question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
A genetic alteration at chromosome 17, position 31349205, in gene NF1 (neurofibromin 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Neurofibromatosis,_type_1'] | CATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTAGATACTAATATTTTGTCATTCATTATAA... | CATTTGGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTAGATACTAATATTTTGTCATTCATTATAA... | pathogenic | 269,167 |
Is chromosome 17, position 31349210, gene NF1 (neurofibromin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Neurofibromatosis,_type_1'] | GGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTAGATACTAATATTTTGTCATTCATTATAACATAT... | GGAATTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTAGATACTAATATTTTGTCATTCATTATAACATAT... | pathogenic | 269,168 |
Variant at chromosome 17, position 31349214, gene NF1 (neurofibromin 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTAGATACTAATATTTTGTCATTCATTATAACATATCGAT... | TTACTGGACTAATTGAATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTAGATACTAATATTTTGTCATTCATTATAACATATCGAT... | pathogenic | 269,171 |
Variant on chromosome 17, at position 31349230, affecting NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | ATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTAGATACTAATATTTTGTCATTCATTATAACATATCGATAAACCATTTGTTAAAA... | ATAGTTAAGGTTTCTATTCGGGACAATAAAATGTATTTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTAGATACTAATATTTTGTCATTCATTATAACATATCGATAAACCATTTGTTAAAA... | pathogenic | 269,175 |
Does the genetic variant at chromosome 17, position 31349266, impacting gene NF1 (neurofibromin 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTAGATACTAATATTTTGTCATTCATTATAACATATCGATAAACCATTTGTTAAAAGATTTGCCTGGTTTCCAGACTTGGTGGCCACCTTGA... | TTTGAAAGTGCTGCTAACTATTGATGCTGACAGTGTTTCACTCCTATGAGTGACCCAAACATATTATAAATATGTGGTAAAGGGAATGGAGCCTGTGGGGTTGAGCAGAATGTTGTACTAGCTGTGCCTGGACTGAGTATAACAGCTTTATGATTATGAGAAAACAAATTCTTTATTTTTTTTTCTGTTCCAAAGATTCATCCTATGGGGTGGCCATAAAGTCTAGAATTAGATACTAATATTTTGTCATTCATTATAACATATCGATAAACCATTTGTTAAAAGATTTGCCTGGTTTCCAGACTTGGTGGCCACCTTGA... | benign | 269,183 |
Clinical significance of chromosome 17, position 31350190, gene NF1 (neurofibromin 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | AAGGAAAATTGCACAATTTAGAGTAGTTATGCCATAGAGAAAATTTCCACAAACTAGGAAATGTAGAGAGTTATTCTATAGAATACTCAAAAGAGGAAAGTATGTGATTTTTGGAAACAGGAAAATCTTCAAACTTCTTTCTTCACTTCCCTTTGTGTTTAGCTGACCCTCCAATGTGATCATTGCCTTTGGAGTTTGGGAGAGGTACGGGAAGTGGCCTGATCCCTGCTTCCATACTTCACTCCTCCATCCATCCTTCCCTCCCTCTTCCCCTCCAGCTAAATGGACAATTCTAGCCAACATTGAGTCACTCAATAAGT... | AAGGAAAATTGCACAATTTAGAGTAGTTATGCCATAGAGAAAATTTCCACAAACTAGGAAATGTAGAGAGTTATTCTATAGAATACTCAAAAGAGGAAAGTATGTGATTTTTGGAAACAGGAAAATCTTCAAACTTCTTTCTTCACTTCCCTTTGTGTTTAGCTGACCCTCCAATGTGATCATTGCCTTTGGAGTTTGGGAGAGGTACGGGAAGTGGCCTGATCCCTGCTTCCATACTTCACTCCTCCATCCATCCTTCCCTCCCTCTTCCCCTCCAGCTAAATGGACAATTCTAGCCAACATTGAGTCACTCAATAAGT... | pathogenic | 269,193 |
The chromosome 17, position 31350190 genetic variant in gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | AAGGAAAATTGCACAATTTAGAGTAGTTATGCCATAGAGAAAATTTCCACAAACTAGGAAATGTAGAGAGTTATTCTATAGAATACTCAAAAGAGGAAAGTATGTGATTTTTGGAAACAGGAAAATCTTCAAACTTCTTTCTTCACTTCCCTTTGTGTTTAGCTGACCCTCCAATGTGATCATTGCCTTTGGAGTTTGGGAGAGGTACGGGAAGTGGCCTGATCCCTGCTTCCATACTTCACTCCTCCATCCATCCTTCCCTCCCTCTTCCCCTCCAGCTAAATGGACAATTCTAGCCAACATTGAGTCACTCAATAAGT... | AAGGAAAATTGCACAATTTAGAGTAGTTATGCCATAGAGAAAATTTCCACAAACTAGGAAATGTAGAGAGTTATTCTATAGAATACTCAAAAGAGGAAAGTATGTGATTTTTGGAAACAGGAAAATCTTCAAACTTCTTTCTTCACTTCCCTTTGTGTTTAGCTGACCCTCCAATGTGATCATTGCCTTTGGAGTTTGGGAGAGGTACGGGAAGTGGCCTGATCCCTGCTTCCATACTTCACTCCTCCATCCATCCTTCCCTCCCTCTTCCCCTCCAGCTAAATGGACAATTCTAGCCAACATTGAGTCACTCAATAAGT... | pathogenic | 269,194 |
Is the genetic mutation found on chromosome 17 at position 31350225, within the gene NF1 (neurofibromin 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | AGAGAAAATTTCCACAAACTAGGAAATGTAGAGAGTTATTCTATAGAATACTCAAAAGAGGAAAGTATGTGATTTTTGGAAACAGGAAAATCTTCAAACTTCTTTCTTCACTTCCCTTTGTGTTTAGCTGACCCTCCAATGTGATCATTGCCTTTGGAGTTTGGGAGAGGTACGGGAAGTGGCCTGATCCCTGCTTCCATACTTCACTCCTCCATCCATCCTTCCCTCCCTCTTCCCCTCCAGCTAAATGGACAATTCTAGCCAACATTGAGTCACTCAATAAGTCTCAACAGTGGGTGTGTTTGCTGAGATTGTCCAGC... | AGAGAAAATTTCCACAAACTAGGAAATGTAGAGAGTTATTCTATAGAATACTCAAAAGAGGAAAGTATGTGATTTTTGGAAACAGGAAAATCTTCAAACTTCTTTCTTCACTTCCCTTTGTGTTTAGCTGACCCTCCAATGTGATCATTGCCTTTGGAGTTTGGGAGAGGTACGGGAAGTGGCCTGATCCCTGCTTCCATACTTCACTCCTCCATCCATCCTTCCCTCCCTCTTCCCCTCCAGCTAAATGGACAATTCTAGCCAACATTGAGTCACTCAATAAGTCTCAACAGTGGGTGTGTTTGCTGAGATTGTCCAGC... | pathogenic | 269,202 |
Variant chromosome 17, position 31350230, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Neurofibromatosis,_type_1'] | AAATTTCCACAAACTAGGAAATGTAGAGAGTTATTCTATAGAATACTCAAAAGAGGAAAGTATGTGATTTTTGGAAACAGGAAAATCTTCAAACTTCTTTCTTCACTTCCCTTTGTGTTTAGCTGACCCTCCAATGTGATCATTGCCTTTGGAGTTTGGGAGAGGTACGGGAAGTGGCCTGATCCCTGCTTCCATACTTCACTCCTCCATCCATCCTTCCCTCCCTCTTCCCCTCCAGCTAAATGGACAATTCTAGCCAACATTGAGTCACTCAATAAGTCTCAACAGTGGGTGTGTTTGCTGAGATTGTCCAGCAGTTG... | AAATTTCCACAAACTAGGAAATGTAGAGAGTTATTCTATAGAATACTCAAAAGAGGAAAGTATGTGATTTTTGGAAACAGGAAAATCTTCAAACTTCTTTCTTCACTTCCCTTTGTGTTTAGCTGACCCTCCAATGTGATCATTGCCTTTGGAGTTTGGGAGAGGTACGGGAAGTGGCCTGATCCCTGCTTCCATACTTCACTCCTCCATCCATCCTTCCCTCCCTCTTCCCCTCCAGCTAAATGGACAATTCTAGCCAACATTGAGTCACTCAATAAGTCTCAACAGTGGGTGTGTTTGCTGAGATTGTCCAGCAGTTG... | pathogenic | 269,204 |
Mutation at chromosome 17, position 31350248, within NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AAATGTAGAGAGTTATTCTATAGAATACTCAAAAGAGGAAAGTATGTGATTTTTGGAAACAGGAAAATCTTCAAACTTCTTTCTTCACTTCCCTTTGTGTTTAGCTGACCCTCCAATGTGATCATTGCCTTTGGAGTTTGGGAGAGGTACGGGAAGTGGCCTGATCCCTGCTTCCATACTTCACTCCTCCATCCATCCTTCCCTCCCTCTTCCCCTCCAGCTAAATGGACAATTCTAGCCAACATTGAGTCACTCAATAAGTCTCAACAGTGGGTGTGTTTGCTGAGATTGTCCAGCAGTTGAGCAGTTTGGTCTCACCT... | AAATGTAGAGAGTTATTCTATAGAATACTCAAAAGAGGAAAGTATGTGATTTTTGGAAACAGGAAAATCTTCAAACTTCTTTCTTCACTTCCCTTTGTGTTTAGCTGACCCTCCAATGTGATCATTGCCTTTGGAGTTTGGGAGAGGTACGGGAAGTGGCCTGATCCCTGCTTCCATACTTCACTCCTCCATCCATCCTTCCCTCCCTCTTCCCCTCCAGCTAAATGGACAATTCTAGCCAACATTGAGTCACTCAATAAGTCTCAACAGTGGGTGTGTTTGCTGAGATTGTCCAGCAGTTGAGCAGTTTGGTCTCACCT... | pathogenic | 269,207 |
Chromosome 17, position 31350252, gene NF1 (neurofibromin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GTAGAGAGTTATTCTATAGAATACTCAAAAGAGGAAAGTATGTGATTTTTGGAAACAGGAAAATCTTCAAACTTCTTTCTTCACTTCCCTTTGTGTTTAGCTGACCCTCCAATGTGATCATTGCCTTTGGAGTTTGGGAGAGGTACGGGAAGTGGCCTGATCCCTGCTTCCATACTTCACTCCTCCATCCATCCTTCCCTCCCTCTTCCCCTCCAGCTAAATGGACAATTCTAGCCAACATTGAGTCACTCAATAAGTCTCAACAGTGGGTGTGTTTGCTGAGATTGTCCAGCAGTTGAGCAGTTTGGTCTCACCTCCCT... | GTAGAGAGTTATTCTATAGAATACTCAAAAGAGGAAAGTATGTGATTTTTGGAAACAGGAAAATCTTCAAACTTCTTTCTTCACTTCCCTTTGTGTTTAGCTGACCCTCCAATGTGATCATTGCCTTTGGAGTTTGGGAGAGGTACGGGAAGTGGCCTGATCCCTGCTTCCATACTTCACTCCTCCATCCATCCTTCCCTCCCTCTTCCCCTCCAGCTAAATGGACAATTCTAGCCAACATTGAGTCACTCAATAAGTCTCAACAGTGGGTGTGTTTGCTGAGATTGTCCAGCAGTTGAGCAGTTTGGTCTCACCTCCCT... | pathogenic | 269,209 |
A genetic variant on chromosome 17, position 31350301, affects the gene NF1 (neurofibromin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TGGAAACAGGAAAATCTTCAAACTTCTTTCTTCACTTCCCTTTGTGTTTAGCTGACCCTCCAATGTGATCATTGCCTTTGGAGTTTGGGAGAGGTACGGGAAGTGGCCTGATCCCTGCTTCCATACTTCACTCCTCCATCCATCCTTCCCTCCCTCTTCCCCTCCAGCTAAATGGACAATTCTAGCCAACATTGAGTCACTCAATAAGTCTCAACAGTGGGTGTGTTTGCTGAGATTGTCCAGCAGTTGAGCAGTTTGGTCTCACCTCCCTCGCTAGTTGAGACCAAAAAGAGACAAATAACTTTTTCATGGTCTTTGAA... | TGGAAACAGGAAAATCTTCAAACTTCTTTCTTCACTTCCCTTTGTGTTTAGCTGACCCTCCAATGTGATCATTGCCTTTGGAGTTTGGGAGAGGTACGGGAAGTGGCCTGATCCCTGCTTCCATACTTCACTCCTCCATCCATCCTTCCCTCCCTCTTCCCCTCCAGCTAAATGGACAATTCTAGCCAACATTGAGTCACTCAATAAGTCTCAACAGTGGGTGTGTTTGCTGAGATTGTCCAGCAGTTGAGCAGTTTGGTCTCACCTCCCTCGCTAGTTGAGACCAAAAAGAGACAAATAACTTTTTCATGGTCTTTGAA... | pathogenic | 269,215 |
A mutation at chromosome position 31350307 on chromosome 17 in gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | CAGGAAAATCTTCAAACTTCTTTCTTCACTTCCCTTTGTGTTTAGCTGACCCTCCAATGTGATCATTGCCTTTGGAGTTTGGGAGAGGTACGGGAAGTGGCCTGATCCCTGCTTCCATACTTCACTCCTCCATCCATCCTTCCCTCCCTCTTCCCCTCCAGCTAAATGGACAATTCTAGCCAACATTGAGTCACTCAATAAGTCTCAACAGTGGGTGTGTTTGCTGAGATTGTCCAGCAGTTGAGCAGTTTGGTCTCACCTCCCTCGCTAGTTGAGACCAAAAAGAGACAAATAACTTTTTCATGGTCTTTGAAACATAA... | CAGGAAAATCTTCAAACTTCTTTCTTCACTTCCCTTTGTGTTTAGCTGACCCTCCAATGTGATCATTGCCTTTGGAGTTTGGGAGAGGTACGGGAAGTGGCCTGATCCCTGCTTCCATACTTCACTCCTCCATCCATCCTTCCCTCCCTCTTCCCCTCCAGCTAAATGGACAATTCTAGCCAACATTGAGTCACTCAATAAGTCTCAACAGTGGGTGTGTTTGCTGAGATTGTCCAGCAGTTGAGCAGTTTGGTCTCACCTCCCTCGCTAGTTGAGACCAAAAAGAGACAAATAACTTTTTCATGGTCTTTGAAACATAA... | pathogenic | 269,217 |
For chromosome 17, position 31350313, gene NF1 (neurofibromin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Neurofibromatosis,_type_1'] | AATCTTCAAACTTCTTTCTTCACTTCCCTTTGTGTTTAGCTGACCCTCCAATGTGATCATTGCCTTTGGAGTTTGGGAGAGGTACGGGAAGTGGCCTGATCCCTGCTTCCATACTTCACTCCTCCATCCATCCTTCCCTCCCTCTTCCCCTCCAGCTAAATGGACAATTCTAGCCAACATTGAGTCACTCAATAAGTCTCAACAGTGGGTGTGTTTGCTGAGATTGTCCAGCAGTTGAGCAGTTTGGTCTCACCTCCCTCGCTAGTTGAGACCAAAAAGAGACAAATAACTTTTTCATGGTCTTTGAAACATAATGCTTA... | AATCTTCAAACTTCTTTCTTCACTTCCCTTTGTGTTTAGCTGACCCTCCAATGTGATCATTGCCTTTGGAGTTTGGGAGAGGTACGGGAAGTGGCCTGATCCCTGCTTCCATACTTCACTCCTCCATCCATCCTTCCCTCCCTCTTCCCCTCCAGCTAAATGGACAATTCTAGCCAACATTGAGTCACTCAATAAGTCTCAACAGTGGGTGTGTTTGCTGAGATTGTCCAGCAGTTGAGCAGTTTGGTCTCACCTCCCTCGCTAGTTGAGACCAAAAAGAGACAAATAACTTTTTCATGGTCTTTGAAACATAATGCTTA... | pathogenic | 269,220 |
Is chromosome 17, position 31350313, gene NF1 (neurofibromin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AATCTTCAAACTTCTTTCTTCACTTCCCTTTGTGTTTAGCTGACCCTCCAATGTGATCATTGCCTTTGGAGTTTGGGAGAGGTACGGGAAGTGGCCTGATCCCTGCTTCCATACTTCACTCCTCCATCCATCCTTCCCTCCCTCTTCCCCTCCAGCTAAATGGACAATTCTAGCCAACATTGAGTCACTCAATAAGTCTCAACAGTGGGTGTGTTTGCTGAGATTGTCCAGCAGTTGAGCAGTTTGGTCTCACCTCCCTCGCTAGTTGAGACCAAAAAGAGACAAATAACTTTTTCATGGTCTTTGAAACATAATGCTTA... | AATCTTCAAACTTCTTTCTTCACTTCCCTTTGTGTTTAGCTGACCCTCCAATGTGATCATTGCCTTTGGAGTTTGGGAGAGGTACGGGAAGTGGCCTGATCCCTGCTTCCATACTTCACTCCTCCATCCATCCTTCCCTCCCTCTTCCCCTCCAGCTAAATGGACAATTCTAGCCAACATTGAGTCACTCAATAAGTCTCAACAGTGGGTGTGTTTGCTGAGATTGTCCAGCAGTTGAGCAGTTTGGTCTCACCTCCCTCGCTAGTTGAGACCAAAAAGAGACAAATAACTTTTTCATGGTCTTTGAAACATAATGCTTA... | pathogenic | 269,221 |
Determine whether the variant at chromosome 17, position 31352293, in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | CTTCTTACTGATATTTCAATGGAAAATGTTCCTATGGATACATATCCCATTCATCATGGTGACCCTTCCTATAGGTAAGTGGATTTACTCTCCTATAATTACATAATCATAATCAAGTTTCAATTTTCCAACTAATGGAGGCAAGCAGCAGAGTAATCTAGAAGGTAACATGGGAGAAATCTAGAGATGGCCTAGGAAGAGTAAGTGAAACTCATTTTATAAATGTGTGGTATTTTATGTGGGTTAGTAGGAAAGTTATTCTTCCAGTCTGATTGTGCTAATGTTAACATTAGTTTGCCTCTGAAGCACAGACCAAATGA... | CTTCTTACTGATATTTCAATGGAAAATGTTCCTATGGATACATATCCCATTCATCATGGTGACCCTTCCTATAGGTAAGTGGATTTACTCTCCTATAATTACATAATCATAATCAAGTTTCAATTTTCCAACTAATGGAGGCAAGCAGCAGAGTAATCTAGAAGGTAACATGGGAGAAATCTAGAGATGGCCTAGGAAGAGTAAGTGAAACTCATTTTATAAATGTGTGGTATTTTATGTGGGTTAGTAGGAAAGTTATTCTTCCAGTCTGATTGTGCTAATGTTAACATTAGTTTGCCTCTGAAGCACAGACCAAATGA... | pathogenic | 269,238 |
Is the chromosome 17, position 31352325 variant in NF1 (neurofibromin 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TATGGATACATATCCCATTCATCATGGTGACCCTTCCTATAGGTAAGTGGATTTACTCTCCTATAATTACATAATCATAATCAAGTTTCAATTTTCCAACTAATGGAGGCAAGCAGCAGAGTAATCTAGAAGGTAACATGGGAGAAATCTAGAGATGGCCTAGGAAGAGTAAGTGAAACTCATTTTATAAATGTGTGGTATTTTATGTGGGTTAGTAGGAAAGTTATTCTTCCAGTCTGATTGTGCTAATGTTAACATTAGTTTGCCTCTGAAGCACAGACCAAATGAACAATGAAAAGAGATGCTCTTGAAAATATTAG... | TATGGATACATATCCCATTCATCATGGTGACCCTTCCTATAGGTAAGTGGATTTACTCTCCTATAATTACATAATCATAATCAAGTTTCAATTTTCCAACTAATGGAGGCAAGCAGCAGAGTAATCTAGAAGGTAACATGGGAGAAATCTAGAGATGGCCTAGGAAGAGTAAGTGAAACTCATTTTATAAATGTGTGGTATTTTATGTGGGTTAGTAGGAAAGTTATTCTTCCAGTCTGATTGTGCTAATGTTAACATTAGTTTGCCTCTGAAGCACAGACCAAATGAACAATGAAAAGAGATGCTCTTGAAAATATTAG... | pathogenic | 269,244 |
A genetic variant on chromosome 17, position 31352342, affects the gene NF1 (neurofibromin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Neurofibromatosis,_type_1'] | TTCATCATGGTGACCCTTCCTATAGGTAAGTGGATTTACTCTCCTATAATTACATAATCATAATCAAGTTTCAATTTTCCAACTAATGGAGGCAAGCAGCAGAGTAATCTAGAAGGTAACATGGGAGAAATCTAGAGATGGCCTAGGAAGAGTAAGTGAAACTCATTTTATAAATGTGTGGTATTTTATGTGGGTTAGTAGGAAAGTTATTCTTCCAGTCTGATTGTGCTAATGTTAACATTAGTTTGCCTCTGAAGCACAGACCAAATGAACAATGAAAAGAGATGCTCTTGAAAATATTAGGTTGCAGGGGAAGGGCC... | TTCATCATGGTGACCCTTCCTATAGGTAAGTGGATTTACTCTCCTATAATTACATAATCATAATCAAGTTTCAATTTTCCAACTAATGGAGGCAAGCAGCAGAGTAATCTAGAAGGTAACATGGGAGAAATCTAGAGATGGCCTAGGAAGAGTAAGTGAAACTCATTTTATAAATGTGTGGTATTTTATGTGGGTTAGTAGGAAAGTTATTCTTCCAGTCTGATTGTGCTAATGTTAACATTAGTTTGCCTCTGAAGCACAGACCAAATGAACAATGAAAAGAGATGCTCTTGAAAATATTAGGTTGCAGGGGAAGGGCC... | pathogenic | 269,251 |
Benign or pathogenic: chromosome 17, position 31352376, gene NF1 (neurofibromin 1) variant? Disease(s) if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | TTTACTCTCCTATAATTACATAATCATAATCAAGTTTCAATTTTCCAACTAATGGAGGCAAGCAGCAGAGTAATCTAGAAGGTAACATGGGAGAAATCTAGAGATGGCCTAGGAAGAGTAAGTGAAACTCATTTTATAAATGTGTGGTATTTTATGTGGGTTAGTAGGAAAGTTATTCTTCCAGTCTGATTGTGCTAATGTTAACATTAGTTTGCCTCTGAAGCACAGACCAAATGAACAATGAAAAGAGATGCTCTTGAAAATATTAGGTTGCAGGGGAAGGGCCTGGGGAAAAAAACTAACGCGAAATATAAACAACA... | TTTACTCTCCTATAATTACATAATCATAATCAAGTTTCAATTTTCCAACTAATGGAGGCAAGCAGCAGAGTAATCTAGAAGGTAACATGGGAGAAATCTAGAGATGGCCTAGGAAGAGTAAGTGAAACTCATTTTATAAATGTGTGGTATTTTATGTGGGTTAGTAGGAAAGTTATTCTTCCAGTCTGATTGTGCTAATGTTAACATTAGTTTGCCTCTGAAGCACAGACCAAATGAACAATGAAAAGAGATGCTCTTGAAAATATTAGGTTGCAGGGGAAGGGCCTGGGGAAAAAAACTAACGCGAAATATAAACAACA... | pathogenic | 269,256 |
Chromosome 17, position 31352400, gene NF1 (neurofibromin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | CATAATCAAGTTTCAATTTTCCAACTAATGGAGGCAAGCAGCAGAGTAATCTAGAAGGTAACATGGGAGAAATCTAGAGATGGCCTAGGAAGAGTAAGTGAAACTCATTTTATAAATGTGTGGTATTTTATGTGGGTTAGTAGGAAAGTTATTCTTCCAGTCTGATTGTGCTAATGTTAACATTAGTTTGCCTCTGAAGCACAGACCAAATGAACAATGAAAAGAGATGCTCTTGAAAATATTAGGTTGCAGGGGAAGGGCCTGGGGAAAAAAACTAACGCGAAATATAAACAACACATTACGTGCTTGGATAGAGAACG... | CATAATCAAGTTTCAATTTTCCAACTAATGGAGGCAAGCAGCAGAGTAATCTAGAAGGTAACATGGGAGAAATCTAGAGATGGCCTAGGAAGAGTAAGTGAAACTCATTTTATAAATGTGTGGTATTTTATGTGGGTTAGTAGGAAAGTTATTCTTCCAGTCTGATTGTGCTAATGTTAACATTAGTTTGCCTCTGAAGCACAGACCAAATGAACAATGAAAAGAGATGCTCTTGAAAATATTAGGTTGCAGGGGAAGGGCCTGGGGAAAAAAACTAACGCGAAATATAAACAACACATTACGTGCTTGGATAGAGAACG... | pathogenic | 269,262 |
A genetic variant at chromosome 17, position 31352411, affecting gene NF1 (neurofibromin 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | TTCAATTTTCCAACTAATGGAGGCAAGCAGCAGAGTAATCTAGAAGGTAACATGGGAGAAATCTAGAGATGGCCTAGGAAGAGTAAGTGAAACTCATTTTATAAATGTGTGGTATTTTATGTGGGTTAGTAGGAAAGTTATTCTTCCAGTCTGATTGTGCTAATGTTAACATTAGTTTGCCTCTGAAGCACAGACCAAATGAACAATGAAAAGAGATGCTCTTGAAAATATTAGGTTGCAGGGGAAGGGCCTGGGGAAAAAAACTAACGCGAAATATAAACAACACATTACGTGCTTGGATAGAGAACGAATCTATACAG... | TTCAATTTTCCAACTAATGGAGGCAAGCAGCAGAGTAATCTAGAAGGTAACATGGGAGAAATCTAGAGATGGCCTAGGAAGAGTAAGTGAAACTCATTTTATAAATGTGTGGTATTTTATGTGGGTTAGTAGGAAAGTTATTCTTCCAGTCTGATTGTGCTAATGTTAACATTAGTTTGCCTCTGAAGCACAGACCAAATGAACAATGAAAAGAGATGCTCTTGAAAATATTAGGTTGCAGGGGAAGGGCCTGGGGAAAAAAACTAACGCGAAATATAAACAACACATTACGTGCTTGGATAGAGAACGAATCTATACAG... | pathogenic | 269,266 |
Evaluate the clinical significance of the mutation at chromosome 17, position 31356487 in gene NF1 (neurofibromin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | GATGAGAAGAAGGACTAGAACTCGATTGGAAACGACTGTATGCCATGGTAAGATATTTACCCTTATCACACATTCAGCTGAGGTATTTAAGTAGGAGAAGAACATGACCAAATTTTAATTTTTGCCAAGTTTTTCTAGCAGCAATGTGGAGAGACAGGAAGAGATTTTTAGCAAGGGAACCATTTAATAAAATTGATATAGCAGTCCAAGCAAAAAAAATGGTGTGGGCCCCGCACTAATGCAGGAGCAATGGGAGAATGGAGAAGAACCAGCAGGTTTGGAGCTGGGCATAATGGTACACACCTCTAGTCCCAGGAACT... | GATGAGAAGAAGGACTAGAACTCGATTGGAAACGACTGTATGCCATGGTAAGATATTTACCCTTATCACACATTCAGCTGAGGTATTTAAGTAGGAGAAGAACATGACCAAATTTTAATTTTTGCCAAGTTTTTCTAGCAGCAATGTGGAGAGACAGGAAGAGATTTTTAGCAAGGGAACCATTTAATAAAATTGATATAGCAGTCCAAGCAAAAAAAATGGTGTGGGCCCCGCACTAATGCAGGAGCAATGGGAGAATGGAGAAGAACCAGCAGGTTTGGAGCTGGGCATAATGGTACACACCTCTAGTCCCAGGAACT... | pathogenic | 269,277 |
Evaluate if the mutation on chromosome 17 at position 31356490 in NF1 (neurofibromin 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | GAGAAGAAGGACTAGAACTCGATTGGAAACGACTGTATGCCATGGTAAGATATTTACCCTTATCACACATTCAGCTGAGGTATTTAAGTAGGAGAAGAACATGACCAAATTTTAATTTTTGCCAAGTTTTTCTAGCAGCAATGTGGAGAGACAGGAAGAGATTTTTAGCAAGGGAACCATTTAATAAAATTGATATAGCAGTCCAAGCAAAAAAAATGGTGTGGGCCCCGCACTAATGCAGGAGCAATGGGAGAATGGAGAAGAACCAGCAGGTTTGGAGCTGGGCATAATGGTACACACCTCTAGTCCCAGGAACTCAG... | GAGAAGAAGGACTAGAACTCGATTGGAAACGACTGTATGCCATGGTAAGATATTTACCCTTATCACACATTCAGCTGAGGTATTTAAGTAGGAGAAGAACATGACCAAATTTTAATTTTTGCCAAGTTTTTCTAGCAGCAATGTGGAGAGACAGGAAGAGATTTTTAGCAAGGGAACCATTTAATAAAATTGATATAGCAGTCCAAGCAAAAAAAATGGTGTGGGCCCCGCACTAATGCAGGAGCAATGGGAGAATGGAGAAGAACCAGCAGGTTTGGAGCTGGGCATAATGGTACACACCTCTAGTCCCAGGAACTCAG... | pathogenic | 269,279 |
Clinical classification of chromosome 17, position 31356506, gene NF1 (neurofibromin 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Neurofibromatosis,_type_1'] | ACTCGATTGGAAACGACTGTATGCCATGGTAAGATATTTACCCTTATCACACATTCAGCTGAGGTATTTAAGTAGGAGAAGAACATGACCAAATTTTAATTTTTGCCAAGTTTTTCTAGCAGCAATGTGGAGAGACAGGAAGAGATTTTTAGCAAGGGAACCATTTAATAAAATTGATATAGCAGTCCAAGCAAAAAAAATGGTGTGGGCCCCGCACTAATGCAGGAGCAATGGGAGAATGGAGAAGAACCAGCAGGTTTGGAGCTGGGCATAATGGTACACACCTCTAGTCCCAGGAACTCAGGAGGCCAAGGCAGGAG... | ACTCGATTGGAAACGACTGTATGCCATGGTAAGATATTTACCCTTATCACACATTCAGCTGAGGTATTTAAGTAGGAGAAGAACATGACCAAATTTTAATTTTTGCCAAGTTTTTCTAGCAGCAATGTGGAGAGACAGGAAGAGATTTTTAGCAAGGGAACCATTTAATAAAATTGATATAGCAGTCCAAGCAAAAAAAATGGTGTGGGCCCCGCACTAATGCAGGAGCAATGGGAGAATGGAGAAGAACCAGCAGGTTTGGAGCTGGGCATAATGGTACACACCTCTAGTCCCAGGAACTCAGGAGGCCAAGGCAGGAG... | pathogenic | 269,283 |
Does the genetic variant at chromosome 17, position 31356506, impacting gene NF1 (neurofibromin 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ACTCGATTGGAAACGACTGTATGCCATGGTAAGATATTTACCCTTATCACACATTCAGCTGAGGTATTTAAGTAGGAGAAGAACATGACCAAATTTTAATTTTTGCCAAGTTTTTCTAGCAGCAATGTGGAGAGACAGGAAGAGATTTTTAGCAAGGGAACCATTTAATAAAATTGATATAGCAGTCCAAGCAAAAAAAATGGTGTGGGCCCCGCACTAATGCAGGAGCAATGGGAGAATGGAGAAGAACCAGCAGGTTTGGAGCTGGGCATAATGGTACACACCTCTAGTCCCAGGAACTCAGGAGGCCAAGGCAGGAG... | ACTCGATTGGAAACGACTGTATGCCATGGTAAGATATTTACCCTTATCACACATTCAGCTGAGGTATTTAAGTAGGAGAAGAACATGACCAAATTTTAATTTTTGCCAAGTTTTTCTAGCAGCAATGTGGAGAGACAGGAAGAGATTTTTAGCAAGGGAACCATTTAATAAAATTGATATAGCAGTCCAAGCAAAAAAAATGGTGTGGGCCCCGCACTAATGCAGGAGCAATGGGAGAATGGAGAAGAACCAGCAGGTTTGGAGCTGGGCATAATGGTACACACCTCTAGTCCCAGGAACTCAGGAGGCCAAGGCAGGAG... | pathogenic | 269,284 |
Is the chromosome 17, position 31356539 variant in NF1 (neurofibromin 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ATATTTACCCTTATCACACATTCAGCTGAGGTATTTAAGTAGGAGAAGAACATGACCAAATTTTAATTTTTGCCAAGTTTTTCTAGCAGCAATGTGGAGAGACAGGAAGAGATTTTTAGCAAGGGAACCATTTAATAAAATTGATATAGCAGTCCAAGCAAAAAAAATGGTGTGGGCCCCGCACTAATGCAGGAGCAATGGGAGAATGGAGAAGAACCAGCAGGTTTGGAGCTGGGCATAATGGTACACACCTCTAGTCCCAGGAACTCAGGAGGCCAAGGCAGGAGGATTGTTTGAGGCTGACCTGGGCAGCATAGTCA... | ATATTTACCCTTATCACACATTCAGCTGAGGTATTTAAGTAGGAGAAGAACATGACCAAATTTTAATTTTTGCCAAGTTTTTCTAGCAGCAATGTGGAGAGACAGGAAGAGATTTTTAGCAAGGGAACCATTTAATAAAATTGATATAGCAGTCCAAGCAAAAAAAATGGTGTGGGCCCCGCACTAATGCAGGAGCAATGGGAGAATGGAGAAGAACCAGCAGGTTTGGAGCTGGGCATAATGGTACACACCTCTAGTCCCAGGAACTCAGGAGGCCAAGGCAGGAGGATTGTTTGAGGCTGACCTGGGCAGCATAGTCA... | pathogenic | 269,290 |
Determine if the mutation at chromosome 17, position 31356539 in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ATATTTACCCTTATCACACATTCAGCTGAGGTATTTAAGTAGGAGAAGAACATGACCAAATTTTAATTTTTGCCAAGTTTTTCTAGCAGCAATGTGGAGAGACAGGAAGAGATTTTTAGCAAGGGAACCATTTAATAAAATTGATATAGCAGTCCAAGCAAAAAAAATGGTGTGGGCCCCGCACTAATGCAGGAGCAATGGGAGAATGGAGAAGAACCAGCAGGTTTGGAGCTGGGCATAATGGTACACACCTCTAGTCCCAGGAACTCAGGAGGCCAAGGCAGGAGGATTGTTTGAGGCTGACCTGGGCAGCATAGTCA... | ATATTTACCCTTATCACACATTCAGCTGAGGTATTTAAGTAGGAGAAGAACATGACCAAATTTTAATTTTTGCCAAGTTTTTCTAGCAGCAATGTGGAGAGACAGGAAGAGATTTTTAGCAAGGGAACCATTTAATAAAATTGATATAGCAGTCCAAGCAAAAAAAATGGTGTGGGCCCCGCACTAATGCAGGAGCAATGGGAGAATGGAGAAGAACCAGCAGGTTTGGAGCTGGGCATAATGGTACACACCTCTAGTCCCAGGAACTCAGGAGGCCAAGGCAGGAGGATTGTTTGAGGCTGACCTGGGCAGCATAGTCA... | pathogenic | 269,291 |
Does the genetic variant at chromosome 17, position 31356965, impacting gene NF1 (neurofibromin 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Neurofibromatosis,_type_1'] | TGAAGGATGTCAGAAGCTTTTAGTTTTAAAAACTGTCTAGATAGTGATACCATTCATAGAGATCAGGACTAATACGTTCACAGTACATGATAAATTTAGGTTGATTACATTTGATATATTTTCAAGACATCTATGAGTATATATCTAAGAGATAAACCACAAGATGTACCTGGAATTCGGGAAGAAAGTAAACAAGTAAACATTTAGAATTGATTAGCTCACAGATAGTTGAAGCTATGGAAGCAGAATGAGATCTTCCAGGAAGAATGCAGAGAATAAAATAAAAAGGACAAGTGAGAAAGGAAGGAAAACTAAATGTA... | TGAAGGATGTCAGAAGCTTTTAGTTTTAAAAACTGTCTAGATAGTGATACCATTCATAGAGATCAGGACTAATACGTTCACAGTACATGATAAATTTAGGTTGATTACATTTGATATATTTTCAAGACATCTATGAGTATATATCTAAGAGATAAACCACAAGATGTACCTGGAATTCGGGAAGAAAGTAAACAAGTAAACATTTAGAATTGATTAGCTCACAGATAGTTGAAGCTATGGAAGCAGAATGAGATCTTCCAGGAAGAATGCAGAGAATAAAATAAAAAGGACAAGTGAGAAAGGAAGGAAAACTAAATGTA... | pathogenic | 269,303 |
The genetic variant at chromosome 17, position 31356965, affecting gene NF1 (neurofibromin 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TGAAGGATGTCAGAAGCTTTTAGTTTTAAAAACTGTCTAGATAGTGATACCATTCATAGAGATCAGGACTAATACGTTCACAGTACATGATAAATTTAGGTTGATTACATTTGATATATTTTCAAGACATCTATGAGTATATATCTAAGAGATAAACCACAAGATGTACCTGGAATTCGGGAAGAAAGTAAACAAGTAAACATTTAGAATTGATTAGCTCACAGATAGTTGAAGCTATGGAAGCAGAATGAGATCTTCCAGGAAGAATGCAGAGAATAAAATAAAAAGGACAAGTGAGAAAGGAAGGAAAACTAAATGTA... | TGAAGGATGTCAGAAGCTTTTAGTTTTAAAAACTGTCTAGATAGTGATACCATTCATAGAGATCAGGACTAATACGTTCACAGTACATGATAAATTTAGGTTGATTACATTTGATATATTTTCAAGACATCTATGAGTATATATCTAAGAGATAAACCACAAGATGTACCTGGAATTCGGGAAGAAAGTAAACAAGTAAACATTTAGAATTGATTAGCTCACAGATAGTTGAAGCTATGGAAGCAGAATGAGATCTTCCAGGAAGAATGCAGAGAATAAAATAAAAAGGACAAGTGAGAAAGGAAGGAAAACTAAATGTA... | pathogenic | 269,304 |
Benign or pathogenic: chromosome 17, position 31356968, gene NF1 (neurofibromin 1) variant? Disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AGGATGTCAGAAGCTTTTAGTTTTAAAAACTGTCTAGATAGTGATACCATTCATAGAGATCAGGACTAATACGTTCACAGTACATGATAAATTTAGGTTGATTACATTTGATATATTTTCAAGACATCTATGAGTATATATCTAAGAGATAAACCACAAGATGTACCTGGAATTCGGGAAGAAAGTAAACAAGTAAACATTTAGAATTGATTAGCTCACAGATAGTTGAAGCTATGGAAGCAGAATGAGATCTTCCAGGAAGAATGCAGAGAATAAAATAAAAAGGACAAGTGAGAAAGGAAGGAAAACTAAATGTAGAA... | AGGATGTCAGAAGCTTTTAGTTTTAAAAACTGTCTAGATAGTGATACCATTCATAGAGATCAGGACTAATACGTTCACAGTACATGATAAATTTAGGTTGATTACATTTGATATATTTTCAAGACATCTATGAGTATATATCTAAGAGATAAACCACAAGATGTACCTGGAATTCGGGAAGAAAGTAAACAAGTAAACATTTAGAATTGATTAGCTCACAGATAGTTGAAGCTATGGAAGCAGAATGAGATCTTCCAGGAAGAATGCAGAGAATAAAATAAAAAGGACAAGTGAGAAAGGAAGGAAAACTAAATGTAGAA... | pathogenic | 269,305 |
Located at chromosome 17 position 31356996, the variant affecting gene NF1 (neurofibromin 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Neurofibromatosis,_type_1'] | ACTGTCTAGATAGTGATACCATTCATAGAGATCAGGACTAATACGTTCACAGTACATGATAAATTTAGGTTGATTACATTTGATATATTTTCAAGACATCTATGAGTATATATCTAAGAGATAAACCACAAGATGTACCTGGAATTCGGGAAGAAAGTAAACAAGTAAACATTTAGAATTGATTAGCTCACAGATAGTTGAAGCTATGGAAGCAGAATGAGATCTTCCAGGAAGAATGCAGAGAATAAAATAAAAAGGACAAGTGAGAAAGGAAGGAAAACTAAATGTAGAAAGTAGTGTCCCAATCTCATGTACTTTGG... | ACTGTCTAGATAGTGATACCATTCATAGAGATCAGGACTAATACGTTCACAGTACATGATAAATTTAGGTTGATTACATTTGATATATTTTCAAGACATCTATGAGTATATATCTAAGAGATAAACCACAAGATGTACCTGGAATTCGGGAAGAAAGTAAACAAGTAAACATTTAGAATTGATTAGCTCACAGATAGTTGAAGCTATGGAAGCAGAATGAGATCTTCCAGGAAGAATGCAGAGAATAAAATAAAAAGGACAAGTGAGAAAGGAAGGAAAACTAAATGTAGAAAGTAGTGTCCCAATCTCATGTACTTTGG... | pathogenic | 269,316 |
Does the variant impacting NF1 (neurofibromin 1) on chromosome 17, position 31357003, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AGATAGTGATACCATTCATAGAGATCAGGACTAATACGTTCACAGTACATGATAAATTTAGGTTGATTACATTTGATATATTTTCAAGACATCTATGAGTATATATCTAAGAGATAAACCACAAGATGTACCTGGAATTCGGGAAGAAAGTAAACAAGTAAACATTTAGAATTGATTAGCTCACAGATAGTTGAAGCTATGGAAGCAGAATGAGATCTTCCAGGAAGAATGCAGAGAATAAAATAAAAAGGACAAGTGAGAAAGGAAGGAAAACTAAATGTAGAAAGTAGTGTCCCAATCTCATGTACTTTGGAAAGCAC... | AGATAGTGATACCATTCATAGAGATCAGGACTAATACGTTCACAGTACATGATAAATTTAGGTTGATTACATTTGATATATTTTCAAGACATCTATGAGTATATATCTAAGAGATAAACCACAAGATGTACCTGGAATTCGGGAAGAAAGTAAACAAGTAAACATTTAGAATTGATTAGCTCACAGATAGTTGAAGCTATGGAAGCAGAATGAGATCTTCCAGGAAGAATGCAGAGAATAAAATAAAAAGGACAAGTGAGAAAGGAAGGAAAACTAAATGTAGAAAGTAGTGTCCCAATCTCATGTACTTTGGAAAGCAC... | pathogenic | 269,317 |
Assess the variant on chromosome 17, position 31357057, impacting NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AATTTAGGTTGATTACATTTGATATATTTTCAAGACATCTATGAGTATATATCTAAGAGATAAACCACAAGATGTACCTGGAATTCGGGAAGAAAGTAAACAAGTAAACATTTAGAATTGATTAGCTCACAGATAGTTGAAGCTATGGAAGCAGAATGAGATCTTCCAGGAAGAATGCAGAGAATAAAATAAAAAGGACAAGTGAGAAAGGAAGGAAAACTAAATGTAGAAAGTAGTGTCCCAATCTCATGTACTTTGGAAAGCACTGACTGGTTTTAGAAAACCTGAGTTTTCCATCTGGTCATTGTCTAGATCCCTAG... | AATTTAGGTTGATTACATTTGATATATTTTCAAGACATCTATGAGTATATATCTAAGAGATAAACCACAAGATGTACCTGGAATTCGGGAAGAAAGTAAACAAGTAAACATTTAGAATTGATTAGCTCACAGATAGTTGAAGCTATGGAAGCAGAATGAGATCTTCCAGGAAGAATGCAGAGAATAAAATAAAAAGGACAAGTGAGAAAGGAAGGAAAACTAAATGTAGAAAGTAGTGTCCCAATCTCATGTACTTTGGAAAGCACTGACTGGTTTTAGAAAACCTGAGTTTTCCATCTGGTCATTGTCTAGATCCCTAG... | pathogenic | 269,328 |
Is the chromosome 17, position 31357342 variant in NF1 (neurofibromin 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Neurofibromatosis,_type_1'] | TGAGTTTTCCATCTGGTCATTGTCTAGATCCCTAGCCATGCTACCTCAGACTAATTACTTAACTGCTCATGGCTTCATCAGTGTACATGTGCATGAAACGAAGAAGCCGGACTAGATCCCTTTGGACTGTTAAATTATTTGGCCTTGGTATTTATGACTATTATGAATAGTTATTCATATTCTTGAGGTAATAGACTTTGTATTTCTCAAGTGTTAAATTGTCAGATTTTATTATATTGGCTTTAATTCTGGCTTTAATAAAATAATACTGTTGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGGAGA... | TGAGTTTTCCATCTGGTCATTGTCTAGATCCCTAGCCATGCTACCTCAGACTAATTACTTAACTGCTCATGGCTTCATCAGTGTACATGTGCATGAAACGAAGAAGCCGGACTAGATCCCTTTGGACTGTTAAATTATTTGGCCTTGGTATTTATGACTATTATGAATAGTTATTCATATTCTTGAGGTAATAGACTTTGTATTTCTCAAGTGTTAAATTGTCAGATTTTATTATATTGGCTTTAATTCTGGCTTTAATAAAATAATACTGTTGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGGAGA... | pathogenic | 269,356 |
Regarding the variant found on chromosome 17 at position 31357346 in gene NF1 (neurofibromin 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome'] | TTTTCCATCTGGTCATTGTCTAGATCCCTAGCCATGCTACCTCAGACTAATTACTTAACTGCTCATGGCTTCATCAGTGTACATGTGCATGAAACGAAGAAGCCGGACTAGATCCCTTTGGACTGTTAAATTATTTGGCCTTGGTATTTATGACTATTATGAATAGTTATTCATATTCTTGAGGTAATAGACTTTGTATTTCTCAAGTGTTAAATTGTCAGATTTTATTATATTGGCTTTAATTCTGGCTTTAATAAAATAATACTGTTGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGGAGACCAA... | TTTTCCATCTGGTCATTGTCTAGATCCCTAGCCATGCTACCTCAGACTAATTACTTAACTGCTCATGGCTTCATCAGTGTACATGTGCATGAAACGAAGAAGCCGGACTAGATCCCTTTGGACTGTTAAATTATTTGGCCTTGGTATTTATGACTATTATGAATAGTTATTCATATTCTTGAGGTAATAGACTTTGTATTTCTCAAGTGTTAAATTGTCAGATTTTATTATATTGGCTTTAATTCTGGCTTTAATAAAATAATACTGTTGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGGAGACCAA... | pathogenic | 269,357 |
A genetic variant at chromosome 17, position 31357358, affecting gene NF1 (neurofibromin 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TCATTGTCTAGATCCCTAGCCATGCTACCTCAGACTAATTACTTAACTGCTCATGGCTTCATCAGTGTACATGTGCATGAAACGAAGAAGCCGGACTAGATCCCTTTGGACTGTTAAATTATTTGGCCTTGGTATTTATGACTATTATGAATAGTTATTCATATTCTTGAGGTAATAGACTTTGTATTTCTCAAGTGTTAAATTGTCAGATTTTATTATATTGGCTTTAATTCTGGCTTTAATAAAATAATACTGTTGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGGAGACCAAGGCAGGTGGATT... | TCATTGTCTAGATCCCTAGCCATGCTACCTCAGACTAATTACTTAACTGCTCATGGCTTCATCAGTGTACATGTGCATGAAACGAAGAAGCCGGACTAGATCCCTTTGGACTGTTAAATTATTTGGCCTTGGTATTTATGACTATTATGAATAGTTATTCATATTCTTGAGGTAATAGACTTTGTATTTCTCAAGTGTTAAATTGTCAGATTTTATTATATTGGCTTTAATTCTGGCTTTAATAAAATAATACTGTTGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGGAGACCAAGGCAGGTGGATT... | pathogenic | 269,361 |
Variant at chromosome position 31357361, chromosome 17, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Neurofibromatosis,_type_1'] | TTGTCTAGATCCCTAGCCATGCTACCTCAGACTAATTACTTAACTGCTCATGGCTTCATCAGTGTACATGTGCATGAAACGAAGAAGCCGGACTAGATCCCTTTGGACTGTTAAATTATTTGGCCTTGGTATTTATGACTATTATGAATAGTTATTCATATTCTTGAGGTAATAGACTTTGTATTTCTCAAGTGTTAAATTGTCAGATTTTATTATATTGGCTTTAATTCTGGCTTTAATAAAATAATACTGTTGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGGAGACCAAGGCAGGTGGATTGCT... | TTGTCTAGATCCCTAGCCATGCTACCTCAGACTAATTACTTAACTGCTCATGGCTTCATCAGTGTACATGTGCATGAAACGAAGAAGCCGGACTAGATCCCTTTGGACTGTTAAATTATTTGGCCTTGGTATTTATGACTATTATGAATAGTTATTCATATTCTTGAGGTAATAGACTTTGTATTTCTCAAGTGTTAAATTGTCAGATTTTATTATATTGGCTTTAATTCTGGCTTTAATAAAATAATACTGTTGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTCTGGGGAGACCAAGGCAGGTGGATTGCT... | pathogenic | 269,362 |
Chromosome 17, position 31358463, gene NF1 (neurofibromin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ACACTGTAGTTAATGAACTTGCATATTCTTAACTTTTGTTTATAGGAACAAGGAAAAGTTTTGATCACTTGATATCAGACACAAAGGCTCCTAAAAGGCAAGAAATGGAATCAGGGATCACAACACCCCCCAAAATGAGGAGAGTAGCAGAAACTGATTATGAAATGGGTGAGAAACAAAGTATTGATCTAGATCATTGAAAATAAGGTGGGAGAGTACATGAAAGTCATGTTTATTTTCCAGCCATTTCTTAGAATCTTTAGAGTGAAATATAGAAACGTTTGCCATTTCTCAAAAGATAAACTCTACCATTCAAGACA... | ACACTGTAGTTAATGAACTTGCATATTCTTAACTTTTGTTTATAGGAACAAGGAAAAGTTTTGATCACTTGATATCAGACACAAAGGCTCCTAAAAGGCAAGAAATGGAATCAGGGATCACAACACCCCCCAAAATGAGGAGAGTAGCAGAAACTGATTATGAAATGGGTGAGAAACAAAGTATTGATCTAGATCATTGAAAATAAGGTGGGAGAGTACATGAAAGTCATGTTTATTTTCCAGCCATTTCTTAGAATCTTTAGAGTGAAATATAGAAACGTTTGCCATTTCTCAAAAGATAAACTCTACCATTCAAGACA... | benign | 269,375 |
Determine if the mutation at chromosome 17, position 31358463 in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | ACACTGTAGTTAATGAACTTGCATATTCTTAACTTTTGTTTATAGGAACAAGGAAAAGTTTTGATCACTTGATATCAGACACAAAGGCTCCTAAAAGGCAAGAAATGGAATCAGGGATCACAACACCCCCCAAAATGAGGAGAGTAGCAGAAACTGATTATGAAATGGGTGAGAAACAAAGTATTGATCTAGATCATTGAAAATAAGGTGGGAGAGTACATGAAAGTCATGTTTATTTTCCAGCCATTTCTTAGAATCTTTAGAGTGAAATATAGAAACGTTTGCCATTTCTCAAAAGATAAACTCTACCATTCAAGACA... | ACACTGTAGTTAATGAACTTGCATATTCTTAACTTTTGTTTATAGGAACAAGGAAAAGTTTTGATCACTTGATATCAGACACAAAGGCTCCTAAAAGGCAAGAAATGGAATCAGGGATCACAACACCCCCCAAAATGAGGAGAGTAGCAGAAACTGATTATGAAATGGGTGAGAAACAAAGTATTGATCTAGATCATTGAAAATAAGGTGGGAGAGTACATGAAAGTCATGTTTATTTTCCAGCCATTTCTTAGAATCTTTAGAGTGAAATATAGAAACGTTTGCCATTTCTCAAAAGATAAACTCTACCATTCAAGACA... | benign | 269,376 |
Determine whether the variant at chromosome 17, position 31358485, in gene NF1 (neurofibromin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | ATATTCTTAACTTTTGTTTATAGGAACAAGGAAAAGTTTTGATCACTTGATATCAGACACAAAGGCTCCTAAAAGGCAAGAAATGGAATCAGGGATCACAACACCCCCCAAAATGAGGAGAGTAGCAGAAACTGATTATGAAATGGGTGAGAAACAAAGTATTGATCTAGATCATTGAAAATAAGGTGGGAGAGTACATGAAAGTCATGTTTATTTTCCAGCCATTTCTTAGAATCTTTAGAGTGAAATATAGAAACGTTTGCCATTTCTCAAAAGATAAACTCTACCATTCAAGACAGTTATCTTGAAGCTTGTGTAAA... | ATATTCTTAACTTTTGTTTATAGGAACAAGGAAAAGTTTTGATCACTTGATATCAGACACAAAGGCTCCTAAAAGGCAAGAAATGGAATCAGGGATCACAACACCCCCCAAAATGAGGAGAGTAGCAGAAACTGATTATGAAATGGGTGAGAAACAAAGTATTGATCTAGATCATTGAAAATAAGGTGGGAGAGTACATGAAAGTCATGTTTATTTTCCAGCCATTTCTTAGAATCTTTAGAGTGAAATATAGAAACGTTTGCCATTTCTCAAAAGATAAACTCTACCATTCAAGACAGTTATCTTGAAGCTTGTGTAAA... | pathogenic | 269,382 |
Variant at chromosome position 31358497, chromosome 17, gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | TTTGTTTATAGGAACAAGGAAAAGTTTTGATCACTTGATATCAGACACAAAGGCTCCTAAAAGGCAAGAAATGGAATCAGGGATCACAACACCCCCCAAAATGAGGAGAGTAGCAGAAACTGATTATGAAATGGGTGAGAAACAAAGTATTGATCTAGATCATTGAAAATAAGGTGGGAGAGTACATGAAAGTCATGTTTATTTTCCAGCCATTTCTTAGAATCTTTAGAGTGAAATATAGAAACGTTTGCCATTTCTCAAAAGATAAACTCTACCATTCAAGACAGTTATCTTGAAGCTTGTGTAAAAATTAATCATAT... | TTTGTTTATAGGAACAAGGAAAAGTTTTGATCACTTGATATCAGACACAAAGGCTCCTAAAAGGCAAGAAATGGAATCAGGGATCACAACACCCCCCAAAATGAGGAGAGTAGCAGAAACTGATTATGAAATGGGTGAGAAACAAAGTATTGATCTAGATCATTGAAAATAAGGTGGGAGAGTACATGAAAGTCATGTTTATTTTCCAGCCATTTCTTAGAATCTTTAGAGTGAAATATAGAAACGTTTGCCATTTCTCAAAAGATAAACTCTACCATTCAAGACAGTTATCTTGAAGCTTGTGTAAAAATTAATCATAT... | pathogenic | 269,387 |
Is chromosome 17, position 31358565, gene NF1 (neurofibromin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | AAATGGAATCAGGGATCACAACACCCCCCAAAATGAGGAGAGTAGCAGAAACTGATTATGAAATGGGTGAGAAACAAAGTATTGATCTAGATCATTGAAAATAAGGTGGGAGAGTACATGAAAGTCATGTTTATTTTCCAGCCATTTCTTAGAATCTTTAGAGTGAAATATAGAAACGTTTGCCATTTCTCAAAAGATAAACTCTACCATTCAAGACAGTTATCTTGAAGCTTGTGTAAAAATTAATCATATATATTATATACAGCATTGTAAATAGGTAGCCAAAACTTTTGTGTAGGCGAATAGTAATTCTCTATGAT... | AAATGGAATCAGGGATCACAACACCCCCCAAAATGAGGAGAGTAGCAGAAACTGATTATGAAATGGGTGAGAAACAAAGTATTGATCTAGATCATTGAAAATAAGGTGGGAGAGTACATGAAAGTCATGTTTATTTTCCAGCCATTTCTTAGAATCTTTAGAGTGAAATATAGAAACGTTTGCCATTTCTCAAAAGATAAACTCTACCATTCAAGACAGTTATCTTGAAGCTTGTGTAAAAATTAATCATATATATTATATACAGCATTGTAAATAGGTAGCCAAAACTTTTGTGTAGGCGAATAGTAATTCTCTATGAT... | pathogenic | 269,400 |
Chromosome 17, position 31358608, gene NF1 (neurofibromin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Hereditary_cancer-predisposing_syndrome', 'Neurofibromatosis,_type_1'] | AGCAGAAACTGATTATGAAATGGGTGAGAAACAAAGTATTGATCTAGATCATTGAAAATAAGGTGGGAGAGTACATGAAAGTCATGTTTATTTTCCAGCCATTTCTTAGAATCTTTAGAGTGAAATATAGAAACGTTTGCCATTTCTCAAAAGATAAACTCTACCATTCAAGACAGTTATCTTGAAGCTTGTGTAAAAATTAATCATATATATTATATACAGCATTGTAAATAGGTAGCCAAAACTTTTGTGTAGGCGAATAGTAATTCTCTATGATGTTTATGTTAGTATTTTAAGTATCTACTAAAGAAAGCTGTTGA... | AGCAGAAACTGATTATGAAATGGGTGAGAAACAAAGTATTGATCTAGATCATTGAAAATAAGGTGGGAGAGTACATGAAAGTCATGTTTATTTTCCAGCCATTTCTTAGAATCTTTAGAGTGAAATATAGAAACGTTTGCCATTTCTCAAAAGATAAACTCTACCATTCAAGACAGTTATCTTGAAGCTTGTGTAAAAATTAATCATATATATTATATACAGCATTGTAAATAGGTAGCCAAAACTTTTGTGTAGGCGAATAGTAATTCTCTATGATGTTTATGTTAGTATTTTAAGTATCTACTAAAGAAAGCTGTTGA... | pathogenic | 269,412 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 31358642, gene NF1 (neurofibromin 1). What disease(s) is it linked to if pathogenic? | benign | AGTATTGATCTAGATCATTGAAAATAAGGTGGGAGAGTACATGAAAGTCATGTTTATTTTCCAGCCATTTCTTAGAATCTTTAGAGTGAAATATAGAAACGTTTGCCATTTCTCAAAAGATAAACTCTACCATTCAAGACAGTTATCTTGAAGCTTGTGTAAAAATTAATCATATATATTATATACAGCATTGTAAATAGGTAGCCAAAACTTTTGTGTAGGCGAATAGTAATTCTCTATGATGTTTATGTTAGTATTTTAAGTATCTACTAAAGAAAGCTGTTGAATTTTAGAAGTAACATTGAAATAGTTAGGTGAAG... | AGTATTGATCTAGATCATTGAAAATAAGGTGGGAGAGTACATGAAAGTCATGTTTATTTTCCAGCCATTTCTTAGAATCTTTAGAGTGAAATATAGAAACGTTTGCCATTTCTCAAAAGATAAACTCTACCATTCAAGACAGTTATCTTGAAGCTTGTGTAAAAATTAATCATATATATTATATACAGCATTGTAAATAGGTAGCCAAAACTTTTGTGTAGGCGAATAGTAATTCTCTATGATGTTTATGTTAGTATTTTAAGTATCTACTAAAGAAAGCTGTTGAATTTTAGAAGTAACATTGAAATAGTTAGGTGAAG... | benign | 269,419 |
A mutation at chromosome position 31360519 on chromosome 17 in gene NF1 (neurofibromin 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Juvenile_myelomonocytic_leukemia', 'Neurofibromatosis,_type_1'] | TTCTTTTAGGCATAATTTGTTGGACTCTAAGATCAACACCCTGTTATCATTGTGCCAAGATCCAAATTTGTTAAATCCAATCCATGGAATTGTGCAGAGTGTGGTGTACCATGAAGAATCCCCACCACAATACCAAACATCTTACCTGCAAAGTAAATAAATGTATCTGGAGAAGGATGGTTGATGAACTTGCTAACATGCGCGCTGTTGTAGAATGCACTGACTACAGAATTCTTTATAAGGGATAGACTTGTTCATACTTTTATTTCCATATTCCATTTTTTTACTCTCTCAACTGTATGTCCAATGTAACTGGTTGA... | TTCTTTTAGGCATAATTTGTTGGACTCTAAGATCAACACCCTGTTATCATTGTGCCAAGATCCAAATTTGTTAAATCCAATCCATGGAATTGTGCAGAGTGTGGTGTACCATGAAGAATCCCCACCACAATACCAAACATCTTACCTGCAAAGTAAATAAATGTATCTGGAGAAGGATGGTTGATGAACTTGCTAACATGCGCGCTGTTGTAGAATGCACTGACTACAGAATTCTTTATAAGGGATAGACTTGTTCATACTTTTATTTCCATATTCCATTTTTTTACTCTCTCAACTGTATGTCCAATGTAACTGGTTGA... | pathogenic | 269,445 |
Clinical significance of chromosome 17, position 31988441, gene SUZ12 (SUZ12 polycomb repressive complex 2 subunit): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Acute_megakaryoblastic_leukemia_in_down_syndrome'] | TGGGTTATTTGATTTTTTTTAATCTTGTCAAAAATGTTAATAGTGATTATACTTGAACCTGTATCAAGTATTTTATAAGATAAATTCCTGTGGACTGCTGTGTCCAAACTAGTCTCTGAACACACTTTTACTACATTCTAGTCTAAGTAGTTTTTTGTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTCTTGCTCTGTCTCCAGGCTGGAGTGCAATGGTGCAATTTCGGCTCACTGCAACCTCTGCCTTTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCAGCCACCATGCCC... | TGGGTTATTTGATTTTTTTTAATCTTGTCAAAAATGTTAATAGTGATTATACTTGAACCTGTATCAAGTATTTTATAAGATAAATTCCTGTGGACTGCTGTGTCCAAACTAGTCTCTGAACACACTTTTACTACATTCTAGTCTAAGTAGTTTTTTGTTTTGTTTTGTTTTGTTTTTTGAGATGGAGTCTTGCTCTGTCTCCAGGCTGGAGTGCAATGGTGCAATTTCGGCTCACTGCAACCTCTGCCTTTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCAGCCACCATGCCC... | pathogenic | 269,508 |
Is chromosome 17, position 35101205, gene RAD51D variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GATGATCTCAAACTGCAGTCCTAGGGTCCTCAGTTAGGTATTAAGTACCTGAACTCACTACATAATGGGAACAGGGCAGAGACGGCAACCAGACTCCACCTTGAATACCAACTCCAACTGACTGGTAGTGGCCCCCTGGAGTGCTATATTGAGAAAAACTTCTAAAAACACTTTGACTTCCACAAAAAAGAGTGCTTGTGCCCGATTGGTCATGTCTGCTGTGGGCTGAAGATGCCCAAATAGTACCTTGAGTGGCAAGAATTTGCAATTTCCAGCTTCATGTATTGCATCTTACTGTGGTTGCAGGAATGTGCCAATCA... | GATGATCTCAAACTGCAGTCCTAGGGTCCTCAGTTAGGTATTAAGTACCTGAACTCACTACATAATGGGAACAGGGCAGAGACGGCAACCAGACTCCACCTTGAATACCAACTCCAACTGACTGGTAGTGGCCCCCTGGAGTGCTATATTGAGAAAAACTTCTAAAAACACTTTGACTTCCACAAAAAAGAGTGCTTGTGCCCGATTGGTCATGTCTGCTGTGGGCTGAAGATGCCCAAATAGTACCTTGAGTGGCAAGAATTTGCAATTTCCAGCTTCATGTATTGCATCTTACTGTGGTTGCAGGAATGTGCCAATCA... | pathogenic | 269,602 |
The mutation in gene RAD51D at chromosome 17, position 35101217—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4'] | CTGCAGTCCTAGGGTCCTCAGTTAGGTATTAAGTACCTGAACTCACTACATAATGGGAACAGGGCAGAGACGGCAACCAGACTCCACCTTGAATACCAACTCCAACTGACTGGTAGTGGCCCCCTGGAGTGCTATATTGAGAAAAACTTCTAAAAACACTTTGACTTCCACAAAAAAGAGTGCTTGTGCCCGATTGGTCATGTCTGCTGTGGGCTGAAGATGCCCAAATAGTACCTTGAGTGGCAAGAATTTGCAATTTCCAGCTTCATGTATTGCATCTTACTGTGGTTGCAGGAATGTGCCAATCACCCATGGTATAA... | CTGCAGTCCTAGGGTCCTCAGTTAGGTATTAAGTACCTGAACTCACTACATAATGGGAACAGGGCAGAGACGGCAACCAGACTCCACCTTGAATACCAACTCCAACTGACTGGTAGTGGCCCCCTGGAGTGCTATATTGAGAAAAACTTCTAAAAACACTTTGACTTCCACAAAAAAGAGTGCTTGTGCCCGATTGGTCATGTCTGCTGTGGGCTGAAGATGCCCAAATAGTACCTTGAGTGGCAAGAATTTGCAATTTCCAGCTTCATGTATTGCATCTTACTGTGGTTGCAGGAATGTGCCAATCACCCATGGTATAA... | pathogenic | 269,606 |
A genetic variant on chromosome 17, position 35101302, affects the gene RAD51D. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | ACCTTGAATACCAACTCCAACTGACTGGTAGTGGCCCCCTGGAGTGCTATATTGAGAAAAACTTCTAAAAACACTTTGACTTCCACAAAAAAGAGTGCTTGTGCCCGATTGGTCATGTCTGCTGTGGGCTGAAGATGCCCAAATAGTACCTTGAGTGGCAAGAATTTGCAATTTCCAGCTTCATGTATTGCATCTTACTGTGGTTGCAGGAATGTGCCAATCACCCATGGTATAAAGATACTGAAGATTAATTTCTCCTGAGGTCTTCTGTGAAAGCAAGCGCTAGGATTCCCCCAGGCTTAGGCTTACCAACCCTGTCC... | ACCTTGAATACCAACTCCAACTGACTGGTAGTGGCCCCCTGGAGTGCTATATTGAGAAAAACTTCTAAAAACACTTTGACTTCCACAAAAAAGAGTGCTTGTGCCCGATTGGTCATGTCTGCTGTGGGCTGAAGATGCCCAAATAGTACCTTGAGTGGCAAGAATTTGCAATTTCCAGCTTCATGTATTGCATCTTACTGTGGTTGCAGGAATGTGCCAATCACCCATGGTATAAAGATACTGAAGATTAATTTCTCCTGAGGTCTTCTGTGAAAGCAAGCGCTAGGATTCCCCCAGGCTTAGGCTTACCAACCCTGTCC... | pathogenic | 269,625 |
Is the genetic mutation found on chromosome 17 at position 35101325, within the gene RAD51D, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | ACTGGTAGTGGCCCCCTGGAGTGCTATATTGAGAAAAACTTCTAAAAACACTTTGACTTCCACAAAAAAGAGTGCTTGTGCCCGATTGGTCATGTCTGCTGTGGGCTGAAGATGCCCAAATAGTACCTTGAGTGGCAAGAATTTGCAATTTCCAGCTTCATGTATTGCATCTTACTGTGGTTGCAGGAATGTGCCAATCACCCATGGTATAAAGATACTGAAGATTAATTTCTCCTGAGGTCTTCTGTGAAAGCAAGCGCTAGGATTCCCCCAGGCTTAGGCTTACCAACCCTGTCCTGAATCCAACACCCTGGTGCCAG... | ACTGGTAGTGGCCCCCTGGAGTGCTATATTGAGAAAAACTTCTAAAAACACTTTGACTTCCACAAAAAAGAGTGCTTGTGCCCGATTGGTCATGTCTGCTGTGGGCTGAAGATGCCCAAATAGTACCTTGAGTGGCAAGAATTTGCAATTTCCAGCTTCATGTATTGCATCTTACTGTGGTTGCAGGAATGTGCCAATCACCCATGGTATAAAGATACTGAAGATTAATTTCTCCTGAGGTCTTCTGTGAAAGCAAGCGCTAGGATTCCCCCAGGCTTAGGCTTACCAACCCTGTCCTGAATCCAACACCCTGGTGCCAG... | pathogenic | 269,632 |
Variant in RAD51D, chromosome 17, position 35101329—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | GTAGTGGCCCCCTGGAGTGCTATATTGAGAAAAACTTCTAAAAACACTTTGACTTCCACAAAAAAGAGTGCTTGTGCCCGATTGGTCATGTCTGCTGTGGGCTGAAGATGCCCAAATAGTACCTTGAGTGGCAAGAATTTGCAATTTCCAGCTTCATGTATTGCATCTTACTGTGGTTGCAGGAATGTGCCAATCACCCATGGTATAAAGATACTGAAGATTAATTTCTCCTGAGGTCTTCTGTGAAAGCAAGCGCTAGGATTCCCCCAGGCTTAGGCTTACCAACCCTGTCCTGAATCCAACACCCTGGTGCCAGTTTG... | GTAGTGGCCCCCTGGAGTGCTATATTGAGAAAAACTTCTAAAAACACTTTGACTTCCACAAAAAAGAGTGCTTGTGCCCGATTGGTCATGTCTGCTGTGGGCTGAAGATGCCCAAATAGTACCTTGAGTGGCAAGAATTTGCAATTTCCAGCTTCATGTATTGCATCTTACTGTGGTTGCAGGAATGTGCCAATCACCCATGGTATAAAGATACTGAAGATTAATTTCTCCTGAGGTCTTCTGTGAAAGCAAGCGCTAGGATTCCCCCAGGCTTAGGCTTACCAACCCTGTCCTGAATCCAACACCCTGGTGCCAGTTTG... | pathogenic | 269,633 |
For chromosome 17, position 35101337, gene RAD51D: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4'] | CCCCTGGAGTGCTATATTGAGAAAAACTTCTAAAAACACTTTGACTTCCACAAAAAAGAGTGCTTGTGCCCGATTGGTCATGTCTGCTGTGGGCTGAAGATGCCCAAATAGTACCTTGAGTGGCAAGAATTTGCAATTTCCAGCTTCATGTATTGCATCTTACTGTGGTTGCAGGAATGTGCCAATCACCCATGGTATAAAGATACTGAAGATTAATTTCTCCTGAGGTCTTCTGTGAAAGCAAGCGCTAGGATTCCCCCAGGCTTAGGCTTACCAACCCTGTCCTGAATCCAACACCCTGGTGCCAGTTTGCCACTCCT... | CCCCTGGAGTGCTATATTGAGAAAAACTTCTAAAAACACTTTGACTTCCACAAAAAAGAGTGCTTGTGCCCGATTGGTCATGTCTGCTGTGGGCTGAAGATGCCCAAATAGTACCTTGAGTGGCAAGAATTTGCAATTTCCAGCTTCATGTATTGCATCTTACTGTGGTTGCAGGAATGTGCCAATCACCCATGGTATAAAGATACTGAAGATTAATTTCTCCTGAGGTCTTCTGTGAAAGCAAGCGCTAGGATTCCCCCAGGCTTAGGCTTACCAACCCTGTCCTGAATCCAACACCCTGGTGCCAGTTTGCCACTCCT... | pathogenic | 269,637 |
The mutation in gene RAD51D at chromosome 17, position 35101351—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | TATTGAGAAAAACTTCTAAAAACACTTTGACTTCCACAAAAAAGAGTGCTTGTGCCCGATTGGTCATGTCTGCTGTGGGCTGAAGATGCCCAAATAGTACCTTGAGTGGCAAGAATTTGCAATTTCCAGCTTCATGTATTGCATCTTACTGTGGTTGCAGGAATGTGCCAATCACCCATGGTATAAAGATACTGAAGATTAATTTCTCCTGAGGTCTTCTGTGAAAGCAAGCGCTAGGATTCCCCCAGGCTTAGGCTTACCAACCCTGTCCTGAATCCAACACCCTGGTGCCAGTTTGCCACTCCTTCCCAATCCTCCAT... | TATTGAGAAAAACTTCTAAAAACACTTTGACTTCCACAAAAAAGAGTGCTTGTGCCCGATTGGTCATGTCTGCTGTGGGCTGAAGATGCCCAAATAGTACCTTGAGTGGCAAGAATTTGCAATTTCCAGCTTCATGTATTGCATCTTACTGTGGTTGCAGGAATGTGCCAATCACCCATGGTATAAAGATACTGAAGATTAATTTCTCCTGAGGTCTTCTGTGAAAGCAAGCGCTAGGATTCCCCCAGGCTTAGGCTTACCAACCCTGTCCTGAATCCAACACCCTGGTGCCAGTTTGCCACTCCTTCCCAATCCTCCAT... | pathogenic | 269,643 |
Determine whether the variant at chromosome 17, position 35101355, in gene RAD51D is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGAAAAACTTCTAAAAACACTTTGACTTCCACAAAAAAGAGTGCTTGTGCCCGATTGGTCATGTCTGCTGTGGGCTGAAGATGCCCAAATAGTACCTTGAGTGGCAAGAATTTGCAATTTCCAGCTTCATGTATTGCATCTTACTGTGGTTGCAGGAATGTGCCAATCACCCATGGTATAAAGATACTGAAGATTAATTTCTCCTGAGGTCTTCTGTGAAAGCAAGCGCTAGGATTCCCCCAGGCTTAGGCTTACCAACCCTGTCCTGAATCCAACACCCTGGTGCCAGTTTGCCACTCCTTCCCAATCCTCCATGATT... | GAGAAAAACTTCTAAAAACACTTTGACTTCCACAAAAAAGAGTGCTTGTGCCCGATTGGTCATGTCTGCTGTGGGCTGAAGATGCCCAAATAGTACCTTGAGTGGCAAGAATTTGCAATTTCCAGCTTCATGTATTGCATCTTACTGTGGTTGCAGGAATGTGCCAATCACCCATGGTATAAAGATACTGAAGATTAATTTCTCCTGAGGTCTTCTGTGAAAGCAAGCGCTAGGATTCCCCCAGGCTTAGGCTTACCAACCCTGTCCTGAATCCAACACCCTGGTGCCAGTTTGCCACTCCTTCCCAATCCTCCATGATT... | pathogenic | 269,645 |
For chromosome 17, position 35101357, gene RAD51D: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | GAAAAACTTCTAAAAACACTTTGACTTCCACAAAAAAGAGTGCTTGTGCCCGATTGGTCATGTCTGCTGTGGGCTGAAGATGCCCAAATAGTACCTTGAGTGGCAAGAATTTGCAATTTCCAGCTTCATGTATTGCATCTTACTGTGGTTGCAGGAATGTGCCAATCACCCATGGTATAAAGATACTGAAGATTAATTTCTCCTGAGGTCTTCTGTGAAAGCAAGCGCTAGGATTCCCCCAGGCTTAGGCTTACCAACCCTGTCCTGAATCCAACACCCTGGTGCCAGTTTGCCACTCCTTCCCAATCCTCCATGATTCT... | GAAAAACTTCTAAAAACACTTTGACTTCCACAAAAAAGAGTGCTTGTGCCCGATTGGTCATGTCTGCTGTGGGCTGAAGATGCCCAAATAGTACCTTGAGTGGCAAGAATTTGCAATTTCCAGCTTCATGTATTGCATCTTACTGTGGTTGCAGGAATGTGCCAATCACCCATGGTATAAAGATACTGAAGATTAATTTCTCCTGAGGTCTTCTGTGAAAGCAAGCGCTAGGATTCCCCCAGGCTTAGGCTTACCAACCCTGTCCTGAATCCAACACCCTGGTGCCAGTTTGCCACTCCTTCCCAATCCTCCATGATTCT... | pathogenic | 269,646 |
Variant chromosome 17, position 35101362, gene RAD51D: benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | ACTTCTAAAAACACTTTGACTTCCACAAAAAAGAGTGCTTGTGCCCGATTGGTCATGTCTGCTGTGGGCTGAAGATGCCCAAATAGTACCTTGAGTGGCAAGAATTTGCAATTTCCAGCTTCATGTATTGCATCTTACTGTGGTTGCAGGAATGTGCCAATCACCCATGGTATAAAGATACTGAAGATTAATTTCTCCTGAGGTCTTCTGTGAAAGCAAGCGCTAGGATTCCCCCAGGCTTAGGCTTACCAACCCTGTCCTGAATCCAACACCCTGGTGCCAGTTTGCCACTCCTTCCCAATCCTCCATGATTCTATCCC... | ACTTCTAAAAACACTTTGACTTCCACAAAAAAGAGTGCTTGTGCCCGATTGGTCATGTCTGCTGTGGGCTGAAGATGCCCAAATAGTACCTTGAGTGGCAAGAATTTGCAATTTCCAGCTTCATGTATTGCATCTTACTGTGGTTGCAGGAATGTGCCAATCACCCATGGTATAAAGATACTGAAGATTAATTTCTCCTGAGGTCTTCTGTGAAAGCAAGCGCTAGGATTCCCCCAGGCTTAGGCTTACCAACCCTGTCCTGAATCCAACACCCTGGTGCCAGTTTGCCACTCCTTCCCAATCCTCCATGATTCTATCCC... | pathogenic | 269,647 |
Does the genetic variant at chromosome 17, position 35103294, impacting gene RAD51D, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | TGCTCCTGCTCCCTCGATGGTGTCCAGGAGAATCCGAGTGCTGGGCACAAAGCTCCAGGAGCGTCCGAGGGCAGGTTTGAGCCTCCCGCTGTCCCTGTCTCGAGTTATGTGGTTGGTCACCTGCAGCAGAAACAGACTTACAGATCCATAATGCTAGTATAGAGGACATCGATTACTACCGCTTCATTTTACGGAGAGGAAAACAGAGGCCTAGCACAGAGAAATAACTTCCCCAAGGTTACAAAACCTAATGGCAGGTCTGGAACTAGAACCTGGGCCTCCTGACTTGTGCCCCGCTCTTTCCACTAAATCTCGATGCC... | TGCTCCTGCTCCCTCGATGGTGTCCAGGAGAATCCGAGTGCTGGGCACAAAGCTCCAGGAGCGTCCGAGGGCAGGTTTGAGCCTCCCGCTGTCCCTGTCTCGAGTTATGTGGTTGGTCACCTGCAGCAGAAACAGACTTACAGATCCATAATGCTAGTATAGAGGACATCGATTACTACCGCTTCATTTTACGGAGAGGAAAACAGAGGCCTAGCACAGAGAAATAACTTCCCCAAGGTTACAAAACCTAATGGCAGGTCTGGAACTAGAACCTGGGCCTCCTGACTTGTGCCCCGCTCTTTCCACTAAATCTCGATGCC... | pathogenic | 269,666 |
Determine whether the variant at chromosome 17, position 35103297, in gene RAD51D is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4'] | TCCTGCTCCCTCGATGGTGTCCAGGAGAATCCGAGTGCTGGGCACAAAGCTCCAGGAGCGTCCGAGGGCAGGTTTGAGCCTCCCGCTGTCCCTGTCTCGAGTTATGTGGTTGGTCACCTGCAGCAGAAACAGACTTACAGATCCATAATGCTAGTATAGAGGACATCGATTACTACCGCTTCATTTTACGGAGAGGAAAACAGAGGCCTAGCACAGAGAAATAACTTCCCCAAGGTTACAAAACCTAATGGCAGGTCTGGAACTAGAACCTGGGCCTCCTGACTTGTGCCCCGCTCTTTCCACTAAATCTCGATGCCTCA... | TCCTGCTCCCTCGATGGTGTCCAGGAGAATCCGAGTGCTGGGCACAAAGCTCCAGGAGCGTCCGAGGGCAGGTTTGAGCCTCCCGCTGTCCCTGTCTCGAGTTATGTGGTTGGTCACCTGCAGCAGAAACAGACTTACAGATCCATAATGCTAGTATAGAGGACATCGATTACTACCGCTTCATTTTACGGAGAGGAAAACAGAGGCCTAGCACAGAGAAATAACTTCCCCAAGGTTACAAAACCTAATGGCAGGTCTGGAACTAGAACCTGGGCCTCCTGACTTGTGCCCCGCTCTTTCCACTAAATCTCGATGCCTCA... | pathogenic | 269,667 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 35103322, gene RAD51D. What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | AGAATCCGAGTGCTGGGCACAAAGCTCCAGGAGCGTCCGAGGGCAGGTTTGAGCCTCCCGCTGTCCCTGTCTCGAGTTATGTGGTTGGTCACCTGCAGCAGAAACAGACTTACAGATCCATAATGCTAGTATAGAGGACATCGATTACTACCGCTTCATTTTACGGAGAGGAAAACAGAGGCCTAGCACAGAGAAATAACTTCCCCAAGGTTACAAAACCTAATGGCAGGTCTGGAACTAGAACCTGGGCCTCCTGACTTGTGCCCCGCTCTTTCCACTAAATCTCGATGCCTCAGGTTTGACCCGAACCAGAAGGCGAT... | AGAATCCGAGTGCTGGGCACAAAGCTCCAGGAGCGTCCGAGGGCAGGTTTGAGCCTCCCGCTGTCCCTGTCTCGAGTTATGTGGTTGGTCACCTGCAGCAGAAACAGACTTACAGATCCATAATGCTAGTATAGAGGACATCGATTACTACCGCTTCATTTTACGGAGAGGAAAACAGAGGCCTAGCACAGAGAAATAACTTCCCCAAGGTTACAAAACCTAATGGCAGGTCTGGAACTAGAACCTGGGCCTCCTGACTTGTGCCCCGCTCTTTCCACTAAATCTCGATGCCTCAGGTTTGACCCGAACCAGAAGGCGAT... | pathogenic | 269,676 |
Regarding the variant at chromosome 17 and position 35103328, affecting gene RAD51D: benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CGAGTGCTGGGCACAAAGCTCCAGGAGCGTCCGAGGGCAGGTTTGAGCCTCCCGCTGTCCCTGTCTCGAGTTATGTGGTTGGTCACCTGCAGCAGAAACAGACTTACAGATCCATAATGCTAGTATAGAGGACATCGATTACTACCGCTTCATTTTACGGAGAGGAAAACAGAGGCCTAGCACAGAGAAATAACTTCCCCAAGGTTACAAAACCTAATGGCAGGTCTGGAACTAGAACCTGGGCCTCCTGACTTGTGCCCCGCTCTTTCCACTAAATCTCGATGCCTCAGGTTTGACCCGAACCAGAAGGCGATGGGGCA... | CGAGTGCTGGGCACAAAGCTCCAGGAGCGTCCGAGGGCAGGTTTGAGCCTCCCGCTGTCCCTGTCTCGAGTTATGTGGTTGGTCACCTGCAGCAGAAACAGACTTACAGATCCATAATGCTAGTATAGAGGACATCGATTACTACCGCTTCATTTTACGGAGAGGAAAACAGAGGCCTAGCACAGAGAAATAACTTCCCCAAGGTTACAAAACCTAATGGCAGGTCTGGAACTAGAACCTGGGCCTCCTGACTTGTGCCCCGCTCTTTCCACTAAATCTCGATGCCTCAGGTTTGACCCGAACCAGAAGGCGATGGGGCA... | benign | 269,681 |
Determine whether the variant at chromosome 17, position 35103466, in gene RAD51D is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTACTACCGCTTCATTTTACGGAGAGGAAAACAGAGGCCTAGCACAGAGAAATAACTTCCCCAAGGTTACAAAACCTAATGGCAGGTCTGGAACTAGAACCTGGGCCTCCTGACTTGTGCCCCGCTCTTTCCACTAAATCTCGATGCCTCAGGTTTGACCCGAACCAGAAGGCGATGGGGCACATGTCACCATGCTTTCCAGGCTGGTCTCAAACTCTTGAGCTCATGCAGTCCGCCAGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGTGTGGGCCACCACGCCCAGACACTCAGCCTTTAAAAGGAAGGAAAGTCTG... | TTACTACCGCTTCATTTTACGGAGAGGAAAACAGAGGCCTAGCACAGAGAAATAACTTCCCCAAGGTTACAAAACCTAATGGCAGGTCTGGAACTAGAACCTGGGCCTCCTGACTTGTGCCCCGCTCTTTCCACTAAATCTCGATGCCTCAGGTTTGACCCGAACCAGAAGGCGATGGGGCACATGTCACCATGCTTTCCAGGCTGGTCTCAAACTCTTGAGCTCATGCAGTCCGCCAGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGTGTGGGCCACCACGCCCAGACACTCAGCCTTTAAAAGGAAGGAAAGTCTG... | pathogenic | 269,692 |
Considering the genetic mutation at chromosome 17, position 35103479, impacting RAD51D: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | ATTTTACGGAGAGGAAAACAGAGGCCTAGCACAGAGAAATAACTTCCCCAAGGTTACAAAACCTAATGGCAGGTCTGGAACTAGAACCTGGGCCTCCTGACTTGTGCCCCGCTCTTTCCACTAAATCTCGATGCCTCAGGTTTGACCCGAACCAGAAGGCGATGGGGCACATGTCACCATGCTTTCCAGGCTGGTCTCAAACTCTTGAGCTCATGCAGTCCGCCAGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGTGTGGGCCACCACGCCCAGACACTCAGCCTTTAAAAGGAAGGAAAGTCTGACACATGCTACAA... | ATTTTACGGAGAGGAAAACAGAGGCCTAGCACAGAGAAATAACTTCCCCAAGGTTACAAAACCTAATGGCAGGTCTGGAACTAGAACCTGGGCCTCCTGACTTGTGCCCCGCTCTTTCCACTAAATCTCGATGCCTCAGGTTTGACCCGAACCAGAAGGCGATGGGGCACATGTCACCATGCTTTCCAGGCTGGTCTCAAACTCTTGAGCTCATGCAGTCCGCCAGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGTGTGGGCCACCACGCCCAGACACTCAGCCTTTAAAAGGAAGGAAAGTCTGACACATGCTACAA... | pathogenic | 269,697 |
Variant in RAD51D, chromosome 17, position 35103497—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome', 'Inherited_breast_cancer_and_ovarian_cancer'] | CAGAGGCCTAGCACAGAGAAATAACTTCCCCAAGGTTACAAAACCTAATGGCAGGTCTGGAACTAGAACCTGGGCCTCCTGACTTGTGCCCCGCTCTTTCCACTAAATCTCGATGCCTCAGGTTTGACCCGAACCAGAAGGCGATGGGGCACATGTCACCATGCTTTCCAGGCTGGTCTCAAACTCTTGAGCTCATGCAGTCCGCCAGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGTGTGGGCCACCACGCCCAGACACTCAGCCTTTAAAAGGAAGGAAAGTCTGACACATGCTACAAGGTGGATGAACCTTCTGG... | CAGAGGCCTAGCACAGAGAAATAACTTCCCCAAGGTTACAAAACCTAATGGCAGGTCTGGAACTAGAACCTGGGCCTCCTGACTTGTGCCCCGCTCTTTCCACTAAATCTCGATGCCTCAGGTTTGACCCGAACCAGAAGGCGATGGGGCACATGTCACCATGCTTTCCAGGCTGGTCTCAAACTCTTGAGCTCATGCAGTCCGCCAGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGTGTGGGCCACCACGCCCAGACACTCAGCCTTTAAAAGGAAGGAAAGTCTGACACATGCTACAAGGTGGATGAACCTTCTGG... | pathogenic | 269,702 |
Evaluate if the mutation on chromosome 17 at position 35103510 in RAD51D is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4'] | CAGAGAAATAACTTCCCCAAGGTTACAAAACCTAATGGCAGGTCTGGAACTAGAACCTGGGCCTCCTGACTTGTGCCCCGCTCTTTCCACTAAATCTCGATGCCTCAGGTTTGACCCGAACCAGAAGGCGATGGGGCACATGTCACCATGCTTTCCAGGCTGGTCTCAAACTCTTGAGCTCATGCAGTCCGCCAGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGTGTGGGCCACCACGCCCAGACACTCAGCCTTTAAAAGGAAGGAAAGTCTGACACATGCTACAAGGTGGATGAACCTTCTGGACATTATGCTAAG... | CAGAGAAATAACTTCCCCAAGGTTACAAAACCTAATGGCAGGTCTGGAACTAGAACCTGGGCCTCCTGACTTGTGCCCCGCTCTTTCCACTAAATCTCGATGCCTCAGGTTTGACCCGAACCAGAAGGCGATGGGGCACATGTCACCATGCTTTCCAGGCTGGTCTCAAACTCTTGAGCTCATGCAGTCCGCCAGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGTGTGGGCCACCACGCCCAGACACTCAGCCTTTAAAAGGAAGGAAAGTCTGACACATGCTACAAGGTGGATGAACCTTCTGGACATTATGCTAAG... | pathogenic | 269,709 |
The genetic variant at chromosome 17, position 35103536, affecting gene RAD51D: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4'] | AAAACCTAATGGCAGGTCTGGAACTAGAACCTGGGCCTCCTGACTTGTGCCCCGCTCTTTCCACTAAATCTCGATGCCTCAGGTTTGACCCGAACCAGAAGGCGATGGGGCACATGTCACCATGCTTTCCAGGCTGGTCTCAAACTCTTGAGCTCATGCAGTCCGCCAGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGTGTGGGCCACCACGCCCAGACACTCAGCCTTTAAAAGGAAGGAAAGTCTGACACATGCTACAAGGTGGATGAACCTTCTGGACATTATGCTAAGTGAAATACTCCAGTCACAAAAAGTAA... | AAAACCTAATGGCAGGTCTGGAACTAGAACCTGGGCCTCCTGACTTGTGCCCCGCTCTTTCCACTAAATCTCGATGCCTCAGGTTTGACCCGAACCAGAAGGCGATGGGGCACATGTCACCATGCTTTCCAGGCTGGTCTCAAACTCTTGAGCTCATGCAGTCCGCCAGCCTCAGCCTCCCAAAGTGCTGGGATTACAAGTGTGGGCCACCACGCCCAGACACTCAGCCTTTAAAAGGAAGGAAAGTCTGACACATGCTACAAGGTGGATGAACCTTCTGGACATTATGCTAAGTGAAATACTCCAGTCACAAAAAGTAA... | pathogenic | 269,718 |
Clinical classification of chromosome 17, position 35106393, gene RAD51D: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4'] | ATCATGCCTCTAGGCCTCATCTTCCGTATCTAAAATGCCTCCAAATAAATTCCCTAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTAACTGCAACCTCTGCCTCCTCGGTTCAAACGATTCTCATGCCTCAGCTTCCTAAGTAGCTGTGACTATGGGTGCACACATTGGGTGCACACTACGGGTGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTTACCGTGTTGGCCAGGCTGGTCTCGAAATCCGGCCTCAAGTGATCTGGCCACTTTGGCCTCCCAAAATGCCAGGATTACAGGCA... | ATCATGCCTCTAGGCCTCATCTTCCGTATCTAAAATGCCTCCAAATAAATTCCCTAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTAACTGCAACCTCTGCCTCCTCGGTTCAAACGATTCTCATGCCTCAGCTTCCTAAGTAGCTGTGACTATGGGTGCACACATTGGGTGCACACTACGGGTGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTTACCGTGTTGGCCAGGCTGGTCTCGAAATCCGGCCTCAAGTGATCTGGCCACTTTGGCCTCCCAAAATGCCAGGATTACAGGCA... | pathogenic | 269,733 |
Variant on chromosome 17, at position 35106394, affecting RAD51D: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | TCATGCCTCTAGGCCTCATCTTCCGTATCTAAAATGCCTCCAAATAAATTCCCTAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTAACTGCAACCTCTGCCTCCTCGGTTCAAACGATTCTCATGCCTCAGCTTCCTAAGTAGCTGTGACTATGGGTGCACACATTGGGTGCACACTACGGGTGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTTACCGTGTTGGCCAGGCTGGTCTCGAAATCCGGCCTCAAGTGATCTGGCCACTTTGGCCTCCCAAAATGCCAGGATTACAGGCAT... | TCATGCCTCTAGGCCTCATCTTCCGTATCTAAAATGCCTCCAAATAAATTCCCTAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTAACTGCAACCTCTGCCTCCTCGGTTCAAACGATTCTCATGCCTCAGCTTCCTAAGTAGCTGTGACTATGGGTGCACACATTGGGTGCACACTACGGGTGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTTACCGTGTTGGCCAGGCTGGTCTCGAAATCCGGCCTCAAGTGATCTGGCCACTTTGGCCTCCCAAAATGCCAGGATTACAGGCAT... | pathogenic | 269,734 |
Gene RAD51D variant at chromosome position 35106397 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | TGCCTCTAGGCCTCATCTTCCGTATCTAAAATGCCTCCAAATAAATTCCCTAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTAACTGCAACCTCTGCCTCCTCGGTTCAAACGATTCTCATGCCTCAGCTTCCTAAGTAGCTGTGACTATGGGTGCACACATTGGGTGCACACTACGGGTGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTTACCGTGTTGGCCAGGCTGGTCTCGAAATCCGGCCTCAAGTGATCTGGCCACTTTGGCCTCCCAAAATGCCAGGATTACAGGCATGAG... | TGCCTCTAGGCCTCATCTTCCGTATCTAAAATGCCTCCAAATAAATTCCCTAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTAACTGCAACCTCTGCCTCCTCGGTTCAAACGATTCTCATGCCTCAGCTTCCTAAGTAGCTGTGACTATGGGTGCACACATTGGGTGCACACTACGGGTGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTTACCGTGTTGGCCAGGCTGGTCTCGAAATCCGGCCTCAAGTGATCTGGCCACTTTGGCCTCCCAAAATGCCAGGATTACAGGCATGAG... | pathogenic | 269,736 |
A genetic alteration at chromosome 17, position 35106438, in gene RAD51D—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4'] | TAAATTCCCTAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTAACTGCAACCTCTGCCTCCTCGGTTCAAACGATTCTCATGCCTCAGCTTCCTAAGTAGCTGTGACTATGGGTGCACACATTGGGTGCACACTACGGGTGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTTACCGTGTTGGCCAGGCTGGTCTCGAAATCCGGCCTCAAGTGATCTGGCCACTTTGGCCTCCCAAAATGCCAGGATTACAGGCATGAGCCACCAAGCCTAGCCTGTGCCATCTTTCTAACCATAATTTT... | TAAATTCCCTAAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTAACTGCAACCTCTGCCTCCTCGGTTCAAACGATTCTCATGCCTCAGCTTCCTAAGTAGCTGTGACTATGGGTGCACACATTGGGTGCACACTACGGGTGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTTACCGTGTTGGCCAGGCTGGTCTCGAAATCCGGCCTCAAGTGATCTGGCCACTTTGGCCTCCCAAAATGCCAGGATTACAGGCATGAGCCACCAAGCCTAGCCTGTGCCATCTTTCTAACCATAATTTT... | pathogenic | 269,744 |
Does the chromosome 17 mutation at position 35106455 within gene RAD51D classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | GCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTAACTGCAACCTCTGCCTCCTCGGTTCAAACGATTCTCATGCCTCAGCTTCCTAAGTAGCTGTGACTATGGGTGCACACATTGGGTGCACACTACGGGTGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTTACCGTGTTGGCCAGGCTGGTCTCGAAATCCGGCCTCAAGTGATCTGGCCACTTTGGCCTCCCAAAATGCCAGGATTACAGGCATGAGCCACCAAGCCTAGCCTGTGCCATCTTTCTAACCATAATTTTCTGTCTTTACACAAGCA... | GCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTAACTGCAACCTCTGCCTCCTCGGTTCAAACGATTCTCATGCCTCAGCTTCCTAAGTAGCTGTGACTATGGGTGCACACATTGGGTGCACACTACGGGTGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTTACCGTGTTGGCCAGGCTGGTCTCGAAATCCGGCCTCAAGTGATCTGGCCACTTTGGCCTCCCAAAATGCCAGGATTACAGGCATGAGCCACCAAGCCTAGCCTGTGCCATCTTTCTAACCATAATTTTCTGTCTTTACACAAGCA... | pathogenic | 269,748 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 35106475, gene RAD51D: what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | GTGCAGTGGCATGATCTCAGCTAACTGCAACCTCTGCCTCCTCGGTTCAAACGATTCTCATGCCTCAGCTTCCTAAGTAGCTGTGACTATGGGTGCACACATTGGGTGCACACTACGGGTGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTTACCGTGTTGGCCAGGCTGGTCTCGAAATCCGGCCTCAAGTGATCTGGCCACTTTGGCCTCCCAAAATGCCAGGATTACAGGCATGAGCCACCAAGCCTAGCCTGTGCCATCTTTCTAACCATAATTTTCTGTCTTTACACAAGCAGGAGAATCCTCCTGGTTTCC... | GTGCAGTGGCATGATCTCAGCTAACTGCAACCTCTGCCTCCTCGGTTCAAACGATTCTCATGCCTCAGCTTCCTAAGTAGCTGTGACTATGGGTGCACACATTGGGTGCACACTACGGGTGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTTACCGTGTTGGCCAGGCTGGTCTCGAAATCCGGCCTCAAGTGATCTGGCCACTTTGGCCTCCCAAAATGCCAGGATTACAGGCATGAGCCACCAAGCCTAGCCTGTGCCATCTTTCTAACCATAATTTTCTGTCTTTACACAAGCAGGAGAATCCTCCTGGTTTCC... | pathogenic | 269,752 |
A genetic variant at chromosome 17, position 35106479, affecting gene RAD51D—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | AGTGGCATGATCTCAGCTAACTGCAACCTCTGCCTCCTCGGTTCAAACGATTCTCATGCCTCAGCTTCCTAAGTAGCTGTGACTATGGGTGCACACATTGGGTGCACACTACGGGTGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTTACCGTGTTGGCCAGGCTGGTCTCGAAATCCGGCCTCAAGTGATCTGGCCACTTTGGCCTCCCAAAATGCCAGGATTACAGGCATGAGCCACCAAGCCTAGCCTGTGCCATCTTTCTAACCATAATTTTCTGTCTTTACACAAGCAGGAGAATCCTCCTGGTTTCCCTGG... | AGTGGCATGATCTCAGCTAACTGCAACCTCTGCCTCCTCGGTTCAAACGATTCTCATGCCTCAGCTTCCTAAGTAGCTGTGACTATGGGTGCACACATTGGGTGCACACTACGGGTGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTTACCGTGTTGGCCAGGCTGGTCTCGAAATCCGGCCTCAAGTGATCTGGCCACTTTGGCCTCCCAAAATGCCAGGATTACAGGCATGAGCCACCAAGCCTAGCCTGTGCCATCTTTCTAACCATAATTTTCTGTCTTTACACAAGCAGGAGAATCCTCCTGGTTTCCCTGG... | pathogenic | 269,753 |
Chromosome 17, position 35106500, gene RAD51D: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TGCAACCTCTGCCTCCTCGGTTCAAACGATTCTCATGCCTCAGCTTCCTAAGTAGCTGTGACTATGGGTGCACACATTGGGTGCACACTACGGGTGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTTACCGTGTTGGCCAGGCTGGTCTCGAAATCCGGCCTCAAGTGATCTGGCCACTTTGGCCTCCCAAAATGCCAGGATTACAGGCATGAGCCACCAAGCCTAGCCTGTGCCATCTTTCTAACCATAATTTTCTGTCTTTACACAAGCAGGAGAATCCTCCTGGTTTCCCTGGACTTAAACTGTTTTTGATGCT... | TGCAACCTCTGCCTCCTCGGTTCAAACGATTCTCATGCCTCAGCTTCCTAAGTAGCTGTGACTATGGGTGCACACATTGGGTGCACACTACGGGTGCTAATTTTTGTATTTTTAGCAGAGACGGGGTTTTACCGTGTTGGCCAGGCTGGTCTCGAAATCCGGCCTCAAGTGATCTGGCCACTTTGGCCTCCCAAAATGCCAGGATTACAGGCATGAGCCACCAAGCCTAGCCTGTGCCATCTTTCTAACCATAATTTTCTGTCTTTACACAAGCAGGAGAATCCTCCTGGTTTCCCTGGACTTAAACTGTTTTTGATGCT... | benign | 269,757 |
Assess the variant on chromosome 17, position 35107006, impacting RAD51D: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | CGCTCCTAGTCTCAGATTCTTAACCCCTAGAAACTGTGAGATAAGAAATACTATGTCTTAAGCCACTAAGGTTTTGGTAACTTATTATGCAATAATAGAAGATATATCATCTAATGGTCCTACAGTAAAAAATACAGTCTTCTGATCTGGAATTGAGAGGTTTGGGCTATAAGGTTAGTTCTTGCCCTAAATATTTGGTCAACTTTGGTCAACTCACTTCACTTCTCCGGCCTTCACTCTTCTCATCTCTAAAAGTGAGGTAAGCACTACTCAGCTTCATGTCTCAACAAGCTGGTGGGTCATAACCAGCTATGACTTCT... | CGCTCCTAGTCTCAGATTCTTAACCCCTAGAAACTGTGAGATAAGAAATACTATGTCTTAAGCCACTAAGGTTTTGGTAACTTATTATGCAATAATAGAAGATATATCATCTAATGGTCCTACAGTAAAAAATACAGTCTTCTGATCTGGAATTGAGAGGTTTGGGCTATAAGGTTAGTTCTTGCCCTAAATATTTGGTCAACTTTGGTCAACTCACTTCACTTCTCCGGCCTTCACTCTTCTCATCTCTAAAAGTGAGGTAAGCACTACTCAGCTTCATGTCTCAACAAGCTGGTGGGTCATAACCAGCTATGACTTCT... | pathogenic | 269,769 |
The chromosome 17, position 35107034 genetic variant in gene RAD51D: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | AGAAACTGTGAGATAAGAAATACTATGTCTTAAGCCACTAAGGTTTTGGTAACTTATTATGCAATAATAGAAGATATATCATCTAATGGTCCTACAGTAAAAAATACAGTCTTCTGATCTGGAATTGAGAGGTTTGGGCTATAAGGTTAGTTCTTGCCCTAAATATTTGGTCAACTTTGGTCAACTCACTTCACTTCTCCGGCCTTCACTCTTCTCATCTCTAAAAGTGAGGTAAGCACTACTCAGCTTCATGTCTCAACAAGCTGGTGGGTCATAACCAGCTATGACTTCTGAGGTAAGTATTTGTTCAACATTTTTTT... | AGAAACTGTGAGATAAGAAATACTATGTCTTAAGCCACTAAGGTTTTGGTAACTTATTATGCAATAATAGAAGATATATCATCTAATGGTCCTACAGTAAAAAATACAGTCTTCTGATCTGGAATTGAGAGGTTTGGGCTATAAGGTTAGTTCTTGCCCTAAATATTTGGTCAACTTTGGTCAACTCACTTCACTTCTCCGGCCTTCACTCTTCTCATCTCTAAAAGTGAGGTAAGCACTACTCAGCTTCATGTCTCAACAAGCTGGTGGGTCATAACCAGCTATGACTTCTGAGGTAAGTATTTGTTCAACATTTTTTT... | pathogenic | 269,775 |
Variant in gene RAD51D, located at chromosome 17 position 35107104: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Inherited_ovarian_cancer_(without_breast_cancer)'] | AAGATATATCATCTAATGGTCCTACAGTAAAAAATACAGTCTTCTGATCTGGAATTGAGAGGTTTGGGCTATAAGGTTAGTTCTTGCCCTAAATATTTGGTCAACTTTGGTCAACTCACTTCACTTCTCCGGCCTTCACTCTTCTCATCTCTAAAAGTGAGGTAAGCACTACTCAGCTTCATGTCTCAACAAGCTGGTGGGTCATAACCAGCTATGACTTCTGAGGTAAGTATTTGTTCAACATTTTTTTTTAAAGACGGGGTCTAGCTCTGCTGACCAGGCTAAGGTACAGTGGTATGATCATAGCTCACTGCAACCTC... | AAGATATATCATCTAATGGTCCTACAGTAAAAAATACAGTCTTCTGATCTGGAATTGAGAGGTTTGGGCTATAAGGTTAGTTCTTGCCCTAAATATTTGGTCAACTTTGGTCAACTCACTTCACTTCTCCGGCCTTCACTCTTCTCATCTCTAAAAGTGAGGTAAGCACTACTCAGCTTCATGTCTCAACAAGCTGGTGGGTCATAACCAGCTATGACTTCTGAGGTAAGTATTTGTTCAACATTTTTTTTTAAAGACGGGGTCTAGCTCTGCTGACCAGGCTAAGGTACAGTGGTATGATCATAGCTCACTGCAACCTC... | pathogenic | 269,792 |
Determine whether the variant at chromosome 17, position 35107107, in gene RAD51D is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | ATATATCATCTAATGGTCCTACAGTAAAAAATACAGTCTTCTGATCTGGAATTGAGAGGTTTGGGCTATAAGGTTAGTTCTTGCCCTAAATATTTGGTCAACTTTGGTCAACTCACTTCACTTCTCCGGCCTTCACTCTTCTCATCTCTAAAAGTGAGGTAAGCACTACTCAGCTTCATGTCTCAACAAGCTGGTGGGTCATAACCAGCTATGACTTCTGAGGTAAGTATTTGTTCAACATTTTTTTTTAAAGACGGGGTCTAGCTCTGCTGACCAGGCTAAGGTACAGTGGTATGATCATAGCTCACTGCAACCTCCAA... | ATATATCATCTAATGGTCCTACAGTAAAAAATACAGTCTTCTGATCTGGAATTGAGAGGTTTGGGCTATAAGGTTAGTTCTTGCCCTAAATATTTGGTCAACTTTGGTCAACTCACTTCACTTCTCCGGCCTTCACTCTTCTCATCTCTAAAAGTGAGGTAAGCACTACTCAGCTTCATGTCTCAACAAGCTGGTGGGTCATAACCAGCTATGACTTCTGAGGTAAGTATTTGTTCAACATTTTTTTTTAAAGACGGGGTCTAGCTCTGCTGACCAGGCTAAGGTACAGTGGTATGATCATAGCTCACTGCAACCTCCAA... | pathogenic | 269,793 |
Variant at chromosome position 35107116, chromosome 17, gene RAD51D: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CTAATGGTCCTACAGTAAAAAATACAGTCTTCTGATCTGGAATTGAGAGGTTTGGGCTATAAGGTTAGTTCTTGCCCTAAATATTTGGTCAACTTTGGTCAACTCACTTCACTTCTCCGGCCTTCACTCTTCTCATCTCTAAAAGTGAGGTAAGCACTACTCAGCTTCATGTCTCAACAAGCTGGTGGGTCATAACCAGCTATGACTTCTGAGGTAAGTATTTGTTCAACATTTTTTTTTAAAGACGGGGTCTAGCTCTGCTGACCAGGCTAAGGTACAGTGGTATGATCATAGCTCACTGCAACCTCCAACTGCTAGGC... | CTAATGGTCCTACAGTAAAAAATACAGTCTTCTGATCTGGAATTGAGAGGTTTGGGCTATAAGGTTAGTTCTTGCCCTAAATATTTGGTCAACTTTGGTCAACTCACTTCACTTCTCCGGCCTTCACTCTTCTCATCTCTAAAAGTGAGGTAAGCACTACTCAGCTTCATGTCTCAACAAGCTGGTGGGTCATAACCAGCTATGACTTCTGAGGTAAGTATTTGTTCAACATTTTTTTTTAAAGACGGGGTCTAGCTCTGCTGACCAGGCTAAGGTACAGTGGTATGATCATAGCTCACTGCAACCTCCAACTGCTAGGC... | pathogenic | 269,796 |
A genetic alteration at chromosome 17, position 35107370, in gene RAD51D—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'RAD51D-related_disorder'] | GCTCTGCTGACCAGGCTAAGGTACAGTGGTATGATCATAGCTCACTGCAACCTCCAACTGCTAGGCTCAAGCAATCCTCCCGTCTCAGCCTCTGGAGTCATTAGGATTACAGGTGTGGGCCACCACTCCCAGCTTGTTCAACTATTATATGTTCTAAAGTTTGTAAAAATCATTGACTTTATATATAGTCGTGGGGATGCCCGTGTGAACACGTCATGCTTTGGGGTGAGAGGAAAAGTTTGAGATAAACTATTCTATCTTTAAGGTATCCTCCACATCTAGTCATTTATAAATCAGTGCACCAAATCCTGTCTAAGCAC... | GCTCTGCTGACCAGGCTAAGGTACAGTGGTATGATCATAGCTCACTGCAACCTCCAACTGCTAGGCTCAAGCAATCCTCCCGTCTCAGCCTCTGGAGTCATTAGGATTACAGGTGTGGGCCACCACTCCCAGCTTGTTCAACTATTATATGTTCTAAAGTTTGTAAAAATCATTGACTTTATATATAGTCGTGGGGATGCCCGTGTGAACACGTCATGCTTTGGGGTGAGAGGAAAAGTTTGAGATAAACTATTCTATCTTTAAGGTATCCTCCACATCTAGTCATTTATAAATCAGTGCACCAAATCCTGTCTAAGCAC... | pathogenic | 269,810 |
Clinical classification of chromosome 17, position 35107380, gene RAD51D: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCAGGCTAAGGTACAGTGGTATGATCATAGCTCACTGCAACCTCCAACTGCTAGGCTCAAGCAATCCTCCCGTCTCAGCCTCTGGAGTCATTAGGATTACAGGTGTGGGCCACCACTCCCAGCTTGTTCAACTATTATATGTTCTAAAGTTTGTAAAAATCATTGACTTTATATATAGTCGTGGGGATGCCCGTGTGAACACGTCATGCTTTGGGGTGAGAGGAAAAGTTTGAGATAAACTATTCTATCTTTAAGGTATCCTCCACATCTAGTCATTTATAAATCAGTGCACCAAATCCTGTCTAAGCACCCAACATGAG... | CCAGGCTAAGGTACAGTGGTATGATCATAGCTCACTGCAACCTCCAACTGCTAGGCTCAAGCAATCCTCCCGTCTCAGCCTCTGGAGTCATTAGGATTACAGGTGTGGGCCACCACTCCCAGCTTGTTCAACTATTATATGTTCTAAAGTTTGTAAAAATCATTGACTTTATATATAGTCGTGGGGATGCCCGTGTGAACACGTCATGCTTTGGGGTGAGAGGAAAAGTTTGAGATAAACTATTCTATCTTTAAGGTATCCTCCACATCTAGTCATTTATAAATCAGTGCACCAAATCCTGTCTAAGCACCCAACATGAG... | pathogenic | 269,812 |
Assess the variant on chromosome 17, position 35107384, impacting RAD51D: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | GCTAAGGTACAGTGGTATGATCATAGCTCACTGCAACCTCCAACTGCTAGGCTCAAGCAATCCTCCCGTCTCAGCCTCTGGAGTCATTAGGATTACAGGTGTGGGCCACCACTCCCAGCTTGTTCAACTATTATATGTTCTAAAGTTTGTAAAAATCATTGACTTTATATATAGTCGTGGGGATGCCCGTGTGAACACGTCATGCTTTGGGGTGAGAGGAAAAGTTTGAGATAAACTATTCTATCTTTAAGGTATCCTCCACATCTAGTCATTTATAAATCAGTGCACCAAATCCTGTCTAAGCACCCAACATGAGTAGC... | GCTAAGGTACAGTGGTATGATCATAGCTCACTGCAACCTCCAACTGCTAGGCTCAAGCAATCCTCCCGTCTCAGCCTCTGGAGTCATTAGGATTACAGGTGTGGGCCACCACTCCCAGCTTGTTCAACTATTATATGTTCTAAAGTTTGTAAAAATCATTGACTTTATATATAGTCGTGGGGATGCCCGTGTGAACACGTCATGCTTTGGGGTGAGAGGAAAAGTTTGAGATAAACTATTCTATCTTTAAGGTATCCTCCACATCTAGTCATTTATAAATCAGTGCACCAAATCCTGTCTAAGCACCCAACATGAGTAGC... | pathogenic | 269,813 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 35107395, gene RAD51D: what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | GTGGTATGATCATAGCTCACTGCAACCTCCAACTGCTAGGCTCAAGCAATCCTCCCGTCTCAGCCTCTGGAGTCATTAGGATTACAGGTGTGGGCCACCACTCCCAGCTTGTTCAACTATTATATGTTCTAAAGTTTGTAAAAATCATTGACTTTATATATAGTCGTGGGGATGCCCGTGTGAACACGTCATGCTTTGGGGTGAGAGGAAAAGTTTGAGATAAACTATTCTATCTTTAAGGTATCCTCCACATCTAGTCATTTATAAATCAGTGCACCAAATCCTGTCTAAGCACCCAACATGAGTAGCAAAGTGCCAAC... | GTGGTATGATCATAGCTCACTGCAACCTCCAACTGCTAGGCTCAAGCAATCCTCCCGTCTCAGCCTCTGGAGTCATTAGGATTACAGGTGTGGGCCACCACTCCCAGCTTGTTCAACTATTATATGTTCTAAAGTTTGTAAAAATCATTGACTTTATATATAGTCGTGGGGATGCCCGTGTGAACACGTCATGCTTTGGGGTGAGAGGAAAAGTTTGAGATAAACTATTCTATCTTTAAGGTATCCTCCACATCTAGTCATTTATAAATCAGTGCACCAAATCCTGTCTAAGCACCCAACATGAGTAGCAAAGTGCCAAC... | pathogenic | 269,816 |
Variant chromosome 17, position 35107415, gene RAD51D: benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4'] | TGCAACCTCCAACTGCTAGGCTCAAGCAATCCTCCCGTCTCAGCCTCTGGAGTCATTAGGATTACAGGTGTGGGCCACCACTCCCAGCTTGTTCAACTATTATATGTTCTAAAGTTTGTAAAAATCATTGACTTTATATATAGTCGTGGGGATGCCCGTGTGAACACGTCATGCTTTGGGGTGAGAGGAAAAGTTTGAGATAAACTATTCTATCTTTAAGGTATCCTCCACATCTAGTCATTTATAAATCAGTGCACCAAATCCTGTCTAAGCACCCAACATGAGTAGCAAAGTGCCAACCCAAATGCCATTCTAAATCC... | TGCAACCTCCAACTGCTAGGCTCAAGCAATCCTCCCGTCTCAGCCTCTGGAGTCATTAGGATTACAGGTGTGGGCCACCACTCCCAGCTTGTTCAACTATTATATGTTCTAAAGTTTGTAAAAATCATTGACTTTATATATAGTCGTGGGGATGCCCGTGTGAACACGTCATGCTTTGGGGTGAGAGGAAAAGTTTGAGATAAACTATTCTATCTTTAAGGTATCCTCCACATCTAGTCATTTATAAATCAGTGCACCAAATCCTGTCTAAGCACCCAACATGAGTAGCAAAGTGCCAACCCAAATGCCATTCTAAATCC... | pathogenic | 269,819 |
The mutation impacting RAD51D on chromosome 17 at position 35107423: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | CCAACTGCTAGGCTCAAGCAATCCTCCCGTCTCAGCCTCTGGAGTCATTAGGATTACAGGTGTGGGCCACCACTCCCAGCTTGTTCAACTATTATATGTTCTAAAGTTTGTAAAAATCATTGACTTTATATATAGTCGTGGGGATGCCCGTGTGAACACGTCATGCTTTGGGGTGAGAGGAAAAGTTTGAGATAAACTATTCTATCTTTAAGGTATCCTCCACATCTAGTCATTTATAAATCAGTGCACCAAATCCTGTCTAAGCACCCAACATGAGTAGCAAAGTGCCAACCCAAATGCCATTCTAAATCCTTCCCATT... | CCAACTGCTAGGCTCAAGCAATCCTCCCGTCTCAGCCTCTGGAGTCATTAGGATTACAGGTGTGGGCCACCACTCCCAGCTTGTTCAACTATTATATGTTCTAAAGTTTGTAAAAATCATTGACTTTATATATAGTCGTGGGGATGCCCGTGTGAACACGTCATGCTTTGGGGTGAGAGGAAAAGTTTGAGATAAACTATTCTATCTTTAAGGTATCCTCCACATCTAGTCATTTATAAATCAGTGCACCAAATCCTGTCTAAGCACCCAACATGAGTAGCAAAGTGCCAACCCAAATGCCATTCTAAATCCTTCCCATT... | pathogenic | 269,820 |
Chromosome 17, position 35107430, gene RAD51D: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | CTAGGCTCAAGCAATCCTCCCGTCTCAGCCTCTGGAGTCATTAGGATTACAGGTGTGGGCCACCACTCCCAGCTTGTTCAACTATTATATGTTCTAAAGTTTGTAAAAATCATTGACTTTATATATAGTCGTGGGGATGCCCGTGTGAACACGTCATGCTTTGGGGTGAGAGGAAAAGTTTGAGATAAACTATTCTATCTTTAAGGTATCCTCCACATCTAGTCATTTATAAATCAGTGCACCAAATCCTGTCTAAGCACCCAACATGAGTAGCAAAGTGCCAACCCAAATGCCATTCTAAATCCTTCCCATTAACATGA... | CTAGGCTCAAGCAATCCTCCCGTCTCAGCCTCTGGAGTCATTAGGATTACAGGTGTGGGCCACCACTCCCAGCTTGTTCAACTATTATATGTTCTAAAGTTTGTAAAAATCATTGACTTTATATATAGTCGTGGGGATGCCCGTGTGAACACGTCATGCTTTGGGGTGAGAGGAAAAGTTTGAGATAAACTATTCTATCTTTAAGGTATCCTCCACATCTAGTCATTTATAAATCAGTGCACCAAATCCTGTCTAAGCACCCAACATGAGTAGCAAAGTGCCAACCCAAATGCCATTCTAAATCCTTCCCATTAACATGA... | pathogenic | 269,821 |
Considering the genetic mutation at chromosome 17, position 35107437, impacting RAD51D: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | CAAGCAATCCTCCCGTCTCAGCCTCTGGAGTCATTAGGATTACAGGTGTGGGCCACCACTCCCAGCTTGTTCAACTATTATATGTTCTAAAGTTTGTAAAAATCATTGACTTTATATATAGTCGTGGGGATGCCCGTGTGAACACGTCATGCTTTGGGGTGAGAGGAAAAGTTTGAGATAAACTATTCTATCTTTAAGGTATCCTCCACATCTAGTCATTTATAAATCAGTGCACCAAATCCTGTCTAAGCACCCAACATGAGTAGCAAAGTGCCAACCCAAATGCCATTCTAAATCCTTCCCATTAACATGACTCTGAA... | CAAGCAATCCTCCCGTCTCAGCCTCTGGAGTCATTAGGATTACAGGTGTGGGCCACCACTCCCAGCTTGTTCAACTATTATATGTTCTAAAGTTTGTAAAAATCATTGACTTTATATATAGTCGTGGGGATGCCCGTGTGAACACGTCATGCTTTGGGGTGAGAGGAAAAGTTTGAGATAAACTATTCTATCTTTAAGGTATCCTCCACATCTAGTCATTTATAAATCAGTGCACCAAATCCTGTCTAAGCACCCAACATGAGTAGCAAAGTGCCAACCCAAATGCCATTCTAAATCCTTCCCATTAACATGACTCTGAA... | pathogenic | 269,825 |
The mutation in gene RAD51D at chromosome 17, position 35107439—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Gastric_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | AGCAATCCTCCCGTCTCAGCCTCTGGAGTCATTAGGATTACAGGTGTGGGCCACCACTCCCAGCTTGTTCAACTATTATATGTTCTAAAGTTTGTAAAAATCATTGACTTTATATATAGTCGTGGGGATGCCCGTGTGAACACGTCATGCTTTGGGGTGAGAGGAAAAGTTTGAGATAAACTATTCTATCTTTAAGGTATCCTCCACATCTAGTCATTTATAAATCAGTGCACCAAATCCTGTCTAAGCACCCAACATGAGTAGCAAAGTGCCAACCCAAATGCCATTCTAAATCCTTCCCATTAACATGACTCTGAATG... | AGCAATCCTCCCGTCTCAGCCTCTGGAGTCATTAGGATTACAGGTGTGGGCCACCACTCCCAGCTTGTTCAACTATTATATGTTCTAAAGTTTGTAAAAATCATTGACTTTATATATAGTCGTGGGGATGCCCGTGTGAACACGTCATGCTTTGGGGTGAGAGGAAAAGTTTGAGATAAACTATTCTATCTTTAAGGTATCCTCCACATCTAGTCATTTATAAATCAGTGCACCAAATCCTGTCTAAGCACCCAACATGAGTAGCAAAGTGCCAACCCAAATGCCATTCTAAATCCTTCCCATTAACATGACTCTGAATG... | pathogenic | 269,826 |
Clinical classification of chromosome 17, position 35107460, gene RAD51D: benign or pathogenic? Disease(s) if pathogenic? | benign | TCTGGAGTCATTAGGATTACAGGTGTGGGCCACCACTCCCAGCTTGTTCAACTATTATATGTTCTAAAGTTTGTAAAAATCATTGACTTTATATATAGTCGTGGGGATGCCCGTGTGAACACGTCATGCTTTGGGGTGAGAGGAAAAGTTTGAGATAAACTATTCTATCTTTAAGGTATCCTCCACATCTAGTCATTTATAAATCAGTGCACCAAATCCTGTCTAAGCACCCAACATGAGTAGCAAAGTGCCAACCCAAATGCCATTCTAAATCCTTCCCATTAACATGACTCTGAATGTGTTCAGCGACTGGGCAGAAA... | TCTGGAGTCATTAGGATTACAGGTGTGGGCCACCACTCCCAGCTTGTTCAACTATTATATGTTCTAAAGTTTGTAAAAATCATTGACTTTATATATAGTCGTGGGGATGCCCGTGTGAACACGTCATGCTTTGGGGTGAGAGGAAAAGTTTGAGATAAACTATTCTATCTTTAAGGTATCCTCCACATCTAGTCATTTATAAATCAGTGCACCAAATCCTGTCTAAGCACCCAACATGAGTAGCAAAGTGCCAACCCAAATGCCATTCTAAATCCTTCCCATTAACATGACTCTGAATGTGTTCAGCGACTGGGCAGAAA... | benign | 269,832 |
Variant in gene RAD51D, located at chromosome 17 position 35117045: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TAAGGTATTCCCAAATCCACCTTCCAGCCAACTTCTCACCTGAGTTTCCATTCCGTGCCTCTCCGACTGCCCAGAGAACCTTCCTACCAATATGTCCCCATCACCTTTAACTCCGCATGTCAACAGGGAGAGACCCCTGTCTTGCCCCATGAAGCAGAAGTACACCTGGGTTTTACCACTGCCTAGAATACAGGTGATTTCTGGGACTTATCCTCTGCCTTTCCCTCTGAACTGCCTTTTAGCCATTCTTTCAGTCATCCATTCACACACCACTTCAATGCCTCATATTTCCTGACAGTCTTATTCTAAAATGAGGGGAC... | TAAGGTATTCCCAAATCCACCTTCCAGCCAACTTCTCACCTGAGTTTCCATTCCGTGCCTCTCCGACTGCCCAGAGAACCTTCCTACCAATATGTCCCCATCACCTTTAACTCCGCATGTCAACAGGGAGAGACCCCTGTCTTGCCCCATGAAGCAGAAGTACACCTGGGTTTTACCACTGCCTAGAATACAGGTGATTTCTGGGACTTATCCTCTGCCTTTCCCTCTGAACTGCCTTTTAGCCATTCTTTCAGTCATCCATTCACACACCACTTCAATGCCTCATATTTCCTGACAGTCTTATTCTAAAATGAGGGGAC... | benign | 269,840 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 35118480, gene RAD51D. What disease(s) is it linked to if pathogenic? | benign | GTCATTTAACCTGAGTCCCAATTTCTTCACCTATAGAATGATGATTTATTTTTATTTTATTTTATTTTATTTTATTTTTTTGAGATGGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCCGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATATTTTGTACTTTTAGTAGAGACGGGGTTTTACCGTGTTAGCCAGGACAGTCTCGATTTCCTGACCTCATGATCCGCCCACCTCAGCCTC... | GTCATTTAACCTGAGTCCCAATTTCTTCACCTATAGAATGATGATTTATTTTTATTTTATTTTATTTTATTTTATTTTTTTGAGATGGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCCGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATATTTTGTACTTTTAGTAGAGACGGGGTTTTACCGTGTTAGCCAGGACAGTCTCGATTTCCTGACCTCATGATCCGCCCACCTCAGCCTC... | benign | 269,841 |
Gene RAD51D variant at chromosome position 35118488 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | ACCTGAGTCCCAATTTCTTCACCTATAGAATGATGATTTATTTTTATTTTATTTTATTTTATTTTATTTTTTTGAGATGGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCCGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATATTTTGTACTTTTAGTAGAGACGGGGTTTTACCGTGTTAGCCAGGACAGTCTCGATTTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTG... | ACCTGAGTCCCAATTTCTTCACCTATAGAATGATGATTTATTTTTATTTTATTTTATTTTATTTTATTTTTTTGAGATGGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCCGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATATTTTGTACTTTTAGTAGAGACGGGGTTTTACCGTGTTAGCCAGGACAGTCTCGATTTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTG... | benign | 269,843 |
Chromosome 17, position 35118534, gene RAD51D: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | TTTTATTTTATTTTATTTTATTTTTTTGAGATGGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCCGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATATTTTGTACTTTTAGTAGAGACGGGGTTTTACCGTGTTAGCCAGGACAGTCTCGATTTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGTGATCACAGGCGTGAGCCACTGCGCCCGGCCTAGAATGATGAT... | TTTTATTTTATTTTATTTTATTTTTTTGAGATGGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCCGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATATTTTGTACTTTTAGTAGAGACGGGGTTTTACCGTGTTAGCCAGGACAGTCTCGATTTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGTGATCACAGGCGTGAGCCACTGCGCCCGGCCTAGAATGATGAT... | pathogenic | 269,850 |
Variant in RAD51D, chromosome 17, position 35118540—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | TTTATTTTATTTTATTTTTTTGAGATGGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCCGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATATTTTGTACTTTTAGTAGAGACGGGGTTTTACCGTGTTAGCCAGGACAGTCTCGATTTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGTGATCACAGGCGTGAGCCACTGCGCCCGGCCTAGAATGATGATTTAAAC... | TTTATTTTATTTTATTTTTTTGAGATGGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCCGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATATTTTGTACTTTTAGTAGAGACGGGGTTTTACCGTGTTAGCCAGGACAGTCTCGATTTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGTGATCACAGGCGTGAGCCACTGCGCCCGGCCTAGAATGATGATTTAAAC... | pathogenic | 269,852 |
Regarding the variant at chromosome 17 and position 35118545, affecting gene RAD51D: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4'] | TTTATTTTATTTTTTTGAGATGGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCCGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATATTTTGTACTTTTAGTAGAGACGGGGTTTTACCGTGTTAGCCAGGACAGTCTCGATTTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGTGATCACAGGCGTGAGCCACTGCGCCCGGCCTAGAATGATGATTTAAACAGTAA... | TTTATTTTATTTTTTTGAGATGGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCCGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATATTTTGTACTTTTAGTAGAGACGGGGTTTTACCGTGTTAGCCAGGACAGTCTCGATTTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGTGATCACAGGCGTGAGCCACTGCGCCCGGCCTAGAATGATGATTTAAACAGTAA... | pathogenic | 269,855 |
The mutation impacting RAD51D on chromosome 17 at position 35118563: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | GATGGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCCGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATATTTTGTACTTTTAGTAGAGACGGGGTTTTACCGTGTTAGCCAGGACAGTCTCGATTTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGTGATCACAGGCGTGAGCCACTGCGCCCGGCCTAGAATGATGATTTAAACAGTAACATGCTCATTGGTGGTTG... | GATGGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCCGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATATTTTGTACTTTTAGTAGAGACGGGGTTTTACCGTGTTAGCCAGGACAGTCTCGATTTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGTGATCACAGGCGTGAGCCACTGCGCCCGGCCTAGAATGATGATTTAAACAGTAACATGCTCATTGGTGGTTG... | pathogenic | 269,864 |
Evaluate if the mutation on chromosome 17 at position 35118597 in RAD51D is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4'] | CAGTGGTGCGATCTCCGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATATTTTGTACTTTTAGTAGAGACGGGGTTTTACCGTGTTAGCCAGGACAGTCTCGATTTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGTGATCACAGGCGTGAGCCACTGCGCCCGGCCTAGAATGATGATTTAAACAGTAACATGCTCATTGGTGGTTGTGACGAATAAATGAAATAATGTACCGTGAAGTGC... | CAGTGGTGCGATCTCCGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATATTTTGTACTTTTAGTAGAGACGGGGTTTTACCGTGTTAGCCAGGACAGTCTCGATTTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGTGATCACAGGCGTGAGCCACTGCGCCCGGCCTAGAATGATGATTTAAACAGTAACATGCTCATTGGTGGTTGTGACGAATAAATGAAATAATGTACCGTGAAGTGC... | pathogenic | 269,877 |
Variant in gene RAD51D, located at chromosome 17 position 35118615: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4'] | TCACTGCAAGCTCCGCTTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATATTTTGTACTTTTAGTAGAGACGGGGTTTTACCGTGTTAGCCAGGACAGTCTCGATTTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGTGATCACAGGCGTGAGCCACTGCGCCCGGCCTAGAATGATGATTTAAACAGTAACATGCTCATTGGTGGTTGTGACGAATAAATGAAATAATGTACCGTGAAGTGCTGACCGCAGTGCCTCGTT... | TCACTGCAAGCTCCGCTTCCCGGGTTCATGCTATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATATTTTGTACTTTTAGTAGAGACGGGGTTTTACCGTGTTAGCCAGGACAGTCTCGATTTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGTGATCACAGGCGTGAGCCACTGCGCCCGGCCTAGAATGATGATTTAAACAGTAACATGCTCATTGGTGGTTGTGACGAATAAATGAAATAATGTACCGTGAAGTGCTGACCGCAGTGCCTCGTT... | pathogenic | 269,880 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 35118633, gene RAD51D. What disease(s) is it linked to if pathogenic? | benign | CCCGGGTTCATGCTATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATATTTTGTACTTTTAGTAGAGACGGGGTTTTACCGTGTTAGCCAGGACAGTCTCGATTTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGTGATCACAGGCGTGAGCCACTGCGCCCGGCCTAGAATGATGATTTAAACAGTAACATGCTCATTGGTGGTTGTGACGAATAAATGAAATAATGTACCGTGAAGTGCTGACCGCAGTGCCTCGTTCATCGAAAGCATTCAGCG... | CCCGGGTTCATGCTATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATATTTTGTACTTTTAGTAGAGACGGGGTTTTACCGTGTTAGCCAGGACAGTCTCGATTTCCTGACCTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGTGATCACAGGCGTGAGCCACTGCGCCCGGCCTAGAATGATGATTTAAACAGTAACATGCTCATTGGTGGTTGTGACGAATAAATGAAATAATGTACCGTGAAGTGCTGACCGCAGTGCCTCGTTCATCGAAAGCATTCAGCG... | benign | 269,884 |
The genetic variant at chromosome 17, position 35119086, affecting gene RAD51D: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Hereditary_cancer-predisposing_syndrome'] | CTGTTGGATTTATAAACTCCCTAAGCCCAAGGCCAATCGGCTTCCTGTTCACCACTCCCTCCTTACCGTTGCCTCCCTCGGTGCTTACAGCTCTCTTGTATTCACTTGATTTTCCCCTACACCCAACTAGAGGCCTTAAGGGCAGGGGCCTTGCCTCATTCGTGTATGTATCATCTGCACATACCAAGCACCCAGCAGGCCCTTAGCCAGTGCTTGATGGATCACAGACTCAGACCCCCAACCAGGGAAAGCAAGCACCACACTGCATGAACCCTGCCAAGAGAATGTGTTAAGGAAACAGAAAGGGCCACACCAATCCA... | CTGTTGGATTTATAAACTCCCTAAGCCCAAGGCCAATCGGCTTCCTGTTCACCACTCCCTCCTTACCGTTGCCTCCCTCGGTGCTTACAGCTCTCTTGTATTCACTTGATTTTCCCCTACACCCAACTAGAGGCCTTAAGGGCAGGGGCCTTGCCTCATTCGTGTATGTATCATCTGCACATACCAAGCACCCAGCAGGCCCTTAGCCAGTGCTTGATGGATCACAGACTCAGACCCCCAACCAGGGAAAGCAAGCACCACACTGCATGAACCCTGCCAAGAGAATGTGTTAAGGAAACAGAAAGGGCCACACCAATCCA... | pathogenic | 269,889 |
Benign or pathogenic: chromosome 17, position 35119109, gene RAD51D variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_4', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | AGCCCAAGGCCAATCGGCTTCCTGTTCACCACTCCCTCCTTACCGTTGCCTCCCTCGGTGCTTACAGCTCTCTTGTATTCACTTGATTTTCCCCTACACCCAACTAGAGGCCTTAAGGGCAGGGGCCTTGCCTCATTCGTGTATGTATCATCTGCACATACCAAGCACCCAGCAGGCCCTTAGCCAGTGCTTGATGGATCACAGACTCAGACCCCCAACCAGGGAAAGCAAGCACCACACTGCATGAACCCTGCCAAGAGAATGTGTTAAGGAAACAGAAAGGGCCACACCAATCCAAAGACCTTTATGGTGGCAGTTAT... | AGCCCAAGGCCAATCGGCTTCCTGTTCACCACTCCCTCCTTACCGTTGCCTCCCTCGGTGCTTACAGCTCTCTTGTATTCACTTGATTTTCCCCTACACCCAACTAGAGGCCTTAAGGGCAGGGGCCTTGCCTCATTCGTGTATGTATCATCTGCACATACCAAGCACCCAGCAGGCCCTTAGCCAGTGCTTGATGGATCACAGACTCAGACCCCCAACCAGGGAAAGCAAGCACCACACTGCATGAACCCTGCCAAGAGAATGTGTTAAGGAAACAGAAAGGGCCACACCAATCCAAAGACCTTTATGGTGGCAGTTAT... | pathogenic | 269,893 |
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