question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
Variant chromosome 17, position 43091462, gene BRCA1: benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAG... | TTCTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAG... | pathogenic | 273,348 |
Evaluate if the mutation on chromosome 17 at position 43091464 in BRCA1 is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGC... | CTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGC... | pathogenic | 273,349 |
Variant chromosome 17, position 43091464, gene BRCA1: benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_carcinoma'] | CTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGC... | CTGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGC... | pathogenic | 273,350 |
Determine whether the variant at chromosome 17, position 43091465, in gene BRCA1 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCG... | TGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCG... | pathogenic | 273,352 |
A mutation at chromosome position 43091465 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'] | TGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCG... | TGCCTTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCG... | pathogenic | 273,353 |
Classify the chromosome 17 variant at position 43091469 affecting gene BRCA1 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGT... | TTTAGTACATAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGT... | pathogenic | 273,354 |
Does the variant impacting BRCA1 on chromosome 17, position 43091478, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACAC... | TAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACAC... | pathogenic | 273,357 |
A mutation at chromosome position 43091478 on chromosome 17 in gene BRCA1: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACAC... | TAAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACAC... | pathogenic | 273,358 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 43091479, gene BRCA1. What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACC... | AAACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACC... | pathogenic | 273,359 |
Mutation at chromosome 17, position 43091480, within BRCA1: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCT... | AACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCT... | pathogenic | 273,361 |
Is the genetic change at chromosome 17, position 43091481, within gene BRCA1 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | ACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTG... | ACATTTCATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTG... | pathogenic | 273,364 |
Clinically, how would you classify the variant at chromosome 17, position 43091487, gene BRCA1: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCC... | CATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCC... | pathogenic | 273,368 |
Chromosome 17, position 43091488, gene BRCA1: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['BRCA1-related_cancer_predisposition', 'BRCA1-related_disorder', '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', 'Pancreatic_cancer,_susce... | ATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCC... | ATATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCC... | pathogenic | 273,369 |
A genetic variant on chromosome 17, position 43091489, affects the gene BRCA1. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | TATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCA... | TATTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCA... | pathogenic | 273,371 |
A genetic variant on chromosome 17, position 43091491, affects the gene BRCA1. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGC... | TTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGC... | pathogenic | 273,372 |
Does the chromosome 17 mutation at position 43091491 within gene BRCA1 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGC... | TTACATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGC... | pathogenic | 273,373 |
Variant at chromosome 17, position 43091494, 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'] | CATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATT... | CATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATT... | pathogenic | 273,376 |
Variant in BRCA1, chromosome 17, position 43091495—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['BRCA1-related_cancer_predisposition', 'BRCA1-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Inherited_breast_cancer_and_ovarian... | ATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTT... | ATTATCAAATGGTCATATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTT... | pathogenic | 273,378 |
Does the chromosome 17 mutation at position 43091511 within gene BRCA1 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGG... | ATATATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGG... | pathogenic | 273,382 |
Located at chromosome 17 position 43091514, 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_cancer-predisposing_syndrome'] | TATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGAT... | TATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGAT... | pathogenic | 273,385 |
Variant in gene BRCA1, located at chromosome 17 position 43091515: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATC... | ATGGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATC... | pathogenic | 273,386 |
Mutation at chromosome 17, position 43091517, within BRCA1: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCAC... | GGTAAAGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCAC... | pathogenic | 273,388 |
Is the variant located on chromosome 17 at position 43091522, gene BRCA1, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAG... | AGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAG... | pathogenic | 273,391 |
Assess the variant on chromosome 17, position 43091522, impacting BRCA1: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAG... | AGCTTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAG... | pathogenic | 273,392 |
Mutation at chromosome 17, position 43091525, within BRCA1: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCC... | TTTTATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCC... | pathogenic | 273,393 |
Variant in BRCA1, chromosome 17, position 43091529—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGA... | ATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGA... | pathogenic | 273,397 |
Is the genetic mutation found on chromosome 17 at position 43091529, within the gene BRCA1, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGA... | ATTTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGA... | pathogenic | 273,398 |
The chromosome 17, position 43091531 genetic variant in gene BRCA1: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATT... | TTATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATT... | pathogenic | 273,399 |
Variant chromosome 17, position 43091533, gene BRCA1: benign or pathogenic? Disease(s)? | pathogenic; ['Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTT... | ATTTCATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTT... | pathogenic | 273,400 |
Does the variant impacting BRCA1 on chromosome 17, position 43091537, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | CATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGA... | CATAGGTGACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGA... | pathogenic | 273,402 |
Gene BRCA1 variant at chromosome position 43091544 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCT... | GACCAAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCT... | pathogenic | 273,406 |
Gene BRCA1 variant at chromosome position 43091548 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | AAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGC... | AAATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGC... | pathogenic | 273,407 |
Located at chromosome 17 position 43091549, 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'] | AATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCA... | AATTATTGGCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCA... | pathogenic | 273,408 |
Is the genetic variant on chromosome 17, position 43091557, gene BRCA1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | GCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTG... | GCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTG... | pathogenic | 273,412 |
Gene BRCA1 variant at chromosome 17, position 43091557—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTG... | GCCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTG... | pathogenic | 273,413 |
A genetic variant at chromosome 17, position 43091558, affecting gene BRCA1—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGA... | CCTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGA... | pathogenic | 273,414 |
Regarding the variant at chromosome 17 and position 43091559, affecting gene BRCA1: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAG... | CTTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAG... | pathogenic | 273,415 |
Mutation at chromosome 17, position 43091560, within BRCA1: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | TTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGA... | TTGACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGA... | pathogenic | 273,416 |
Chromosome 17, position 43091563, gene BRCA1: 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'] | ACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGT... | ACCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGT... | pathogenic | 273,417 |
Is the genetic mutation found on chromosome 17 at position 43091564, within the gene BRCA1, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | CCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTT... | CCATTAGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTT... | pathogenic | 273,419 |
Chromosome 17, position 43091569, gene BRCA1: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTC... | AGGTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTC... | pathogenic | 273,421 |
Does the variant on chromosome 17 at location 43091571 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'] | GTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTA... | GTCCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTA... | pathogenic | 273,422 |
Clinical significance of chromosome 17, position 43091573, gene BRCA1: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | CCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGT... | CCAGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGT... | pathogenic | 273,423 |
A genetic alteration at chromosome 17, position 43091575, in gene BRCA1—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAA... | AGAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAA... | pathogenic | 273,424 |
Clinical significance of chromosome 17, position 43091576, gene BRCA1: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAA... | GAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAA... | pathogenic | 273,425 |
Is the variant located on chromosome 17 at position 43091576, gene BRCA1, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | GAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAA... | GAAAGTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAA... | pathogenic | 273,426 |
Considering the genetic mutation at chromosome 17, position 43091580, impacting BRCA1: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | GTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACT... | GTAAAATTGTGTACTTTCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACT... | pathogenic | 273,428 |
Determine if the mutation at chromosome 17, position 43091596 in gene BRCA1 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | TCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAG... | TCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAG... | pathogenic | 273,436 |
Determine if the mutation at chromosome 17, position 43091596 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'] | TCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAG... | TCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAG... | pathogenic | 273,437 |
Variant chromosome 17, position 43091598, gene BRCA1: benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Gastric_cancer', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGT... | TTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGT... | pathogenic | 273,438 |
Determine whether the variant at chromosome 17, position 43091600, in gene BRCA1 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | TTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGT... | TTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGT... | pathogenic | 273,439 |
Chromosome 17, position 43091602, gene BRCA1: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTG... | TTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTG... | pathogenic | 273,442 |
Gene BRCA1 variant at chromosome position 43091604 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGT... | TTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGT... | pathogenic | 273,443 |
Is the genetic variant on chromosome 17, position 43091613, gene BRCA1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTG... | GAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTG... | pathogenic | 273,445 |
A genetic variant at chromosome 17, position 43091613, 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', 'Ovarian_carcinoma'] | GAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTG... | GAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTG... | pathogenic | 273,446 |
Chromosome 17, position 43091616, gene BRCA1: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGG... | ATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGG... | pathogenic | 273,447 |
Located at chromosome 17 position 43091620, 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'] | AGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCC... | AGTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCC... | pathogenic | 273,448 |
Assess the variant on chromosome 17, position 43091621, impacting BRCA1: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCA... | GTTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCA... | pathogenic | 273,450 |
Variant in BRCA1, chromosome 17, position 43091622—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAG... | TTTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAG... | pathogenic | 273,451 |
Classify the chromosome 17 variant at position 43091623 affecting gene BRCA1 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGC... | TTCACTCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGC... | pathogenic | 273,453 |
Does the chromosome 17 mutation at position 43091628 within gene BRCA1 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTC... | TCTTGTTGCCCAGGCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTC... | pathogenic | 273,456 |
Variant chromosome 17, position 43091641, gene BRCA1: benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGT... | GCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGT... | pathogenic | 273,464 |
Chromosome 17, position 43091641, gene BRCA1: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGT... | GCTGGAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGT... | pathogenic | 273,465 |
Benign or pathogenic: chromosome 17, position 43091645, gene BRCA1 variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGA... | GAGAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGA... | pathogenic | 273,466 |
Assess the variant on chromosome 17, position 43091647, impacting BRCA1: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | GAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGG... | GAGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGG... | pathogenic | 273,467 |
Gene BRCA1 variant at chromosome 17, position 43091648—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGA... | AGCAGCAGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGA... | pathogenic | 273,468 |
Assess the variant on chromosome 17, position 43091654, impacting BRCA1: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | AGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTT... | AGCATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTT... | pathogenic | 273,470 |
Does the genetic variant at chromosome 17, position 43091656, impacting gene BRCA1, 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'] | CATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGA... | CATGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGA... | pathogenic | 273,471 |
A genetic variant at chromosome 17, position 43091658, affecting gene BRCA1—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGC... | TGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGC... | pathogenic | 273,472 |
A genetic variant at chromosome 17, position 43091659, affecting gene BRCA1—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | GATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCC... | GATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCC... | pathogenic | 273,473 |
Chromosome 17, position 43091659, gene BRCA1: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCC... | GATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCC... | pathogenic | 273,474 |
Does the genetic variant at chromosome 17, position 43091660, impacting gene BRCA1, 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'] | ATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCC... | ATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCC... | pathogenic | 273,475 |
Chromosome 17, position 43091665, gene BRCA1: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAA... | AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAA... | pathogenic | 273,477 |
Variant on chromosome 17, at position 43091668, affecting BRCA1: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTC... | TCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTC... | pathogenic | 273,478 |
Is the genetic change at chromosome 17, position 43091669, within gene BRCA1 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCA... | CACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCA... | pathogenic | 273,480 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 43091674, gene BRCA1. What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCT... | CAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCT... | pathogenic | 273,482 |
Mutation found at chromosome 17 position 43091677, 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'] | CCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACA... | CCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACA... | pathogenic | 273,484 |
Does the genetic variant at chromosome 17, position 43091678, impacting gene BRCA1, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | CTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAG... | CTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAG... | pathogenic | 273,485 |
Regarding the variant at chromosome 17 and position 43091680, affecting gene BRCA1: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTG... | CCGCCTCCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTG... | pathogenic | 273,487 |
The genetic variant at chromosome 17, position 43091686, affecting gene BRCA1: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCAT... | CCTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCAT... | pathogenic | 273,490 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43091687, gene BRCA1: what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATG... | CTGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATG... | pathogenic | 273,492 |
Gene mutation in BRCA1 at chromosome 17, position 43091688—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGA... | TGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGA... | pathogenic | 273,493 |
Variant on chromosome 17, at position 43091688, affecting BRCA1: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | TGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGA... | TGGGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGA... | pathogenic | 273,494 |
Variant on chromosome 17, at position 43091690, affecting BRCA1: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACT... | GGTTCAAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACT... | pathogenic | 273,496 |
Mutation found at chromosome 17 position 43091695, 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'] | AAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACT... | AAGTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACT... | pathogenic | 273,497 |
Evaluate if the mutation on chromosome 17 at position 43091697 in BRCA1 is 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', 'Malignant_tumor_of_breast'] | GTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTAC... | GTGATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTAC... | pathogenic | 273,499 |
Clinical significance of chromosome 17, position 43091700, gene BRCA1: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCC... | ATTCTCCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCC... | pathogenic | 273,500 |
Evaluate this variant at chromosome 17, position 43091705, gene BRCA1: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | CCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCC... | CCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCC... | pathogenic | 273,501 |
Regarding the variant found on chromosome 17 at position 43091705 in gene BRCA1: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCC... | CCTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCC... | pathogenic | 273,504 |
Chromosome 17, position 43091706, gene BRCA1: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCA... | CTGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCA... | pathogenic | 273,505 |
Gene BRCA1 variant at chromosome position 43091707 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_neoplasm'] | TGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAG... | TGCTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAG... | pathogenic | 273,506 |
Evaluate this variant at chromosome 17, position 43091709, gene BRCA1: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAGCC... | CTTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAGCC... | pathogenic | 273,509 |
Variant in BRCA1, chromosome 17, position 43091710—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAGCCT... | TTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAGCCT... | pathogenic | 273,510 |
Clinical significance of chromosome 17, position 43091710, gene BRCA1: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAGCCT... | TTTAGCCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAGCCT... | pathogenic | 273,511 |
Is the variant located on chromosome 17 at position 43091715, gene BRCA1, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAGCCTGGGTA... | CCTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAGCCTGGGTA... | pathogenic | 273,515 |
Clinical significance of chromosome 17, position 43091716, gene BRCA1: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAGCCTGGGTAA... | CTCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAGCCTGGGTAA... | pathogenic | 273,516 |
Variant in gene BRCA1, located at chromosome 17 position 43091717: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAGCCTGGGTAAC... | TCCCATCTTTCTTTTTTTTAAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAGCCTGGGTAAC... | pathogenic | 273,517 |
A mutation at chromosome position 43091736 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', 'Breast_carcinoma', 'Hereditary_breast_ovarian_cancer_syndrome'] | AAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAGCCTGGGTAACAGAGTAAGAGACCCTGTGT... | AAAGAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAGCCTGGGTAACAGAGTAAGAGACCCTGTGT... | pathogenic | 273,524 |
Is the genetic mutation found on chromosome 17 at position 43091739, within the gene BRCA1, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAGCCTGGGTAACAGAGTAAGAGACCCTGTGTCAA... | GAAAAAAGATGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAGCCTGGGTAACAGAGTAAGAGACCCTGTGTCAA... | pathogenic | 273,526 |
Clinical classification of chromosome 17, position 43091748, gene BRCA1: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAGCCTGGGTAACAGAGTAAGAGACCCTGTGTCAAAGAAACCAA... | TGATTTATGAGCAATTAAAAAAAAAATAGGCCAGGCGTGGTTGCACACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGATCACTTGAGCCCAGGATTTTGAGACCAGCCTGGGCAACATAGTGAGATGTTGTCTCTAGTAAAAACTTAAAAATTAGCTGGAGGTGTTGGTGGGCGCCTGTGGTCCCAGCTACTCGGGAAGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAAGTCAAAGCTACAGTGAACCATGACTGCACTACTCCATTCCAGCCTGGGTAACAGAGTAAGAGACCCTGTGTCAAAGAAACCAA... | pathogenic | 273,530 |
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