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 |
|---|---|---|---|---|---|
Classify the chromosome 13 variant at position 32337498 affecting gene BRCA2 (BRCA2 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGC... | AACTCATTTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGC... | pathogenic | 209,650 |
Clinical significance of chromosome 13, position 32337505, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAA... | TTGCCTTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAA... | pathogenic | 209,651 |
Variant at chromosome position 32337510, chromosome 13, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAA... | TTTATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAA... | pathogenic | 209,654 |
Benign or pathogenic: chromosome 13, position 32337512, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['BRCA2-related_cancer_predisposition', '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_syndrom... | TATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATA... | TATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATA... | pathogenic | 209,656 |
The chromosome 13, position 32337512 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'] | TATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATA... | TATCGTTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATA... | pathogenic | 209,657 |
Located at chromosome 13 position 32337517, the variant affecting gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGA... | TTGAGATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGA... | pathogenic | 209,659 |
Variant at chromosome 13, position 32337521, 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'] | GATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAA... | GATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAA... | pathogenic | 209,661 |
Is the chromosome 13, position 32337521 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', 'Familial_pancreatic_carcinoma', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAA... | GATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAA... | pathogenic | 209,662 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32337521—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['BRCA2-related_cancer_predisposition', 'BRCA2-related_disorder', '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'] | GATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAA... | GATTAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAA... | pathogenic | 209,663 |
Clinical significance of chromosome 13, position 32337524, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAG... | TAGATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAG... | pathogenic | 209,665 |
Variant chromosome 13, position 32337526, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAG... | GATCATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAG... | pathogenic | 209,666 |
Considering the genetic mutation at chromosome 13, position 32337529, 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'] | CATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCAT... | CATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCAT... | pathogenic | 209,669 |
Evaluate if the mutation on chromosome 13 at position 32337530 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATA... | ATCTTTCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATA... | pathogenic | 209,670 |
Does the genetic variant at chromosome 13, position 32337535, impacting gene BRCA2 (BRCA2 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAG... | TCAGGCTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAG... | pathogenic | 209,672 |
Regarding the variant at chromosome 13 and position 32337540, 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', '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... | CTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTC... | CTGTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTC... | pathogenic | 209,674 |
The genetic variant at chromosome 13, position 32337542, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTT... | GTTAGTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTT... | pathogenic | 209,675 |
Variant at chromosome position 32337546, 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', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Me... | GTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTG... | GTATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTG... | pathogenic | 209,680 |
Clinical significance of chromosome 13, position 32337548, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | ATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCT... | ATATGGACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCT... | pathogenic | 209,681 |
Is the genetic change at chromosome 13, position 32337553, within 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,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_carcinoma', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAA... | GACCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAA... | pathogenic | 209,682 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32337555: 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'] | CCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATT... | CCCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATT... | pathogenic | 209,683 |
Determine if the mutation at chromosome 13, position 32337556 in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTT... | CCTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTT... | pathogenic | 209,685 |
Clinical classification of chromosome 13, position 32337557, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTG... | CTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTG... | pathogenic | 209,686 |
Located at chromosome 13 position 32337557, the variant affecting gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | CTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTG... | CTGTTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTG... | pathogenic | 209,687 |
Variant on chromosome 13, at position 32337560, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACA... | TTTTTAAAAATTGTGGTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACA... | pathogenic | 209,689 |
Determine whether the variant at chromosome 13, position 32337575, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCAT... | GTTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCAT... | pathogenic | 209,697 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32337576, 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'] | TTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATG... | TTTTGTTTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATG... | pathogenic | 209,698 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32337582—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTT... | TTTTTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTT... | pathogenic | 209,701 |
Variant at chromosome position 32337585, 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_cancer-predisposing_syndrome'] | TTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTG... | TTTCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTG... | pathogenic | 209,703 |
For chromosome 13, position 32337587, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_breast_ovarian_cancer_syndrome'] | TCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTT... | TCAATGTGAAAGAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTT... | pathogenic | 209,704 |
Is the chromosome 13, position 32337598 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'] | GAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTAC... | GAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTAC... | pathogenic | 209,705 |
Chromosome 13, position 32337598, 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'] | GAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTAC... | GAATTAAGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTAC... | pathogenic | 209,706 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32337604—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTA... | AGAAAATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTA... | pathogenic | 209,709 |
Is the genetic variant on chromosome 13, position 32337608, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTA... | AATTGTTACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTA... | pathogenic | 209,711 |
Is the chromosome 13, position 32337614 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_cancer-predisposing_syndrome'] | TACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTAT... | TACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTAT... | pathogenic | 209,713 |
The genetic variant at chromosome 13, position 32337614, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | TACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTAT... | TACTTTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTAT... | pathogenic | 209,714 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32337618: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['BRCA2-related_cancer_predisposition', '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_syndrom... | TTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTAT... | TTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTAT... | pathogenic | 209,716 |
Evaluate this variant at chromosome 13, position 32337618, 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'] | TTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTAT... | TTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTAT... | pathogenic | 209,717 |
Chromosome 13, position 32337618, 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'] | TTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTAT... | TTTCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTAT... | pathogenic | 209,718 |
Regarding the variant at chromosome 13 and position 32337620, 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'] | TCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTT... | TCTAATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTT... | pathogenic | 209,721 |
Mutation at chromosome 13, position 32337623, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTA... | AATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTA... | pathogenic | 209,722 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32337624, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTAT... | ATTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTAT... | pathogenic | 209,723 |
Chromosome 13, position 32337625, 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', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATT... | TTCCTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATT... | pathogenic | 209,724 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32337628—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTT... | CTTTTCTGTGCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTT... | pathogenic | 209,726 |
A mutation at chromosome position 32337637 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'] | GCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTG... | GCCTTGCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTG... | pathogenic | 209,730 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32337642: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | GCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCA... | GCTTTTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCA... | pathogenic | 209,733 |
Considering the variant on chromosome 13, location 32337646, 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', 'Familial_cancer_of_breast'] | TTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCT... | TTCTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCT... | pathogenic | 209,735 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32337648: 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'] | CTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGT... | CTGTTCACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGT... | pathogenic | 209,736 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32337654 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTA... | ACACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTA... | pathogenic | 209,739 |
Variant at chromosome 13, position 32337655, 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'] | CACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAG... | CACCAGTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAG... | pathogenic | 209,740 |
Regarding the variant found on chromosome 13 at position 32337660 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'] | GTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGG... | GTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGG... | pathogenic | 209,742 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32337660, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Malignant_tumor_of_breast'] | GTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGG... | GTATTAACAGCAATGAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGG... | pathogenic | 209,743 |
A genetic alteration at chromosome 13, position 32337674, 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'] | GAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTG... | GAAATTTTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTG... | pathogenic | 209,748 |
Clinically, how would you classify the variant at chromosome 13, position 32337680, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCA... | TTTTCAATTTTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCA... | pathogenic | 209,751 |
Clinically, how would you classify the variant at chromosome 13, position 32337689, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGT... | TTATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGT... | pathogenic | 209,756 |
Does the chromosome 13 mutation at position 32337690 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'] | TATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTA... | TATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTA... | pathogenic | 209,757 |
Does the variant on chromosome 13 at location 32337690 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTA... | TATTTTCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTA... | pathogenic | 209,758 |
Regarding the variant at chromosome 13 and position 32337695, 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'] | TCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTC... | TCCAATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTC... | pathogenic | 209,760 |
Mutation found at chromosome 13 position 32337698, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | AATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACC... | AATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACC... | pathogenic | 209,761 |
The genetic variant at chromosome 13, position 32337699, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCC... | ATAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCC... | pathogenic | 209,762 |
Benign or pathogenic: chromosome 13, position 32337700, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCT... | TAAAAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCT... | pathogenic | 209,763 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32337703, 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'] | AAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCT... | AAATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCT... | pathogenic | 209,764 |
Determine if the mutation at chromosome 13, position 32337705 in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | ATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGG... | ATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGG... | pathogenic | 209,765 |
Variant at chromosome position 32337705, 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'] | ATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGG... | ATTACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGG... | pathogenic | 209,766 |
Is the genetic variant on chromosome 13, position 32337707, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGC... | TACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGC... | pathogenic | 209,768 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32337708, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCT... | ACTTTGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCT... | pathogenic | 209,769 |
Is the genetic variant on chromosome 13, position 32337712, 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'] | TGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAG... | TGAGTTTTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAG... | pathogenic | 209,771 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32337718, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCC... | TTTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCC... | pathogenic | 209,776 |
Is the chromosome 13, position 32337719 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCT... | TTTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCT... | pathogenic | 209,777 |
For chromosome 13, position 32337720, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | TTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTT... | TTTTATGGTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTT... | pathogenic | 209,778 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32337727: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTC... | GTAGCTAGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTC... | pathogenic | 209,780 |
Is chromosome 13, position 32337733, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | AGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTC... | AGCTACTTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTC... | pathogenic | 209,782 |
Mutation found at chromosome 13 position 32337739, 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_cancer-predisposing_syndrome'] | TTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGT... | TTCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGT... | pathogenic | 209,785 |
Does the genetic variant at chromosome 13, position 32337740, impacting gene BRCA2 (BRCA2 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTA... | TCCTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTA... | pathogenic | 209,786 |
Clinically, how would you classify the variant at chromosome 13, position 32337742, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAAC... | CTTGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAAC... | pathogenic | 209,788 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32337744: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTG... | TGACCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTG... | pathogenic | 209,789 |
For chromosome 13, position 32337747, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | CCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCA... | CCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCA... | pathogenic | 209,790 |
Variant at chromosome 13, position 32337747, gene BRCA2 (BRCA2 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCA... | CCTAGATACTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCA... | pathogenic | 209,791 |
Regarding the variant found on chromosome 13 at position 32337755 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'] | CTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGC... | CTAATTTTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGC... | pathogenic | 209,795 |
Is the genetic change at chromosome 13, position 32337761, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACAC... | TTGATTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACAC... | pathogenic | 209,798 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32337765, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | TTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACC... | TTGAGTTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACC... | pathogenic | 209,799 |
Chromosome 13, position 32337770, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | TTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACC... | TTGGTAACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACC... | pathogenic | 209,802 |
A genetic variant on chromosome 13, position 32337776, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | ACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTA... | ACTATTATTAAAAAAACAACTTAGGTCTAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTA... | pathogenic | 209,805 |
Is the genetic mutation found on chromosome 13 at position 32337803, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTC... | TAATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTC... | pathogenic | 209,813 |
Variant on chromosome 13, at position 32337804, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['BRCA2-related_cancer_predisposition', '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_syndrom... | AATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCT... | AATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCT... | pathogenic | 209,814 |
A genetic alteration at chromosome 13, position 32337804, 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', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCT... | AATTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCT... | pathogenic | 209,815 |
Clinical significance of chromosome 13, position 32337806, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCA... | TTTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCA... | pathogenic | 209,817 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32337807: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Malignant_tumor_of_breast'] | TTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCAC... | TTATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCAC... | pathogenic | 209,818 |
Clinical significance of chromosome 13, position 32337808, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACT... | TATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACT... | pathogenic | 209,819 |
Located at chromosome 13 position 32337808, the variant affecting gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACT... | TATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACT... | pathogenic | 209,820 |
Considering the variant on chromosome 13, location 32337808, 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', 'Malignant_tumor_of_breast'] | TATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACT... | TATCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACT... | pathogenic | 209,821 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32337810, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTAT... | TCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTAT... | pathogenic | 209,824 |
Benign or pathogenic: chromosome 13, position 32337810, gene BRCA2 (BRCA2 DNA repair associated) variant? 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... | TCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTAT... | TCTTGAGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTAT... | pathogenic | 209,825 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32337815—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGC... | AGCTAAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGC... | pathogenic | 209,827 |
Determine whether the variant at chromosome 13, position 32337819, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | AAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAG... | AAAAAATGTAATAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAG... | pathogenic | 209,830 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32337830—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | TAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGA... | TAACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGA... | pathogenic | 209,834 |
Assess the variant on chromosome 13, position 32337832, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAAC... | ACTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAAC... | pathogenic | 209,836 |
Regarding the variant found on chromosome 13 at position 32337833 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', 'Hereditary_breast_ovarian_cancer_syndrome'] | CTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACT... | CTGAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACT... | pathogenic | 209,838 |
Variant at chromosome 13, position 32337835, 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', 'Malignant_tumor_of_breast'] | GAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCC... | GAAAAATAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCC... | pathogenic | 209,840 |
Is chromosome 13, position 32337841, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCT... | TAGAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCT... | pathogenic | 209,842 |
A genetic variant at chromosome 13, position 32337843, 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'] | GAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCA... | GAGCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCA... | pathogenic | 209,843 |
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