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
Chromosome 13, position 32376686, gene BRCA2 (BRCA2 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
ATAAGATCCTCATCTCCATCTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTC...
ATAAGATCCTCATCTCCATCTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTC...
pathogenic
213,091
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32376691, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
ATCCTCATCTCCATCTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGT...
ATCCTCATCTCCATCTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGT...
pathogenic
213,095
Mutation found at chromosome 13 position 32376705, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
CTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGG...
CTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGG...
pathogenic
213,101
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32376709: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGG...
GACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGG...
pathogenic
213,103
Does the chromosome 13 mutation at position 32376712 within gene BRCA2 (BRCA2 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCT...
CACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCT...
pathogenic
213,104
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32376716—is it benign or pathogenic? If pathogenic, specify the disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast']
TCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCTCAGG...
TCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCTCAGG...
pathogenic
213,108
Mutation found at chromosome 13 position 32376732, 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']
TGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCTCAGGAAACTTACAATCATAG...
TGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCTCAGGAAACTTACAATCATAG...
pathogenic
213,113
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32376742: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
ACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCTCAGGAAACTTACAATCATAGTGGAAGATGA...
ACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCTCAGGAAACTTACAATCATAGTGGAAGATGA...
pathogenic
213,117
Regarding the variant at chromosome 13 and position 32376742, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome']
ACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCTCAGGAAACTTACAATCATAGTGGAAGATGA...
ACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCTCAGGAAACTTACAATCATAGTGGAAGATGA...
pathogenic
213,118
For chromosome 13, position 32376747, 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']
CAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCTCAGGAAACTTACAATCATAGTGGAAGATGAAGGAG...
CAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCTCAGGAAACTTACAATCATAGTGGAAGATGAAGGAG...
pathogenic
213,120
Is the genetic variant on chromosome 13, position 32376749, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
GAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCTCAGGAAACTTACAATCATAGTGGAAGATGAAGGAGAA...
GAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCTCAGGAAACTTACAATCATAGTGGAAGATGAAGGAGAA...
pathogenic
213,121
Is the genetic mutation found on chromosome 13 at position 32376753, 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']
TTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCTCAGGAAACTTACAATCATAGTGGAAGATGAAGGAGAAGCAA...
TTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCTCAGGAAACTTACAATCATAGTGGAAGATGAAGGAGAAGCAA...
pathogenic
213,123
Is chromosome 13, position 32376760, 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']
AAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCTCAGGAAACTTACAATCATAGTGGAAGATGAAGGAGAAGCAAGTACCTT...
AAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCTCAGGAAACTTACAATCATAGTGGAAGATGAAGGAGAAGCAAGTACCTT...
pathogenic
213,126
The chromosome 13, position 32376766 genetic variant in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome']
ATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCTCAGGAAACTTACAATCATAGTGGAAGATGAAGGAGAAGCAAGTACCTTCTTCAC...
ATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCTCAGGAAACTTACAATCATAGTGGAAGATGAAGGAGAAGCAAGTACCTTCTTCAC...
pathogenic
213,130
Variant at chromosome position 32376780, chromosome 13, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCTCAGGAAACTTACAATCATAGTGGAAGATGAAGGAGAAGCAAGTACCTTCTTCACAAGGTGGCAGGAAA...
TAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCTCAGGAAACTTACAATCATAGTGGAAGATGAAGGAGAAGCAAGTACCTTCTTCACAAGGTGGCAGGAAA...
pathogenic
213,134
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32376809—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
benign
CTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCTCAGGAAACTTACAATCATAGTGGAAGATGAAGGAGAAGCAAGTACCTTCTTCACAAGGTGGCAGGAAAGAGAGTACAGGGAGAACTCTCACTTTTAA...
CTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGATTCACAGTTCCACATGGCTGGGGAGGCCTCAGGAAACTTACAATCATAGTGGAAGATGAAGGAGAAGCAAGTACCTTCTTCACAAGGTGGCAGGAAAGAGAGTACAGGGAGAACTCTCACTTTTAA...
benign
213,147
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32377590—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
benign
TATTCTTTATAAGACATGTTTCTTTTTTTTTTTTTTGAGATGGAGTTTCGCACTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACAGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAGTAGCTAGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCACGAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCGTACCCGGCAAG...
TATTCTTTATAAGACATGTTTCTTTTTTTTTTTTTTGAGATGGAGTTTCGCACTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACAGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGGAGTAGCTAGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCACGAACTCCGGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCGTACCCGGCAAG...
benign
213,159
Evaluate the clinical significance of the mutation at chromosome 13, position 32379315 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_cancer-predisposing_syndrome']
GCACTCTCATTTTATTAGCAAAGTAAATGACAATAAAATAGCTGGCCAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCG...
GCACTCTCATTTTATTAGCAAAGTAAATGACAATAAAATAGCTGGCCAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCG...
pathogenic
213,172
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32379315 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']
GCACTCTCATTTTATTAGCAAAGTAAATGACAATAAAATAGCTGGCCAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCG...
GCACTCTCATTTTATTAGCAAAGTAAATGACAATAAAATAGCTGGCCAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCG...
pathogenic
213,175
A genetic variant at chromosome 13, position 32379316, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CACTCTCATTTTATTAGCAAAGTAAATGACAATAAAATAGCTGGCCAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGT...
CACTCTCATTTTATTAGCAAAGTAAATGACAATAAAATAGCTGGCCAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGT...
pathogenic
213,178
Regarding the variant found on chromosome 13 at position 32379321 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']
TCATTTTATTAGCAAAGTAAATGACAATAAAATAGCTGGCCAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAA...
TCATTTTATTAGCAAAGTAAATGACAATAAAATAGCTGGCCAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAA...
pathogenic
213,180
Regarding the variant found on chromosome 13 at position 32379324 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']
TTTTATTAGCAAAGTAAATGACAATAAAATAGCTGGCCAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAA...
TTTTATTAGCAAAGTAAATGACAATAAAATAGCTGGCCAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAA...
pathogenic
213,182
Regarding the variant found on chromosome 13 at position 32379349 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']
AAAATAGCTGGCCAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGG...
AAAATAGCTGGCCAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGG...
pathogenic
213,190
Evaluate if the mutation on chromosome 13 at position 32379352 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome']
ATAGCTGGCCAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGT...
ATAGCTGGCCAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGT...
pathogenic
213,191
Clinical classification of chromosome 13, position 32379358, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
GGCCAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATG...
GGCCAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATG...
pathogenic
213,193
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32379361—is it benign or pathogenic? If pathogenic, specify the disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
CAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTG...
CAGGCGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTG...
pathogenic
213,195
Is the genetic variant on chromosome 13, position 32379365, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTT...
CGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTT...
pathogenic
213,196
Is the genetic change at chromosome 13, position 32379376, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_prostate', 'Medulloblastoma', 'Melanoma,_cu...
ACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATA...
ACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATA...
pathogenic
213,200
Does the chromosome 13 mutation at position 32379376 within gene BRCA2 (BRCA2 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
ACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATA...
ACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATA...
pathogenic
213,201
Is the genetic variant on chromosome 13, position 32379379, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome']
CCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAAT...
CCTATAATCCCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAAT...
pathogenic
213,202
Is the genetic variant on chromosome 13, position 32379388, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
CCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATAT...
CCAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATAT...
pathogenic
213,205
Is the variant located on chromosome 13 at position 32379389, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
CAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATA...
CAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATA...
pathogenic
213,206
Located at chromosome 13 position 32379389, the variant affecting gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATA...
CAGCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATA...
pathogenic
213,208
Mutation at chromosome 13, position 32379391, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
GCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAA...
GCACTTTGGGAGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAA...
pathogenic
213,210
A mutation at chromosome position 32379401 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']
AGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATAT...
AGACCGAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATAT...
pathogenic
213,216
Mutation at chromosome 13, position 32379406, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
GAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATG...
GAGGCAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATG...
pathogenic
213,217
A mutation at chromosome position 32379410 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']
CAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAG...
CAGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAG...
pathogenic
213,218
Mutation at chromosome 13, position 32379411, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGT...
AGAAGGATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGT...
pathogenic
213,219
Mutation at chromosome 13, position 32379416, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTA...
GATCACCTGAGGTCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTA...
pathogenic
213,224
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32379428, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome']
TCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACAT...
TCGGGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACAT...
pathogenic
213,226
Benign or pathogenic: chromosome 13, position 32379431, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome']
GGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAAT...
GGAGTTCGTGACCAGCCTGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAAT...
pathogenic
213,227
Chromosome 13, position 32379448, 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']
TGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTAC...
TGGCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTAC...
pathogenic
213,234
Variant at chromosome 13, position 32379450, 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', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCT...
GCCAACGTGGTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCT...
pathogenic
213,235
Determine whether the variant at chromosome 13, position 32379459, 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']
GTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTT...
GTGAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTT...
pathogenic
213,239
Clinical significance of chromosome 13, position 32379461, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTT...
GAAACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTT...
pathogenic
213,241
Is the variant located on chromosome 13 at position 32379464, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Inherited_prostate_cancer', 'M...
ACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGA...
ACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGA...
pathogenic
213,243
Clinical significance of chromosome 13, position 32379464, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
ACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGA...
ACCCCGTCCCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGA...
pathogenic
213,244
Regarding the variant at chromosome 13 and position 32379472, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast']
CCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGA...
CCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGA...
pathogenic
213,250
Determine whether the variant at chromosome 13, position 32379472, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome']
CCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGA...
CCTATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGA...
pathogenic
213,251
A genetic alteration at chromosome 13, position 32379475, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
ATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAG...
ATTAAAAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAG...
pathogenic
213,253
The chromosome 13, position 32379480 genetic variant in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
AAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAA...
AAATACAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAA...
pathogenic
213,257
The genetic variant at chromosome 13, position 32379485, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAA...
CAAAATTAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAA...
pathogenic
213,260
Assess the variant on chromosome 13, position 32379491, 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', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAA...
TAGCCAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAA...
pathogenic
213,263
Does the genetic variant at chromosome 13, position 32379495, impacting gene BRCA2 (BRCA2 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s).
pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTC...
CAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTC...
pathogenic
213,267
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32379495, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome']
CAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTC...
CAGGCGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTC...
pathogenic
213,269
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32379499—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAG...
CGTGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAG...
pathogenic
213,271
A genetic variant on chromosome 13, position 32379501, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
TGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGAT...
TGGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGAT...
pathogenic
213,273
Is the genetic change at chromosome 13, position 32379502, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
GGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATT...
GGTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATT...
pathogenic
213,274
Variant at chromosome 13, position 32379503, gene BRCA2 (BRCA2 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTA...
GTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTA...
pathogenic
213,275
Is the genetic variant on chromosome 13, position 32379503, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
GTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTA...
GTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTA...
pathogenic
213,277
Is the variant located on chromosome 13 at position 32379503, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTA...
GTGCACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTA...
pathogenic
213,278
A genetic alteration at chromosome 13, position 32379506, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTT...
CACATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTT...
pathogenic
213,279
Considering the genetic mutation at chromosome 13, position 32379508, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
CATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTG...
CATGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTG...
pathogenic
213,280
Is the genetic variant on chromosome 13, position 32379510, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTT...
TGCCTGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTT...
pathogenic
213,281
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32379514, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome']
TGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGG...
TGTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGG...
pathogenic
213,285
Is the genetic change at chromosome 13, position 32379515, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic.
benign
GTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGA...
GTAATCCCAGCTGTTCGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGA...
benign
213,286
A mutation at chromosome position 32379530 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
benign
CGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATAT...
CGGGAGGCTCAGGCAGGAGAATCGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTAGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAGCTATTAAATGGGCGTAAAATGTTGTTTTAGGATCAAATAAATAATCTATATAAAAGTTCCATATAAATGTTAGTTACTATTATTAGAACATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATAT...
benign
213,290
Does the chromosome 13 mutation at position 32379745 within gene BRCA2 (BRCA2 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAA...
CATAATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAA...
pathogenic
213,297
Evaluate this variant at chromosome 13, position 32379749, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
ATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCT...
ATTTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCT...
pathogenic
213,299
Considering the variant on chromosome 13, location 32379751, involving gene BRCA2 (BRCA2 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGT...
TTTATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGT...
pathogenic
213,300
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32379753—is it benign or pathogenic? If pathogenic, specify the disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
TATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGA...
TATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGA...
pathogenic
213,301
The genetic variant at chromosome 13, position 32379753, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
TATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGA...
TATATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGA...
pathogenic
213,302
Evaluate this variant at chromosome 13, position 32379755, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma', 'Pancreatic_canc...
TATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGT...
TATATTAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGT...
pathogenic
213,304
Does the chromosome 13 mutation at position 32379760 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']
TAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACT...
TAAACTACCTCCTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACT...
pathogenic
213,307
A genetic variant on chromosome 13, position 32379771, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome']
CTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTC...
CTAAATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTC...
pathogenic
213,311
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32379775—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
ATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAA...
ATTTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAA...
pathogenic
213,317
Located at chromosome 13 position 32379777, the variant affecting gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
TTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAA...
TTTTAGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAA...
pathogenic
213,318
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32379781: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
AGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAA...
AGACAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAA...
pathogenic
213,319
The chromosome 13, position 32379784 genetic variant in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGC...
CAGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGC...
pathogenic
213,322
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32379785—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
AGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCT...
AGGTAGATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCT...
pathogenic
213,323
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32379791: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome']
ATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGA...
ATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGA...
pathogenic
213,325
Variant at chromosome position 32379791, chromosome 13, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['Hereditary_cancer-predisposing_syndrome']
ATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGA...
ATAGCTAAAAAAAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGA...
pathogenic
213,326
Assess the variant on chromosome 13, position 32379802, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['BRCA2-related_cancer_predisposition', 'Hereditary_breast_ovarian_cancer_syndrome']
AAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGA...
AAAATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGA...
pathogenic
213,331
A genetic variant at chromosome 13, position 32379804, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_neoplasm']
AATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAA...
AATTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAA...
pathogenic
213,333
Regarding the variant found on chromosome 13 at position 32379806 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']
TTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAA...
TTCAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAA...
pathogenic
213,334
Is the variant located on chromosome 13 at position 32379808, 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', 'Malignant_tumor_of_breast']
CAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATT...
CAAATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATT...
pathogenic
213,336
A mutation at chromosome position 32379810 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']
AATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTAT...
AATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTAT...
pathogenic
213,337
Is the genetic variant on chromosome 13, position 32379811, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
ATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATT...
ATTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATT...
pathogenic
213,338
Classify the chromosome 13 variant at position 32379812 affecting gene BRCA2 (BRCA2 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome']
TTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTT...
TTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTT...
pathogenic
213,339
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32379812—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome']
TTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTT...
TTCTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTT...
pathogenic
213,340
The genetic variant at chromosome 13, position 32379814, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
CTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGC...
CTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGC...
pathogenic
213,342
Classify the chromosome 13 variant at position 32379814 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', 'Familial_cancer_of_breast']
CTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGC...
CTAAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGC...
pathogenic
213,343
Chromosome 13, position 32379816, gene BRCA2 (BRCA2 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome']
AAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCT...
AAGATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCT...
pathogenic
213,346
Is the genetic variant on chromosome 13, position 32379818, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
GATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCT...
GATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCT...
pathogenic
213,347
Regarding the variant found on chromosome 13 at position 32379818 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', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
GATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCT...
GATTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCT...
pathogenic
213,348
Located at chromosome 13 position 32379820, the variant affecting gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTAT...
TTAGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTAT...
pathogenic
213,349
A mutation at chromosome position 32379822 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', 'Breast_carcinoma', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCT...
AGTTTGTTAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCT...
pathogenic
213,350
Clinical classification of chromosome 13, position 32379829, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
TAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAA...
TAGGGAGGAAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAA...
pathogenic
213,353
Is the genetic change at chromosome 13, position 32379837, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTT...
AAGGAGCAAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTT...
pathogenic
213,359
Considering the genetic mutation at chromosome 13, position 32379844, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
AAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAG...
AAATATTTTACCAAAACTACTTGTTTTTAATTGATTAATTTCATTCACTTGATGACTTAGTAAATCTTGTGAATATAGCCTTAAATTTCTTAAATAGTGGGACTACAAAATAAACAATATTTCATCAGTAATGTAAGCAGTGCTATACTGAGTAGAATTCCCTCCTGTTCCGAAATGTTACAATTTGGGTTCTCCCTGTGAGAAGTGAGTCCGGTTTTAAAACCTGTGAGTATACTTGCTGCAGGTCTGAAAATGAAGGCTTTATGATTCTTTCTTGAAAAATTATTTGCCTCTATCTTTTATAATATTATTTGTTGAAG...
pathogenic
213,361