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 |
|---|---|---|---|---|---|
Determine whether the variant at chromosome 13, position 32337026, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGA... | TGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGA... | pathogenic | 209,433 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32337030, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCAC... | TGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCAC... | pathogenic | 209,434 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32337038—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | GGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGC... | GGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGC... | pathogenic | 209,438 |
Variant at chromosome 13, position 32337043, gene BRCA2 (BRCA2 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCC... | AAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCC... | pathogenic | 209,440 |
Clinical classification of chromosome 13, position 32337055, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGAC... | GAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGAC... | pathogenic | 209,444 |
Does the genetic variant at chromosome 13, position 32337056, impacting gene BRCA2 (BRCA2 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACA... | AAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACA... | pathogenic | 209,445 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32337065: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | GATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGAC... | GATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGAC... | pathogenic | 209,449 |
Determine whether the variant at chromosome 13, position 32337070, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCAT... | TATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCAT... | pathogenic | 209,450 |
Chromosome 13, position 32337070, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | TATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCAT... | TATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCAT... | pathogenic | 209,451 |
Chromosome 13, position 32337085, gene BRCA2 (BRCA2 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAA... | TAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAA... | pathogenic | 209,454 |
Variant at chromosome position 32337091, chromosome 13, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAA... | CAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAA... | pathogenic | 209,456 |
Is the chromosome 13, position 32337099 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATA... | AAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATA... | pathogenic | 209,459 |
Is the genetic mutation found on chromosome 13 at position 32337099, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATA... | AAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATA... | pathogenic | 209,460 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32337102: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACAT... | CTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACAT... | pathogenic | 209,461 |
Is the variant located on chromosome 13 at position 32337105, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTG... | ATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTG... | pathogenic | 209,463 |
A genetic variant on chromosome 13, position 32337108, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_neoplasm'] | TAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATC... | TAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATC... | pathogenic | 209,465 |
Does the variant on chromosome 13 at location 32337112 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTG... | CCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTG... | pathogenic | 209,469 |
Variant at chromosome 13, position 32337112, gene BRCA2 (BRCA2 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Hereditary_cancer-predisposing_syndrome'] | CCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTG... | CCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTG... | pathogenic | 209,470 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32337113—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | CAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGA... | CAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGA... | pathogenic | 209,471 |
Classify the chromosome 13 variant at position 32337116 affecting gene BRCA2 (BRCA2 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGA... | GCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGA... | pathogenic | 209,472 |
Variant at chromosome position 32337118, chromosome 13, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAA... | GCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAA... | pathogenic | 209,473 |
Variant on chromosome 13, at position 32337126, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | TCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTA... | TCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTA... | pathogenic | 209,474 |
A mutation at chromosome position 32337127 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | CACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAA... | CACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAA... | pathogenic | 209,475 |
Variant chromosome 13, position 32337129, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGA... | CGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGA... | pathogenic | 209,477 |
Is the genetic mutation found on chromosome 13 at position 32337129, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGA... | CGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGA... | pathogenic | 209,478 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32337134: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGG... | ATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGG... | pathogenic | 209,481 |
Mutation found at chromosome 13 position 32337137, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTA... | ATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTA... | pathogenic | 209,482 |
Is the genetic mutation found on chromosome 13 at position 32337137, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTA... | ATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTA... | pathogenic | 209,483 |
Clinical significance of chromosome 13, position 32337149, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCA... | TGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCA... | pathogenic | 209,488 |
Is the genetic mutation found on chromosome 13 at position 32337152, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAG... | GAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAG... | pathogenic | 209,489 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32337154—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | GGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGG... | GGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGG... | pathogenic | 209,491 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32337158—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAA... | AAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAA... | pathogenic | 209,494 |
A genetic alteration at chromosome 13, position 32337160, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGA... | GGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGA... | pathogenic | 209,496 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32337160, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGA... | GGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGA... | pathogenic | 209,497 |
Classify the chromosome 13 variant at position 32337160 affecting gene BRCA2 (BRCA2 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['BRCA2-related_cancer_predisposition', 'BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Breast_neoplasm', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_comp... | GGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGA... | GGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGA... | pathogenic | 209,498 |
Benign or pathogenic: chromosome 13, position 32337163, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAAT... | AGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAAT... | pathogenic | 209,499 |
Determine whether the variant at chromosome 13, position 32337164, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATT... | GGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATT... | pathogenic | 209,501 |
Is the genetic mutation found on chromosome 13 at position 32337177, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTT... | AGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTT... | pathogenic | 209,507 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32337180, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_neoplasm', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | TCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAA... | TCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAA... | pathogenic | 209,509 |
Variant at chromosome position 32337184, chromosome 13, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCA... | GAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCA... | pathogenic | 209,512 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32337184 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCA... | GAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCA... | pathogenic | 209,513 |
A genetic variant on chromosome 13, position 32337184, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCA... | GAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCA... | pathogenic | 209,514 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32337187—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTT... | TTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTT... | pathogenic | 209,516 |
Clinically, how would you classify the variant at chromosome 13, position 32337188, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTG... | TCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTG... | pathogenic | 209,517 |
Evaluate if the mutation on chromosome 13 at position 32337189 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'likely other unspecified diseases'] | CAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGC... | CAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGC... | pathogenic | 209,518 |
A genetic variant at chromosome 13, position 32337190, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCC... | AAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCC... | pathogenic | 209,519 |
Variant at chromosome position 32337192, chromosome 13, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTT... | GACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTT... | pathogenic | 209,520 |
Evaluate this variant at chromosome 13, position 32337195, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | CAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTAT... | CAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTAT... | pathogenic | 209,523 |
Chromosome 13, position 32337197, gene BRCA2 (BRCA2 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_neoplasm', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCG... | GCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCG... | pathogenic | 209,524 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32337212—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCAT... | TAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCAT... | pathogenic | 209,528 |
Evaluate if the mutation on chromosome 13 at position 32337220 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGG... | CATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGG... | pathogenic | 209,531 |
Is the genetic mutation found on chromosome 13 at position 32337220, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGG... | CATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGG... | pathogenic | 209,533 |
Does the variant on chromosome 13 at location 32337234 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | AAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGG... | AAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGG... | pathogenic | 209,537 |
Chromosome 13, position 32337239, gene BRCA2 (BRCA2 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | AAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCT... | AAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCT... | pathogenic | 209,541 |
Evaluate if the mutation on chromosome 13 at position 32337239 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | AAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCT... | AAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCT... | pathogenic | 209,543 |
Is the genetic change at chromosome 13, position 32337240, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | AAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTG... | AAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTG... | pathogenic | 209,544 |
A genetic variant at chromosome 13, position 32337243, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTT... | ATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTT... | pathogenic | 209,546 |
A genetic variant on chromosome 13, position 32337250, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAA... | AGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAA... | pathogenic | 209,548 |
Does the variant on chromosome 13 at location 32337251 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAAT... | GATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAAT... | pathogenic | 209,549 |
Variant at chromosome 13, position 32337283, gene BRCA2 (BRCA2 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | CTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATT... | CTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATT... | pathogenic | 209,561 |
Classify the chromosome 13 variant at position 32337299 affecting gene BRCA2 (BRCA2 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTT... | AGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTT... | pathogenic | 209,565 |
Clinically, how would you classify the variant at chromosome 13, position 32337305, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Ma... | ATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAA... | ATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAA... | pathogenic | 209,568 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32337305, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAA... | ATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAA... | pathogenic | 209,570 |
Clinical significance of chromosome 13, position 32337305, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAA... | ATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAA... | pathogenic | 209,571 |
Clinically, how would you classify the variant at chromosome 13, position 32337311, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTT... | TGAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTT... | pathogenic | 209,572 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32337312—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | GAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTT... | GAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTT... | pathogenic | 209,573 |
Is the genetic mutation found on chromosome 13 at position 32337312, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | GAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTT... | GAACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTT... | pathogenic | 209,574 |
Chromosome 13, position 32337313, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTT... | AACCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTT... | pathogenic | 209,575 |
Variant chromosome 13, position 32337315, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCT... | CCTGGGAGATGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCT... | pathogenic | 209,577 |
Is the genetic variant on chromosome 13, position 32337324, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGC... | TGGAGGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGC... | pathogenic | 209,578 |
Clinically, how would you classify the variant at chromosome 13, position 32337328, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma', 'Pancreatic_canc... | GGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTT... | GGTTGCAATGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTT... | pathogenic | 209,580 |
Variant chromosome 13, position 32337342, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGT... | GAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGT... | pathogenic | 209,585 |
Considering the variant on chromosome 13, location 32337353, involving gene BRCA2 (BRCA2 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | ACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAA... | ACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAA... | pathogenic | 209,593 |
Does the variant on chromosome 13 at location 32337361 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTT... | CCAGCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTT... | pathogenic | 209,597 |
Regarding the variant found on chromosome 13 at position 32337364 in gene BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTT... | GCCTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTT... | pathogenic | 209,598 |
Clinical significance of chromosome 13, position 32337366, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | CTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCA... | CTGGGTGACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCA... | pathogenic | 209,599 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32337372 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTA... | GACAGAACGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTA... | pathogenic | 209,601 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32337386, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAA... | CCATCTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAA... | pathogenic | 209,604 |
The chromosome 13, position 32337390 genetic variant in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTAC... | CTCAAAAAAAAAAAAAAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTAC... | pathogenic | 209,605 |
A mutation at chromosome position 32337405 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTA... | AAAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTA... | pathogenic | 209,610 |
Regarding the variant at chromosome 13 and position 32337406, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | AAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTAT... | AAAAAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTAT... | pathogenic | 209,611 |
Is the genetic mutation found on chromosome 13 at position 32337409, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGT... | AAAGCTAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGT... | pathogenic | 209,614 |
Variant chromosome 13, position 32337414, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTA... | TAATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTA... | pathogenic | 209,617 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32337416, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGC... | ATACATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGC... | pathogenic | 209,619 |
Evaluate this variant at chromosome 13, position 32337420, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACT... | ATGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACT... | pathogenic | 209,621 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32337421, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTT... | TGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTT... | pathogenic | 209,623 |
The chromosome 13, position 32337421 genetic variant in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTT... | TGTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTT... | pathogenic | 209,624 |
Chromosome 13, position 32337422, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTC... | GTGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTC... | pathogenic | 209,625 |
Considering the genetic mutation at chromosome 13, position 32337423, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCC... | TGATCACTGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCC... | pathogenic | 209,626 |
Determine whether the variant at chromosome 13, position 32337430, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCT... | TGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCT... | pathogenic | 209,629 |
Clinically, how would you classify the variant at chromosome 13, position 32337430, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCT... | TGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCT... | pathogenic | 209,630 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32337430, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCT... | TGATGAAATGCAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCT... | pathogenic | 209,631 |
A genetic variant at chromosome 13, position 32337440, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | CAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAAT... | CAATTAAGAACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAAT... | pathogenic | 209,635 |
A genetic alteration at chromosome 13, position 32337448, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | AACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTG... | AACTGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTG... | pathogenic | 209,636 |
Clinical classification of chromosome 13, position 32337451, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGT... | TGGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGT... | pathogenic | 209,638 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32337452: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTT... | GGTTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTT... | pathogenic | 209,639 |
Assess the variant on chromosome 13, position 32337454, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGG... | TTAGTAGAAAATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGG... | pathogenic | 209,640 |
Is chromosome 13, position 32337464, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTAT... | ATTCAGAGGGTCAAGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTAT... | pathogenic | 209,644 |
Does the variant on chromosome 13 at location 32337477 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['BRCA2-related_cancer_predisposition', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACT... | AGAAATTTAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACT... | pathogenic | 209,647 |
Is the genetic mutation found on chromosome 13 at position 32337484, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | TAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCT... | TAACAGAGCAGTTGAACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCT... | pathogenic | 209,649 |
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