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 chromosome 2, position 47410106, gene MSH2 (mutS homolog 2): benign or pathogenic? Disease(s)? | pathogenic; ['Lynch_syndrome'] | TGTGGGAGGGACCTGGTGGGAGATAGTTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGT... | TGTGGGAGGGACCTGGTGGGAGATAGTTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGT... | pathogenic | 33,448 |
A genetic variant at chromosome 2, position 47410107, affecting gene MSH2 (mutS homolog 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Carcinoma_of_colon', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch-like_syndrome', 'Lynch_syndrome', 'Lynch_syndrome_1'] | GTGGGAGGGACCTGGTGGGAGATAGTTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTA... | GTGGGAGGGACCTGGTGGGAGATAGTTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTA... | pathogenic | 33,450 |
Does the variant on chromosome 2 at location 47410107 affecting gene MSH2 (mutS homolog 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | GTGGGAGGGACCTGGTGGGAGATAGTTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTA... | GTGGGAGGGACCTGGTGGGAGATAGTTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTA... | pathogenic | 33,451 |
A genetic alteration at chromosome 2, position 47410114, in gene MSH2 (mutS homolog 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1', 'MSH2-related_disorder', 'Mismatch_repair_cancer_syndrome_2', 'Muir-Torré_syndrome'] | GGACCTGGTGGGAGATAGTTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACT... | GGACCTGGTGGGAGATAGTTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACT... | pathogenic | 33,456 |
Considering the variant on chromosome 2, location 47410121, involving gene MSH2 (mutS homolog 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | GTGGGAGATAGTTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTT... | GTGGGAGATAGTTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTT... | pathogenic | 33,458 |
Is the variant located on chromosome 2 at position 47410125, gene MSH2 (mutS homolog 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Lynch_syndrome'] | GAGATAGTTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTT... | GAGATAGTTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTT... | pathogenic | 33,459 |
Chromosome 2, position 47410132, gene MSH2 (mutS homolog 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | TTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAG... | TTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAG... | pathogenic | 33,462 |
Determine whether the variant at chromosome 2, position 47410141, in gene MSH2 (mutS homolog 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | GGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATC... | GGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATC... | pathogenic | 33,464 |
Variant chromosome 2, position 47410145, gene MSH2 (mutS homolog 2): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | ATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCA... | ATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCA... | pathogenic | 33,465 |
A mutation at chromosome position 47410146 on chromosome 2 in gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | TGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAG... | TGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAG... | pathogenic | 33,466 |
Clinically, how would you classify the variant at chromosome 2, position 47410148, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAG... | GATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAG... | pathogenic | 33,467 |
Considering the genetic mutation at chromosome 2, position 47410166, impacting MSH2 (mutS homolog 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAAT... | GTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAAT... | pathogenic | 33,476 |
Gene MSH2 (mutS homolog 2) variant at chromosome position 47410169 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | ATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAA... | ATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAA... | pathogenic | 33,478 |
Chromosome 2, position 47410172, gene MSH2 (mutS homolog 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Lynch_syndrome_1'] | GTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTT... | GTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTT... | pathogenic | 33,479 |
Gene MSH2 (mutS homolog 2) variant at chromosome 2, position 47410174—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | GAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTG... | GAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTG... | pathogenic | 33,481 |
Variant chromosome 2, position 47410177, gene MSH2 (mutS homolog 2): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | TAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAAT... | TAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAAT... | pathogenic | 33,482 |
Gene MSH2 (mutS homolog 2) variant at chromosome position 47410177 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Lynch_syndrome', 'Mismatch_repair_cancer_syndrome_2'] | TAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAAT... | TAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAAT... | pathogenic | 33,483 |
Assess the variant on chromosome 2, position 47410189, impacting MSH2 (mutS homolog 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | GATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAG... | GATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAG... | pathogenic | 33,487 |
A genetic variant at chromosome 2, position 47410192, affecting gene MSH2 (mutS homolog 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | CTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATC... | CTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATC... | pathogenic | 33,488 |
Does the variant on chromosome 2 at location 47410192 affecting gene MSH2 (mutS homolog 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | CTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATC... | CTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATC... | pathogenic | 33,489 |
Clinical classification of chromosome 2, position 47410203, gene MSH2 (mutS homolog 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | AAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTT... | AAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTT... | pathogenic | 33,492 |
Is chromosome 2, position 47410216, gene MSH2 (mutS homolog 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAG... | TACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAG... | pathogenic | 33,500 |
The chromosome 2, position 47410218 genetic variant in gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | CCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTT... | CCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTT... | pathogenic | 33,504 |
Determine if the mutation at chromosome 2, position 47410223 in gene MSH2 (mutS homolog 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | ACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGT... | ACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGT... | pathogenic | 33,510 |
Does the variant on chromosome 2 at location 47410230 affecting gene MSH2 (mutS homolog 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Lynch_syndrome'] | CTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAG... | CTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAG... | pathogenic | 33,513 |
A mutation at chromosome position 47410238 on chromosome 2 in gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | GCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGC... | GCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGC... | pathogenic | 33,517 |
Benign or pathogenic: chromosome 2, position 47410244, gene MSH2 (mutS homolog 2) variant? Disease(s) if pathogenic? | pathogenic; ['Lynch_syndrome'] | TGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAA... | TGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAA... | pathogenic | 33,520 |
Evaluate the clinical significance of the mutation at chromosome 2, position 47410250 in gene MSH2 (mutS homolog 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | CCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGC... | CCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGC... | pathogenic | 33,526 |
Determine if the mutation at chromosome 2, position 47410250 in gene MSH2 (mutS homolog 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | CCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGC... | CCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGC... | pathogenic | 33,527 |
A genetic alteration at chromosome 2, position 47410256, in gene MSH2 (mutS homolog 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAA... | AAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAA... | pathogenic | 33,532 |
Gene MSH2 (mutS homolog 2) variant at chromosome position 47410260 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | CATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAG... | CATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAG... | pathogenic | 33,534 |
Is the genetic mutation found on chromosome 2 at position 47410276, within the gene MSH2 (mutS homolog 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Lynch_syndrome'] | TTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGG... | TTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGG... | pathogenic | 33,540 |
The genetic variant at chromosome 2, position 47410284, affecting gene MSH2 (mutS homolog 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1', 'Mismatch_repair_cancer_syndrome_1'] | TGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAG... | TGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAG... | pathogenic | 33,543 |
Evaluate if the mutation on chromosome 2 at position 47410289 in MSH2 (mutS homolog 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | TGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAAT... | TGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAAT... | pathogenic | 33,547 |
Mutation found at chromosome 2 position 47410291, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | ATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTA... | ATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTA... | pathogenic | 33,548 |
Determine if the mutation at chromosome 2, position 47410294 in gene MSH2 (mutS homolog 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Carcinoma_of_colon', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | GTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCT... | GTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCT... | pathogenic | 33,549 |
A genetic variant on chromosome 2, position 47410312, affects the gene MSH2 (mutS homolog 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | TGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTA... | TGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTA... | pathogenic | 33,557 |
For chromosome 2, position 47410314, gene MSH2 (mutS homolog 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATT... | TGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATT... | pathogenic | 33,558 |
Classify the chromosome 2 variant at position 47410317 affecting gene MSH2 (mutS homolog 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | AACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTT... | AACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTT... | pathogenic | 33,561 |
Chromosome 2, position 47410342, gene MSH2 (mutS homolog 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Lynch_syndrome'] | TTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTAGAAAAATAAAAATGTG... | TTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTAGAAAAATAAAAATGTG... | pathogenic | 33,578 |
Clinical significance of chromosome 2, position 47410354, gene MSH2 (mutS homolog 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Carcinoma_of_colon', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | TCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTAGAAAAATAAAAATGTGAAGAATTTAATT... | TCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTAGAAAAATAAAAATGTGAAGAATTTAATT... | pathogenic | 33,582 |
Classify the chromosome 2 variant at position 47410356 affecting gene MSH2 (mutS homolog 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | GGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTAGAAAAATAAAAATGTGAAGAATTTAATTGT... | GGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTAGAAAAATAAAAATGTGAAGAATTTAATTGT... | pathogenic | 33,583 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 47410360, gene MSH2 (mutS homolog 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | ATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTAGAAAAATAAAAATGTGAAGAATTTAATTGTGTTT... | ATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTAGAAAAATAAAAATGTGAAGAATTTAATTGTGTTT... | pathogenic | 33,586 |
Variant in gene MSH2 (mutS homolog 2), located at chromosome 2 position 47410364: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | CTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTAGAAAAATAAAAATGTGAAGAATTTAATTGTGTTTTAGT... | CTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTAGAAAAATAAAAATGTGAAGAATTTAATTGTGTTTTAGT... | pathogenic | 33,589 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 47410366, gene MSH2 (mutS homolog 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Lynch_syndrome', 'Lynch_syndrome_1'] | TTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTAGAAAAATAAAAATGTGAAGAATTTAATTGTGTTTTAGTAT... | TTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTAGAAAAATAAAAATGTGAAGAATTTAATTGTGTTTTAGTAT... | pathogenic | 33,591 |
Variant in gene MSH2 (mutS homolog 2), located at chromosome 2 position 47410368: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Mismatch_repair_cancer_syndrome_2'] | ATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTAGAAAAATAAAAATGTGAAGAATTTAATTGTGTTTTAGTATTT... | ATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTAGAAAAATAAAAATGTGAAGAATTTAATTGTGTTTTAGTATTT... | pathogenic | 33,592 |
Considering the genetic mutation at chromosome 2, position 47410368, impacting MSH2 (mutS homolog 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | ATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTAGAAAAATAAAAATGTGAAGAATTTAATTGTGTTTTAGTATTT... | ATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTAGAAAAATAAAAATGTGAAGAATTTAATTGTGTTTTAGTATTT... | pathogenic | 33,593 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 47410369, gene MSH2 (mutS homolog 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTAGAAAAATAAAAATGTGAAGAATTTAATTGTGTTTTAGTATTTT... | TCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTGTAATGTACTTTTTTTTTTTTTAAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGTAATTATCTTCCTTTTTAATTTACTTATTTTTTTAAGAGTAGAAAAATAAAAATGTGAAGAATTTAATTGTGTTTTAGTATTTT... | pathogenic | 33,595 |
Assess the variant on chromosome 2, position 47412406, impacting MSH2 (mutS homolog 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GGGAAACTGAGACAGGTAAGCAAATTGAGTCTAGTGATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGC... | GGGAAACTGAGACAGGTAAGCAAATTGAGTCTAGTGATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGC... | benign | 33,609 |
Variant at chromosome 2, position 47412408, gene MSH2 (mutS homolog 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | GAAACTGAGACAGGTAAGCAAATTGAGTCTAGTGATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAG... | GAAACTGAGACAGGTAAGCAAATTGAGTCTAGTGATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAG... | pathogenic | 33,610 |
Classify the chromosome 2 variant at position 47412414 affecting gene MSH2 (mutS homolog 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | GAGACAGGTAAGCAAATTGAGTCTAGTGATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTT... | GAGACAGGTAAGCAAATTGAGTCTAGTGATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTT... | pathogenic | 33,616 |
Classify the chromosome 2 variant at position 47412415 affecting gene MSH2 (mutS homolog 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | AGACAGGTAAGCAAATTGAGTCTAGTGATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTA... | AGACAGGTAAGCAAATTGAGTCTAGTGATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTA... | pathogenic | 33,617 |
Is chromosome 2, position 47412415, gene MSH2 (mutS homolog 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AGACAGGTAAGCAAATTGAGTCTAGTGATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTA... | AGACAGGTAAGCAAATTGAGTCTAGTGATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTA... | pathogenic | 33,618 |
Variant chromosome 2, position 47412420, gene MSH2 (mutS homolog 2): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1', 'Mismatch_repair_cancer_syndrome_1'] | GGTAAGCAAATTGAGTCTAGTGATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATT... | GGTAAGCAAATTGAGTCTAGTGATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATT... | pathogenic | 33,619 |
Determine if the mutation at chromosome 2, position 47412422 in gene MSH2 (mutS homolog 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | TAAGCAAATTGAGTCTAGTGATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTT... | TAAGCAAATTGAGTCTAGTGATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTT... | pathogenic | 33,622 |
The mutation impacting MSH2 (mutS homolog 2) on chromosome 2 at position 47412442: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1', 'Mismatch_repair_cancer_syndrome_2', 'Muir-Torré_syndrome'] | ATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACT... | ATAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACT... | pathogenic | 33,630 |
A mutation at chromosome position 47412443 on chromosome 2 in gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Lynch_syndrome'] | TAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTT... | TAGAGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTT... | pathogenic | 33,632 |
Does the variant impacting MSH2 (mutS homolog 2) on chromosome 2, position 47412446, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAG... | AGGAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAG... | pathogenic | 33,633 |
Variant at chromosome position 47412448, chromosome 2, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | GAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCC... | GAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCC... | pathogenic | 33,634 |
Variant at chromosome position 47412448, chromosome 2, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Carcinoma_of_colon', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | GAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCC... | GAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCC... | pathogenic | 33,635 |
A genetic variant at chromosome 2, position 47412448, affecting gene MSH2 (mutS homolog 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | GAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCC... | GAGATTCCAGGCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCC... | pathogenic | 33,636 |
Is the variant located on chromosome 2 at position 47412458, gene MSH2 (mutS homolog 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Lynch_syndrome'] | GCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTA... | GCCTAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTA... | pathogenic | 33,640 |
Is the chromosome 2, position 47412461 variant in MSH2 (mutS homolog 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTA... | TAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTA... | pathogenic | 33,642 |
Clinical significance of chromosome 2, position 47412461, gene MSH2 (mutS homolog 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Carcinoma_of_colon', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTA... | TAGGAAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTA... | pathogenic | 33,643 |
The mutation impacting MSH2 (mutS homolog 2) on chromosome 2 at position 47412465: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | AAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTG... | AAAGGCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTG... | pathogenic | 33,645 |
A genetic variant at chromosome 2, position 47412469, affecting gene MSH2 (mutS homolog 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome', 'Lynch_syndrome_1'] | GCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTT... | GCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTT... | pathogenic | 33,647 |
Clinical classification of chromosome 2, position 47412469, gene MSH2 (mutS homolog 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | GCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTT... | GCTCTTTAATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTT... | pathogenic | 33,648 |
Chromosome 2, position 47412476, gene MSH2 (mutS homolog 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Lynch_syndrome'] | AATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAA... | AATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAA... | pathogenic | 33,651 |
Does the genetic variant at chromosome 2, position 47412477, impacting gene MSH2 (mutS homolog 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | ATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAAC... | ATTGACATGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAAC... | pathogenic | 33,652 |
Classify the chromosome 2 variant at position 47412484 affecting gene MSH2 (mutS homolog 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | TGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTC... | TGATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTC... | pathogenic | 33,657 |
Mutation found at chromosome 2 position 47412485, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Lynch_syndrome'] | GATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCT... | GATACTGTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCT... | pathogenic | 33,658 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 47412491, gene MSH2 (mutS homolog 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Lynch_syndrome', 'Lynch_syndrome_1'] | GTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGT... | GTTTCATTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGT... | pathogenic | 33,660 |
Benign or pathogenic: chromosome 2, position 47412497, gene MSH2 (mutS homolog 2) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | TTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATT... | TTTAAGGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATT... | pathogenic | 33,664 |
Is the genetic change at chromosome 2, position 47412502, within gene MSH2 (mutS homolog 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Lynch_syndrome'] | GGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTT... | GGAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTT... | pathogenic | 33,667 |
Determine if the mutation at chromosome 2, position 47412503 in gene MSH2 (mutS homolog 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_nonpolyposis_colon_cancer', 'Lynch_syndrome_1'] | GAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTT... | GAAAAATAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTT... | pathogenic | 33,669 |
Chromosome 2, position 47412509, gene MSH2 (mutS homolog 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | TAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTT... | TAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTT... | pathogenic | 33,672 |
Gene MSH2 (mutS homolog 2) variant at chromosome 2, position 47412509—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | TAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTT... | TAATAAAAAAACTCTTTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTT... | pathogenic | 33,674 |
Does the chromosome 2 mutation at position 47412524 within gene MSH2 (mutS homolog 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Lynch_syndrome'] | TTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTC... | TTTTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTC... | pathogenic | 33,677 |
Clinically, how would you classify the variant at chromosome 2, position 47412526, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | TTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTC... | TTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTC... | pathogenic | 33,678 |
Mutation found at chromosome 2 position 47412526, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTC... | TTTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTC... | pathogenic | 33,679 |
The chromosome 2, position 47412527 genetic variant in gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Lynch_syndrome'] | TTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCG... | TTTTGTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCG... | pathogenic | 33,680 |
Determine whether the variant at chromosome 2, position 47412531, in gene MSH2 (mutS homolog 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Lynch_syndrome'] | GTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCGCTCT... | GTATCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCGCTCT... | pathogenic | 33,682 |
Considering the variant on chromosome 2, location 47412534, involving gene MSH2 (mutS homolog 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Lynch_syndrome'] | TCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCGCTCTGTC... | TCTAATTAAAATAATGTTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCGCTCTGTC... | pathogenic | 33,684 |
Variant at chromosome 2, position 47412550, gene MSH2 (mutS homolog 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC... | TTCTGATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC... | pathogenic | 33,689 |
The chromosome 2, position 47412555 genetic variant in gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | ATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG... | ATGTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG... | pathogenic | 33,691 |
Does the variant impacting MSH2 (mutS homolog 2) on chromosome 2, position 47412557, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTG... | GTTTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTG... | pathogenic | 33,692 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 47412559, gene MSH2 (mutS homolog 2): what disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | TTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCG... | TTACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCG... | pathogenic | 33,694 |
Chromosome 2, position 47412561, gene MSH2 (mutS homolog 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | ACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGAT... | ACAGAAACTTTGTATATTTAATTGGACATTAGAACAAGCTGTTTGTTGTGTAAGATTTATTTTACCTCAGATCTTTTCTCCCCCCTTTCCTTTCTGTCTTGTGTTCCAAAAGAGTAATTATTACGGTAAATATTACTGTAATTATGGATTTATCAAATAAGATGCAGTTCTTTAGCATTTTTTGATAAATCGAGTGGAACTTTAGCCTGTTATTTTACTATTTGTTTTATTTTAACTAAATTCTGATTGTGTCATTTTTTTTTTTTTTTTTTGGGACCGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGAT... | pathogenic | 33,697 |
For chromosome 2, position 47414269, gene MSH2 (mutS homolog 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Lynch_syndrome', 'Lynch_syndrome_1'] | TTTTATATTTTGATGAAAATTTAGTTTATTGATGTAAAAAGTGTATCAGTACATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTAT... | TTTTATATTTTGATGAAAATTTAGTTTATTGATGTAAAAAGTGTATCAGTACATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTAT... | pathogenic | 33,712 |
Clinically, how would you classify the variant at chromosome 2, position 47414282, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TGAAAATTTAGTTTATTGATGTAAAAAGTGTATCAGTACATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGA... | TGAAAATTTAGTTTATTGATGTAAAAAGTGTATCAGTACATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGA... | pathogenic | 33,720 |
Does the variant on chromosome 2 at location 47414283 affecting gene MSH2 (mutS homolog 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1', 'likely other unspecified diseases'] | GAAAATTTAGTTTATTGATGTAAAAAGTGTATCAGTACATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAG... | GAAAATTTAGTTTATTGATGTAAAAAGTGTATCAGTACATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAG... | pathogenic | 33,722 |
Is the genetic change at chromosome 2, position 47414284, within gene MSH2 (mutS homolog 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome', 'Lynch_syndrome_1'] | AAAATTTAGTTTATTGATGTAAAAAGTGTATCAGTACATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGA... | AAAATTTAGTTTATTGATGTAAAAAGTGTATCAGTACATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGA... | pathogenic | 33,724 |
Evaluate the clinical significance of the mutation at chromosome 2, position 47414286 in gene MSH2 (mutS homolog 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | AATTTAGTTTATTGATGTAAAAAGTGTATCAGTACATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAAT... | AATTTAGTTTATTGATGTAAAAAGTGTATCAGTACATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAAT... | pathogenic | 33,729 |
Determine if the mutation at chromosome 2, position 47414291 in gene MSH2 (mutS homolog 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | AGTTTATTGATGTAAAAAGTGTATCAGTACATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGT... | AGTTTATTGATGTAAAAAGTGTATCAGTACATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGT... | pathogenic | 33,732 |
Benign or pathogenic: chromosome 2, position 47414301, gene MSH2 (mutS homolog 2) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TGTAAAAAGTGTATCAGTACATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTA... | TGTAAAAAGTGTATCAGTACATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTA... | pathogenic | 33,735 |
Clinical significance of chromosome 2, position 47414311, gene MSH2 (mutS homolog 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Lynch_syndrome'] | GTATCAGTACATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTATAAATGTGAA... | GTATCAGTACATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTATAAATGTGAA... | pathogenic | 33,741 |
Benign or pathogenic: chromosome 2, position 47414313, gene MSH2 (mutS homolog 2) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | ATCAGTACATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTATAAATGTGAATT... | ATCAGTACATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTATAAATGTGAATT... | pathogenic | 33,742 |
Does the chromosome 2 mutation at position 47414313 within gene MSH2 (mutS homolog 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | ATCAGTACATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTATAAATGTGAATT... | ATCAGTACATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTATAAATGTGAATT... | pathogenic | 33,745 |
Variant chromosome 2, position 47414315, gene MSH2 (mutS homolog 2): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | CAGTACATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTATAAATGTGAATTAC... | CAGTACATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTATAAATGTGAATTAC... | pathogenic | 33,746 |
Assess the variant on chromosome 2, position 47414320, impacting MSH2 (mutS homolog 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | CATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTATAAATGTGAATTACAATAT... | CATCATATCAGTGTCTTGCACATTGTATAAACATTTAATGTAGGTGAATCTGTTATCACTATAGTTATCAATGTTATAATTTTCATTTTTGCTTTTCTTATTCCTTTTCTCATAGTAGTTTAAACTATTTCTTTCAAAATAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTACATGGATTATAAATGTGAATTACAATAT... | pathogenic | 33,750 |
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