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
Benign or pathogenic: chromosome 13, position 32333278, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome']
TTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGT...
TTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGT...
pathogenic
208,988
Evaluate if the mutation on chromosome 13 at position 32333281 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm']
GTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAG...
GTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAG...
pathogenic
208,989
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32333283: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['BRCA2-related_cancer_predisposition', 'BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Breast_carcinoma', 'Carcinoma_of_pancreas', 'Familial_cancer_of_breast', 'Familial_prostate_can...
AGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGAC...
AGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGAC...
pathogenic
208,992
For chromosome 13, position 32333283, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_D1', 'Gastric_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGAC...
AGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGAC...
pathogenic
208,993
Does the chromosome 13 mutation at position 32333289 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']
GGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTC...
GGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTC...
pathogenic
208,996
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32333290: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
GCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCT...
GCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCT...
pathogenic
208,997
Is the genetic change at chromosome 13, position 32333292, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome']
ATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCA...
ATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCA...
pathogenic
208,999
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32333295, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATG...
TCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATG...
pathogenic
209,000
Is the genetic change at chromosome 13, position 32333296, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast']
CACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGG...
CACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGG...
pathogenic
209,002
Benign or pathogenic: chromosome 13, position 32333308, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAA...
CAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAA...
pathogenic
209,007
Is the genetic change at chromosome 13, position 32333309, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome']
AGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAA...
AGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAA...
pathogenic
209,008
Evaluate this variant at chromosome 13, position 32333310, 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']
GGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAAC...
GGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAAC...
pathogenic
209,011
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32333315—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
GTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATT...
GTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATT...
pathogenic
209,015
Is the genetic change at chromosome 13, position 32333318, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGA...
TCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGA...
pathogenic
209,017
Clinically, how would you classify the variant at chromosome 13, position 32333322, 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']
ATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTC...
ATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTC...
pathogenic
209,018
Is the genetic variant on chromosome 13, position 32333323, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCG...
TGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCG...
pathogenic
209,020
For chromosome 13, position 32333328, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast']
GTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGAC...
GTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGAC...
pathogenic
209,022
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32333328—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGAC...
GTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGAC...
pathogenic
209,024
Clinically, how would you classify the variant at chromosome 13, position 32333330, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast']
GAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAG...
GAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAG...
pathogenic
209,027
Does the chromosome 13 mutation at position 32333330 within gene BRCA2 (BRCA2 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome']
GAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAG...
GAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAG...
pathogenic
209,028
Assess the variant on chromosome 13, position 32333331, 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']
AGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGT...
AGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGT...
pathogenic
209,029
Determine whether the variant at chromosome 13, position 32333332, 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']
GCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTA...
GCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTA...
pathogenic
209,030
Chromosome 13, position 32333332, 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']
GCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTA...
GCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTA...
pathogenic
209,031
Clinically, how would you classify the variant at chromosome 13, position 32333342, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACT...
CCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACT...
pathogenic
209,033
A mutation at chromosome position 32333358 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']
TTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTA...
TTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTA...
pathogenic
209,036
A genetic variant at chromosome 13, position 32333363, 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']
AATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAA...
AATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAA...
pathogenic
209,038
Variant at chromosome 13, position 32333365, 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', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATA...
TTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATA...
pathogenic
209,040
For chromosome 13, position 32333365, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome']
TTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATA...
TTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATA...
pathogenic
209,041
Does the genetic variant at chromosome 13, position 32333365, impacting gene BRCA2 (BRCA2 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome']
TTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATA...
TTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATA...
pathogenic
209,042
Considering the genetic mutation at chromosome 13, position 32333365, 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']
TTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATA...
TTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATA...
pathogenic
209,043
Does the genetic variant at chromosome 13, position 32333366, impacting gene BRCA2 (BRCA2 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_prostate', 'Medulloblastoma', 'Pancreatic_c...
TGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATAT...
TGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATAT...
pathogenic
209,044
Variant on chromosome 13, at position 32333368, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGT...
GCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGT...
pathogenic
209,047
Considering the genetic mutation at chromosome 13, position 32333376, 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']
GAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGA...
GAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGA...
pathogenic
209,049
Located at chromosome 13 position 32333378, 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']
AGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGACA...
AGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGACA...
pathogenic
209,050
Evaluate if the mutation on chromosome 13 at position 32333378 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast']
AGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGACA...
AGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGACA...
pathogenic
209,051
Evaluate if the mutation on chromosome 13 at position 32333382 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
TTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGACACAAA...
TTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGACACAAA...
pathogenic
209,053
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32333382, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
TTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGACACAAA...
TTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGACACAAA...
pathogenic
209,054
Does the chromosome 13 mutation at position 32333385 within gene BRCA2 (BRCA2 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome']
CTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGACACAAAAAC...
CTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGACACAAAAAC...
pathogenic
209,056
Assess the variant on chromosome 13, position 32333394, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
benign
TCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGACACAAAAACAAAGCCTAT...
TCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGACACAAAAACAAAGCCTAT...
benign
209,059
Clinically, how would you classify the variant at chromosome 13, position 32333398, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es).
benign
AAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGACACAAAAACAAAGCCTATTGAA...
AAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGACACAAAAACAAAGCCTATTGAA...
benign
209,061
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32333398—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
benign
AAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGACACAAAAACAAAGCCTATTGAA...
AAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGACACAAAAACAAAGCCTATTGAA...
benign
209,062
Evaluate this variant at chromosome 13, position 32333398, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)?
benign
AAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGACACAAAAACAAAGCCTATTGAA...
AAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGACACAAAAACAAAGCCTATTGAA...
benign
209,063
Mutation at chromosome 13, position 32333398, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s).
benign
AAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGACACAAAAACAAAGCCTATTGAA...
AAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGACACAAAAACAAAGCCTATTGAA...
benign
209,064
Considering the genetic mutation at chromosome 13, position 32333478, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
benign
TGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGACACAAAAACAAAGCCTATTGAAAATTTTCAGAGACAATAAGATATATAATTAACAAAATCTGAGCTTTTTTTTTTTCTAATTAGAAAGTAAATGTGGTTTAG...
TGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAGAGTGAGACCGTGTCTCAATGGAAAAAAAGAGAAACTAATTTGATTTCGATGACAGTATTTAAATACTGTGTAAGACAGTACTATTTAATATGTGGTTGTGACACAAAAACAAAGCCTATTGAAAATTTTCAGAGACAATAAGATATATAATTAACAAAATCTGAGCTTTTTTTTTTTCTAATTAGAAAGTAAATGTGGTTTAG...
benign
209,066
Evaluate if the mutation on chromosome 13 at position 32334687 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic?
benign
TGTACCGTCTTTGGCCTGTGAATGGTCTCAACTAACCCTTTCAGGTCTAAATGGAGCCCAGATGGAGAAAATACCCCTATTGCATATTTCTTCATGTGACCAAAATATTTCAGAAAAAGACCTATTAGACACAGAGAACAAAAGAAAGAAAGATTTTCTTACTTCAGAGAATTCTTTGCCACGTATTTCTAGCCTACCAAAATCAGAGAAGCCATTAAATGAGGAAACAGTGGTAAATAAGAGAGATGAAGAGCAGCATCTTGAATCTCATACAGACTGCATTCTTGCAGTAAAGCAGGCAATATCTGGAACTTCTCCAG...
TGTACCGTCTTTGGCCTGTGAATGGTCTCAACTAACCCTTTCAGGTCTAAATGGAGCCCAGATGGAGAAAATACCCCTATTGCATATTTCTTCATGTGACCAAAATATTTCAGAAAAAGACCTATTAGACACAGAGAACAAAAGAAAGAAAGATTTTCTTACTTCAGAGAATTCTTTGCCACGTATTTCTAGCCTACCAAAATCAGAGAAGCCATTAAATGAGGAAACAGTGGTAAATAAGAGAGATGAAGAGCAGCATCTTGAATCTCATACAGACTGCATTCTTGCAGTAAAGCAGGCAATATCTGGAACTTCTCCAG...
benign
209,074
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32335140: benign or pathogenic? What disease(s) does it cause if pathogenic?
benign
TGGACTGGAAATACATACTGTTTGCTCACAGAAGGAGGACTCCTTATGTCCAAATTTAATTGATAATGGAAGCTGGCCAGCCACCACCACACAGAATTCTGTAGCTTTGAAGAATGCAGGTTTAATATCCACTTTGAAAAAGAAAACAAATAAGTTTATTTATGCTATACATGATGAAACATCTTATAAAGGAAAAAAAATACCGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCCAGTTTGAAGCAAATGCTTTTGAAGCACCACTTACATTTGCAAATGCTGATTCAGGTACCTCTGTCTTTTTTTTTTTGT...
TGGACTGGAAATACATACTGTTTGCTCACAGAAGGAGGACTCCTTATGTCCAAATTTAATTGATAATGGAAGCTGGCCAGCCACCACCACACAGAATTCTGTAGCTTTGAAGAATGCAGGTTTAATATCCACTTTGAAAAAGAAAACAAATAAGTTTATTTATGCTATACATGATGAAACATCTTATAAAGGAAAAAAAATACCGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCCAGTTTGAAGCAAATGCTTTTGAAGCACCACTTACATTTGCAAATGCTGATTCAGGTACCTCTGTCTTTTTTTTTTTGT...
benign
209,075
Chromosome 13, position 32335828, gene BRCA2 (BRCA2 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
benign
CCTCCTGACAGACCCTAGTGTGTGTTGTTCCCCTCCCTGTGTCCGTGTGTTCTCATTGTTCAGCTCCCACTTATGAGTGAGAACATGTGATGTTTAGTTTTCTGTTCCTGCATTAGTTTGCTTAGGATAATGGCTTCCAGCTCCATCTGTGTCCCTGCAAAGGACGTGATCTTGTTCCTTTTTATGGCTACATGGTATTCCATGGTGTATAGTTCCACATTTTATTTATCCAGTCTATCATTGATGGGCATTTGGGTTGATTCCATGTCTGTGCTATTGTGAATAGTGCTGCAGTGAATGTACAGGTGGATGTATCTTTA...
CCTCCTGACAGACCCTAGTGTGTGTTGTTCCCCTCCCTGTGTCCGTGTGTTCTCATTGTTCAGCTCCCACTTATGAGTGAGAACATGTGATGTTTAGTTTTCTGTTCCTGCATTAGTTTGCTTAGGATAATGGCTTCCAGCTCCATCTGTGTCCCTGCAAAGGACGTGATCTTGTTCCTTTTTATGGCTACATGGTATTCCATGGTGTATAGTTCCACATTTTATTTATCCAGTCTATCATTGATGGGCATTTGGGTTGATTCCATGTCTGTGCTATTGTGAATAGTGCTGCAGTGAATGTACAGGTGGATGTATCTTTA...
benign
209,080
Regarding the variant found on chromosome 13 at position 32336274 in gene BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CATTCCAGCCAACAACTTGAGACAGTTTTTGACTCATAAACATTCAGAGCTTGGCTAGCTAATTCCTGCTTTAATTTAAAAAGTGTTTATTATATGCAAATTGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATG...
CATTCCAGCCAACAACTTGAGACAGTTTTTGACTCATAAACATTCAGAGCTTGGCTAGCTAATTCCTGCTTTAATTTAAAAAGTGTTTATTATATGCAAATTGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATG...
pathogenic
209,093
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32336277—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
TCCAGCCAACAACTTGAGACAGTTTTTGACTCATAAACATTCAGAGCTTGGCTAGCTAATTCCTGCTTTAATTTAAAAAGTGTTTATTATATGCAAATTGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTT...
TCCAGCCAACAACTTGAGACAGTTTTTGACTCATAAACATTCAGAGCTTGGCTAGCTAATTCCTGCTTTAATTTAAAAAGTGTTTATTATATGCAAATTGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTT...
pathogenic
209,094
Determine if the mutation at chromosome 13, position 32336277 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']
TCCAGCCAACAACTTGAGACAGTTTTTGACTCATAAACATTCAGAGCTTGGCTAGCTAATTCCTGCTTTAATTTAAAAAGTGTTTATTATATGCAAATTGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTT...
TCCAGCCAACAACTTGAGACAGTTTTTGACTCATAAACATTCAGAGCTTGGCTAGCTAATTCCTGCTTTAATTTAAAAAGTGTTTATTATATGCAAATTGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTT...
pathogenic
209,095
Is the genetic mutation found on chromosome 13 at position 32336283, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Inherited_breast_cancer_and_ovarian_cancer', 'Malignant_tumor_of_breast']
CAACAACTTGAGACAGTTTTTGACTCATAAACATTCAGAGCTTGGCTAGCTAATTCCTGCTTTAATTTAAAAAGTGTTTATTATATGCAAATTGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATG...
CAACAACTTGAGACAGTTTTTGACTCATAAACATTCAGAGCTTGGCTAGCTAATTCCTGCTTTAATTTAAAAAGTGTTTATTATATGCAAATTGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATG...
pathogenic
209,097
Chromosome 13, position 32336284, 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']
AACAACTTGAGACAGTTTTTGACTCATAAACATTCAGAGCTTGGCTAGCTAATTCCTGCTTTAATTTAAAAAGTGTTTATTATATGCAAATTGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGT...
AACAACTTGAGACAGTTTTTGACTCATAAACATTCAGAGCTTGGCTAGCTAATTCCTGCTTTAATTTAAAAAGTGTTTATTATATGCAAATTGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGT...
pathogenic
209,098
Clinical significance of chromosome 13, position 32336297, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AGTTTTTGACTCATAAACATTCAGAGCTTGGCTAGCTAATTCCTGCTTTAATTTAAAAAGTGTTTATTATATGCAAATTGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAG...
AGTTTTTGACTCATAAACATTCAGAGCTTGGCTAGCTAATTCCTGCTTTAATTTAAAAAGTGTTTATTATATGCAAATTGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAG...
pathogenic
209,101
Evaluate this variant at chromosome 13, position 32336317, 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']
TCAGAGCTTGGCTAGCTAATTCCTGCTTTAATTTAAAAAGTGTTTATTATATGCAAATTGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATC...
TCAGAGCTTGGCTAGCTAATTCCTGCTTTAATTTAAAAAGTGTTTATTATATGCAAATTGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATC...
pathogenic
209,109
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32336333, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
TAATTCCTGCTTTAATTTAAAAAGTGTTTATTATATGCAAATTGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGA...
TAATTCCTGCTTTAATTTAAAAAGTGTTTATTATATGCAAATTGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGA...
pathogenic
209,114
Is the genetic variant on chromosome 13, position 32336336, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome']
TTCCTGCTTTAATTTAAAAAGTGTTTATTATATGCAAATTGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTG...
TTCCTGCTTTAATTTAAAAAGTGTTTATTATATGCAAATTGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTG...
pathogenic
209,117
Variant at chromosome position 32336340, 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', 'Carcinoma_of_pancreas']
TGCTTTAATTTAAAAAGTGTTTATTATATGCAAATTGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGC...
TGCTTTAATTTAAAAAGTGTTTATTATATGCAAATTGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGC...
pathogenic
209,119
Variant at chromosome position 32336344, chromosome 13, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TTAATTTAAAAAGTGTTTATTATATGCAAATTGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCA...
TTAATTTAAAAAGTGTTTATTATATGCAAATTGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCA...
pathogenic
209,120
Assess the variant on chromosome 13, position 32336375, 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']
TGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGC...
TGGACAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGC...
pathogenic
209,126
Evaluate the clinical significance of the mutation at chromosome 13, position 32336379 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']
CAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGG...
CAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGG...
pathogenic
209,128
Mutation at chromosome 13, position 32336379, 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']
CAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGG...
CAACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGG...
pathogenic
209,129
Does the chromosome 13 mutation at position 32336380 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']
AACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGG...
AACTCATATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGG...
pathogenic
209,131
Is the genetic mutation found on chromosome 13 at position 32336386, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome']
TATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAA...
TATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAA...
pathogenic
209,133
Clinical classification of chromosome 13, position 32336387, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome']
ATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAA...
ATAAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAA...
pathogenic
209,134
The genetic variant at chromosome 13, position 32336389, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAAT...
AAATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAAT...
pathogenic
209,135
Located at chromosome 13 position 32336391, 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']
ATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGA...
ATATGTGGTGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGA...
pathogenic
209,136
Chromosome 13, position 32336399, 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']
TGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGT...
TGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGT...
pathogenic
209,138
Regarding the variant found on chromosome 13 at position 32336399 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']
TGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGT...
TGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGT...
pathogenic
209,139
Evaluate the clinical significance of the mutation at chromosome 13, position 32336399 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGT...
TGCTACTTACTATGTATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGT...
pathogenic
209,140
Variant on chromosome 13, at position 32336413, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_neoplasm', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-p...
TATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAA...
TATTTTCTCTAAAGCATGTTAAAAAAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAA...
pathogenic
209,144
Variant at chromosome position 32336437, 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']
AAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGA...
AAATAGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGA...
pathogenic
209,147
Does the genetic variant at chromosome 13, position 32336441, impacting gene BRCA2 (BRCA2 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome']
AGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAA...
AGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAA...
pathogenic
209,148
A genetic alteration at chromosome 13, position 32336441, 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']
AGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAA...
AGGCTAGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAA...
pathogenic
209,150
Benign or pathogenic: chromosome 13, position 32336446, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACT...
AGATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACT...
pathogenic
209,152
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32336448, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome']
ATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAG...
ATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAG...
pathogenic
209,154
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32336448—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']
ATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAG...
ATATAGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAG...
pathogenic
209,155
A mutation at chromosome position 32336452 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAA...
AGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAA...
pathogenic
209,159
Regarding the variant at chromosome 13 and position 32336452, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'likely other unspecified diseases']
AGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAA...
AGTGGCTCATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAA...
pathogenic
209,160
Regarding the variant found on chromosome 13 at position 32336459 in gene BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome']
CATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAAT...
CATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAAT...
pathogenic
209,163
Determine whether the variant at chromosome 13, position 32336459, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAAT...
CATGCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAAT...
pathogenic
209,164
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32336462, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome']
GCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTA...
GCCTGTAATCTTAGCACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTA...
pathogenic
209,165
Determine whether the variant at chromosome 13, position 32336476, 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']
CACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAA...
CACTTTGGGAGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAA...
pathogenic
209,168
Benign or pathogenic: chromosome 13, position 32336485, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTT...
AGGCTAAGGCAGGAGGATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTT...
pathogenic
209,172
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32336501, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome']
ATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTA...
ATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTA...
pathogenic
209,181
Determine whether the variant at chromosome 13, position 32336501, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
ATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTA...
ATCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTA...
pathogenic
209,183
A genetic variant on chromosome 13, position 32336502, 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', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome']
TCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTAC...
TCACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTAC...
pathogenic
209,184
Mutation at chromosome 13, position 32336504, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_prostate', 'Medulloblastoma', 'Pancreatic_c...
ACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACAT...
ACTTATGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACAT...
pathogenic
209,185
Mutation found at chromosome 13 position 32336509, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
TGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTT...
TGGTCAGGAGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTT...
pathogenic
209,187
Is the variant located on chromosome 13 at position 32336517, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome']
AGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAAT...
AGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAAT...
pathogenic
209,189
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32336517: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAAT...
AGTTTAAGAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAAT...
pathogenic
209,190
Evaluate the clinical significance of the mutation at chromosome 13, position 32336524 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', 'Breast_neoplasm', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAA...
GAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAA...
pathogenic
209,192
Does the genetic variant at chromosome 13, position 32336524, impacting gene BRCA2 (BRCA2 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s).
pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAA...
GAACACCCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAA...
pathogenic
209,193
Chromosome 13, position 32336530, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome']
CCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTG...
CCTGGGCAACATAGCGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTG...
pathogenic
209,197
Considering the variant on chromosome 13, location 32336544, 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']
CGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGC...
CGAGACCCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGC...
pathogenic
209,200
Determine whether the variant at chromosome 13, position 32336550, 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']
CCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATT...
CCCATCTCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATT...
pathogenic
209,201
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32336556—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
TCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCA...
TCTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCA...
pathogenic
209,205
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32336557—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2']
CTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCAT...
CTACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCAT...
pathogenic
209,206
Is the variant located on chromosome 13 at position 32336558, 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']
TACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATC...
TACAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATC...
pathogenic
209,207
Regarding the variant found on chromosome 13 at position 32336560 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']
CAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTC...
CAAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTC...
pathogenic
209,209
Determine whether the variant at chromosome 13, position 32336561, 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']
AAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCC...
AAAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCC...
pathogenic
209,210