question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32341168—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CCAAAGTGTAAAGAAATGCAGAATTCTCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGA... | CCAAAGTGTAAAGAAATGCAGAATTCTCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGA... | pathogenic | 211,741 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32341168—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_D1', 'Glioma_susceptibility_3', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditar... | CCAAAGTGTAAAGAAATGCAGAATTCTCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGA... | CCAAAGTGTAAAGAAATGCAGAATTCTCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGA... | pathogenic | 211,742 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32341169—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CAAAGTGTAAAGAAATGCAGAATTCTCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAA... | CAAAGTGTAAAGAAATGCAGAATTCTCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAA... | pathogenic | 211,744 |
A mutation at chromosome position 32341170 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', 'Hereditary_cancer-predisposing_syndrome'] | AAAGTGTAAAGAAATGCAGAATTCTCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAAG... | AAAGTGTAAAGAAATGCAGAATTCTCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAAG... | pathogenic | 211,745 |
Does the chromosome 13 mutation at position 32341176 within gene BRCA2 (BRCA2 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAAAGAAATGCAGAATTCTCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAAGGAATAT... | TAAAGAAATGCAGAATTCTCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAAGGAATAT... | pathogenic | 211,746 |
A genetic variant on chromosome 13, position 32341178, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | AAGAAATGCAGAATTCTCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAAGGAATATTT... | AAGAAATGCAGAATTCTCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAAGGAATATTT... | pathogenic | 211,747 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32341179—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AGAAATGCAGAATTCTCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAAGGAATATTTG... | AGAAATGCAGAATTCTCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAAGGAATATTTG... | pathogenic | 211,748 |
Variant chromosome 13, position 32341183, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['BRCA2-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATGCAGAATTCTCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAAGGAATATTTGATGG... | ATGCAGAATTCTCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAAGGAATATTTGATGG... | pathogenic | 211,751 |
Is the chromosome 13, position 32341186 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGAATTCTCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAAGGAATATTTGATGGTCA... | CAGAATTCTCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAAGGAATATTTGATGGTCA... | pathogenic | 211,753 |
The chromosome 13, position 32341191 genetic variant in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_cancer-predisposing_syndrome'] | TTCTCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAAGGAATATTTGATGGTCAACCAG... | TTCTCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAAGGAATATTTGATGGTCAACCAG... | pathogenic | 211,755 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32341194—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | TCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAAGGAATATTTGATGGTCAACCAGAAA... | TCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAAGGAATATTTGATGGTCAACCAGAAA... | pathogenic | 211,756 |
Clinical significance of chromosome 13, position 32341194, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAAGGAATATTTGATGGTCAACCAGAAA... | TCTCAATAATGATAAAAACCTTGTTTCTATTGAGACTGTGGTGCCACCTAAGCTCTTAAGTGATAATTTATGTAGACAAACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAAGGAATATTTGATGGTCAACCAGAAA... | pathogenic | 211,757 |
Is the chromosome 13, position 32341273 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | ACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAAGGAATATTTGATGGTCAACCAGAAAGAATAAATACTGCAGATTATGTAGGAAATTATTTGTATGAAAATAATTCAAACAGTACTATAGCTGAAAATGACAAAAA... | ACTGAAAATCTCAAAACATCAAAAAGTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGCAACTTGTTACACAAATCAGTCCCCTTATTCAGTCATTGAAAATTCAGCCTTAGCTTTTTACACAAGTTGTAGTAGAAAAACTTCTGTGAGTCAGACTTCATTACTTGAAGCAAAAAAATGGCTTAGAGAAGGAATATTTGATGGTCAACCAGAAAGAATAAATACTGCAGATTATGTAGGAAATTATTTGTATGAAAATAATTCAAACAGTACTATAGCTGAAAATGACAAAAA... | benign | 211,765 |
Variant chromosome 13, position 32342270, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | benign | ATATATGTAAATGTAGTATAGGGAAGCTTCATAAGTCAGTCTCATCTGCAAATACTTGTGGGATTTTTAGCACAGCAAGTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAGACAAGTGTTTTCTGAAATAGAAGATAGTACCAAGCAAGTCTTTTCCAAAGTATTGTTTAAAAGTAACGAACATTCAGACCAGCTCACAAGAGAAGAAAATACTGCTATACGTACTCCAGAACATTTAATATCCCAAAAAGGCTTTTCATATAATGTGGTAAATTCATCTGCTTTCTCTGGATTTAGTACAGCAAGT... | ATATATGTAAATGTAGTATAGGGAAGCTTCATAAGTCAGTCTCATCTGCAAATACTTGTGGGATTTTTAGCACAGCAAGTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAGACAAGTGTTTTCTGAAATAGAAGATAGTACCAAGCAAGTCTTTTCCAAAGTATTGTTTAAAAGTAACGAACATTCAGACCAGCTCACAAGAGAAGAAAATACTGCTATACGTACTCCAGAACATTTAATATCCCAAAAAGGCTTTTCATATAATGTGGTAAATTCATCTGCTTTCTCTGGATTTAGTACAGCAAGT... | benign | 211,774 |
The genetic variant at chromosome 13, position 32343048, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | benign | CTCCAAAGATTCAGAAAACTACTTTGAAACAGAAGCAGTAGAAATTGCTAAAGCTTTTATGGAAGATGATGAACTGACAGATTCTAAACTGCCAAGTCATGCCACACATTCTCTTTTTACATGTCCCGAAAATGAGGAAATGGTTTTGTCAAATTCAAGAATTGGAAAAAGAAGAGGAGAGCCCCTTATCTTAGTGGGTAAGTGTTCATTTTTACCTTTCGTGTTGCCAATCACTATTTTTAAAGTGTTTATTCAGTAGACTTGGTATGCTAACAATTAAGAGTGTTATAAACTATGTCTTTTCAGCCATTTTTGTGTAG... | CTCCAAAGATTCAGAAAACTACTTTGAAACAGAAGCAGTAGAAATTGCTAAAGCTTTTATGGAAGATGATGAACTGACAGATTCTAAACTGCCAAGTCATGCCACACATTCTCTTTTTACATGTCCCGAAAATGAGGAAATGGTTTTGTCAAATTCAAGAATTGGAAAAAGAAGAGGAGAGCCCCTTATCTTAGTGGGTAAGTGTTCATTTTTACCTTTCGTGTTGCCAATCACTATTTTTAAAGTGTTTATTCAGTAGACTTGGTATGCTAACAATTAAGAGTGTTATAAACTATGTCTTTTCAGCCATTTTTGTGTAG... | benign | 211,781 |
Variant chromosome 13, position 32343709, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s)? | benign | TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTTGGTTTCCGATTATACCATTTACTGGGTAATATATACTACTTAGTTACACTACTTACATAGCTTCAGTTTCCTTATCTATAAAATGCAAATAACAC... | TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTTGGTTTCCGATTATACCATTTACTGGGTAATATATACTACTTAGTTACACTACTTACATAGCTTCAGTTTCCTTATCTATAAAATGCAAATAACAC... | benign | 211,786 |
Variant at chromosome 13, position 32343709, gene BRCA2 (BRCA2 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTTGGTTTCCGATTATACCATTTACTGGGTAATATATACTACTTAGTTACACTACTTACATAGCTTCAGTTTCCTTATCTATAAAATGCAAATAACAC... | TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTTGGTTTCCGATTATACCATTTACTGGGTAATATATACTACTTAGTTACACTACTTACATAGCTTCAGTTTCCTTATCTATAAAATGCAAATAACAC... | benign | 211,787 |
Is the genetic change at chromosome 13, position 32344166, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | benign | AAAAAATTAGCCAAGCGTGGTGGCGCGCACCTATAATCCCAACTACTCCAGAAGCTGAGGCAGGAGAATCACCTGAACCTGGGAGGTGGAGGGTGCAGTGAGCTGACATCACACCACTGCTCTCCAGCCTGGGCAACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAGTGTATTTAAAGCACTTAGCAGTGAACTTGACATATAGTAGGCAGAGAGCATTCAGTAAGTGTTGGCTTGCTCCCTTTTTTTCATTTAGGAAGTGATCTAAAAACAGTATTGTTAGTAAATGGTATCTTGATCTTAATGTTATGTGGAC... | AAAAAATTAGCCAAGCGTGGTGGCGCGCACCTATAATCCCAACTACTCCAGAAGCTGAGGCAGGAGAATCACCTGAACCTGGGAGGTGGAGGGTGCAGTGAGCTGACATCACACCACTGCTCTCCAGCCTGGGCAACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAGTGTATTTAAAGCACTTAGCAGTGAACTTGACATATAGTAGGCAGAGAGCATTCAGTAAGTGTTGGCTTGCTCCCTTTTTTTCATTTAGGAAGTGATCTAAAAACAGTATTGTTAGTAAATGGTATCTTGATCTTAATGTTATGTGGAC... | benign | 211,790 |
Determine if the mutation at chromosome 13, position 32344366 in gene BRCA2 (BRCA2 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GACATATAGTAGGCAGAGAGCATTCAGTAAGTGTTGGCTTGCTCCCTTTTTTTCATTTAGGAAGTGATCTAAAAACAGTATTGTTAGTAAATGGTATCTTGATCTTAATGTTATGTGGACTATTTTAACTTCCCTTTTAAATGTATATATATCTAACAACTTAGTTCAACTACAGTCATGTGTCATTTGACAGGGATATATGTTCTGAGAAATAGATTGTTAGATTTCATCATTGTGGGAACATCATAGAGTATACTTACACAAACCTAGGTGGTATAGCCTACTATATACCTAGGCTGTATGGTATAGCTTATTGCTCC... | GACATATAGTAGGCAGAGAGCATTCAGTAAGTGTTGGCTTGCTCCCTTTTTTTCATTTAGGAAGTGATCTAAAAACAGTATTGTTAGTAAATGGTATCTTGATCTTAATGTTATGTGGACTATTTTAACTTCCCTTTTAAATGTATATATATCTAACAACTTAGTTCAACTACAGTCATGTGTCATTTGACAGGGATATATGTTCTGAGAAATAGATTGTTAGATTTCATCATTGTGGGAACATCATAGAGTATACTTACACAAACCTAGGTGGTATAGCCTACTATATACCTAGGCTGTATGGTATAGCTTATTGCTCC... | benign | 211,793 |
Evaluate this variant at chromosome 13, position 32344562, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TATATGTTCTGAGAAATAGATTGTTAGATTTCATCATTGTGGGAACATCATAGAGTATACTTACACAAACCTAGGTGGTATAGCCTACTATATACCTAGGCTGTATGGTATAGCTTATTGCTCCTAGGCTGCAAACCTATACAGCATGTTACTGTCCTGAATACTCTAGGCAGTTTTAACACAGTGGCAAGCATTTGTGTATGTGAACATAGAAAAGGTACAGTAAAAATACGGTATTAAAATCTTATGGGGCTGGGCTCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGG... | TATATGTTCTGAGAAATAGATTGTTAGATTTCATCATTGTGGGAACATCATAGAGTATACTTACACAAACCTAGGTGGTATAGCCTACTATATACCTAGGCTGTATGGTATAGCTTATTGCTCCTAGGCTGCAAACCTATACAGCATGTTACTGTCCTGAATACTCTAGGCAGTTTTAACACAGTGGCAAGCATTTGTGTATGTGAACATAGAAAAGGTACAGTAAAAATACGGTATTAAAATCTTATGGGGCTGGGCTCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGG... | pathogenic | 211,802 |
Is chromosome 13, position 32344571, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGAGAAATAGATTGTTAGATTTCATCATTGTGGGAACATCATAGAGTATACTTACACAAACCTAGGTGGTATAGCCTACTATATACCTAGGCTGTATGGTATAGCTTATTGCTCCTAGGCTGCAAACCTATACAGCATGTTACTGTCCTGAATACTCTAGGCAGTTTTAACACAGTGGCAAGCATTTGTGTATGTGAACATAGAAAAGGTACAGTAAAAATACGGTATTAAAATCTTATGGGGCTGGGCTCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTT... | TGAGAAATAGATTGTTAGATTTCATCATTGTGGGAACATCATAGAGTATACTTACACAAACCTAGGTGGTATAGCCTACTATATACCTAGGCTGTATGGTATAGCTTATTGCTCCTAGGCTGCAAACCTATACAGCATGTTACTGTCCTGAATACTCTAGGCAGTTTTAACACAGTGGCAAGCATTTGTGTATGTGAACATAGAAAAGGTACAGTAAAAATACGGTATTAAAATCTTATGGGGCTGGGCTCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTT... | pathogenic | 211,805 |
Regarding the variant found on chromosome 13 at position 32344579 in gene BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGATTGTTAGATTTCATCATTGTGGGAACATCATAGAGTATACTTACACAAACCTAGGTGGTATAGCCTACTATATACCTAGGCTGTATGGTATAGCTTATTGCTCCTAGGCTGCAAACCTATACAGCATGTTACTGTCCTGAATACTCTAGGCAGTTTTAACACAGTGGCAAGCATTTGTGTATGTGAACATAGAAAAGGTACAGTAAAAATACGGTATTAAAATCTTATGGGGCTGGGCTCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCA... | AGATTGTTAGATTTCATCATTGTGGGAACATCATAGAGTATACTTACACAAACCTAGGTGGTATAGCCTACTATATACCTAGGCTGTATGGTATAGCTTATTGCTCCTAGGCTGCAAACCTATACAGCATGTTACTGTCCTGAATACTCTAGGCAGTTTTAACACAGTGGCAAGCATTTGTGTATGTGAACATAGAAAAGGTACAGTAAAAATACGGTATTAAAATCTTATGGGGCTGGGCTCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCA... | pathogenic | 211,807 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32344580—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | GATTGTTAGATTTCATCATTGTGGGAACATCATAGAGTATACTTACACAAACCTAGGTGGTATAGCCTACTATATACCTAGGCTGTATGGTATAGCTTATTGCTCCTAGGCTGCAAACCTATACAGCATGTTACTGTCCTGAATACTCTAGGCAGTTTTAACACAGTGGCAAGCATTTGTGTATGTGAACATAGAAAAGGTACAGTAAAAATACGGTATTAAAATCTTATGGGGCTGGGCTCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAG... | GATTGTTAGATTTCATCATTGTGGGAACATCATAGAGTATACTTACACAAACCTAGGTGGTATAGCCTACTATATACCTAGGCTGTATGGTATAGCTTATTGCTCCTAGGCTGCAAACCTATACAGCATGTTACTGTCCTGAATACTCTAGGCAGTTTTAACACAGTGGCAAGCATTTGTGTATGTGAACATAGAAAAGGTACAGTAAAAATACGGTATTAAAATCTTATGGGGCTGGGCTCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAG... | pathogenic | 211,808 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32344592—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'] | TCATCATTGTGGGAACATCATAGAGTATACTTACACAAACCTAGGTGGTATAGCCTACTATATACCTAGGCTGTATGGTATAGCTTATTGCTCCTAGGCTGCAAACCTATACAGCATGTTACTGTCCTGAATACTCTAGGCAGTTTTAACACAGTGGCAAGCATTTGTGTATGTGAACATAGAAAAGGTACAGTAAAAATACGGTATTAAAATCTTATGGGGCTGGGCTCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAT... | TCATCATTGTGGGAACATCATAGAGTATACTTACACAAACCTAGGTGGTATAGCCTACTATATACCTAGGCTGTATGGTATAGCTTATTGCTCCTAGGCTGCAAACCTATACAGCATGTTACTGTCCTGAATACTCTAGGCAGTTTTAACACAGTGGCAAGCATTTGTGTATGTGAACATAGAAAAGGTACAGTAAAAATACGGTATTAAAATCTTATGGGGCTGGGCTCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAT... | pathogenic | 211,811 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32344608—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATCATAGAGTATACTTACACAAACCTAGGTGGTATAGCCTACTATATACCTAGGCTGTATGGTATAGCTTATTGCTCCTAGGCTGCAAACCTATACAGCATGTTACTGTCCTGAATACTCTAGGCAGTTTTAACACAGTGGCAAGCATTTGTGTATGTGAACATAGAAAAGGTACAGTAAAAATACGGTATTAAAATCTTATGGGGCTGGGCTCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTTGTCTC... | ATCATAGAGTATACTTACACAAACCTAGGTGGTATAGCCTACTATATACCTAGGCTGTATGGTATAGCTTATTGCTCCTAGGCTGCAAACCTATACAGCATGTTACTGTCCTGAATACTCTAGGCAGTTTTAACACAGTGGCAAGCATTTGTGTATGTGAACATAGAAAAGGTACAGTAAAAATACGGTATTAAAATCTTATGGGGCTGGGCTCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTTGTCTC... | pathogenic | 211,813 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32346184, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | benign | ACTCCTTCAGTTAATGGCTGCCCCCGTGCTGAAAAAAAAAAAAAAAAAGAGAGAAAAAGTTTATTTGAAGAAATTTTGTTAGGCCTTATTGCCAGTAAACCTAGAGTTATATTTAGTGTCAGTTTTTCAAAAAGTAGCTTATCTGTGGTATCTGGTAGCATCTGTTTATCCTATTTAGGATTTATCCTGTTTAGACCCTGTTAAATAGTGGTGTTTTAAAGTGGTCAAAACAGAACAAAAATGTAATTGACATTGAAGACTGACTTTACTCTTTCAAACATTAGGTCACTATTTGTTGTAAGTATTTTTGTTTAACATTT... | ACTCCTTCAGTTAATGGCTGCCCCCGTGCTGAAAAAAAAAAAAAAAAAGAGAGAAAAAGTTTATTTGAAGAAATTTTGTTAGGCCTTATTGCCAGTAAACCTAGAGTTATATTTAGTGTCAGTTTTTCAAAAAGTAGCTTATCTGTGGTATCTGGTAGCATCTGTTTATCCTATTTAGGATTTATCCTGTTTAGACCCTGTTAAATAGTGGTGTTTTAAAGTGGTCAAAACAGAACAAAAATGTAATTGACATTGAAGACTGACTTTACTCTTTCAAACATTAGGTCACTATTTGTTGTAAGTATTTTTGTTTAACATTT... | benign | 211,842 |
Variant in gene BRCA2 (BRCA2 DNA repair associated), located at chromosome 13 position 32346795: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TGGGATTACAGACATGAGCCACTGTGCCTAATCAAGGACCTCTTTATACTCTTAAAAATTACTGAGGACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACA... | TGGGATTACAGACATGAGCCACTGTGCCTAATCAAGGACCTCTTTATACTCTTAAAAATTACTGAGGACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACA... | benign | 211,848 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32346806: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ACATGAGCCACTGTGCCTAATCAAGGACCTCTTTATACTCTTAAAAATTACTGAGGACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAA... | ACATGAGCCACTGTGCCTAATCAAGGACCTCTTTATACTCTTAAAAATTACTGAGGACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAA... | benign | 211,849 |
Mutation found at chromosome 13 position 32346821, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CCTAATCAAGGACCTCTTTATACTCTTAAAAATTACTGAGGACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCAT... | CCTAATCAAGGACCTCTTTATACTCTTAAAAATTACTGAGGACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCAT... | benign | 211,851 |
Chromosome 13, position 32346829, 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', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | AGGACCTCTTTATACTCTTAAAAATTACTGAGGACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGC... | AGGACCTCTTTATACTCTTAAAAATTACTGAGGACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGC... | pathogenic | 211,857 |
The genetic variant at chromosome 13, position 32346830, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGACCTCTTTATACTCTTAAAAATTACTGAGGACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCT... | GGACCTCTTTATACTCTTAAAAATTACTGAGGACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCT... | pathogenic | 211,858 |
Does the variant on chromosome 13 at location 32346834 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'] | CTCTTTATACTCTTAAAAATTACTGAGGACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAA... | CTCTTTATACTCTTAAAAATTACTGAGGACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAA... | pathogenic | 211,860 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32346836—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | CTTTATACTCTTAAAAATTACTGAGGACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATT... | CTTTATACTCTTAAAAATTACTGAGGACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATT... | pathogenic | 211,861 |
Regarding the variant found on chromosome 13 at position 32346837 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'] | TTTATACTCTTAAAAATTACTGAGGACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTT... | TTTATACTCTTAAAAATTACTGAGGACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTT... | pathogenic | 211,862 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32346846, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTAAAAATTACTGAGGACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGC... | TTAAAAATTACTGAGGACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGC... | pathogenic | 211,868 |
Is chromosome 13, position 32346848, 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'] | AAAAATTACTGAGGACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAA... | AAAAATTACTGAGGACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAA... | pathogenic | 211,871 |
Clinical significance of chromosome 13, position 32346862, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | ACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACT... | ACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACT... | pathogenic | 211,875 |
A genetic variant on chromosome 13, position 32346862, 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'] | ACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACT... | ACCTAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACT... | pathogenic | 211,876 |
Variant on chromosome 13, at position 32346865, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTAT... | TAAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTAT... | pathogenic | 211,878 |
Does the variant on chromosome 13 at location 32346866 affecting gene BRCA2 (BRCA2 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Inherited_ovarian_cancer_(without_breast_cancer)'] | AAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATT... | AAAAGAGCATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATT... | pathogenic | 211,879 |
Clinical classification of chromosome 13, position 32346874, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGT... | ATTTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGT... | pathogenic | 211,883 |
Considering the variant on chromosome 13, location 32346876, 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; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAG... | TTGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAG... | pathogenic | 211,886 |
A mutation at chromosome position 32346877 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', 'Hereditary_cancer-predisposing_syndrome'] | TGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGG... | TGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGG... | pathogenic | 211,887 |
Does the genetic variant at chromosome 13, position 32346877, impacting gene BRCA2 (BRCA2 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGG... | TGTTTATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGG... | pathogenic | 211,888 |
Considering the genetic mutation at chromosome 13, position 32346882, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACA... | ATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACA... | pathogenic | 211,890 |
Does the genetic variant at chromosome 13, position 32346882, impacting gene BRCA2 (BRCA2 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACA... | ATGTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACA... | pathogenic | 211,891 |
Chromosome 13, position 32346884, gene BRCA2 (BRCA2 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAG... | GTGGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAG... | pathogenic | 211,892 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32346886, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCT... | GGAATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCT... | pathogenic | 211,894 |
Evaluate this variant at chromosome 13, position 32346888, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTA... | AATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTA... | pathogenic | 211,895 |
Is the genetic variant on chromosome 13, position 32346888, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTA... | AATATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTA... | pathogenic | 211,896 |
Does the chromosome 13 mutation at position 32346891 within gene BRCA2 (BRCA2 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTT... | ATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTT... | pathogenic | 211,898 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32346891, 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'] | ATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTT... | ATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTT... | pathogenic | 211,899 |
Regarding the variant found on chromosome 13 at position 32346891 in gene BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTT... | ATATCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTT... | pathogenic | 211,900 |
Benign or pathogenic: chromosome 13, position 32346894, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTTTCA... | TCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTTTCA... | pathogenic | 211,902 |
Does the chromosome 13 mutation at position 32346894 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'] | TCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTTTCA... | TCTATTGATATTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTTTCA... | pathogenic | 211,903 |
Is the chromosome 13, position 32346904 variant in BRCA2 (BRCA2 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTTTCATTCATTTTTG... | TTTACCATATTAGAAATGTAAATTGATTAATGTTAAAATTAGTAATATTATGCGTTGGTCATTTGGAAGATATGAGTTCACTGAGTTATGCGGATCTTCCGAAAGTTGACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTTTCATTCATTTTTG... | benign | 211,912 |
Variant at chromosome 13, position 32347011, gene BRCA2 (BRCA2 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | GACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTTTCATTCATTTTTGAAAAGATGTCTGCCGAATACCCAAGTCTGAATAACTATAGTTTGTTGGTTATTCTTTCAAGTAAAAGGTATTTCATGAAAAAATAGCTAGTATAGCTCACAACTCAA... | GACAGTTTTATTATGCAGTATTAAACAATCACTTTCATTGATGCCATTACCGATCAGAAAAGTTTAAGTAGTAGAAAGCTGTCAAGCTTACAGAGCCAGATACAAGCTTCCCAAAAATTCTGATTTTCATCTAAAAGCTTGAATTTTTCCCCGGCAATAAGTATTGTCACTTATTTTTCTTGTAGGTGACAAGCTTATTTTCATTCATTTTTGAAAAGATGTCTGCCGAATACCCAAGTCTGAATAACTATAGTTTGTTGGTTATTCTTTCAAGTAAAAGGTATTTCATGAAAAAATAGCTAGTATAGCTCACAACTCAA... | benign | 211,914 |
Variant on chromosome 13, at position 32347734, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TCTGGGGATAGGACTCAAGTCTAAACACGAAATTTATTTAAGTTTCATAAACACCTTATACATATAACTTAAATGTAATTTTATACAATATTTTAAATAATTTTTGCATAAGACAATTTAAATTGTGATCCATCACATGAGGTCAGATGTGGAATTTTCTACTGGCCTCATGTTGGCACTCAAAAAGTTTCAGGTTTGTGACCATTTTGGATTTTCAGATTAGGGATACTCAACCCATATATTATTAAGAATGTTTAGTCAAAATACTGTGTTCAAATGTCACTCAAAATAATTCTTCCGGATGTGGTTACCAATTTGAT... | TCTGGGGATAGGACTCAAGTCTAAACACGAAATTTATTTAAGTTTCATAAACACCTTATACATATAACTTAAATGTAATTTTATACAATATTTTAAATAATTTTTGCATAAGACAATTTAAATTGTGATCCATCACATGAGGTCAGATGTGGAATTTTCTACTGGCCTCATGTTGGCACTCAAAAAGTTTCAGGTTTGTGACCATTTTGGATTTTCAGATTAGGGATACTCAACCCATATATTATTAAGAATGTTTAGTCAAAATACTGTGTTCAAATGTCACTCAAAATAATTCTTCCGGATGTGGTTACCAATTTGAT... | benign | 211,920 |
Located at chromosome 13 position 32348048, the variant affecting gene BRCA2 (BRCA2 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TTTGATAATTAGGTTACATTCCTTTTTTTCCATTTGTTTTCAATTTTAGGATTTGTCTTTTCTTATTTAATTTTACATTTGAATAAATAAAACATTACATAGTTCATTCATCAGAACTACAAAAAGGTATACTTAGAGTTTTTATTCACCCACCTCTTGCTTACTATAGGTAATCTTTTTTAGTGTTTTTTTTTCAGGATTCTGTTTAATAAAAATAAGCAAATACATGTATATACTCATTACCCTTTCTTACTCAAAAGATACAGTATATACACCATTTTGCACCTTGTTTATTGGTTGTTGTTTACTTAAGAATTATT... | TTTGATAATTAGGTTACATTCCTTTTTTTCCATTTGTTTTCAATTTTAGGATTTGTCTTTTCTTATTTAATTTTACATTTGAATAAATAAAACATTACATAGTTCATTCATCAGAACTACAAAAAGGTATACTTAGAGTTTTTATTCACCCACCTCTTGCTTACTATAGGTAATCTTTTTTAGTGTTTTTTTTTCAGGATTCTGTTTAATAAAAATAAGCAAATACATGTATATACTCATTACCCTTTCTTACTCAAAAGATACAGTATATACACCATTTTGCACCTTGTTTATTGGTTGTTGTTTACTTAAGAATTATT... | benign | 211,924 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32348066—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TTCCTTTTTTTCCATTTGTTTTCAATTTTAGGATTTGTCTTTTCTTATTTAATTTTACATTTGAATAAATAAAACATTACATAGTTCATTCATCAGAACTACAAAAAGGTATACTTAGAGTTTTTATTCACCCACCTCTTGCTTACTATAGGTAATCTTTTTTAGTGTTTTTTTTTCAGGATTCTGTTTAATAAAAATAAGCAAATACATGTATATACTCATTACCCTTTCTTACTCAAAAGATACAGTATATACACCATTTTGCACCTTGTTTATTGGTTGTTGTTTACTTAAGAATTATTTGGAGATGACTCCTTAAT... | TTCCTTTTTTTCCATTTGTTTTCAATTTTAGGATTTGTCTTTTCTTATTTAATTTTACATTTGAATAAATAAAACATTACATAGTTCATTCATCAGAACTACAAAAAGGTATACTTAGAGTTTTTATTCACCCACCTCTTGCTTACTATAGGTAATCTTTTTTAGTGTTTTTTTTTCAGGATTCTGTTTAATAAAAATAAGCAAATACATGTATATACTCATTACCCTTTCTTACTCAAAAGATACAGTATATACACCATTTTGCACCTTGTTTATTGGTTGTTGTTTACTTAAGAATTATTTGGAGATGACTCCTTAAT... | benign | 211,925 |
Is chromosome 13, position 32349216, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | CGAATCAGTTAACAAAAAGATTGCAGATATTAAAAATATCCTTTTATCTCTCCTCTCTAAACCTTTAAAAAAGTACTAAGATAGTTTTTTTAATGTATAATTCCCAAGGACAATGATGAGAAGAAACAACAAAAGTTTGGAAGCCAAAAACATAAAGGATTTAGTAAGCATGAGAAAGCTAAAACCTGACACTAGAGCAAACAGAGATGCTTTCCCCTAAAAAACCTGAAAAAGATTCAAATTGGCAGCAACAGGTACTTCTGAAGGTGAAGTAGAAAATAGGAAGATTAGTTGAAATTCTTTTTAAGAAACATCTATAT... | CGAATCAGTTAACAAAAAGATTGCAGATATTAAAAATATCCTTTTATCTCTCCTCTCTAAACCTTTAAAAAAGTACTAAGATAGTTTTTTTAATGTATAATTCCCAAGGACAATGATGAGAAGAAACAACAAAAGTTTGGAAGCCAAAAACATAAAGGATTTAGTAAGCATGAGAAAGCTAAAACCTGACACTAGAGCAAACAGAGATGCTTTCCCCTAAAAAACCTGAAAAAGATTCAAATTGGCAGCAACAGGTACTTCTGAAGGTGAAGTAGAAAATAGGAAGATTAGTTGAAATTCTTTTTAAGAAACATCTATAT... | benign | 211,931 |
Variant on chromosome 13, at position 32349322, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | AGGACAATGATGAGAAGAAACAACAAAAGTTTGGAAGCCAAAAACATAAAGGATTTAGTAAGCATGAGAAAGCTAAAACCTGACACTAGAGCAAACAGAGATGCTTTCCCCTAAAAAACCTGAAAAAGATTCAAATTGGCAGCAACAGGTACTTCTGAAGGTGAAGTAGAAAATAGGAAGATTAGTTGAAATTCTTTTTAAGAAACATCTATATTTCCTCCCCCACTGCAAATAGGCGGTTATCCTTCTTCTGCCAGGAAATCAGAAGGTTGTTCTTGAAAAAGATGAATTGAGAGGATTCTGAATTGAAGGTGGGCTGG... | AGGACAATGATGAGAAGAAACAACAAAAGTTTGGAAGCCAAAAACATAAAGGATTTAGTAAGCATGAGAAAGCTAAAACCTGACACTAGAGCAAACAGAGATGCTTTCCCCTAAAAAACCTGAAAAAGATTCAAATTGGCAGCAACAGGTACTTCTGAAGGTGAAGTAGAAAATAGGAAGATTAGTTGAAATTCTTTTTAAGAAACATCTATATTTCCTCCCCCACTGCAAATAGGCGGTTATCCTTCTTCTGCCAGGAAATCAGAAGGTTGTTCTTGAAAAAGATGAATTGAGAGGATTCTGAATTGAAGGTGGGCTGG... | benign | 211,932 |
Considering the genetic mutation at chromosome 13, position 32349323, impacting BRCA2 (BRCA2 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GGACAATGATGAGAAGAAACAACAAAAGTTTGGAAGCCAAAAACATAAAGGATTTAGTAAGCATGAGAAAGCTAAAACCTGACACTAGAGCAAACAGAGATGCTTTCCCCTAAAAAACCTGAAAAAGATTCAAATTGGCAGCAACAGGTACTTCTGAAGGTGAAGTAGAAAATAGGAAGATTAGTTGAAATTCTTTTTAAGAAACATCTATATTTCCTCCCCCACTGCAAATAGGCGGTTATCCTTCTTCTGCCAGGAAATCAGAAGGTTGTTCTTGAAAAAGATGAATTGAGAGGATTCTGAATTGAAGGTGGGCTGGA... | GGACAATGATGAGAAGAAACAACAAAAGTTTGGAAGCCAAAAACATAAAGGATTTAGTAAGCATGAGAAAGCTAAAACCTGACACTAGAGCAAACAGAGATGCTTTCCCCTAAAAAACCTGAAAAAGATTCAAATTGGCAGCAACAGGTACTTCTGAAGGTGAAGTAGAAAATAGGAAGATTAGTTGAAATTCTTTTTAAGAAACATCTATATTTCCTCCCCCACTGCAAATAGGCGGTTATCCTTCTTCTGCCAGGAAATCAGAAGGTTGTTCTTGAAAAAGATGAATTGAGAGGATTCTGAATTGAAGGTGGGCTGGA... | benign | 211,933 |
Evaluate this variant at chromosome 13, position 32349814, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | ATAGAAAAGACCAAAAAATACTGACAGTTGAGGATACTCAGATGAAACAGTATAGCCAGTCACCAGACCAGGAAGTTAACTGTTGACATGCACAGAGCTTCCAGGAAGCTACTTAGTGCTTCACTTTTAAATAAGAAAAGATAGTCAAAGATAACTAGTCATTGGAAGAAAGCTACTATGAAACATAGTCACCAAAGTACAAAATCCATAGCAGAAAGGAACCTAGAGGAAATCGACTATGAAAACTTCATAAAAACCTACTAATATTCTCAGGTAAGAAAAGAAAAAATGGCCGTAAAATAAGAACAAGTTGCTATAAA... | ATAGAAAAGACCAAAAAATACTGACAGTTGAGGATACTCAGATGAAACAGTATAGCCAGTCACCAGACCAGGAAGTTAACTGTTGACATGCACAGAGCTTCCAGGAAGCTACTTAGTGCTTCACTTTTAAATAAGAAAAGATAGTCAAAGATAACTAGTCATTGGAAGAAAGCTACTATGAAACATAGTCACCAAAGTACAAAATCCATAGCAGAAAGGAACCTAGAGGAAATCGACTATGAAAACTTCATAAAAACCTACTAATATTCTCAGGTAAGAAAAGAAAAAATGGCCGTAAAATAAGAACAAGTTGCTATAAA... | benign | 211,939 |
Variant on chromosome 13, at position 32350294, affecting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GGCACAGAAGAGAAATGAAGAAAGAAATTTTAAAATAAATACATAATTTTAAAAGTTCTACTAGTACTGAAGGACATGAGTTTCCTTAATTAAAAGGGCCCACTGAGTGAGCACACAAGTAAAAATGACCCACAGTAAGGCACATCCTTGTGAATTTTTAGAATAATAGAGGCAGACAGGAACCTTAAATTCATTAGAGGACCAAGAAGTTAGGTTTCAAATTGTTTCAAGCCATAATAGTATGAATTCTCTTATTATCAACAATGGAATCTAGAAGACTGTAGATCTTATATAATACAGAGAAGTGCCTTCAAAATACT... | GGCACAGAAGAGAAATGAAGAAAGAAATTTTAAAATAAATACATAATTTTAAAAGTTCTACTAGTACTGAAGGACATGAGTTTCCTTAATTAAAAGGGCCCACTGAGTGAGCACACAAGTAAAAATGACCCACAGTAAGGCACATCCTTGTGAATTTTTAGAATAATAGAGGCAGACAGGAACCTTAAATTCATTAGAGGACCAAGAAGTTAGGTTTCAAATTGTTTCAAGCCATAATAGTATGAATTCTCTTATTATCAACAATGGAATCTAGAAGACTGTAGATCTTATATAATACAGAGAAGTGCCTTCAAAATACT... | benign | 211,942 |
Benign or pathogenic: chromosome 13, position 32351783, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | benign | AACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGACGACAGAGCAAGACCCCACATCAAAAAAAAAAAAAAAAAAGCAGCAGCAGCAATACTCATGAAGCTGGGCAACTGTCTCCTGCCCGCTCTATGAAAAGAACCAGAGGCTTATTCTCCAGAGAGGATACAGTAGAAGGTGAACACACTAGGCACAGTTGAAGGCAGAAGCAACTACTTGAAAGCAAGAAGAAGTTAATATATGCATATTGAATGTTGGGATCTCCCCTCACCAAGCCCTTTTCCACCACTCAGCTTCCAGAAC... | AACCCAGGAGGTGGAGGCTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGACGACAGAGCAAGACCCCACATCAAAAAAAAAAAAAAAAAAGCAGCAGCAGCAATACTCATGAAGCTGGGCAACTGTCTCCTGCCCGCTCTATGAAAAGAACCAGAGGCTTATTCTCCAGAGAGGATACAGTAGAAGGTGAACACACTAGGCACAGTTGAAGGCAGAAGCAACTACTTGAAAGCAAGAAGAAGTTAATATATGCATATTGAATGTTGGGATCTCCCCTCACCAAGCCCTTTTCCACCACTCAGCTTCCAGAAC... | benign | 211,948 |
Clinical impact (benign or pathogenic) of the variant at chromosome 13, location 32351799, gene BRCA2 (BRCA2 DNA repair associated): what disease(s) if pathogenic? | benign | GCTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGACGACAGAGCAAGACCCCACATCAAAAAAAAAAAAAAAAAAGCAGCAGCAGCAATACTCATGAAGCTGGGCAACTGTCTCCTGCCCGCTCTATGAAAAGAACCAGAGGCTTATTCTCCAGAGAGGATACAGTAGAAGGTGAACACACTAGGCACAGTTGAAGGCAGAAGCAACTACTTGAAAGCAAGAAGAAGTTAATATATGCATATTGAATGTTGGGATCTCCCCTCACCAAGCCCTTTTCCACCACTCAGCTTCCAGAACATAGACAGCTAAGTTT... | GCTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGACGACAGAGCAAGACCCCACATCAAAAAAAAAAAAAAAAAAGCAGCAGCAGCAATACTCATGAAGCTGGGCAACTGTCTCCTGCCCGCTCTATGAAAAGAACCAGAGGCTTATTCTCCAGAGAGGATACAGTAGAAGGTGAACACACTAGGCACAGTTGAAGGCAGAAGCAACTACTTGAAAGCAAGAAGAAGTTAATATATGCATATTGAATGTTGGGATCTCCCCTCACCAAGCCCTTTTCCACCACTCAGCTTCCAGAACATAGACAGCTAAGTTT... | benign | 211,949 |
Gene BRCA2 (BRCA2 DNA repair associated) variant at chromosome 13, position 32352925—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GGGCTTCTGGGTCGTGTGGGGACTTGGAGAACTTTTCTGTCCGGCTAAAGGATTGTAAACACACCAATCAGCGCTCTGTGTCTAGCTAAAGGTTTGTAAACGCACCGGTCAGCACTCTGTGTCTAGCTAAAGGTTTGTAAATGCACCAATCAGCACTCTGTAAAATAGACCAATCAGCAGGACGTGGGCGGGGCCAAATAAGGGAATAAAAGCTGGCCACCTGAGCCAGCCCCAGCAGCCGCTCGGCTCCACTTCCATGCCATGGAATCTTTGTTTTTTCACTCTTTGCAATGAATCTTGCTGCTGCTCACTCTTTAGTG... | GGGCTTCTGGGTCGTGTGGGGACTTGGAGAACTTTTCTGTCCGGCTAAAGGATTGTAAACACACCAATCAGCGCTCTGTGTCTAGCTAAAGGTTTGTAAACGCACCGGTCAGCACTCTGTGTCTAGCTAAAGGTTTGTAAATGCACCAATCAGCACTCTGTAAAATAGACCAATCAGCAGGACGTGGGCGGGGCCAAATAAGGGAATAAAAGCTGGCCACCTGAGCCAGCCCCAGCAGCCGCTCGGCTCCACTTCCATGCCATGGAATCTTTGTTTTTTCACTCTTTGCAATGAATCTTGCTGCTGCTCACTCTTTAGTG... | benign | 211,955 |
Is the genetic mutation found on chromosome 13 at position 32353467, within the gene BRCA2 (BRCA2 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GAACAAACTCGGGACACACTATCTTTAAGAACTGTAACACCATGAGGGTCCACAGCTTCATTCTTGAAGTCAGCAAGACCAAGAACCCACCAGAAGGAACCAATTCCGGACACAGTAGAATTAAATACGTAATTTAGGAAGATGAAAGGCAAGAGTGTGTGTGTAGTAAGGTAGAAGCTGTGTTGACAGAGCTGAATTTTCATTTTCTGTAGGGGTACTTCAAGAGAAAAAGTCAAGAAGAAACATGTCACTTAGACATATAAATATGATAAAATCATCTAAAACTGTTTAAAGTAGTTGCAAAATCTTTTCTAGCTGAT... | GAACAAACTCGGGACACACTATCTTTAAGAACTGTAACACCATGAGGGTCCACAGCTTCATTCTTGAAGTCAGCAAGACCAAGAACCCACCAGAAGGAACCAATTCCGGACACAGTAGAATTAAATACGTAATTTAGGAAGATGAAAGGCAAGAGTGTGTGTGTAGTAAGGTAGAAGCTGTGTTGACAGAGCTGAATTTTCATTTTCTGTAGGGGTACTTCAAGAGAAAAAGTCAAGAAGAAACATGTCACTTAGACATATAAATATGATAAAATCATCTAAAACTGTTTAAAGTAGTTGCAAAATCTTTTCTAGCTGAT... | benign | 211,956 |
Regarding the variant found on chromosome 13 at position 32353473 in gene BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | ACTCGGGACACACTATCTTTAAGAACTGTAACACCATGAGGGTCCACAGCTTCATTCTTGAAGTCAGCAAGACCAAGAACCCACCAGAAGGAACCAATTCCGGACACAGTAGAATTAAATACGTAATTTAGGAAGATGAAAGGCAAGAGTGTGTGTGTAGTAAGGTAGAAGCTGTGTTGACAGAGCTGAATTTTCATTTTCTGTAGGGGTACTTCAAGAGAAAAAGTCAAGAAGAAACATGTCACTTAGACATATAAATATGATAAAATCATCTAAAACTGTTTAAAGTAGTTGCAAAATCTTTTCTAGCTGATAAATTT... | ACTCGGGACACACTATCTTTAAGAACTGTAACACCATGAGGGTCCACAGCTTCATTCTTGAAGTCAGCAAGACCAAGAACCCACCAGAAGGAACCAATTCCGGACACAGTAGAATTAAATACGTAATTTAGGAAGATGAAAGGCAAGAGTGTGTGTGTAGTAAGGTAGAAGCTGTGTTGACAGAGCTGAATTTTCATTTTCTGTAGGGGTACTTCAAGAGAAAAAGTCAAGAAGAAACATGTCACTTAGACATATAAATATGATAAAATCATCTAAAACTGTTTAAAGTAGTTGCAAAATCTTTTCTAGCTGATAAATTT... | benign | 211,958 |
Chromosome 13, position 32353474, gene BRCA2 (BRCA2 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CTCGGGACACACTATCTTTAAGAACTGTAACACCATGAGGGTCCACAGCTTCATTCTTGAAGTCAGCAAGACCAAGAACCCACCAGAAGGAACCAATTCCGGACACAGTAGAATTAAATACGTAATTTAGGAAGATGAAAGGCAAGAGTGTGTGTGTAGTAAGGTAGAAGCTGTGTTGACAGAGCTGAATTTTCATTTTCTGTAGGGGTACTTCAAGAGAAAAAGTCAAGAAGAAACATGTCACTTAGACATATAAATATGATAAAATCATCTAAAACTGTTTAAAGTAGTTGCAAAATCTTTTCTAGCTGATAAATTTT... | CTCGGGACACACTATCTTTAAGAACTGTAACACCATGAGGGTCCACAGCTTCATTCTTGAAGTCAGCAAGACCAAGAACCCACCAGAAGGAACCAATTCCGGACACAGTAGAATTAAATACGTAATTTAGGAAGATGAAAGGCAAGAGTGTGTGTGTAGTAAGGTAGAAGCTGTGTTGACAGAGCTGAATTTTCATTTTCTGTAGGGGTACTTCAAGAGAAAAAGTCAAGAAGAAACATGTCACTTAGACATATAAATATGATAAAATCATCTAAAACTGTTTAAAGTAGTTGCAAAATCTTTTCTAGCTGATAAATTTT... | benign | 211,959 |
Is the variant located on chromosome 13 at position 32354836, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GTTGCAAGGAGATTAGTAAATACAGGTCTTAACCTAGCAGAGGAGGTAGAGGGTAGAGAATGATTGAGATAGAAATTCAGTAGATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTG... | GTTGCAAGGAGATTAGTAAATACAGGTCTTAACCTAGCAGAGGAGGTAGAGGGTAGAGAATGATTGAGATAGAAATTCAGTAGATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTG... | benign | 211,969 |
Is chromosome 13, position 32354843, gene BRCA2 (BRCA2 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | GGAGATTAGTAAATACAGGTCTTAACCTAGCAGAGGAGGTAGAGGGTAGAGAATGATTGAGATAGAAATTCAGTAGATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCT... | GGAGATTAGTAAATACAGGTCTTAACCTAGCAGAGGAGGTAGAGGGTAGAGAATGATTGAGATAGAAATTCAGTAGATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCT... | benign | 211,971 |
Regarding the variant at chromosome 13 and position 32354869, affecting gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTAGCAGAGGAGGTAGAGGGTAGAGAATGATTGAGATAGAAATTCAGTAGATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGA... | CTAGCAGAGGAGGTAGAGGGTAGAGAATGATTGAGATAGAAATTCAGTAGATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGA... | pathogenic | 211,980 |
Variant in BRCA2 (BRCA2 DNA repair associated), chromosome 13, position 32354876—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | AGGAGGTAGAGGGTAGAGAATGATTGAGATAGAAATTCAGTAGATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCT... | AGGAGGTAGAGGGTAGAGAATGATTGAGATAGAAATTCAGTAGATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCT... | pathogenic | 211,982 |
A genetic variant on chromosome 13, position 32354877, 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_cancer-predisposing_syndrome'] | GGAGGTAGAGGGTAGAGAATGATTGAGATAGAAATTCAGTAGATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTC... | GGAGGTAGAGGGTAGAGAATGATTGAGATAGAAATTCAGTAGATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTC... | pathogenic | 211,984 |
Classify the chromosome 13 variant at position 32354877 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'] | GGAGGTAGAGGGTAGAGAATGATTGAGATAGAAATTCAGTAGATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTC... | GGAGGTAGAGGGTAGAGAATGATTGAGATAGAAATTCAGTAGATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTC... | pathogenic | 211,985 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32354877 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'] | GGAGGTAGAGGGTAGAGAATGATTGAGATAGAAATTCAGTAGATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTC... | GGAGGTAGAGGGTAGAGAATGATTGAGATAGAAATTCAGTAGATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTC... | pathogenic | 211,986 |
The mutation in gene BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32354882—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TAGAGGGTAGAGAATGATTGAGATAGAAATTCAGTAGATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCAC... | TAGAGGGTAGAGAATGATTGAGATAGAAATTCAGTAGATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCAC... | pathogenic | 211,988 |
The chromosome 13, position 32354884 genetic variant in gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome'] | GAGGGTAGAGAATGATTGAGATAGAAATTCAGTAGATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCC... | GAGGGTAGAGAATGATTGAGATAGAAATTCAGTAGATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCC... | pathogenic | 211,989 |
Classify the chromosome 13 variant at position 32354888 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'] | GTAGAGAATGATTGAGATAGAAATTCAGTAGATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAG... | GTAGAGAATGATTGAGATAGAAATTCAGTAGATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAG... | pathogenic | 211,991 |
Does the variant on chromosome 13 at location 32354896 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'] | TGATTGAGATAGAAATTCAGTAGATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTT... | TGATTGAGATAGAAATTCAGTAGATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTT... | pathogenic | 211,992 |
Gene mutation in BRCA2 (BRCA2 DNA repair associated) at chromosome 13, position 32354918—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | GATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAG... | GATTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAG... | pathogenic | 212,002 |
Is the genetic variant on chromosome 13, position 32354920, gene BRCA2 (BRCA2 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['BRCA2-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_D1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer... | TTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAA... | TTTGGCCAGATAGTGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAA... | pathogenic | 212,003 |
A genetic variant on chromosome 13, position 32354933, affects the gene BRCA2 (BRCA2 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast'] | TGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAA... | TGATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAA... | pathogenic | 212,009 |
Is the genetic mutation found on chromosome 13 at position 32354934, 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'] | GATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAG... | GATAAGTTGAGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAG... | pathogenic | 212,010 |
Classify the chromosome 13 variant at position 32354943 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'] | AGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAA... | AGACTGGCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAA... | pathogenic | 212,014 |
Is the genetic change at chromosome 13, position 32354949, within gene BRCA2 (BRCA2 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCC... | GCAAATTATTTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCC... | pathogenic | 212,015 |
The mutation impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13 at position 32354958: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTC... | TTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTC... | pathogenic | 212,018 |
Considering the variant on chromosome 13, location 32354958, involving gene BRCA2 (BRCA2 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTC... | TTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTC... | pathogenic | 212,019 |
Assess the variant on chromosome 13, position 32354958, impacting BRCA2 (BRCA2 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTC... | TTCCACTTAGATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTC... | pathogenic | 212,020 |
Located at chromosome 13 position 32354968, 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', 'Hereditary_cancer-predisposing_syndrome'] | ATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCC... | ATTTAAATAGATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCC... | pathogenic | 212,025 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32354978, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTA... | ATATCTTGAGCATAACCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTA... | pathogenic | 212,028 |
Benign or pathogenic: chromosome 13, position 32354993, gene BRCA2 (BRCA2 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTC... | CCTACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTC... | pathogenic | 212,034 |
A genetic variant on chromosome 13, position 32354996, 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'] | ACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTT... | ACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTT... | pathogenic | 212,035 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 13, position 32354996, gene BRCA2 (BRCA2 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTT... | ACAAGGCAAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTT... | pathogenic | 212,036 |
Classify the chromosome 13 variant at position 32355003 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'] | AAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTA... | AAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTA... | pathogenic | 212,038 |
Does the variant impacting BRCA2 (BRCA2 DNA repair associated) on chromosome 13, position 32355003, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTA... | AAACTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTA... | pathogenic | 212,039 |
Evaluate the clinical significance of the mutation at chromosome 13, position 32355006 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'] | CTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCT... | CTCCTTATACTAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCT... | pathogenic | 212,041 |
Evaluate this variant at chromosome 13, position 32355016, gene BRCA2 (BRCA2 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_2'] | TAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTAC... | TAAAAATATTCTGAATATTTAAAAAGAAAGGATTAAAAGATCAATCAATAGAAGTTTGGGGACAGAAGGTTTATTCATTCTTGTGCATTAGATCTCATCTAGATCACCTGTTTGAAGAAATCATTCCAGCAATTATCTTGTCTCTCTCCTGCATGGATTTTTTTCCTAATAGATTGTTCTCATCACCCTAAGCAGTTGTTGTACATCTCTCATCTTAAAAAGAACAGCCTTTCTTAAGTAATCTCAACAGTCCATTTTCTTCTCTTAAAGCCCAACTCATTAGAATTGTCCCTCCTCTTTTCACTTATCTCTTTGAGTAC... | pathogenic | 212,042 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.