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 |
|---|---|---|---|---|---|
Considering the variant on chromosome 17, location 43067662, 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', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGATCGTGCCATTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGT... | AGATCGTGCCATTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGT... | pathogenic | 272,563 |
The chromosome 17, position 43067668 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'] | TGCCATTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCA... | TGCCATTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCA... | pathogenic | 272,564 |
The mutation impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17 at position 43067673: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTA... | TTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTA... | pathogenic | 272,566 |
Is the genetic change at chromosome 17, position 43067674, within gene BRCA1 (BRCA1 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTAC... | TGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTAC... | pathogenic | 272,568 |
Does the variant on chromosome 17 at location 43067676 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'] | CACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTT... | CACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTT... | pathogenic | 272,570 |
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43067684—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTAT... | CAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTAT... | pathogenic | 272,574 |
Chromosome 17, position 43067684, 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', 'Hereditary_breast_ovarian_cancer_syndrome'] | CAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTAT... | CAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTAT... | pathogenic | 272,575 |
Does the variant impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17, position 43067694, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTATCTTTACCATC... | AACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTATCTTTACCATC... | pathogenic | 272,582 |
Considering the genetic mutation at chromosome 17, position 43070929, 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'] | TCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCA... | TCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCA... | pathogenic | 272,619 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43070931: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['BRCA1-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast', 'Ovarian_neoplasm'] | TAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAAT... | TAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAAT... | pathogenic | 272,620 |
Does the variant on chromosome 17 at location 43070934 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'] | CTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCT... | CTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCT... | pathogenic | 272,622 |
Variant at chromosome position 43070937, 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', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_4'] | TTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAA... | TTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAA... | pathogenic | 272,625 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43070941, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGA... | CTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGA... | pathogenic | 272,627 |
Evaluate this variant at chromosome 17, position 43070944, 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'] | TCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTA... | TCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTA... | pathogenic | 272,630 |
Classify the chromosome 17 variant at position 43070967 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', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_4'] | CAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAA... | CAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAA... | pathogenic | 272,638 |
Variant chromosome 17, position 43070968, 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', 'Ovarian_neoplasm'] | AGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAA... | AGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAA... | pathogenic | 272,639 |
Chromosome 17, position 43070968, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAA... | AGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAA... | pathogenic | 272,640 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome 17, position 43070972—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGT... | AAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGT... | pathogenic | 272,644 |
Determine whether the variant at chromosome 17, position 43070977, in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_carcinoma', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | AATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGT... | AATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGT... | pathogenic | 272,646 |
Does the variant on chromosome 17 at location 43070978 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'] | ATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTT... | ATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTT... | pathogenic | 272,647 |
Chromosome 17, position 43070980, 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', 'Hereditary_breast_ovarian_cancer_syndrome', 'Ovarian_neoplasm'] | TAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAG... | TAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAG... | pathogenic | 272,648 |
Variant at chromosome 17, position 43070980, gene BRCA1 (BRCA1 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | TAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAG... | TAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAG... | pathogenic | 272,649 |
Classify the chromosome 17 variant at position 43070992 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'] | TTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCT... | TTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCT... | pathogenic | 272,653 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43070994 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'] | ATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGA... | ATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGA... | pathogenic | 272,654 |
Is chromosome 17, position 43071003, 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', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAA... | GTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAA... | pathogenic | 272,658 |
A genetic alteration at chromosome 17, position 43071007, 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'] | ACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGA... | ACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGA... | pathogenic | 272,661 |
Does the variant on chromosome 17 at location 43071010 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'] | TAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCA... | TAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCA... | pathogenic | 272,662 |
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43071010—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | TAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCA... | TAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCA... | pathogenic | 272,663 |
Classify the chromosome 17 variant at position 43071017 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'] | TAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAAT... | TAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAAT... | pathogenic | 272,667 |
Is chromosome 17, position 43071020, 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'] | GTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATG... | GTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATG... | pathogenic | 272,668 |
Chromosome 17, position 43071022, 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', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGG... | ATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGG... | pathogenic | 272,670 |
For chromosome 17, position 43071022, 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'] | ATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGG... | ATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGG... | pathogenic | 272,671 |
Classify the chromosome 17 variant at position 43071023 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_cancer-predisposing_syndrome'] | TTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGC... | TTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGC... | pathogenic | 272,672 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 43071024, gene BRCA1 (BRCA1 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCT... | TGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCT... | pathogenic | 272,673 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43071028, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome'] | TGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAG... | TGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAG... | pathogenic | 272,675 |
A genetic variant at chromosome 17, position 43071028, 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', 'Hereditary_breast_ovarian_cancer_syndrome'] | TGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAG... | TGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAG... | pathogenic | 272,676 |
Is the genetic mutation found on chromosome 17 at position 43071035, within the gene BRCA1 (BRCA1 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAAT... | TAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAAT... | pathogenic | 272,679 |
Variant on chromosome 17, at position 43071036, 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'] | AACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATC... | AACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATC... | pathogenic | 272,680 |
Located at chromosome 17 position 43071041, the variant affecting gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | TGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTG... | TGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTG... | pathogenic | 272,683 |
Clinical significance of chromosome 17, position 43071042, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGT... | GTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGT... | pathogenic | 272,686 |
Considering the genetic mutation at chromosome 17, position 43071070, 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'] | ATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAAT... | ATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAAT... | pathogenic | 272,694 |
Is the chromosome 17, position 43071072 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'] | AGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTT... | AGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTT... | pathogenic | 272,695 |
Regarding the variant at chromosome 17 and position 43071075, 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'] | CACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACC... | CACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACC... | pathogenic | 272,697 |
Does the chromosome 17 mutation at position 43071076 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'] | ACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCA... | ACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCA... | pathogenic | 272,698 |
Evaluate if the mutation on chromosome 17 at position 43071076 in BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCA... | ACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCA... | pathogenic | 272,699 |
Determine whether the variant at chromosome 17, position 43071077, in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | CAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCAC... | CAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCAC... | pathogenic | 272,702 |
Does the genetic variant at chromosome 17, position 43071078, 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'] | AGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACA... | AGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACA... | pathogenic | 272,703 |
Is the genetic mutation found on chromosome 17 at position 43071079, within the gene BRCA1 (BRCA1 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | GCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACAC... | GCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACAC... | pathogenic | 272,704 |
Clinical classification of chromosome 17, position 43071085, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACC... | CACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACC... | pathogenic | 272,707 |
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43071090—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTC... | CAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTC... | pathogenic | 272,708 |
Chromosome 17, position 43071091, gene BRCA1 (BRCA1 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | AGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCT... | AGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCT... | pathogenic | 272,709 |
Variant at chromosome 17, position 43071092, gene BRCA1 (BRCA1 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTG... | GTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTG... | pathogenic | 272,710 |
Considering the genetic mutation at chromosome 17, position 43071099, impacting BRCA1 (BRCA1 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | CGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAG... | CGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAG... | pathogenic | 272,713 |
Is the genetic change at chromosome 17, position 43071103, 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'] | TTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCA... | TTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCA... | pathogenic | 272,717 |
Is the chromosome 17, position 43071107 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'] | ACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGT... | ACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGT... | pathogenic | 272,719 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43071110 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'] | ATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTT... | ATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTT... | pathogenic | 272,720 |
Mutation at chromosome 17, position 43071114, 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'] | TGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTC... | TGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTC... | pathogenic | 272,723 |
A genetic variant at chromosome 17, position 43071129, 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'] | GCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAG... | GCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAG... | pathogenic | 272,729 |
Variant at chromosome position 43071132, chromosome 17, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | ATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACA... | ATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACA... | pathogenic | 272,731 |
Is the variant located on chromosome 17 at position 43071135, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | TTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACA... | TTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACA... | pathogenic | 272,732 |
Does the variant on chromosome 17 at location 43071145 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'] | GTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAG... | GTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAG... | pathogenic | 272,734 |
For chromosome 17, position 43071148, 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'] | GCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCA... | GCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCA... | pathogenic | 272,738 |
A genetic variant on chromosome 17, position 43071149, 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', 'Familial_cancer_of_breast'] | CCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCAC... | CCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCAC... | pathogenic | 272,739 |
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43071154—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTA... | CTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTA... | pathogenic | 272,743 |
Is the chromosome 17, position 43071155 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'] | TCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAG... | TCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAG... | pathogenic | 272,744 |
Considering the genetic mutation at chromosome 17, position 43071158, 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', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCT... | ATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCT... | pathogenic | 272,746 |
Variant chromosome 17, position 43071163, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | GCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCT... | GCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCT... | pathogenic | 272,748 |
Does the variant impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17, position 43071168, classify as 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'] | AGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGC... | AGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGC... | pathogenic | 272,751 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43071170, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTC... | GGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTC... | pathogenic | 272,752 |
Determine if the mutation at chromosome 17, position 43071173 in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGA... | ACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGA... | pathogenic | 272,755 |
Variant chromosome 17, position 43071174, 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'] | CTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAA... | CTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAA... | pathogenic | 272,757 |
Considering the genetic mutation at chromosome 17, position 43071189, 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', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGA... | CTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGA... | pathogenic | 272,763 |
Mutation at chromosome 17, position 43071196, 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'] | AGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTA... | AGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTA... | pathogenic | 272,765 |
Is the genetic variant on chromosome 17, position 43071197, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAG... | GCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAG... | pathogenic | 272,766 |
Determine if the mutation at chromosome 17, position 43071197 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', 'Breast_neoplasm', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAG... | GCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAG... | pathogenic | 272,767 |
Variant at chromosome 17, position 43071201, gene BRCA1 (BRCA1 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_neoplasm', 'Hereditary_breast_ovarian_cancer_syndrome'] | ATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCA... | ATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCA... | pathogenic | 272,768 |
A genetic variant at chromosome 17, position 43071204, 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', 'Hereditary_breast_ovarian_cancer_syndrome'] | ACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTT... | ACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTT... | pathogenic | 272,770 |
Is chromosome 17, position 43071204, 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'] | ACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTT... | ACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTT... | pathogenic | 272,771 |
Variant on chromosome 17, at position 43071205, 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'] | CATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTT... | CATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTT... | pathogenic | 272,772 |
Variant at chromosome position 43071209, 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'] | CTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCC... | CTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCC... | pathogenic | 272,773 |
Is the genetic variant on chromosome 17, position 43071213, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCT... | CCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCT... | pathogenic | 272,774 |
Located at chromosome 17 position 43071216, 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'] | TTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTA... | TTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTA... | pathogenic | 272,775 |
Regarding the variant found on chromosome 17 at position 43071217 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'] | TTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAA... | TTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAA... | pathogenic | 272,777 |
Is the genetic mutation found on chromosome 17 at position 43071218, within the gene BRCA1 (BRCA1 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAA... | TTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAA... | pathogenic | 272,778 |
Is the chromosome 17, position 43071225 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'] | CACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGA... | CACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGA... | pathogenic | 272,782 |
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43071228—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACT... | CCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACT... | pathogenic | 272,783 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43071232: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCA... | CGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCA... | pathogenic | 272,787 |
Variant at chromosome 17, position 43071234, gene BRCA1 (BRCA1 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_neoplasm', 'Hereditary_cancer-predisposing_syndrome'] | CCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAA... | CCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAA... | pathogenic | 272,788 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43071521, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic? | benign | TTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAAT... | TTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAAT... | benign | 272,799 |
Clinical classification of chromosome 17, position 43072014, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | benign | TCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTG... | TCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTG... | benign | 272,800 |
Does the variant on chromosome 17 at location 43072875 affecting gene BRCA1 (BRCA1 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | ATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAAC... | ATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAAC... | benign | 272,804 |
Determine whether the variant at chromosome 17, position 43073637, in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCT... | CAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCT... | benign | 272,807 |
Clinically, how would you classify the variant at chromosome 17, position 43074331, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGT... | GGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGT... | pathogenic | 272,827 |
For chromosome 17, position 43074331, 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'] | GGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGT... | GGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGT... | pathogenic | 272,830 |
Chromosome 17, position 43074332, 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', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTT... | GAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTT... | pathogenic | 272,831 |
Regarding the variant at chromosome 17 and position 43074333, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTG... | AGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTG... | pathogenic | 272,832 |
Located at chromosome 17 position 43074337, 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'] | TGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCA... | TGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCA... | pathogenic | 272,833 |
Variant at chromosome 17, position 43074340, gene BRCA1 (BRCA1 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGC... | AGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGC... | pathogenic | 272,835 |
A mutation at chromosome position 43074347 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', 'Hereditary_cancer-predisposing_syndrome'] | GAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTG... | GAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTG... | pathogenic | 272,837 |
Determine if the mutation at chromosome 17, position 43074347 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', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTG... | GAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTG... | pathogenic | 272,838 |
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