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 |
|---|---|---|---|---|---|
Considering the variant on chromosome 13, location 32329483, 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'] | GCTGAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCTGTCTCTATTAAAATAGAAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAAACTACTTAAAAATCTCTGAGTAGCTGAGATTTGGCTAATCATGACTTAGTATTTG... | GCTGAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCTGTCTCTATTAAAATAGAAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAAACTACTTAAAAATCTCTGAGTAGCTGAGATTTGGCTAATCATGACTTAGTATTTG... | pathogenic | 208,348 |
Does the genetic variant at chromosome 13, position 32329484, 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_cancer-predisposing_syndrome'] | CTGAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCTGTCTCTATTAAAATAGAAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAAACTACTTAAAAATCTCTGAGTAGCTGAGATTTGGCTAATCATGACTTAGTATTTGA... | CTGAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCTGTCTCTATTAAAATAGAAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAAACTACTTAAAAATCTCTGAGTAGCTGAGATTTGGCTAATCATGACTTAGTATTTGA... | pathogenic | 208,349 |
Classify the chromosome 13 variant at position 32329487 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'] | AGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCTGTCTCTATTAAAATAGAAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAAACTACTTAAAAATCTCTGAGTAGCTGAGATTTGGCTAATCATGACTTAGTATTTGAAAA... | AGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCTGTCTCTATTAAAATAGAAAAAATTAGCTGGGCGTGGTGGCAGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAAACTACTTAAAAATCTCTGAGTAGCTGAGATTTGGCTAATCATGACTTAGTATTTGAAAA... | pathogenic | 208,350 |
Chromosome 13, position 32329587, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | AGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAAACTACTTAAAAATCTCTGAGTAGCTGAGATTTGGCTAATCATGACTTAGTATTTGAAAAGTTGTGACTATTTTTTTTTTTTTTAATTGAGACAAGGTTCTTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCGTCGCAGTTCACTGCAGCCTCAACCT... | AGACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGATCTTGTAGTGATCTGAGATCATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCCTGTTATAAAACTACTTAAAAATCTCTGAGTAGCTGAGATTTGGCTAATCATGACTTAGTATTTGAAAAGTTGTGACTATTTTTTTTTTTTTTAATTGAGACAAGGTTCTTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCGTCGCAGTTCACTGCAGCCTCAACCT... | benign | 208,355 |
Does the chromosome 13 mutation at position 32329806 within gene BRCA2 (BRCA2 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | AGTTGTGACTATTTTTTTTTTTTTTAATTGAGACAAGGTTCTTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCGTCGCAGTTCACTGCAGCCTCAACCTCCCAGGCTCAATTAATCTTTCTTCCTCTTAGCCTTCCAAGTATCTGGGACTACAGGTACCATGCCACCAGTATACTACCAGTCCTGGCTAATTTTTTTTGTATTTTTTGTAGAGATGGGTCCCGCCATGTTGCCCACACTTGTCTCAAATTCCTGAGCTCAAGCAGCCACCACACCCACCTGTGACCATTCTTTTTTATTTTTATGAGATAATAAACAT... | AGTTGTGACTATTTTTTTTTTTTTTAATTGAGACAAGGTTCTTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCGTCGCAGTTCACTGCAGCCTCAACCTCCCAGGCTCAATTAATCTTTCTTCCTCTTAGCCTTCCAAGTATCTGGGACTACAGGTACCATGCCACCAGTATACTACCAGTCCTGGCTAATTTTTTTTGTATTTTTTGTAGAGATGGGTCCCGCCATGTTGCCCACACTTGTCTCAAATTCCTGAGCTCAAGCAGCCACCACACCCACCTGTGACCATTCTTTTTTATTTTTATGAGATAATAAACAT... | benign | 208,359 |
Considering the variant on chromosome 13, location 32330656, 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? | benign | TAAATGAAATGAAAATTCTGAGTACATCACATGTAGTTAGGGTTTAGAAAATAAAAAATACAATATATCTAGTTAAATTTGGACTTCAGGTAAACAGCGAATAATTTTGAGATATACTTAACACTAAAAAATTATTCATTGTTTATCTGAAATTCAAATTTAATGAGGTGTCCTGTATTTTATCCAGAAGTCCTACACACAGTAAAGTTTGTTTTGTAAAACTTTTTTACTTAACCTTTGTGTGCCCATGTGTGTGTGCAGTCATAAAGTGTGTGTGTGTGTGTGTATTTAAAAAACTAGGTTGTACTCAAAGCCTGAGC... | TAAATGAAATGAAAATTCTGAGTACATCACATGTAGTTAGGGTTTAGAAAATAAAAAATACAATATATCTAGTTAAATTTGGACTTCAGGTAAACAGCGAATAATTTTGAGATATACTTAACACTAAAAAATTATTCATTGTTTATCTGAAATTCAAATTTAATGAGGTGTCCTGTATTTTATCCAGAAGTCCTACACACAGTAAAGTTTGTTTTGTAAAACTTTTTTACTTAACCTTTGTGTGCCCATGTGTGTGTGCAGTCATAAAGTGTGTGTGTGTGTGTGTATTTAAAAAACTAGGTTGTACTCAAAGCCTGAGC... | benign | 208,364 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32330904—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TGTGTGTGTGCAGTCATAAAGTGTGTGTGTGTGTGTGTATTTAAAAAACTAGGTTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTT... | TGTGTGTGTGCAGTCATAAAGTGTGTGTGTGTGTGTGTATTTAAAAAACTAGGTTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTT... | benign | 208,369 |
A genetic variant at chromosome 13, position 32330920, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAAAGTGTGTGTGTGTGTGTGTATTTAAAAAACTAGGTTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGAC... | TAAAGTGTGTGTGTGTGTGTGTATTTAAAAAACTAGGTTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGAC... | pathogenic | 208,376 |
Is chromosome 13, position 32330928, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTGTGTGTGTGTGTATTTAAAAAACTAGGTTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTAC... | GTGTGTGTGTGTGTATTTAAAAAACTAGGTTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTAC... | pathogenic | 208,378 |
Is chromosome 13, position 32330930, 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'] | GTGTGTGTGTGTATTTAAAAAACTAGGTTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCA... | GTGTGTGTGTGTATTTAAAAAACTAGGTTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCA... | pathogenic | 208,379 |
Evaluate this variant at chromosome 13, position 32330932, 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', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTGTGTGTGTATTTAAAAAACTAGGTTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATA... | GTGTGTGTGTATTTAAAAAACTAGGTTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATA... | pathogenic | 208,380 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32330937, 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'] | TGTGTATTTAAAAAACTAGGTTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTA... | TGTGTATTTAAAAAACTAGGTTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTA... | pathogenic | 208,381 |
Variant at chromosome position 32330949, 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'] | AAACTAGGTTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAG... | AAACTAGGTTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAG... | pathogenic | 208,383 |
Clinically, how would you classify the variant at chromosome 13, position 32330949, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAACTAGGTTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAG... | AAACTAGGTTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAG... | pathogenic | 208,385 |
Variant on chromosome 13, at position 32330952, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CTAGGTTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCA... | CTAGGTTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCA... | pathogenic | 208,386 |
The genetic variant at chromosome 13, position 32330953, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | TAGGTTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCAT... | TAGGTTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCAT... | pathogenic | 208,387 |
Does the genetic variant at chromosome 13, position 32330957, impacting gene BRCA2 (BRCA2 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCT... | TTGTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCT... | pathogenic | 208,388 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32330959, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTA... | GTACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTA... | pathogenic | 208,390 |
Mutation found at chromosome 13 position 32330960, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTAC... | TACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTAC... | pathogenic | 208,391 |
Does the variant on chromosome 13 at location 32330960 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTAC... | TACTCAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTAC... | pathogenic | 208,392 |
Variant on chromosome 13, at position 32330964, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast_and/or_ovarian_cancer', 'Hereditary_cancer-predisposing_syndrome'] | CAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACC... | CAAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACC... | pathogenic | 208,394 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32330965—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCT... | AAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCT... | pathogenic | 208,395 |
Is the genetic change at chromosome 13, position 32330965, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCT... | AAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCT... | pathogenic | 208,396 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32330965, gene BRCA2 (BRCA2 DNA repair associated): what 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... | AAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCT... | AAAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCT... | pathogenic | 208,397 |
Does the chromosome 13 mutation at position 32330966 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'] | AAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTT... | AAGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTT... | pathogenic | 208,398 |
Classify the chromosome 13 variant at position 32330967 affecting gene BRCA2 (BRCA2 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast_neoplasm', 'Hereditary_breast_ovarian_cancer_syndrome'] | AGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTG... | AGCCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTG... | pathogenic | 208,399 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32330969, 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'] | CCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTG... | CCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTG... | pathogenic | 208,400 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32330969—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTG... | CCTGAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTG... | pathogenic | 208,401 |
For chromosome 13, position 32330972, 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', 'Hereditary_cancer-predisposing_syndrome'] | GAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGT... | GAGCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGT... | pathogenic | 208,403 |
Benign or pathogenic: chromosome 13, position 32330974, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAG... | GCTTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAG... | pathogenic | 208,404 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32330976, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTA... | TTAATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTA... | pathogenic | 208,406 |
Does the genetic variant at chromosome 13, position 32330979, 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'] | ATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTA... | ATTTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTA... | pathogenic | 208,408 |
Variant on chromosome 13, at position 32330981, 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'] | TTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAG... | TTATTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAG... | pathogenic | 208,410 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32330984 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAA... | TTCCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAA... | pathogenic | 208,412 |
A genetic variant on chromosome 13, position 32330986, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['BRCA2-related_cancer_predisposition', 'BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Gastric_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_o... | CCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGT... | CCCAAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGT... | pathogenic | 208,413 |
Considering the variant on chromosome 13, location 32330989, 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', 'Hereditary_cancer-predisposing_syndrome'] | AAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAG... | AAACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAG... | pathogenic | 208,415 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32330991, 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'] | ACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTA... | ACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTA... | pathogenic | 208,416 |
Regarding the variant found on chromosome 13 at position 32330991 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', 'Hereditary_cancer-predisposing_syndrome'] | ACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTA... | ACCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTA... | pathogenic | 208,417 |
A genetic alteration at chromosome 13, position 32330992, 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'] | CCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTAT... | CCAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTAT... | pathogenic | 208,418 |
Determine if the mutation at chromosome 13, position 32330993 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'] | CAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATA... | CAGTATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATA... | pathogenic | 208,420 |
Variant chromosome 13, position 32330997, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | ATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATAGTTT... | ATTACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATAGTTT... | pathogenic | 208,421 |
Benign or pathogenic: chromosome 13, position 32331000, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATAGTTTATT... | ACATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATAGTTTATT... | pathogenic | 208,422 |
The genetic variant at chromosome 13, position 32331002, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATAGTTTATTCA... | ATTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATAGTTTATTCA... | pathogenic | 208,424 |
A genetic alteration at chromosome 13, position 32331003, 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'] | TTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATAGTTTATTCAC... | TTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATAGTTTATTCAC... | pathogenic | 208,425 |
Clinically, how would you classify the variant at chromosome 13, position 32331003, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['BRCA2-related_cancer_predisposition', 'BRCA2-related_disorder', '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_sy... | TTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATAGTTTATTCAC... | TTTTGTTTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATAGTTTATTCAC... | pathogenic | 208,426 |
Clinical significance of chromosome 13, position 32331009, 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'] | TTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATAGTTTATTCACTGTGTT... | TTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATAGTTTATTCACTGTGTT... | pathogenic | 208,428 |
Mutation found at chromosome 13 position 32331009, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATAGTTTATTCACTGTGTT... | TTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATAGTTTATTCACTGTGTT... | pathogenic | 208,429 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32331009: 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'] | TTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATAGTTTATTCACTGTGTT... | TTATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATAGTTTATTCACTGTGTT... | pathogenic | 208,430 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32331011, gene BRCA2 (BRCA2 DNA repair associated): what 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... | ATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATAGTTTATTCACTGTGTTGA... | ATTCTAGCAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATAGTTTATTCACTGTGTTGA... | pathogenic | 208,432 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32331018 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | CAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATAGTTTATTCACTGTGTTGATTGACCT... | CAAAATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATAGTTTATTCACTGTGTTGATTGACCT... | pathogenic | 208,435 |
Mutation found at chromosome 13 position 32331022, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | ATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATAGTTTATTCACTGTGTTGATTGACCTTTCT... | ATAGCATTCTGTTTTGATTCCTCTTTAGCTGGGAGTAAGTTAACCCTATTCTGTTGCTTAGATGAAATAATATGGATAAAATCATTTTGAAAATATGTATTTAATATATAGTATGCCTTTAGGCTGTAGTGTTGTCTAAATGAATGCTAAAGTCTCCAAGCTTTAGCTTTTAAGTCATAACCTCACAGCATCATCTGACTTTCCAACTCATTGTGGACAGTATTACCATAAAGTAATGATCACCAAGCCATATCTTACCACCTTGTGAGTAGTACTAAGGAAGTAAGTATAGTTTATTCACTGTGTTGATTGACCTTTCT... | pathogenic | 208,436 |
Is chromosome 13, position 32332273, 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', 'Gastric_cancer'] | ATGTAATACCTTTTCTACTTCTATGGTGCACTGTGTGGCCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCT... | ATGTAATACCTTTTCTACTTCTATGGTGCACTGTGTGGCCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCT... | pathogenic | 208,455 |
Variant on chromosome 13, at position 32332276, 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', 'Breast_neoplasm'] | TAATACCTTTTCTACTTCTATGGTGCACTGTGTGGCCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGAT... | TAATACCTTTTCTACTTCTATGGTGCACTGTGTGGCCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGAT... | pathogenic | 208,457 |
Regarding the variant found on chromosome 13 at position 32332276 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', 'Hereditary_cancer-predisposing_syndrome'] | TAATACCTTTTCTACTTCTATGGTGCACTGTGTGGCCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGAT... | TAATACCTTTTCTACTTCTATGGTGCACTGTGTGGCCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGAT... | pathogenic | 208,458 |
Does the variant on chromosome 13 at location 32332278 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', 'Fanconi_anemia_complementation_group_D1', 'Gastric_cancer', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATACCTTTTCTACTTCTATGGTGCACTGTGTGGCCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAA... | ATACCTTTTCTACTTCTATGGTGCACTGTGTGGCCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAA... | pathogenic | 208,460 |
Variant at chromosome position 32332286, chromosome 13, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | TCTACTTCTATGGTGCACTGTGTGGCCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACA... | TCTACTTCTATGGTGCACTGTGTGGCCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACA... | pathogenic | 208,464 |
Does the genetic variant at chromosome 13, position 32332288, 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_cancer-predisposing_syndrome'] | TACTTCTATGGTGCACTGTGTGGCCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAAC... | TACTTCTATGGTGCACTGTGTGGCCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAAC... | pathogenic | 208,467 |
Is the genetic mutation found on chromosome 13 at position 32332299, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TGCACTGTGTGGCCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGAC... | TGCACTGTGTGGCCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGAC... | pathogenic | 208,471 |
A genetic alteration at chromosome 13, position 32332301, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CACTGTGTGGCCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTA... | CACTGTGTGGCCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTA... | pathogenic | 208,472 |
Does the chromosome 13 mutation at position 32332308 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'] | TGGCCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTG... | TGGCCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTG... | pathogenic | 208,474 |
Is the chromosome 13, position 32332308 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGGCCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTG... | TGGCCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTG... | pathogenic | 208,475 |
Chromosome 13, position 32332310, 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'] | GCCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGG... | GCCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGG... | pathogenic | 208,477 |
Mutation found at chromosome 13 position 32332311, 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'] | CCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGT... | CCACAACATTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGT... | pathogenic | 208,478 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32332319—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATA... | TTTGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATA... | pathogenic | 208,480 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32332321, 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'] | TGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACA... | TGCAGTTTGAGGTGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACA... | pathogenic | 208,481 |
A mutation at chromosome position 32332333 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGC... | TGTGACAGCAAAACCAGCTCATATGTCTTTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGC... | pathogenic | 208,484 |
Evaluate this variant at chromosome 13, position 32332361, 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'] | TTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAG... | TTCTCCTTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAG... | pathogenic | 208,492 |
Considering the genetic mutation at chromosome 13, position 32332367, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGAT... | TTCACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGAT... | pathogenic | 208,496 |
Does the genetic variant at chromosome 13, position 32332369, 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', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGG... | CACAATCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGG... | pathogenic | 208,498 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32332374, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAA... | TCTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAA... | pathogenic | 208,499 |
Does the variant on chromosome 13 at location 32332375 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'] | CTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAG... | CTCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAG... | pathogenic | 208,501 |
Is the chromosome 13, position 32332376 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGA... | TCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGA... | pathogenic | 208,502 |
Mutation at chromosome 13, position 32332376, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGA... | TCACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGA... | pathogenic | 208,503 |
Is the genetic change at chromosome 13, position 32332377, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | CACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGAT... | CACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGAT... | pathogenic | 208,504 |
Chromosome 13, position 32332378, 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'] | ACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATG... | ACAGATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATG... | pathogenic | 208,505 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32332381 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | GATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTG... | GATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTG... | pathogenic | 208,508 |
Determine whether the variant at chromosome 13, position 32332382, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGC... | ATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGC... | pathogenic | 208,509 |
Classify the chromosome 13 variant at position 32332382 affecting gene BRCA2 (BRCA2 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | ATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGC... | ATAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGC... | pathogenic | 208,510 |
Assess the variant on chromosome 13, position 32332383, 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'] | TAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCA... | TAGATTTGTTCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCA... | pathogenic | 208,511 |
Does the variant on chromosome 13 at location 32332392 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTT... | TCTTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTT... | pathogenic | 208,515 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32332394—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTT... | TTACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTT... | pathogenic | 208,516 |
Determine if the mutation at chromosome 13, position 32332395 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'] | TACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTC... | TACCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTC... | pathogenic | 208,517 |
Variant at chromosome 13, position 32332397, 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'] | CCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTC... | CCATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTC... | pathogenic | 208,519 |
Benign or pathogenic: chromosome 13, position 32332398, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCC... | CATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCC... | pathogenic | 208,520 |
Variant on chromosome 13, at position 32332398, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Medulloblastoma', 'Pancreatic_cancer,_susceptibility_to,_2', 'Wilms_tumor_1'] | CATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCC... | CATAGATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCC... | pathogenic | 208,521 |
Variant at chromosome position 32332403, 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'] | ATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTC... | ATGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTC... | pathogenic | 208,522 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32332404, 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'] | TGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCC... | TGTCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCC... | pathogenic | 208,525 |
Regarding the variant found on chromosome 13 at position 32332406 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', 'Hereditary_cancer-predisposing_syndrome'] | TCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCAT... | TCGCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCAT... | pathogenic | 208,527 |
Mutation at chromosome 13, position 32332408, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | GCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTT... | GCAGTACAATTTTTTTCCTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTT... | pathogenic | 208,530 |
Is the chromosome 13, position 32332425 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'] | CTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTC... | CTTTCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTC... | pathogenic | 208,532 |
Clinically, how would you classify the variant at chromosome 13, position 32332428, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | 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... | TCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCAC... | TCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCAC... | pathogenic | 208,533 |
Chromosome 13, position 32332428, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCAC... | TCCTTAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCAC... | pathogenic | 208,535 |
Considering the genetic mutation at chromosome 13, position 32332432, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCC... | TAAGTCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCC... | pathogenic | 208,538 |
Clinically, how would you classify the variant at chromosome 13, position 32332436, 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'] | TCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGT... | TCGAGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGT... | pathogenic | 208,540 |
Evaluate if the mutation on chromosome 13 at position 32332439 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGT... | AGAACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGT... | pathogenic | 208,542 |
Is the genetic mutation found on chromosome 13 at position 32332442, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCA... | ACTTTCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCA... | pathogenic | 208,545 |
Classify the chromosome 13 variant at position 32332446 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'] | TCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGAT... | TCACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGAT... | pathogenic | 208,546 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32332448, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | ACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTT... | ACTGTTTCAATTAAAGGAAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTT... | pathogenic | 208,548 |
Is the genetic variant on chromosome 13, position 32332465, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome', 'Neuroendocrine_tumor_of_pancreas'] | AAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGA... | AAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGA... | pathogenic | 208,554 |
Is the variant located on chromosome 13 at position 32332465, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | AAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGA... | AAGCACTTTATGGCTTCTTTTTGGCATATTTGAATTGCCAGCATCATTATACTTGTGCTTTGGGGCCATTGTTAAGTAAAATAAGGGTGACTTGAACACAAGCACTGTGGTACCACAATAGCCGATCTGATAACCAAGACAACTACTAAGTGACTAATAGGTGGGTACCATATACAGCCTGGATACGCTGGACAAAGGGATGATTCATGTCCCAAGTGGGATGGAGCAAGATGGTGCAAGTTTTTTTTTCTCCATTTCCATTTTCCTTTCCTAAGATTTCCACATCCTAGTGGTGCAAGATTTCATCACACTACTCAGGA... | pathogenic | 208,555 |
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