question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
For chromosome 3, position 37028857, gene MLH1 (mutL homolog 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | GTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAG... | GTGGTGAAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAG... | pathogenic | 64,818 |
Chromosome 3, position 37028863, gene MLH1 (mutL homolog 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGT... | AAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGT... | pathogenic | 64,822 |
Mutation found at chromosome 3 position 37028863, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGT... | AAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGT... | pathogenic | 64,823 |
Clinical classification of chromosome 3, position 37028863, gene MLH1 (mutL homolog 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Lynch_syndrome'] | AAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGT... | AAAGAAAGCTGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGT... | pathogenic | 64,824 |
The mutation impacting MLH1 (mutL homolog 1) on chromosome 3 at position 37028872: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCC... | TGGAGAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCC... | pathogenic | 64,827 |
A genetic variant on chromosome 3, position 37028876, affects the gene MLH1 (mutL homolog 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | GAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTA... | GAAAAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTA... | pathogenic | 64,829 |
Considering the genetic mutation at chromosome 3, position 37028879, impacting MLH1 (mutL homolog 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATC... | AAGGAGCAGGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATC... | pathogenic | 64,830 |
Gene MLH1 (mutL homolog 1) variant at chromosome 3, position 37028887—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2'] | GGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACT... | GGAATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACT... | pathogenic | 64,834 |
Variant in gene MLH1 (mutL homolog 1), located at chromosome 3 position 37028890: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | ATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACTTCG... | ATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACTTCG... | pathogenic | 64,836 |
Evaluate if the mutation on chromosome 3 at position 37028890 in MLH1 (mutL homolog 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Lynch_syndrome'] | ATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACTTCG... | ATAATAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACTTCG... | pathogenic | 64,837 |
Gene mutation in MLH1 (mutL homolog 1) at chromosome 3, position 37028894—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACTTCGAGAG... | TAATAATAATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACTTCGAGAG... | pathogenic | 64,840 |
Regarding the variant at chromosome 3 and position 37028902, affecting gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2'] | ATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACTTCGAGAGGCCAAGGT... | ATAATAATAATAATAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACTTCGAGAGGCCAAGGT... | pathogenic | 64,842 |
A genetic variant on chromosome 3, position 37028915, affects the gene MLH1 (mutL homolog 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Lynch_syndrome'] | TAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACTTCGAGAGGCCAAGGTGGAAGGGTCACTT... | TAAAGATTGTCATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACTTCGAGAGGCCAAGGTGGAAGGGTCACTT... | pathogenic | 64,845 |
Chromosome 3, position 37028925, gene MLH1 (mutL homolog 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Lynch_syndrome'] | CATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACTTCGAGAGGCCAAGGTGGAAGGGTCACTTGAGTCTAGGA... | CATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACTTCGAGAGGCCAAGGTGGAAGGGTCACTTGAGTCTAGGA... | pathogenic | 64,851 |
Assess the variant on chromosome 3, position 37028926, impacting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Lynch_syndrome'] | ATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACTTCGAGAGGCCAAGGTGGAAGGGTCACTTGAGTCTAGGAG... | ATTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACTTCGAGAGGCCAAGGTGGAAGGGTCACTTGAGTCTAGGAG... | pathogenic | 64,852 |
Classify the chromosome 3 variant at position 37028927 affecting gene MLH1 (mutL homolog 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACTTCGAGAGGCCAAGGTGGAAGGGTCACTTGAGTCTAGGAGT... | TTTAATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACTTCGAGAGGCCAAGGTGGAAGGGTCACTTGAGTCTAGGAGT... | pathogenic | 64,853 |
Is the variant located on chromosome 3 at position 37028930, gene MLH1 (mutL homolog 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | AATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACTTCGAGAGGCCAAGGTGGAAGGGTCACTTGAGTCTAGGAGTTAC... | AATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACTTCGAGAGGCCAAGGTGGAAGGGTCACTTGAGTCTAGGAGTTAC... | pathogenic | 64,854 |
A genetic variant on chromosome 3, position 37028930, affects the gene MLH1 (mutL homolog 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | AATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACTTCGAGAGGCCAAGGTGGAAGGGTCACTTGAGTCTAGGAGTTAC... | AATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACTTCGAGAGGCCAAGGTGGAAGGGTCACTTGAGTCTAGGAGTTAC... | pathogenic | 64,855 |
Variant at chromosome position 37028931, chromosome 3, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Lynch_syndrome'] | ATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACTTCGAGAGGCCAAGGTGGAAGGGTCACTTGAGTCTAGGAGTTACA... | ATTTTGAGTACTTCCAGTGTACACTTTGCAGGTACTCTAAGACATTACCTCACTGAAATCTCTAAGGTAGATATTCTTTATTTAAAGTGTACTTGTATGAAACCTGGAGCTCAAGGTGAAGGAATTTGCCCAAGGCTGCACTTGCACTATCGTGGCACTAATTAGCCGTGTGAACTGGGACACGTTACTTCAGTTTGCTCATTTCTGAGTCAGCCTAGCAAGATGACTTCTAAGAATTTTTTCCAGCCGGGTACATTGGCCTGTAATCCCAGCACTTCGAGAGGCCAAGGTGGAAGGGTCACTTGAGTCTAGGAGTTACA... | pathogenic | 64,856 |
Regarding the variant found on chromosome 3 at position 37040170 in gene MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TGCAATATCTCAGAGGTATGCCTGTATCTACTTGTTCTGTGATACTTGTTATTGTCAGTTTGTTTGGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCT... | TGCAATATCTCAGAGGTATGCCTGTATCTACTTGTTCTGTGATACTTGTTATTGTCAGTTTGTTTGGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCT... | benign | 64,871 |
Variant on chromosome 3, at position 37040194, affecting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TATCTACTTGTTCTGTGATACTTGTTATTGTCAGTTTGTTTGGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAAT... | TATCTACTTGTTCTGTGATACTTGTTATTGTCAGTTTGTTTGGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAAT... | pathogenic | 64,881 |
A genetic alteration at chromosome 3, position 37040195, in gene MLH1 (mutL homolog 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | ATCTACTTGTTCTGTGATACTTGTTATTGTCAGTTTGTTTGGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATC... | ATCTACTTGTTCTGTGATACTTGTTATTGTCAGTTTGTTTGGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATC... | pathogenic | 64,882 |
Variant chromosome 3, position 37040197, gene MLH1 (mutL homolog 1): benign or pathogenic? Disease(s)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Lynch_syndrome'] | CTACTTGTTCTGTGATACTTGTTATTGTCAGTTTGTTTGGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCC... | CTACTTGTTCTGTGATACTTGTTATTGTCAGTTTGTTTGGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCC... | pathogenic | 64,883 |
For chromosome 3, position 37040199, gene MLH1 (mutL homolog 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Lynch_syndrome'] | ACTTGTTCTGTGATACTTGTTATTGTCAGTTTGTTTGGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCAC... | ACTTGTTCTGTGATACTTGTTATTGTCAGTTTGTTTGGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCAC... | pathogenic | 64,884 |
Is the genetic mutation found on chromosome 3 at position 37040209, within the gene MLH1 (mutL homolog 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2'] | TGATACTTGTTATTGTCAGTTTGTTTGGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAAT... | TGATACTTGTTATTGTCAGTTTGTTTGGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAAT... | pathogenic | 64,888 |
Gene MLH1 (mutL homolog 1) variant at chromosome position 37040213 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | ACTTGTTATTGTCAGTTTGTTTGGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATG... | ACTTGTTATTGTCAGTTTGTTTGGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATG... | pathogenic | 64,889 |
Does the genetic variant at chromosome 3, position 37040217, impacting gene MLH1 (mutL homolog 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GTTATTGTCAGTTTGTTTGGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGG... | GTTATTGTCAGTTTGTTTGGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGG... | pathogenic | 64,892 |
Variant in MLH1 (mutL homolog 1), chromosome 3, position 37040217—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Lynch_syndrome'] | GTTATTGTCAGTTTGTTTGGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGG... | GTTATTGTCAGTTTGTTTGGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGG... | pathogenic | 64,893 |
Does the variant impacting MLH1 (mutL homolog 1) on chromosome 3, position 37040223, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | GTCAGTTTGTTTGGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACC... | GTCAGTTTGTTTGGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACC... | pathogenic | 64,895 |
Variant at chromosome 3, position 37040227, gene MLH1 (mutL homolog 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GTTTGTTTGGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAAT... | GTTTGTTTGGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAAT... | pathogenic | 64,896 |
Is the variant located on chromosome 3 at position 37040235, gene MLH1 (mutL homolog 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | GGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCC... | GGATTTACCACATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCC... | pathogenic | 64,900 |
The genetic variant at chromosome 3, position 37040246, affecting gene MLH1 (mutL homolog 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Lynch_syndrome'] | ATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCAC... | ATATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCAC... | pathogenic | 64,907 |
Chromosome 3, position 37040248, gene MLH1 (mutL homolog 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Lynch_syndrome'] | ATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCT... | ATTATTTGATCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCT... | pathogenic | 64,908 |
Is the variant located on chromosome 3 at position 37040257, gene MLH1 (mutL homolog 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGT... | TCATAATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGT... | pathogenic | 64,910 |
A genetic alteration at chromosome 3, position 37040262, in gene MLH1 (mutL homolog 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | ATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCAC... | ATTCTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCAC... | pathogenic | 64,912 |
Benign or pathogenic: chromosome 3, position 37040265, gene MLH1 (mutL homolog 1) variant? Disease(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Lynch_syndrome'] | CTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCACCTT... | CTTTCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCACCTT... | pathogenic | 64,914 |
Is chromosome 3, position 37040268, gene MLH1 (mutL homolog 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCACCTTGGG... | TCCTGTAGATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCACCTTGGG... | pathogenic | 64,917 |
The chromosome 3, position 37040280 genetic variant in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | TTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCACCTTGGGGGTTAGGATTTA... | TTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCACCTTGGGGGTTAGGATTTA... | pathogenic | 64,925 |
Gene MLH1 (mutL homolog 1) variant at chromosome 3, position 37040281—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | TTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCACCTTGGGGGTTAGGATTTAA... | TTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCACCTTGGGGGTTAGGATTTAA... | pathogenic | 64,927 |
Gene mutation in MLH1 (mutL homolog 1) at chromosome 3, position 37040283—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | ATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCACCTTGGGGGTTAGGATTTAACA... | ATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCACCTTGGGGGTTAGGATTTAACA... | pathogenic | 64,929 |
Located at chromosome 3 position 37040286, the variant affecting gene MLH1 (mutL homolog 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCACCTTGGGGGTTAGGATTTAACATAT... | GTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCACCTTGGGGGTTAGGATTTAACATAT... | pathogenic | 64,930 |
Chromosome 3, position 37040290, gene MLH1 (mutL homolog 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Lynch_syndrome'] | GCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCACCTTGGGGGTTAGGATTTAACATATGAAT... | GCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCACCTTGGGGGTTAGGATTTAACATATGAAT... | pathogenic | 64,931 |
Is the variant located on chromosome 3 at position 37040293, gene MLH1 (mutL homolog 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | TAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCACCTTGGGGGTTAGGATTTAACATATGAATTTT... | TAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCACCTTGGGGGTTAGGATTTAACATATGAATTTT... | pathogenic | 64,935 |
Variant at chromosome position 37040296, chromosome 3, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | ACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCACCTTGGGGGTTAGGATTTAACATATGAATTTTGTG... | ACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCACCTTGGGGGTTAGGATTTAACATATGAATTTTGTG... | pathogenic | 64,942 |
Is the genetic mutation found on chromosome 3 at position 37042267, within the gene MLH1 (mutL homolog 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Lynch_syndrome'] | TGGGCTGTGTGAATCCTCAGTGGGCCTTGGCACAGCATCAAACCAAGTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGG... | TGGGCTGTGTGAATCCTCAGTGGGCCTTGGCACAGCATCAAACCAAGTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGG... | pathogenic | 64,964 |
Is the genetic variant on chromosome 3, position 37042272, gene MLH1 (mutL homolog 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TGTGTGAATCCTCAGTGGGCCTTGGCACAGCATCAAACCAAGTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTT... | TGTGTGAATCCTCAGTGGGCCTTGGCACAGCATCAAACCAAGTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTT... | pathogenic | 64,966 |
Mutation found at chromosome 3 position 37042286, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | GTGGGCCTTGGCACAGCATCAAACCAAGTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTG... | GTGGGCCTTGGCACAGCATCAAACCAAGTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTG... | pathogenic | 64,974 |
Is the variant located on chromosome 3 at position 37042288, gene MLH1 (mutL homolog 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | GGGCCTTGGCACAGCATCAAACCAAGTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTT... | GGGCCTTGGCACAGCATCAAACCAAGTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTT... | pathogenic | 64,975 |
Determine if the mutation at chromosome 3, position 37042288 in gene MLH1 (mutL homolog 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | GGGCCTTGGCACAGCATCAAACCAAGTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTT... | GGGCCTTGGCACAGCATCAAACCAAGTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTT... | pathogenic | 64,976 |
Clinical classification of chromosome 3, position 37042292, gene MLH1 (mutL homolog 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | CTTGGCACAGCATCAAACCAAGTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTTTGTT... | CTTGGCACAGCATCAAACCAAGTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTTTGTT... | pathogenic | 64,977 |
The mutation impacting MLH1 (mutL homolog 1) on chromosome 3 at position 37042300: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | AGCATCAAACCAAGTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTG... | AGCATCAAACCAAGTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTG... | pathogenic | 64,979 |
The mutation impacting MLH1 (mutL homolog 1) on chromosome 3 at position 37042305: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CAAACCAAGTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTGAGGGT... | CAAACCAAGTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTGAGGGT... | pathogenic | 64,980 |
For chromosome 3, position 37042309, gene MLH1 (mutL homolog 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | CCAAGTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTGAGGGTAAGA... | CCAAGTTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTGAGGGTAAGA... | pathogenic | 64,982 |
The genetic variant at chromosome 3, position 37042314, affecting gene MLH1 (mutL homolog 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Lynch_syndrome'] | TTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTGAGGGTAAGAAATAA... | TTATACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTGAGGGTAAGAAATAA... | pathogenic | 64,983 |
Determine if the mutation at chromosome 3, position 37042317 in gene MLH1 (mutL homolog 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTGAGGGTAAGAAATAACCC... | TACCTTCTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTGAGGGTAAGAAATAACCC... | pathogenic | 64,985 |
Chromosome 3, position 37042323, gene MLH1 (mutL homolog 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Lynch_syndrome'] | CTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTGAGGGTAAGAAATAACCCAAGAAG... | CTCAACACCACCAAGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTGAGGGTAAGAAATAACCCAAGAAG... | pathogenic | 64,987 |
For chromosome 3, position 37042336, gene MLH1 (mutL homolog 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | AGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTGAGGGTAAGAAATAACCCAAGAAGCCTAGTCCTTGGT... | AGCTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTGAGGGTAAGAAATAACCCAAGAAGCCTAGTCCTTGGT... | pathogenic | 65,001 |
Regarding the variant at chromosome 3 and position 37042338, affecting gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTGAGGGTAAGAAATAACCCAAGAAGCCTAGTCCTTGGTAG... | CTTAGGTAAATCAGCTGAGTGTGTGAACAAGCAGAGCTACTACAACAATGGTCCAGGGAGCACAGGCACAAAAGCTAAGGAGAGCAGCATGAGGTAGTTGGGAGGGCACAGGCTTTGGAGTCAGACACATGTGGTTTCAAATCCAAGTTCGACCATTTCCCATTTATTTGACTGTAGACAAGTTACATTCCTAAACTATGTCTCAGATTTCTCATCTGTAAGTTGTGGTATTACTAGTTAACATGCAGGGGTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTGAGGGTAAGAAATAACCCAAGAAGCCTAGTCCTTGGTAG... | benign | 65,003 |
A genetic alteration at chromosome 3, position 37047476, in gene MLH1 (mutL homolog 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | TTACTGACATAAAGTTATTTATAATATTTCTTATTCTTTTATTATCTATGGATCTCTTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGT... | TTACTGACATAAAGTTATTTATAATATTTCTTATTCTTTTATTATCTATGGATCTCTTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGT... | benign | 65,008 |
Considering the genetic mutation at chromosome 3, position 37047523, impacting MLH1 (mutL homolog 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms'] | ATGGATCTCTTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTA... | ATGGATCTCTTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTA... | pathogenic | 65,022 |
Determine if the mutation at chromosome 3, position 37047525 in gene MLH1 (mutL homolog 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GGATCTCTTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAAC... | GGATCTCTTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAAC... | pathogenic | 65,024 |
Regarding the variant at chromosome 3 and position 37047530, affecting gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TCTTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAG... | TCTTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAG... | pathogenic | 65,028 |
Gene MLH1 (mutL homolog 1) variant at chromosome position 37047531 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | CTTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGC... | CTTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGC... | pathogenic | 65,029 |
Located at chromosome 3 position 37047532, the variant affecting gene MLH1 (mutL homolog 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCC... | TTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCC... | pathogenic | 65,032 |
Assess the variant on chromosome 3, position 37047533, impacting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | TGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCT... | TGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCT... | pathogenic | 65,033 |
Considering the genetic mutation at chromosome 3, position 37047533, impacting MLH1 (mutL homolog 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | TGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCT... | TGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCT... | pathogenic | 65,034 |
Is the chromosome 3, position 37047543 variant in MLH1 (mutL homolog 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1', 'Muir-Torré_syndrome'] | ACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCA... | ACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCA... | pathogenic | 65,036 |
Mutation found at chromosome 3 position 37047543, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Lynch_syndrome'] | ACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCA... | ACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCA... | pathogenic | 65,037 |
Assess the variant on chromosome 3, position 37047548, impacting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGA... | TCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGA... | pathogenic | 65,040 |
Evaluate if the mutation on chromosome 3 at position 37047548 in MLH1 (mutL homolog 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms'] | TCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGA... | TCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGA... | pathogenic | 65,041 |
Variant in MLH1 (mutL homolog 1), chromosome 3, position 37047549—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Lynch_syndrome'] | CTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGAT... | CTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGAT... | pathogenic | 65,042 |
Located at chromosome 3 position 37047554, the variant affecting gene MLH1 (mutL homolog 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Lynch_syndrome'] | TCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTG... | TCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTG... | pathogenic | 65,044 |
Mutation found at chromosome 3 position 37047555, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch-like_syndrome', 'Lynch_syndrome', 'MLH1-related_disorder'] | CCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGT... | CCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGT... | pathogenic | 65,045 |
A genetic variant at chromosome 3, position 37047557, affecting gene MLH1 (mutL homolog 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | TAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTT... | TAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTT... | pathogenic | 65,048 |
Chromosome 3, position 37047559, gene MLH1 (mutL homolog 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | ATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCT... | ATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCT... | pathogenic | 65,049 |
Clinical significance of chromosome 3, position 37047564, gene MLH1 (mutL homolog 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Lynch_syndrome'] | GGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCC... | GGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCC... | pathogenic | 65,051 |
Does the genetic variant at chromosome 3, position 37047565, impacting gene MLH1 (mutL homolog 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch-like_syndrome', 'Lynch_syndrome', 'Mismatch_repair_cancer_syndrome_1'] | GTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCT... | GTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCT... | pathogenic | 65,052 |
A mutation at chromosome position 37047567 on chromosome 3 in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | AATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCC... | AATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCC... | pathogenic | 65,054 |
Evaluate if the mutation on chromosome 3 at position 37047574 in MLH1 (mutL homolog 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colon_cancer'] | GGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAG... | GGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAG... | pathogenic | 65,056 |
The mutation impacting MLH1 (mutL homolog 1) on chromosome 3 at position 37047577: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTG... | TTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTG... | pathogenic | 65,058 |
Chromosome 3, position 37047582, gene MLH1 (mutL homolog 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Lynch_syndrome'] | TTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATT... | TTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATT... | pathogenic | 65,061 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 37047593, gene MLH1 (mutL homolog 1): what disease(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCA... | GTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCA... | pathogenic | 65,068 |
Determine if the mutation at chromosome 3, position 37047596 in gene MLH1 (mutL homolog 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Lynch_syndrome'] | AGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCA... | AGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCA... | pathogenic | 65,070 |
Does the variant impacting MLH1 (mutL homolog 1) on chromosome 3, position 37047606, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | GAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATT... | GAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATT... | pathogenic | 65,075 |
Chromosome 3, position 37047610, gene MLH1 (mutL homolog 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTG... | TTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTG... | pathogenic | 65,077 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 37047613, gene MLH1 (mutL homolog 1): what disease(s) if pathogenic? | pathogenic; ['Lynch_syndrome'] | ATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTAT... | ATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTAT... | pathogenic | 65,080 |
Mutation found at chromosome 3 position 37047617, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | ATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTT... | ATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTT... | pathogenic | 65,083 |
The mutation in gene MLH1 (mutL homolog 1) at chromosome 3, position 37047618—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'likely other unspecified diseases'] | TTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTA... | TTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTA... | pathogenic | 65,084 |
Benign or pathogenic: chromosome 3, position 37047624, gene MLH1 (mutL homolog 1) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAG... | TGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAG... | pathogenic | 65,085 |
Considering the variant on chromosome 3, location 37047626, involving gene MLH1 (mutL homolog 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2'] | ATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGAT... | ATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGAT... | pathogenic | 65,087 |
Located at chromosome 3 position 37047631, the variant affecting gene MLH1 (mutL homolog 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Carcinoma_of_colon', 'Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch-like_syndrome', 'Lynch_syndrome', 'Lynch_syndrome_1', 'Mismatch_repair_cancer_syndrome_1', 'Muir-Torré_syndrome'] | CTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGT... | CTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGT... | pathogenic | 65,088 |
A mutation at chromosome position 37047639 on chromosome 3 in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | ACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGT... | ACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGT... | benign | 65,092 |
Gene mutation in MLH1 (mutL homolog 1) at chromosome 3, position 37047640—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Lynch_syndrome'] | CTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTG... | CTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTG... | pathogenic | 65,095 |
The chromosome 3, position 37047640 genetic variant in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'MLH1-related_disorder'] | CTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTG... | CTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTG... | pathogenic | 65,096 |
The chromosome 3, position 37047644 genetic variant in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGG... | CTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGG... | pathogenic | 65,099 |
Assess the variant on chromosome 3, position 37047651, impacting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome', 'Lynch_syndrome_1'] | TTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCT... | TTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCT... | pathogenic | 65,100 |
Assess the variant on chromosome 3, position 37047653, impacting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | TCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGG... | TCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGG... | pathogenic | 65,104 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 37047661, gene MLH1 (mutL homolog 1): what disease(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAAC... | TTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAAC... | pathogenic | 65,105 |
Considering the variant on chromosome 3, location 37047661, involving gene MLH1 (mutL homolog 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Lynch_syndrome'] | TTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAAC... | TTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAAC... | pathogenic | 65,106 |
Regarding the variant found on chromosome 3 at position 37047665 in gene MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Lynch_syndrome'] | CTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCT... | CTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCT... | pathogenic | 65,110 |
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