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 |
|---|---|---|---|---|---|
Variant chromosome 17, position 43045790, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACACCTTTAT... | ATGGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACACCTTTAT... | pathogenic | 271,904 |
Clinical classification of chromosome 17, position 43045792, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_neoplasm', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_4'] | GGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACACCTTTATTT... | GGGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACACCTTTATTT... | pathogenic | 271,906 |
Is the variant located on chromosome 17 at position 43045793, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACACCTTTATTTT... | GGCCTTAAGATATGAAGATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACACCTTTATTTT... | pathogenic | 271,907 |
Considering the variant on chromosome 17, location 43045810, involving gene BRCA1 (BRCA1 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | ATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACACCTTTATTTTGGCCTCATGAAACCTGA... | ATCACTTTGGATTACCAAGTGGGTGCAATCTAATCACTTGAGCCCTTAGAAACAGAGAAATGTCTCTGGCAGGAGTTAGAAAGATACAGTAGTCAGCAAGATTCAGTGTGAGAAAAACTTGACCACCCATTGCTGGTTTTGAAGATGGAGGCAGACAGGCCAGGAGCCTAGGAATGTGGGGAGCCTCAAGAAGCTGAGAATGATGCCCAGCCAACAGCCAGTGGGAAACAGGGATCTTAGTCCTAGAACTGCAAGGACCCAGAGCCTCTAGAAGGGAACACGCCCTGCGAACACCTTTATTTTGGCCTCATGAAACCTGA... | benign | 271,918 |
The mutation impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17 at position 43046757: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GGTTCTTGAAAATCTTCTGCTGTTTTAGAACACATTCTTTAGAAATCTAGCAAATATATCTCAGACTTTTAGAAATCTCTTCTAGTTTCATTTTCCTTTTTTTTTTTTTTTTTTTGAGCCACAGTCTCACTGTCACCCAGGCTGGAGTGCCGTGGTATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGCTGAAGTGATTCTCCTGCCTTAGCCACCTGAGTAGCTGGGATTACAGGTGTCCACCACCATGACCGGCTAATTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACT... | GGTTCTTGAAAATCTTCTGCTGTTTTAGAACACATTCTTTAGAAATCTAGCAAATATATCTCAGACTTTTAGAAATCTCTTCTAGTTTCATTTTCCTTTTTTTTTTTTTTTTTTTGAGCCACAGTCTCACTGTCACCCAGGCTGGAGTGCCGTGGTATGATCTTGGCTCACTGCAACCTCCACCTCCCGGGCTGAAGTGATTCTCCTGCCTTAGCCACCTGAGTAGCTGGGATTACAGGTGTCCACCACCATGACCGGCTAATTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACT... | benign | 271,925 |
A genetic variant at chromosome 17, position 43047626, affecting gene BRCA1 (BRCA1 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | AGAAGGACTGAAGAGTGAGAGGAGCTCCCAGGGCCTGGAAAGGCCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTC... | AGAAGGACTGAAGAGTGAGAGGAGCTCCCAGGGCCTGGAAAGGCCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTC... | pathogenic | 271,931 |
Considering the variant on chromosome 17, location 43047643, involving gene BRCA1 (BRCA1 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGAGGAGCTCCCAGGGCCTGGAAAGGCCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTA... | AGAGGAGCTCCCAGGGCCTGGAAAGGCCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTA... | pathogenic | 271,938 |
Is the chromosome 17, position 43047645 variant in BRCA1 (BRCA1 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGGAGCTCCCAGGGCCTGGAAAGGCCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGA... | AGGAGCTCCCAGGGCCTGGAAAGGCCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGA... | pathogenic | 271,941 |
Mutation found at chromosome 17 position 43047646, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_neoplasm', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGAGCTCCCAGGGCCTGGAAAGGCCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAA... | GGAGCTCCCAGGGCCTGGAAAGGCCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAA... | pathogenic | 271,942 |
The chromosome 17, position 43047658 genetic variant in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCCTGGAAAGGCCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTT... | GCCTGGAAAGGCCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTT... | pathogenic | 271,945 |
Is chromosome 17, position 43047669, gene BRCA1 (BRCA1 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTT... | CCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTT... | pathogenic | 271,951 |
A genetic alteration at chromosome 17, position 43047669, in gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTT... | CCACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTT... | pathogenic | 271,952 |
Mutation found at chromosome 17 position 43047670, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTG... | CACTTTGTAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTG... | pathogenic | 271,953 |
Chromosome 17, position 43047677, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGA... | TAAGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGA... | pathogenic | 271,956 |
A genetic alteration at chromosome 17, position 43047679, in gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGT... | AGCTCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGT... | pathogenic | 271,959 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43047682, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTT... | TCATTCTTGGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTT... | pathogenic | 271,961 |
Classify the chromosome 17 variant at position 43047690 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTC... | GGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTC... | pathogenic | 271,962 |
For chromosome 17, position 43047690, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTC... | GGGGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTC... | pathogenic | 271,963 |
Regarding the variant found on chromosome 17 at position 43047692 in gene BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGC... | GGTCCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGC... | pathogenic | 271,965 |
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43047695—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCGA... | CCTGTGGCTCTGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCGA... | pathogenic | 271,967 |
Evaluate if the mutation on chromosome 17 at position 43047705 in BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCGAGGCTAGAGTG... | TGTACCTGTGGCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCGAGGCTAGAGTG... | benign | 271,975 |
Mutation found at chromosome 17 position 43047715, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | GCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCGAGGCTAGAGTGTGATGGCGCA... | GCTGGCTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAATTGCTGGAGACAGAGAACACAAGCAGAGATTAGTGTCAATTCATTCTCCTGGACTAGGCTCTAATCAATCGACTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAATGAGGTAGAAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCGAGGCTAGAGTGTGATGGCGCA... | benign | 271,977 |
The mutation in gene BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43048506—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TGTGATCTCAGCTCACTGCAACCTCAACATCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGCGTGCCACCATGCCTGGCTAATTTTTTTTAGTATTTTTAGTAGAGATGGGGTTTCGCCATATTGGCCAGGCTGGTCTCAAACTCCTGATGTCAGGTGATCCGCCCTGAGGCTGAGGCAGGAGAATCATTTAAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGACTGGGCCACTGCACTCCAGCCTGCTAAGTGACAGAGTGAGACTCCACCTCAAAAAAAAAAAAAAAAGGCA... | TGTGATCTCAGCTCACTGCAACCTCAACATCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGCGTGCCACCATGCCTGGCTAATTTTTTTTAGTATTTTTAGTAGAGATGGGGTTTCGCCATATTGGCCAGGCTGGTCTCAAACTCCTGATGTCAGGTGATCCGCCCTGAGGCTGAGGCAGGAGAATCATTTAAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGACTGGGCCACTGCACTCCAGCCTGCTAAGTGACAGAGTGAGACTCCACCTCAAAAAAAAAAAAAAAAGGCA... | benign | 271,982 |
Clinically, how would you classify the variant at chromosome 17, position 43048519, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | CACTGCAACCTCAACATCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGCGTGCCACCATGCCTGGCTAATTTTTTTTAGTATTTTTAGTAGAGATGGGGTTTCGCCATATTGGCCAGGCTGGTCTCAAACTCCTGATGTCAGGTGATCCGCCCTGAGGCTGAGGCAGGAGAATCATTTAAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGACTGGGCCACTGCACTCCAGCCTGCTAAGTGACAGAGTGAGACTCCACCTCAAAAAAAAAAAAAAAAGGCAATGCTTCAGGACA... | CACTGCAACCTCAACATCCTGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGCGTGCCACCATGCCTGGCTAATTTTTTTTAGTATTTTTAGTAGAGATGGGGTTTCGCCATATTGGCCAGGCTGGTCTCAAACTCCTGATGTCAGGTGATCCGCCCTGAGGCTGAGGCAGGAGAATCATTTAAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGACTGGGCCACTGCACTCCAGCCTGCTAAGTGACAGAGTGAGACTCCACCTCAAAAAAAAAAAAAAAAGGCAATGCTTCAGGACA... | benign | 271,983 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43049113: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | ACTGGGATTATTTTATTGTTTTTGTGTAAATTTATACTTTCTTTTTTCTTTTTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGA... | ACTGGGATTATTTTATTGTTTTTGTGTAAATTTATACTTTCTTTTTTCTTTTTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGA... | pathogenic | 271,995 |
Is chromosome 17, position 43049117, gene BRCA1 (BRCA1 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGATTATTTTATTGTTTTTGTGTAAATTTATACTTTCTTTTTTCTTTTTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCA... | GGATTATTTTATTGTTTTTGTGTAAATTTATACTTTCTTTTTTCTTTTTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCA... | pathogenic | 272,001 |
Determine whether the variant at chromosome 17, position 43049128, in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['BRCA1-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTGTTTTTGTGTAAATTTATACTTTCTTTTTTCTTTTTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGC... | TTGTTTTTGTGTAAATTTATACTTTCTTTTTTCTTTTTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGC... | pathogenic | 272,006 |
Mutation at chromosome 17, position 43049129, within BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TGTTTTTGTGTAAATTTATACTTTCTTTTTTCTTTTTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCC... | TGTTTTTGTGTAAATTTATACTTTCTTTTTTCTTTTTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCC... | pathogenic | 272,007 |
The chromosome 17, position 43049135 genetic variant in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TGTGTAAATTTATACTTTCTTTTTTCTTTTTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATT... | TGTGTAAATTTATACTTTCTTTTTTCTTTTTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATT... | pathogenic | 272,010 |
Benign or pathogenic: chromosome 17, position 43049137, gene BRCA1 (BRCA1 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TGTAAATTTATACTTTCTTTTTTCTTTTTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTA... | TGTAAATTTATACTTTCTTTTTTCTTTTTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTA... | pathogenic | 272,013 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43049140 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | AAATTTATACTTTCTTTTTTCTTTTTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGT... | AAATTTATACTTTCTTTTTTCTTTTTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGT... | pathogenic | 272,015 |
Variant at chromosome position 43049140, chromosome 17, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAATTTATACTTTCTTTTTTCTTTTTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGT... | AAATTTATACTTTCTTTTTTCTTTTTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGT... | pathogenic | 272,017 |
Chromosome 17, position 43049141, gene BRCA1 (BRCA1 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | AATTTATACTTTCTTTTTTCTTTTTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTT... | AATTTATACTTTCTTTTTTCTTTTTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTT... | pathogenic | 272,018 |
Variant on chromosome 17, at position 43049158, affecting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_4'] | TTCTTTTTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCA... | TTCTTTTTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCA... | pathogenic | 272,024 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 43049160, gene BRCA1 (BRCA1 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTTTTTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATA... | CTTTTTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATA... | pathogenic | 272,025 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43049164 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTT... | TTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTT... | pathogenic | 272,027 |
Does the genetic variant at chromosome 17, position 43049164, impacting gene BRCA1 (BRCA1 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTT... | TTGAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTT... | pathogenic | 272,028 |
The mutation impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17 at position 43049166: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | GAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTTAC... | GAGACACGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTTAC... | pathogenic | 272,030 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 43049172, gene BRCA1 (BRCA1 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | CGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTTACTCCCAC... | CGGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTTACTCCCAC... | pathogenic | 272,032 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 43049174, gene BRCA1 (BRCA1 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTTACTCCCACCC... | GTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTTACTCCCACCC... | pathogenic | 272,034 |
Does the variant impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17, position 43049176, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTTACTCCCACCCCA... | CTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTTACTCCCACCCCA... | pathogenic | 272,036 |
Regarding the variant found on chromosome 17 at position 43049178 in gene BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTTACTCCCACCCCATG... | CGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTTACTCCCACCCCATG... | pathogenic | 272,037 |
A genetic variant on chromosome 17, position 43049184, affects the gene BRCA1 (BRCA1 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTTACTCCCACCCCATGGAAACA... | GTCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTTACTCCCACCCCATGGAAACA... | pathogenic | 272,040 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43049185, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTTACTCCCACCCCATGGAAACAG... | TCGCCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTTACTCCCACCCCATGGAAACAG... | pathogenic | 272,041 |
Mutation found at chromosome 17 position 43049188, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | CCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTTACTCCCACCCCATGGAAACAGTTC... | CCCAGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTTACTCCCACCCCATGGAAACAGTTC... | pathogenic | 272,046 |
Regarding the variant at chromosome 17 and position 43049191, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | AGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTTACTCCCACCCCATGGAAACAGTTCATG... | AGGCTGGAGTACAGTGGTGTGATCGTGGCTCACTGAAGCATCAACCTCCTGAGCTCAAGTGATCCTCCCACCTCAGCTTCCCAAGTAGCTGCGACTACAGGCATCTGCCACCACACCCAGCTACTTTTTAAATTTGTTGTACAGATGAAGTCTCCTTATGTTGCCCAGGCTGGTCTCGAACTTCTAGGCTCCCACCTTGACCTCCATCTTGACCTCCCAAAGTGCTGGAATTATAGGCATGAGCCACCATGCCCGGCCTTGATTTATGTTTTTGTGATGAACATTCATATCTTACTCCCACCCCATGGAAACAGTTCATG... | pathogenic | 272,048 |
Assess the variant on chromosome 17, position 43050608, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCCACGTTCAAGCGATGCTCACACCTCAACTTCCCAAATAGCTGGCATTACAGGCATGCTCCACCAGGCCTGGCTACTTTTTGTTTTTTTTTTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCATGCCCAGCCTCCAGCCCATCATTTCTTGATGATTTGTTGAAACACAGTATGCTGGGGCAGTCACAGAGAGG... | TCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCCACGTTCAAGCGATGCTCACACCTCAACTTCCCAAATAGCTGGCATTACAGGCATGCTCCACCAGGCCTGGCTACTTTTTGTTTTTTTTTTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCATGCCCAGCCTCCAGCCCATCATTTCTTGATGATTTGTTGAAACACAGTATGCTGGGGCAGTCACAGAGAGG... | benign | 272,067 |
Is the genetic mutation found on chromosome 17 at position 43050880, within the gene BRCA1 (BRCA1 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TCTTGATGATTTGTTGAAACACAGTATGCTGGGGCAGTCACAGAGAGGAGGGGGAGGGACATATGGGAAAAAGAGTTAGAGGGAAAAAGTCTTCCCTCAGTATATTTAATATGTGCAGTTCTCAAATCCTTACCCATCCCTTACAGATGGAGTCTTTTGGCACAGGTATGTGGGCAGAGAAGACTTCTGAGGCTACAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTC... | TCTTGATGATTTGTTGAAACACAGTATGCTGGGGCAGTCACAGAGAGGAGGGGGAGGGACATATGGGAAAAAGAGTTAGAGGGAAAAAGTCTTCCCTCAGTATATTTAATATGTGCAGTTCTCAAATCCTTACCCATCCCTTACAGATGGAGTCTTTTGGCACAGGTATGTGGGCAGAGAAGACTTCTGAGGCTACAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTC... | benign | 272,070 |
A genetic variant at chromosome 17, position 43051062, affecting gene BRCA1 (BRCA1 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ACTTCTGAGGCTACAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAAT... | ACTTCTGAGGCTACAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAAT... | pathogenic | 272,085 |
Mutation at chromosome 17, position 43051066, within BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTGAGGCTACAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTC... | CTGAGGCTACAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTC... | pathogenic | 272,088 |
Is the genetic change at chromosome 17, position 43051066, within gene BRCA1 (BRCA1 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTGAGGCTACAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTC... | CTGAGGCTACAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTC... | pathogenic | 272,089 |
A genetic variant at chromosome 17, position 43051070, affecting gene BRCA1 (BRCA1 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | GGCTACAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAA... | GGCTACAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAA... | pathogenic | 272,091 |
Is the chromosome 17, position 43051073 variant in BRCA1 (BRCA1 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TACAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAAT... | TACAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAAT... | pathogenic | 272,095 |
Evaluate if the mutation on chromosome 17 at position 43051075 in BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['BRCA1-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAG... | CAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAG... | pathogenic | 272,096 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43051079: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGG... | AGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGG... | pathogenic | 272,098 |
Variant chromosome 17, position 43051083, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTA... | GCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTA... | pathogenic | 272,100 |
Classify the chromosome 17 variant at position 43051084 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTAT... | CATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTAT... | pathogenic | 272,101 |
Variant on chromosome 17, at position 43051084, affecting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | CATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTAT... | CATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTAT... | pathogenic | 272,102 |
Does the variant on chromosome 17 at location 43051090 affecting gene BRCA1 (BRCA1 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,_1'] | TAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTT... | TAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTT... | pathogenic | 272,108 |
Clinically, how would you classify the variant at chromosome 17, position 43051092, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTA... | GGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTA... | pathogenic | 272,110 |
Determine if the mutation at chromosome 17, position 43051093 in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAA... | GGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAA... | pathogenic | 272,111 |
The mutation in gene BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43051095—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGT... | ACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGT... | pathogenic | 272,113 |
Variant at chromosome 17, position 43051104, gene BRCA1 (BRCA1 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAATTTGCC... | TGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAATTTGCC... | pathogenic | 272,117 |
The mutation impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17 at position 43051105: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAATTTGCCA... | GCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAATTTGCCA... | pathogenic | 272,118 |
Does the variant on chromosome 17 at location 43051105 affecting gene BRCA1 (BRCA1 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,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAATTTGCCA... | GCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAATTTGCCA... | pathogenic | 272,119 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43051110 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAATTTGCCACTGAT... | TCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAATTTGCCACTGAT... | pathogenic | 272,122 |
Classify the chromosome 17 variant at position 43051112 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAATTTGCCACTGATAT... | TTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAATTTGCCACTGATAT... | pathogenic | 272,123 |
Clinical significance of chromosome 17, position 43051118, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | ACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAATTTGCCACTGATATGCCATG... | ACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAATTTGCCACTGATATGCCATG... | pathogenic | 272,129 |
Variant at chromosome position 43051120, chromosome 17, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAATTTGCCACTGATATGCCATGTA... | AGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAATTTGCCACTGATATGCCATGTA... | benign | 272,133 |
Variant at chromosome position 43051663, chromosome 17, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TTGGTGGTAATTACTGTAAATGTCAAGAGATGGGAAGATAATTCATCCAGTCAAAAAAATACATGTTATCCTGGTTAGAGACTCAGCAGGGAAAGGCTACATGCTGAGCTGGAATCCATATACTCAGGGGAATAAAAATCAGAAGAGACTGTGGAGATGCTGTGTACCTGGAAAATCAGAACTGCCCAATGGGCTCTGTTGGCTGTGTTCTTCAAGACATTCATGTATGTTGCTCTTTCCCATCAGCCCGTTTCTGGGAATTGCTGAGGTGCTCCTGTCTGTCTGACTGAACGAAGGTTGACTAACTCACCCCCAAAATA... | TTGGTGGTAATTACTGTAAATGTCAAGAGATGGGAAGATAATTCATCCAGTCAAAAAAATACATGTTATCCTGGTTAGAGACTCAGCAGGGAAAGGCTACATGCTGAGCTGGAATCCATATACTCAGGGGAATAAAAATCAGAAGAGACTGTGGAGATGCTGTGTACCTGGAAAATCAGAACTGCCCAATGGGCTCTGTTGGCTGTGTTCTTCAAGACATTCATGTATGTTGCTCTTTCCCATCAGCCCGTTTCTGGGAATTGCTGAGGTGCTCCTGTCTGTCTGACTGAACGAAGGTTGACTAACTCACCCCCAAAATA... | benign | 272,144 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43053353, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic? | benign | TACTGGATTTCAGAAGATCTTCTTGAAGTGCATATGTAGTTGACCTGCACTCTACAGGCATTCTTTGTCATTCAAGGACTGAGCATCTCACTTTTGTCACCAATCAGGCCAAGGCTCCTCCCTAATGATCTCTGCAGGTGCTTTAACTTGTTAGATGCAAGGGAAAAAAGGTCCTTCTGTATGTTTAATAAGAGGCTTGGATGGCTAGAAACTCAAAGTTATTGGCTGAAGTTTGATGTTTATCCAGACTTGGTACCTCAAGTACTCACTATGACCCCATCAACAGAGGGGTCTATGTTGATTTTAGGTGTACATGCTCC... | TACTGGATTTCAGAAGATCTTCTTGAAGTGCATATGTAGTTGACCTGCACTCTACAGGCATTCTTTGTCATTCAAGGACTGAGCATCTCACTTTTGTCACCAATCAGGCCAAGGCTCCTCCCTAATGATCTCTGCAGGTGCTTTAACTTGTTAGATGCAAGGGAAAAAAGGTCCTTCTGTATGTTTAATAAGAGGCTTGGATGGCTAGAAACTCAAAGTTATTGGCTGAAGTTTGATGTTTATCCAGACTTGGTACCTCAAGTACTCACTATGACCCCATCAACAGAGGGGTCTATGTTGATTTTAGGTGTACATGCTCC... | benign | 272,158 |
Chromosome 17, position 43054744, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | AGAGAAAAAAATCAGGAAGCTAAAAATACACGGATGGCCTTTTAGAAAGTGGTCACCCTCCCCCTTGACAGACAGACGGACAGAAACACACACACACACACACACACACACACACACACACACACACACTCTCTTACTTTACCGCCAGAGTGAAAAGAAATGGCAGTAGGACAAGTCTGTGTGTTTTTTTTTTTTTTTTGAGACGCAGTCTTGCACTGTCGCCTGGGCTGGAGTGCAATGGTGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATT... | AGAGAAAAAAATCAGGAAGCTAAAAATACACGGATGGCCTTTTAGAAAGTGGTCACCCTCCCCCTTGACAGACAGACGGACAGAAACACACACACACACACACACACACACACACACACACACACACACTCTCTTACTTTACCGCCAGAGTGAAAAGAAATGGCAGTAGGACAAGTCTGTGTGTTTTTTTTTTTTTTTTGAGACGCAGTCTTGCACTGTCGCCTGGGCTGGAGTGCAATGGTGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATT... | benign | 272,167 |
Chromosome 17, position 43056686, gene BRCA1 (BRCA1 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGAAGTGAGCCGCTGTGCCCAGCTGGGATTTTTTTTTTTTTTTTGAGATGAAGTCTCCCTCTTGTCCCCAGGCTAGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAACCGATTCTCTAGCCTCAGCCTCCCGAGTAATCCTGAGCTAGGATTACAGGTGCCTACCACCACGCCCAGTTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGC... | ACTATGTTGCCCAGGCTAGTCTTGAACTCCTGGGCTCAAGTGATCCTCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGAAGTGAGCCGCTGTGCCCAGCTGGGATTTTTTTTTTTTTTTTGAGATGAAGTCTCCCTCTTGTCCCCAGGCTAGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAACCGATTCTCTAGCCTCAGCCTCCCGAGTAATCCTGAGCTAGGATTACAGGTGCCTACCACCACGCCCAGTTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGC... | benign | 272,176 |
A genetic variant at chromosome 17, position 43056992, affecting gene BRCA1 (BRCA1 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGGCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCT... | TTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGGCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCT... | benign | 272,180 |
Assess the variant on chromosome 17, position 43057045, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCCTTGGGCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCA... | GCCTTGGGCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCA... | pathogenic | 272,184 |
Variant on chromosome 17, at position 43057050, affecting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGGCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAAC... | GGGCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAAC... | pathogenic | 272,187 |
Considering the genetic mutation at chromosome 17, position 43057052, impacting BRCA1 (BRCA1 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTT... | GCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTT... | pathogenic | 272,190 |
The mutation impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17 at position 43057052: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | GCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTT... | GCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTT... | pathogenic | 272,191 |
Does the variant impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17, position 43057054, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTT... | TCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTT... | pathogenic | 272,192 |
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43057055—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | CCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTC... | CCCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTC... | pathogenic | 272,194 |
Does the chromosome 17 mutation at position 43057056 within gene BRCA1 (BRCA1 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | CCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCA... | CCAAAGTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCA... | pathogenic | 272,195 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43057059: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AAGTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGA... | AAGTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGA... | pathogenic | 272,196 |
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43057060—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAA... | AGTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAA... | pathogenic | 272,197 |
Is the genetic variant on chromosome 17, position 43057061, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAA... | GTGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAA... | pathogenic | 272,198 |
Assess the variant on chromosome 17, position 43057062, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['BRCA1-related_cancer_predisposition', 'BRCA1-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Breast_neoplasm', 'Endometrial_carcinoma', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syn... | TGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAAC... | TGCTGGGATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAAC... | pathogenic | 272,200 |
A mutation at chromosome position 43057069 on chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTA... | ATCACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTA... | pathogenic | 272,203 |
Is the chromosome 17, position 43057071 variant in BRCA1 (BRCA1 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATT... | CACAGGTGTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATT... | pathogenic | 272,205 |
Does the variant on chromosome 17 at location 43057078 affecting gene BRCA1 (BRCA1 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTA... | GTGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTA... | pathogenic | 272,214 |
Regarding the variant at chromosome 17 and position 43057079, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAA... | TGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAA... | pathogenic | 272,215 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43057079: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAA... | TGAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAA... | pathogenic | 272,216 |
Evaluate this variant at chromosome 17, position 43057080, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAG... | GAGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAG... | pathogenic | 272,217 |
Does the variant on chromosome 17 at location 43057081 affecting gene BRCA1 (BRCA1 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,_1'] | AGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGA... | AGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGA... | pathogenic | 272,218 |
A genetic alteration at chromosome 17, position 43057081, in gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | AGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGA... | AGCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGA... | pathogenic | 272,219 |
Clinically, how would you classify the variant at chromosome 17, position 43057082, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAG... | GCCACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAG... | pathogenic | 272,220 |
Determine if the mutation at chromosome 17, position 43057085 in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGTTT... | ACCGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGTTT... | pathogenic | 272,221 |
Regarding the variant at chromosome 17 and position 43057087, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_carcinoma', 'Hereditary_breast_ovarian_cancer_syndrome'] | CGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGTTTAG... | CGCGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGTTTAG... | pathogenic | 272,225 |
Clinical classification of chromosome 17, position 43057089, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGTTTAGAA... | CGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGTTTAGAA... | pathogenic | 272,226 |
Located at chromosome 17 position 43057089, the variant affecting gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGTTTAGAA... | CGACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGTTTAGAA... | pathogenic | 272,227 |
Does the genetic variant at chromosome 17, position 43057091, impacting gene BRCA1 (BRCA1 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGTTTAGAATT... | ACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGTTTAGAATT... | pathogenic | 272,229 |
Assess the variant on chromosome 17, position 43057091, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | ACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGTTTAGAATT... | ACCAGCCTGGGATGTTCTGAAATGCCTGGTAGTGCACACTTGAAAAAGGAAGAAAAGCAGACTGGGAACATAGCACTTAGGGAGCTGAGAAAGCAGCCAGCTCAGGCCTGACAGGTAAGTGTGAAATCTTGCAGACTTTCTCCCTGTGAGGAAGTCAGAGTTCTGGCTAAGTCATCTGCTACAATATGATCAGGAGAAAGTCATTGAGTCTTCTTGGGTCTCATCTGCAAAGTTGTTAGAATGCTCCATTTTTTTTCCCTCCGTGAAGCCTTCAACAACTTTTCAAGAAACTATAGTATTGTTGTTAAGAGTTTAGAATT... | pathogenic | 272,230 |
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