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 |
|---|---|---|---|---|---|
A genetic variant on chromosome 13, position 32363528, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATTACTTCTGTTGTCTTAGTG... | TTGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATTACTTCTGTTGTCTTAGTG... | pathogenic | 212,777 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32363529, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATTACTTCTGTTGTCTTAGTGC... | TGGAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATTACTTCTGTTGTCTTAGTGC... | pathogenic | 212,779 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32363531, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | GAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATTACTTCTGTTGTCTTAGTGCTA... | GAGAGGAAGTAGGATCAAAGAGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATTACTTCTGTTGTCTTAGTGCTA... | pathogenic | 212,781 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32363551, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | benign | AGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATTACTTCTGTTGTCTTAGTGCTAAGAGTATGAATGAGAAAGGA... | AGTCTTAGTTTTGGCTTGTTTTAAGGTAGAAAAAAACCGTTTCTTATGCTGATTCACATTGTTCAGTAGAGAGGGAAAAAATTGATGATGCAGGAGAGAGAGGAGGCATTTCCTGATCGTTGGCCTTGTAGGCAGCAAGGGGTAGGAGCTAGTGCACAAATGGTAGAAGAGGGCAAAGTGTAAGGATGCAGATGCTTGGAAGAGGGCAAAGTGTAGGGATACAGATGCTGTGAGTGGATAGATATGAGGGTGGGAGCTTATGGAAGTTCTCTTTTGATTACTTCTGTTGTCTTAGTGCTAAGAGTATGAATGAGAAAGGA... | benign | 212,791 |
A genetic alteration at chromosome 13, position 32364237, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | ATTTTTTTTATTATTTTTTGTAGAGATGTGGGGGTCTCACTATGTTGCCTAGGCTGGTCTCAAACTTCTGGCCTCAAGCAATCCTCCTGCCTCAGCTTCCCAAAATGCTGGGAGTATAGGCATGAGCCACCATGCTCAGCAATGAAGTTTTTATCAGTATGATACTTTGATACATGTCAAATAATTTTCTGAAATTATATTGTAGATCATATGAACTCATAAAAACTTAATGATCTTGAACAATGTAGTTTTTGTACAGAGAATAGTTGTAGTTGTTGAATTCAGTATCATCCTATGTGGTTTTTATGATAATATTCTAC... | ATTTTTTTTATTATTTTTTGTAGAGATGTGGGGGTCTCACTATGTTGCCTAGGCTGGTCTCAAACTTCTGGCCTCAAGCAATCCTCCTGCCTCAGCTTCCCAAAATGCTGGGAGTATAGGCATGAGCCACCATGCTCAGCAATGAAGTTTTTATCAGTATGATACTTTGATACATGTCAAATAATTTTCTGAAATTATATTGTAGATCATATGAACTCATAAAAACTTAATGATCTTGAACAATGTAGTTTTTGTACAGAGAATAGTTGTAGTTGTTGAATTCAGTATCATCCTATGTGGTTTTTATGATAATATTCTAC... | benign | 212,795 |
Regarding the variant found on chromosome 13 at position 32364618 in gene BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TTTGGGTTTATAATCACTATAGATGGATCATATGGAAACTGGCAGCTATGGAATGTGCCTTTCCTAAGGAATTTGCTAATAGATGCCTAAGCCCAGAAAGGGTGCTTCTTCAACTAAAATACAGGCAAGTTTAAAGCATTACATTACGTAATCATATACGGCAGTATGGTTAAGGTTTCTGTGTAGTCTGTGACTTCCATGTCAAAATGTTGCACAAGCCAGTTGTCAGTGACAGTTGCCATCCCACACTGCTGTTCTCCTGTCATCCCTAGCCCCCATTTAAGAGAGATCACACATTCATGCATTGCTTGCTTCCCTCT... | TTTGGGTTTATAATCACTATAGATGGATCATATGGAAACTGGCAGCTATGGAATGTGCCTTTCCTAAGGAATTTGCTAATAGATGCCTAAGCCCAGAAAGGGTGCTTCTTCAACTAAAATACAGGCAAGTTTAAAGCATTACATTACGTAATCATATACGGCAGTATGGTTAAGGTTTCTGTGTAGTCTGTGACTTCCATGTCAAAATGTTGCACAAGCCAGTTGTCAGTGACAGTTGCCATCCCACACTGCTGTTCTCCTGTCATCCCTAGCCCCCATTTAAGAGAGATCACACATTCATGCATTGCTTGCTTCCCTCT... | benign | 212,799 |
Is chromosome 13, position 32365247, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GAAGCAGAAGATCGGCTATAAAAAAGATAATGGAAAGGGATGACACAGCTGCAAAAACACTTGTTCTCTGTGTTTCTGACATAATTTCATTGAGCGCAAATATATCTGAAACTTCTAGCAATAAAACTAGTAGTGCAGATACCCAAAAAGTGGCCATTATTGAACTTACAGATGGGTGGTATGCTGTTAAGGCCCAGTTAGATCCTCCCCTCTTAGCTGTCTTAAAGAATGGCAGACTGACAGTTGGTCAGAAGATTATTCTTCATGGAGCAGAACTGGTGGGCTCTCCTGATGCCTGTACACCTCTTGAAGCCCCAGAA... | GAAGCAGAAGATCGGCTATAAAAAAGATAATGGAAAGGGATGACACAGCTGCAAAAACACTTGTTCTCTGTGTTTCTGACATAATTTCATTGAGCGCAAATATATCTGAAACTTCTAGCAATAAAACTAGTAGTGCAGATACCCAAAAAGTGGCCATTATTGAACTTACAGATGGGTGGTATGCTGTTAAGGCCCAGTTAGATCCTCCCCTCTTAGCTGTCTTAAAGAATGGCAGACTGACAGTTGGTCAGAAGATTATTCTTCATGGAGCAGAACTGGTGGGCTCTCCTGATGCCTGTACACCTCTTGAAGCCCCAGAA... | benign | 212,806 |
Classify the chromosome 13 variant at position 32366755 affecting gene BRCA2 (BRCA2 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | ACACAGGAGCTATAAAAATCCTGCCCAATATGTTAAAATTTCTCCATTGGTTCCATTTCTGTTTCTTGGAGAACCCCTGGACCTCTTCATATGCTTACTCCATTCTGAAGTGCTCATTTTCTATGTGTGCCATACAGCTCTCATTCTGTAAATTATTCTTACCTCTTTTCTGTGTTAGAAACCCCATTTCCTGGTTTCCATGTCATCTTTCTAGAGTTTTTCCCCCAATTTTAAGGGCCCACAACTCTCAGAGGCTTGTTGGGAAAAGGAGCATGCAAGCTTTTTGATATCTTAGGGTAAGGTTGGCTGGATATAGAATT... | ACACAGGAGCTATAAAAATCCTGCCCAATATGTTAAAATTTCTCCATTGGTTCCATTTCTGTTTCTTGGAGAACCCCTGGACCTCTTCATATGCTTACTCCATTCTGAAGTGCTCATTTTCTATGTGTGCCATACAGCTCTCATTCTGTAAATTATTCTTACCTCTTTTCTGTGTTAGAAACCCCATTTCCTGGTTTCCATGTCATCTTTCTAGAGTTTTTCCCCCAATTTTAAGGGCCCACAACTCTCAGAGGCTTGTTGGGAAAAGGAGCATGCAAGCTTTTTGATATCTTAGGGTAAGGTTGGCTGGATATAGAATT... | benign | 212,812 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32366868 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TCATTTTCTATGTGTGCCATACAGCTCTCATTCTGTAAATTATTCTTACCTCTTTTCTGTGTTAGAAACCCCATTTCCTGGTTTCCATGTCATCTTTCTAGAGTTTTTCCCCCAATTTTAAGGGCCCACAACTCTCAGAGGCTTGTTGGGAAAAGGAGCATGCAAGCTTTTTGATATCTTAGGGTAAGGTTGGCTGGATATAGAATTCTAGGTTGAAATAATTTCTTCAGAATTTTTAAGACATTTCATTTATCTTCTTTAGCATAGCTCCTGCTAATTGCAGTGCATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA... | TCATTTTCTATGTGTGCCATACAGCTCTCATTCTGTAAATTATTCTTACCTCTTTTCTGTGTTAGAAACCCCATTTCCTGGTTTCCATGTCATCTTTCTAGAGTTTTTCCCCCAATTTTAAGGGCCCACAACTCTCAGAGGCTTGTTGGGAAAAGGAGCATGCAAGCTTTTTGATATCTTAGGGTAAGGTTGGCTGGATATAGAATTCTAGGTTGAAATAATTTCTTCAGAATTTTTAAGACATTTCATTTATCTTCTTTAGCATAGCTCCTGCTAATTGCAGTGCATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA... | benign | 212,813 |
Considering the variant on chromosome 13, location 32367440, 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? | benign | ATTTTTGAGACAAAGTCTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGACCTCTGCTCACTGCAACCTCCGCCTCTCGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGTACCTGCCACCACACCCAGCCAAATTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTCATCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACGGGCATGAGCCACCACGCCCAGCCTGTTTTGTTGTTATTTAAATTTCACAGTAATGTA... | ATTTTTGAGACAAAGTCTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGACCTCTGCTCACTGCAACCTCCGCCTCTCGGGTTCAAGTGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGTACCTGCCACCACACCCAGCCAAATTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTCATCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACGGGCATGAGCCACCACGCCCAGCCTGTTTTGTTGTTATTTAAATTTCACAGTAATGTA... | benign | 212,818 |
Considering the genetic mutation at chromosome 13, position 32367579, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CCACCACACCCAGCCAAATTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTCATCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACGGGCATGAGCCACCACGCCCAGCCTGTTTTGTTGTTATTTAAATTTCACAGTAATGTACTTTGGTGTCTTTTTTTTTTTTTTTTTTTTTAACTTTTTTTTTTCCTTTAATTCTTGGCCCAGATGCTTACTGGCACTTACTCTAGAAACACATAGTCCTTCATTGAGTTCTGGAAAATTTTCTTTAAGTGGTTCTTTT... | CCACCACACCCAGCCAAATTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTCATCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACGGGCATGAGCCACCACGCCCAGCCTGTTTTGTTGTTATTTAAATTTCACAGTAATGTACTTTGGTGTCTTTTTTTTTTTTTTTTTTTTTAACTTTTTTTTTTCCTTTAATTCTTGGCCCAGATGCTTACTGGCACTTACTCTAGAAACACATAGTCCTTCATTGAGTTCTGGAAAATTTTCTTTAAGTGGTTCTTTT... | benign | 212,820 |
Chromosome 13, position 32368807, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TTGCAGTGAGCCAAGGTCGCACCACTGCACTCCAGCCTGGGCGACAAAGTGAGACCCTGTCTCAAAGAAAAAAAAAAATATGCTTATTGGTTTCATCTATCAAAAAGAACAAAAAAAAAAAAAAAAGGAATAATCCAGTAGTAGTGAGTAACCCTAGCTCTCAGACTGTTTTCTAAGTACTGTTTTCTCTTAAAAGGATGCAAGGTGTCTTGAAGAAATGGCTGATTCCAGATTCAGAGGAGGAAATATATGAATCTGGAAAGTCTTGACATACCAGAAAAAAACTAAGCATCAAACACTACTAGTGTCATGTCAAAAGG... | TTGCAGTGAGCCAAGGTCGCACCACTGCACTCCAGCCTGGGCGACAAAGTGAGACCCTGTCTCAAAGAAAAAAAAAAATATGCTTATTGGTTTCATCTATCAAAAAGAACAAAAAAAAAAAAAAAAGGAATAATCCAGTAGTAGTGAGTAACCCTAGCTCTCAGACTGTTTTCTAAGTACTGTTTTCTCTTAAAAGGATGCAAGGTGTCTTGAAGAAATGGCTGATTCCAGATTCAGAGGAGGAAATATATGAATCTGGAAAGTCTTGACATACCAGAAAAAAACTAAGCATCAAACACTACTAGTGTCATGTCAAAAGG... | benign | 212,827 |
For chromosome 13, position 32369205, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GGGCACACTGGCCCACACCTGTAATCCCAAGATTTTGGGAGGCCGAGGCAGGCAGATCACTTGGGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAAATACAAAAATTAGGTAGGCCTGGGGGCGGGTGTCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGGAGAATTGCTTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCATTCTAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAGAAAAAAAAAAGGATAATAACAGCAAAAAATTGAAAT... | GGGCACACTGGCCCACACCTGTAATCCCAAGATTTTGGGAGGCCGAGGCAGGCAGATCACTTGGGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAAATACAAAAATTAGGTAGGCCTGGGGGCGGGTGTCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGGAGAATTGCTTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCATTCTAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAGAAAAAAAAAAGGATAATAACAGCAAAAAATTGAAAT... | benign | 212,835 |
Determine if the mutation at chromosome 13, position 32369218 in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CACACCTGTAATCCCAAGATTTTGGGAGGCCGAGGCAGGCAGATCACTTGGGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAAATACAAAAATTAGGTAGGCCTGGGGGCGGGTGTCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGGAGAATTGCTTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCATTCTAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAGAAAAAAAAAAGGATAATAACAGCAAAAAATTGAAATTCATAACAAATGA... | CACACCTGTAATCCCAAGATTTTGGGAGGCCGAGGCAGGCAGATCACTTGGGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAAATACAAAAATTAGGTAGGCCTGGGGGCGGGTGTCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGGAGAATTGCTTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCATTCTAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAGAAAAAAAAAAGGATAATAACAGCAAAAAATTGAAATTCATAACAAATGA... | benign | 212,836 |
Is the genetic mutation found on chromosome 13 at position 32370406, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TTTGTGTCTACCAACATAATTTTCAAGAGACCTTTATTATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGAC... | TTTGTGTCTACCAACATAATTTTCAAGAGACCTTTATTATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGAC... | pathogenic | 212,852 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32370408: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTGTCTACCAACATAATTTTCAAGAGACCTTTATTATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCC... | TGTGTCTACCAACATAATTTTCAAGAGACCTTTATTATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCC... | pathogenic | 212,853 |
Considering the genetic mutation at chromosome 13, position 32370412, 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'] | TCTACCAACATAATTTTCAAGAGACCTTTATTATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAA... | TCTACCAACATAATTTTCAAGAGACCTTTATTATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAA... | pathogenic | 212,855 |
Is the genetic change at chromosome 13, position 32370416, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CCAACATAATTTTCAAGAGACCTTTATTATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATAT... | CCAACATAATTTTCAAGAGACCTTTATTATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATAT... | pathogenic | 212,857 |
Is chromosome 13, position 32370417, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | CAACATAATTTTCAAGAGACCTTTATTATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATC... | CAACATAATTTTCAAGAGACCTTTATTATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATC... | pathogenic | 212,858 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32370417, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CAACATAATTTTCAAGAGACCTTTATTATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATC... | CAACATAATTTTCAAGAGACCTTTATTATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATC... | pathogenic | 212,859 |
Benign or pathogenic: chromosome 13, position 32370419, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACATAATTTTCAAGAGACCTTTATTATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAG... | ACATAATTTTCAAGAGACCTTTATTATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAG... | pathogenic | 212,861 |
Variant chromosome 13, position 32370425, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTCAAGAGACCTTTATTATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTG... | TTTTCAAGAGACCTTTATTATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTG... | pathogenic | 212,866 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32370431—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AGAGACCTTTATTATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGA... | AGAGACCTTTATTATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGA... | pathogenic | 212,867 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32370440: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TATTATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGC... | TATTATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGC... | pathogenic | 212,871 |
Located at chromosome 13 position 32370443, 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'] | TATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGA... | TATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGA... | pathogenic | 212,873 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32370444—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAG... | ATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAG... | pathogenic | 212,874 |
Does the chromosome 13 mutation at position 32370444 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'] | ATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAG... | ATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAG... | pathogenic | 212,875 |
Does the variant on chromosome 13 at location 32370444 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | ATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAG... | ATTCCCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAG... | pathogenic | 212,876 |
Clinical classification of chromosome 13, position 32370448, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAG... | CCTAAATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAG... | pathogenic | 212,880 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32370452—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAA... | AATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAA... | pathogenic | 212,882 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32370453 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_cancer-predisposing_syndrome'] | ATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAAT... | ATGTTTTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAAT... | pathogenic | 212,883 |
For chromosome 13, position 32370458, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATA... | TTTCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATA... | pathogenic | 212,885 |
Variant at chromosome position 32370460, 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'] | TCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGG... | TCTTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGG... | pathogenic | 212,886 |
Classify the chromosome 13 variant at position 32370462 affecting gene BRCA2 (BRCA2 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGA... | TTTTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGA... | pathogenic | 212,887 |
Is the variant located on chromosome 13 at position 32370464, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_carcinoma', 'Hereditary_cancer-predisposing_syndrome'] | TTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGA... | TTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGA... | pathogenic | 212,888 |
Variant on chromosome 13, at position 32370464, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_... | TTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGA... | TTTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGA... | pathogenic | 212,889 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32370465: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGAC... | TTTTTGTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGAC... | pathogenic | 212,890 |
A mutation at chromosome position 32370470 on chromosome 13 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_neoplasm', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATT... | GTGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATT... | pathogenic | 212,892 |
A genetic variant on chromosome 13, position 32370471, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTG... | TGACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTG... | pathogenic | 212,893 |
The chromosome 13, position 32370473 genetic variant in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTC... | ACATTCAGTTCTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTC... | pathogenic | 212,894 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32370483—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'] | CTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAA... | CTTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAA... | pathogenic | 212,898 |
Classify the chromosome 13 variant at position 32370484 affecting gene BRCA2 (BRCA2 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | TTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAAT... | TTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAAT... | pathogenic | 212,899 |
Variant on chromosome 13, at position 32370484, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAAT... | TTGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAAT... | pathogenic | 212,900 |
Considering the variant on chromosome 13, location 32370485, 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,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATT... | TGTTTCATAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATT... | pathogenic | 212,901 |
A mutation at chromosome position 32370492 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', 'Hereditary_breast_ovarian_cancer_syndrome'] | TAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATTTTATTTC... | TAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATTTTATTTC... | pathogenic | 212,906 |
A mutation at chromosome position 32370492 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'] | TAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATTTTATTTC... | TAGATACAGTATCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATTTTATTTC... | pathogenic | 212,907 |
Is the genetic change at chromosome 13, position 32370503, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATTTTATTTCAGTTTGTTGTT... | TCTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATTTTATTTCAGTTTGTTGTT... | pathogenic | 212,910 |
Chromosome 13, position 32370504, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | CTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATTTTATTTCAGTTTGTTGTTT... | CTTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATTTTATTTCAGTTTGTTGTTT... | pathogenic | 212,911 |
Is the chromosome 13, position 32370505 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'] | TTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATTTTATTTCAGTTTGTTGTTTG... | TTCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATTTTATTTCAGTTTGTTGTTTG... | pathogenic | 212,912 |
Is the variant located on chromosome 13 at position 32370506, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATTTTATTTCAGTTTGTTGTTTGT... | TCTCATCTTTCTAAAGCTAATGATTAATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATTTTATTTCAGTTTGTTGTTTGT... | pathogenic | 212,913 |
Determine if the mutation at chromosome 13, position 32370531 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'] | AATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATTTTATTTCAGTTTGTTGTTTGTTGTTTGTTTTTTGTTTTTTTGTTTT... | AATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATTTTATTTCAGTTTGTTGTTTGTTGTTTGTTTTTTGTTTTTTTGTTTT... | pathogenic | 212,920 |
A genetic variant on chromosome 13, position 32370531, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'likely other unspecified diseases'] | AATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATTTTATTTCAGTTTGTTGTTTGTTGTTTGTTTTTTGTTTTTTTGTTTT... | AATGTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATTTTATTTCAGTTTGTTGTTTGTTGTTTGTTTTTTGTTTTTTTGTTTT... | pathogenic | 212,921 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32370534, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATTTTATTTCAGTTTGTTGTTTGTTGTTTGTTTTTTGTTTTTTTGTTTTTTT... | GTTTTATTTTCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATTTTATTTCAGTTTGTTGTTTGTTGTTTGTTTTTTGTTTTTTTGTTTTTTT... | pathogenic | 212,922 |
A genetic alteration at chromosome 13, position 32370543, in gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATTTTATTTCAGTTTGTTGTTTGTTGTTTGTTTTTTGTTTTTTTGTTTTTTTTTTGGTTTT... | TCATTTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATTTTATTTCAGTTTGTTGTTTGTTGTTTGTTTTTTGTTTTTTTGTTTTTTTTTTGGTTTT... | pathogenic | 212,925 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32370547, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATTTTATTTCAGTTTGTTGTTTGTTGTTTGTTTTTTGTTTTTTTGTTTTTTTTTTGGTTTTTTTT... | TTTCGTTTTTTCTGCTCCCTGCATTTTTTTTTTTTAATGAAAACCTTTGTCTATTTGAGTCTCTCTGGTTAGAGACTTTCCTCAATGGTGATCATTCACTGATCCAGAAGTTGTATGTGAGGTGAGGCTTGTCAGCTCATAGGGTAGTAATGTAGTGATTTAGTTTTTAACTAGGAGACCCTCAAATATCAGTGACTGTTCTGAGAGCTGAGCAGAGTAAGGAAATTAATAGGGAGACTCATTGTCAGTGTAAGAATTTTATTTCAGTTTGTTGTTTGTTGTTTGTTTTTTGTTTTTTTGTTTTTTTTTTGGTTTTTTTT... | pathogenic | 212,927 |
Evaluate if the mutation on chromosome 13 at position 32370954 in BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GTTCGAGGAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTT... | GTTCGAGGAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTT... | pathogenic | 212,950 |
Clinically, how would you classify the variant at chromosome 13, position 32370968, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAG... | CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAG... | pathogenic | 212,957 |
The genetic variant at chromosome 13, position 32370972, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAG... | CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAG... | pathogenic | 212,962 |
Variant on chromosome 13, at position 32370973, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGA... | CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGA... | pathogenic | 212,963 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32370985—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | AGTAGCTGGGACTACAGGCGCCTGCCACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGG... | AGTAGCTGGGACTACAGGCGCCTGCCACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGG... | pathogenic | 212,971 |
Is the genetic mutation found on chromosome 13 at position 32370994, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Medulloblastoma', 'Pancreatic_cancer,_susceptibility_to,_2', 'Wilms_tumor_1'] | GACTACAGGCGCCTGCCACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTT... | GACTACAGGCGCCTGCCACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTT... | pathogenic | 212,975 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32370998, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | ACAGGCGCCTGCCACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGT... | ACAGGCGCCTGCCACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGT... | pathogenic | 212,977 |
Does the variant on chromosome 13 at location 32370998 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACAGGCGCCTGCCACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGT... | ACAGGCGCCTGCCACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGT... | pathogenic | 212,978 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32371000, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | AGGCGCCTGCCACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTAT... | AGGCGCCTGCCACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTAT... | pathogenic | 212,979 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32371000 in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGGCGCCTGCCACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTAT... | AGGCGCCTGCCACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTAT... | pathogenic | 212,980 |
Is the genetic change at chromosome 13, position 32371010, 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_cancer-predisposing_syndrome'] | CACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGA... | CACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGA... | pathogenic | 212,983 |
A genetic variant at chromosome 13, position 32371010, affecting gene BRCA2 (BRCA2 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | CACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGA... | CACCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGA... | pathogenic | 212,984 |
Does the variant on chromosome 13 at location 32371012 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACA... | CCACCCCTGGCTAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACA... | pathogenic | 212,985 |
Determine if the mutation at chromosome 13, position 32371023 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'] | TAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCT... | TAATTTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCT... | pathogenic | 212,988 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32371027, 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'] | TTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTT... | TTTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTT... | pathogenic | 212,991 |
Mutation at chromosome 13, position 32371028, within BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTG... | TTTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTG... | pathogenic | 212,992 |
Regarding the variant found on chromosome 13 at position 32371029 in gene BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGG... | TTTATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGG... | pathogenic | 212,993 |
Does the variant on chromosome 13 at location 32371032 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGAT... | ATTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGAT... | pathogenic | 212,997 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32371034: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | TTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAG... | TTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAG... | pathogenic | 213,000 |
Variant chromosome 13, position 32371037, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAA... | TAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAA... | pathogenic | 213,002 |
Is the variant located on chromosome 13 at position 32371042, 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', 'Malignant_tumor_of_breast'] | GAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAA... | GAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAA... | pathogenic | 213,005 |
The genetic variant at chromosome 13, position 32371043, 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', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Medulloblastoma', 'Pancreatic_cancer,_susceptibility_to,_2', 'Wilms_tumor_1'] | AGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAAA... | AGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAAA... | pathogenic | 213,007 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32371043: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | AGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAAA... | AGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAAA... | pathogenic | 213,008 |
Located at chromosome 13 position 32371052, the variant affecting gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAAATCTGGTGTT... | TTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAAATCTGGTGTT... | pathogenic | 213,010 |
Variant at chromosome position 32371052, chromosome 13, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAAATCTGGTGTT... | TTCACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAAATCTGGTGTT... | pathogenic | 213,012 |
Is chromosome 13, position 32371054, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAAATCTGGTGTTTC... | CACCATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAAATCTGGTGTTTC... | pathogenic | 213,013 |
Is the chromosome 13, position 32371058 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_cancer-predisposing_syndrome'] | ATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAAATCTGGTGTTTCAACT... | ATCTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAAATCTGGTGTTTCAACT... | pathogenic | 213,015 |
Mutation at chromosome 13, position 32371060, 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'] | CTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAAATCTGGTGTTTCAACTAC... | CTTGGCCAGGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAAATCTGGTGTTTCAACTAC... | pathogenic | 213,016 |
Is the variant located on chromosome 13 at position 32371068, 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'] | GGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAAATCTGGTGTTTCAACTACGTTTGTAC... | GGCTGGTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAAATCTGGTGTTTCAACTACGTTTGTAC... | pathogenic | 213,019 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32371073—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAAATCTGGTGTTTCAACTACGTTTGTACAAAAT... | GTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAAATCTGGTGTTTCAACTACGTTTGTACAAAAT... | pathogenic | 213,020 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32371073, 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'] | GTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAAATCTGGTGTTTCAACTACGTTTGTACAAAAT... | GTCTCCAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAGTTTTGTTTTCAATAATAGCATCTCACCCCCACCCTGGCTGCGTCTGCTCAGTATTCCAGAGTCCACGATATGTATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAAATCTGGTGTTTCAACTACGTTTGTACAAAAT... | pathogenic | 213,021 |
Clinical classification of chromosome 13, position 32371231, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | benign | TATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAAATCTGGTGTTTCAACTACGTTTGTACAAAATGTCAACCATTTCTTCCTATTTTCAGCCCCACCATATGCTCCTGCCTTCACAGGTACCTGTTGCCTCCAATTTCTGAGTGTTTTCCTTTAATTATTTTGTTTCATGTTAACTCCTTACAACAAGTTTGGTGGCTGAATAACCTTGGGCAAGTTGTGTAG... | TATGGTTCAGCCCTCCAGAAAATAAAGTCTCCTGCATTTTTTTTTTTAATGCTGCAGCAAGAATAGGGTCCTGGGTTCTTTTTTAGTATGAGGGAGAGACAGCCACCTGGCTACTTGGGATAGGAAAGAAAATCTGGTGTTTCAACTACGTTTGTACAAAATGTCAACCATTTCTTCCTATTTTCAGCCCCACCATATGCTCCTGCCTTCACAGGTACCTGTTGCCTCCAATTTCTGAGTGTTTTCCTTTAATTATTTTGTTTCATGTTAACTCCTTACAACAAGTTTGGTGGCTGAATAACCTTGGGCAAGTTGTGTAG... | benign | 213,036 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32372996: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TATTACAGTGGATGGAGAAGACATCATCTGGATTATACATATTTCGCAATGAAAGAGAGGAAGAAAAGGAAGCAGCAAAATATGTGGAGGCCCAACAAAAGAGACTAGAAGCCTTATTCACTAAAATTCAGGAGGAATTTGAAGAACATGAAGGTAAAATTAGTTATATGGTACACATTGTTATTTCTAATATGAGAACAAAGTCTTAGAGACTTTGAATTTAACATTTTTAATGAGTAAATTGTTTTTATTTTGAGTAGTAAATTGACTTTATTTTTTAGTATCTAGGGTATTCTTTTTTGGTGTTAGACAAAGAATAG... | TATTACAGTGGATGGAGAAGACATCATCTGGATTATACATATTTCGCAATGAAAGAGAGGAAGAAAAGGAAGCAGCAAAATATGTGGAGGCCCAACAAAAGAGACTAGAAGCCTTATTCACTAAAATTCAGGAGGAATTTGAAGAACATGAAGGTAAAATTAGTTATATGGTACACATTGTTATTTCTAATATGAGAACAAAGTCTTAGAGACTTTGAATTTAACATTTTTAATGAGTAAATTGTTTTTATTTTGAGTAGTAAATTGACTTTATTTTTTAGTATCTAGGGTATTCTTTTTTGGTGTTAGACAAAGAATAG... | benign | 213,050 |
For chromosome 13, position 32375563, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | AATAAAAAAAAATAATAAAAATAACTCCTAGCCTCAAGTGAGCCACTGCACCCAGGCCAGTCATTAAAGCTCTAAAATCTCCTTTGACTCCATGTCTCACATCCAGGGCATGCTGATATAAGGGGTGGGCTCCCACGGCCTTGGGCAGCTCTGCCCTTTGGCTCTTCAGTCTACAGCCCCTGCAGCTGCTTTCATGGGCTGCCATTGAGTGACAGCTGCACAGTGCAGGCTGTCAGTGGGGGATGATGGCCCTCTTCTCACAGCTCCACTAGGCAGTTCCCCACTGAGGACTGTGGGAGGTGGCTCCAACCCCGTATTTC... | AATAAAAAAAAATAATAAAAATAACTCCTAGCCTCAAGTGAGCCACTGCACCCAGGCCAGTCATTAAAGCTCTAAAATCTCCTTTGACTCCATGTCTCACATCCAGGGCATGCTGATATAAGGGGTGGGCTCCCACGGCCTTGGGCAGCTCTGCCCTTTGGCTCTTCAGTCTACAGCCCCTGCAGCTGCTTTCATGGGCTGCCATTGAGTGACAGCTGCACAGTGCAGGCTGTCAGTGGGGGATGATGGCCCTCTTCTCACAGCTCCACTAGGCAGTTCCCCACTGAGGACTGTGGGAGGTGGCTCCAACCCCGTATTTC... | benign | 213,060 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32375831, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | CTAGGCAGTTCCCCACTGAGGACTGTGGGAGGTGGCTCCAACCCCGTATTTCCCTCACAGTTTCCCTCCCGGTTTCCCTCCTGTACTGCACTAACAGAGGTTCTCTATGAGGGCTCTGCCCCCACAGCAGACTTGTGTGTGGACATCCTGGCACTTCCATACATCCTCTGAAATCTAGGCAGAGGCTCCCACAGCTGAACTCTTGTCTTCTACATACCCACAGGCCCAGCATCACATGGAGGCCACCAAGGCTTAGGGCTTGCACCCTCTCAAGCAATGGCCTGATCTGTACCTTGGCCCTTTTTATCAATGGCTGGAGC... | CTAGGCAGTTCCCCACTGAGGACTGTGGGAGGTGGCTCCAACCCCGTATTTCCCTCACAGTTTCCCTCCCGGTTTCCCTCCTGTACTGCACTAACAGAGGTTCTCTATGAGGGCTCTGCCCCCACAGCAGACTTGTGTGTGGACATCCTGGCACTTCCATACATCCTCTGAAATCTAGGCAGAGGCTCCCACAGCTGAACTCTTGTCTTCTACATACCCACAGGCCCAGCATCACATGGAGGCCACCAAGGCTTAGGGCTTGCACCCTCTCAAGCAATGGCCTGATCTGTACCTTGGCCCTTTTTATCAATGGCTGGAGC... | benign | 213,063 |
Is the genetic change at chromosome 13, position 32376115, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | benign | ATCTGTACCTTGGCCCTTTTTATCAATGGCTGGAGCTGGAGCAAGTGGGACACAGGTTGCCATGTCCCATGGCTGCACAGAGCAGTGGGGCCTTGGGCCCAGCCCACAAAACCATTTTTCCCTCCTAGGCCTCAAGGCCTGTGATAGAAGGGTCTACTGTGGAGATCTCTGACATGCCTTGGAGACACTGTCTCCATTGCCTTGGCTATTAACGTTTGTTTCCTTGTTACTTATGCAAACTTCTGCAGCTGGCTTGAATTCTTTCCCGGGAAATGGATTTTTCTTTTCTACTTCATGGTTAGGCTGCAGATTTTCCAAAC... | ATCTGTACCTTGGCCCTTTTTATCAATGGCTGGAGCTGGAGCAAGTGGGACACAGGTTGCCATGTCCCATGGCTGCACAGAGCAGTGGGGCCTTGGGCCCAGCCCACAAAACCATTTTTCCCTCCTAGGCCTCAAGGCCTGTGATAGAAGGGTCTACTGTGGAGATCTCTGACATGCCTTGGAGACACTGTCTCCATTGCCTTGGCTATTAACGTTTGTTTCCTTGTTACTTATGCAAACTTCTGCAGCTGGCTTGAATTCTTTCCCGGGAAATGGATTTTTCTTTTCTACTTCATGGTTAGGCTGCAGATTTTCCAAAC... | benign | 213,064 |
Variant at chromosome 13, position 32376642, gene BRCA2 (BRCA2 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTGCTCTAAAGCATAGCAAGAGTGACCTTTGCTCCAGTTCCCAATAAGATCCTCATCTCCATCTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATA... | TTTGCTCTAAAGCATAGCAAGAGTGACCTTTGCTCCAGTTCCCAATAAGATCCTCATCTCCATCTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATA... | pathogenic | 213,068 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome position 32376669 on chromosome 13: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Familial_prostate_cancer', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma', 'Pancreatic_cancer,_susceptibility_to,_2', 'Wilms_tumor_1'] | CTTTGCTCCAGTTCCCAATAAGATCCTCATCTCCATCTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAA... | CTTTGCTCCAGTTCCCAATAAGATCCTCATCTCCATCTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAA... | pathogenic | 213,079 |
Does the chromosome 13 mutation at position 32376671 within gene BRCA2 (BRCA2 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGCTCCAGTTCCCAATAAGATCCTCATCTCCATCTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAA... | TTGCTCCAGTTCCCAATAAGATCCTCATCTCCATCTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAA... | pathogenic | 213,080 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32376672—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGCTCCAGTTCCCAATAAGATCCTCATCTCCATCTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAA... | TGCTCCAGTTCCCAATAAGATCCTCATCTCCATCTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAA... | pathogenic | 213,081 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32376678: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AGTTCCCAATAAGATCCTCATCTCCATCTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTA... | AGTTCCCAATAAGATCCTCATCTCCATCTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTA... | pathogenic | 213,083 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32376679, 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'] | GTTCCCAATAAGATCCTCATCTCCATCTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAA... | GTTCCCAATAAGATCCTCATCTCCATCTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAA... | pathogenic | 213,084 |
Is chromosome 13, position 32376679, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | GTTCCCAATAAGATCCTCATCTCCATCTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAA... | GTTCCCAATAAGATCCTCATCTCCATCTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAA... | pathogenic | 213,085 |
Variant on chromosome 13, at position 32376681, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | TCCCAATAAGATCCTCATCTCCATCTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATT... | TCCCAATAAGATCCTCATCTCCATCTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATT... | pathogenic | 213,088 |
Located at chromosome 13 position 32376683, 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'] | CCAATAAGATCCTCATCTCCATCTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGA... | CCAATAAGATCCTCATCTCCATCTGAGACCACCTCAGGCTGGACTTCACTGGCCACATCACTGTCAGAATTTTGGTCAAAACCATTCAACAAGTCTCTAGGGAGTTCCAGACTTTCCCACATCTTCCTGTCTTCTTCTGAGCCCTCCAAACTCTTCCAATCTCTGCCTGTTGTCTAGTTCCAAAGTCACTTCCACATTTTCAGGTTATCGGTATAGCAGTCCCCCACTCCTGGTAACAATTATCTGTATTAGTTCATCCTCATACTGCTATAAAAAATACCTGAGACTGGGTAATTTGTAAAGGAAAAAGGTTTAATTGA... | pathogenic | 213,089 |
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