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 |
|---|---|---|---|---|---|
Regarding the variant found on chromosome 2 at position 47798624 in gene MSH6 (mutS homolog 6): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | GTTGTATTTTGCATTCATAAGAATAGATGTTAAATAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGA... | GTTGTATTTTGCATTCATAAGAATAGATGTTAAATAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGA... | pathogenic | 35,554 |
A genetic variant at chromosome 2, position 47798625, affecting gene MSH6 (mutS homolog 6)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TTGTATTTTGCATTCATAAGAATAGATGTTAAATAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAG... | TTGTATTTTGCATTCATAAGAATAGATGTTAAATAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAG... | pathogenic | 35,558 |
Is the variant located on chromosome 2 at position 47798626, gene MSH6 (mutS homolog 6), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | TGTATTTTGCATTCATAAGAATAGATGTTAAATAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGG... | TGTATTTTGCATTCATAAGAATAGATGTTAAATAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGG... | pathogenic | 35,559 |
The mutation impacting MSH6 (mutS homolog 6) on chromosome 2 at position 47798630: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | TTTTGCATTCATAAGAATAGATGTTAAATAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACT... | TTTTGCATTCATAAGAATAGATGTTAAATAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACT... | pathogenic | 35,560 |
Chromosome 2, position 47798633, gene MSH6 (mutS homolog 6): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1', 'Lynch_syndrome_5', 'MSH6-related_disorder', 'Mismatch_repair_cancer_syndrome_3'] | TGCATTCATAAGAATAGATGTTAAATAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGG... | TGCATTCATAAGAATAGATGTTAAATAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGG... | pathogenic | 35,562 |
Mutation found at chromosome 2 position 47798645, gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | AATAGATGTTAAATAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGT... | AATAGATGTTAAATAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGT... | pathogenic | 35,566 |
Benign or pathogenic: chromosome 2, position 47798646, gene MSH6 (mutS homolog 6) variant? Disease(s) if pathogenic? | pathogenic; ['Lynch_syndrome_5'] | ATAGATGTTAAATAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTG... | ATAGATGTTAAATAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTG... | pathogenic | 35,568 |
Is chromosome 2, position 47798656, gene MSH6 (mutS homolog 6) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AATAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCA... | AATAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCA... | pathogenic | 35,571 |
Considering the variant on chromosome 2, location 47798657, involving gene MSH6 (mutS homolog 6), 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'] | ATAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAA... | ATAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAA... | pathogenic | 35,572 |
Gene MSH6 (mutS homolog 6) variant at chromosome position 47798658 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | TAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAG... | TAAACCTTGAAATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAG... | pathogenic | 35,574 |
Variant at chromosome position 47798669, chromosome 2, gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | ATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACT... | ATACAACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACT... | pathogenic | 35,576 |
For chromosome 2, position 47798674, gene MSH6 (mutS homolog 6): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | ACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATT... | ACCTTGGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATT... | pathogenic | 35,578 |
Assess the variant on chromosome 2, position 47798679, impacting MSH6 (mutS homolog 6): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | GGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGC... | GGCTCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGC... | pathogenic | 35,581 |
Determine if the mutation at chromosome 2, position 47798682 in gene MSH6 (mutS homolog 6) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAG... | TCAAACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAG... | pathogenic | 35,582 |
Evaluate if the mutation on chromosome 2 at position 47798685 in MSH6 (mutS homolog 6) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Lynch_syndrome_5'] | AACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGT... | AACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGT... | pathogenic | 35,583 |
Variant on chromosome 2, at position 47798685, affecting MSH6 (mutS homolog 6): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | AACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGT... | AACGTTAATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGT... | pathogenic | 35,584 |
Is the genetic change at chromosome 2, position 47798691, within gene MSH6 (mutS homolog 6) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | AATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGA... | AATGGTCATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGA... | pathogenic | 35,586 |
The chromosome 2, position 47798698 genetic variant in gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | ATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAA... | ATGGATAAAGTGAATTAAAACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAA... | pathogenic | 35,588 |
Gene mutation in MSH6 (mutS homolog 6) at chromosome 2, position 47798717—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_5', 'Uterine_corpus_cancer'] | ACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAA... | ACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAA... | pathogenic | 35,594 |
A mutation at chromosome position 47798717 on chromosome 2 in gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_5', 'Malignant_tumor_of_breast'] | ACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAA... | ACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAA... | pathogenic | 35,595 |
Variant at chromosome 2, position 47798717, gene MSH6 (mutS homolog 6): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | ACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAA... | ACTTGTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAA... | pathogenic | 35,596 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 47798721, gene MSH6 (mutS homolog 6). What disease(s) is it linked to if pathogenic? | pathogenic; ['Lynch_syndrome'] | GTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAAT... | GTTAGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAAT... | pathogenic | 35,597 |
Does the variant on chromosome 2 at location 47798724 affecting gene MSH6 (mutS homolog 6) 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_5'] | AGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTT... | AGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTT... | pathogenic | 35,598 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 47798724, gene MSH6 (mutS homolog 6): what disease(s) if pathogenic? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_5'] | AGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTT... | AGGGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTT... | pathogenic | 35,600 |
Assess the variant on chromosome 2, position 47798726, impacting MSH6 (mutS homolog 6): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | GGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTAT... | GGGCCAGGTGTGGTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTAT... | pathogenic | 35,603 |
Is the chromosome 2, position 47798738 variant in MSH6 (mutS homolog 6) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | GTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAA... | GTGGTTAATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAA... | pathogenic | 35,608 |
Is chromosome 2, position 47798744, gene MSH6 (mutS homolog 6) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | AATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGA... | AATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGA... | pathogenic | 35,610 |
Variant in gene MSH6 (mutS homolog 6), located at chromosome 2 position 47798744: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Lynch_syndrome', 'Lynch_syndrome_5'] | AATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGA... | AATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGA... | pathogenic | 35,611 |
Does the variant impacting MSH6 (mutS homolog 6) on chromosome 2, position 47798745, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | ATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGAT... | ATGCCTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGAT... | pathogenic | 35,613 |
Evaluate if the mutation on chromosome 2 at position 47798749 in MSH6 (mutS homolog 6) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | CTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAAT... | CTATAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAAT... | pathogenic | 35,614 |
Variant on chromosome 2, at position 47798752, affecting MSH6 (mutS homolog 6): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | TAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTA... | TAATCCCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTA... | pathogenic | 35,616 |
A genetic variant on chromosome 2, position 47798757, affects the gene MSH6 (mutS homolog 6). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACA... | CCAGCACTTTAGGAAGCTGAGGCAGTTGGATGTCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACA... | pathogenic | 35,619 |
Mutation found at chromosome 2 position 47798789, gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | TCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTT... | TCCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTT... | pathogenic | 35,626 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 47798790, gene MSH6 (mutS homolog 6). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTT... | CCTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTT... | pathogenic | 35,628 |
Evaluate the clinical significance of the mutation at chromosome 2, position 47798811 in gene MSH6 (mutS homolog 6): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTT... | CCAGCCTGGCCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTT... | pathogenic | 35,634 |
Does the variant on chromosome 2 at location 47798820 affecting gene MSH6 (mutS homolog 6) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | CCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTT... | CCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTT... | pathogenic | 35,637 |
Is the genetic mutation found on chromosome 2 at position 47798820, within the gene MSH6 (mutS homolog 6), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | CCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTT... | CCAACACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTT... | pathogenic | 35,639 |
Variant on chromosome 2, at position 47798824, affecting MSH6 (mutS homolog 6): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | CACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTA... | CACAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTA... | pathogenic | 35,641 |
For chromosome 2, position 47798826, gene MSH6 (mutS homolog 6): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | CAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAA... | CAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAA... | pathogenic | 35,642 |
Considering the genetic mutation at chromosome 2, position 47798826, impacting MSH6 (mutS homolog 6): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Endometrial_carcinoma', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | CAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAA... | CAGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAA... | pathogenic | 35,643 |
Variant in MSH6 (mutS homolog 6), chromosome 2, position 47798827—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_5'] | AGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAA... | AGTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAA... | pathogenic | 35,644 |
Regarding the variant found on chromosome 2 at position 47798828 in gene MSH6 (mutS homolog 6): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | GTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAAC... | GTGAAACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAAC... | pathogenic | 35,645 |
Variant in gene MSH6 (mutS homolog 6), located at chromosome 2 position 47798833: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | ACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTT... | ACCCTGTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTT... | pathogenic | 35,650 |
Variant at chromosome 2, position 47798838, gene MSH6 (mutS homolog 6): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGAT... | GTTTCTATAAAAAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGAT... | pathogenic | 35,653 |
Benign or pathogenic: chromosome 2, position 47798849, gene MSH6 (mutS homolog 6) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | AAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTT... | AAATACAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTT... | pathogenic | 35,657 |
Variant chromosome 2, position 47798854, gene MSH6 (mutS homolog 6): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | CAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTA... | CAAAAATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTA... | pathogenic | 35,663 |
Does the chromosome 2 mutation at position 47798861 within gene MSH6 (mutS homolog 6) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | TAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATC... | TAGCTGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATC... | pathogenic | 35,665 |
The mutation impacting MSH6 (mutS homolog 6) on chromosome 2 at position 47798865: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | TGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCT... | TGGGCGTGGTGGCACACACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCT... | pathogenic | 35,666 |
A mutation at chromosome position 47798881 on chromosome 2 in gene MSH6 (mutS homolog 6): 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_5'] | CACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTG... | CACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTG... | pathogenic | 35,672 |
Clinical significance of chromosome 2, position 47798881, gene MSH6 (mutS homolog 6): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | CACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTG... | CACCTGTAGTCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTG... | pathogenic | 35,673 |
Variant at chromosome position 47798890, chromosome 2, gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | TCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATG... | TCCCAACCACTTGGGAGGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATG... | pathogenic | 35,678 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 47798906, gene MSH6 (mutS homolog 6). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAAT... | GGCTGAGGCATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAAT... | pathogenic | 35,682 |
Is the chromosome 2, position 47798914 variant in MSH6 (mutS homolog 6) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAG... | CATGAGAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAG... | pathogenic | 35,686 |
Chromosome 2, position 47798919, gene MSH6 (mutS homolog 6): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | GAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGG... | GAATTGCTTGAACTTGGGAGGCAGAGGGACTTGGGAGGCAGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGG... | pathogenic | 35,688 |
Determine if the mutation at chromosome 2, position 47798958 in gene MSH6 (mutS homolog 6) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | AGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCA... | AGAGGGTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCA... | pathogenic | 35,703 |
Clinical significance of chromosome 2, position 47798963, gene MSH6 (mutS homolog 6): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTA... | GTGTAGTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTA... | pathogenic | 35,704 |
The mutation impacting MSH6 (mutS homolog 6) on chromosome 2 at position 47798968: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | GTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAG... | GTGAGCCAAGATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAG... | pathogenic | 35,706 |
A genetic alteration at chromosome 2, position 47798977, in gene MSH6 (mutS homolog 6)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Lynch_syndrome'] | GATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCT... | GATCGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCT... | pathogenic | 35,711 |
Chromosome 2, position 47798980, gene MSH6 (mutS homolog 6): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Endometrial_carcinoma', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | CGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAA... | CGCACCACTGCATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAA... | pathogenic | 35,712 |
Is the chromosome 2, position 47798990 variant in MSH6 (mutS homolog 6) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Endometrial_carcinoma', 'Lynch_syndrome_5'] | CATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCAT... | CATTCCAGCCAGGGTGACAGAGCAAGAAGACTGTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCAT... | pathogenic | 35,716 |
Evaluate if the mutation on chromosome 2 at position 47799022 in MSH6 (mutS homolog 6) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_5'] | GTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCC... | GTCAACAACAACAAAAAATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCC... | pathogenic | 35,724 |
Chromosome 2, position 47799039, gene MSH6 (mutS homolog 6): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | ATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGA... | ATGTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGA... | pathogenic | 35,731 |
A genetic variant at chromosome 2, position 47799041, affecting gene MSH6 (mutS homolog 6)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | GTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATA... | GTTATAGAAGTGAAAAAAATTGATTAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATA... | pathogenic | 35,732 |
Chromosome 2, position 47799065, gene MSH6 (mutS homolog 6): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Lynch_syndrome'] | TAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTG... | TAATTTAGAACAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTG... | pathogenic | 35,738 |
A genetic alteration at chromosome 2, position 47799075, in gene MSH6 (mutS homolog 6)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | CAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAA... | CAAGCTTGTCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAA... | pathogenic | 35,741 |
Gene MSH6 (mutS homolog 6) variant at chromosome 2, position 47799083—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Lynch_syndrome'] | TCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGG... | TCCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGG... | pathogenic | 35,744 |
Mutation at chromosome 2, position 47799084, within MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | CCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGT... | CCAGTCTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGT... | pathogenic | 35,745 |
Is the genetic variant on chromosome 2, position 47799089, gene MSH6 (mutS homolog 6), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_5'] | CTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAA... | CTGTGGCCCAGGATGGCGTTTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAA... | pathogenic | 35,747 |
A genetic variant on chromosome 2, position 47799108, affects the gene MSH6 (mutS homolog 6). 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_5'] | TTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTAT... | TTAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTAT... | pathogenic | 35,751 |
A genetic variant at chromosome 2, position 47799109, affecting gene MSH6 (mutS homolog 6)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATC... | TAAATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATC... | pathogenic | 35,752 |
Benign or pathogenic: chromosome 2, position 47799111, gene MSH6 (mutS homolog 6) variant? Disease(s) if pathogenic? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1', 'Lynch_syndrome_5'] | AATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAG... | AATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAG... | pathogenic | 35,753 |
Considering the genetic mutation at chromosome 2, position 47799112, impacting MSH6 (mutS homolog 6): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | ATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGA... | ATCAGCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGA... | pathogenic | 35,755 |
Clinical significance of chromosome 2, position 47799116, gene MSH6 (mutS homolog 6): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5', 'Mismatch_repair_cancer_syndrome_3'] | GCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTC... | GCCCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTC... | pathogenic | 35,756 |
Gene mutation in MSH6 (mutS homolog 6) at chromosome 2, position 47799118—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_5'] | CCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTA... | CCAACACAAATTTGTAAACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTA... | pathogenic | 35,759 |
The genetic variant at chromosome 2, position 47799135, affecting gene MSH6 (mutS homolog 6): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | ACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTA... | ACTTTCTTAAAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTA... | pathogenic | 35,763 |
Does the variant impacting MSH6 (mutS homolog 6) on chromosome 2, position 47799144, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | AAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCA... | AAACATTTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCA... | pathogenic | 35,767 |
Gene MSH6 (mutS homolog 6) variant at chromosome 2, position 47799150—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Inherited_MMR_deficiency_(Lynch_syndrome)', 'Lynch_syndrome', 'Lynch_syndrome_5'] | TTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGC... | TTTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGC... | pathogenic | 35,770 |
A genetic variant on chromosome 2, position 47799151, affects the gene MSH6 (mutS homolog 6). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_5'] | TTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCC... | TTGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCC... | pathogenic | 35,771 |
Gene MSH6 (mutS homolog 6) variant at chromosome position 47799152 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_5'] | TGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCT... | TGTGATTTGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCT... | pathogenic | 35,772 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 47799159, gene MSH6 (mutS homolog 6): what disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | TGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTG... | TGTTGTTGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTG... | pathogenic | 35,774 |
A genetic alteration at chromosome 2, position 47799165, in gene MSH6 (mutS homolog 6)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome'] | TGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAA... | TGTTGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAA... | pathogenic | 35,778 |
Is chromosome 2, position 47799168, gene MSH6 (mutS homolog 6) 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_5'] | TGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAA... | TGTTTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAA... | pathogenic | 35,780 |
Assess the variant on chromosome 2, position 47799171, impacting MSH6 (mutS homolog 6): 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_5'] | TTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATA... | TTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATA... | pathogenic | 35,782 |
Determine if the mutation at chromosome 2, position 47799171 in gene MSH6 (mutS homolog 6) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Endometrial_carcinoma', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_5'] | TTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATA... | TTAGCTCATCAGCTATCATTAGCATTAGTGTATTTTATGTGTGGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATA... | pathogenic | 35,785 |
Does the variant on chromosome 2 at location 47799213 affecting gene MSH6 (mutS homolog 6) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | GGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGAT... | GGCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGAT... | pathogenic | 35,798 |
Regarding the variant found on chromosome 2 at position 47799214 in gene MSH6 (mutS homolog 6): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5', 'MSH6-related_disorder'] | GCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATG... | GCCTAAGACAATTCTTCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATG... | pathogenic | 35,799 |
A genetic alteration at chromosome 2, position 47799229, in gene MSH6 (mutS homolog 6)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | TCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTG... | TCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTG... | pathogenic | 35,811 |
Is the genetic mutation found on chromosome 2 at position 47799229, within the gene MSH6 (mutS homolog 6), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | TCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTG... | TCCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTG... | pathogenic | 35,812 |
Gene MSH6 (mutS homolog 6) variant at chromosome position 47799230 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | CCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGG... | CCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGG... | pathogenic | 35,813 |
Clinical significance of chromosome 2, position 47799230, gene MSH6 (mutS homolog 6): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms'] | CCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGG... | CCAGTGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGG... | pathogenic | 35,814 |
Variant chromosome 2, position 47799234, gene MSH6 (mutS homolog 6): benign or pathogenic? Disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome', 'Lynch_syndrome_5'] | TGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGA... | TGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGA... | pathogenic | 35,816 |
A genetic variant at chromosome 2, position 47799234, affecting gene MSH6 (mutS homolog 6)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome', 'Lynch_syndrome_5'] | TGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGA... | TGTGGCCCAGGGAAGCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGA... | pathogenic | 35,817 |
Located at chromosome 2 position 47799248, the variant affecting gene MSH6 (mutS homolog 6)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Endometrial_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Lynch_syndrome_5'] | GCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGAGCAAACACTAGAAC... | GCTGAAAGATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGAGCAAACACTAGAAC... | pathogenic | 35,822 |
Gene MSH6 (mutS homolog 6) variant at chromosome position 47799256 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | ATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGAGCAAACACTAGAACCAGTATAA... | ATCATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGAGCAAACACTAGAACCAGTATAA... | pathogenic | 35,827 |
Evaluate this variant at chromosome 2, position 47799258, gene MSH6 (mutS homolog 6): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Lynch_syndrome'] | CATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGAGCAAACACTAGAACCAGTATAAGT... | CATTATCCTCTGATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGAGCAAACACTAGAACCAGTATAAGT... | pathogenic | 35,829 |
The mutation in gene MSH6 (mutS homolog 6) at chromosome 2, position 47799269—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | GATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGAGCAAACACTAGAACCAGTATAAGTTGCTTACTGCT... | GATCTATCATATTAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGAGCAAACACTAGAACCAGTATAAGTTGCTTACTGCT... | pathogenic | 35,834 |
Classify the chromosome 2 variant at position 47799281 affecting gene MSH6 (mutS homolog 6) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGAGCAAACACTAGAACCAGTATAAGTTGCTTACTGCTTTCTTATGCTAT... | TAATGAGCTGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGAGCAAACACTAGAACCAGTATAAGTTGCTTACTGCTTTCTTATGCTAT... | pathogenic | 35,838 |
Is the genetic mutation found on chromosome 2 at position 47799289, within the gene MSH6 (mutS homolog 6), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | TGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGAGCAAACACTAGAACCAGTATAAGTTGCTTACTGCTTTCTTATGCTATTAATGAGC... | TGCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGAGCAAACACTAGAACCAGTATAAGTTGCTTACTGCTTTCTTATGCTATTAATGAGC... | pathogenic | 35,846 |
Does the genetic variant at chromosome 2, position 47799290, impacting gene MSH6 (mutS homolog 6), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_5'] | GCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGAGCAAACACTAGAACCAGTATAAGTTGCTTACTGCTTTCTTATGCTATTAATGAGCA... | GCATCCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGAGCAAACACTAGAACCAGTATAAGTTGCTTACTGCTTTCTTATGCTATTAATGAGCA... | pathogenic | 35,847 |
Gene MSH6 (mutS homolog 6) variant at chromosome 2, position 47799294—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_5'] | CCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGAGCAAACACTAGAACCAGTATAAGTTGCTTACTGCTTTCTTATGCTATTAATGAGCATATC... | CCTAAAAGACATTCATCTATAACTAAGCTCAGTTTCATGTTTTGTTCCTTTTTCAATAGATAAGATAGGGAATGAGCAAGTTAATAAAGTGGGTATTTTAATTTTAAGGTTGAAACTAAGGATCATAACATTATCAGAGGTCTAGAACTGGATGGCAGCTACAGAGATCATTTAGCCTAATACTGGTTTAACAAATAATCCGGGAGATCCGTGATATGTGAATGTGCTAGGCCTGAGATGAGACAGCCAATTGTGGAAGAGCAAACACTAGAACCAGTATAAGTTGCTTACTGCTTTCTTATGCTATTAATGAGCATATC... | pathogenic | 35,850 |
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