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 |
|---|---|---|---|---|---|
Is the variant located on chromosome 2 at position 47475253, gene MSH2 (mutS homolog 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | GCCCAGGCCAGACTCAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGA... | GCCCAGGCCAGACTCAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGA... | pathogenic | 34,675 |
Mutation found at chromosome 2 position 47475256, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | CAGGCCAGACTCAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAAC... | CAGGCCAGACTCAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAAC... | pathogenic | 34,676 |
Clinically, how would you classify the variant at chromosome 2, position 47475260, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Lynch_syndrome'] | CCAGACTCAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACTGGC... | CCAGACTCAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACTGGC... | pathogenic | 34,679 |
Determine if the mutation at chromosome 2, position 47475264 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'] | ACTCAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACTGGCCTAA... | ACTCAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACTGGCCTAA... | pathogenic | 34,681 |
Variant in MSH2 (mutS homolog 2), chromosome 2, position 47475267—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | CAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACTGGCCTAACCA... | CAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACTGGCCTAACCA... | pathogenic | 34,682 |
Is the genetic change at chromosome 2, position 47475267, within 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', 'likely other unspecified diseases'] | CAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACTGGCCTAACCA... | CAAGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACTGGCCTAACCA... | pathogenic | 34,683 |
Gene mutation in MSH2 (mutS homolog 2) at chromosome 2, position 47475269—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | AGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACTGGCCTAACCAAC... | AGCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACTGGCCTAACCAAC... | pathogenic | 34,684 |
Determine whether the variant at chromosome 2, position 47475270, in gene MSH2 (mutS homolog 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Lynch_syndrome'] | GCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACTGGCCTAACCAACA... | GCAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACTGGCCTAACCAACA... | pathogenic | 34,685 |
Regarding the variant found on chromosome 2 at position 47475271 in gene MSH2 (mutS homolog 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Lynch_syndrome', 'Lynch_syndrome_1'] | CAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACTGGCCTAACCAACAT... | CAGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACTGGCCTAACCAACAT... | pathogenic | 34,689 |
Is the variant located on chromosome 2 at position 47475272, gene MSH2 (mutS homolog 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | AGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACTGGCCTAACCAACATG... | AGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACTGGCCTAACCAACATG... | benign | 34,692 |
Clinically, how would you classify the variant at chromosome 2, position 47475272, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | AGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACTGGCCTAACCAACATG... | AGTCTTCCTGCCTTGGCCTCCGAAAGTGTTGGGATTACAGGCGTGAGCCACCCTGCCCAGCCTAGTTTTCTTTTTTTTACTATAAACTTATTCTTGTCAGTATGCTAGCAATTTTACAAGTTTTAAAGTAGTTATAGCAAGTACTTCACTCATGTTTAATTCTTAAAGGCTTCTATTGCTATATAATAGGGTAGTCTGAATTCTTCAAAAGTGTACTGAGGCCAGGTGCAGTAGCTCACACCTATAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAAACTGGCCTAACCAACATG... | benign | 34,693 |
Variant at chromosome position 47476330, chromosome 2, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TTTCAACTTGCTACCTTTTTGCTTACATTTTTCTTATGGTGATTTTGAGGTGTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAG... | TTTCAACTTGCTACCTTTTTGCTTACATTTTTCTTATGGTGATTTTGAGGTGTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAG... | benign | 34,708 |
A mutation at chromosome position 47476340 on chromosome 2 in gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CTACCTTTTTGCTTACATTTTTCTTATGGTGATTTTGAGGTGTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCA... | CTACCTTTTTGCTTACATTTTTCTTATGGTGATTTTGAGGTGTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCA... | benign | 34,709 |
Gene MSH2 (mutS homolog 2) variant at chromosome 2, position 47476350—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | GCTTACATTTTTCTTATGGTGATTTTGAGGTGTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGG... | GCTTACATTTTTCTTATGGTGATTTTGAGGTGTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGG... | benign | 34,710 |
Clinical significance of chromosome 2, position 47476357, gene MSH2 (mutS homolog 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | TTTTTCTTATGGTGATTTTGAGGTGTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTT... | TTTTTCTTATGGTGATTTTGAGGTGTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTT... | pathogenic | 34,715 |
Clinical significance of chromosome 2, position 47476367, gene MSH2 (mutS homolog 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | GGTGATTTTGAGGTGTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTT... | GGTGATTTTGAGGTGTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTT... | pathogenic | 34,725 |
Evaluate if the mutation on chromosome 2 at position 47476367 in MSH2 (mutS homolog 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | GGTGATTTTGAGGTGTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTT... | GGTGATTTTGAGGTGTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTT... | pathogenic | 34,727 |
Assess the variant on chromosome 2, position 47476373, impacting MSH2 (mutS homolog 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | TTTGAGGTGTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGA... | TTTGAGGTGTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGA... | pathogenic | 34,733 |
Regarding the variant found on chromosome 2 at position 47476375 in gene MSH2 (mutS homolog 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Lynch_syndrome'] | TGAGGTGTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGA... | TGAGGTGTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGA... | pathogenic | 34,734 |
Clinical classification of chromosome 2, position 47476381, gene MSH2 (mutS homolog 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Lynch_syndrome'] | GTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGT... | GTCATTCTGGTTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGT... | pathogenic | 34,738 |
Gene MSH2 (mutS homolog 2) variant at chromosome 2, position 47476391—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGT... | TTTCTCAGATACTTAAAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGT... | pathogenic | 34,746 |
Benign or pathogenic: chromosome 2, position 47476406, gene MSH2 (mutS homolog 2) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTT... | AAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTT... | pathogenic | 34,754 |
Located at chromosome 2 position 47476406, the variant affecting gene MSH2 (mutS homolog 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | AAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTT... | AAATATAGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTT... | pathogenic | 34,755 |
Variant chromosome 2, position 47476412, gene MSH2 (mutS homolog 2): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | AGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTC... | AGGAAAAGGTGTGTCTTAAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTC... | pathogenic | 34,758 |
Variant at chromosome position 47476429, chromosome 2, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Lynch_syndrome'] | AAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCC... | AAAATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCC... | pathogenic | 34,770 |
Benign or pathogenic: chromosome 2, position 47476432, gene MSH2 (mutS homolog 2) variant? Disease(s) if pathogenic? | pathogenic; ['Lynch_syndrome'] | ATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCC... | ATTGAGAGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCC... | pathogenic | 34,773 |
Considering the genetic mutation at chromosome 2, position 47476438, impacting MSH2 (mutS homolog 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | AGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTC... | AGAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTC... | pathogenic | 34,779 |
A mutation at chromosome position 47476439 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_1'] | GAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCA... | GAATGTCTTGGATAAGCAGCTGTGTAGTTTTATATTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCA... | pathogenic | 34,781 |
A mutation at chromosome position 47476473 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_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | TTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCCGCCTCAGCCTCCCTAAGTGCTG... | TTTTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCCGCCTCAGCCTCCCTAAGTGCTG... | pathogenic | 34,805 |
Is the genetic variant on chromosome 2, position 47476475, gene MSH2 (mutS homolog 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | TTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCCGCCTCAGCCTCCCTAAGTGCTGGG... | TTGCTGATAAGGGAAGGTACTCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCCGCCTCAGCCTCCCTAAGTGCTGGG... | pathogenic | 34,806 |
Located at chromosome 2 position 47476495, the variant affecting gene MSH2 (mutS homolog 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | TCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCCGCCTCAGCCTCCCTAAGTGCTGGGATTATAGGCGTGAGCCACCC... | TCTATTTTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCCGCCTCAGCCTCCCTAAGTGCTGGGATTATAGGCGTGAGCCACCC... | pathogenic | 34,816 |
Determine if the mutation at chromosome 2, position 47476501 in gene MSH2 (mutS homolog 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Lynch_syndrome'] | TTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCCGCCTCAGCCTCCCTAAGTGCTGGGATTATAGGCGTGAGCCACCCAACCCA... | TTTGTTTTTTGTGTGTTTTTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCCGCCTCAGCCTCCCTAAGTGCTGGGATTATAGGCGTGAGCCACCCAACCCA... | pathogenic | 34,820 |
Regarding the variant at chromosome 2 and position 47476519, affecting gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Lynch_syndrome'] | TTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCCGCCTCAGCCTCCCTAAGTGCTGGGATTATAGGCGTGAGCCACCCAACCCAGCCAGTACTCTGTTTTTG... | TTGTTTGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCCGCCTCAGCCTCCCTAAGTGCTGGGATTATAGGCGTGAGCCACCCAACCCAGCCAGTACTCTGTTTTTG... | pathogenic | 34,827 |
Variant at chromosome position 47476524, chromosome 2, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | TGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCCGCCTCAGCCTCCCTAAGTGCTGGGATTATAGGCGTGAGCCACCCAACCCAGCCAGTACTCTGTTTTTGATAGC... | TGTTTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCCGCCTCAGCCTCCCTAAGTGCTGGGATTATAGGCGTGAGCCACCCAACCCAGCCAGTACTCTGTTTTTGATAGC... | pathogenic | 34,829 |
Variant chromosome 2, position 47476527, gene MSH2 (mutS homolog 2): benign or pathogenic? Disease(s)? | pathogenic; ['Lynch_syndrome'] | TTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCCGCCTCAGCCTCCCTAAGTGCTGGGATTATAGGCGTGAGCCACCCAACCCAGCCAGTACTCTGTTTTTGATAGCTAT... | TTGTTTTTGAGACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCCGCCTCAGCCTCCCTAAGTGCTGGGATTATAGGCGTGAGCCACCCAACCCAGCCAGTACTCTGTTTTTGATAGCTAT... | pathogenic | 34,831 |
Gene mutation in MSH2 (mutS homolog 2) at chromosome 2, position 47476538—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | ACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCCGCCTCAGCCTCCCTAAGTGCTGGGATTATAGGCGTGAGCCACCCAACCCAGCCAGTACTCTGTTTTTGATAGCTATTCACAATGGGA... | ACAGAATTGCCCAGGCTGGAGTGCTGTGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCCGCCTCAGCCTCCCTAAGTGCTGGGATTATAGGCGTGAGCCACCCAACCCAGCCAGTACTCTGTTTTTGATAGCTATTCACAATGGGA... | pathogenic | 34,837 |
Is the genetic change at chromosome 2, position 47476564, within gene MSH2 (mutS homolog 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | TGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCCGCCTCAGCCTCCCTAAGTGCTGGGATTATAGGCGTGAGCCACCCAACCCAGCCAGTACTCTGTTTTTGATAGCTATTCACAATGGGAAAGGATGTAGCAACACATTTTAACCC... | TGGCGCAATCTCAGCTTACTGCAACTTCCACCTTCTGGGTTCATGCAATTCTGGTGCCTCAGCCTCCCAAGTATCTGGGTTTACAGACATGCACCACCATACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCGTGTTACCAGGCTGGTCTTGAATTCCTGGCCCCATGTGATCCCCCGGCCTCATGCGATCTGCCCGCCTCAGCCTCCCTAAGTGCTGGGATTATAGGCGTGAGCCACCCAACCCAGCCAGTACTCTGTTTTTGATAGCTATTCACAATGGGAAAGGATGTAGCAACACATTTTAACCC... | pathogenic | 34,845 |
Is the variant located on chromosome 2 at position 47478280, gene MSH2 (mutS homolog 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | GGTTCTGCCTTTATATGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTG... | GGTTCTGCCTTTATATGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTG... | pathogenic | 34,883 |
Variant in MSH2 (mutS homolog 2), chromosome 2, position 47478281—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch-like_syndrome', 'Lynch_syndrome_1'] | GTTCTGCCTTTATATGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGG... | GTTCTGCCTTTATATGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGG... | pathogenic | 34,885 |
A mutation at chromosome position 47478285 on chromosome 2 in gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Lynch_syndrome'] | TGCCTTTATATGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAAC... | TGCCTTTATATGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAAC... | pathogenic | 34,886 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 47478295, gene MSH2 (mutS homolog 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | TGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATC... | TGCTATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATC... | pathogenic | 34,892 |
Gene MSH2 (mutS homolog 2) variant at chromosome position 47478298 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Lynch_syndrome'] | TATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTC... | TATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTC... | pathogenic | 34,893 |
Variant at chromosome position 47478298, 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'] | TATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTC... | TATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTC... | pathogenic | 34,894 |
Assess the variant on chromosome 2, position 47478299, impacting MSH2 (mutS homolog 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome', 'Lynch_syndrome_1'] | ATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCA... | ATGTCAGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCA... | pathogenic | 34,895 |
Variant in MSH2 (mutS homolog 2), chromosome 2, position 47478304—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | AGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAA... | AGTGTAAACCTACGCGATTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAA... | pathogenic | 34,897 |
Chromosome 2, position 47478321, gene MSH2 (mutS homolog 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Lynch_syndrome'] | TTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCC... | TTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCC... | pathogenic | 34,905 |
Variant at chromosome position 47478321, chromosome 2, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | TTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCC... | TTAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCC... | pathogenic | 34,906 |
Evaluate the clinical significance of the mutation at chromosome 2, position 47478322 in gene MSH2 (mutS homolog 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | TAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCT... | TAATCATCAGTGTACAGTTTAGGACTAACAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCT... | pathogenic | 34,907 |
Variant in gene MSH2 (mutS homolog 2), located at chromosome 2 position 47478350: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Lynch_syndrome'] | CAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCT... | CAATCCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCT... | pathogenic | 34,920 |
Is the genetic mutation found on chromosome 2 at position 47478354, within the gene MSH2 (mutS homolog 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | CCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGA... | CCATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGA... | pathogenic | 34,923 |
Variant at chromosome position 47478355, chromosome 2, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Lynch_syndrome'] | CATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAG... | CATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAG... | pathogenic | 34,924 |
Variant on chromosome 2, at position 47478356, affecting MSH2 (mutS homolog 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | ATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGA... | ATTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGA... | pathogenic | 34,926 |
Does the variant impacting MSH2 (mutS homolog 2) on chromosome 2, position 47478357, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | TTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAA... | TTTATTAGTAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAA... | pathogenic | 34,927 |
Clinically, how would you classify the variant at chromosome 2, position 47478365, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Lynch_syndrome'] | TAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGT... | TAGCAGAAAGAAGTTTAAAATCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGT... | pathogenic | 34,930 |
The genetic variant at chromosome 2, position 47478385, affecting gene MSH2 (mutS homolog 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | TCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGT... | TCTTGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGT... | pathogenic | 34,939 |
A genetic variant at chromosome 2, position 47478388, 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'] | TGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAA... | TGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAA... | pathogenic | 34,940 |
Considering the genetic mutation at chromosome 2, position 47478388, impacting MSH2 (mutS homolog 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome', 'Lynch_syndrome_1'] | TGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAA... | TGCTTTCTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAA... | pathogenic | 34,941 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 47478394, gene MSH2 (mutS homolog 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | CTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATC... | CTGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATC... | pathogenic | 34,944 |
Is the genetic mutation found on chromosome 2 at position 47478395, within the gene MSH2 (mutS homolog 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | TGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCT... | TGATATAATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCT... | pathogenic | 34,946 |
The mutation in gene MSH2 (mutS homolog 2) at chromosome 2, position 47478402—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | ATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATG... | ATTTGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATG... | pathogenic | 34,947 |
The genetic variant at chromosome 2, position 47478405, affecting gene MSH2 (mutS homolog 2): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | TGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTT... | TGTTTTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTT... | pathogenic | 34,949 |
Gene MSH2 (mutS homolog 2) variant at chromosome 2, position 47478409—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | TTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCT... | TTGTAGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCT... | pathogenic | 34,952 |
Is the genetic change at chromosome 2, position 47478420, within gene MSH2 (mutS homolog 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAG... | AATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAG... | pathogenic | 34,955 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 47478420, gene MSH2 (mutS homolog 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAG... | AATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAG... | pathogenic | 34,956 |
Classify the chromosome 2 variant at position 47478420 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'] | AATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAG... | AATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAG... | pathogenic | 34,957 |
A genetic variant at chromosome 2, position 47478422, 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', 'Lynch_syndrome_1'] | TATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTT... | TATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTT... | pathogenic | 34,959 |
Regarding the variant found on chromosome 2 at position 47478423 in gene MSH2 (mutS homolog 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | ATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTG... | ATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTG... | pathogenic | 34,960 |
Regarding the variant at chromosome 2 and position 47478425, affecting gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Lynch_syndrome_1'] | GGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTT... | GGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTT... | pathogenic | 34,961 |
Considering the genetic mutation at chromosome 2, position 47478426, impacting MSH2 (mutS homolog 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | GGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTT... | GGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTT... | pathogenic | 34,962 |
Variant in gene MSH2 (mutS homolog 2), located at chromosome 2 position 47478440: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | ATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTA... | ATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTA... | pathogenic | 34,966 |
Chromosome 2, position 47478445, 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'] | TTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATAC... | TTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATAC... | pathogenic | 34,967 |
Mutation found at chromosome 2 position 47478448, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | GACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTT... | GACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTT... | pathogenic | 34,968 |
Evaluate this variant at chromosome 2, position 47478448, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | GACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTT... | GACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTT... | pathogenic | 34,969 |
Gene MSH2 (mutS homolog 2) variant at chromosome position 47478452 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'] | AACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTAT... | AACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTAT... | pathogenic | 34,971 |
The mutation in gene MSH2 (mutS homolog 2) at chromosome 2, position 47478455—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | TGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGT... | TGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGT... | pathogenic | 34,973 |
For chromosome 2, position 47478466, gene MSH2 (mutS homolog 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Lynch_syndrome'] | TACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGT... | TACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGT... | pathogenic | 34,977 |
A mutation at chromosome position 47478473 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'] | GGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGTGATTGAT... | GGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGTGATTGAT... | pathogenic | 34,980 |
Gene MSH2 (mutS homolog 2) variant at chromosome 2, position 47478476—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | CCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGTGATTGATGGT... | CCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGTGATTGATGGT... | pathogenic | 34,982 |
Evaluate this variant at chromosome 2, position 47478477, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Lynch_syndrome'] | CAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGTGATTGATGGTA... | CAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGTGATTGATGGTA... | pathogenic | 34,985 |
Chromosome 2, position 47478480, gene MSH2 (mutS homolog 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | ATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGTGATTGATGGTAGCT... | ATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGTGATTGATGGTAGCT... | pathogenic | 34,987 |
For chromosome 2, position 47478482, 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'] | TGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGTGATTGATGGTAGCTAC... | TGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGTGATTGATGGTAGCTAC... | pathogenic | 34,989 |
Is the genetic change at chromosome 2, position 47478487, within gene MSH2 (mutS homolog 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Lynch_syndrome'] | GTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGTGATTGATGGTAGCTACGGAAA... | GTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGTGATTGATGGTAGCTACGGAAA... | pathogenic | 34,993 |
Variant in gene MSH2 (mutS homolog 2), located at chromosome 2 position 47478496: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | CATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGTGATTGATGGTAGCTACGGAAAACTTTGATT... | CATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGTGATTGATGGTAGCTACGGAAAACTTTGATT... | pathogenic | 34,995 |
Assess the variant on chromosome 2, position 47478527, impacting MSH2 (mutS homolog 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | CTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGTGATTGATGGTAGCTACGGAAAACTTTGATTTTTAAAATTGTCTCTTTAAGTAGACAATTTA... | CTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTAAGTGCATCTCCTAGTCCCTTGAAGATAGAAATGTATGTCTCTGTCCTGTGAGAAGGAAAAGTATATTTGCAGATTCTCATGTAAAAACATCTGAGAATGTTTGTCTTAGTTTAATAGTTGTTTTCCTGTGGACTTTATATACTTTGTATTGTCTTAAAAGAGTGATTGATGGTAGCTACGGAAAACTTTGATTTTTAAAATTGTCTCTTTAAGTAGACAATTTA... | benign | 35,004 |
Gene MSH2 (mutS homolog 2) variant at chromosome position 47480676 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TGTTATAGAACCCATTTACCCCTTAATTCACAGTCTGGGGGTAGGAACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTC... | TGTTATAGAACCCATTTACCCCTTAATTCACAGTCTGGGGGTAGGAACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTC... | benign | 35,014 |
Regarding the variant found on chromosome 2 at position 47480689 in gene MSH2 (mutS homolog 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | ATTTACCCCTTAATTCACAGTCTGGGGGTAGGAACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGAC... | ATTTACCCCTTAATTCACAGTCTGGGGGTAGGAACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGAC... | pathogenic | 35,022 |
Is the variant located on chromosome 2 at position 47480695, gene MSH2 (mutS homolog 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | CCCTTAATTCACAGTCTGGGGGTAGGAACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGG... | CCCTTAATTCACAGTCTGGGGGTAGGAACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGG... | pathogenic | 35,029 |
The mutation in gene MSH2 (mutS homolog 2) at chromosome 2, position 47480697—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | CTTAATTCACAGTCTGGGGGTAGGAACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCA... | CTTAATTCACAGTCTGGGGGTAGGAACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCA... | pathogenic | 35,031 |
Does the variant on chromosome 2 at location 47480700 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', 'Lynch_syndrome_1'] | AATTCACAGTCTGGGGGTAGGAACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATC... | AATTCACAGTCTGGGGGTAGGAACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATC... | pathogenic | 35,032 |
Is the chromosome 2, position 47480707 variant in MSH2 (mutS homolog 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | AGTCTGGGGGTAGGAACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGT... | AGTCTGGGGGTAGGAACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGT... | pathogenic | 35,035 |
The chromosome 2, position 47480710 genetic variant in gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | CTGGGGGTAGGAACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTC... | CTGGGGGTAGGAACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTC... | pathogenic | 35,037 |
For chromosome 2, position 47480720, gene MSH2 (mutS homolog 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Lynch_syndrome'] | GAACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAA... | GAACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAA... | pathogenic | 35,038 |
Considering the genetic mutation at chromosome 2, position 47480721, 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_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | AACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAA... | AACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAA... | pathogenic | 35,041 |
A genetic variant on chromosome 2, position 47480721, affects the gene MSH2 (mutS homolog 2). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | AACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAA... | AACATGTACATCATATTTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAA... | pathogenic | 35,042 |
Variant in MSH2 (mutS homolog 2), chromosome 2, position 47480737—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | TTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGG... | TTCTGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGG... | pathogenic | 35,045 |
Classify the chromosome 2 variant at position 47480740 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'] | TGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGT... | TGTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGT... | pathogenic | 35,046 |
Gene MSH2 (mutS homolog 2) variant at chromosome 2, position 47480741—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | GTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTG... | GTATCTCATAGTAGGACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTG... | pathogenic | 35,047 |
Is chromosome 2, position 47480756, gene MSH2 (mutS homolog 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Lynch_syndrome'] | ACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGG... | ACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGG... | pathogenic | 35,050 |
Variant chromosome 2, position 47480756, gene MSH2 (mutS homolog 2): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | ACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGG... | ACCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGG... | pathogenic | 35,051 |
Does the genetic variant at chromosome 2, position 47480757, impacting gene MSH2 (mutS homolog 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGC... | CCACTCATTCTAAAGCATTCACAGAAAGAATTATCTGTACTCTTTTTGGGACAGAATCTCGTTCTGTTGCCCAGGCTGGAGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTCTCGAATTCCTGACCTCAGGCAATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGC... | pathogenic | 35,054 |
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