273,916 |
Mutation found at chromosome 17 position 43092251, gene BRCA1: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | CCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATT... | CCTGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATT... | pathogenic | 273,917 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 43092253, gene BRCA1. What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGG... | TGGCTGTGTGGCCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGG... | pathogenic | 273,919 |
Does the chromosome 17 mutation at position 43092264 within gene BRCA1 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_neoplasm'] | CCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCC... | CCTTAGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCC... | pathogenic | 273,923 |
Variant at chromosome 17, position 43092268, gene BRCA1: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | AGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCT... | AGGCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCT... | pathogenic | 273,925 |
Considering the genetic mutation at chromosome 17, position 43092270, impacting BRCA1: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAA... | GCAGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAA... | pathogenic | 273,926 |
Clinically, how would you classify the variant at chromosome 17, position 43092272, gene BRCA1: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATT... | AGTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATT... | pathogenic | 273,927 |
Is the variant located on chromosome 17 at position 43092273, gene BRCA1, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTT... | GTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTT... | pathogenic | 273,928 |
Gene BRCA1 variant at chromosome 17, position 43092273—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTT... | GTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTT... | pathogenic | 273,929 |
The genetic variant at chromosome 17, position 43092273, affecting gene BRCA1: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTT... | GTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTT... | pathogenic | 273,930 |
Clinical significance of chromosome 17, position 43092273, gene BRCA1: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTT... | GTTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTT... | pathogenic | 273,931 |
Evaluate if the mutation on chromosome 17 at position 43092274 in BRCA1 is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTT... | TTTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTT... | pathogenic | 273,932 |
Is chromosome 17, position 43092275, gene BRCA1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTT... | TTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTT... | pathogenic | 273,935 |
A genetic variant at chromosome 17, position 43092275, affecting gene BRCA1—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTT... | TTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTT... | pathogenic | 273,936 |
Clinically, how would you classify the variant at chromosome 17, position 43092275, gene BRCA1: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTT... | TTGCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTT... | pathogenic | 273,937 |
For chromosome 17, position 43092277, gene BRCA1: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGT... | GCTTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGT... | pathogenic | 273,938 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 43092279, gene BRCA1. What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | TTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTAT... | TTACCTTCTCTGACCTGCAGTAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTAT... | pathogenic | 273,939 |
Variant in BRCA1, chromosome 17, position 43092299—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTT... | TAGGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTT... | pathogenic | 273,947 |
Determine if the mutation at chromosome 17, position 43092301 in gene BRCA1 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['BRCA1-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,... | GGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCA... | GGCATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCA... | pathogenic | 273,948 |
Variant at chromosome 17, position 43092304, gene BRCA1: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCA... | ATATTCTTAAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCA... | pathogenic | 273,949 |
Variant chromosome 17, position 43092312, gene BRCA1: benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCC... | AAAATGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCC... | pathogenic | 273,951 |
Variant at chromosome 17, position 43092316, gene BRCA1: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGC... | TGGAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGC... | pathogenic | 273,952 |
Does the chromosome 17 mutation at position 43092318 within gene BRCA1 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTG... | GAGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTG... | pathogenic | 273,954 |
Benign or pathogenic: chromosome 17, position 43092319, gene BRCA1 (BRCA1 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | AGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGG... | AGCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGG... | pathogenic | 273,955 |
A genetic variant at chromosome 17, position 43092320, affecting gene BRCA1 (BRCA1 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGT... | GCTATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGT... | pathogenic | 273,956 |
For chromosome 17, position 43092322, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCT... | TATGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCT... | pathogenic | 273,959 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome 17, position 43092324—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | TGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCA... | TGCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCA... | pathogenic | 273,960 |
Clinically, how would you classify the variant at chromosome 17, position 43092325, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAA... | GCAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAA... | pathogenic | 273,961 |
Is the chromosome 17, position 43092326 variant in BRCA1 (BRCA1 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAA... | CAGAGTCCCTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAA... | pathogenic | 273,963 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43092334 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGAC... | CTTGAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGAC... | pathogenic | 273,964 |
Determine whether the variant at chromosome 17, position 43092337, in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTG... | GAATCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTG... | pathogenic | 273,966 |
Assess the variant on chromosome 17, position 43092340, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGG... | TCATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGG... | pathogenic | 273,967 |
Mutation found at chromosome 17 position 43092342, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTG... | ATCCTGCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTG... | pathogenic | 273,968 |
Located at chromosome 17 position 43092347, the variant affecting gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | GCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCA... | GCTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCA... | pathogenic | 273,969 |
Assess the variant on chromosome 17, position 43092348, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCAC... | CTGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCAC... | pathogenic | 273,970 |
Is chromosome 17, position 43092349, gene BRCA1 (BRCA1 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACC... | TGTGGCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACC... | pathogenic | 273,971 |
A genetic variant at chromosome 17, position 43092353, affecting gene BRCA1 (BRCA1 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACC... | GCTCCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACC... | pathogenic | 273,973 |
Variant at chromosome position 43092356, chromosome 17, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTG... | CCTTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTG... | pathogenic | 273,975 |
Is the genetic variant on chromosome 17, position 43092358, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGC... | TTTTTCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGC... | pathogenic | 273,976 |
Evaluate this variant at chromosome 17, position 43092362, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCC... | TCTCACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCC... | pathogenic | 273,978 |
For chromosome 17, position 43092366, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | ACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAA... | ACCTCTCTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAA... | pathogenic | 273,981 |
Evaluate this variant at chromosome 17, position 43092372, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTG... | CTTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTG... | pathogenic | 273,982 |
Evaluate if the mutation on chromosome 17 at position 43092373 in BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGG... | TTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGG... | pathogenic | 273,983 |
Chromosome 17, position 43092373, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGG... | TTGATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGG... | pathogenic | 273,984 |
Classify the chromosome 17 variant at position 43092375 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | GATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGA... | GATACAGTAAGTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGA... | pathogenic | 273,986 |
Variant chromosome 17, position 43092385, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATG... | GTGCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATG... | pathogenic | 273,990 |
Chromosome 17, position 43092387, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_cancer-predisposing_syndrome'] | GCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGG... | GCCGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGG... | pathogenic | 273,992 |
Is chromosome 17, position 43092389, gene BRCA1 (BRCA1 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTT... | CGTCATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTT... | pathogenic | 273,994 |
Is the genetic change at chromosome 17, position 43092392, within gene BRCA1 (BRCA1 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCG... | CATGTTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCG... | pathogenic | 273,995 |
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43092396—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | TTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGG... | TTTTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGG... | pathogenic | 273,998 |
Classify the chromosome 17 variant at position 43092398 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTT... | TTTGCTATAGGGGAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTT... | pathogenic | 273,999 |
Determine if the mutation at chromosome 17, position 43092410 in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCAT... | GAAATGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCAT... | pathogenic | 274,003 |
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43092414—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAA... | TGATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAA... | pathogenic | 274,005 |
Chromosome 17, position 43092415, gene BRCA1 (BRCA1 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | GATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAA... | GATGTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAA... | pathogenic | 274,006 |
Evaluate the clinical significance of the mutation at chromosome 17, position 43092418 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCA... | GTGTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCA... | pathogenic | 274,008 |
Mutation at chromosome 17, position 43092420, within BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGT... | GTTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGT... | pathogenic | 274,010 |
A genetic alteration at chromosome 17, position 43092421, in gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTA... | TTTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTA... | pathogenic | 274,011 |
Is the chromosome 17, position 43092422 variant in BRCA1 (BRCA1 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | TTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTAT... | TTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTAT... | pathogenic | 274,012 |
Does the genetic variant at chromosome 17, position 43092422, impacting gene BRCA1 (BRCA1 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTAT... | TTTTGTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTAT... | pathogenic | 274,013 |
Regarding the variant found on chromosome 17 at position 43092426 in gene BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAG... | GTTTGTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAG... | pathogenic | 274,015 |
Chromosome 17, position 43092430, gene BRCA1 (BRCA1 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATG... | GTTTGTTTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATG... | pathogenic | 274,017 |
The chromosome 17, position 43092436 genetic variant in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['BRCA1-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAA... | TTTTGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAA... | pathogenic | 274,019 |
A genetic alteration at chromosome 17, position 43092439, in gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGA... | TGAGATGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGA... | pathogenic | 274,021 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43092447: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCA... | AGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCA... | pathogenic | 274,024 |
Determine whether the variant at chromosome 17, position 43092464, in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGT... | CAGGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGT... | pathogenic | 274,029 |
Variant at chromosome position 43092466, chromosome 17, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGT... | GGCTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGT... | pathogenic | 274,031 |
Variant at chromosome 17, position 43092468, gene BRCA1 (BRCA1 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGT... | CTGGAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGT... | pathogenic | 274,033 |
Evaluate the clinical significance of the mutation at chromosome 17, position 43092471 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | GAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCG... | GAGTGCAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCG... | pathogenic | 274,035 |
Clinically, how would you classify the variant at chromosome 17, position 43092476, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGT... | CAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGT... | pathogenic | 274,037 |
Does the variant on chromosome 17 at location 43092476 affecting gene BRCA1 (BRCA1 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | CAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGT... | CAGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGT... | pathogenic | 274,038 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 43092477, gene BRCA1 (BRCA1 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | AGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGTG... | AGTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGTG... | pathogenic | 274,040 |
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43092478—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | GTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGTGC... | GTGGTACAATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGTGC... | pathogenic | 274,041 |
Clinical classification of chromosome 17, position 43092486, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGTGCGTGTGTGT... | ATCCCAGCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGTGCGTGTGTGT... | pathogenic | 274,044 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43092492: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGTGCGTGTGTGTGAAATA... | GCTCAGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGTGCGTGTGTGTGAAATA... | pathogenic | 274,045 |
Determine if the mutation at chromosome 17, position 43092496 in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGTGCGTGTGTGTGAAATAAAAG... | AGTGCAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGTGCGTGTGTGTGAAATAAAAG... | pathogenic | 274,047 |
Chromosome 17, position 43092500, gene BRCA1 (BRCA1 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGTGCGTGTGTGTGAAATAAAAGGTAG... | CAACCTCCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGTGCGTGTGTGTGAAATAAAAGGTAG... | pathogenic | 274,049 |
Variant on chromosome 17, at position 43092506, affecting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGTGCGTGTGTGTGAAATAAAAGGTAGTATGAG... | CCGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGTGCGTGTGTGTGAAATAAAAGGTAGTATGAG... | pathogenic | 274,052 |
Determine if the mutation at chromosome 17, position 43092507 in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGTGCGTGTGTGTGAAATAAAAGGTAGTATGAGT... | CGCCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGTGCGTGTGTGTGAAATAAAAGGTAGTATGAGT... | pathogenic | 274,054 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43092509 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | CCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGTGCGTGTGTGTGAAATAAAAGGTAGTATGAGTTC... | CCTCCCAGGTTCAGGCGATTCTCCTGTCTCAGCCTCCAGAATAGCTGGGATTACAAGGCATTGGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGATGTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTGAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTAGCAAATGGGTTTCGAAGGTTTAGCTTATTCATTAAAATCAGTATTTAGTATGCTACAATGAGCTAGGCAGTGTATGTGTAGGCTGTGTGTGCGCGTGTGCGTGTGTGTGAAATAAAAGGTAGTATGAGTTC... | pathogenic | 274,056 |
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