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 |
|---|---|---|---|---|---|
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32337845—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAG... | GCATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAG... | pathogenic | 209,844 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32337847—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCA... | ATATTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCA... | pathogenic | 209,845 |
A mutation at chromosome position 32337850 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTC... | TTTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTC... | pathogenic | 209,847 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32337851 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCT... | TTAGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCT... | pathogenic | 209,848 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32337853, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTC... | AGGATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTC... | pathogenic | 209,849 |
Regarding the variant at chromosome 13 and position 32337855, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCT... | GATTCTTTCTGCTTTAAATTTGACATTCAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCT... | pathogenic | 209,850 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32337882—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGAT... | CAGTTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGAT... | pathogenic | 209,860 |
For chromosome 13, position 32337885, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | TTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTAC... | TTATTTTCATGTAATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTAC... | pathogenic | 209,861 |
Chromosome 13, position 32337898, gene BRCA2 (BRCA2 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCAC... | ATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCAC... | pathogenic | 209,866 |
Regarding the variant at chromosome 13 and position 32337898, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['BRCA2-related_cancer_predisposition', 'BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Carcinoma_of_pancreas', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', '... | ATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCAC... | ATTTGTGTTTTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCAC... | pathogenic | 209,867 |
Clinical classification of chromosome 13, position 32337907, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAA... | TTGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAA... | pathogenic | 209,869 |
Is the genetic change at chromosome 13, position 32337908, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAA... | TGAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAA... | pathogenic | 209,870 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32337909, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | GAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAAC... | GAGCACTACCTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAAC... | pathogenic | 209,871 |
Clinically, how would you classify the variant at chromosome 13, position 32337918, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTT... | CTTTTAATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTT... | pathogenic | 209,874 |
Is the chromosome 13, position 32337923 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAAC... | AATTAATTTATTTATTTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAAC... | pathogenic | 209,877 |
Chromosome 13, position 32337938, 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'] | TTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATT... | TTTTATTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATT... | pathogenic | 209,885 |
Does the chromosome 13 mutation at position 32337943 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'] | TTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTG... | TTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTG... | pathogenic | 209,890 |
Is the chromosome 13, position 32337943 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTG... | TTTTTTAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTG... | pathogenic | 209,891 |
Evaluate if the mutation on chromosome 13 at position 32337948 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGT... | TAGAGACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGT... | pathogenic | 209,892 |
A mutation at chromosome position 32337952 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['BRCA2-related_cancer_predisposition', 'BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Chordoma', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Gastric_cancer'... | GACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATT... | GACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATT... | pathogenic | 209,894 |
Variant at chromosome position 32337953, chromosome 13, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTG... | ACTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTG... | pathogenic | 209,895 |
Chromosome 13, position 32337954, 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'] | CTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGA... | CTGTCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGA... | pathogenic | 209,896 |
Is the genetic variant on chromosome 13, position 32337957, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGG... | TCTCATTCTGTTACCTAGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGG... | pathogenic | 209,899 |
Mutation at chromosome 13, position 32337973, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCA... | AGTCTGGAGTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCA... | pathogenic | 209,902 |
For chromosome 13, position 32337981, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGT... | GTGCACTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGT... | pathogenic | 209,904 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32337986 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTA... | CTAGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTA... | pathogenic | 209,908 |
Determine if the mutation at chromosome 13, position 32337988 in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATG... | AGTGTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATG... | pathogenic | 209,909 |
Evaluate if the mutation on chromosome 13 at position 32337991 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTT... | GTGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTT... | pathogenic | 209,911 |
Assess the variant on chromosome 13, position 32337992, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTA... | TGATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTA... | pathogenic | 209,913 |
Is the genetic change at chromosome 13, position 32337993, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAG... | GATCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAG... | pathogenic | 209,914 |
A genetic variant at chromosome 13, position 32337995, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGT... | TCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGT... | pathogenic | 209,915 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32337995: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | TCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGT... | TCTCAGCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGT... | pathogenic | 209,916 |
Variant chromosome 13, position 32338000, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATT... | GCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATT... | pathogenic | 209,919 |
Clinical classification of chromosome 13, position 32338000, 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'] | GCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATT... | GCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATT... | pathogenic | 209,920 |
Assess the variant on chromosome 13, position 32338000, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | GCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATT... | GCTCACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATT... | pathogenic | 209,921 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32338003—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | CACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCA... | CACCGTAGCCTCACCCTCCTGGGCTCAAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCA... | pathogenic | 209,922 |
Chromosome 13, position 32338029, gene BRCA2 (BRCA2 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCAC... | AAGCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCAC... | pathogenic | 209,927 |
Regarding the variant at chromosome 13 and position 32338031, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | GCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAG... | GCAGTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAG... | pathogenic | 209,929 |
A genetic alteration at chromosome 13, position 32338034, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Inherited_breast_cancer_and_ovarian_cancer'] | GTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAAT... | GTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAAT... | pathogenic | 209,930 |
Considering the genetic mutation at chromosome 13, position 32338034, 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'] | GTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAAT... | GTCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAAT... | pathogenic | 209,931 |
Determine if the mutation at chromosome 13, position 32338035 in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATG... | TCCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATG... | pathogenic | 209,932 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32338036, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGA... | CCTTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGA... | pathogenic | 209,935 |
Evaluate this variant at chromosome 13, position 32338038, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Malignant_tumor_of_breast'] | TTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATT... | TTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATT... | pathogenic | 209,937 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32338038—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATT... | TTGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATT... | pathogenic | 209,938 |
Located at chromosome 13 position 32338039, 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', 'Hereditary_breast_ovarian_cancer_syndrome'] | TGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTC... | TGCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTC... | pathogenic | 209,940 |
Considering the genetic mutation at chromosome 13, position 32338040, 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'] | GCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCT... | GCACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCT... | pathogenic | 209,941 |
A genetic alteration at chromosome 13, position 32338042, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | 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'] | ACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGA... | ACCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGA... | pathogenic | 209,942 |
Variant chromosome 13, position 32338043, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? 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'] | CCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAA... | CCTCACCCTCCTGAGTAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAA... | pathogenic | 209,943 |
Is the genetic variant on chromosome 13, position 32338058, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCC... | TAACTGGCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCC... | pathogenic | 209,948 |
Is the variant located on chromosome 13 at position 32338064, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACT... | GCACCACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACT... | pathogenic | 209,951 |
The genetic variant at chromosome 13, position 32338069, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTC... | ACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTC... | pathogenic | 209,955 |
Is the genetic change at chromosome 13, position 32338069, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTC... | ACAGGCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTC... | pathogenic | 209,956 |
For chromosome 13, position 32338073, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTT... | GCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTT... | pathogenic | 209,958 |
Is the chromosome 13, position 32338073 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTT... | GCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTT... | pathogenic | 209,959 |
Is the variant located on chromosome 13 at position 32338073, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTT... | GCATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTT... | pathogenic | 209,960 |
Regarding the variant at chromosome 13 and position 32338075, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGG... | ATACACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGG... | pathogenic | 209,962 |
Is the genetic mutation found on chromosome 13 at position 32338078, 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'] | CACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGAC... | CACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGAC... | pathogenic | 209,964 |
Considering the variant on chromosome 13, location 32338078, involving gene BRCA2 (BRCA2 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGAC... | CACCACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGAC... | pathogenic | 209,965 |
Determine whether the variant at chromosome 13, position 32338082, 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'] | ACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATT... | ACCACACCCAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATT... | pathogenic | 209,966 |
Clinical classification of chromosome 13, position 32338090, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | CAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAA... | CAGCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAA... | pathogenic | 209,968 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32338092—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAAT... | GCTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAAT... | pathogenic | 209,969 |
Considering the genetic mutation at chromosome 13, position 32338093, 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', 'Pancreatic_cancer,_susceptibility_to,_2'] | CTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATG... | CTAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATG... | pathogenic | 209,970 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32338094: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGT... | TAATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGT... | pathogenic | 209,971 |
For chromosome 13, position 32338096, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditar... | ATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTC... | ATTTTTATTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTC... | pathogenic | 209,973 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32338103, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_carcinoma', 'Familial_cancer_of_breast', 'Familial_pancreatic_carcinoma', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAAT... | TTTTTCATAGAGTCATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAAT... | pathogenic | 209,974 |
Clinically, how would you classify the variant at chromosome 13, position 32338116, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTA... | CATGGTCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTA... | pathogenic | 209,976 |
Mutation at chromosome 13, position 32338121, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAAT... | TCTCACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAAT... | pathogenic | 209,980 |
Determine whether the variant at chromosome 13, position 32338125, in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | ACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAG... | ACTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAG... | pathogenic | 209,981 |
The genetic variant at chromosome 13, position 32338126, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | CTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGT... | CTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGT... | pathogenic | 209,984 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32338128—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAA... | ATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAA... | pathogenic | 209,986 |
Is the genetic change at chromosome 13, position 32338129, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAAT... | TGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAAT... | pathogenic | 209,987 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32338131—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCT... | TTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCT... | pathogenic | 209,988 |
Clinical classification of chromosome 13, position 32338131, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCT... | TTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCT... | pathogenic | 209,989 |
Assess the variant on chromosome 13, position 32338131, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCT... | TTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCT... | pathogenic | 209,990 |
Regarding the variant found on chromosome 13 at position 32338156 in gene BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGC... | GGGCTCAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGC... | pathogenic | 209,999 |
Clinical classification of chromosome 13, position 32338161, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAAT... | CAAGCAGTCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAAT... | pathogenic | 210,000 |
Does the chromosome 13 mutation at position 32338168 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'] | TCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAA... | TCTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAA... | pathogenic | 210,005 |
Is the variant located on chromosome 13 at position 32338169, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAG... | CTTCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAG... | pathogenic | 210,007 |
Variant at chromosome 13, position 32338171, 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'] | TCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGA... | TCCTGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGA... | pathogenic | 210,008 |
A mutation at chromosome position 32338174 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAA... | TGCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAA... | pathogenic | 210,009 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32338175 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'] | GCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAA... | GCCTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAA... | pathogenic | 210,010 |
Benign or pathogenic: chromosome 13, position 32338177, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACT... | CTCAGCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACT... | pathogenic | 210,011 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32338181, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAG... | GCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAG... | pathogenic | 210,012 |
For chromosome 13, position 32338181, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAG... | GCCTCCCAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAG... | pathogenic | 210,013 |
Chromosome 13, position 32338187, 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', 'Breast_neoplasm', 'Hereditary_breast_ovarian_cancer_syndrome'] | CAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTT... | CAAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTT... | pathogenic | 210,014 |
The chromosome 13, position 32338189 genetic variant in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTAT... | AAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTAT... | pathogenic | 210,016 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32338189 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | AAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTAT... | AAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTAT... | pathogenic | 210,017 |
Regarding the variant found on chromosome 13 at position 32338191 in gene BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | AGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTA... | AGTGCTGAGATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTA... | pathogenic | 210,018 |
For chromosome 13, position 32338200, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['BRCA2-related_cancer_predisposition', 'BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Breast_carcinoma', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Gastric_cancer', 'Glioma_suscept... | ATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAG... | ATTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAG... | pathogenic | 210,022 |
Determine whether the variant at chromosome 13, position 32338201, 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'] | TTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGC... | TTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGC... | pathogenic | 210,024 |
Chromosome 13, position 32338201, gene BRCA2 (BRCA2 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | TTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGC... | TTACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGC... | pathogenic | 210,025 |
Clinically, how would you classify the variant at chromosome 13, position 32338202, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGCT... | TACAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGCT... | pathogenic | 210,026 |
Considering the genetic mutation at chromosome 13, position 32338204, 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'] | CAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGCTGA... | CAGGCATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGCTGA... | pathogenic | 210,027 |
Mutation at chromosome 13, position 32338208, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGCTGATTCT... | CATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGCTGATTCT... | pathogenic | 210,031 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32338208—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | CATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGCTGATTCT... | CATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGCTGATTCT... | pathogenic | 210,032 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32338208, 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'] | CATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGCTGATTCT... | CATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGCTGATTCT... | pathogenic | 210,033 |
For chromosome 13, position 32338208, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGCTGATTCT... | CATGAGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGCTGATTCT... | pathogenic | 210,034 |
Is the genetic variant on chromosome 13, position 32338212, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGCTGATTCTCTGT... | AGCCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGCTGATTCTCTGT... | pathogenic | 210,035 |
Does the variant on chromosome 13 at location 32338214 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'] | CCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGCTGATTCTCTGTCA... | CCACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGCTGATTCTCTGTCA... | pathogenic | 210,036 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32338215 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGCTGATTCTCTGTCAT... | CACTGTGCCCAAACACTACCTTTTTAACTTAGTGAAAAATATTTAGTGAATGTGATTGATGGTACTTTAATTTTGTCACTTTGTGTTTTTATGTTTAGGTTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTTGTCCTTAACTAGCTCTTTTGGGACAATTCTGAGGAAATGTTCTAGAAATGAAACATGTTCTAATAATACAGTAATCTCTCAGGATCTTGATTATAAAGAAGCAAAATGTAATAAGGAAAAACTACAGTTATTTATTACCCCAGAAGCTGATTCTCTGTCAT... | pathogenic | 210,037 |
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