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 |
|---|---|---|---|---|---|
Chromosome 2, position 47480759, gene MSH2 (mutS homolog 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | ACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCA... | ACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCA... | pathogenic | 35,055 |
Variant chromosome 2, position 47480759, gene MSH2 (mutS homolog 2): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | ACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCA... | ACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCA... | pathogenic | 35,056 |
Variant at chromosome position 47480759, chromosome 2, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | ACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCA... | ACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCA... | pathogenic | 35,057 |
For chromosome 2, position 47480762, gene MSH2 (mutS homolog 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome', 'Lynch_syndrome_1'] | CATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAA... | CATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAA... | pathogenic | 35,058 |
A genetic variant at chromosome 2, position 47480773, affecting gene MSH2 (mutS homolog 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | ATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACT... | ATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACT... | pathogenic | 35,062 |
Chromosome 2, position 47480779, gene MSH2 (mutS homolog 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAA... | AGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAA... | pathogenic | 35,064 |
Clinical classification of chromosome 2, position 47480788, gene MSH2 (mutS homolog 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | TATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCAT... | TATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCAT... | pathogenic | 35,070 |
Is the genetic mutation found on chromosome 2 at position 47480796, within the gene MSH2 (mutS homolog 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | CTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCAT... | CTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCAT... | pathogenic | 35,075 |
The chromosome 2, position 47480812 genetic variant in gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | ATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCA... | ATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCA... | pathogenic | 35,083 |
Mutation found at chromosome 2 position 47480820, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTA... | CTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTA... | pathogenic | 35,088 |
Is the genetic variant on chromosome 2, position 47480824, gene MSH2 (mutS homolog 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | TGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTT... | TGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTT... | pathogenic | 35,092 |
Does the variant impacting MSH2 (mutS homolog 2) on chromosome 2, position 47480827, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Lynch_syndrome'] | CCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTC... | CCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTC... | pathogenic | 35,094 |
Does the genetic variant at chromosome 2, position 47480829, impacting gene MSH2 (mutS homolog 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTT... | AGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTT... | pathogenic | 35,095 |
Gene MSH2 (mutS homolog 2) variant at chromosome 2, position 47480865—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1', 'likely other unspecified diseases'] | CCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTTGTTGAATTAGGATAACAAACAATATGCTTTCAAGTT... | CCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTTGTTGAATTAGGATAACAAACAATATGCTTTCAAGTT... | pathogenic | 35,109 |
Is the genetic change at chromosome 2, position 47480878, within gene MSH2 (mutS homolog 2) benign or pathogenic? Name the disease(s) if pathogenic. | benign | AGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTTGTTGAATTAGGATAACAAACAATATGCTTTCAAGTTCCAAAGTTCTAGC... | AGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTTGTTGAATTAGGATAACAAACAATATGCTTTCAAGTTCCAAAGTTCTAGC... | benign | 35,119 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 47480879, gene MSH2 (mutS homolog 2): what disease(s) if pathogenic? | benign | GCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTTGTTGAATTAGGATAACAAACAATATGCTTTCAAGTTCCAAAGTTCTAGCT... | GCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTTGTTGAATTAGGATAACAAACAATATGCTTTCAAGTTCCAAAGTTCTAGCT... | benign | 35,122 |
The mutation impacting MSH2 (mutS homolog 2) on chromosome 2 at position 47480879: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | GCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTTGTTGAATTAGGATAACAAACAATATGCTTTCAAGTTCCAAAGTTCTAGCT... | GCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCAGAATTATCTGTACTCTTGAACATCACCATGGAGGCATTTTCTGCTACCTCCCATGGCAGTATGTTTTCTTGTTGAATTAGGATAACAAACAATATGCTTTCAAGTTCCAAAGTTCTAGCT... | benign | 35,123 |
Clinical significance of chromosome 2, position 47482762, gene MSH2 (mutS homolog 2): benign or pathogenic? Name the disease(s) if pathogenic. | benign | TTGGGATTCATGTTGCAGAGCTTGCTAATTTCCCTAAGCATGTAATAGAGTGTGCTAAACAGAAAGCCCTGGAACTTGAGGAGTTTCAGTATATTGGAGAATCGCAAGGATATGATATCATGGAACCAGCAGCAAAGAAGTGCTATCTGGAAAGAGAGGTTTGTCAGTTTGTTTTCATAGTTTAACTTAGCTTCTCTATTATTACATAAACAGGACACTAAGATGAAGGTTTTTTGTTGTTGTTTGTTTTCCTCTGTGTTTCTAGTGCTTATTTTTTAATCAGTTTTTTTGATGGCAAAGAATCTATCTCTGTGTTATTT... | TTGGGATTCATGTTGCAGAGCTTGCTAATTTCCCTAAGCATGTAATAGAGTGTGCTAAACAGAAAGCCCTGGAACTTGAGGAGTTTCAGTATATTGGAGAATCGCAAGGATATGATATCATGGAACCAGCAGCAAAGAAGTGCTATCTGGAAAGAGAGGTTTGTCAGTTTGTTTTCATAGTTTAACTTAGCTTCTCTATTATTACATAAACAGGACACTAAGATGAAGGTTTTTTGTTGTTGTTTGTTTTCCTCTGTGTTTCTAGTGCTTATTTTTTAATCAGTTTTTTTGATGGCAAAGAATCTATCTCTGTGTTATTT... | benign | 35,133 |
For chromosome 2, position 47482780, gene MSH2 (mutS homolog 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AGCTTGCTAATTTCCCTAAGCATGTAATAGAGTGTGCTAAACAGAAAGCCCTGGAACTTGAGGAGTTTCAGTATATTGGAGAATCGCAAGGATATGATATCATGGAACCAGCAGCAAAGAAGTGCTATCTGGAAAGAGAGGTTTGTCAGTTTGTTTTCATAGTTTAACTTAGCTTCTCTATTATTACATAAACAGGACACTAAGATGAAGGTTTTTTGTTGTTGTTTGTTTTCCTCTGTGTTTCTAGTGCTTATTTTTTAATCAGTTTTTTTGATGGCAAAGAATCTATCTCTGTGTTATTTTGATTTCTGCAGTATATA... | AGCTTGCTAATTTCCCTAAGCATGTAATAGAGTGTGCTAAACAGAAAGCCCTGGAACTTGAGGAGTTTCAGTATATTGGAGAATCGCAAGGATATGATATCATGGAACCAGCAGCAAAGAAGTGCTATCTGGAAAGAGAGGTTTGTCAGTTTGTTTTCATAGTTTAACTTAGCTTCTCTATTATTACATAAACAGGACACTAAGATGAAGGTTTTTTGTTGTTGTTTGTTTTCCTCTGTGTTTCTAGTGCTTATTTTTTAATCAGTTTTTTTGATGGCAAAGAATCTATCTCTGTGTTATTTTGATTTCTGCAGTATATA... | pathogenic | 35,145 |
The genetic variant at chromosome 2, position 47482785, affecting gene MSH2 (mutS homolog 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | GCTAATTTCCCTAAGCATGTAATAGAGTGTGCTAAACAGAAAGCCCTGGAACTTGAGGAGTTTCAGTATATTGGAGAATCGCAAGGATATGATATCATGGAACCAGCAGCAAAGAAGTGCTATCTGGAAAGAGAGGTTTGTCAGTTTGTTTTCATAGTTTAACTTAGCTTCTCTATTATTACATAAACAGGACACTAAGATGAAGGTTTTTTGTTGTTGTTTGTTTTCCTCTGTGTTTCTAGTGCTTATTTTTTAATCAGTTTTTTTGATGGCAAAGAATCTATCTCTGTGTTATTTTGATTTCTGCAGTATATACATCT... | GCTAATTTCCCTAAGCATGTAATAGAGTGTGCTAAACAGAAAGCCCTGGAACTTGAGGAGTTTCAGTATATTGGAGAATCGCAAGGATATGATATCATGGAACCAGCAGCAAAGAAGTGCTATCTGGAAAGAGAGGTTTGTCAGTTTGTTTTCATAGTTTAACTTAGCTTCTCTATTATTACATAAACAGGACACTAAGATGAAGGTTTTTTGTTGTTGTTTGTTTTCCTCTGTGTTTCTAGTGCTTATTTTTTAATCAGTTTTTTTGATGGCAAAGAATCTATCTCTGTGTTATTTTGATTTCTGCAGTATATACATCT... | pathogenic | 35,146 |
For chromosome 2, position 47482785, gene MSH2 (mutS homolog 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | GCTAATTTCCCTAAGCATGTAATAGAGTGTGCTAAACAGAAAGCCCTGGAACTTGAGGAGTTTCAGTATATTGGAGAATCGCAAGGATATGATATCATGGAACCAGCAGCAAAGAAGTGCTATCTGGAAAGAGAGGTTTGTCAGTTTGTTTTCATAGTTTAACTTAGCTTCTCTATTATTACATAAACAGGACACTAAGATGAAGGTTTTTTGTTGTTGTTTGTTTTCCTCTGTGTTTCTAGTGCTTATTTTTTAATCAGTTTTTTTGATGGCAAAGAATCTATCTCTGTGTTATTTTGATTTCTGCAGTATATACATCT... | GCTAATTTCCCTAAGCATGTAATAGAGTGTGCTAAACAGAAAGCCCTGGAACTTGAGGAGTTTCAGTATATTGGAGAATCGCAAGGATATGATATCATGGAACCAGCAGCAAAGAAGTGCTATCTGGAAAGAGAGGTTTGTCAGTTTGTTTTCATAGTTTAACTTAGCTTCTCTATTATTACATAAACAGGACACTAAGATGAAGGTTTTTTGTTGTTGTTTGTTTTCCTCTGTGTTTCTAGTGCTTATTTTTTAATCAGTTTTTTTGATGGCAAAGAATCTATCTCTGTGTTATTTTGATTTCTGCAGTATATACATCT... | pathogenic | 35,148 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 47482804, gene MSH2 (mutS homolog 2): what disease(s) if pathogenic? | pathogenic; ['Carcinoma_of_colon', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | TAATAGAGTGTGCTAAACAGAAAGCCCTGGAACTTGAGGAGTTTCAGTATATTGGAGAATCGCAAGGATATGATATCATGGAACCAGCAGCAAAGAAGTGCTATCTGGAAAGAGAGGTTTGTCAGTTTGTTTTCATAGTTTAACTTAGCTTCTCTATTATTACATAAACAGGACACTAAGATGAAGGTTTTTTGTTGTTGTTTGTTTTCCTCTGTGTTTCTAGTGCTTATTTTTTAATCAGTTTTTTTGATGGCAAAGAATCTATCTCTGTGTTATTTTGATTTCTGCAGTATATACATCTGCATGATCAATATTCGATT... | TAATAGAGTGTGCTAAACAGAAAGCCCTGGAACTTGAGGAGTTTCAGTATATTGGAGAATCGCAAGGATATGATATCATGGAACCAGCAGCAAAGAAGTGCTATCTGGAAAGAGAGGTTTGTCAGTTTGTTTTCATAGTTTAACTTAGCTTCTCTATTATTACATAAACAGGACACTAAGATGAAGGTTTTTTGTTGTTGTTTGTTTTCCTCTGTGTTTCTAGTGCTTATTTTTTAATCAGTTTTTTTGATGGCAAAGAATCTATCTCTGTGTTATTTTGATTTCTGCAGTATATACATCTGCATGATCAATATTCGATT... | pathogenic | 35,152 |
Gene MSH2 (mutS homolog 2) variant at chromosome position 47482821 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1', 'MSH2-related_disorder'] | CAGAAAGCCCTGGAACTTGAGGAGTTTCAGTATATTGGAGAATCGCAAGGATATGATATCATGGAACCAGCAGCAAAGAAGTGCTATCTGGAAAGAGAGGTTTGTCAGTTTGTTTTCATAGTTTAACTTAGCTTCTCTATTATTACATAAACAGGACACTAAGATGAAGGTTTTTTGTTGTTGTTTGTTTTCCTCTGTGTTTCTAGTGCTTATTTTTTAATCAGTTTTTTTGATGGCAAAGAATCTATCTCTGTGTTATTTTGATTTCTGCAGTATATACATCTGCATGATCAATATTCGATTTCAAGTACCAAAGTAGG... | CAGAAAGCCCTGGAACTTGAGGAGTTTCAGTATATTGGAGAATCGCAAGGATATGATATCATGGAACCAGCAGCAAAGAAGTGCTATCTGGAAAGAGAGGTTTGTCAGTTTGTTTTCATAGTTTAACTTAGCTTCTCTATTATTACATAAACAGGACACTAAGATGAAGGTTTTTTGTTGTTGTTTGTTTTCCTCTGTGTTTCTAGTGCTTATTTTTTAATCAGTTTTTTTGATGGCAAAGAATCTATCTCTGTGTTATTTTGATTTCTGCAGTATATACATCTGCATGATCAATATTCGATTTCAAGTACCAAAGTAGG... | pathogenic | 35,159 |
Is the chromosome 2, position 47783223 variant in MSH6 (mutS homolog 6) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GTAAACTCATTTGGTAGCAAATTTTGACCTGAGGCTATTTATAGTCTATATTCTGTATTCTTTCTACTTAGTATGAATAAGCATGTAAGTTTTACTGCATGTTTGATTTCAGCATGTTCCCCCAGACTCTCTGGGGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTC... | GTAAACTCATTTGGTAGCAAATTTTGACCTGAGGCTATTTATAGTCTATATTCTGTATTCTTTCTACTTAGTATGAATAAGCATGTAAGTTTTACTGCATGTTTGATTTCAGCATGTTCCCCCAGACTCTCTGGGGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTC... | benign | 35,205 |
Is the variant located on chromosome 2 at position 47783239, gene MSH6 (mutS homolog 6), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | GCAAATTTTGACCTGAGGCTATTTATAGTCTATATTCTGTATTCTTTCTACTTAGTATGAATAAGCATGTAAGTTTTACTGCATGTTTGATTTCAGCATGTTCCCCCAGACTCTCTGGGGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAG... | GCAAATTTTGACCTGAGGCTATTTATAGTCTATATTCTGTATTCTTTCTACTTAGTATGAATAAGCATGTAAGTTTTACTGCATGTTTGATTTCAGCATGTTCCCCCAGACTCTCTGGGGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAG... | pathogenic | 35,210 |
Variant chromosome 2, position 47783265, gene MSH6 (mutS homolog 6): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AGTCTATATTCTGTATTCTTTCTACTTAGTATGAATAAGCATGTAAGTTTTACTGCATGTTTGATTTCAGCATGTTCCCCCAGACTCTCTGGGGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGC... | AGTCTATATTCTGTATTCTTTCTACTTAGTATGAATAAGCATGTAAGTTTTACTGCATGTTTGATTTCAGCATGTTCCCCCAGACTCTCTGGGGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGC... | pathogenic | 35,225 |
Benign or pathogenic: chromosome 2, position 47783290, gene MSH6 (mutS homolog 6) variant? Disease(s) if pathogenic? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | TTAGTATGAATAAGCATGTAAGTTTTACTGCATGTTTGATTTCAGCATGTTCCCCCAGACTCTCTGGGGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGC... | TTAGTATGAATAAGCATGTAAGTTTTACTGCATGTTTGATTTCAGCATGTTCCCCCAGACTCTCTGGGGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGC... | pathogenic | 35,236 |
The mutation in gene MSH6 (mutS homolog 6) at chromosome 2, position 47783312—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TTTTACTGCATGTTTGATTTCAGCATGTTCCCCCAGACTCTCTGGGGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCG... | TTTTACTGCATGTTTGATTTCAGCATGTTCCCCCAGACTCTCTGGGGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCG... | pathogenic | 35,246 |
Variant on chromosome 2, at position 47783328, affecting MSH6 (mutS homolog 6): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | ATTTCAGCATGTTCCCCCAGACTCTCTGGGGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTC... | ATTTCAGCATGTTCCCCCAGACTCTCTGGGGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTC... | pathogenic | 35,252 |
Evaluate if the mutation on chromosome 2 at position 47783333 in MSH6 (mutS homolog 6) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AGCATGTTCCCCCAGACTCTCTGGGGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACC... | AGCATGTTCCCCCAGACTCTCTGGGGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACC... | pathogenic | 35,255 |
Is the genetic change at chromosome 2, position 47783342, within gene MSH6 (mutS homolog 6) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | CCCCAGACTCTCTGGGGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCC... | CCCCAGACTCTCTGGGGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCC... | pathogenic | 35,259 |
Evaluate if the mutation on chromosome 2 at position 47783347 in MSH6 (mutS homolog 6) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | GACTCTCTGGGGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGT... | GACTCTCTGGGGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGT... | pathogenic | 35,263 |
Is the variant located on chromosome 2 at position 47783352, gene MSH6 (mutS homolog 6), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | TCTGGGGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTG... | TCTGGGGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTG... | pathogenic | 35,265 |
A genetic variant at chromosome 2, position 47783357, affecting gene MSH6 (mutS homolog 6)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Lynch_syndrome_5'] | GGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACT... | GGGTGTTTACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACT... | pathogenic | 35,270 |
Mutation found at chromosome 2 position 47783364, gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Endometrial_carcinoma', 'Lynch_syndrome_5'] | TACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCG... | TACGTATGCCGGTGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCG... | pathogenic | 35,273 |
Chromosome 2, position 47783376, gene MSH6 (mutS homolog 6): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | TGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACG... | TGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACG... | pathogenic | 35,276 |
Is chromosome 2, position 47783376, gene MSH6 (mutS homolog 6) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | TGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACG... | TGGGGGAAAGAGACCAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACG... | pathogenic | 35,277 |
Chromosome 2, position 47783390, gene MSH6 (mutS homolog 6): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | CAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTT... | CAACTCTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTT... | pathogenic | 35,282 |
Determine whether the variant at chromosome 2, position 47783395, in gene MSH6 (mutS homolog 6) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | CTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTAT... | CTCAAATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTAT... | pathogenic | 35,287 |
Gene MSH6 (mutS homolog 6) variant at chromosome position 47783399 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | AATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTT... | AATATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTT... | pathogenic | 35,290 |
Evaluate if the mutation on chromosome 2 at position 47783401 in MSH6 (mutS homolog 6) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | TATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAG... | TATTATCTCAAACAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAG... | pathogenic | 35,293 |
Is the genetic change at chromosome 2, position 47783413, within gene MSH6 (mutS homolog 6) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome'] | CAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGT... | CAGTTGGTTTCACTGTGCTTGCTTGGGTAGCACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGT... | pathogenic | 35,300 |
Does the variant impacting MSH6 on chromosome 2, position 47783444, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Lynch_syndrome_5'] | ACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCT... | ACATATACCAAAATTGGAATGACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCT... | pathogenic | 35,315 |
Variant chromosome 2, position 47783465, gene MSH6 (mutS homolog 6): benign or pathogenic? Disease(s)? | pathogenic; ['Lynch_syndrome_5'] | ACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCA... | ACCCCTGCACAGGGATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCA... | pathogenic | 35,322 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 47783478, gene MSH6: what disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | GATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCCGCCCCCCC... | GATGAAATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCCGCCCCCCC... | pathogenic | 35,331 |
The genetic variant at chromosome 2, position 47783483, affecting gene MSH6: benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Mismatch_repair_cancer_syndrome_3'] | AATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCCGCCCCCCCCCCGA... | AATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCCGCCCCCCCCCCGA... | pathogenic | 35,334 |
Regarding the variant found on chromosome 2 at position 47783483 in gene MSH6: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Lynch_syndrome_5'] | AATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCCGCCCCCCCCCCGA... | AATGCAAATTCGTGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCCGCCCCCCCCCCGA... | pathogenic | 35,335 |
Is the genetic change at chromosome 2, position 47783495, within gene MSH6 benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | TGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCCGCCCCCCCCCCGAAGTGCCGAGTGC... | TGAAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCCGCCCCCCCCCCGAAGTGCCGAGTGC... | pathogenic | 35,343 |
For chromosome 2, position 47783497, gene MSH6: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | AAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCCGCCCCCCCCCCGAAGTGCCGAGTGCTG... | AAGCATACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCCGCCCCCCCCCCGAAGTGCCGAGTGCTG... | benign | 35,344 |
Determine whether the variant at chromosome 2, position 47783503, in gene MSH6 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | ACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCCGCCCCCCCCCCGAAGTGCCGAGTGCTGGGACTA... | ACTGTATTTTTCTTAGCACATACCACCTTTGGCAATATTCTTTTTTTTTTTTTGAGAGGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGAGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGTGTGCTACCACGCCAGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCCGCCCCCCCCCCGAAGTGCCGAGTGCTGGGACTA... | benign | 35,348 |
Is the genetic change at chromosome 2, position 47790909, within gene MSH6 (mutS homolog 6) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TGCGCCCGGCCCAGCATACTGCTATTTCTTTCTTTCTTTCTTCTTCCTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACGGAGTCTGTCGTCCAGGCTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCT... | TGCGCCCGGCCCAGCATACTGCTATTTCTTTCTTTCTTTCTTCTTCCTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACGGAGTCTGTCGTCCAGGCTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCT... | benign | 35,363 |
The chromosome 2, position 47790926 genetic variant in gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | ACTGCTATTTCTTTCTTTCTTTCTTCTTCCTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACGGAGTCTGTCGTCCAGGCTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATT... | ACTGCTATTTCTTTCTTTCTTTCTTCTTCCTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACGGAGTCTGTCGTCCAGGCTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATT... | pathogenic | 35,371 |
Variant in gene MSH6 (mutS homolog 6), located at chromosome 2 position 47790927: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CTGCTATTTCTTTCTTTCTTTCTTCTTCCTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACGGAGTCTGTCGTCCAGGCTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTA... | CTGCTATTTCTTTCTTTCTTTCTTCTTCCTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACGGAGTCTGTCGTCCAGGCTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTA... | pathogenic | 35,373 |
Evaluate if the mutation on chromosome 2 at position 47790928 in MSH6 (mutS homolog 6) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | TGCTATTTCTTTCTTTCTTTCTTCTTCCTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACGGAGTCTGTCGTCCAGGCTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTAC... | TGCTATTTCTTTCTTTCTTTCTTCTTCCTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACGGAGTCTGTCGTCCAGGCTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTAC... | pathogenic | 35,374 |
Considering the variant on chromosome 2, location 47790954, involving gene MSH6 (mutS homolog 6), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms'] | CCTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACGGAGTCTGTCGTCCAGGCTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCA... | CCTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGACGGAGTCTGTCGTCCAGGCTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCA... | pathogenic | 35,379 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 47790974, gene MSH6 (mutS homolog 6): what disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast'] | TTTTTTTTTTTTTTTTTTTTTTGTGAGACGGAGTCTGTCGTCCAGGCTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGC... | TTTTTTTTTTTTTTTTTTTTTTGTGAGACGGAGTCTGTCGTCCAGGCTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGC... | pathogenic | 35,384 |
The chromosome 2, position 47790978 genetic variant in gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | TTTTTTTTTTTTTTTTTTGTGAGACGGAGTCTGTCGTCCAGGCTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAG... | TTTTTTTTTTTTTTTTTTGTGAGACGGAGTCTGTCGTCCAGGCTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAG... | pathogenic | 35,387 |
Does the variant impacting MSH6 (mutS homolog 6) on chromosome 2, position 47790994, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | TTGTGAGACGGAGTCTGTCGTCCAGGCTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGAT... | TTGTGAGACGGAGTCTGTCGTCCAGGCTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGAT... | pathogenic | 35,393 |
The genetic variant at chromosome 2, position 47791001, affecting gene MSH6 (mutS homolog 6): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome'] | ACGGAGTCTGTCGTCCAGGCTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAA... | ACGGAGTCTGTCGTCCAGGCTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAA... | pathogenic | 35,395 |
Assess the variant on chromosome 2, position 47791008, impacting MSH6 (mutS homolog 6): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | CTGTCGTCCAGGCTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAAT... | CTGTCGTCCAGGCTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAAT... | pathogenic | 35,398 |
A genetic variant on chromosome 2, position 47791015, affects the gene MSH6 (mutS homolog 6). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | CCAGGCTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATAT... | CCAGGCTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATAT... | pathogenic | 35,399 |
Located at chromosome 2 position 47791020, the variant affecting gene MSH6 (mutS homolog 6)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5', 'Ovarian_neoplasm'] | CTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGG... | CTGGAATGCAGTGGCGTTTTCTTGGCTCACTGCAACCTCTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGG... | pathogenic | 35,400 |
Evaluate this variant at chromosome 2, position 47791058, gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Carcinoma_of_colon', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | CTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAAT... | CTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAAT... | pathogenic | 35,411 |
Evaluate this variant at chromosome 2, position 47791058, gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | CTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAAT... | CTGCTGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAAT... | pathogenic | 35,412 |
Clinical classification of chromosome 2, position 47791062, gene MSH6 (mutS homolog 6): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | TGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTT... | TGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTT... | pathogenic | 35,415 |
Classify the chromosome 2 variant at position 47791062 affecting gene MSH6 (mutS homolog 6) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | TGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTT... | TGCCCGGGTTCAAGTGATTCTCCTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTT... | pathogenic | 35,416 |
Is the genetic mutation found on chromosome 2 at position 47791084, within the gene MSH6 (mutS homolog 6), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | CTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTTATGTTTCTAATATTTTATTTCA... | CTGCTTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTTATGTTTCTAATATTTTATTTCA... | pathogenic | 35,419 |
The mutation in gene MSH6 (mutS homolog 6) at chromosome 2, position 47791088—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | TTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTTATGTTTCTAATATTTTATTTCAGAAA... | TTCAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTTATGTTTCTAATATTTTATTTCAGAAA... | pathogenic | 35,420 |
A genetic variant on chromosome 2, position 47791090, affects the gene MSH6 (mutS homolog 6). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTTATGTTTCTAATATTTTATTTCAGAAAGG... | CAGGCTCCCAAGTAGCTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTTATGTTTCTAATATTTTATTTCAGAAAGG... | pathogenic | 35,423 |
Considering the genetic mutation at chromosome 2, position 47791105, impacting MSH6 (mutS homolog 6): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | CTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTTATGTTTCTAATATTTTATTTCAGAAAGGAATTTATTTCAAAAC... | CTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTTATGTTTCTAATATTTTATTTCAGAAAGGAATTTATTTCAAAAC... | pathogenic | 35,427 |
Variant chromosome 2, position 47791105, gene MSH6 (mutS homolog 6): benign or pathogenic? Disease(s)? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | CTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTTATGTTTCTAATATTTTATTTCAGAAAGGAATTTATTTCAAAAC... | CTGGGATTATAGGCCTCTGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTTATGTTTCTAATATTTTATTTCAGAAAGGAATTTATTTCAAAAC... | pathogenic | 35,428 |
A mutation at chromosome position 47791122 on chromosome 2 in gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Lynch_syndrome_5'] | TGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTTATGTTTCTAATATTTTATTTCAGAAAGGAATTTATTTCAAAACTGATAATGGTTGGATCC... | TGCCACTGCACTTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTTATGTTTCTAATATTTTATTTCAGAAAGGAATTTATTTCAAAACTGATAATGGTTGGATCC... | pathogenic | 35,435 |
Located at chromosome 2 position 47791141, the variant affecting gene MSH6 (mutS homolog 6)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTTATGTTTCTAATATTTTATTTCAGAAAGGAATTTATTTCAAAACTGATAATGGTTGGATCCAGCTTTTCACACAAACTTT... | TTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTTATGTTTCTAATATTTTATTTCAGAAAGGAATTTATTTCAAAACTGATAATGGTTGGATCCAGCTTTTCACACAAACTTT... | benign | 35,441 |
Variant in MSH6 (mutS homolog 6), chromosome 2, position 47791142—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTTATGTTTCTAATATTTTATTTCAGAAAGGAATTTATTTCAAAACTGATAATGGTTGGATCCAGCTTTTCACACAAACTTTT... | TTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTTATGTTTCTAATATTTTATTTCAGAAAGGAATTTATTTCAAAACTGATAATGGTTGGATCCAGCTTTTCACACAAACTTTT... | benign | 35,443 |
Determine whether the variant at chromosome 2, position 47791142, in gene MSH6 (mutS homolog 6) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTTATGTTTCTAATATTTTATTTCAGAAAGGAATTTATTTCAAAACTGATAATGGTTGGATCCAGCTTTTCACACAAACTTTT... | TTTTGTATTTTTGGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTTATGTTTCTAATATTTTATTTCAGAAAGGAATTTATTTCAAAACTGATAATGGTTGGATCCAGCTTTTCACACAAACTTTT... | benign | 35,444 |
Determine if the mutation at chromosome 2, position 47791154 in gene MSH6 (mutS homolog 6) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTTATGTTTCTAATATTTTATTTCAGAAAGGAATTTATTTCAAAACTGATAATGGTTGGATCCAGCTTTTCACACAAACTTTTTTTTCCTAGTGA... | GGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTTATGTTTCTAATATTTTATTTCAGAAAGGAATTTATTTCAAAACTGATAATGGTTGGATCCAGCTTTTCACACAAACTTTTTTTTCCTAGTGA... | benign | 35,445 |
Determine whether the variant at chromosome 2, position 47791154, in gene MSH6 (mutS homolog 6) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTTATGTTTCTAATATTTTATTTCAGAAAGGAATTTATTTCAAAACTGATAATGGTTGGATCCAGCTTTTCACACAAACTTTTTTTTCCTAGTGA... | GGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACCTGAGCCACCGCACCCGGCCCATACTGCTATTTCTTAACAGCAGAGAAATTATGTGTCAGATTCTGTAAGTGTAATGGTATATAAAGGATAAAATGATGTTGAAAAACAAAATTTTTTGTTTAAATGCTTATGTTTCTAATATTTTATTTCAGAAAGGAATTTATTTCAAAACTGATAATGGTTGGATCCAGCTTTTCACACAAACTTTTTTTTCCTAGTGA... | benign | 35,446 |
The chromosome 2, position 47795846 genetic variant in gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGTGATTATAGGCGCCCACCACCAGGCCCAGCTGATTTTTGTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGG... | TCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGTGATTATAGGCGCCCACCACCAGGCCCAGCTGATTTTTGTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGG... | benign | 35,452 |
Is the variant located on chromosome 2 at position 47795882, gene MSH6 (mutS homolog 6), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | GATTCTCCTGCCTCTGCCTCCCAAGTAGCTGTGATTATAGGCGCCCACCACCAGGCCCAGCTGATTTTTGTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCC... | GATTCTCCTGCCTCTGCCTCCCAAGTAGCTGTGATTATAGGCGCCCACCACCAGGCCCAGCTGATTTTTGTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCC... | benign | 35,454 |
Is the chromosome 2, position 47795901 variant in MSH6 (mutS homolog 6) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | CCCAAGTAGCTGTGATTATAGGCGCCCACCACCAGGCCCAGCTGATTTTTGTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTC... | CCCAAGTAGCTGTGATTATAGGCGCCCACCACCAGGCCCAGCTGATTTTTGTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTC... | pathogenic | 35,462 |
Variant chromosome 2, position 47795903, gene MSH6 (mutS homolog 6): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | CAAGTAGCTGTGATTATAGGCGCCCACCACCAGGCCCAGCTGATTTTTGTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTC... | CAAGTAGCTGTGATTATAGGCGCCCACCACCAGGCCCAGCTGATTTTTGTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTC... | pathogenic | 35,464 |
Does the variant on chromosome 2 at location 47795903 affecting gene MSH6 (mutS homolog 6) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | CAAGTAGCTGTGATTATAGGCGCCCACCACCAGGCCCAGCTGATTTTTGTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTC... | CAAGTAGCTGTGATTATAGGCGCCCACCACCAGGCCCAGCTGATTTTTGTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTC... | pathogenic | 35,465 |
Gene MSH6 (mutS homolog 6) variant at chromosome 2, position 47795903—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_5'] | CAAGTAGCTGTGATTATAGGCGCCCACCACCAGGCCCAGCTGATTTTTGTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTC... | CAAGTAGCTGTGATTATAGGCGCCCACCACCAGGCCCAGCTGATTTTTGTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTC... | pathogenic | 35,467 |
A mutation at chromosome position 47795906 on chromosome 2 in gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GTAGCTGTGATTATAGGCGCCCACCACCAGGCCCAGCTGATTTTTGTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTAC... | GTAGCTGTGATTATAGGCGCCCACCACCAGGCCCAGCTGATTTTTGTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTAC... | pathogenic | 35,468 |
The chromosome 2, position 47795918 genetic variant in gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | ATAGGCGCCCACCACCAGGCCCAGCTGATTTTTGTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAA... | ATAGGCGCCCACCACCAGGCCCAGCTGATTTTTGTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAA... | pathogenic | 35,474 |
Clinical significance of chromosome 2, position 47795927, gene MSH6 (mutS homolog 6): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | CACCACCAGGCCCAGCTGATTTTTGTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCA... | CACCACCAGGCCCAGCTGATTTTTGTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCA... | pathogenic | 35,478 |
Does the variant on chromosome 2 at location 47795927 affecting gene MSH6 (mutS homolog 6) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | CACCACCAGGCCCAGCTGATTTTTGTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCA... | CACCACCAGGCCCAGCTGATTTTTGTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCA... | pathogenic | 35,479 |
Variant in MSH6 (mutS homolog 6), chromosome 2, position 47795945—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | ATTTTTGTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACACATGCC... | ATTTTTGTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACACATGCC... | pathogenic | 35,484 |
Variant in gene MSH6 (mutS homolog 6), located at chromosome 2 position 47795951: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACACATGCCTGTAAT... | GTATTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACACATGCCTGTAAT... | pathogenic | 35,487 |
Determine whether the variant at chromosome 2, position 47795954, in gene MSH6 (mutS homolog 6) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome', 'Lynch_syndrome_5'] | TTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACACATGCCTGTAATCTC... | TTTTTCAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACACATGCCTGTAATCTC... | pathogenic | 35,488 |
Mutation at chromosome 2, position 47795959, within MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACACATGCCTGTAATCTCAGCTA... | CAGTAGAGTTGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACACATGCCTGTAATCTCAGCTA... | pathogenic | 35,489 |
Clinically, how would you classify the variant at chromosome 2, position 47795968, gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | TGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACACATGCCTGTAATCTCAGCTACTCAGGAGG... | TGAGGTTTCACCACGTTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACACATGCCTGTAATCTCAGCTACTCAGGAGG... | pathogenic | 35,491 |
Does the variant impacting MSH6 (mutS homolog 6) on chromosome 2, position 47795983, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | TTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACACATGCCTGTAATCTCAGCTACTCAGGAGGGTGAGGCAGAATTGC... | TTGTCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACACATGCCTGTAATCTCAGCTACTCAGGAGGGTGAGGCAGAATTGC... | pathogenic | 35,494 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 47796012, gene MSH6 (mutS homolog 6): what disease(s) if pathogenic? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | TTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACACATGCCTGTAATCTCAGCTACTCAGGAGGGTGAGGCAGAATTGCTTGAACCCGGGAGTCAGTTTCTTTTTTCT... | TTAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACACATGCCTGTAATCTCAGCTACTCAGGAGGGTGAGGCAGAATTGCTTGAACCCGGGAGTCAGTTTCTTTTTTCT... | pathogenic | 35,501 |
Is the genetic change at chromosome 2, position 47796019, within gene MSH6 (mutS homolog 6) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | ATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACACATGCCTGTAATCTCAGCTACTCAGGAGGGTGAGGCAGAATTGCTTGAACCCGGGAGTCAGTTTCTTTTTTCTTTTTTTG... | ATCCGTCCACCTTGGCCTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACACATGCCTGTAATCTCAGCTACTCAGGAGGGTGAGGCAGAATTGCTTGAACCCGGGAGTCAGTTTCTTTTTTCTTTTTTTG... | pathogenic | 35,503 |
The genetic variant at chromosome 2, position 47796035, affecting gene MSH6 (mutS homolog 6): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Lynch_syndrome_5'] | CTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACACATGCCTGTAATCTCAGCTACTCAGGAGGGTGAGGCAGAATTGCTTGAACCCGGGAGTCAGTTTCTTTTTTCTTTTTTTGAGATGGAGACCCACTT... | CTCCCAAAGTGCTGGGATTAGGTGTGAGCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACACATGCCTGTAATCTCAGCTACTCAGGAGGGTGAGGCAGAATTGCTTGAACCCGGGAGTCAGTTTCTTTTTTCTTTTTTTGAGATGGAGACCCACTT... | pathogenic | 35,509 |
Benign or pathogenic: chromosome 2, position 47796062, gene MSH6 (mutS homolog 6) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | GCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACACATGCCTGTAATCTCAGCTACTCAGGAGGGTGAGGCAGAATTGCTTGAACCCGGGAGTCAGTTTCTTTTTTCTTTTTTTGAGATGGAGACCCACTTTGTCACCCAGGCTGGAGTGCAATGGTG... | GCCACTGGGCTGGCCCAGAATGATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACACATGCCTGTAATCTCAGCTACTCAGGAGGGTGAGGCAGAATTGCTTGAACCCGGGAGTCAGTTTCTTTTTTCTTTTTTTGAGATGGAGACCCACTTTGTCACCCAGGCTGGAGTGCAATGGTG... | pathogenic | 35,517 |
Chromosome 2, position 47796084, gene MSH6 (mutS homolog 6): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | ATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACACATGCCTGTAATCTCAGCTACTCAGGAGGGTGAGGCAGAATTGCTTGAACCCGGGAGTCAGTTTCTTTTTTCTTTTTTTGAGATGGAGACCCACTTTGTCACCCAGGCTGGAGTGCAATGGTGCAGTCTTGGCTCACTGCAATCT... | ATTTTTAAAAAGAGATCAGTAAGGCCAGGCAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACTAAGGTAGGTGGATCACCTGAGGTCAGGAGTTGCAGACAAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGACACATGCCTGTAATCTCAGCTACTCAGGAGGGTGAGGCAGAATTGCTTGAACCCGGGAGTCAGTTTCTTTTTTCTTTTTTTGAGATGGAGACCCACTTTGTCACCCAGGCTGGAGTGCAATGGTGCAGTCTTGGCTCACTGCAATCT... | benign | 35,528 |
A genetic variant at chromosome 2, position 47798591, affecting gene MSH6 (mutS homolog 6)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CAGCTTTATGCTTTTAATTCTAAAACTTTTTTTGTTGTATTTTGCATTCATAAGAATAGATGTTAAATAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTG... | CAGCTTTATGCTTTTAATTCTAAAACTTTTTTTGTTGTATTTTGCATTCATAAGAATAGATGTTAAATAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTG... | benign | 35,532 |
A mutation at chromosome position 47798618 on chromosome 2 in gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TTTTTTGTTGTATTTTGCATTCATAAGAATAGATGTTAAATAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGA... | TTTTTTGTTGTATTTTGCATTCATAAGAATAGATGTTAAATAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGA... | pathogenic | 35,550 |
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