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 3, position 36996709, gene MLH1 (mutL homolog 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Gastric_cancer', 'Lynch_syndrome'] | TGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCTGGCTAATTT... | TGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCTGGCTAATTT... | pathogenic | 63,858 |
Variant on chromosome 3, at position 37000948, affecting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GTGCACAACATGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCC... | GTGCACAACATGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCC... | benign | 63,874 |
Gene mutation in MLH1 (mutL homolog 1) at chromosome 3, position 37000952—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | ACAACATGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGG... | ACAACATGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGG... | pathogenic | 63,877 |
Clinically, how would you classify the variant at chromosome 3, position 37000952, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Muir-Torré_syndrome'] | ACAACATGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGG... | ACAACATGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGG... | pathogenic | 63,878 |
Is the genetic variant on chromosome 3, position 37000952, gene MLH1 (mutL homolog 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | ACAACATGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGG... | ACAACATGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGG... | pathogenic | 63,879 |
Assess the variant on chromosome 3, position 37000953, 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'] | CAACATGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGT... | CAACATGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGT... | pathogenic | 63,882 |
A mutation at chromosome position 37000955 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', 'Lynch_syndrome'] | ACATGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGT... | ACATGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGT... | pathogenic | 63,884 |
Mutation found at chromosome 3 position 37000973, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCT... | TATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCT... | pathogenic | 63,888 |
Does the variant on chromosome 3 at location 37000975 affecting gene MLH1 (mutL homolog 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Lynch_syndrome'] | TGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTA... | TGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTA... | pathogenic | 63,890 |
Gene MLH1 (mutL homolog 1) variant at chromosome 3, position 37000978—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | ATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATC... | ATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATC... | pathogenic | 63,894 |
Gene MLH1 (mutL homolog 1) variant at chromosome position 37000979 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms'] | TACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCC... | TACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCC... | pathogenic | 63,895 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 3, position 37000987, gene MLH1 (mutL homolog 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATC... | CCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATC... | pathogenic | 63,899 |
Evaluate this variant at chromosome 3, position 37000990, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Lynch_syndrome'] | TGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATT... | TGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATT... | pathogenic | 63,901 |
Clinical classification of chromosome 3, position 37000996, gene MLH1 (mutL homolog 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | TGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGA... | TGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGA... | pathogenic | 63,904 |
The mutation in gene MLH1 (mutL homolog 1) at chromosome 3, position 37000997—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colon_cancer'] | GTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGAC... | GTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGAC... | pathogenic | 63,906 |
A mutation at chromosome position 37001004 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_nonpolyposis_colorectal_neoplasms'] | ACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGG... | ACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGG... | pathogenic | 63,910 |
The chromosome 3, position 37001006 genetic variant in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Lynch_syndrome'] | CCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTT... | CCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTT... | pathogenic | 63,911 |
Gene MLH1 (mutL homolog 1) variant at chromosome position 37001008 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2'] | ATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGG... | ATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGG... | pathogenic | 63,912 |
The chromosome 3, position 37001013 genetic variant in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCA... | GTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCA... | pathogenic | 63,916 |
For chromosome 3, position 37001025, gene MLH1 (mutL homolog 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | CATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGT... | CATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGT... | pathogenic | 63,920 |
Gene MLH1 (mutL homolog 1) variant at chromosome 3, position 37001027—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Muir-Torré_syndrome'] | TTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTG... | TTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTG... | pathogenic | 63,921 |
Gene mutation in MLH1 (mutL homolog 1) at chromosome 3, position 37001033—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | ATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTGCGAATA... | ATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTGCGAATA... | pathogenic | 63,923 |
Does the chromosome 3 mutation at position 37001036 within gene MLH1 (mutL homolog 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTGCGAATAGTG... | TCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTGCGAATAGTG... | pathogenic | 63,925 |
Considering the genetic mutation at chromosome 3, position 37001037, impacting MLH1 (mutL homolog 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Lynch_syndrome'] | CTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTGCGAATAGTGC... | CTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTGCGAATAGTGC... | pathogenic | 63,926 |
Regarding the variant at chromosome 3 and position 37001039, affecting gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Carcinoma_of_colon', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTGCGAATAGTGCTG... | CCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTGCGAATAGTGCTG... | pathogenic | 63,928 |
Evaluate if the mutation on chromosome 3 at position 37001054 in MLH1 (mutL homolog 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Lynch_syndrome_1'] | CCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTGCGAATAGTGCTGCAGTAAACATACGTG... | CCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTGCGAATAGTGCTGCAGTAAACATACGTG... | pathogenic | 63,940 |
Regarding the variant at chromosome 3 and position 37004380, affecting gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | ATAGAAATAACATTCCTTGGTAAAAGAATACATATTTTAAAAACTGTATTAGTTTCCTGTTGCTGTCAAAAAATTTCCAGAAACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGT... | ATAGAAATAACATTCCTTGGTAAAAGAATACATATTTTAAAAACTGTATTAGTTTCCTGTTGCTGTCAAAAAATTTCCAGAAACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGT... | benign | 63,952 |
Is the genetic change at chromosome 3, position 37004405, within 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'] | GAATACATATTTTAAAAACTGTATTAGTTTCCTGTTGCTGTCAAAAAATTTCCAGAAACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGT... | GAATACATATTTTAAAAACTGTATTAGTTTCCTGTTGCTGTCAAAAAATTTCCAGAAACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGT... | pathogenic | 63,965 |
Is the chromosome 3, position 37004417 variant in MLH1 (mutL homolog 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | TAAAAACTGTATTAGTTTCCTGTTGCTGTCAAAAAATTTCCAGAAACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATT... | TAAAAACTGTATTAGTTTCCTGTTGCTGTCAAAAAATTTCCAGAAACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATT... | pathogenic | 63,970 |
Regarding the variant found on chromosome 3 at position 37004434 in gene MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Lynch_syndrome'] | TCCTGTTGCTGTCAAAAAATTTCCAGAAACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGC... | TCCTGTTGCTGTCAAAAAATTTCCAGAAACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGC... | pathogenic | 63,976 |
Assess the variant on chromosome 3, position 37004439, impacting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Lynch_syndrome'] | TTGCTGTCAAAAAATTTCCAGAAACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTG... | TTGCTGTCAAAAAATTTCCAGAAACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTG... | pathogenic | 63,978 |
Clinical classification of chromosome 3, position 37004439, gene MLH1 (mutL homolog 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Carcinoma_of_colon', 'Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Lynch_syndrome', 'Muir-Torré_syndrome'] | TTGCTGTCAAAAAATTTCCAGAAACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTG... | TTGCTGTCAAAAAATTTCCAGAAACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTG... | pathogenic | 63,979 |
Evaluate the clinical significance of the mutation at chromosome 3, position 37004440 in gene MLH1 (mutL homolog 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TGCTGTCAAAAAATTTCCAGAAACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTGT... | TGCTGTCAAAAAATTTCCAGAAACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTGT... | pathogenic | 63,980 |
The mutation in gene MLH1 (mutL homolog 1) at chromosome 3, position 37004445—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Lynch_syndrome'] | TCAAAAAATTTCCAGAAACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTGTGATTC... | TCAAAAAATTTCCAGAAACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTGTGATTC... | pathogenic | 63,984 |
Is the genetic change at chromosome 3, position 37004458, within 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'] | AGAAACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTGTGATTCAGTCTCTGTAATT... | AGAAACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTGTGATTCAGTCTCTGTAATT... | pathogenic | 63,987 |
The mutation impacting MLH1 (mutL homolog 1) on chromosome 3 at position 37004462: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Muir-Torré_syndrome'] | ACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTGTGATTCAGTCTCTGTAATTTAGA... | ACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTGTGATTCAGTCTCTGTAATTTAGA... | pathogenic | 63,990 |
Determine if the mutation at chromosome 3, position 37004471 in gene MLH1 (mutL homolog 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Lynch_syndrome'] | CATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTGTGATTCAGTCTCTGTAATTTAGATCAATTTAC... | CATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTGTGATTCAGTCTCTGTAATTTAGATCAATTTAC... | pathogenic | 63,994 |
A genetic variant at chromosome 3, position 37004473, 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'] | TTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTGTGATTCAGTCTCTGTAATTTAGATCAATTTACAT... | TTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTGTGATTCAGTCTCTGTAATTTAGATCAATTTACAT... | pathogenic | 63,996 |
Clinical significance of chromosome 3, position 37004474, 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'] | TAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTGTGATTCAGTCTCTGTAATTTAGATCAATTTACATC... | TAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTGTGATTCAGTCTCTGTAATTTAGATCAATTTACATC... | pathogenic | 63,999 |
Variant in gene MLH1 (mutL homolog 1), located at chromosome 3 position 37004480: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | ATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTGTGATTCAGTCTCTGTAATTTAGATCAATTTACATCAAACTA... | ATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTGTGATTCAGTCTCTGTAATTTAGATCAATTTACATCAAACTA... | benign | 64,007 |
Gene mutation in MLH1 (mutL homolog 1) at chromosome 3, position 37006974—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TGTTATGCTGGTACAGTTTTCAGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAA... | TGTTATGCTGGTACAGTTTTCAGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAA... | benign | 64,019 |
Variant in gene MLH1 (mutL homolog 1), located at chromosome 3 position 37006991: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TTTCAGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCT... | TTTCAGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCT... | pathogenic | 64,030 |
For chromosome 3, position 37006992, gene MLH1 (mutL homolog 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TTCAGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTG... | TTCAGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTG... | pathogenic | 64,032 |
A genetic alteration at chromosome 3, position 37006992, in gene MLH1 (mutL homolog 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Lynch_syndrome'] | TTCAGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTG... | TTCAGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTG... | pathogenic | 64,033 |
Classify the chromosome 3 variant at position 37006995 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'] | AGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGC... | AGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGC... | pathogenic | 64,034 |
Is the genetic mutation found on chromosome 3 at position 37006995, within the gene MLH1 (mutL homolog 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Lynch_syndrome'] | AGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGC... | AGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGC... | pathogenic | 64,035 |
Variant at chromosome 3, position 37006996, gene MLH1 (mutL homolog 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | GAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCA... | GAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCA... | pathogenic | 64,036 |
Located at chromosome 3 position 37006998, the variant affecting gene MLH1 (mutL homolog 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATG... | AACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATG... | pathogenic | 64,038 |
A mutation at chromosome position 37007002 on chromosome 3 in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast_carcinoma', 'Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATGGTGA... | GATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATGGTGA... | pathogenic | 64,043 |
Mutation found at chromosome 3 position 37007002, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATGGTGA... | GATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATGGTGA... | pathogenic | 64,044 |
Does the genetic variant at chromosome 3, position 37007013, impacting gene MLH1 (mutL homolog 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATGGTGATGCATATCTGT... | TTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATGGTGATGCATATCTGT... | pathogenic | 64,051 |
Is the genetic mutation found on chromosome 3 at position 37007013, 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', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATGGTGATGCATATCTGT... | TTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATGGTGATGCATATCTGT... | pathogenic | 64,052 |
Is the variant located on chromosome 3 at position 37007027, gene MLH1 (mutL homolog 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATGGTGATGCATATCTGTAGTCTTAGCTACTC... | AAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATGGTGATGCATATCTGTAGTCTTAGCTACTC... | pathogenic | 64,056 |
Does the genetic variant at chromosome 3, position 37007037, impacting gene MLH1 (mutL homolog 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | CAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATGGTGATGCATATCTGTAGTCTTAGCTACTCCGGAGGTGGG... | CAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATGGTGATGCATATCTGTAGTCTTAGCTACTCCGGAGGTGGG... | pathogenic | 64,059 |
Gene MLH1 (mutL homolog 1) variant at chromosome position 37007065 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'] | TATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATGGTGATGCATATCTGTAGTCTTAGCTACTCCGGAGGTGGGAAGATTGCTTGAGCCCAGCAGTTTGAGG... | TATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATGGTGATGCATATCTGTAGTCTTAGCTACTCCGGAGGTGGGAAGATTGCTTGAGCCCAGCAGTTTGAGG... | pathogenic | 64,078 |
For chromosome 3, position 37008803, gene MLH1 (mutL homolog 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TGTGCCATTGCTCTCCAGCCTGGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGT... | TGTGCCATTGCTCTCCAGCCTGGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGT... | benign | 64,096 |
The mutation impacting MLH1 (mutL homolog 1) on chromosome 3 at position 37008818: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Carcinoma_of_colon', 'Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Muir-Torré_syndrome'] | CAGCCTGGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAA... | CAGCCTGGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAA... | pathogenic | 64,105 |
Considering the variant on chromosome 3, location 37008820, involving gene MLH1 (mutL homolog 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | GCCTGGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATT... | GCCTGGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATT... | pathogenic | 64,106 |
Assess the variant on chromosome 3, position 37008821, 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', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CCTGGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTG... | CCTGGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTG... | pathogenic | 64,107 |
The chromosome 3, position 37008823 genetic variant in gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TGGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTT... | TGGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTT... | pathogenic | 64,109 |
Classify the chromosome 3 variant at position 37008823 affecting gene MLH1 (mutL homolog 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Lynch_syndrome'] | TGGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTT... | TGGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTT... | pathogenic | 64,110 |
Chromosome 3, position 37008847, gene MLH1 (mutL homolog 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Lynch_syndrome'] | CTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTG... | CTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTG... | pathogenic | 64,121 |
A genetic variant at chromosome 3, position 37008852, 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'] | AAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATA... | AAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATA... | pathogenic | 64,122 |
A genetic alteration at chromosome 3, position 37008854, in gene MLH1 (mutL homolog 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Lynch_syndrome'] | AAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAA... | AAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAA... | pathogenic | 64,123 |
Gene MLH1 (mutL homolog 1) variant at chromosome position 37008857 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Carcinoma_of_colon', 'Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch-like_syndrome', 'Lynch_syndrome'] | AAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAA... | AAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAA... | pathogenic | 64,126 |
The genetic variant at chromosome 3, position 37008857, affecting gene MLH1 (mutL homolog 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | AAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAA... | AAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAA... | pathogenic | 64,127 |
Does the variant impacting MLH1 (mutL homolog 1) on chromosome 3, position 37008857, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Lynch_syndrome'] | AAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAA... | AAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAA... | pathogenic | 64,128 |
Chromosome 3, position 37008871, gene MLH1 (mutL homolog 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Lynch_syndrome'] | CAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTA... | CAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTA... | pathogenic | 64,130 |
A genetic alteration at chromosome 3, position 37008882, 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'] | GGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGG... | GGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGG... | pathogenic | 64,134 |
The mutation in gene MLH1 (mutL homolog 1) at chromosome 3, position 37008883—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Lynch_syndrome'] | GAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGGT... | GAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGGT... | pathogenic | 64,135 |
Mutation at chromosome 3, position 37008891, within MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | GGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGGTAATAATAA... | GGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGGTAATAATAA... | pathogenic | 64,138 |
Benign or pathogenic: chromosome 3, position 37008891, gene MLH1 (mutL homolog 1) variant? Disease(s) if pathogenic? | pathogenic; ['Lynch_syndrome'] | GGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGGTAATAATAA... | GGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGGTAATAATAA... | pathogenic | 64,139 |
Variant in MLH1 (mutL homolog 1), chromosome 3, position 37008900—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGGTAATAATAAAATGAATTT... | AACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGGTAATAATAAAATGAATTT... | pathogenic | 64,143 |
Variant chromosome 3, position 37011800, gene MLH1 (mutL homolog 1): benign or pathogenic? Disease(s)? | benign | ATATGTATATGTGTGTATATATATATTTATATATATGTATATGTGTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAA... | ATATGTATATGTGTGTATATATATATTTATATATATGTATATGTGTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAA... | benign | 64,161 |
Considering the genetic mutation at chromosome 3, position 37011800, impacting MLH1 (mutL homolog 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ATATGTATATGTGTGTATATATATATTTATATATATGTATATGTGTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAA... | ATATGTATATGTGTGTATATATATATTTATATATATGTATATGTGTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAA... | benign | 64,162 |
Does the variant impacting MLH1 (mutL homolog 1) on chromosome 3, position 37011801, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TATGTATATGTGTGTATATATATATTTATATATATGTATATGTGTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAG... | TATGTATATGTGTGTATATATATATTTATATATATGTATATGTGTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAG... | benign | 64,164 |
Variant in gene MLH1 (mutL homolog 1), located at chromosome 3 position 37011836: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GTATATGTGTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGC... | GTATATGTGTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGC... | pathogenic | 64,177 |
Chromosome 3, position 37011844, gene MLH1 (mutL homolog 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Lynch_syndrome'] | GTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTC... | GTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTC... | pathogenic | 64,180 |
Determine if the mutation at chromosome 3, position 37011854 in gene MLH1 (mutL homolog 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | ATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTT... | ATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTT... | pathogenic | 64,185 |
The mutation impacting MLH1 (mutL homolog 1) on chromosome 3 at position 37011856: 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'] | ATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTT... | ATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTT... | pathogenic | 64,187 |
Variant in MLH1 (mutL homolog 1), chromosome 3, position 37011856—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch-like_syndrome', 'Lynch_syndrome'] | ATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTT... | ATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTT... | pathogenic | 64,188 |
Does the chromosome 3 mutation at position 37011862 within gene MLH1 (mutL homolog 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | TTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTT... | TTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTT... | pathogenic | 64,191 |
A genetic variant on chromosome 3, position 37012002, affects the gene MLH1 (mutL homolog 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGAT... | CACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGAT... | benign | 64,209 |
Variant on chromosome 3, at position 37012014, affecting MLH1 (mutL homolog 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | CAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATG... | CAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATG... | pathogenic | 64,217 |
Gene MLH1 (mutL homolog 1) variant at chromosome 3, position 37012026—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCG... | TGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCG... | pathogenic | 64,221 |
Does the variant on chromosome 3 at location 37012053 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'] | AATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATG... | AATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATG... | pathogenic | 64,229 |
Is the chromosome 3, position 37012054 variant in MLH1 (mutL homolog 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Lynch_syndrome'] | ATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGG... | ATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGG... | pathogenic | 64,230 |
Evaluate the clinical significance of the mutation at chromosome 3, position 37012068 in gene MLH1 (mutL homolog 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome'] | GCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTT... | GCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTT... | pathogenic | 64,236 |
Clinically, how would you classify the variant at chromosome 3, position 37012070, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Lynch_syndrome'] | TGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGG... | TGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGG... | pathogenic | 64,237 |
The mutation impacting MLH1 (mutL homolog 1) on chromosome 3 at position 37012074: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAG... | CTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAG... | pathogenic | 64,239 |
For chromosome 3, position 37012084, gene MLH1 (mutL homolog 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Lynch_syndrome'] | TGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCA... | TGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCA... | pathogenic | 64,243 |
Variant at chromosome position 37012084, chromosome 3, gene MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Carcinoma_of_colon', 'Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCA... | TGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCA... | pathogenic | 64,244 |
A genetic variant on chromosome 3, position 37012092, affects the gene MLH1 (mutL homolog 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCG... | GGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCG... | pathogenic | 64,246 |
The mutation in gene MLH1 (mutL homolog 1) at chromosome 3, position 37012092—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | GGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCG... | GGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCG... | pathogenic | 64,247 |
Does the chromosome 3 mutation at position 37012094 within gene MLH1 (mutL homolog 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGAC... | TGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGAC... | pathogenic | 64,248 |
Does the chromosome 3 mutation at position 37012094 within gene MLH1 (mutL homolog 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Colorectal_cancer,_hereditary_nonpolyposis,_type_2', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGAC... | TGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGAC... | pathogenic | 64,249 |
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 37012098, gene MLH1 (mutL homolog 1): what disease(s) if pathogenic? | pathogenic; ['Lynch_syndrome'] | CTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCA... | CTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCA... | pathogenic | 64,251 |
Is the variant located on chromosome 3 at position 37012099, gene MLH1 (mutL homolog 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Lynch_syndrome'] | TGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCAG... | TGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCAG... | pathogenic | 64,253 |
Variant in MLH1 (mutL homolog 1), chromosome 3, position 37012099—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Lynch_syndrome'] | TGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCAG... | TGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCAG... | pathogenic | 64,255 |
Mutation at chromosome 3, position 37012118, within MLH1 (mutL homolog 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | AAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCAGATGATCCTCCCGCCTTGGC... | AAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCAGATGATCCTCCCGCCTTGGC... | benign | 64,268 |
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