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 |
|---|---|---|---|---|---|
For chromosome 17, position 61793748, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CTGCCCCATGGAAGTACAGCCCAGTGCCAAGAGAGCCTCCATTAGCCCACAATTCTTCCCATGGGGAAAAGTGAGAATATAGTGAGTGATTAATGAAATAAAGAAAATGTGGCACATATATATATAATGAAATATTCAGTCTTAAAAAAGAAGAAAATTTTGCCATTTGCAACAACATGGATGAAACTGGAAGTATTATGCTATCTGAAATAAGCCTGATAGAAAGACAAATACTGCATGCTATCACTCATATGTGTCATCTAAAAAAGTTGTACTCGTAGAAGCAGAGTCCTCAGCCCCAAAGTTCACTGGTGAAGATG... | CTGCCCCATGGAAGTACAGCCCAGTGCCAAGAGAGCCTCCATTAGCCCACAATTCTTCCCATGGGGAAAAGTGAGAATATAGTGAGTGATTAATGAAATAAAGAAAATGTGGCACATATATATATAATGAAATATTCAGTCTTAAAAAAGAAGAAAATTTTGCCATTTGCAACAACATGGATGAAACTGGAAGTATTATGCTATCTGAAATAAGCCTGATAGAAAGACAAATACTGCATGCTATCACTCATATGTGTCATCTAAAAAAGTTGTACTCGTAGAAGCAGAGTCCTCAGCCCCAAAGTTCACTGGTGAAGATG... | benign | 280,981 |
Does the variant on chromosome 17 at location 61799094 affecting gene BRIP1 (BRCA1 interacting DNA helicase 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TTGAAATGTCTATTTTGATATACAAAAAGAGCTATAAAGTAGATAGTTGGATATAAGAATGGCATTCTAGGGAGAGGCTGAAGCTAGAGACATAGGTTCAGGCCTCACCAGTACTGAAGATTATATTCTAAGCTATGATACTACAAACTATTTAGGGAAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAA... | TTGAAATGTCTATTTTGATATACAAAAAGAGCTATAAAGTAGATAGTTGGATATAAGAATGGCATTCTAGGGAGAGGCTGAAGCTAGAGACATAGGTTCAGGCCTCACCAGTACTGAAGATTATATTCTAAGCTATGATACTACAAACTATTTAGGGAAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAA... | pathogenic | 280,989 |
Does the variant on chromosome 17 at location 61799127 affecting gene BRIP1 (BRCA1 interacting DNA helicase 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast'] | ATAAAGTAGATAGTTGGATATAAGAATGGCATTCTAGGGAGAGGCTGAAGCTAGAGACATAGGTTCAGGCCTCACCAGTACTGAAGATTATATTCTAAGCTATGATACTACAAACTATTTAGGGAAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAA... | ATAAAGTAGATAGTTGGATATAAGAATGGCATTCTAGGGAGAGGCTGAAGCTAGAGACATAGGTTCAGGCCTCACCAGTACTGAAGATTATATTCTAAGCTATGATACTACAAACTATTTAGGGAAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAA... | pathogenic | 280,998 |
Clinically, how would you classify the variant at chromosome 17, position 61799148, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | AAGAATGGCATTCTAGGGAGAGGCTGAAGCTAGAGACATAGGTTCAGGCCTCACCAGTACTGAAGATTATATTCTAAGCTATGATACTACAAACTATTTAGGGAAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATA... | AAGAATGGCATTCTAGGGAGAGGCTGAAGCTAGAGACATAGGTTCAGGCCTCACCAGTACTGAAGATTATATTCTAAGCTATGATACTACAAACTATTTAGGGAAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATA... | pathogenic | 281,007 |
Gene mutation in BRIP1 (BRCA1 interacting DNA helicase 1) at chromosome 17, position 61799161—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TAGGGAGAGGCTGAAGCTAGAGACATAGGTTCAGGCCTCACCAGTACTGAAGATTATATTCTAAGCTATGATACTACAAACTATTTAGGGAAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAA... | TAGGGAGAGGCTGAAGCTAGAGACATAGGTTCAGGCCTCACCAGTACTGAAGATTATATTCTAAGCTATGATACTACAAACTATTTAGGGAAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAA... | pathogenic | 281,009 |
Regarding the variant at chromosome 17 and position 61799195, affecting gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | GCCTCACCAGTACTGAAGATTATATTCTAAGCTATGATACTACAAACTATTTAGGGAAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAACCTCTGTATTTGGCAATATAGAGATCACTAGTGA... | GCCTCACCAGTACTGAAGATTATATTCTAAGCTATGATACTACAAACTATTTAGGGAAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAACCTCTGTATTTGGCAATATAGAGATCACTAGTGA... | pathogenic | 281,017 |
Chromosome 17, position 61799203, gene BRIP1 (BRCA1 interacting DNA helicase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AGTACTGAAGATTATATTCTAAGCTATGATACTACAAACTATTTAGGGAAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAACCTCTGTATTTGGCAATATAGAGATCACTAGTGATCTTGATC... | AGTACTGAAGATTATATTCTAAGCTATGATACTACAAACTATTTAGGGAAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAACCTCTGTATTTGGCAATATAGAGATCACTAGTGATCTTGATC... | pathogenic | 281,021 |
A genetic variant at chromosome 17, position 61799204, affecting gene BRIP1 (BRCA1 interacting DNA helicase 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_Cancers'] | GTACTGAAGATTATATTCTAAGCTATGATACTACAAACTATTTAGGGAAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAACCTCTGTATTTGGCAATATAGAGATCACTAGTGATCTTGATCA... | GTACTGAAGATTATATTCTAAGCTATGATACTACAAACTATTTAGGGAAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAACCTCTGTATTTGGCAATATAGAGATCACTAGTGATCTTGATCA... | pathogenic | 281,023 |
The mutation impacting BRIP1 (BRCA1 interacting DNA helicase 1) on chromosome 17 at position 61799210: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AAGATTATATTCTAAGCTATGATACTACAAACTATTTAGGGAAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAACCTCTGTATTTGGCAATATAGAGATCACTAGTGATCTTGATCAAAACAA... | AAGATTATATTCTAAGCTATGATACTACAAACTATTTAGGGAAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAACCTCTGTATTTGGCAATATAGAGATCACTAGTGATCTTGATCAAAACAA... | pathogenic | 281,026 |
The mutation in gene BRIP1 (BRCA1 interacting DNA helicase 1) at chromosome 17, position 61799217—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TATTCTAAGCTATGATACTACAAACTATTTAGGGAAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAACCTCTGTATTTGGCAATATAGAGATCACTAGTGATCTTGATCAAAACAATTTGCGT... | TATTCTAAGCTATGATACTACAAACTATTTAGGGAAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAACCTCTGTATTTGGCAATATAGAGATCACTAGTGATCTTGATCAAAACAATTTGCGT... | pathogenic | 281,028 |
Does the chromosome 17 mutation at position 61799235 within gene BRIP1 (BRCA1 interacting DNA helicase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Familial_ovarian_cancer', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TACAAACTATTTAGGGAAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAACCTCTGTATTTGGCAATATAGAGATCACTAGTGATCTTGATCAAAACAATTTGCGTAGAATTGTCCAGAGAGCA... | TACAAACTATTTAGGGAAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAACCTCTGTATTTGGCAATATAGAGATCACTAGTGATCTTGATCAAAACAATTTGCGTAGAATTGTCCAGAGAGCA... | pathogenic | 281,034 |
The mutation in gene BRIP1 (BRCA1 interacting DNA helicase 1) at chromosome 17, position 61799235—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TACAAACTATTTAGGGAAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAACCTCTGTATTTGGCAATATAGAGATCACTAGTGATCTTGATCAAAACAATTTGCGTAGAATTGTCCAGAGAGCA... | TACAAACTATTTAGGGAAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAACCTCTGTATTTGGCAATATAGAGATCACTAGTGATCTTGATCAAAACAATTTGCGTAGAATTGTCCAGAGAGCA... | pathogenic | 281,035 |
Considering the genetic mutation at chromosome 17, position 61799251, impacting BRIP1 (BRCA1 interacting DNA helicase 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAACCTCTGTATTTGGCAATATAGAGATCACTAGTGATCTTGATCAAAACAATTTGCGTAGAATTGTCCAGAGAGCAACACTGCTAAGATCGA... | AAAATAGAACTACAGAAGAAACTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAACCTCTGTATTTGGCAATATAGAGATCACTAGTGATCTTGATCAAAACAATTTGCGTAGAATTGTCCAGAGAGCAACACTGCTAAGATCGA... | pathogenic | 281,040 |
The mutation impacting BRIP1 (BRCA1 interacting DNA helicase 1) on chromosome 17 at position 61799272: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | CTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAACCTCTGTATTTGGCAATATAGAGATCACTAGTGATCTTGATCAAAACAATTTGCGTAGAATTGTCCAGAGAGCAACACTGCTAAGATCGATGAGGGAAGAATGTCAAGTGA... | CTAGGTCCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAACCTCTGTATTTGGCAATATAGAGATCACTAGTGATCTTGATCAAAACAATTTGCGTAGAATTGTCCAGAGAGCAACACTGCTAAGATCGATGAGGGAAGAATGTCAAGTGA... | pathogenic | 281,043 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 61799278, gene BRIP1 (BRCA1 interacting DNA helicase 1): what disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | CCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAACCTCTGTATTTGGCAATATAGAGATCACTAGTGATCTTGATCAAAACAATTTGCGTAGAATTGTCCAGAGAGCAACACTGCTAAGATCGATGAGGGAAGAATGTCAAGTGAGAAAAT... | CCCAGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAACCTCTGTATTTGGCAATATAGAGATCACTAGTGATCTTGATCAAAACAATTTGCGTAGAATTGTCCAGAGAGCAACACTGCTAAGATCGATGAGGGAAGAATGTCAAGTGAGAAAAT... | pathogenic | 281,046 |
Evaluate the clinical significance of the mutation at chromosome 17, position 61799281 in gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAACCTCTGTATTTGGCAATATAGAGATCACTAGTGATCTTGATCAAAACAATTTGCGTAGAATTGTCCAGAGAGCAACACTGCTAAGATCGATGAGGGAAGAATGTCAAGTGAGAAAATAGA... | AGTACCAAGTAAGTCCTGAGGCACCCCAACATTTAGATATCAAAAAGAATAAGAATTATCAAAAGAAATGATAAAAAAAAATGGACTGTGAGAAGGAGGAAAATCAGAGATGTCACAGAAGCTAAGACAAAAATGCTTTTCAAAGAGGTAGTCATCAACTACCCAACACCACTGACTGGCTGAGATAAAAGAAACAATAACCTCTGTATTTGGCAATATAGAGATCACTAGTGATCTTGATCAAAACAATTTGCGTAGAATTGTCCAGAGAGCAACACTGCTAAGATCGATGAGGGAAGAATGTCAAGTGAGAAAATAGA... | pathogenic | 281,049 |
Is chromosome 17, position 61801254, gene BRIP1 (BRCA1 interacting DNA helicase 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | CTGTTACACTGTAACTTGCTGATTCCCGAGCACAGTCCTCGATGTTATGAGCTTCATCTAAAATGACAACCTGTTCTTTCAGATTTAAATCCATCTATAAGATAAAAGAATTTTCTTGTAAAACATTTGGCAAAATAGATTTAACAACAGCAGGCAAGATATTTCATTTTAAAATTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTG... | CTGTTACACTGTAACTTGCTGATTCCCGAGCACAGTCCTCGATGTTATGAGCTTCATCTAAAATGACAACCTGTTCTTTCAGATTTAAATCCATCTATAAGATAAAAGAATTTTCTTGTAAAACATTTGGCAAAATAGATTTAACAACAGCAGGCAAGATATTTCATTTTAAAATTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTG... | pathogenic | 281,066 |
Is chromosome 17, position 61801265, gene BRIP1 (BRCA1 interacting DNA helicase 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | TAACTTGCTGATTCCCGAGCACAGTCCTCGATGTTATGAGCTTCATCTAAAATGACAACCTGTTCTTTCAGATTTAAATCCATCTATAAGATAAAAGAATTTTCTTGTAAAACATTTGGCAAAATAGATTTAACAACAGCAGGCAAGATATTTCATTTTAAAATTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCG... | TAACTTGCTGATTCCCGAGCACAGTCCTCGATGTTATGAGCTTCATCTAAAATGACAACCTGTTCTTTCAGATTTAAATCCATCTATAAGATAAAAGAATTTTCTTGTAAAACATTTGGCAAAATAGATTTAACAACAGCAGGCAAGATATTTCATTTTAAAATTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCG... | pathogenic | 281,068 |
Classify the chromosome 17 variant at position 61801278 affecting gene BRIP1 (BRCA1 interacting DNA helicase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | CCCGAGCACAGTCCTCGATGTTATGAGCTTCATCTAAAATGACAACCTGTTCTTTCAGATTTAAATCCATCTATAAGATAAAAGAATTTTCTTGTAAAACATTTGGCAAAATAGATTTAACAACAGCAGGCAAGATATTTCATTTTAAAATTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAA... | CCCGAGCACAGTCCTCGATGTTATGAGCTTCATCTAAAATGACAACCTGTTCTTTCAGATTTAAATCCATCTATAAGATAAAAGAATTTTCTTGTAAAACATTTGGCAAAATAGATTTAACAACAGCAGGCAAGATATTTCATTTTAAAATTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAA... | pathogenic | 281,074 |
Variant at chromosome 17, position 61801282, gene BRIP1 (BRCA1 interacting DNA helicase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AGCACAGTCCTCGATGTTATGAGCTTCATCTAAAATGACAACCTGTTCTTTCAGATTTAAATCCATCTATAAGATAAAAGAATTTTCTTGTAAAACATTTGGCAAAATAGATTTAACAACAGCAGGCAAGATATTTCATTTTAAAATTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATG... | AGCACAGTCCTCGATGTTATGAGCTTCATCTAAAATGACAACCTGTTCTTTCAGATTTAAATCCATCTATAAGATAAAAGAATTTTCTTGTAAAACATTTGGCAAAATAGATTTAACAACAGCAGGCAAGATATTTCATTTTAAAATTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATG... | pathogenic | 281,076 |
Gene mutation in BRIP1 (BRCA1 interacting DNA helicase 1) at chromosome 17, position 61801305—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | CTTCATCTAAAATGACAACCTGTTCTTTCAGATTTAAATCCATCTATAAGATAAAAGAATTTTCTTGTAAAACATTTGGCAAAATAGATTTAACAACAGCAGGCAAGATATTTCATTTTAAAATTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTAC... | CTTCATCTAAAATGACAACCTGTTCTTTCAGATTTAAATCCATCTATAAGATAAAAGAATTTTCTTGTAAAACATTTGGCAAAATAGATTTAACAACAGCAGGCAAGATATTTCATTTTAAAATTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTAC... | pathogenic | 281,083 |
Is the variant located on chromosome 17 at position 61801320, gene BRIP1 (BRCA1 interacting DNA helicase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | CAACCTGTTCTTTCAGATTTAAATCCATCTATAAGATAAAAGAATTTTCTTGTAAAACATTTGGCAAAATAGATTTAACAACAGCAGGCAAGATATTTCATTTTAAAATTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGA... | CAACCTGTTCTTTCAGATTTAAATCCATCTATAAGATAAAAGAATTTTCTTGTAAAACATTTGGCAAAATAGATTTAACAACAGCAGGCAAGATATTTCATTTTAAAATTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGA... | pathogenic | 281,087 |
The chromosome 17, position 61801334 genetic variant in gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | AGATTTAAATCCATCTATAAGATAAAAGAATTTTCTTGTAAAACATTTGGCAAAATAGATTTAACAACAGCAGGCAAGATATTTCATTTTAAAATTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGAAAGGTATAAAATCC... | AGATTTAAATCCATCTATAAGATAAAAGAATTTTCTTGTAAAACATTTGGCAAAATAGATTTAACAACAGCAGGCAAGATATTTCATTTTAAAATTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGAAAGGTATAAAATCC... | pathogenic | 281,093 |
A genetic alteration at chromosome 17, position 61801337, in gene BRIP1 (BRCA1 interacting DNA helicase 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TTTAAATCCATCTATAAGATAAAAGAATTTTCTTGTAAAACATTTGGCAAAATAGATTTAACAACAGCAGGCAAGATATTTCATTTTAAAATTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGAAAGGTATAAAATCCCAC... | TTTAAATCCATCTATAAGATAAAAGAATTTTCTTGTAAAACATTTGGCAAAATAGATTTAACAACAGCAGGCAAGATATTTCATTTTAAAATTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGAAAGGTATAAAATCCCAC... | pathogenic | 281,094 |
Considering the genetic mutation at chromosome 17, position 61801374, impacting BRIP1 (BRCA1 interacting DNA helicase 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AAACATTTGGCAAAATAGATTTAACAACAGCAGGCAAGATATTTCATTTTAAAATTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGAAAGGTATAAAATCCCACTATGAAAGTGTTTCCAACATAATTTTACAAACTAATT... | AAACATTTGGCAAAATAGATTTAACAACAGCAGGCAAGATATTTCATTTTAAAATTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGAAAGGTATAAAATCCCACTATGAAAGTGTTTCCAACATAATTTTACAAACTAATT... | pathogenic | 281,104 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 61801402, gene BRIP1 (BRCA1 interacting DNA helicase 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AGCAGGCAAGATATTTCATTTTAAAATTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGAAAGGTATAAAATCCCACTATGAAAGTGTTTCCAACATAATTTTACAAACTAATTATAAGACCTTTAAAAATAAAATAACAAT... | AGCAGGCAAGATATTTCATTTTAAAATTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGAAAGGTATAAAATCCCACTATGAAAGTGTTTCCAACATAATTTTACAAACTAATTATAAGACCTTTAAAAATAAAATAACAAT... | pathogenic | 281,113 |
Is chromosome 17, position 61801408, gene BRIP1 (BRCA1 interacting DNA helicase 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | CAAGATATTTCATTTTAAAATTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGAAAGGTATAAAATCCCACTATGAAAGTGTTTCCAACATAATTTTACAAACTAATTATAAGACCTTTAAAAATAAAATAACAATATAAGA... | CAAGATATTTCATTTTAAAATTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGAAAGGTATAAAATCCCACTATGAAAGTGTTTCCAACATAATTTTACAAACTAATTATAAGACCTTTAAAAATAAAATAACAATATAAGA... | pathogenic | 281,114 |
Variant at chromosome position 61801428, chromosome 17, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGAAAGGTATAAAATCCCACTATGAAAGTGTTTCCAACATAATTTTACAAACTAATTATAAGACCTTTAAAAATAAAATAACAATATAAGATTAAAAGCATAAGACCTTTA... | TTCACACTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGAAAGGTATAAAATCCCACTATGAAAGTGTTTCCAACATAATTTTACAAACTAATTATAAGACCTTTAAAAATAAAATAACAATATAAGATTAAAAGCATAAGACCTTTA... | pathogenic | 281,121 |
Is the variant located on chromosome 17 at position 61801434, gene BRIP1 (BRCA1 interacting DNA helicase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | CTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGAAAGGTATAAAATCCCACTATGAAAGTGTTTCCAACATAATTTTACAAACTAATTATAAGACCTTTAAAAATAAAATAACAATATAAGATTAAAAGCATAAGACCTTTAAAAGTA... | CTATAGGCCAATATTGCAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGAAAGGTATAAAATCCCACTATGAAAGTGTTTCCAACATAATTTTACAAACTAATTATAAGACCTTTAAAAATAAAATAACAATATAAGATTAAAAGCATAAGACCTTTAAAAGTA... | pathogenic | 281,123 |
A genetic alteration at chromosome 17, position 61801450, in gene BRIP1 (BRCA1 interacting DNA helicase 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGAAAGGTATAAAATCCCACTATGAAAGTGTTTCCAACATAATTTTACAAACTAATTATAAGACCTTTAAAAATAAAATAACAATATAAGATTAAAAGCATAAGACCTTTAAAAGTAAAATAACAATACAAGA... | CAAATGCAATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGAAAGGTATAAAATCCCACTATGAAAGTGTTTCCAACATAATTTTACAAACTAATTATAAGACCTTTAAAAATAAAATAACAATATAAGATTAAAAGCATAAGACCTTTAAAAGTAAAATAACAATACAAGA... | pathogenic | 281,127 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 61801457, gene BRIP1 (BRCA1 interacting DNA helicase 1): what disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | AATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGAAAGGTATAAAATCCCACTATGAAAGTGTTTCCAACATAATTTTACAAACTAATTATAAGACCTTTAAAAATAAAATAACAATATAAGATTAAAAGCATAAGACCTTTAAAAGTAAAATAACAATACAAGATTAAAAG... | AATTACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGAAAGGTATAAAATCCCACTATGAAAGTGTTTCCAACATAATTTTACAAACTAATTATAAGACCTTTAAAAATAAAATAACAATATAAGATTAAAAGCATAAGACCTTTAAAAGTAAAATAACAATACAAGATTAAAAG... | pathogenic | 281,130 |
Does the genetic variant at chromosome 17, position 61801460, impacting gene BRIP1 (BRCA1 interacting DNA helicase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'likely other unspecified diseases'] | TACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGAAAGGTATAAAATCCCACTATGAAAGTGTTTCCAACATAATTTTACAAACTAATTATAAGACCTTTAAAAATAAAATAACAATATAAGATTAAAAGCATAAGACCTTTAAAAGTAAAATAACAATACAAGATTAAAAGCAT... | TACATAAGCAACAGAGATTCTAGGTCTTAAATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGAAAGGTATAAAATCCCACTATGAAAGTGTTTCCAACATAATTTTACAAACTAATTATAAGACCTTTAAAAATAAAATAACAATATAAGATTAAAAGCATAAGACCTTTAAAAGTAAAATAACAATACAAGATTAAAAGCAT... | pathogenic | 281,131 |
Evaluate if the mutation on chromosome 17 at position 61801490 in BRIP1 (BRCA1 interacting DNA helicase 1) is benign or pathogenic. Disease name(s) if pathogenic? | benign | ATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGAAAGGTATAAAATCCCACTATGAAAGTGTTTCCAACATAATTTTACAAACTAATTATAAGACCTTTAAAAATAAAATAACAATATAAGATTAAAAGCATAAGACCTTTAAAAGTAAAATAACAATACAAGATTAAAAGCATAAAACCTTTAAAAGTAAAATAACAATACAA... | ATAAAACTTCTGAAGCACTATGGCCAACCAAATATCAGCTCTACATTATTGTGTTTGCCATTTTTTTACTCTTAAAATACTTTGCAAACCTATCGACAGCAACAAAAATATGTCAGTGAGTCTGGATCAAGGTACCACAGGCTACACAGAAAGGTATAAAATCCCACTATGAAAGTGTTTCCAACATAATTTTACAAACTAATTATAAGACCTTTAAAAATAAAATAACAATATAAGATTAAAAGCATAAGACCTTTAAAAGTAAAATAACAATACAAGATTAAAAGCATAAAACCTTTAAAAGTAAAATAACAATACAA... | benign | 281,142 |
Is the chromosome 17, position 61808466 variant in BRIP1 (BRCA1 interacting DNA helicase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | CACAAGCAGATATCTTCAATTATTCATATTACTAATATTAAAAAATAAAATACCTGTTCACTTTAAGACAAACTAAAGGCCAATGAAAAATTCGGAACATTGAAGTCTACTGAATTCCTTTTTATTTTTACATGATTCAAACTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTG... | CACAAGCAGATATCTTCAATTATTCATATTACTAATATTAAAAAATAAAATACCTGTTCACTTTAAGACAAACTAAAGGCCAATGAAAAATTCGGAACATTGAAGTCTACTGAATTCCTTTTTATTTTTACATGATTCAAACTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTG... | pathogenic | 281,152 |
Evaluate if the mutation on chromosome 17 at position 61808467 in BRIP1 (BRCA1 interacting DNA helicase 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | ACAAGCAGATATCTTCAATTATTCATATTACTAATATTAAAAAATAAAATACCTGTTCACTTTAAGACAAACTAAAGGCCAATGAAAAATTCGGAACATTGAAGTCTACTGAATTCCTTTTTATTTTTACATGATTCAAACTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGC... | ACAAGCAGATATCTTCAATTATTCATATTACTAATATTAAAAAATAAAATACCTGTTCACTTTAAGACAAACTAAAGGCCAATGAAAAATTCGGAACATTGAAGTCTACTGAATTCCTTTTTATTTTTACATGATTCAAACTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGC... | pathogenic | 281,154 |
Gene BRIP1 (BRCA1 interacting DNA helicase 1) variant at chromosome position 61808481 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TCAATTATTCATATTACTAATATTAAAAAATAAAATACCTGTTCACTTTAAGACAAACTAAAGGCCAATGAAAAATTCGGAACATTGAAGTCTACTGAATTCCTTTTTATTTTTACATGATTCAAACTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGC... | TCAATTATTCATATTACTAATATTAAAAAATAAAATACCTGTTCACTTTAAGACAAACTAAAGGCCAATGAAAAATTCGGAACATTGAAGTCTACTGAATTCCTTTTTATTTTTACATGATTCAAACTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGC... | pathogenic | 281,157 |
A genetic variant at chromosome 17, position 61808494, affecting gene BRIP1 (BRCA1 interacting DNA helicase 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | TTACTAATATTAAAAAATAAAATACCTGTTCACTTTAAGACAAACTAAAGGCCAATGAAAAATTCGGAACATTGAAGTCTACTGAATTCCTTTTTATTTTTACATGATTCAAACTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCT... | TTACTAATATTAAAAAATAAAATACCTGTTCACTTTAAGACAAACTAAAGGCCAATGAAAAATTCGGAACATTGAAGTCTACTGAATTCCTTTTTATTTTTACATGATTCAAACTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCT... | pathogenic | 281,161 |
Regarding the variant at chromosome 17 and position 61808494, affecting gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | TTACTAATATTAAAAAATAAAATACCTGTTCACTTTAAGACAAACTAAAGGCCAATGAAAAATTCGGAACATTGAAGTCTACTGAATTCCTTTTTATTTTTACATGATTCAAACTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCT... | TTACTAATATTAAAAAATAAAATACCTGTTCACTTTAAGACAAACTAAAGGCCAATGAAAAATTCGGAACATTGAAGTCTACTGAATTCCTTTTTATTTTTACATGATTCAAACTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCT... | pathogenic | 281,162 |
The mutation impacting BRIP1 (BRCA1 interacting DNA helicase 1) on chromosome 17 at position 61808508: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AAATAAAATACCTGTTCACTTTAAGACAAACTAAAGGCCAATGAAAAATTCGGAACATTGAAGTCTACTGAATTCCTTTTTATTTTTACATGATTCAAACTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAAC... | AAATAAAATACCTGTTCACTTTAAGACAAACTAAAGGCCAATGAAAAATTCGGAACATTGAAGTCTACTGAATTCCTTTTTATTTTTACATGATTCAAACTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAAC... | pathogenic | 281,165 |
Is the variant located on chromosome 17 at position 61808509, gene BRIP1 (BRCA1 interacting DNA helicase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_cancer_of_breast', 'Malignant_tumor_of_breast'] | AATAAAATACCTGTTCACTTTAAGACAAACTAAAGGCCAATGAAAAATTCGGAACATTGAAGTCTACTGAATTCCTTTTTATTTTTACATGATTCAAACTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACC... | AATAAAATACCTGTTCACTTTAAGACAAACTAAAGGCCAATGAAAAATTCGGAACATTGAAGTCTACTGAATTCCTTTTTATTTTTACATGATTCAAACTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACC... | pathogenic | 281,166 |
A mutation at chromosome position 61808518 on chromosome 17 in gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | CCTGTTCACTTTAAGACAAACTAAAGGCCAATGAAAAATTCGGAACATTGAAGTCTACTGAATTCCTTTTTATTTTTACATGATTCAAACTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCC... | CCTGTTCACTTTAAGACAAACTAAAGGCCAATGAAAAATTCGGAACATTGAAGTCTACTGAATTCCTTTTTATTTTTACATGATTCAAACTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCC... | pathogenic | 281,170 |
Regarding the variant found on chromosome 17 at position 61808540 in gene BRIP1 (BRCA1 interacting DNA helicase 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AAAGGCCAATGAAAAATTCGGAACATTGAAGTCTACTGAATTCCTTTTTATTTTTACATGATTCAAACTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGC... | AAAGGCCAATGAAAAATTCGGAACATTGAAGTCTACTGAATTCCTTTTTATTTTTACATGATTCAAACTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGC... | pathogenic | 281,175 |
Assess the variant on chromosome 17, position 61808544, impacting BRIP1 (BRCA1 interacting DNA helicase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | GCCAATGAAAAATTCGGAACATTGAAGTCTACTGAATTCCTTTTTATTTTTACATGATTCAAACTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCA... | GCCAATGAAAAATTCGGAACATTGAAGTCTACTGAATTCCTTTTTATTTTTACATGATTCAAACTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCA... | pathogenic | 281,177 |
The mutation impacting BRIP1 (BRCA1 interacting DNA helicase 1) on chromosome 17 at position 61808605: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | AACTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTT... | AACTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTT... | pathogenic | 281,194 |
Evaluate this variant at chromosome 17, position 61808607, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | CTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTT... | CTTATGAGTAAAGATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTT... | pathogenic | 281,195 |
A mutation at chromosome position 61808620 on chromosome 17 in gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_cancer_of_breast', 'Familial_ovarian_cancer', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | ATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGT... | ATCAATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGT... | pathogenic | 281,198 |
Is the genetic change at chromosome 17, position 61808624, within gene BRIP1 (BRCA1 interacting DNA helicase 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | ATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTG... | ATAAAAACGTAACCAGCACTGTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTG... | pathogenic | 281,199 |
Mutation found at chromosome 17 position 61808644, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | GTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTGCCATGTTGGCCAGGCCAGTC... | GTAGGATTCTAGGTTACACAAAATGAAACTGTCTGCCTTCAATACACAATCTTACACTTTATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTGCCATGTTGGCCAGGCCAGTC... | pathogenic | 281,205 |
A genetic variant on chromosome 17, position 61808703, affects the gene BRIP1 (BRCA1 interacting DNA helicase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCAAGTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCAT... | TATCATTGCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCAAGTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCAT... | pathogenic | 281,223 |
A genetic variant on chromosome 17, position 61808710, affects the gene BRIP1 (BRCA1 interacting DNA helicase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['BRIP1-related_disorder', 'Familial_cancer_of_breast'] | GCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCAAGTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCAT... | GCTTTTACCAATGTATTTTACCAATGTATGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCAAGTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCAT... | pathogenic | 281,227 |
Benign or pathogenic: chromosome 17, position 61808738, gene BRIP1 (BRCA1 interacting DNA helicase 1) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCAAGTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCATCAGGCCCAGCCAATGTATTTTTTACAAA... | TGTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCAAGTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCATCAGGCCCAGCCAATGTATTTTTTACAAA... | pathogenic | 281,236 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 61808739, gene BRIP1 (BRCA1 interacting DNA helicase 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | GTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCAAGTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCATCAGGCCCAGCCAATGTATTTTTTACAAAT... | GTTTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCAAGTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCATCAGGCCCAGCCAATGTATTTTTTACAAAT... | pathogenic | 281,237 |
Located at chromosome 17 position 61808741, the variant affecting gene BRIP1 (BRCA1 interacting DNA helicase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | TTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCAAGTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCATCAGGCCCAGCCAATGTATTTTTTACAAATAC... | TTTTGGTTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCAAGTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCATCAGGCCCAGCCAATGTATTTTTTACAAATAC... | pathogenic | 281,238 |
Variant at chromosome 17, position 61808747, gene BRIP1 (BRCA1 interacting DNA helicase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCAAGTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCATCAGGCCCAGCCAATGTATTTTTTACAAATACATAATT... | TTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCAAGTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCATCAGGCCCAGCCAATGTATTTTTTACAAATACATAATT... | pathogenic | 281,239 |
Does the variant on chromosome 17 at location 61808747 affecting gene BRIP1 (BRCA1 interacting DNA helicase 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCAAGTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCATCAGGCCCAGCCAATGTATTTTTTACAAATACATAATT... | TTGGTTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCAAGTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCATCAGGCCCAGCCAATGTATTTTTTACAAATACATAATT... | pathogenic | 281,240 |
Clinical classification of chromosome 17, position 61808751, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_cancer'] | TTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCAAGTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCATCAGGCCCAGCCAATGTATTTTTTACAAATACATAATTAATT... | TTGGTTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCAAGTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCATCAGGCCCAGCCAATGTATTTTTTACAAATACATAATTAATT... | pathogenic | 281,243 |
A genetic alteration at chromosome 17, position 61808755, in gene BRIP1 (BRCA1 interacting DNA helicase 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCAAGTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCATCAGGCCCAGCCAATGTATTTTTTACAAATACATAATTAATTTCCC... | TTGTTTTTGAGACAAGAGCCTTGCTCTGTTGCCCAGGCTGCAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGTGTTTTGCCATGTTGGCCAGGCCAGTCTCGAACTCCTGACCTCAAGTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCATCAGGCCCAGCCAATGTATTTTTTACAAATACATAATTAATTTCCC... | pathogenic | 281,247 |
Variant in BRIP1 (BRCA1 interacting DNA helicase 1), chromosome 17, position 61847100—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_cancer_of_breast'] | AAGTAATCAAGTAATTTCAGATAATAGTAAGCCCATGAAGGAAAGGAAAGAAAATGAATGAGAAAACACTGTGGCAGAGCTCAACATATAGCTTACATTATAATGATGTTGATGATTATTGCAATTTAACAGAAGAAGCTTCTACATAATTTCTCCAACTATTAATATAAAGCTTCAGTGAAGATCACCAACAAAACACAAATTAAATGTACAGTAACTGAAAACAAATCTGTGGTTGCCTGGGAATGGGGGGACAGGGCAGAAAAAAGGTCCATCAGTCTATCTTGCACTTAGGATGGACCTTTTCTAGGCATCATTTT... | AAGTAATCAAGTAATTTCAGATAATAGTAAGCCCATGAAGGAAAGGAAAGAAAATGAATGAGAAAACACTGTGGCAGAGCTCAACATATAGCTTACATTATAATGATGTTGATGATTATTGCAATTTAACAGAAGAAGCTTCTACATAATTTCTCCAACTATTAATATAAAGCTTCAGTGAAGATCACCAACAAAACACAAATTAAATGTACAGTAACTGAAAACAAATCTGTGGTTGCCTGGGAATGGGGGGACAGGGCAGAAAAAAGGTCCATCAGTCTATCTTGCACTTAGGATGGACCTTTTCTAGGCATCATTTT... | pathogenic | 281,258 |
Variant on chromosome 17, at position 61847111, affecting BRIP1 (BRCA1 interacting DNA helicase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAATTTCAGATAATAGTAAGCCCATGAAGGAAAGGAAAGAAAATGAATGAGAAAACACTGTGGCAGAGCTCAACATATAGCTTACATTATAATGATGTTGATGATTATTGCAATTTAACAGAAGAAGCTTCTACATAATTTCTCCAACTATTAATATAAAGCTTCAGTGAAGATCACCAACAAAACACAAATTAAATGTACAGTAACTGAAAACAAATCTGTGGTTGCCTGGGAATGGGGGGACAGGGCAGAAAAAAGGTCCATCAGTCTATCTTGCACTTAGGATGGACCTTTTCTAGGCATCATTTTGCAATATCATG... | TAATTTCAGATAATAGTAAGCCCATGAAGGAAAGGAAAGAAAATGAATGAGAAAACACTGTGGCAGAGCTCAACATATAGCTTACATTATAATGATGTTGATGATTATTGCAATTTAACAGAAGAAGCTTCTACATAATTTCTCCAACTATTAATATAAAGCTTCAGTGAAGATCACCAACAAAACACAAATTAAATGTACAGTAACTGAAAACAAATCTGTGGTTGCCTGGGAATGGGGGGACAGGGCAGAAAAAAGGTCCATCAGTCTATCTTGCACTTAGGATGGACCTTTTCTAGGCATCATTTTGCAATATCATG... | pathogenic | 281,263 |
Does the chromosome 17 mutation at position 61847119 within gene BRIP1 (BRCA1 interacting DNA helicase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | GATAATAGTAAGCCCATGAAGGAAAGGAAAGAAAATGAATGAGAAAACACTGTGGCAGAGCTCAACATATAGCTTACATTATAATGATGTTGATGATTATTGCAATTTAACAGAAGAAGCTTCTACATAATTTCTCCAACTATTAATATAAAGCTTCAGTGAAGATCACCAACAAAACACAAATTAAATGTACAGTAACTGAAAACAAATCTGTGGTTGCCTGGGAATGGGGGGACAGGGCAGAAAAAAGGTCCATCAGTCTATCTTGCACTTAGGATGGACCTTTTCTAGGCATCATTTTGCAATATCATGCACTGGTC... | GATAATAGTAAGCCCATGAAGGAAAGGAAAGAAAATGAATGAGAAAACACTGTGGCAGAGCTCAACATATAGCTTACATTATAATGATGTTGATGATTATTGCAATTTAACAGAAGAAGCTTCTACATAATTTCTCCAACTATTAATATAAAGCTTCAGTGAAGATCACCAACAAAACACAAATTAAATGTACAGTAACTGAAAACAAATCTGTGGTTGCCTGGGAATGGGGGGACAGGGCAGAAAAAAGGTCCATCAGTCTATCTTGCACTTAGGATGGACCTTTTCTAGGCATCATTTTGCAATATCATGCACTGGTC... | pathogenic | 281,265 |
The chromosome 17, position 61847151 genetic variant in gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AAATGAATGAGAAAACACTGTGGCAGAGCTCAACATATAGCTTACATTATAATGATGTTGATGATTATTGCAATTTAACAGAAGAAGCTTCTACATAATTTCTCCAACTATTAATATAAAGCTTCAGTGAAGATCACCAACAAAACACAAATTAAATGTACAGTAACTGAAAACAAATCTGTGGTTGCCTGGGAATGGGGGGACAGGGCAGAAAAAAGGTCCATCAGTCTATCTTGCACTTAGGATGGACCTTTTCTAGGCATCATTTTGCAATATCATGCACTGGTCATTTAAATAATATTTAGTTCGCTGAGTTTAAG... | AAATGAATGAGAAAACACTGTGGCAGAGCTCAACATATAGCTTACATTATAATGATGTTGATGATTATTGCAATTTAACAGAAGAAGCTTCTACATAATTTCTCCAACTATTAATATAAAGCTTCAGTGAAGATCACCAACAAAACACAAATTAAATGTACAGTAACTGAAAACAAATCTGTGGTTGCCTGGGAATGGGGGGACAGGGCAGAAAAAAGGTCCATCAGTCTATCTTGCACTTAGGATGGACCTTTTCTAGGCATCATTTTGCAATATCATGCACTGGTCATTTAAATAATATTTAGTTCGCTGAGTTTAAG... | pathogenic | 281,277 |
Gene mutation in BRIP1 (BRCA1 interacting DNA helicase 1) at chromosome 17, position 61847179—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | CTCAACATATAGCTTACATTATAATGATGTTGATGATTATTGCAATTTAACAGAAGAAGCTTCTACATAATTTCTCCAACTATTAATATAAAGCTTCAGTGAAGATCACCAACAAAACACAAATTAAATGTACAGTAACTGAAAACAAATCTGTGGTTGCCTGGGAATGGGGGGACAGGGCAGAAAAAAGGTCCATCAGTCTATCTTGCACTTAGGATGGACCTTTTCTAGGCATCATTTTGCAATATCATGCACTGGTCATTTAAATAATATTTAGTTCGCTGAGTTTAAGTTCATTGAGTTTTACAGATCTTACAAAT... | CTCAACATATAGCTTACATTATAATGATGTTGATGATTATTGCAATTTAACAGAAGAAGCTTCTACATAATTTCTCCAACTATTAATATAAAGCTTCAGTGAAGATCACCAACAAAACACAAATTAAATGTACAGTAACTGAAAACAAATCTGTGGTTGCCTGGGAATGGGGGGACAGGGCAGAAAAAAGGTCCATCAGTCTATCTTGCACTTAGGATGGACCTTTTCTAGGCATCATTTTGCAATATCATGCACTGGTCATTTAAATAATATTTAGTTCGCTGAGTTTAAGTTCATTGAGTTTTACAGATCTTACAAAT... | pathogenic | 281,282 |
The mutation impacting BRIP1 (BRCA1 interacting DNA helicase 1) on chromosome 17 at position 61847191: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | CTTACATTATAATGATGTTGATGATTATTGCAATTTAACAGAAGAAGCTTCTACATAATTTCTCCAACTATTAATATAAAGCTTCAGTGAAGATCACCAACAAAACACAAATTAAATGTACAGTAACTGAAAACAAATCTGTGGTTGCCTGGGAATGGGGGGACAGGGCAGAAAAAAGGTCCATCAGTCTATCTTGCACTTAGGATGGACCTTTTCTAGGCATCATTTTGCAATATCATGCACTGGTCATTTAAATAATATTTAGTTCGCTGAGTTTAAGTTCATTGAGTTTTACAGATCTTACAAATGTTGACACATTT... | CTTACATTATAATGATGTTGATGATTATTGCAATTTAACAGAAGAAGCTTCTACATAATTTCTCCAACTATTAATATAAAGCTTCAGTGAAGATCACCAACAAAACACAAATTAAATGTACAGTAACTGAAAACAAATCTGTGGTTGCCTGGGAATGGGGGGACAGGGCAGAAAAAAGGTCCATCAGTCTATCTTGCACTTAGGATGGACCTTTTCTAGGCATCATTTTGCAATATCATGCACTGGTCATTTAAATAATATTTAGTTCGCTGAGTTTAAGTTCATTGAGTTTTACAGATCTTACAAATGTTGACACATTT... | pathogenic | 281,285 |
Variant at chromosome 17, position 61849154, gene BRIP1 (BRCA1 interacting DNA helicase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | GTGGCGAAAAGGAGTTTATCTTTTCCAGTGGAGAGTTGAGTTTTACAGTCTTTCCTGAATCAACTTTTGCATCCAAATTGTGTACTTCTGTTCCAAAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTC... | GTGGCGAAAAGGAGTTTATCTTTTCCAGTGGAGAGTTGAGTTTTACAGTCTTTCCTGAATCAACTTTTGCATCCAAATTGTGTACTTCTGTTCCAAAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTC... | pathogenic | 281,313 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 61849157, gene BRIP1 (BRCA1 interacting DNA helicase 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | GCGAAAAGGAGTTTATCTTTTCCAGTGGAGAGTTGAGTTTTACAGTCTTTCCTGAATCAACTTTTGCATCCAAATTGTGTACTTCTGTTCCAAAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATG... | GCGAAAAGGAGTTTATCTTTTCCAGTGGAGAGTTGAGTTTTACAGTCTTTCCTGAATCAACTTTTGCATCCAAATTGTGTACTTCTGTTCCAAAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATG... | pathogenic | 281,314 |
Mutation at chromosome 17, position 61849161, within BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AAAGGAGTTTATCTTTTCCAGTGGAGAGTTGAGTTTTACAGTCTTTCCTGAATCAACTTTTGCATCCAAATTGTGTACTTCTGTTCCAAAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATC... | AAAGGAGTTTATCTTTTCCAGTGGAGAGTTGAGTTTTACAGTCTTTCCTGAATCAACTTTTGCATCCAAATTGTGTACTTCTGTTCCAAAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATC... | pathogenic | 281,316 |
Regarding the variant at chromosome 17 and position 61849173, affecting gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | CTTTTCCAGTGGAGAGTTGAGTTTTACAGTCTTTCCTGAATCAACTTTTGCATCCAAATTGTGTACTTCTGTTCCAAAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTA... | CTTTTCCAGTGGAGAGTTGAGTTTTACAGTCTTTCCTGAATCAACTTTTGCATCCAAATTGTGTACTTCTGTTCCAAAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTA... | pathogenic | 281,321 |
Classify the chromosome 17 variant at position 61849173 affecting gene BRIP1 (BRCA1 interacting DNA helicase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | CTTTTCCAGTGGAGAGTTGAGTTTTACAGTCTTTCCTGAATCAACTTTTGCATCCAAATTGTGTACTTCTGTTCCAAAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTA... | CTTTTCCAGTGGAGAGTTGAGTTTTACAGTCTTTCCTGAATCAACTTTTGCATCCAAATTGTGTACTTCTGTTCCAAAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTA... | pathogenic | 281,322 |
Mutation found at chromosome 17 position 61849191, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GAGTTTTACAGTCTTTCCTGAATCAACTTTTGCATCCAAATTGTGTACTTCTGTTCCAAAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTATCTTTAATTAGTGATGTA... | GAGTTTTACAGTCTTTCCTGAATCAACTTTTGCATCCAAATTGTGTACTTCTGTTCCAAAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTATCTTTAATTAGTGATGTA... | pathogenic | 281,326 |
Evaluate this variant at chromosome 17, position 61849195, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTACAGTCTTTCCTGAATCAACTTTTGCATCCAAATTGTGTACTTCTGTTCCAAAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTATCTTTAATTAGTGATGTATCAA... | TTTACAGTCTTTCCTGAATCAACTTTTGCATCCAAATTGTGTACTTCTGTTCCAAAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTATCTTTAATTAGTGATGTATCAA... | pathogenic | 281,328 |
Classify the chromosome 17 variant at position 61849196 affecting gene BRIP1 (BRCA1 interacting DNA helicase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | TTACAGTCTTTCCTGAATCAACTTTTGCATCCAAATTGTGTACTTCTGTTCCAAAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTATCTTTAATTAGTGATGTATCAAA... | TTACAGTCTTTCCTGAATCAACTTTTGCATCCAAATTGTGTACTTCTGTTCCAAAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTATCTTTAATTAGTGATGTATCAAA... | pathogenic | 281,329 |
Clinically, how would you classify the variant at chromosome 17, position 61849225, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TCCAAATTGTGTACTTCTGTTCCAAAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTATCTTTAATTAGTGATGTATCAAAATTAGAGTATTGTAAAATGAACTTCTCAT... | TCCAAATTGTGTACTTCTGTTCCAAAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTATCTTTAATTAGTGATGTATCAAAATTAGAGTATTGTAAAATGAACTTCTCAT... | pathogenic | 281,339 |
Chromosome 17, position 61849235, gene BRIP1 (BRCA1 interacting DNA helicase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTACTTCTGTTCCAAAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTATCTTTAATTAGTGATGTATCAAAATTAGAGTATTGTAAAATGAACTTCTCATAAAATAGTCC... | GTACTTCTGTTCCAAAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTATCTTTAATTAGTGATGTATCAAAATTAGAGTATTGTAAAATGAACTTCTCATAAAATAGTCC... | pathogenic | 281,342 |
Considering the variant on chromosome 17, location 61849241, involving gene BRIP1 (BRCA1 interacting DNA helicase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | CTGTTCCAAAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTATCTTTAATTAGTGATGTATCAAAATTAGAGTATTGTAAAATGAACTTCTCATAAAATAGTCCCATCAT... | CTGTTCCAAAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTATCTTTAATTAGTGATGTATCAAAATTAGAGTATTGTAAAATGAACTTCTCATAAAATAGTCCCATCAT... | pathogenic | 281,344 |
Clinical classification of chromosome 17, position 61849249, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | AAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTATCTTTAATTAGTGATGTATCAAAATTAGAGTATTGTAAAATGAACTTCTCATAAAATAGTCCCATCATATGGACAT... | AAGCAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTATCTTTAATTAGTGATGTATCAAAATTAGAGTATTGTAAAATGAACTTCTCATAAAATAGTCCCATCATATGGACAT... | pathogenic | 281,345 |
Variant on chromosome 17, at position 61849252, affecting BRIP1 (BRCA1 interacting DNA helicase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | CAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTATCTTTAATTAGTGATGTATCAAAATTAGAGTATTGTAAAATGAACTTCTCATAAAATAGTCCCATCATATGGACATCAA... | CAATGACGTTTTCTAATCTGTAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTATCTTTAATTAGTGATGTATCAAAATTAGAGTATTGTAAAATGAACTTCTCATAAAATAGTCCCATCATATGGACATCAA... | pathogenic | 281,348 |
Assess the variant on chromosome 17, position 61849272, impacting BRIP1 (BRCA1 interacting DNA helicase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTATCTTTAATTAGTGATGTATCAAAATTAGAGTATTGTAAAATGAACTTCTCATAAAATAGTCCCATCATATGGACATCAAATATAGCAATATTGGAAAGT... | TAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTATCTTTAATTAGTGATGTATCAAAATTAGAGTATTGTAAAATGAACTTCTCATAAAATAGTCCCATCATATGGACATCAAATATAGCAATATTGGAAAGT... | benign | 281,354 |
Is the genetic change at chromosome 17, position 61849272, within gene BRIP1 (BRCA1 interacting DNA helicase 1) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTATCTTTAATTAGTGATGTATCAAAATTAGAGTATTGTAAAATGAACTTCTCATAAAATAGTCCCATCATATGGACATCAAATATAGCAATATTGGAAAGT... | TAAACACAGAACCAAAATGAAGTTTAAGGTGAACTAGAAGTTTAACTGGCTAGTTGTTCTCAAAGGCCAAAACAGCTCTATGTATTTTTTTCCTGCATCCAAAAAAAGACTATTTCTAACAGGCAATAATAAAAGAAATTTTAAAAATGCAAATAAGCACCTCATTACAACACTTAAAGGAAATAGAACATAGTAGTGACTCATGAATCTTAGCCAAACTATCTTTAATTAGTGATGTATCAAAATTAGAGTATTGTAAAATGAACTTCTCATAAAATAGTCCCATCATATGGACATCAAATATAGCAATATTGGAAAGT... | benign | 281,355 |
Mutation at chromosome 17, position 61857080, within BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TGAATCCATTTATATAAACTATAGAAAATGCAAACTAATCTATAGTAACAAAAATCAGACAGGTGGTTGGTTGGGGAGGTGAGTCATGTAGGGGTGGGAAAGAGGGATAACAAAAGTCCATGAGAAAACTTTTTGGGAAAGTGAGCATGTTTAAAAAGTTTTGGATAAAGTGAATATGGGGTTGGTGTGTATGTTCACTGTCTTGATTCTGGTGAAAGTTTCATGGAGGTACATATGTCAAAATGTATCAAAGTGTACCATTTAGGCTGGGCGTGGTCGCTCACGCCTATAATCCCAGGACTCTGGGAGGCCGAGGCAGG... | TGAATCCATTTATATAAACTATAGAAAATGCAAACTAATCTATAGTAACAAAAATCAGACAGGTGGTTGGTTGGGGAGGTGAGTCATGTAGGGGTGGGAAAGAGGGATAACAAAAGTCCATGAGAAAACTTTTTGGGAAAGTGAGCATGTTTAAAAAGTTTTGGATAAAGTGAATATGGGGTTGGTGTGTATGTTCACTGTCTTGATTCTGGTGAAAGTTTCATGGAGGTACATATGTCAAAATGTATCAAAGTGTACCATTTAGGCTGGGCGTGGTCGCTCACGCCTATAATCCCAGGACTCTGGGAGGCCGAGGCAGG... | pathogenic | 281,375 |
Gene BRIP1 (BRCA1 interacting DNA helicase 1) variant at chromosome 17, position 61857099—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TATAGAAAATGCAAACTAATCTATAGTAACAAAAATCAGACAGGTGGTTGGTTGGGGAGGTGAGTCATGTAGGGGTGGGAAAGAGGGATAACAAAAGTCCATGAGAAAACTTTTTGGGAAAGTGAGCATGTTTAAAAAGTTTTGGATAAAGTGAATATGGGGTTGGTGTGTATGTTCACTGTCTTGATTCTGGTGAAAGTTTCATGGAGGTACATATGTCAAAATGTATCAAAGTGTACCATTTAGGCTGGGCGTGGTCGCTCACGCCTATAATCCCAGGACTCTGGGAGGCCGAGGCAGGTGAGTAACTTGAGGTCAGG... | TATAGAAAATGCAAACTAATCTATAGTAACAAAAATCAGACAGGTGGTTGGTTGGGGAGGTGAGTCATGTAGGGGTGGGAAAGAGGGATAACAAAAGTCCATGAGAAAACTTTTTGGGAAAGTGAGCATGTTTAAAAAGTTTTGGATAAAGTGAATATGGGGTTGGTGTGTATGTTCACTGTCTTGATTCTGGTGAAAGTTTCATGGAGGTACATATGTCAAAATGTATCAAAGTGTACCATTTAGGCTGGGCGTGGTCGCTCACGCCTATAATCCCAGGACTCTGGGAGGCCGAGGCAGGTGAGTAACTTGAGGTCAGG... | pathogenic | 281,379 |
Clinical significance of chromosome 17, position 61857128, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | CAAAAATCAGACAGGTGGTTGGTTGGGGAGGTGAGTCATGTAGGGGTGGGAAAGAGGGATAACAAAAGTCCATGAGAAAACTTTTTGGGAAAGTGAGCATGTTTAAAAAGTTTTGGATAAAGTGAATATGGGGTTGGTGTGTATGTTCACTGTCTTGATTCTGGTGAAAGTTTCATGGAGGTACATATGTCAAAATGTATCAAAGTGTACCATTTAGGCTGGGCGTGGTCGCTCACGCCTATAATCCCAGGACTCTGGGAGGCCGAGGCAGGTGAGTAACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTA... | CAAAAATCAGACAGGTGGTTGGTTGGGGAGGTGAGTCATGTAGGGGTGGGAAAGAGGGATAACAAAAGTCCATGAGAAAACTTTTTGGGAAAGTGAGCATGTTTAAAAAGTTTTGGATAAAGTGAATATGGGGTTGGTGTGTATGTTCACTGTCTTGATTCTGGTGAAAGTTTCATGGAGGTACATATGTCAAAATGTATCAAAGTGTACCATTTAGGCTGGGCGTGGTCGCTCACGCCTATAATCCCAGGACTCTGGGAGGCCGAGGCAGGTGAGTAACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTA... | pathogenic | 281,388 |
Does the variant impacting BRIP1 (BRCA1 interacting DNA helicase 1) on chromosome 17, position 61857143, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TGGTTGGTTGGGGAGGTGAGTCATGTAGGGGTGGGAAAGAGGGATAACAAAAGTCCATGAGAAAACTTTTTGGGAAAGTGAGCATGTTTAAAAAGTTTTGGATAAAGTGAATATGGGGTTGGTGTGTATGTTCACTGTCTTGATTCTGGTGAAAGTTTCATGGAGGTACATATGTCAAAATGTATCAAAGTGTACCATTTAGGCTGGGCGTGGTCGCTCACGCCTATAATCCCAGGACTCTGGGAGGCCGAGGCAGGTGAGTAACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAATCCTGTCCCTAC... | TGGTTGGTTGGGGAGGTGAGTCATGTAGGGGTGGGAAAGAGGGATAACAAAAGTCCATGAGAAAACTTTTTGGGAAAGTGAGCATGTTTAAAAAGTTTTGGATAAAGTGAATATGGGGTTGGTGTGTATGTTCACTGTCTTGATTCTGGTGAAAGTTTCATGGAGGTACATATGTCAAAATGTATCAAAGTGTACCATTTAGGCTGGGCGTGGTCGCTCACGCCTATAATCCCAGGACTCTGGGAGGCCGAGGCAGGTGAGTAACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAATCCTGTCCCTAC... | pathogenic | 281,393 |
Evaluate the clinical significance of the mutation at chromosome 17, position 61857143 in gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | TGGTTGGTTGGGGAGGTGAGTCATGTAGGGGTGGGAAAGAGGGATAACAAAAGTCCATGAGAAAACTTTTTGGGAAAGTGAGCATGTTTAAAAAGTTTTGGATAAAGTGAATATGGGGTTGGTGTGTATGTTCACTGTCTTGATTCTGGTGAAAGTTTCATGGAGGTACATATGTCAAAATGTATCAAAGTGTACCATTTAGGCTGGGCGTGGTCGCTCACGCCTATAATCCCAGGACTCTGGGAGGCCGAGGCAGGTGAGTAACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAATCCTGTCCCTAC... | TGGTTGGTTGGGGAGGTGAGTCATGTAGGGGTGGGAAAGAGGGATAACAAAAGTCCATGAGAAAACTTTTTGGGAAAGTGAGCATGTTTAAAAAGTTTTGGATAAAGTGAATATGGGGTTGGTGTGTATGTTCACTGTCTTGATTCTGGTGAAAGTTTCATGGAGGTACATATGTCAAAATGTATCAAAGTGTACCATTTAGGCTGGGCGTGGTCGCTCACGCCTATAATCCCAGGACTCTGGGAGGCCGAGGCAGGTGAGTAACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAATCCTGTCCCTAC... | pathogenic | 281,394 |
Variant at chromosome 17, position 61857193, gene BRIP1 (BRCA1 interacting DNA helicase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AAGTCCATGAGAAAACTTTTTGGGAAAGTGAGCATGTTTAAAAAGTTTTGGATAAAGTGAATATGGGGTTGGTGTGTATGTTCACTGTCTTGATTCTGGTGAAAGTTTCATGGAGGTACATATGTCAAAATGTATCAAAGTGTACCATTTAGGCTGGGCGTGGTCGCTCACGCCTATAATCCCAGGACTCTGGGAGGCCGAGGCAGGTGAGTAACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAATCCTGTCCCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTCATCCCA... | AAGTCCATGAGAAAACTTTTTGGGAAAGTGAGCATGTTTAAAAAGTTTTGGATAAAGTGAATATGGGGTTGGTGTGTATGTTCACTGTCTTGATTCTGGTGAAAGTTTCATGGAGGTACATATGTCAAAATGTATCAAAGTGTACCATTTAGGCTGGGCGTGGTCGCTCACGCCTATAATCCCAGGACTCTGGGAGGCCGAGGCAGGTGAGTAACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAATCCTGTCCCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTCATCCCA... | pathogenic | 281,406 |
The chromosome 17, position 61857195 genetic variant in gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GTCCATGAGAAAACTTTTTGGGAAAGTGAGCATGTTTAAAAAGTTTTGGATAAAGTGAATATGGGGTTGGTGTGTATGTTCACTGTCTTGATTCTGGTGAAAGTTTCATGGAGGTACATATGTCAAAATGTATCAAAGTGTACCATTTAGGCTGGGCGTGGTCGCTCACGCCTATAATCCCAGGACTCTGGGAGGCCGAGGCAGGTGAGTAACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAATCCTGTCCCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTCATCCCAAT... | GTCCATGAGAAAACTTTTTGGGAAAGTGAGCATGTTTAAAAAGTTTTGGATAAAGTGAATATGGGGTTGGTGTGTATGTTCACTGTCTTGATTCTGGTGAAAGTTTCATGGAGGTACATATGTCAAAATGTATCAAAGTGTACCATTTAGGCTGGGCGTGGTCGCTCACGCCTATAATCCCAGGACTCTGGGAGGCCGAGGCAGGTGAGTAACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAATCCTGTCCCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTCATCCCAAT... | pathogenic | 281,407 |
Does the chromosome 17 mutation at position 61857226 within gene BRIP1 (BRCA1 interacting DNA helicase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | ATGTTTAAAAAGTTTTGGATAAAGTGAATATGGGGTTGGTGTGTATGTTCACTGTCTTGATTCTGGTGAAAGTTTCATGGAGGTACATATGTCAAAATGTATCAAAGTGTACCATTTAGGCTGGGCGTGGTCGCTCACGCCTATAATCCCAGGACTCTGGGAGGCCGAGGCAGGTGAGTAACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAATCCTGTCCCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTCATCCCAATTACTTGGGAGGCTGAGGCAGGATAATTGCTC... | ATGTTTAAAAAGTTTTGGATAAAGTGAATATGGGGTTGGTGTGTATGTTCACTGTCTTGATTCTGGTGAAAGTTTCATGGAGGTACATATGTCAAAATGTATCAAAGTGTACCATTTAGGCTGGGCGTGGTCGCTCACGCCTATAATCCCAGGACTCTGGGAGGCCGAGGCAGGTGAGTAACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAATCCTGTCCCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTCATCCCAATTACTTGGGAGGCTGAGGCAGGATAATTGCTC... | pathogenic | 281,415 |
Gene BRIP1 (BRCA1 interacting DNA helicase 1) variant at chromosome 17, position 61859794—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | ATAGGGAAATTATCACCCATTTATGTAATCTGTAAAAATCTAATAATCTAAGATTAATAATGTAATAAAAGTACAACTACTCAAGTATTCATTTATATTAAGATTTATCTAAAATTCAAGAATGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTC... | ATAGGGAAATTATCACCCATTTATGTAATCTGTAAAAATCTAATAATCTAAGATTAATAATGTAATAAAAGTACAACTACTCAAGTATTCATTTATATTAAGATTTATCTAAAATTCAAGAATGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTC... | pathogenic | 281,433 |
For chromosome 17, position 61859795, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TAGGGAAATTATCACCCATTTATGTAATCTGTAAAAATCTAATAATCTAAGATTAATAATGTAATAAAAGTACAACTACTCAAGTATTCATTTATATTAAGATTTATCTAAAATTCAAGAATGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTCA... | TAGGGAAATTATCACCCATTTATGTAATCTGTAAAAATCTAATAATCTAAGATTAATAATGTAATAAAAGTACAACTACTCAAGTATTCATTTATATTAAGATTTATCTAAAATTCAAGAATGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTCA... | pathogenic | 281,434 |
For chromosome 17, position 61859799, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | GAAATTATCACCCATTTATGTAATCTGTAAAAATCTAATAATCTAAGATTAATAATGTAATAAAAGTACAACTACTCAAGTATTCATTTATATTAAGATTTATCTAAAATTCAAGAATGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTCAATAT... | GAAATTATCACCCATTTATGTAATCTGTAAAAATCTAATAATCTAAGATTAATAATGTAATAAAAGTACAACTACTCAAGTATTCATTTATATTAAGATTTATCTAAAATTCAAGAATGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTCAATAT... | pathogenic | 281,435 |
A genetic variant on chromosome 17, position 61859805, affects the gene BRIP1 (BRCA1 interacting DNA helicase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ATCACCCATTTATGTAATCTGTAAAAATCTAATAATCTAAGATTAATAATGTAATAAAAGTACAACTACTCAAGTATTCATTTATATTAAGATTTATCTAAAATTCAAGAATGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTCAATATTCAAAT... | ATCACCCATTTATGTAATCTGTAAAAATCTAATAATCTAAGATTAATAATGTAATAAAAGTACAACTACTCAAGTATTCATTTATATTAAGATTTATCTAAAATTCAAGAATGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTCAATATTCAAAT... | pathogenic | 281,437 |
The mutation in gene BRIP1 (BRCA1 interacting DNA helicase 1) at chromosome 17, position 61859810—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast'] | CCATTTATGTAATCTGTAAAAATCTAATAATCTAAGATTAATAATGTAATAAAAGTACAACTACTCAAGTATTCATTTATATTAAGATTTATCTAAAATTCAAGAATGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTCAATATTCAAATCAATA... | CCATTTATGTAATCTGTAAAAATCTAATAATCTAAGATTAATAATGTAATAAAAGTACAACTACTCAAGTATTCATTTATATTAAGATTTATCTAAAATTCAAGAATGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTCAATATTCAAATCAATA... | pathogenic | 281,441 |
Evaluate if the mutation on chromosome 17 at position 61859829 in BRIP1 (BRCA1 interacting DNA helicase 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AAATCTAATAATCTAAGATTAATAATGTAATAAAAGTACAACTACTCAAGTATTCATTTATATTAAGATTTATCTAAAATTCAAGAATGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTCAATATTCAAATCAATAAAATAGGTAATTTTAGTGC... | AAATCTAATAATCTAAGATTAATAATGTAATAAAAGTACAACTACTCAAGTATTCATTTATATTAAGATTTATCTAAAATTCAAGAATGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTCAATATTCAAATCAATAAAATAGGTAATTTTAGTGC... | pathogenic | 281,447 |
Does the variant impacting BRIP1 (BRCA1 interacting DNA helicase 1) on chromosome 17, position 61859859, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TAAAAGTACAACTACTCAAGTATTCATTTATATTAAGATTTATCTAAAATTCAAGAATGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTCAATATTCAAATCAATAAAATAGGTAATTTTAGTGCTAAATATAATACCAAATTGTAATAAGTTTA... | TAAAAGTACAACTACTCAAGTATTCATTTATATTAAGATTTATCTAAAATTCAAGAATGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTCAATATTCAAATCAATAAAATAGGTAATTTTAGTGCTAAATATAATACCAAATTGTAATAAGTTTA... | pathogenic | 281,456 |
Variant chromosome 17, position 61859869, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? Disease(s)? | pathogenic; ['Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | ACTACTCAAGTATTCATTTATATTAAGATTTATCTAAAATTCAAGAATGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTCAATATTCAAATCAATAAAATAGGTAATTTTAGTGCTAAATATAATACCAAATTGTAATAAGTTTACATTGTGTGC... | ACTACTCAAGTATTCATTTATATTAAGATTTATCTAAAATTCAAGAATGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTCAATATTCAAATCAATAAAATAGGTAATTTTAGTGCTAAATATAATACCAAATTGTAATAAGTTTACATTGTGTGC... | pathogenic | 281,459 |
The mutation in gene BRIP1 (BRCA1 interacting DNA helicase 1) at chromosome 17, position 61859872—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | ACTCAAGTATTCATTTATATTAAGATTTATCTAAAATTCAAGAATGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTCAATATTCAAATCAATAAAATAGGTAATTTTAGTGCTAAATATAATACCAAATTGTAATAAGTTTACATTGTGTGCCTA... | ACTCAAGTATTCATTTATATTAAGATTTATCTAAAATTCAAGAATGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTCAATATTCAAATCAATAAAATAGGTAATTTTAGTGCTAAATATAATACCAAATTGTAATAAGTTTACATTGTGTGCCTA... | pathogenic | 281,461 |
Does the chromosome 17 mutation at position 61859888 within gene BRIP1 (BRCA1 interacting DNA helicase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | ATATTAAGATTTATCTAAAATTCAAGAATGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTCAATATTCAAATCAATAAAATAGGTAATTTTAGTGCTAAATATAATACCAAATTGTAATAAGTTTACATTGTGTGCCTACATTGTATACAAATGT... | ATATTAAGATTTATCTAAAATTCAAGAATGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTCAATATTCAAATCAATAAAATAGGTAATTTTAGTGCTAAATATAATACCAAATTGTAATAAGTTTACATTGTGTGCCTACATTGTATACAAATGT... | pathogenic | 281,467 |
The mutation in gene BRIP1 (BRCA1 interacting DNA helicase 1) at chromosome 17, position 61859904—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AAAATTCAAGAATGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTCAATATTCAAATCAATAAAATAGGTAATTTTAGTGCTAAATATAATACCAAATTGTAATAAGTTTACATTGTGTGCCTACATTGTATACAAATGTACAATTCATATACCCC... | AAAATTCAAGAATGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTCAATATTCAAATCAATAAAATAGGTAATTTTAGTGCTAAATATAATACCAAATTGTAATAAGTTTACATTGTGTGCCTACATTGTATACAAATGTACAATTCATATACCCC... | pathogenic | 281,473 |
The genetic variant at chromosome 17, position 61859916, affecting gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? Disease name(s) if pathogenic? | benign | TGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTCAATATTCAAATCAATAAAATAGGTAATTTTAGTGCTAAATATAATACCAAATTGTAATAAGTTTACATTGTGTGCCTACATTGTATACAAATGTACAATTCATATACCCCCAAAAAAGCTAA... | TGGATTGAAACAAGGACATAAAGTATATCCTTAATTACTACTCTTTCCCTAAATGAAGAATTTGAAAGTTCAATATATTAGATAATAATCTAACACATAAGGGTTAAATCATTCCCCCAATTATACTTCTATTTCAAATAGAAACATGTTTTTTGATGTATTAATTCTGATACTTGCATCAAAATACATTTTAAGGTCAATATTCAAATCAATAAAATAGGTAATTTTAGTGCTAAATATAATACCAAATTGTAATAAGTTTACATTGTGTGCCTACATTGTATACAAATGTACAATTCATATACCCCCAAAAAAGCTAA... | benign | 281,479 |
Variant at chromosome 17, position 61861432, gene BRIP1 (BRCA1 interacting DNA helicase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | CTGGAGTGCACAATCACAGCTCTCTGCAACCTCGACCTCCTGGGCTCAAGCGATCCTACCACCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCG... | CTGGAGTGCACAATCACAGCTCTCTGCAACCTCGACCTCCTGGGCTCAAGCGATCCTACCACCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCG... | pathogenic | 281,484 |
Considering the variant on chromosome 17, location 61861434, involving gene BRIP1 (BRCA1 interacting DNA helicase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | GGAGTGCACAATCACAGCTCTCTGCAACCTCGACCTCCTGGGCTCAAGCGATCCTACCACCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGAC... | GGAGTGCACAATCACAGCTCTCTGCAACCTCGACCTCCTGGGCTCAAGCGATCCTACCACCTCAGTCTCCCAAGTAGCTGGGACTACAAGTGTACATCACCATGCCTGGCTAATTGATTGTCAATTTTTGTAGAGATGGGGTATCACCATGCTGCCCAGGCTGCCAAGTCTTTATGTACTTTCCGACTCATCAAAAGACTAAATTATGTTCAATACTATTTTAGCATTAATTAAACATATTTTGCTATATTGAAACTCTTTTGGAAGATTTATAACTTATTTCAAAGAAACATCTTTAAACAAATATTTAAGTTAGCGAC... | benign | 281,485 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.