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 |
|---|---|---|---|---|---|
Determine whether the variant at chromosome 13, position 32332876, 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'] | ACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCC... | ACCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCC... | pathogenic | 208,791 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32332877 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCT... | CCAAAAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCT... | pathogenic | 208,793 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32332881: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | AAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCG... | AAGTGAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCG... | pathogenic | 208,795 |
Regarding the variant found on chromosome 13 at position 32332885 in gene BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the 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'] | GAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCT... | GAAACCATGGATAAGGGGGGACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCT... | pathogenic | 208,796 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32332905 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | ACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCT... | ACTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCT... | pathogenic | 208,802 |
Benign or pathogenic: chromosome 13, position 32332906, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTT... | CTACTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTT... | pathogenic | 208,803 |
Is the genetic mutation found on chromosome 13 at position 32332909, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | CTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCC... | CTACTATATGTGCATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCC... | pathogenic | 208,804 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32332921—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | CATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGA... | CATTGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGA... | pathogenic | 208,807 |
Does the genetic variant at chromosome 13, position 32332924, impacting gene BRCA2 (BRCA2 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTA... | TGAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTA... | pathogenic | 208,808 |
The genetic variant at chromosome 13, position 32332925, 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'] | GAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTAC... | GAGAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTAC... | pathogenic | 208,809 |
Benign or pathogenic: chromosome 13, position 32332927, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAA... | GAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAA... | pathogenic | 208,810 |
Clinically, how would you classify the variant at chromosome 13, position 32332927, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAA... | GAGTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAA... | pathogenic | 208,811 |
Clinical significance of chromosome 13, position 32332929, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGC... | GTTTTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGC... | pathogenic | 208,812 |
Does the variant on chromosome 13 at location 32332932 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATG... | TTTATACTAGTGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATG... | pathogenic | 208,814 |
Variant at chromosome position 32332942, chromosome 13, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATG... | TGATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATG... | pathogenic | 208,817 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32332944—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCC... | ATTTTAAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCC... | pathogenic | 208,818 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32332949—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACT... | AAACTATAATTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACT... | pathogenic | 208,820 |
Classify the chromosome 13 variant at position 32332958 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'] | TTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTT... | TTTTTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTT... | pathogenic | 208,822 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32332961, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTA... | TTGCAGAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTA... | pathogenic | 208,824 |
Variant chromosome 13, position 32332973, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCA... | AAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCA... | pathogenic | 208,829 |
Variant chromosome 13, position 32332974, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | AAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCAT... | AAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCAT... | pathogenic | 208,830 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32332979—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCAC... | TATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCAC... | pathogenic | 208,832 |
Clinical significance of chromosome 13, position 32332981, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCA... | TTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCA... | pathogenic | 208,834 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32332981, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCA... | TTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCA... | pathogenic | 208,835 |
Is chromosome 13, position 32332987, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGG... | CAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGG... | pathogenic | 208,836 |
Does the chromosome 13 mutation at position 32332991 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'] | CATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAG... | CATGATGAAAGTCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAG... | pathogenic | 208,838 |
Mutation found at chromosome 13 position 32333002, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAA... | TCTGAAGAAAAATGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAA... | pathogenic | 208,840 |
Variant at chromosome 13, position 32333014, gene BRCA2 (BRCA2 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGC... | TGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGC... | pathogenic | 208,844 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32333014—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGC... | TGATAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGC... | pathogenic | 208,845 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32333017—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCAC... | TAGATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCAC... | pathogenic | 208,848 |
Evaluate if the mutation on chromosome 13 at position 32333019 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCA... | GATTTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCA... | pathogenic | 208,850 |
Chromosome 13, position 32333022, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGC... | TTATCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGC... | pathogenic | 208,852 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32333025—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCA... | TCGCTTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCA... | pathogenic | 208,855 |
Clinically, how would you classify the variant at chromosome 13, position 32333029, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | TTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCT... | TTCTGTGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCT... | pathogenic | 208,857 |
Assess the variant on chromosome 13, position 32333034, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACT... | TGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACT... | pathogenic | 208,859 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32333034: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | TGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACT... | TGACAGACAGTGAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACT... | pathogenic | 208,860 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32333045—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAA... | GAAAACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAA... | pathogenic | 208,864 |
Does the variant on chromosome 13 at location 32333048 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTG... | AACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTG... | pathogenic | 208,866 |
Clinical significance of chromosome 13, position 32333049, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | ACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGG... | ACACAAATCAAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGG... | pathogenic | 208,867 |
Is the chromosome 13, position 32333058 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | AAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGA... | AAAGAGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGA... | pathogenic | 208,870 |
Clinical significance of chromosome 13, position 32333062, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGA... | AGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGA... | pathogenic | 208,871 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32333062—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGA... | AGAAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGA... | pathogenic | 208,873 |
A genetic variant at chromosome 13, position 32333064, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | AAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATT... | AAGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATT... | pathogenic | 208,874 |
Considering the genetic mutation at chromosome 13, position 32333065, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | AGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTG... | AGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTG... | pathogenic | 208,876 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32333065, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTG... | AGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTG... | pathogenic | 208,877 |
A genetic variant at chromosome 13, position 32333065, 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'] | AGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTG... | AGCTGCAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTG... | pathogenic | 208,878 |
The genetic variant at chromosome 13, position 32333070, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCT... | CAAGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCT... | pathogenic | 208,880 |
Benign or pathogenic: chromosome 13, position 32333072, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCT... | AGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCT... | pathogenic | 208,882 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32333072 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | AGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCT... | AGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCT... | pathogenic | 208,883 |
Clinically, how would you classify the variant at chromosome 13, position 32333072, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCT... | AGTCATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCT... | pathogenic | 208,884 |
Considering the genetic mutation at chromosome 13, position 32333076, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTC... | ATGGTAAGTCCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTC... | pathogenic | 208,886 |
Classify the chromosome 13 variant at position 32333085 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'] | CCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGA... | CCTCTGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGA... | pathogenic | 208,888 |
Clinical significance of chromosome 13, position 32333089, 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'] | TGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAAT... | TGTTTAGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAAT... | pathogenic | 208,889 |
Evaluate this variant at chromosome 13, position 32333094, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | AGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATT... | AGTTGAACTACAGGTTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATT... | pathogenic | 208,890 |
Does the variant on chromosome 13 at location 32333108 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTT... | TTTTTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTT... | pathogenic | 208,894 |
Is the genetic mutation found on chromosome 13 at position 32333111, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Medulloblastoma', 'Pancreatic_cancer,_susceptibility_to,_2', 'Wilms_tumor_1'] | TTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGAC... | TTTTGTTGTTGTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGAC... | pathogenic | 208,895 |
Located at chromosome 13 position 32333121, the variant affecting gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | GTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTA... | GTTGTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTA... | pathogenic | 208,899 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32333124—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | GTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTA... | GTTTTGATTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTA... | pathogenic | 208,901 |
Assess the variant on chromosome 13, position 32333131, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['BRCA2-related_cancer_predisposition', 'BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATC... | TTTTTTTTTTTTGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATC... | pathogenic | 208,903 |
Does the genetic variant at chromosome 13, position 32333142, 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'] | TGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTG... | TGAGGTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTG... | pathogenic | 208,907 |
Does the chromosome 13 mutation at position 32333146 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'] | GTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAG... | GTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAG... | pathogenic | 208,909 |
Variant chromosome 13, position 32333146, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | GTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAG... | GTGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAG... | pathogenic | 208,910 |
A genetic variant at chromosome 13, position 32333147, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGT... | TGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGT... | pathogenic | 208,911 |
Variant chromosome 13, position 32333147, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGT... | TGGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGT... | pathogenic | 208,912 |
Does the genetic variant at chromosome 13, position 32333148, 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'] | GGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTA... | GGAGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTA... | pathogenic | 208,914 |
Variant chromosome 13, position 32333150, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGA... | AGTCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGA... | pathogenic | 208,915 |
A mutation at chromosome position 32333152 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'] | TCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAA... | TCTTGCTCTGTCACCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAA... | pathogenic | 208,916 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32333165—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTG... | CCCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTG... | pathogenic | 208,921 |
Evaluate this variant at chromosome 13, position 32333166, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGC... | CCGTGATCTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGC... | pathogenic | 208,923 |
Variant chromosome 13, position 32333173, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | CTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGAT... | CTCGGTTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGAT... | pathogenic | 208,926 |
A genetic variant at chromosome 13, position 32333178, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAG... | TTTACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAG... | pathogenic | 208,929 |
Located at chromosome 13 position 32333181, 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'] | ACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTA... | ACCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTA... | pathogenic | 208,931 |
Does the genetic variant at chromosome 13, position 32333182, 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'] | CCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTAC... | CCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTAC... | pathogenic | 208,932 |
Evaluate this variant at chromosome 13, position 32333182, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTAC... | CCGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTAC... | pathogenic | 208,934 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32333183—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACT... | CGCAACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACT... | pathogenic | 208,936 |
Considering the genetic mutation at chromosome 13, position 32333187, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | ACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGG... | ACCTCTGCCTCCCGTGCTCAAGCGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGG... | pathogenic | 208,938 |
Variant at chromosome 13, position 32333209, gene BRCA2 (BRCA2 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCT... | CGATCCTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCT... | pathogenic | 208,942 |
Evaluate if the mutation on chromosome 13 at position 32333214 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGC... | CTGCCTCAGCTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGC... | pathogenic | 208,945 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32333223—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | CTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGT... | CTTGCCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGT... | pathogenic | 208,948 |
Classify the chromosome 13 variant at position 32333227 affecting gene BRCA2 (BRCA2 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAG... | CCAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAG... | pathogenic | 208,951 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32333228—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['BRCA2-related_cancer_predisposition', 'BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_c... | CAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGG... | CAAGTAGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGG... | pathogenic | 208,952 |
Benign or pathogenic: chromosome 13, position 32333233, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCA... | AGCTGAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCA... | pathogenic | 208,954 |
Variant at chromosome 13, position 32333237, 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'] | GAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGA... | GAGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGA... | pathogenic | 208,956 |
Determine if the mutation at chromosome 13, position 32333238 in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAG... | AGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAG... | pathogenic | 208,957 |
A genetic alteration at chromosome 13, position 32333238, 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'] | AGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAG... | AGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAG... | pathogenic | 208,958 |
Determine if the mutation at chromosome 13, position 32333238 in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | 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'] | AGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAG... | AGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAG... | pathogenic | 208,959 |
Considering the genetic mutation at chromosome 13, position 32333238, 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'] | AGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAG... | AGATTACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAG... | pathogenic | 208,960 |
Clinical significance of chromosome 13, position 32333242, 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', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma', 'Pancreatic_canc... | TACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGT... | TACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGT... | pathogenic | 208,962 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32333242—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGT... | TACAAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGT... | pathogenic | 208,963 |
Variant on chromosome 13, at position 32333245, 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,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTG... | AAGCATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTG... | pathogenic | 208,964 |
Is the genetic mutation found on chromosome 13 at position 32333249, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTG... | ATGCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTG... | pathogenic | 208,965 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32333251 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCC... | GCACCACCATGCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCC... | pathogenic | 208,966 |
Chromosome 13, position 32333261, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCC... | GCCCAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCC... | pathogenic | 208,969 |
Determine whether the variant at chromosome 13, position 32333264, 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_cancer-predisposing_syndrome'] | CAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCAC... | CAACTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCAC... | pathogenic | 208,972 |
Evaluate this variant at chromosome 13, position 32333267, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | CTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTG... | CTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTG... | pathogenic | 208,974 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32333267—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | CTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTG... | CTATTGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTG... | pathogenic | 208,976 |
Benign or pathogenic: chromosome 13, position 32333271, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['BRCA2-related_cancer_predisposition', 'BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_c... | TGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCA... | TGTATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCA... | pathogenic | 208,978 |
Regarding the variant found on chromosome 13 at position 32333274 in gene BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACA... | ATTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACA... | pathogenic | 208,980 |
Clinical classification of chromosome 13, position 32333275, 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'] | TTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAG... | TTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAG... | pathogenic | 208,982 |
Is the genetic mutation found on chromosome 13 at position 32333275, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAG... | TTTTTAGTAGAGATGGCATTTCACCATGTTGGCCAGGCTGGTCTCAAATGGTCGTGAGCCACCATGCCCAGCCTGAACTACTCTTTTTAATTGGCACCATTGAAGGATTGCTCCTCTTTTCTTAAAGAGAAAATATATTACCTTTCCTTTCTTGACTACTGAAGTAGTATTTTATCTCAAAGTATTGAGAGTAGAAACTAACTTGGTGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCCCAGGCGGTCAAGGTTGCAGTGAGCTGTGTGTGTGCCACTGCACTCCCACCTGGGCAACAG... | pathogenic | 208,983 |
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