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 |
|---|---|---|---|---|---|
Variant at chromosome position 37012118, chromosome 3, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | AAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCAGATGATCCTCCCGCCTTGGC... | AAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCAGATGATCCTCCCGCCTTGGC... | benign | 64,269 |
Is the genetic mutation found on chromosome 3 at position 37014409, within the gene MLH1 (mutL homolog 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AGTGTAGTAGAACTATTTTATCCTCCAATGCTCCTTCTTTTCCTTGTATTTCCATTATCATCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTT... | AGTGTAGTAGAACTATTTTATCCTCCAATGCTCCTTCTTTTCCTTGTATTTCCATTATCATCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTT... | pathogenic | 64,271 |
Benign or pathogenic: chromosome 3, position 37014420, gene MLH1 (mutL homolog 1) variant? Disease(s) if pathogenic? | pathogenic; ['Lynch_syndrome'] | ACTATTTTATCCTCCAATGCTCCTTCTTTTCCTTGTATTTCCATTATCATCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCA... | ACTATTTTATCCTCCAATGCTCCTTCTTTTCCTTGTATTTCCATTATCATCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCA... | pathogenic | 64,277 |
Variant in MLH1 (mutL homolog 1), chromosome 3, position 37014427—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TATCCTCCAATGCTCCTTCTTTTCCTTGTATTTCCATTATCATCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCC... | TATCCTCCAATGCTCCTTCTTTTCCTTGTATTTCCATTATCATCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCC... | pathogenic | 64,279 |
Clinical classification of chromosome 3, position 37014432, gene MLH1 (mutL homolog 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TCCAATGCTCCTTCTTTTCCTTGTATTTCCATTATCATCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGT... | TCCAATGCTCCTTCTTTTCCTTGTATTTCCATTATCATCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGT... | pathogenic | 64,285 |
Variant at chromosome position 37014436, chromosome 3, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Lynch_syndrome'] | ATGCTCCTTCTTTTCCTTGTATTTCCATTATCATCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATA... | ATGCTCCTTCTTTTCCTTGTATTTCCATTATCATCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATA... | pathogenic | 64,286 |
Evaluate if the mutation on chromosome 3 at position 37014442 in MLH1 (mutL homolog 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CTTCTTTTCCTTGTATTTCCATTATCATCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGA... | CTTCTTTTCCTTGTATTTCCATTATCATCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGA... | pathogenic | 64,288 |
Considering the variant on chromosome 3, location 37014445, 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; ['Lynch_syndrome'] | CTTTTCCTTGTATTTCCATTATCATCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGA... | CTTTTCCTTGTATTTCCATTATCATCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGA... | pathogenic | 64,289 |
The chromosome 3, position 37014469 genetic variant in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2'] | TCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATA... | TCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATA... | pathogenic | 64,299 |
Variant in gene MLH1 (mutL homolog 1), located at chromosome 3 position 37014476: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGG... | AGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGG... | pathogenic | 64,302 |
Is the chromosome 3, position 37014484 variant in MLH1 (mutL homolog 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | ACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGA... | ACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGA... | pathogenic | 64,305 |
Clinical significance of chromosome 3, position 37014498, gene MLH1 (mutL homolog 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Lynch_syndrome'] | CAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTG... | CAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTG... | pathogenic | 64,311 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 37014503, gene MLH1 (mutL homolog 1): what disease(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | TTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTC... | TTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTC... | pathogenic | 64,313 |
Is the genetic mutation found on chromosome 3 at position 37014508, 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', 'Hereditary_cancer-predisposing_syndrome'] | TAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTT... | TAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTT... | pathogenic | 64,315 |
Chromosome 3, position 37014521, 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'] | TATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTG... | TATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTG... | pathogenic | 64,321 |
Clinically, how would you classify the variant at chromosome 3, position 37014535, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGCAG... | TGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGCAG... | pathogenic | 64,328 |
Regarding the variant found on chromosome 3 at position 37014536 in gene MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | GCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGCAGT... | GCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGCAGT... | pathogenic | 64,329 |
Is the genetic variant on chromosome 3, position 37014536, gene MLH1 (mutL homolog 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms'] | GCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGCAGT... | GCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGCAGT... | pathogenic | 64,330 |
Does the variant on chromosome 3 at location 37014540 affecting gene MLH1 (mutL homolog 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGCAGTCATT... | GAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGCAGTCATT... | pathogenic | 64,332 |
Assess the variant on chromosome 3, position 37014544, impacting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch-like_syndrome', 'Lynch_syndrome'] | TTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGCAGTCATTCCAG... | TTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGCAGTCATTCCAG... | pathogenic | 64,333 |
A genetic alteration at chromosome 3, position 37014545, 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_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGCAGTCATTCCAGA... | TAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGCAGTCATTCCAGA... | pathogenic | 64,336 |
Does the genetic variant at chromosome 3, position 37014559, impacting gene MLH1 (mutL homolog 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | CAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGCAGTCATTCCAGAGCCCAGTTTCTACT... | CAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGCAGTCATTCCAGAGCCCAGTTTCTACT... | benign | 64,347 |
A mutation at chromosome position 37017481 on chromosome 3 in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GCATGTTTTACAGCAGTTGTTCAAAGCAATACAGGAACAGTAAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTG... | GCATGTTTTACAGCAGTTGTTCAAAGCAATACAGGAACAGTAAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTG... | benign | 64,353 |
Benign or pathogenic: chromosome 3, position 37017491, gene MLH1 (mutL homolog 1) variant? Disease(s) if pathogenic? | benign | CAGCAGTTGTTCAAAGCAATACAGGAACAGTAAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATT... | CAGCAGTTGTTCAAAGCAATACAGGAACAGTAAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATT... | benign | 64,356 |
Is the genetic mutation found on chromosome 3 at position 37017499, within the gene MLH1 (mutL homolog 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Lynch_syndrome'] | GTTCAAAGCAATACAGGAACAGTAAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTG... | GTTCAAAGCAATACAGGAACAGTAAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTG... | pathogenic | 64,363 |
Does the variant impacting MLH1 (mutL homolog 1) on chromosome 3, position 37017504, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Lynch_syndrome'] | AAGCAATACAGGAACAGTAAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTC... | AAGCAATACAGGAACAGTAAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTC... | pathogenic | 64,367 |
A mutation at chromosome position 37017507 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', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CAATACAGGAACAGTAAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACA... | CAATACAGGAACAGTAAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACA... | pathogenic | 64,371 |
The chromosome 3, position 37017508 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'] | AATACAGGAACAGTAAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAA... | AATACAGGAACAGTAAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAA... | pathogenic | 64,374 |
Is the genetic variant on chromosome 3, position 37017510, gene MLH1 (mutL homolog 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TACAGGAACAGTAAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATA... | TACAGGAACAGTAAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATA... | pathogenic | 64,377 |
Benign or pathogenic: chromosome 3, position 37017517, gene MLH1 (mutL homolog 1) variant? Disease(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | ACAGTAAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTT... | ACAGTAAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTT... | pathogenic | 64,379 |
Clinically, how would you classify the variant at chromosome 3, position 37017522, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Lynch_syndrome', 'Muir-Torré_syndrome'] | AAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAG... | AAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAG... | pathogenic | 64,383 |
Variant in MLH1 (mutL homolog 1), chromosome 3, position 37017524—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Lynch_syndrome'] | GGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTA... | GGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTA... | pathogenic | 64,384 |
Variant at chromosome 3, position 37017526, gene MLH1 (mutL homolog 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | ACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGC... | ACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGC... | pathogenic | 64,386 |
Chromosome 3, position 37017530, 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', 'Mismatch_repair_cancer_syndrome_1', 'Muir-Torré_syndrome'] | AGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAG... | AGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAG... | pathogenic | 64,389 |
Considering the genetic mutation at chromosome 3, position 37017533, impacting MLH1 (mutL homolog 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | CAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAA... | CAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAA... | pathogenic | 64,391 |
Gene MLH1 (mutL homolog 1) variant at chromosome position 37017535 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Lynch_syndrome'] | GTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGG... | GTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGG... | pathogenic | 64,392 |
Regarding the variant found on chromosome 3 at position 37017544 in gene MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2'] | CAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCT... | CAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCT... | pathogenic | 64,394 |
Clinical significance of chromosome 3, position 37017546, gene MLH1 (mutL homolog 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | ACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTA... | ACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTA... | pathogenic | 64,395 |
Is chromosome 3, position 37017570, 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', 'Lynch_syndrome'] | TATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACAC... | TATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACAC... | pathogenic | 64,403 |
Evaluate if the mutation on chromosome 3 at position 37017570 in MLH1 (mutL homolog 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACAC... | TATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACAC... | pathogenic | 64,405 |
Evaluate if the mutation on chromosome 3 at position 37017570 in MLH1 (mutL homolog 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACAC... | TATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACAC... | pathogenic | 64,406 |
Does the chromosome 3 mutation at position 37017571 within gene MLH1 (mutL homolog 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Lynch_syndrome'] | ATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACT... | ATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACT... | pathogenic | 64,407 |
Is the chromosome 3, position 37017574 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_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACTGTG... | AGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACTGTG... | pathogenic | 64,408 |
Is the genetic change at chromosome 3, position 37017574, within gene MLH1 (mutL homolog 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACTGTG... | AGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACTGTG... | pathogenic | 64,409 |
A genetic alteration at chromosome 3, position 37017579, 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'] | GGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACTGTGCAGGC... | GGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACTGTGCAGGC... | pathogenic | 64,411 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 37017597, gene MLH1 (mutL homolog 1): what disease(s) if pathogenic? | pathogenic; ['Lynch_syndrome'] | AGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACTGTGCAGGCGCACTCAGGTGGCAGGGA... | AGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACTGTGCAGGCGCACTCAGGTGGCAGGGA... | pathogenic | 64,419 |
Clinical classification of chromosome 3, position 37017598, gene MLH1 (mutL homolog 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | GGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACTGTGCAGGCGCACTCAGGTGGCAGGGAC... | GGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACTGTGCAGGCGCACTCAGGTGGCAGGGAC... | pathogenic | 64,420 |
Classify the chromosome 3 variant at position 37017599 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'] | GAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACTGTGCAGGCGCACTCAGGTGGCAGGGACA... | GAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACTGTGCAGGCGCACTCAGGTGGCAGGGACA... | pathogenic | 64,424 |
Mutation found at chromosome 3 position 37017608, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | ACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACTGTGCAGGCGCACTCAGGTGGCAGGGACAAAGACCACT... | ACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACTGTGCAGGCGCACTCAGGTGGCAGGGACAAAGACCACT... | benign | 64,431 |
Is the genetic variant on chromosome 3, position 37020288, gene MLH1 (mutL homolog 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGACTGGGTTCTGTTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTT... | CAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGACTGGGTTCTGTTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTT... | benign | 64,440 |
Evaluate this variant at chromosome 3, position 37020288, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGACTGGGTTCTGTTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTT... | CAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGACTGGGTTCTGTTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTT... | benign | 64,441 |
The chromosome 3, position 37020309 genetic variant in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Lynch_syndrome'] | ACTCCATCTCAAAAAAAAAAAAAAAAAGACTGGGTTCTGTTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAG... | ACTCCATCTCAAAAAAAAAAAAAAAAAGACTGGGTTCTGTTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAG... | pathogenic | 64,453 |
Mutation at chromosome 3, position 37020311, within MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TCCATCTCAAAAAAAAAAAAAAAAAGACTGGGTTCTGTTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAG... | TCCATCTCAAAAAAAAAAAAAAAAAGACTGGGTTCTGTTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAG... | pathogenic | 64,455 |
Evaluate this variant at chromosome 3, position 37020312, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Lynch_syndrome'] | CCATCTCAAAAAAAAAAAAAAAAAGACTGGGTTCTGTTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGC... | CCATCTCAAAAAAAAAAAAAAAAAGACTGGGTTCTGTTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGC... | pathogenic | 64,458 |
Is the genetic change at chromosome 3, position 37020322, within gene MLH1 (mutL homolog 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Lynch_syndrome'] | AAAAAAAAAAAAAAGACTGGGTTCTGTTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTG... | AAAAAAAAAAAAAAGACTGGGTTCTGTTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTG... | pathogenic | 64,462 |
Regarding the variant found on chromosome 3 at position 37020335 in gene MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AGACTGGGTTCTGTTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAG... | AGACTGGGTTCTGTTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAG... | pathogenic | 64,466 |
Chromosome 3, position 37020342, 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_cancer-predisposing_syndrome'] | GTTCTGTTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATT... | GTTCTGTTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATT... | pathogenic | 64,469 |
Located at chromosome 3 position 37020345, the variant affecting gene MLH1 (mutL homolog 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Lynch_syndrome'] | CTGTTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTT... | CTGTTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTT... | pathogenic | 64,472 |
Regarding the variant found on chromosome 3 at position 37020348 in gene MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTAT... | TTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTAT... | pathogenic | 64,474 |
Evaluate if the mutation on chromosome 3 at position 37020352 in MLH1 (mutL homolog 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | GTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGA... | GTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGA... | pathogenic | 64,479 |
Clinical significance of chromosome 3, position 37020354, gene MLH1 (mutL homolog 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGA... | GGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGA... | pathogenic | 64,480 |
Determine if the mutation at chromosome 3, position 37020359 in gene MLH1 (mutL homolog 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Lynch_syndrome'] | TTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAG... | TTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAG... | pathogenic | 64,483 |
Regarding the variant at chromosome 3 and position 37020362, 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_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCT... | TTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCT... | pathogenic | 64,485 |
Regarding the variant found on chromosome 3 at position 37020364 in gene MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTG... | GTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTG... | pathogenic | 64,487 |
Gene mutation in MLH1 (mutL homolog 1) at chromosome 3, position 37020372—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | ATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCA... | ATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCA... | pathogenic | 64,489 |
Determine whether the variant at chromosome 3, position 37020378, in gene MLH1 (mutL homolog 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | ACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGG... | ACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGG... | pathogenic | 64,492 |
A genetic alteration at chromosome 3, position 37020381, 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'] | GTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTG... | GTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTG... | pathogenic | 64,495 |
Does the variant impacting MLH1 (mutL homolog 1) on chromosome 3, position 37020382, 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'] | TTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGG... | TTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGG... | pathogenic | 64,497 |
Does the variant on chromosome 3 at location 37020382 affecting gene MLH1 (mutL homolog 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGG... | TTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGG... | pathogenic | 64,498 |
A mutation at chromosome position 37020383 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', 'Lynch_syndrome'] | TGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGA... | TGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGA... | pathogenic | 64,499 |
Mutation at chromosome 3, position 37020387, within MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGC... | TGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGC... | pathogenic | 64,502 |
Variant in gene MLH1 (mutL homolog 1), located at chromosome 3 position 37020390: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | CCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGT... | CCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGT... | pathogenic | 64,504 |
Gene MLH1 (mutL homolog 1) variant at chromosome position 37020390 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'] | CCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGT... | CCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGT... | pathogenic | 64,505 |
Gene MLH1 (mutL homolog 1) variant at chromosome position 37020393 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', 'MLH1-related_disorder'] | GATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGC... | GATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGC... | pathogenic | 64,507 |
Variant at chromosome 3, position 37020395, gene MLH1 (mutL homolog 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCAC... | TGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCAC... | pathogenic | 64,509 |
Is the genetic variant on chromosome 3, position 37020398, gene MLH1 (mutL homolog 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAAT... | TGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAAT... | pathogenic | 64,511 |
Is chromosome 3, position 37020404, gene MLH1 (mutL homolog 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer'] | AATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATC... | AATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATC... | pathogenic | 64,516 |
Assess the variant on chromosome 3, position 37020411, impacting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | TTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGC... | TTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGC... | pathogenic | 64,520 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 3, position 37020418, gene MLH1 (mutL homolog 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Lynch_syndrome'] | TCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCC... | TCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCC... | pathogenic | 64,524 |
The chromosome 3, position 37020418 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'] | TCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCC... | TCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCC... | pathogenic | 64,525 |
Chromosome 3, position 37020426, 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_1'] | AGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCG... | AGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCG... | pathogenic | 64,527 |
For chromosome 3, position 37020429, gene MLH1 (mutL homolog 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Lynch_syndrome'] | TTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGT... | TTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGT... | pathogenic | 64,529 |
Variant at chromosome position 37020434, 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_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | ACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAG... | ACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAG... | pathogenic | 64,534 |
Variant on chromosome 3, at position 37020434, affecting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Lynch_syndrome', 'Muir-Torré_syndrome'] | ACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAG... | ACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAG... | pathogenic | 64,535 |
Determine if the mutation at chromosome 3, position 37020440 in gene MLH1 (mutL homolog 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | ATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAGCAATTC... | ATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAGCAATTC... | pathogenic | 64,537 |
The chromosome 3, position 37020443 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', 'Lynch_syndrome'] | AAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAGCAATTCTCC... | AAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAGCAATTCTCC... | pathogenic | 64,538 |
A genetic variant at chromosome 3, position 37020446, 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', 'Lynch_syndrome'] | TAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAGCAATTCTCCTGC... | TAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAGCAATTCTCCTGC... | pathogenic | 64,541 |
Evaluate if the mutation on chromosome 3 at position 37020450 in MLH1 (mutL homolog 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Lynch_syndrome'] | CCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAGCAATTCTCCTGCCTCA... | CCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAGCAATTCTCCTGCCTCA... | pathogenic | 64,542 |
Assess the variant on chromosome 3, position 37020453, 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'] | AACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAGCAATTCTCCTGCCTCAGCC... | AACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAGCAATTCTCCTGCCTCAGCC... | pathogenic | 64,543 |
The mutation impacting MLH1 (mutL homolog 1) on chromosome 3 at position 37020456: 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', 'Lynch_syndrome'] | CCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAGCAATTCTCCTGCCTCAGCCTCC... | CCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAGCAATTCTCCTGCCTCAGCCTCC... | pathogenic | 64,546 |
Variant at chromosome position 37020467, chromosome 3, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG... | TATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG... | benign | 64,558 |
Variant in gene MLH1 (mutL homolog 1), located at chromosome 3 position 37025584: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TAAAAAGATACCAATAAATAGCCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTC... | TAAAAAGATACCAATAAATAGCCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTC... | benign | 64,571 |
Clinical classification of chromosome 3, position 37025602, gene MLH1 (mutL homolog 1): benign or pathogenic? Disease(s) if pathogenic? | benign | TAGCCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGG... | TAGCCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGG... | benign | 64,573 |
Mutation found at chromosome 3 position 37025602, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | TAGCCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGG... | TAGCCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGG... | benign | 64,574 |
Considering the variant on chromosome 3, location 37025603, involving gene MLH1 (mutL homolog 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | AGCCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGG... | AGCCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGG... | benign | 64,575 |
Mutation at chromosome 3, position 37025603, within MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AGCCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGG... | AGCCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGG... | benign | 64,576 |
Mutation at chromosome 3, position 37025604, within MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GCCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGC... | GCCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGC... | benign | 64,578 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 37025604, gene MLH1 (mutL homolog 1): what disease(s) if pathogenic? | benign | GCCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGC... | GCCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGC... | benign | 64,579 |
Mutation at chromosome 3, position 37025604, within MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GCCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGC... | GCCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGC... | benign | 64,580 |
Is the genetic mutation found on chromosome 3 at position 37025604, within the gene MLH1 (mutL homolog 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GCCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGC... | GCCAAATAAAGAGATATACAGGGCTAGATCTGGAAGGGTCTGGAGCGCAGGAGCTTCTGTCCCCATCTACTTGGCTCCCAGCAGATGGATGAGTTCTTATTCATTTTCTTGTCAGCTTCGACATGTTCAGCTCTCTGGAAGCCCGCAAACTCTTGTCTTCTTGGGCCTTTTATGGAGACGTCGTTAGGCAGGCATGATTGAAACATGGACAACTGTGTCGAAATATGATTGGACATAAAGGGGTCTAAACTCAGTGAGGCCTGTTTGTTCAGATTCTTCTTGGCCTCTCTGTGGCCATTCTTTCCTCCAGGATATGGGGC... | benign | 64,581 |
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