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 |
|---|---|---|---|---|---|
Is the genetic change at chromosome 13, position 32336562, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCG... | AAAAATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCG... | pathogenic | 209,211 |
The chromosome 13, position 32336566 genetic variant in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGT... | ATTTAAAATACCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGT... | pathogenic | 209,213 |
Does the variant on chromosome 13 at location 32336576 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | CCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGT... | CCCAGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGT... | pathogenic | 209,218 |
Mutation at chromosome 13, position 32336579, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCT... | AGGCATGGTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCT... | pathogenic | 209,220 |
A genetic alteration at chromosome 13, position 32336586, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTT... | GTGGCATGCTTCTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTT... | pathogenic | 209,225 |
Does the variant on chromosome 13 at location 32336597 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGT... | CTGATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGT... | pathogenic | 209,229 |
Determine if the mutation at chromosome 13, position 32336599 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'] | GATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTC... | GATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTC... | pathogenic | 209,231 |
For chromosome 13, position 32336599, 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'] | GATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTC... | GATGTTGTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTC... | pathogenic | 209,232 |
A genetic alteration at chromosome 13, position 32336605, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAG... | GTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAG... | pathogenic | 209,236 |
A mutation at chromosome position 32336605 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAG... | GTAGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAG... | pathogenic | 209,237 |
Determine whether the variant at chromosome 13, position 32336607, 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', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCA... | AGCTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCA... | pathogenic | 209,238 |
Mutation found at chromosome 13 position 32336609, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAAC... | CTACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAAC... | pathogenic | 209,241 |
Regarding the variant at chromosome 13 and position 32336610, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | TACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACT... | TACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACT... | pathogenic | 209,242 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32336611, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Medulloblastoma', 'Pancreatic_cancer,_susceptibility_to,_2', 'Wilms_tumor_1'] | ACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTA... | ACTCAGGATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTA... | pathogenic | 209,244 |
Located at chromosome 13 position 32336618, 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'] | ATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTA... | ATGCTCAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTA... | pathogenic | 209,247 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32336623—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Kabuki_syndrome_1'] | CAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTT... | CAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTT... | pathogenic | 209,251 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32336623: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTT... | CAGACAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTT... | pathogenic | 209,252 |
Clinical classification of chromosome 13, position 32336627, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | CAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAA... | CAGGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAA... | pathogenic | 209,254 |
Does the genetic variant at chromosome 13, position 32336629, impacting gene BRCA2 (BRCA2 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAG... | GGAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAG... | pathogenic | 209,256 |
Is the genetic variant on chromosome 13, position 32336630, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Medulloblastoma', 'Pancreatic_cancer,_susceptibility_to,_2', 'Wilms_tumor_1'] | GAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGT... | GAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGT... | pathogenic | 209,257 |
Evaluate if the mutation on chromosome 13 at position 32336630 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_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGT... | GAGGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGT... | pathogenic | 209,258 |
Mutation at chromosome 13, position 32336632, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGA... | GGATCACTTGAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGA... | pathogenic | 209,259 |
Clinical significance of chromosome 13, position 32336641, 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'] | GAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTC... | GAGCCCAAGTGACTGAGGCTGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTC... | pathogenic | 209,265 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32336660 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGT... | TGCAGTGAACCAAAATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGT... | pathogenic | 209,269 |
A genetic variant on chromosome 13, position 32336673, 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'] | AATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTG... | AATTGTACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTG... | pathogenic | 209,272 |
Regarding the variant at chromosome 13 and position 32336678, 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'] | TACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAG... | TACCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAG... | pathogenic | 209,276 |
Is the genetic variant on chromosome 13, position 32336680, 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'] | CCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTA... | CCAGTGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTA... | pathogenic | 209,277 |
Chromosome 13, position 32336684, gene BRCA2 (BRCA2 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast', 'Malignant_tumor_of_prostate'] | TGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGT... | TGCACTCCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGT... | pathogenic | 209,279 |
Does the variant on chromosome 13 at location 32336690 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGA... | CCAGCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGA... | pathogenic | 209,280 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32336693—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGAC... | GCCTGGGCCACAAAATGAGACCTTGTCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGAC... | pathogenic | 209,284 |
Regarding the variant at chromosome 13 and position 32336718, 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'] | TCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTT... | TCCCTGAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTT... | pathogenic | 209,288 |
Clinical significance of chromosome 13, position 32336723, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTT... | GAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTT... | pathogenic | 209,291 |
The chromosome 13, position 32336723 genetic variant in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTT... | GAAAAAAAAAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTT... | pathogenic | 209,292 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32336731—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTT... | AAAAAGAAAAAAAAAATTTAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTT... | pathogenic | 209,297 |
Regarding the variant found on chromosome 13 at position 32336749 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'] | TAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATA... | TAAATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATA... | pathogenic | 209,302 |
Variant on chromosome 13, at position 32336751, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACT... | AATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACT... | pathogenic | 209,303 |
The genetic variant at chromosome 13, position 32336752, 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', 'Ovarian_neoplasm'] | ATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTA... | ATAGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTA... | pathogenic | 209,304 |
A genetic variant at chromosome 13, position 32336754, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATG... | AGAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATG... | pathogenic | 209,305 |
Considering the variant on chromosome 13, location 32336755, involving gene BRCA2 (BRCA2 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | GAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGC... | GAGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGC... | pathogenic | 209,306 |
A mutation at chromosome position 32336756 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | AGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCA... | AGGAAATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCA... | pathogenic | 209,307 |
Classify the chromosome 13 variant at position 32336760 affecting gene BRCA2 (BRCA2 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATC... | AATACTAGCTAAGTTTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATC... | pathogenic | 209,309 |
Does the genetic variant at chromosome 13, position 32336774, 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'] | TTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAA... | TTAATGTAGGCCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAA... | pathogenic | 209,316 |
Variant at chromosome position 32336784, 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'] | CCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCT... | CCAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCT... | pathogenic | 209,319 |
Clinical classification of chromosome 13, position 32336785, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTA... | CAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTA... | pathogenic | 209,320 |
Variant at chromosome 13, position 32336785, gene BRCA2 (BRCA2 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTA... | CAGTTCTAAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTA... | pathogenic | 209,321 |
Does the chromosome 13 mutation at position 32336792 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'] | AAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGG... | AAAATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGG... | pathogenic | 209,322 |
Clinical significance of chromosome 13, position 32336794, 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'] | AATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCC... | AATAATGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCC... | pathogenic | 209,323 |
Does the variant on chromosome 13 at location 32336799 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCG... | TGATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCG... | pathogenic | 209,324 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32336801: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCA... | ATTTATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCA... | pathogenic | 209,325 |
Mutation at chromosome 13, position 32336804, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTG... | TATTGCTGCTGTTGTTACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTG... | pathogenic | 209,326 |
Is the genetic change at chromosome 13, position 32336820, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATC... | ACATAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATC... | pathogenic | 209,330 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32336823—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCA... | TAATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCA... | pathogenic | 209,332 |
Regarding the variant at chromosome 13 and position 32336825, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGC... | ATTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGC... | pathogenic | 209,333 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32336826, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCA... | TTTTCTTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCA... | pathogenic | 209,335 |
Clinical classification of chromosome 13, position 32336831, 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', 'Hereditary_cancer-predisposing_syndrome'] | TTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTG... | TTAAATATTTTAAAGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTG... | pathogenic | 209,338 |
Does the chromosome 13 mutation at position 32336844 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'] | AGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCA... | AGATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCA... | pathogenic | 209,342 |
Does the genetic variant at chromosome 13, position 32336845, impacting gene BRCA2 (BRCA2 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAG... | GATTGCATACTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAG... | pathogenic | 209,343 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32336854—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCAC... | CTGTTACTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCAC... | pathogenic | 209,349 |
Does the chromosome 13 mutation at position 32336860 within gene BRCA2 (BRCA2 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGG... | CTGCTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGG... | pathogenic | 209,351 |
Considering the variant on chromosome 13, location 32336863, 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'] | CTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCA... | CTCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCA... | pathogenic | 209,352 |
Chromosome 13, position 32336864, gene BRCA2 (BRCA2 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAA... | TCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAA... | pathogenic | 209,353 |
Clinical classification of chromosome 13, position 32336864, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Polyposis_syndrome,_hereditary_mixed,_1'] | TCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAA... | TCTATTTCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAA... | pathogenic | 209,354 |
Determine if the mutation at chromosome 13, position 32336870 in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_prostate_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTC... | TCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTC... | pathogenic | 209,356 |
A genetic alteration at chromosome 13, position 32336870, 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'] | TCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTC... | TCTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTC... | pathogenic | 209,357 |
Does the variant on chromosome 13 at location 32336871 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | CTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCA... | CTGCATCTCCGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCA... | pathogenic | 209,358 |
Classify the chromosome 13 variant at position 32336880 affecting gene BRCA2 (BRCA2 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | CGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCC... | CGTGGTGTAACTCTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCC... | pathogenic | 209,362 |
A genetic alteration at chromosome 13, position 32336892, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGG... | CTGTCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGG... | pathogenic | 209,368 |
A genetic alteration at chromosome 13, position 32336895, 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'] | TCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAA... | TCCTCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAA... | pathogenic | 209,373 |
Clinical classification of chromosome 13, position 32336898, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAAC... | TCTTTGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAAC... | pathogenic | 209,374 |
A genetic alteration at chromosome 13, position 32336902, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | TGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCA... | TGTTGTTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCA... | pathogenic | 209,375 |
Chromosome 13, position 32336907, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCT... | TTGCAACAGTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCT... | pathogenic | 209,379 |
Is the variant located on chromosome 13 at position 32336915, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAA... | GTTCACTTAGCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAA... | pathogenic | 209,380 |
Clinically, how would you classify the variant at chromosome 13, position 32336924, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAA... | GCAACTAAACTGTATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAA... | pathogenic | 209,382 |
Classify the chromosome 13 variant at position 32336936 affecting gene BRCA2 (BRCA2 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGT... | TATGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGT... | pathogenic | 209,384 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32336938 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGG... | TGTTTACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGG... | pathogenic | 209,387 |
Variant on chromosome 13, at position 32336943, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | ACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCA... | ACAAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCA... | pathogenic | 209,388 |
Is the variant located on chromosome 13 at position 32336945, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | AAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATG... | AAAGTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATG... | pathogenic | 209,390 |
Is the genetic variant on chromosome 13, position 32336948, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_neoplasm', 'Hereditary_breast_ovarian_cancer_syndrome'] | GTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGC... | GTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGC... | pathogenic | 209,392 |
Mutation found at chromosome 13 position 32336948, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | GTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGC... | GTGATTTTATCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGC... | pathogenic | 209,393 |
Chromosome 13, position 32336957, gene BRCA2 (BRCA2 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCC... | TCTCCCTATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCC... | pathogenic | 209,396 |
Does the chromosome 13 mutation at position 32336963 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'] | TATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTA... | TATGAGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTA... | pathogenic | 209,399 |
Is the genetic variant on chromosome 13, position 32336967, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCG... | AGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCG... | pathogenic | 209,401 |
A mutation at chromosome position 32336967 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'] | AGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCG... | AGAAGACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCG... | pathogenic | 209,403 |
For chromosome 13, position 32336971, 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'] | GACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAC... | GACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAC... | pathogenic | 209,405 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32336972—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'] | ACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACG... | ACTTTAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACG... | pathogenic | 209,406 |
Mutation at chromosome 13, position 32336976, 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'] | TAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAA... | TAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAA... | pathogenic | 209,408 |
Clinically, how would you classify the variant at chromosome 13, position 32336976, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAA... | TAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAA... | pathogenic | 209,409 |
Considering the genetic mutation at chromosome 13, position 32336976, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAA... | TAGTGAATAGCTCAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAA... | pathogenic | 209,410 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32336988: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATC... | CAGTGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATC... | pathogenic | 209,413 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32336991 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | TGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACT... | TGAATAGTAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACT... | pathogenic | 209,414 |
The genetic variant at chromosome 13, position 32336998, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | TAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCT... | TAGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCT... | pathogenic | 209,417 |
Variant at chromosome 13, position 32336999, 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'] | AGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTG... | AGAGTTGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTG... | pathogenic | 209,418 |
A genetic variant on chromosome 13, position 32337004, 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'] | TGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGA... | TGGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGA... | pathogenic | 209,420 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32337005, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | GGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGAT... | GGTGAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGAT... | pathogenic | 209,421 |
Determine whether the variant at chromosome 13, position 32337008, 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'] | GAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGA... | GAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGA... | pathogenic | 209,424 |
Does the variant on chromosome 13 at location 32337008 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGA... | GAGACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGA... | pathogenic | 209,425 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32337010—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGG... | GACCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGG... | pathogenic | 209,426 |
A genetic variant on chromosome 13, position 32337012, 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'] | CCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTT... | CCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTT... | pathogenic | 209,427 |
Evaluate if the mutation on chromosome 13 at position 32337012 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_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTT... | CCACAGTACAGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTT... | pathogenic | 209,428 |
Assess the variant on chromosome 13, position 32337021, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGC... | AGAACTGTTTGAAGTTTGGGTTAAATTTTTAGAGGAAAATGTTTGATACTATGCATATCATAGTTAAAGCCAATGAAAAAGCTAATATAGGCCAGGCGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTAAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTATGAAAAAAAACAAAAATTATCCAGATGTGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGACGCTAAGGCAGGAGAATCACTTGAACCTGGGAGATGGAGGTTGCAATGAGC... | pathogenic | 209,431 |
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