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
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32356553, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTAC...
AGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTAC...
pathogenic
212,265
Clinical significance of chromosome 13, position 32356553, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
AGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTAC...
AGGTATTAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTAC...
pathogenic
212,266
A genetic alteration at chromosome 13, position 32356559, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCA...
TAGGCGGAGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCA...
pathogenic
212,269
Evaluate this variant at chromosome 13, position 32356566, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACT...
AGTAGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACT...
pathogenic
212,273
Considering the genetic mutation at chromosome 13, position 32356569, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome']
AGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACTTAT...
AGAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACTTAT...
pathogenic
212,274
A genetic variant at chromosome 13, position 32356570, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACTTATA...
GAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACTTATA...
pathogenic
212,275
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32356570 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Fanconi_anemia_complementation_group_D1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACTTATA...
GAGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACTTATA...
pathogenic
212,277
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32356571, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Malignant_tumor_of_breast']
AGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACTTATAT...
AGAGTTCAGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACTTATAT...
pathogenic
212,278
Considering the variant on chromosome 13, location 32356578, involving gene BRCA2 (BRCA2 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome']
AGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACTTATATATTTTCT...
AGGTGAAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACTTATATATTTTCT...
pathogenic
212,280
Does the variant on chromosome 13 at location 32356583 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
AAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACTTATATATTTTCTCCCCA...
AAGATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACTTATATATTTTCTCCCCA...
pathogenic
212,282
Is chromosome 13, position 32356585, 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']
GATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACTTATATATTTTCTCCCCATT...
GATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACTTATATATTTTCTCCCCATT...
pathogenic
212,284
Chromosome 13, position 32356586, 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']
ATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACTTATATATTTTCTCCCCATTG...
ATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACTTATATATTTTCTCCCCATTG...
pathogenic
212,285
Determine if the mutation at chromosome 13, position 32356586 in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
ATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACTTATATATTTTCTCCCCATTG...
ATGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACTTATATATTTTCTCCCCATTG...
pathogenic
212,286
Evaluate this variant at chromosome 13, position 32356587, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACTTATATATTTTCTCCCCATTGC...
TGTGAAGGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACTTATATATTTTCTCCCCATTGC...
pathogenic
212,287
Evaluate this variant at chromosome 13, position 32356593, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACTTATATATTTTCTCCCCATTGCAGCACA...
GGTGAGAGAAGAGGATGGGTAGACATTTCCCTGGTGAAGGAGGTAAGGAGTACTATGATGGAATTAGAGGGGACACACTGAGAGGGTCCACACTTGACAGACTCTCTTCTATTATGTGTTATGTGAGGTAGATTGTAAAGTCAAAGGCTAGCCTTGAAAAATGTGATATTGTTTTGGAATGGCAACCATGGTGAATACAAAACAGTTACCAGAATAGTATCACCATGTAGCAAATGAGGGTCTGCAACAAAGGCATATTCCTAAATATTTATATGTGTACTAGTCAATAAACTTATATATTTTCTCCCCATTGCAGCACA...
pathogenic
212,291
A genetic alteration at chromosome 13, position 32357725, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved?
benign
CATAGTGAAACCCTGTCTCTACTAAAAATACAAAATAAATAAATAAATAAATAAATAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCAT...
CATAGTGAAACCCTGTCTCTACTAAAAATACAAAATAAATAAATAAATAAATAAATAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCAT...
benign
212,310
Chromosome 13, position 32357727, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
benign
TAGTGAAACCCTGTCTCTACTAAAAATACAAAATAAATAAATAAATAAATAAATAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGT...
TAGTGAAACCCTGTCTCTACTAAAAATACAAAATAAATAAATAAATAAATAAATAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGT...
benign
212,311
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32357747, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome']
TAAAAATACAAAATAAATAAATAAATAAATAAATAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATA...
TAAAAATACAAAATAAATAAATAAATAAATAAATAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATA...
pathogenic
212,317
Considering the variant on chromosome 13, location 32357750, involving gene BRCA2 (BRCA2 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome']
AAATACAAAATAAATAAATAAATAAATAAATAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGT...
AAATACAAAATAAATAAATAAATAAATAAATAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGT...
pathogenic
212,319
Regarding the variant at chromosome 13 and position 32357753, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome']
TACAAAATAAATAAATAAATAAATAAATAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATA...
TACAAAATAAATAAATAAATAAATAAATAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATA...
pathogenic
212,323
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32357757 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast']
AAATAAATAAATAAATAAATAAATAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTT...
AAATAAATAAATAAATAAATAAATAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTT...
pathogenic
212,326
Determine if the mutation at chromosome 13, position 32357760 in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
TAAATAAATAAATAAATAAATAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTAT...
TAAATAAATAAATAAATAAATAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTAT...
pathogenic
212,328
Considering the genetic mutation at chromosome 13, position 32357762, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AATAAATAAATAAATAAATAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAA...
AATAAATAAATAAATAAATAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAA...
pathogenic
212,330
The genetic variant at chromosome 13, position 32357766, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AATAAATAAATAAATAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACA...
AATAAATAAATAAATAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACA...
pathogenic
212,331
Regarding the variant found on chromosome 13 at position 32357773 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']
AAATAAATAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTG...
AAATAAATAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTG...
pathogenic
212,334
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32357776, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TAAATAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGC...
TAAATAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGC...
pathogenic
212,336
Is the genetic variant on chromosome 13, position 32357780, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['BRCA2-related_disorder', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTT...
TAGCTGAGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTT...
pathogenic
212,337
Mutation found at chromosome 13 position 32357786, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
AGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTT...
AGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTT...
pathogenic
212,338
Benign or pathogenic: chromosome 13, position 32357786, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome']
AGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTT...
AGCGTGGTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTT...
pathogenic
212,339
The genetic variant at chromosome 13, position 32357792, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
GTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGA...
GTGGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGA...
pathogenic
212,342
Evaluate the clinical significance of the mutation at chromosome 13, position 32357794 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']
GGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACA...
GGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACA...
pathogenic
212,343
Variant at chromosome 13, position 32357794, gene BRCA2 (BRCA2 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome']
GGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACA...
GGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACA...
pathogenic
212,344
Mutation found at chromosome 13 position 32357794, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACA...
GGCAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACA...
pathogenic
212,345
Evaluate this variant at chromosome 13, position 32357796, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGA...
CAGGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGA...
pathogenic
212,347
Assess the variant on chromosome 13, position 32357798, 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']
GGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGT...
GGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGT...
pathogenic
212,348
Does the chromosome 13 mutation at position 32357798 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']
GGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGT...
GGCACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGT...
pathogenic
212,349
Evaluate this variant at chromosome 13, position 32357800, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTT...
CACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTT...
pathogenic
212,350
Located at chromosome 13 position 32357800, 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']
CACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTT...
CACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTT...
pathogenic
212,351
Considering the genetic mutation at chromosome 13, position 32357800, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTT...
CACCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTT...
pathogenic
212,352
Regarding the variant found on chromosome 13 at position 32357805 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']
GTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTC...
GTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTC...
pathogenic
212,354
Considering the genetic mutation at chromosome 13, position 32357806, 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']
TAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCT...
TAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCT...
pathogenic
212,356
A mutation at chromosome position 32357812 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGC...
CAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGC...
pathogenic
212,358
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32357820—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome']
TGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTG...
TGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTG...
pathogenic
212,361
Classify the chromosome 13 variant at position 32357828 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']
TGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAA...
TGAGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAA...
pathogenic
212,364
Variant at chromosome position 32357830, 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']
AGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATG...
AGGCAGGAGAATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATG...
pathogenic
212,365
Is the variant located on chromosome 13 at position 32357839, 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']
AATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCT...
AATCGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCT...
pathogenic
212,368
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32357842: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGG...
CGTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGG...
pathogenic
212,370
Considering the genetic mutation at chromosome 13, position 32357851, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCA...
CCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCA...
pathogenic
212,374
Mutation at chromosome 13, position 32357855, 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']
GAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCT...
GAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCT...
pathogenic
212,375
A mutation at chromosome position 32357858 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']
GCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCT...
GCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCT...
pathogenic
212,377
Clinically, how would you classify the variant at chromosome 13, position 32357862, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTC...
AGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTC...
pathogenic
212,378
A genetic variant on chromosome 13, position 32357866, 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']
TGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGA...
TGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGA...
pathogenic
212,381
For chromosome 13, position 32357873, 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']
AGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAG...
AGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAG...
pathogenic
212,383
Does the chromosome 13 mutation at position 32357881 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']
TCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAGTGATTCTC...
TCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAGTGATTCTC...
pathogenic
212,385
Regarding the variant at chromosome 13 and position 32357884, 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']
CGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAGTGATTCTCCTG...
CGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAGTGATTCTCCTG...
pathogenic
212,387
Evaluate the clinical significance of the mutation at chromosome 13, position 32357884 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']
CGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAGTGATTCTCCTG...
CGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAGTGATTCTCCTG...
pathogenic
212,388
Variant at chromosome position 32357885, chromosome 13, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAGTGATTCTCCTGC...
GCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAGTGATTCTCCTGC...
pathogenic
212,390
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32357886—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast']
CCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAGTGATTCTCCTGCC...
CCATTGCACTCCAGCCTGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAGTGATTCTCCTGCC...
pathogenic
212,391
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32357902—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
TGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTGCTGAATAG...
TGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTGCTGAATAG...
pathogenic
212,396
Considering the genetic mutation at chromosome 13, position 32357902, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome']
TGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTGCTGAATAG...
TGGGCAACAAGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTGCTGAATAG...
pathogenic
212,397
Chromosome 13, position 32357911, 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']
AGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTGCTGAATAGCTGGGATTA...
AGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTGCTGAATAGCTGGGATTA...
pathogenic
212,398
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32357911, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome']
AGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTGCTGAATAGCTGGGATTA...
AGAGTGAAAAACTCTGTCTCAAAAAGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTGCTGAATAGCTGGGATTA...
pathogenic
212,399
A genetic variant at chromosome 13, position 32357935, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
benign
AGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTGCTGAATAGCTGGGATTACAGGCATGTGCCACCACACCTGGC...
AGAGATAAAAATAGTAAAGATATTCATATTTATACAGCTTTACAAGTTGAAACATCCTTTCATTTATGAAGAATTAAAAGGGGTACCCTTTTTAGAGAAAAGGAGAGCATGTAAACTTCGAGGAAATTGATATGTATAATTTTATAAAACAGGGCTTGCGCTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAACCTCGGCTCACCGCAACCTCCTCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTGCTGAATAGCTGGGATTACAGGCATGTGCCACCACACCTGGC...
benign
212,406
Located at chromosome 13 position 32358476, the variant affecting gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
benign
ATTTAATTACAAGTCTTCAGAATGCCAGAGATATACAGGATATGCGAATTAAGAAGAAACAAAGGCAACGCGTCTTTCCACAGCCAGGCAGTCTGTATCTTGCAAAAACATCCACTCTGCCTCGAATCTCTCTGAAAGCAGCAGTAGGAGGCCAAGTTCCCTCTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGCTTTTATGACAGAGTGTAATTTTATTTCATTAACTAGTATCTACAAATGGCTTTGTTTAAAGAATGAACACATTAGTGCAGGAATGGATGAATGAAATCATCATATTTTCT...
ATTTAATTACAAGTCTTCAGAATGCCAGAGATATACAGGATATGCGAATTAAGAAGAAACAAAGGCAACGCGTCTTTCCACAGCCAGGCAGTCTGTATCTTGCAAAAACATCCACTCTGCCTCGAATCTCTCTGAAAGCAGCAGTAGGAGGCCAAGTTCCCTCTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGCTTTTATGACAGAGTGTAATTTTATTTCATTAACTAGTATCTACAAATGGCTTTGTTTAAAGAATGAACACATTAGTGCAGGAATGGATGAATGAAATCATCATATTTTCT...
benign
212,418
Evaluate this variant at chromosome 13, position 32362508, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)?
benign
AGCGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGCGCGCACCACCGTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCA...
AGCGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGCGCGCACCACCGTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCA...
benign
212,446
A mutation at chromosome position 32362520 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']
GCCTCAGCCTCCCGTGTAGCTGGGACTACAGGCGCGCACCACCGTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAG...
GCCTCAGCCTCCCGTGTAGCTGGGACTACAGGCGCGCACCACCGTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAG...
pathogenic
212,452
Variant at chromosome position 32362522, 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']
CTCAGCCTCCCGTGTAGCTGGGACTACAGGCGCGCACCACCGTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTG...
CTCAGCCTCCCGTGTAGCTGGGACTACAGGCGCGCACCACCGTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTG...
pathogenic
212,458
Clinically, how would you classify the variant at chromosome 13, position 32362527, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CCTCCCGTGTAGCTGGGACTACAGGCGCGCACCACCGTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATT...
CCTCCCGTGTAGCTGGGACTACAGGCGCGCACCACCGTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATT...
pathogenic
212,460
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32362532—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CGTGTAGCTGGGACTACAGGCGCGCACCACCGTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGG...
CGTGTAGCTGGGACTACAGGCGCGCACCACCGTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGG...
pathogenic
212,462
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32362535: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GTAGCTGGGACTACAGGCGCGCACCACCGTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAA...
GTAGCTGGGACTACAGGCGCGCACCACCGTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAA...
pathogenic
212,464
Mutation found at chromosome 13 position 32362538, 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']
GCTGGGACTACAGGCGCGCACCACCGTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCA...
GCTGGGACTACAGGCGCGCACCACCGTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCA...
pathogenic
212,466
Mutation at chromosome 13, position 32362545, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CTACAGGCGCGCACCACCGTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGAC...
CTACAGGCGCGCACCACCGTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGAC...
pathogenic
212,469
Does the chromosome 13 mutation at position 32362550 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']
GGCGCGCACCACCGTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGG...
GGCGCGCACCACCGTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGG...
pathogenic
212,472
Regarding the variant at chromosome 13 and position 32362558, 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', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CCACCGTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTT...
CCACCGTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTT...
pathogenic
212,475
Considering the genetic mutation at chromosome 13, position 32362560, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
ACCGTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGA...
ACCGTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGA...
pathogenic
212,477
Is chromosome 13, position 32362563, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAG...
GTGCCCGGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAG...
pathogenic
212,478
Clinical significance of chromosome 13, position 32362569, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome']
GGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCAC...
GGCTGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCAC...
pathogenic
212,479
Variant at chromosome position 32362572, 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']
TGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTAT...
TGATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTAT...
pathogenic
212,480
Assess the variant on chromosome 13, position 32362575, 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']
TTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAG...
TTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAG...
pathogenic
212,483
Determine whether the variant at chromosome 13, position 32362580, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTT...
GTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTT...
pathogenic
212,485
Clinical significance of chromosome 13, position 32362586, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
TTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAA...
TTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAA...
pathogenic
212,488
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32362593 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome']
AGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAG...
AGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAG...
pathogenic
212,492
Considering the variant on chromosome 13, location 32362594, 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']
GACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGA...
GACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGA...
pathogenic
212,494
Classify the chromosome 13 variant at position 32362600 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']
GTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAA...
GTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAA...
pathogenic
212,500
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32362604: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
CACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGT...
CACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGT...
pathogenic
212,503
Chromosome 13, position 32362611, gene BRCA2 (BRCA2 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAG...
TTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAG...
pathogenic
212,505
Does the variant on chromosome 13 at location 32362616 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGA...
CAGGTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGA...
pathogenic
212,507
Clinically, how would you classify the variant at chromosome 13, position 32362619, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAA...
GTTGGTCTCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAA...
pathogenic
212,508
For chromosome 13, position 32362626, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAAT...
TCAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAAT...
pathogenic
212,511
A genetic variant at chromosome 13, position 32362627, 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']
CAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATG...
CAAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATG...
pathogenic
212,512
Clinical classification of chromosome 13, position 32362628, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
AAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGG...
AAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGG...
pathogenic
212,513
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32362628—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
AAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGG...
AAACTCCTGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGG...
pathogenic
212,514
Variant chromosome 13, position 32362635, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome']
TGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAA...
TGACCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAA...
pathogenic
212,515
Evaluate if the mutation on chromosome 13 at position 32362638 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
CCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGAT...
CCTCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGAT...
pathogenic
212,517
A genetic alteration at chromosome 13, position 32362640, 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']
TCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTT...
TCAGGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTT...
pathogenic
212,518
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32362650 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Me...
CCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGC...
CCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGC...
pathogenic
212,522
Mutation found at chromosome 13 position 32362650, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome']
CCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGC...
CCCTCCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGC...
pathogenic
212,523
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32362654, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
CCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCT...
CCTCGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCT...
pathogenic
212,524
Variant at chromosome position 32362657, 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']
CGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGA...
CGGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGA...
pathogenic
212,527
Variant chromosome 13, position 32362660, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGG...
CCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACTGTGTCCAGCCTGATCTGACTTATTTTTGAAAAAATAATTCTGGCTGTTTGTTGAGGAGAGGGGCAAAGATGGACACACAGAGACCACTTAAGCTATTGCAGAAATACATGTGAGAGGTGGTTGGTTGGACCAGGGAAGTGGCAGTGGAATTGGTGGAAAGCAGTTGGACTCTGGGGTATTTTGAAAGTGGCACTATTAGGAGTTGCTCAAGGATTAGATATAAAACGTGAGAGAGGAGGAGAATAAGAATGGCTGTGAAGATTTTGGCCTTAGCAGCTGGAAGG...
pathogenic
212,530