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 |
|---|---|---|---|---|---|
Mutation at chromosome 13, position 32394790, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACT... | GTTAATAGTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACT... | pathogenic | 213,683 |
Variant at chromosome 13, position 32394797, 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'] | GTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGA... | GTGGTATAATTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGA... | pathogenic | 213,685 |
Is the genetic variant on chromosome 13, position 32394806, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTC... | TTATTACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTC... | pathogenic | 213,688 |
Mutation at chromosome 13, position 32394811, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCT... | ACCCATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCT... | pathogenic | 213,693 |
A genetic variant on chromosome 13, position 32394814, 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'] | CATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAG... | CATACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAG... | pathogenic | 213,696 |
Regarding the variant found on chromosome 13 at position 32394816 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'] | TACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTA... | TACTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTA... | pathogenic | 213,698 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32394818: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACA... | CTGTAGATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACA... | pathogenic | 213,699 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32394823 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'] | GATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATA... | GATGTATTTGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATA... | pathogenic | 213,701 |
Considering the variant on chromosome 13, location 32394831, 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; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_neoplasm', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGG... | TGAAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGG... | pathogenic | 213,706 |
Benign or pathogenic: chromosome 13, position 32394833, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast', 'Malignant_tumor_of_prostate', 'Me... | AAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTT... | AAAAATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTT... | pathogenic | 213,707 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32394837—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', 'Hereditary_cancer-predisposing_syndrome'] | ATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATG... | ATTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATG... | pathogenic | 213,710 |
Clinical classification of chromosome 13, position 32394838, 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'] | TTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGA... | TTGTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGA... | pathogenic | 213,711 |
Clinical significance of chromosome 13, position 32394840, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | GTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATA... | GTTTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATA... | pathogenic | 213,713 |
Regarding the variant at chromosome 13 and position 32394842, 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', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | TTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACT... | TTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACT... | pathogenic | 213,714 |
Benign or pathogenic: chromosome 13, position 32394842, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['BRCA2-related_disorder', 'Familial_cancer_of_breast'] | TTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACT... | TTGAGTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACT... | pathogenic | 213,715 |
Is the variant located on chromosome 13 at position 32394846, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATC... | GTTTAAGGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATC... | pathogenic | 213,719 |
Does the variant on chromosome 13 at location 32394852 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | GGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATC... | GGTATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATC... | pathogenic | 213,720 |
Chromosome 13, position 32394854, 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'] | TATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCAC... | TATTTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCAC... | pathogenic | 213,721 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32394857 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', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTG... | TTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTG... | pathogenic | 213,723 |
A genetic variant at chromosome 13, position 32394857, 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'] | TTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTG... | TTTACCCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTG... | pathogenic | 213,724 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32394862, 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', 'Malignant_tumor_of_breast'] | CCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAA... | CCTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAA... | pathogenic | 213,726 |
Assess the variant on chromosome 13, position 32394863, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_sy... | CTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAG... | CTGTTTCCCCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAG... | pathogenic | 213,727 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32394871—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAAT... | CCTTTTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAAT... | pathogenic | 213,730 |
Does the genetic variant at chromosome 13, position 32394875, impacting gene BRCA2 (BRCA2 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAATCTGC... | TTTTGTTCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAATCTGC... | pathogenic | 213,731 |
Is the variant located on chromosome 13 at position 32394881, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAATCTGCTGGGTT... | TCTGGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAATCTGCTGGGTT... | pathogenic | 213,733 |
A genetic variant at chromosome 13, position 32394884, 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', 'Hereditary_breast_ovarian_cancer_syndrome'] | GGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAATCTGCTGGGTTTCT... | GGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAATCTGCTGGGTTTCT... | pathogenic | 213,734 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32394884, classify as 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'] | GGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAATCTGCTGGGTTTCT... | GGGATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAATCTGCTGGGTTTCT... | pathogenic | 213,735 |
Considering the genetic mutation at chromosome 13, position 32394887, 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', '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... | ATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAATCTGCTGGGTTTCTCCT... | ATCCCAAATTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAATCTGCTGGGTTTCTCCT... | pathogenic | 213,737 |
Is the genetic variant on chromosome 13, position 32394895, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAATCTGCTGGGTTTCTCCTCTGTACAA... | TTGCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAATCTGCTGGGTTTCTCCTCTGTACAA... | pathogenic | 213,738 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32394897: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAATCTGCTGGGTTTCTCCTCTGTACAATA... | GCATTTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAATCTGCTGGGTTTCTCCTCTGTACAATA... | pathogenic | 213,739 |
The chromosome 13, position 32394901 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'] | TTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAATCTGCTGGGTTTCTCCTCTGTACAATAACTT... | TTAGTCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAATCTGCTGGGTTTCTCCTCTGTACAATAACTT... | pathogenic | 213,742 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32394905, 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'] | TCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAATCTGCTGGGTTTCTCCTCTGTACAATAACTTCCTT... | TCATTTTTCCCCTGTATTTTCTACCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAATCTGCTGGGTTTCTCCTCTGTACAATAACTTCCTT... | pathogenic | 213,744 |
Evaluate this variant at chromosome 13, position 32394928, 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'] | CCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAATCTGCTGGGTTTCTCCTCTGTACAATAACTTCCTTTTTCTTTGTAGTTAATAAATATC... | CCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAATCTGCTGGGTTTCTCCTCTGTACAATAACTTCCTTTTTCTTTGTAGTTAATAAATATC... | pathogenic | 213,747 |
A genetic alteration at chromosome 13, position 32394928, 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', 'Hereditary_cancer-predisposing_syndrome'] | CCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAATCTGCTGGGTTTCTCCTCTGTACAATAACTTCCTTTTTCTTTGTAGTTAATAAATATC... | CCAGTCTTTAATACTTCCTGTCTTCTTTTTCATGATCATTATGCTTTTGAATAGACTGATAATGATCATTATGTTTTTGAATAGACTGATCAATTATTTTGTAGCATTCCCCTCAATTTGAGTTCGTCTGATGTTTTCTCATGACTAGGATGAAGTTATGCATTTCTGGCAAGACTACCACTGAAGTGATGATGTGTCTTTCTCAGTACATCATATCAAGGGGTTAATGATACTGATCTTAATCACTTGATTAAGGTGATAATCTGCTGGGTTTCTCCTCTGTACAATAACTTCCTTTTTCTTTGTAGTTAATAAATATC... | pathogenic | 213,748 |
Chromosome 13, position 32396901, 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'] | GGAGATTTTTCTGTGTTTTCTGCTAGTCCAAAAGAGGGCCACTTTCAAGAGACATTCAACAAAATGAAAAATACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTC... | GGAGATTTTTCTGTGTTTTCTGCTAGTCCAAAAGAGGGCCACTTTCAAGAGACATTCAACAAAATGAAAAATACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTC... | pathogenic | 213,772 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32396907: 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'] | TTTTCTGTGTTTTCTGCTAGTCCAAAAGAGGGCCACTTTCAAGAGACATTCAACAAAATGAAAAATACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAAT... | TTTTCTGTGTTTTCTGCTAGTCCAAAAGAGGGCCACTTTCAAGAGACATTCAACAAAATGAAAAATACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAAT... | pathogenic | 213,775 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32396911, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CTGTGTTTTCTGCTAGTCCAAAAGAGGGCCACTTTCAAGAGACATTCAACAAAATGAAAAATACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAG... | CTGTGTTTTCTGCTAGTCCAAAAGAGGGCCACTTTCAAGAGACATTCAACAAAATGAAAAATACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAG... | pathogenic | 213,776 |
Clinical classification of chromosome 13, position 32396918, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TTCTGCTAGTCCAAAAGAGGGCCACTTTCAAGAGACATTCAACAAAATGAAAAATACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGT... | TTCTGCTAGTCCAAAAGAGGGCCACTTTCAAGAGACATTCAACAAAATGAAAAATACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGT... | pathogenic | 213,778 |
Is the variant located on chromosome 13 at position 32396929, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAAAAGAGGGCCACTTTCAAGAGACATTCAACAAAATGAAAAATACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGG... | CAAAAGAGGGCCACTTTCAAGAGACATTCAACAAAATGAAAAATACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGG... | pathogenic | 213,780 |
Chromosome 13, position 32396932, 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'] | AAGAGGGCCACTTTCAAGAGACATTCAACAAAATGAAAAATACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGGAAA... | AAGAGGGCCACTTTCAAGAGACATTCAACAAAATGAAAAATACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGGAAA... | pathogenic | 213,782 |
Is the genetic change at chromosome 13, position 32396932, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AAGAGGGCCACTTTCAAGAGACATTCAACAAAATGAAAAATACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGGAAA... | AAGAGGGCCACTTTCAAGAGACATTCAACAAAATGAAAAATACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGGAAA... | pathogenic | 213,783 |
Is the genetic variant on chromosome 13, position 32396936, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GGGCCACTTTCAAGAGACATTCAACAAAATGAAAAATACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGGAAATTGG... | GGGCCACTTTCAAGAGACATTCAACAAAATGAAAAATACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGGAAATTGG... | pathogenic | 213,787 |
A genetic variant at chromosome 13, position 32396944, 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'] | TTCAAGAGACATTCAACAAAATGAAAAATACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGGAAATTGGTTACAAGA... | TTCAAGAGACATTCAACAAAATGAAAAATACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGGAAATTGGTTACAAGA... | pathogenic | 213,789 |
Considering the genetic mutation at chromosome 13, position 32396973, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | ACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGGAAATTGGTTACAAGAATAATATGAGTTATCTGTGGTTTGCAGCA... | ACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGGAAATTGGTTACAAGAATAATATGAGTTATCTGTGGTTTGCAGCA... | pathogenic | 213,796 |
Benign or pathogenic: chromosome 13, position 32396973, gene BRCA2 (BRCA2 DNA repair associated) variant? 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'] | ACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGGAAATTGGTTACAAGAATAATATGAGTTATCTGTGGTTTGCAGCA... | ACTGTTGAGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGGAAATTGGTTACAAGAATAATATGAGTTATCTGTGGTTTGCAGCA... | pathogenic | 213,797 |
Mutation at chromosome 13, position 32396980, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGGAAATTGGTTACAAGAATAATATGAGTTATCTGTGGTTTGCAGCAGTCAGCA... | AGGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGGAAATTGGTTACAAGAATAATATGAGTTATCTGTGGTTTGCAGCAGTCAGCA... | pathogenic | 213,800 |
Variant at chromosome 13, position 32396981, 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'] | GGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGGAAATTGGTTACAAGAATAATATGAGTTATCTGTGGTTTGCAGCAGTCAGCAG... | GGTAAGGTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGGAAATTGGTTACAAGAATAATATGAGTTATCTGTGGTTTGCAGCAGTCAGCAG... | pathogenic | 213,801 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32396987—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['BRCA2-related_disorder', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGGAAATTGGTTACAAGAATAATATGAGTTATCTGTGGTTTGCAGCAGTCAGCAGTGTGAT... | GTTACTTTTCAGCATCACCACACATTTTGGTATTTTTCTATTTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGGAAATTGGTTACAAGAATAATATGAGTTATCTGTGGTTTGCAGCAGTCAGCAGTGTGAT... | pathogenic | 213,802 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32397028, classify as 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'] | TTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGGAAATTGGTTACAAGAATAATATGAGTTATCTGTGGTTTGCAGCAGTCAGCAGTGTGATTAGTTAATAATATAGAGACTACAGGTTTACATTTAAACTCC... | TTTGACAGTCCAGTATCAAGGAAATAGCTTTTATACAAATTGGATAGTTGAGGTAGTATGTGAGGTAAAGTTTAATCATATATTAATTGCCCATGAACCTCAGGAGATGGGGGAATGGGGAAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGGAAATTGGTTACAAGAATAATATGAGTTATCTGTGGTTTGCAGCAGTCAGCAGTGTGATTAGTTAATAATATAGAGACTACAGGTTTACATTTAAACTCC... | pathogenic | 213,811 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32397148—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | AAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGGAAATTGGTTACAAGAATAATATGAGTTATCTGTGGTTTGCAGCAGTCAGCAGTGTGATTAGTTAATAATATAGAGACTACAGGTTTACATTTAAACTCCATATCTAGTGTTTTATACAGATTATATTTCTTTGACTTGATTTAATCCCAGATAAGAGACACTGATATTATTTTCCCTAGATCATGTATGCATTTTCTGCTTAAATCTATATATACATTA... | AAATGACAGCAACTAGAAAGAGAAGAATGACTTGAAGGGAAATGAGTTAGGAGAAATTGTGAGAAGGATGTTCAGAAATGCAGACTTTGTAAGCAAACTGGAAATTGGTTACAAGAATAATATGAGTTATCTGTGGTTTGCAGCAGTCAGCAGTGTGATTAGTTAATAATATAGAGACTACAGGTTTACATTTAAACTCCATATCTAGTGTTTTATACAGATTATATTTCTTTGACTTGATTTAATCCCAGATAAGAGACACTGATATTATTTTCCCTAGATCATGTATGCATTTTCTGCTTAAATCTATATATACATTA... | benign | 213,822 |
Is the variant located on chromosome 13 at position 32397569, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TTTCTATTTTATCAGTGAGAAACAGGTTAAATGGCTTGCCTTAGGTCAAATGCCAAGTTAGTAAAACTAGGATTCATACTTAGGCCATCGAATGCAGAACCCAGACTAGGAACTGCTATGCAATGCTGCTTCCCAGTAAAATTTGAGATTTCATGAGTTGGTAACTAGTGAAGAATACACAAAAAATAAGCCTCTTAATTCTGTAGTTTAATATTTGAAATGTGTGTTATTCAGAATTTATATAAAAATATATTTTAAAAGCATTAGAGTAGCTGTATAAAGAAAGCTGTGTTGACATTTTACCTAGAGACTCTATGCAT... | TTTCTATTTTATCAGTGAGAAACAGGTTAAATGGCTTGCCTTAGGTCAAATGCCAAGTTAGTAAAACTAGGATTCATACTTAGGCCATCGAATGCAGAACCCAGACTAGGAACTGCTATGCAATGCTGCTTCCCAGTAAAATTTGAGATTTCATGAGTTGGTAACTAGTGAAGAATACACAAAAAATAAGCCTCTTAATTCTGTAGTTTAATATTTGAAATGTGTGTTATTCAGAATTTATATAAAAATATATTTTAAAAGCATTAGAGTAGCTGTATAAAGAAAGCTGTGTTGACATTTTACCTAGAGACTCTATGCAT... | benign | 213,825 |
Variant chromosome 13, position 32397569, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | benign | TTTCTATTTTATCAGTGAGAAACAGGTTAAATGGCTTGCCTTAGGTCAAATGCCAAGTTAGTAAAACTAGGATTCATACTTAGGCCATCGAATGCAGAACCCAGACTAGGAACTGCTATGCAATGCTGCTTCCCAGTAAAATTTGAGATTTCATGAGTTGGTAACTAGTGAAGAATACACAAAAAATAAGCCTCTTAATTCTGTAGTTTAATATTTGAAATGTGTGTTATTCAGAATTTATATAAAAATATATTTTAAAAGCATTAGAGTAGCTGTATAAAGAAAGCTGTGTTGACATTTTACCTAGAGACTCTATGCAT... | TTTCTATTTTATCAGTGAGAAACAGGTTAAATGGCTTGCCTTAGGTCAAATGCCAAGTTAGTAAAACTAGGATTCATACTTAGGCCATCGAATGCAGAACCCAGACTAGGAACTGCTATGCAATGCTGCTTCCCAGTAAAATTTGAGATTTCATGAGTTGGTAACTAGTGAAGAATACACAAAAAATAAGCCTCTTAATTCTGTAGTTTAATATTTGAAATGTGTGTTATTCAGAATTTATATAAAAATATATTTTAAAAGCATTAGAGTAGCTGTATAAAGAAAGCTGTGTTGACATTTTACCTAGAGACTCTATGCAT... | benign | 213,826 |
Assess the variant on chromosome 13, position 32397940, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | ATTCATTATTTAGTTCCCATACAGCATATCTACTGTTTACACCCCACATTTTCTTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAGACAGAGTCTTGCTTTGTCACCCCCAGGCTGGAGTACAATAGCACAATCTCGGATCACTGCAGTGTCTGCCTCCTGGGCTCAAGCGATTCTCGTGCCTTAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACATGGTTTCACCATGTTGGGCAGTCTGGTCTCGAACTCTTGGCCTCAAGT... | ATTCATTATTTAGTTCCCATACAGCATATCTACTGTTTACACCCCACATTTTCTTTTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAGACAGAGTCTTGCTTTGTCACCCCCAGGCTGGAGTACAATAGCACAATCTCGGATCACTGCAGTGTCTGCCTCCTGGGCTCAAGCGATTCTCGTGCCTTAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACATGGTTTCACCATGTTGGGCAGTCTGGTCTCGAACTCTTGGCCTCAAGT... | benign | 213,829 |
Assess the variant on chromosome 13, position 32398143, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TCCCAAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACATGGTTTCACCATGTTGGGCAGTCTGGTCTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTG... | TCCCAAGTAGCTGGGACTACAGGTGCGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACATGGTTTCACCATGTTGGGCAGTCTGGTCTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTG... | benign | 213,833 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32398178: benign or pathogenic? Name the associated disease(s) if pathogenic. | 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', 'Ovarian_neoplasm'] | CGCCCAGCTAATTTTTGTATTTTTAGTAGAGACATGGTTTCACCATGTTGGGCAGTCTGGTCTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTA... | CGCCCAGCTAATTTTTGTATTTTTAGTAGAGACATGGTTTCACCATGTTGGGCAGTCTGGTCTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTA... | pathogenic | 213,840 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32398184: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['BRCA2-related_cancer_predisposition', 'BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_D1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breas... | GCTAATTTTTGTATTTTTAGTAGAGACATGGTTTCACCATGTTGGGCAGTCTGGTCTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATC... | GCTAATTTTTGTATTTTTAGTAGAGACATGGTTTCACCATGTTGGGCAGTCTGGTCTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATC... | pathogenic | 213,842 |
Chromosome 13, position 32398184, 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', 'Hereditary_cancer-predisposing_syndrome'] | GCTAATTTTTGTATTTTTAGTAGAGACATGGTTTCACCATGTTGGGCAGTCTGGTCTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATC... | GCTAATTTTTGTATTTTTAGTAGAGACATGGTTTCACCATGTTGGGCAGTCTGGTCTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATC... | pathogenic | 213,843 |
Evaluate if the mutation on chromosome 13 at position 32398186 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TAATTTTTGTATTTTTAGTAGAGACATGGTTTCACCATGTTGGGCAGTCTGGTCTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCAT... | TAATTTTTGTATTTTTAGTAGAGACATGGTTTCACCATGTTGGGCAGTCTGGTCTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCAT... | pathogenic | 213,844 |
Is the chromosome 13, position 32398187 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AATTTTTGTATTTTTAGTAGAGACATGGTTTCACCATGTTGGGCAGTCTGGTCTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATT... | AATTTTTGTATTTTTAGTAGAGACATGGTTTCACCATGTTGGGCAGTCTGGTCTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATT... | pathogenic | 213,845 |
Mutation found at chromosome 13 position 32398192, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_carcinoma', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGTATTTTTAGTAGAGACATGGTTTCACCATGTTGGGCAGTCTGGTCTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAAT... | TTGTATTTTTAGTAGAGACATGGTTTCACCATGTTGGGCAGTCTGGTCTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAAT... | pathogenic | 213,847 |
Located at chromosome 13 position 32398199, the variant affecting gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(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'] | TTTAGTAGAGACATGGTTTCACCATGTTGGGCAGTCTGGTCTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCT... | TTTAGTAGAGACATGGTTTCACCATGTTGGGCAGTCTGGTCTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCT... | pathogenic | 213,848 |
Is chromosome 13, position 32398209, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['BRCA2-related_cancer_predisposition', 'BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Genetic_non-acquired_premature_ovarian_failure', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_o... | ACATGGTTTCACCATGTTGGGCAGTCTGGTCTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGAC... | ACATGGTTTCACCATGTTGGGCAGTCTGGTCTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGAC... | pathogenic | 213,852 |
Is the genetic change at chromosome 13, position 32398217, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TCACCATGTTGGGCAGTCTGGTCTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTA... | TCACCATGTTGGGCAGTCTGGTCTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTA... | pathogenic | 213,855 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32398229 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GCAGTCTGGTCTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATT... | GCAGTCTGGTCTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATT... | pathogenic | 213,859 |
Chromosome 13, position 32398239, 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'] | CTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTC... | CTCGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTC... | pathogenic | 213,862 |
Is the genetic variant on chromosome 13, position 32398241, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | CGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTC... | CGAACTCTTGGCCTCAAGTGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTC... | pathogenic | 213,863 |
A genetic variant at chromosome 13, position 32398259, 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'] | TGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTT... | TGATCTGCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTT... | pathogenic | 213,871 |
Does the chromosome 13 mutation at position 32398265 within gene BRCA2 (BRCA2 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_neoplasm'] | GCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGA... | GCCCACCTTGGCCTCCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGA... | pathogenic | 213,874 |
Variant at chromosome position 32398279, 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'] | CCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCC... | CCCCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCC... | pathogenic | 213,876 |
For chromosome 13, position 32398281, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCA... | CCAAGTACTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCA... | pathogenic | 213,877 |
Clinical significance of chromosome 13, position 32398288, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTA... | CTGGGTTTACAGGCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTA... | pathogenic | 213,880 |
Clinical significance of chromosome 13, position 32398300, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTAAGTAGTAAATAG... | GCATGAGCCACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTAAGTAGTAAATAG... | pathogenic | 213,884 |
Mutation found at chromosome 13 position 32398308, 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'] | CACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTAAGTAGTAAATAGAGCTAGGA... | CACCGAGCCCGCATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTAAGTAGTAAATAGAGCTAGGA... | pathogenic | 213,886 |
Does the chromosome 13 mutation at position 32398320 within gene BRCA2 (BRCA2 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTAAGTAGTAAATAGAGCTAGGACTTGAGCCCCAA... | ATTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTAAGTAGTAAATAGAGCTAGGACTTGAGCCCCAA... | pathogenic | 213,889 |
Is chromosome 13, position 32398321, 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'] | TTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTAAGTAGTAAATAGAGCTAGGACTTGAGCCCCAAT... | TTTTCTCTGAGACGTCTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTAAGTAGTAAATAGAGCTAGGACTTGAGCCCCAAT... | pathogenic | 213,890 |
Variant at chromosome position 32398336, 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'] | CTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTAAGTAGTAAATAGAGCTAGGACTTGAGCCCCAATCTTCCAGCTTCAATC... | CTTCAAAGGCAGTTTACTAATCCTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTAAGTAGTAAATAGAGCTAGGACTTGAGCCCCAATCTTCCAGCTTCAATC... | pathogenic | 213,893 |
Clinically, how would you classify the variant at chromosome 13, position 32398358, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTAAGTAGTAAATAGAGCTAGGACTTGAGCCCCAATCTTCCAGCTTCAATCCAGATCATATGACAGCTTGCTG... | CTGCTGAAGAGACAACTGTCATTTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTAAGTAGTAAATAGAGCTAGGACTTGAGCCCCAATCTTCCAGCTTCAATCCAGATCATATGACAGCTTGCTG... | pathogenic | 213,900 |
A mutation at chromosome position 32398380 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'] | TTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTAAGTAGTAAATAGAGCTAGGACTTGAGCCCCAATCTTCCAGCTTCAATCCAGATCATATGACAGCTTGCTGATTAAACTAGATGACAGAGAAG... | TTACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTAAGTAGTAAATAGAGCTAGGACTTGAGCCCCAATCTTCCAGCTTCAATCCAGATCATATGACAGCTTGCTGATTAAACTAGATGACAGAGAAG... | pathogenic | 213,904 |
Is the chromosome 13, position 32398381 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTAAGTAGTAAATAGAGCTAGGACTTGAGCCCCAATCTTCCAGCTTCAATCCAGATCATATGACAGCTTGCTGATTAAACTAGATGACAGAGAAGA... | TACACAGCATTTTAAAGTTTTACAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTAAGTAGTAAATAGAGCTAGGACTTGAGCCCCAATCTTCCAGCTTCAATCCAGATCATATGACAGCTTGCTGATTAAACTAGATGACAGAGAAGA... | pathogenic | 213,905 |
Is the genetic variant on chromosome 13, position 32398403, 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', 'Fanconi_anemia_complementation_group_D1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTAAGTAGTAAATAGAGCTAGGACTTGAGCCCCAATCTTCCAGCTTCAATCCAGATCATATGACAGCTTGCTGATTAAACTAGATGACAGAGAAGATCTCTTTCCTTCAGATACACAT... | CAAAATACTGTCATGAATTAGGTTAAACCATATGAAATTGCTGATATTTGACCAGTTGTGATTTCTCAAGCAACAGTTTCATGTAGTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTAAGTAGTAAATAGAGCTAGGACTTGAGCCCCAATCTTCCAGCTTCAATCCAGATCATATGACAGCTTGCTGATTAAACTAGATGACAGAGAAGATCTCTTTCCTTCAGATACACAT... | pathogenic | 213,912 |
Determine whether the variant at chromosome 13, position 32398488, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTAAGTAGTAAATAGAGCTAGGACTTGAGCCCCAATCTTCCAGCTTCAATCCAGATCATATGACAGCTTGCTGATTAAACTAGATGACAGAGAAGATCTCTTTCCTTCAGATACACATACTTTTTCTCTGTTCCCCTCTCCCTATCAGCTAGATTCCCCTAAATCACTGATACTGGTTTTGTAATTTTGCATCGGCATGTTTG... | GTTTAACCTATAAATCATTTCAATTAATTCTTGGAACAGACGTGAGGTAGGTGAGGCAATTCTTTCTTTTCTCTAACCAAAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTAAGTAGTAAATAGAGCTAGGACTTGAGCCCCAATCTTCCAGCTTCAATCCAGATCATATGACAGCTTGCTGATTAAACTAGATGACAGAGAAGATCTCTTTCCTTCAGATACACATACTTTTTCTCTGTTCCCCTCTCCCTATCAGCTAGATTCCCCTAAATCACTGATACTGGTTTTGTAATTTTGCATCGGCATGTTTG... | benign | 213,930 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32398567: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | AAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTAAGTAGTAAATAGAGCTAGGACTTGAGCCCCAATCTTCCAGCTTCAATCCAGATCATATGACAGCTTGCTGATTAAACTAGATGACAGAGAAGATCTCTTTCCTTCAGATACACATACTTTTTCTCTGTTCCCCTCTCCCTATCAGCTAGATTCCCCTAAATCACTGATACTGGTTTTGTAATTTTGCATCGGCATGTTTGACAATTGGTATCACATTTAGGGTTTTTCATTCTTTTTTGGTCCAAACTTTTCATTTCTGCTTTTAAAGGAAATACTTTT... | AAGAAGTACCTTTATAGATGTGAGATGATTCCCAGCTATTAAGTAGTAAATAGAGCTAGGACTTGAGCCCCAATCTTCCAGCTTCAATCCAGATCATATGACAGCTTGCTGATTAAACTAGATGACAGAGAAGATCTCTTTCCTTCAGATACACATACTTTTTCTCTGTTCCCCTCTCCCTATCAGCTAGATTCCCCTAAATCACTGATACTGGTTTTGTAATTTTGCATCGGCATGTTTGACAATTGGTATCACATTTAGGGTTTTTCATTCTTTTTTGGTCCAAACTTTTCATTTCTGCTTTTAAAGGAAATACTTTT... | benign | 213,945 |
Is the genetic mutation found on chromosome 13 at position 32398590, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GATGATTCCCAGCTATTAAGTAGTAAATAGAGCTAGGACTTGAGCCCCAATCTTCCAGCTTCAATCCAGATCATATGACAGCTTGCTGATTAAACTAGATGACAGAGAAGATCTCTTTCCTTCAGATACACATACTTTTTCTCTGTTCCCCTCTCCCTATCAGCTAGATTCCCCTAAATCACTGATACTGGTTTTGTAATTTTGCATCGGCATGTTTGACAATTGGTATCACATTTAGGGTTTTTCATTCTTTTTTGGTCCAAACTTTTCATTTCTGCTTTTAAAGGAAATACTTTTGGAAACATAAATATGTGGGTTTG... | GATGATTCCCAGCTATTAAGTAGTAAATAGAGCTAGGACTTGAGCCCCAATCTTCCAGCTTCAATCCAGATCATATGACAGCTTGCTGATTAAACTAGATGACAGAGAAGATCTCTTTCCTTCAGATACACATACTTTTTCTCTGTTCCCCTCTCCCTATCAGCTAGATTCCCCTAAATCACTGATACTGGTTTTGTAATTTTGCATCGGCATGTTTGACAATTGGTATCACATTTAGGGTTTTTCATTCTTTTTTGGTCCAAACTTTTCATTTCTGCTTTTAAAGGAAATACTTTTGGAAACATAAATATGTGGGTTTG... | benign | 213,952 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32398606, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TAAGTAGTAAATAGAGCTAGGACTTGAGCCCCAATCTTCCAGCTTCAATCCAGATCATATGACAGCTTGCTGATTAAACTAGATGACAGAGAAGATCTCTTTCCTTCAGATACACATACTTTTTCTCTGTTCCCCTCTCCCTATCAGCTAGATTCCCCTAAATCACTGATACTGGTTTTGTAATTTTGCATCGGCATGTTTGACAATTGGTATCACATTTAGGGTTTTTCATTCTTTTTTGGTCCAAACTTTTCATTTCTGCTTTTAAAGGAAATACTTTTGGAAACATAAATATGTGGGTTTGCAATTTATAAAGCAGC... | TAAGTAGTAAATAGAGCTAGGACTTGAGCCCCAATCTTCCAGCTTCAATCCAGATCATATGACAGCTTGCTGATTAAACTAGATGACAGAGAAGATCTCTTTCCTTCAGATACACATACTTTTTCTCTGTTCCCCTCTCCCTATCAGCTAGATTCCCCTAAATCACTGATACTGGTTTTGTAATTTTGCATCGGCATGTTTGACAATTGGTATCACATTTAGGGTTTTTCATTCTTTTTTGGTCCAAACTTTTCATTTCTGCTTTTAAAGGAAATACTTTTGGAAACATAAATATGTGGGTTTGCAATTTATAAAGCAGC... | benign | 213,956 |
Mutation at chromosome 13, position 32398607, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AAGTAGTAAATAGAGCTAGGACTTGAGCCCCAATCTTCCAGCTTCAATCCAGATCATATGACAGCTTGCTGATTAAACTAGATGACAGAGAAGATCTCTTTCCTTCAGATACACATACTTTTTCTCTGTTCCCCTCTCCCTATCAGCTAGATTCCCCTAAATCACTGATACTGGTTTTGTAATTTTGCATCGGCATGTTTGACAATTGGTATCACATTTAGGGTTTTTCATTCTTTTTTGGTCCAAACTTTTCATTTCTGCTTTTAAAGGAAATACTTTTGGAAACATAAATATGTGGGTTTGCAATTTATAAAGCAGCT... | AAGTAGTAAATAGAGCTAGGACTTGAGCCCCAATCTTCCAGCTTCAATCCAGATCATATGACAGCTTGCTGATTAAACTAGATGACAGAGAAGATCTCTTTCCTTCAGATACACATACTTTTTCTCTGTTCCCCTCTCCCTATCAGCTAGATTCCCCTAAATCACTGATACTGGTTTTGTAATTTTGCATCGGCATGTTTGACAATTGGTATCACATTTAGGGTTTTTCATTCTTTTTTGGTCCAAACTTTTCATTTCTGCTTTTAAAGGAAATACTTTTGGAAACATAAATATGTGGGTTTGCAATTTATAAAGCAGCT... | benign | 213,957 |
Determine whether the variant at chromosome 13, position 32398608, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AGTAGTAAATAGAGCTAGGACTTGAGCCCCAATCTTCCAGCTTCAATCCAGATCATATGACAGCTTGCTGATTAAACTAGATGACAGAGAAGATCTCTTTCCTTCAGATACACATACTTTTTCTCTGTTCCCCTCTCCCTATCAGCTAGATTCCCCTAAATCACTGATACTGGTTTTGTAATTTTGCATCGGCATGTTTGACAATTGGTATCACATTTAGGGTTTTTCATTCTTTTTTGGTCCAAACTTTTCATTTCTGCTTTTAAAGGAAATACTTTTGGAAACATAAATATGTGGGTTTGCAATTTATAAAGCAGCTT... | AGTAGTAAATAGAGCTAGGACTTGAGCCCCAATCTTCCAGCTTCAATCCAGATCATATGACAGCTTGCTGATTAAACTAGATGACAGAGAAGATCTCTTTCCTTCAGATACACATACTTTTTCTCTGTTCCCCTCTCCCTATCAGCTAGATTCCCCTAAATCACTGATACTGGTTTTGTAATTTTGCATCGGCATGTTTGACAATTGGTATCACATTTAGGGTTTTTCATTCTTTTTTGGTCCAAACTTTTCATTTCTGCTTTTAAAGGAAATACTTTTGGAAACATAAATATGTGGGTTTGCAATTTATAAAGCAGCTT... | benign | 213,958 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32398728—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TTCTCTGTTCCCCTCTCCCTATCAGCTAGATTCCCCTAAATCACTGATACTGGTTTTGTAATTTTGCATCGGCATGTTTGACAATTGGTATCACATTTAGGGTTTTTCATTCTTTTTTGGTCCAAACTTTTCATTTCTGCTTTTAAAGGAAATACTTTTGGAAACATAAATATGTGGGTTTGCAATTTATAAAGCAGCTTTTCCACTTATTTTCTTAGAATATTGACATACTTTGCAATGAAGCAGAAAACAAGCTTATGCATATACTGCATGCAAATGATCCCAAGTGGTCCACCCCAACTAAAGACTGTACTTCAGGG... | TTCTCTGTTCCCCTCTCCCTATCAGCTAGATTCCCCTAAATCACTGATACTGGTTTTGTAATTTTGCATCGGCATGTTTGACAATTGGTATCACATTTAGGGTTTTTCATTCTTTTTTGGTCCAAACTTTTCATTTCTGCTTTTAAAGGAAATACTTTTGGAAACATAAATATGTGGGTTTGCAATTTATAAAGCAGCTTTTCCACTTATTTTCTTAGAATATTGACATACTTTGCAATGAAGCAGAAAACAAGCTTATGCATATACTGCATGCAAATGATCCCAAGTGGTCCACCCCAACTAAAGACTGTACTTCAGGG... | benign | 213,993 |
Located at chromosome 13 position 32398763, the variant affecting gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | CTAAATCACTGATACTGGTTTTGTAATTTTGCATCGGCATGTTTGACAATTGGTATCACATTTAGGGTTTTTCATTCTTTTTTGGTCCAAACTTTTCATTTCTGCTTTTAAAGGAAATACTTTTGGAAACATAAATATGTGGGTTTGCAATTTATAAAGCAGCTTTTCCACTTATTTTCTTAGAATATTGACATACTTTGCAATGAAGCAGAAAACAAGCTTATGCATATACTGCATGCAAATGATCCCAAGTGGTCCACCCCAACTAAAGACTGTACTTCAGGGCCGTACACTGCTCAAATCATTCCTGGTACAGGAAA... | CTAAATCACTGATACTGGTTTTGTAATTTTGCATCGGCATGTTTGACAATTGGTATCACATTTAGGGTTTTTCATTCTTTTTTGGTCCAAACTTTTCATTTCTGCTTTTAAAGGAAATACTTTTGGAAACATAAATATGTGGGTTTGCAATTTATAAAGCAGCTTTTCCACTTATTTTCTTAGAATATTGACATACTTTGCAATGAAGCAGAAAACAAGCTTATGCATATACTGCATGCAAATGATCCCAAGTGGTCCACCCCAACTAAAGACTGTACTTCAGGGCCGTACACTGCTCAAATCATTCCTGGTACAGGAAA... | benign | 214,000 |
Is the genetic variant on chromosome 13, position 32399142, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CATCGTATATTCTGTTGTATACCTAGTAAACATGGTAAAATGTAATTAAACTTAATTAGAAAATGTGGTTGTTATGTGGCTCCTGTAAGTATAGTTATTTAGAAATTTTATTTATTGAAGCAAGATATGAAACTCTGGGTGCACACTTTCCAAACAGGTGCTTTCATTTACATGTGATTGAAAAGTGTTTTTTGTCATTTATTTCACTGTTCCATACAATTAGGGTTGTTTCTAAGCTGTTTGTAAGCTGTTTCTAAGCTATTTAAGTGGTTAAATCACAGTAGATGCAAATCAAGCTAAAGTCTTTAACATTGGCTAAT... | CATCGTATATTCTGTTGTATACCTAGTAAACATGGTAAAATGTAATTAAACTTAATTAGAAAATGTGGTTGTTATGTGGCTCCTGTAAGTATAGTTATTTAGAAATTTTATTTATTGAAGCAAGATATGAAACTCTGGGTGCACACTTTCCAAACAGGTGCTTTCATTTACATGTGATTGAAAAGTGTTTTTTGTCATTTATTTCACTGTTCCATACAATTAGGGTTGTTTCTAAGCTGTTTGTAAGCTGTTTCTAAGCTATTTAAGTGGTTAAATCACAGTAGATGCAAATCAAGCTAAAGTCTTTAACATTGGCTAAT... | benign | 214,008 |
Considering the genetic mutation at chromosome 13, position 32399599, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GTGATGTATAACAAAACCATTTTTTTTTCTCATCACTGTTCTAACAAAATGATGTTGAAGATTTAAATGACATTGCTCAAAGACCTGCTATACATTGTTTGACTTAAAGTCACAGTTTCCGAGAACCTATCAATTATGTTAAGTGAGGACTTGACTCTATTATCCTGATTTTGTAGATGAGGAGACTGTGGCATAGAGAGAGGTTAAGCAATTGCCTAATAAGGTCACAAAGCTAGAAAAGTAGGTATTAGAACCCAGATAGTGTGTGTTCTCAAGATGGCTTTAAAATATTTATCTTTGTTTAATCTGTTAATAATAAA... | GTGATGTATAACAAAACCATTTTTTTTTCTCATCACTGTTCTAACAAAATGATGTTGAAGATTTAAATGACATTGCTCAAAGACCTGCTATACATTGTTTGACTTAAAGTCACAGTTTCCGAGAACCTATCAATTATGTTAAGTGAGGACTTGACTCTATTATCCTGATTTTGTAGATGAGGAGACTGTGGCATAGAGAGAGGTTAAGCAATTGCCTAATAAGGTCACAAAGCTAGAAAAGTAGGTATTAGAACCCAGATAGTGTGTGTTCTCAAGATGGCTTTAAAATATTTATCTTTGTTTAATCTGTTAATAATAAA... | benign | 214,012 |
Chromosome 13, position 33063776, gene KL (klotho): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CGACCAGCTGAGGGTGTATTATATGCAGAATTACATAAACGAAGCTCTCAAAGGTAAGGAGCCCTAGCTGCGGCTATCTCCTGAAGGTTATGTCACCAGAGGGCATGACACTTGATTAAATCTCCAACATCAACACACACTGCCACCCTTGGAATGGAGGGCTATCCATTTTGTGCCTCACTGAAACAGTCCAAGAGATATCTAGCATTTCCCCAAGGATAAAGGAGTGTAGCTAAAAGTAGAAGACCAGAAATCCCTAGCCCCTACTCTGGATCTATGCAAGCCTAGATTCTTGTCTTCCATCTTGGATGGCTCCACAG... | CGACCAGCTGAGGGTGTATTATATGCAGAATTACATAAACGAAGCTCTCAAAGGTAAGGAGCCCTAGCTGCGGCTATCTCCTGAAGGTTATGTCACCAGAGGGCATGACACTTGATTAAATCTCCAACATCAACACACACTGCCACCCTTGGAATGGAGGGCTATCCATTTTGTGCCTCACTGAAACAGTCCAAGAGATATCTAGCATTTCCCCAAGGATAAAGGAGTGTAGCTAAAAGTAGAAGACCAGAAATCCCTAGCCCCTACTCTGGATCTATGCAAGCCTAGATTCTTGTCTTCCATCTTGGATGGCTCCACAG... | benign | 214,062 |
Located at chromosome 13 position 35159525, the variant affecting gene NBEA (neurobeachin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Neurodevelopmental_disorder_with_or_without_early-onset_generalized_epilepsy'] | ATCAGGAGTTTTATACCCAAAGCTGACATACATCTGTTTTATAGCAAATCTGGGAACTTTAATCTGAGCCACTTGCTCTTTCAACTGGTTCTTGGAAGAATATTTTATGAAATAGTCTCTGAAATATACTTTTTAAGACTTTTTTTTAAGAAGTCAGATTTTTTTATTTCCAAGTGAATCATAAATACAGTGTTTAAGTTTAGTGGTATTTTAATTGCTTTATCTTTTCTTTATTTTTAATCTTAAAAATCTGTATGTCTATTTTAAGTATTATTTGATCTTTGGTAAAATGAAATAGTGAATTAAACTGTACAAGTATA... | ATCAGGAGTTTTATACCCAAAGCTGACATACATCTGTTTTATAGCAAATCTGGGAACTTTAATCTGAGCCACTTGCTCTTTCAACTGGTTCTTGGAAGAATATTTTATGAAATAGTCTCTGAAATATACTTTTTAAGACTTTTTTTTAAGAAGTCAGATTTTTTTATTTCCAAGTGAATCATAAATACAGTGTTTAAGTTTAGTGGTATTTTAATTGCTTTATCTTTTCTTTATTTTTAATCTTAAAAATCTGTATGTCTATTTTAAGTATTATTTGATCTTTGGTAAAATGAAATAGTGAATTAAACTGTACAAGTATA... | pathogenic | 214,087 |
Variant at chromosome position 35173516, chromosome 13, gene NBEA (neurobeachin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Inborn_genetic_diseases', 'Neurodevelopmental_disorder_with_or_without_early-onset_generalized_epilepsy'] | CAATAGTGCATGTCAAATAATTATCTACAGAGCAGCTTTATAAAGCACTATGGTACATAAAATATTAATGATATAAGTTGATGATTATATAATATGGAGATTATCTTGAGATACAGAGATTATTTTTATAATTAATCAGAATTACTAAATTTTAAAAAATTATGCCTTCACATTGGAGATTTCACAGAACTGATCATCTTTAATGGTTCATAGTTTGAAATCAAGAGTGAAATATACTTGGAATTCTTTCAAAATCAGTAAGACTAACATTTGTCATTGAAGTGATTTTTAATGCAAATCCATTTATGAATCCAATTTTG... | CAATAGTGCATGTCAAATAATTATCTACAGAGCAGCTTTATAAAGCACTATGGTACATAAAATATTAATGATATAAGTTGATGATTATATAATATGGAGATTATCTTGAGATACAGAGATTATTTTTATAATTAATCAGAATTACTAAATTTTAAAAAATTATGCCTTCACATTGGAGATTTCACAGAACTGATCATCTTTAATGGTTCATAGTTTGAAATCAAGAGTGAAATATACTTGGAATTCTTTCAAAATCAGTAAGACTAACATTTGTCATTGAAGTGATTTTTAATGCAAATCCATTTATGAATCCAATTTTG... | pathogenic | 214,091 |
Clinical significance of chromosome 13, position 36314232, gene SPART (spartin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Troyer_syndrome'] | TTAACGATGCATTTAGCTGCACATTCCAATCCTTGCCAGACAGTTGAAAATCCTGTAAAAATAATATTTAAAACGATGTAAATCTAGTCCAAAGCAAACGGACCTTCATAGTTAAAATTCTGGGCCCTTTGTTACCTTGAACACTACTTGCTGCTACAACCATAGCACCATCCAGAGGAGATTTCCCATCTTTGTCTTTTTTAAGAGATTCTGGAACAAGTTTGCTTCCATGCTTCTTGACATGTGGAGCTAGTTCTTTTCCAACGCAATTTGCTACAGTGCAAACTCCATCAACTAATATGACCATAAAAAAAGAAAAC... | TTAACGATGCATTTAGCTGCACATTCCAATCCTTGCCAGACAGTTGAAAATCCTGTAAAAATAATATTTAAAACGATGTAAATCTAGTCCAAAGCAAACGGACCTTCATAGTTAAAATTCTGGGCCCTTTGTTACCTTGAACACTACTTGCTGCTACAACCATAGCACCATCCAGAGGAGATTTCCCATCTTTGTCTTTTTTAAGAGATTCTGGAACAAGTTTGCTTCCATGCTTCTTGACATGTGGAGCTAGTTCTTTTCCAACGCAATTTGCTACAGTGCAAACTCCATCAACTAATATGACCATAAAAAAAGAAAAC... | pathogenic | 214,130 |
A genetic alteration at chromosome 13, position 36314415, in gene SPART (spartin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Troyer_syndrome'] | TCCCATCTTTGTCTTTTTTAAGAGATTCTGGAACAAGTTTGCTTCCATGCTTCTTGACATGTGGAGCTAGTTCTTTTCCAACGCAATTTGCTACAGTGCAAACTCCATCAACTAATATGACCATAAAAAAAGAAAACTTAGGAAAAATATATTATTCCCTTGATTTTTACCACTCATCTTGCAACATTCTTAAATGAACATCTAAATTGTTTTACTATATAATGTTACAATTTCTTCTTAAGGATATGAAGCTTAGAGAGGAGGTCTCACTATGTTGCCCAGGCTGGCCTTGACTTGTACTCCTGGGCTCAAGTGATCCT... | TCCCATCTTTGTCTTTTTTAAGAGATTCTGGAACAAGTTTGCTTCCATGCTTCTTGACATGTGGAGCTAGTTCTTTTCCAACGCAATTTGCTACAGTGCAAACTCCATCAACTAATATGACCATAAAAAAAGAAAACTTAGGAAAAATATATTATTCCCTTGATTTTTACCACTCATCTTGCAACATTCTTAAATGAACATCTAAATTGTTTTACTATATAATGTTACAATTTCTTCTTAAGGATATGAAGCTTAGAGAGGAGGTCTCACTATGTTGCCCAGGCTGGCCTTGACTTGTACTCCTGGGCTCAAGTGATCCT... | pathogenic | 214,132 |
Is the genetic change at chromosome 13, position 36329415, within gene SPART (spartin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['SPART-related_disorder', 'Troyer_syndrome'] | ACAAAGAATGTCACATAAAATATAAAAACAACATTAAACAAAACAACTTCTACATGGGATAAAAGTCACCCATAAGTAAAATCTAAAGCTTTTCACTGCATATACTTTTTAATATCATTTGATTTTTTTAGAACAAGAAATTAAATTTTAAAACACAAAGTTCTAAATGATATGGAAGAATTTCCAAATATACTGTTAAGTAAAAAAGCAAGGAACAAAACATTATGTTTTACATGCCACCATTTATGTTAAATATTATATATGTCTCTGTGTGTGTGTATTTAACTACGCATAAAATATATCTAGAAGGACAACAGAAG... | ACAAAGAATGTCACATAAAATATAAAAACAACATTAAACAAAACAACTTCTACATGGGATAAAAGTCACCCATAAGTAAAATCTAAAGCTTTTCACTGCATATACTTTTTAATATCATTTGATTTTTTTAGAACAAGAAATTAAATTTTAAAACACAAAGTTCTAAATGATATGGAAGAATTTCCAAATATACTGTTAAGTAAAAAAGCAAGGAACAAAACATTATGTTTTACATGCCACCATTTATGTTAAATATTATATATGTCTCTGTGTGTGTGTATTTAACTACGCATAAAATATATCTAGAAGGACAACAGAAG... | pathogenic | 214,135 |
A genetic alteration at chromosome 13, position 36335054, in gene SPART (spartin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['SPART-related_disorder'] | TTTTTCTTTTTTTTTTCTTTTTTTTAAACTATTCCATGGTTTCTTTCAGATTATCTATATCCTGGTCACCTTAATTGAACTGCAATATCACCAAATTGTCTTTAAAAAAACCAACACTTTATAGACCTTTCCTAGGACAGGATATTACAGATAAGTGAGTCATCCACCATAGGCTGATTTTTCCCAGTTTCATTTTCAGAGGGCAATCTCATGTCCAATTTCTGTAATTATAGATTTAACAGGTTTAAAAAGTATTTGGTATTAAAACTAAAACCAAAAGAAAAATCTTTTTTTGAAGTTCCAGAATTCTATCTACCTAA... | TTTTTCTTTTTTTTTTCTTTTTTTTAAACTATTCCATGGTTTCTTTCAGATTATCTATATCCTGGTCACCTTAATTGAACTGCAATATCACCAAATTGTCTTTAAAAAAACCAACACTTTATAGACCTTTCCTAGGACAGGATATTACAGATAAGTGAGTCATCCACCATAGGCTGATTTTTCCCAGTTTCATTTTCAGAGGGCAATCTCATGTCCAATTTCTGTAATTATAGATTTAACAGGTTTAAAAAGTATTTGGTATTAAAACTAAAACCAAAAGAAAAATCTTTTTTTGAAGTTCCAGAATTCTATCTACCTAA... | pathogenic | 214,137 |
The mutation in gene SPART (spartin) at chromosome 13, position 36335134—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Troyer_syndrome'] | TGCAATATCACCAAATTGTCTTTAAAAAAACCAACACTTTATAGACCTTTCCTAGGACAGGATATTACAGATAAGTGAGTCATCCACCATAGGCTGATTTTTCCCAGTTTCATTTTCAGAGGGCAATCTCATGTCCAATTTCTGTAATTATAGATTTAACAGGTTTAAAAAGTATTTGGTATTAAAACTAAAACCAAAAGAAAAATCTTTTTTTGAAGTTCCAGAATTCTATCTACCTAAAACCAAAAAAACTTAATTTCCTATTTAGACCAATAGTGATTTTAACAGTGATTTTTAGCACAGGAAATATCTAACTTCTA... | TGCAATATCACCAAATTGTCTTTAAAAAAACCAACACTTTATAGACCTTTCCTAGGACAGGATATTACAGATAAGTGAGTCATCCACCATAGGCTGATTTTTCCCAGTTTCATTTTCAGAGGGCAATCTCATGTCCAATTTCTGTAATTATAGATTTAACAGGTTTAAAAAGTATTTGGTATTAAAACTAAAACCAAAAGAAAAATCTTTTTTTGAAGTTCCAGAATTCTATCTACCTAAAACCAAAAAAACTTAATTTCCTATTTAGACCAATAGTGATTTTAACAGTGATTTTTAGCACAGGAAATATCTAACTTCTA... | pathogenic | 214,138 |
Mutation found at chromosome 13 position 36335134, gene SPART (spartin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic | TGCAATATCACCAAATTGTCTTTAAAAAAACCAACACTTTATAGACCTTTCCTAGGACAGGATATTACAGATAAGTGAGTCATCCACCATAGGCTGATTTTTCCCAGTTTCATTTTCAGAGGGCAATCTCATGTCCAATTTCTGTAATTATAGATTTAACAGGTTTAAAAAGTATTTGGTATTAAAACTAAAACCAAAAGAAAAATCTTTTTTTGAAGTTCCAGAATTCTATCTACCTAAAACCAAAAAAACTTAATTTCCTATTTAGACCAATAGTGATTTTAACAGTGATTTTTAGCACAGGAAATATCTAACTTCTA... | TGCAATATCACCAAATTGTCTTTAAAAAAACCAACACTTTATAGACCTTTCCTAGGACAGGATATTACAGATAAGTGAGTCATCCACCATAGGCTGATTTTTCCCAGTTTCATTTTCAGAGGGCAATCTCATGTCCAATTTCTGTAATTATAGATTTAACAGGTTTAAAAAGTATTTGGTATTAAAACTAAAACCAAAAGAAAAATCTTTTTTTGAAGTTCCAGAATTCTATCTACCTAAAACCAAAAAAACTTAATTTCCTATTTAGACCAATAGTGATTTTAACAGTGATTTTTAGCACAGGAAATATCTAACTTCTA... | pathogenic | 214,139 |
The mutation impacting SPART (spartin) on chromosome 13 at position 36335465: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases', 'Neurodevelopmental_delay', 'Troyer_syndrome'] | GATTATTATTGTATTTTTTTTTTTTTTTTGGATAAAAACATTCAGTAAACACATATGTTAACTCCTTTTAAGGACACTCTGCTACAAATACCTGAATACAAGCAAATGAGAACCTCTTAAAGAGACTCAAATTAAATTTTGGGTGCAATTTTACTTTTCGTTTAGGACAAAAAATACACATGAGAAAGATTAAAAACAAAATTAAATGCACTAAGGACAAATTTGTATTAAAGTACAAGTCATTTCAATGGATGAGTGAATGTAACCACGGTACAGTATTTCTGCCATTCACTACCCCATCTCCAGTTGCTAAGGACCCA... | GATTATTATTGTATTTTTTTTTTTTTTTTGGATAAAAACATTCAGTAAACACATATGTTAACTCCTTTTAAGGACACTCTGCTACAAATACCTGAATACAAGCAAATGAGAACCTCTTAAAGAGACTCAAATTAAATTTTGGGTGCAATTTTACTTTTCGTTTAGGACAAAAAATACACATGAGAAAGATTAAAAACAAAATTAAATGCACTAAGGACAAATTTGTATTAAAGTACAAGTCATTTCAATGGATGAGTGAATGTAACCACGGTACAGTATTTCTGCCATTCACTACCCCATCTCCAGTTGCTAAGGACCCA... | pathogenic | 214,142 |
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