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 |
|---|---|---|---|---|---|
Mutation found at chromosome 2 position 46297848, gene EPAS1: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACTCCCGTCTCTACTAAAAATACAAAAATTAGCTGAGGGTGGTGGTGGGCGCCTTTAATTCCAGTTACTCCGGAGGCTGAGCCACAAGAATCGCGGGAAGCGGAGGTTGCAGTGAGTCGAGATGGGGCCACAGCACTCCAGCCTGGGCGACAGAGTGGGACTCAGTCTCAAAAAAAAAAAAAAAGTATTTCCCAATTCTTCGTCAGTTTTTGCCCTCTCCCCACTTCGCCTTCTCCAGGCTCCTGAAAAGTATCTCCCCCAACCCTTTCTGTGTA... | CACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACTCCCGTCTCTACTAAAAATACAAAAATTAGCTGAGGGTGGTGGTGGGCGCCTTTAATTCCAGTTACTCCGGAGGCTGAGCCACAAGAATCGCGGGAAGCGGAGGTTGCAGTGAGTCGAGATGGGGCCACAGCACTCCAGCCTGGGCGACAGAGTGGGACTCAGTCTCAAAAAAAAAAAAAAAGTATTTCCCAATTCTTCGTCAGTTTTTGCCCTCTCCCCACTTCGCCTTCTCCAGGCTCCTGAAAAGTATCTCCCCCAACCCTTTCTGTGTA... | benign | 32,804 |
Variant in gene EPAS1 (endothelial PAS domain protein 1), located at chromosome 2 position 46356137: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CTTCTTGAGGAATAACAGCAGGTAACCCAAAGCTTAAATTTAGAGGCTCCAGGAAAAAGATAAAAGAGAAACCCAGTTCCCTTGCAGAAAGGCCCTTGAACGACATTTCACAGCATTGATGTGTCCCTGGCCAAGTGGCCCATAAATTGAATTGCATTCTACATTCCTTAGAATAGTCTCCATTTGGAAGACTCCTTTTAGTTCAGTGAATGTTAATGTTTGCAACTGACATATTACTCTCATCCACTTGTTCTGTAAATCAAGTGAGGCATATTTTGATTGATGTTTGCACTGGATAAATACAAATTTTCATAAGTAAA... | CTTCTTGAGGAATAACAGCAGGTAACCCAAAGCTTAAATTTAGAGGCTCCAGGAAAAAGATAAAAGAGAAACCCAGTTCCCTTGCAGAAAGGCCCTTGAACGACATTTCACAGCATTGATGTGTCCCTGGCCAAGTGGCCCATAAATTGAATTGCATTCTACATTCCTTAGAATAGTCTCCATTTGGAAGACTCCTTTTAGTTCAGTGAATGTTAATGTTTGCAACTGACATATTACTCTCATCCACTTGTTCTGTAAATCAAGTGAGGCATATTTTGATTGATGTTTGCACTGGATAAATACAAATTTTCATAAGTAAA... | benign | 32,812 |
Evaluate this variant at chromosome 2, position 46356142, gene EPAS1 (endothelial PAS domain protein 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | TGAGGAATAACAGCAGGTAACCCAAAGCTTAAATTTAGAGGCTCCAGGAAAAAGATAAAAGAGAAACCCAGTTCCCTTGCAGAAAGGCCCTTGAACGACATTTCACAGCATTGATGTGTCCCTGGCCAAGTGGCCCATAAATTGAATTGCATTCTACATTCCTTAGAATAGTCTCCATTTGGAAGACTCCTTTTAGTTCAGTGAATGTTAATGTTTGCAACTGACATATTACTCTCATCCACTTGTTCTGTAAATCAAGTGAGGCATATTTTGATTGATGTTTGCACTGGATAAATACAAATTTTCATAAGTAAATGTCT... | TGAGGAATAACAGCAGGTAACCCAAAGCTTAAATTTAGAGGCTCCAGGAAAAAGATAAAAGAGAAACCCAGTTCCCTTGCAGAAAGGCCCTTGAACGACATTTCACAGCATTGATGTGTCCCTGGCCAAGTGGCCCATAAATTGAATTGCATTCTACATTCCTTAGAATAGTCTCCATTTGGAAGACTCCTTTTAGTTCAGTGAATGTTAATGTTTGCAACTGACATATTACTCTCATCCACTTGTTCTGTAAATCAAGTGAGGCATATTTTGATTGATGTTTGCACTGGATAAATACAAATTTTCATAAGTAAATGTCT... | benign | 32,817 |
Is the genetic change at chromosome 2, position 46380723, within gene EPAS1 (endothelial PAS domain protein 1) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TATTACACATCTTTGGATAACGACCTGAAGATTGAAGTGATTGAGAAGCTCTTCGCCATGGACACAGAGGCCAAGGACCAATGCAGTACCCAGGTAGATGGCTGTGGAGATCAGGCTAGGGTGTGTGCCTGCTGTCTGGTGGACAGCAAAGGCTCACATCCATTCTTGTAGCCTCATCCCTTTGTTGTAAAGAGCAGTGGAGACGTTTGGCCAAGGCCCAGGTCCCCTAAAGAGGTAGGGGTACAGGGTAATGGAGCCTGTGGTCACCCCCTCCTCCCACTGTCAAATCCAGCTCTTCCAGCATATGTGTCTCCTACTTA... | TATTACACATCTTTGGATAACGACCTGAAGATTGAAGTGATTGAGAAGCTCTTCGCCATGGACACAGAGGCCAAGGACCAATGCAGTACCCAGGTAGATGGCTGTGGAGATCAGGCTAGGGTGTGTGCCTGCTGTCTGGTGGACAGCAAAGGCTCACATCCATTCTTGTAGCCTCATCCCTTTGTTGTAAAGAGCAGTGGAGACGTTTGGCCAAGGCCCAGGTCCCCTAAAGAGGTAGGGGTACAGGGTAATGGAGCCTGTGGTCACCCCCTCCTCCCACTGTCAAATCCAGCTCTTCCAGCATATGTGTCTCCTACTTA... | benign | 32,890 |
Is the variant located on chromosome 2 at position 46619669, gene CRIPT (CXXC repeat containing interactor of PDZ3 domain), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Rothmund-Thomson_syndrome,_type_3'] | GATCTTTCCTTTCTATTCATGTAAGAAGTATTGTTCTCCTGCCAAATGCTAGACACTAGAACCAAAGACTAAGGACTTTGCCTTATTCATTCTCATTAGTCATTATGCCAGGATATGGCTTAGAGTAAGCCCAGAAGATGCTTGAATTGAAAATCAACGTAAGTGCAAATTATTATTTCCCTAACTTAAAACCTTTAATAAATTCTCAGTGTGCAGAGAATAATTTGGGGATTCTATATTTGGAACCTGGCGTTCAGGACCCTCCACACTAAGGCCCCAACTTATTTTTCCAGCTTCATCTTCACTGAGGCTTATCCTCT... | GATCTTTCCTTTCTATTCATGTAAGAAGTATTGTTCTCCTGCCAAATGCTAGACACTAGAACCAAAGACTAAGGACTTTGCCTTATTCATTCTCATTAGTCATTATGCCAGGATATGGCTTAGAGTAAGCCCAGAAGATGCTTGAATTGAAAATCAACGTAAGTGCAAATTATTATTTCCCTAACTTAAAACCTTTAATAAATTCTCAGTGTGCAGAGAATAATTTGGGGATTCTATATTTGGAACCTGGCGTTCAGGACCCTCCACACTAAGGCCCCAACTTATTTTTCCAGCTTCATCTTCACTGAGGCTTATCCTCT... | pathogenic | 32,926 |
Variant in gene TTC7A (tetratricopeptide repeat domain 7A), located at chromosome 2 position 46950367: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Gastrointestinal_defects_and_immunodeficiency_syndrome_1', 'Multiple_gastrointestinal_atresias'] | TGGCTCTGACTGACTGGATCTATGGGGATGTTCAAAAATAATTTTGATGTACGTTGCCAAATTACCCTAGAGGTTCTACCAACTTATAGTCTGCCAGCAATGAATGATAGTTTGAACCAGGTACTTTTTTGACCATTTCCTTAAAATGTTAATTTTAAAAGTCATGAGGTACATAGCAAAGGATCCCATAACAGGTGCCTTCAGAACGAAACCCCCCTGCGATGGTGTTCTTGGGATTCTGGGCTTTAGAACCGTTCTCTGTGGGGAATCTCCCTTACGGTGAGAGATTCTTCTTCAGAGGCATGAAGTTTTTTGTGTTT... | TGGCTCTGACTGACTGGATCTATGGGGATGTTCAAAAATAATTTTGATGTACGTTGCCAAATTACCCTAGAGGTTCTACCAACTTATAGTCTGCCAGCAATGAATGATAGTTTGAACCAGGTACTTTTTTGACCATTTCCTTAAAATGTTAATTTTAAAAGTCATGAGGTACATAGCAAAGGATCCCATAACAGGTGCCTTCAGAACGAAACCCCCCTGCGATGGTGTTCTTGGGATTCTGGGCTTTAGAACCGTTCTCTGTGGGGAATCTCCCTTACGGTGAGAGATTCTTCTTCAGAGGCATGAAGTTTTTTGTGTTT... | pathogenic | 32,967 |
Considering the variant on chromosome 2, location 46950490, involving gene TTC7A (tetratricopeptide repeat domain 7A), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Gastrointestinal_defects_and_immunodeficiency_syndrome_1', 'Multiple_gastrointestinal_atresias'] | CTTTTTTGACCATTTCCTTAAAATGTTAATTTTAAAAGTCATGAGGTACATAGCAAAGGATCCCATAACAGGTGCCTTCAGAACGAAACCCCCCTGCGATGGTGTTCTTGGGATTCTGGGCTTTAGAACCGTTCTCTGTGGGGAATCTCCCTTACGGTGAGAGATTCTTCTTCAGAGGCATGAAGTTTTTTGTGTTTTTCTAAAGACGAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTTGAGCAATTCTTCCACCTCAGCCTCCCAAGAAGCTGGGACTACAGGCTTGCACTACTGTGCCCAGCTAA... | CTTTTTTGACCATTTCCTTAAAATGTTAATTTTAAAAGTCATGAGGTACATAGCAAAGGATCCCATAACAGGTGCCTTCAGAACGAAACCCCCCTGCGATGGTGTTCTTGGGATTCTGGGCTTTAGAACCGTTCTCTGTGGGGAATCTCCCTTACGGTGAGAGATTCTTCTTCAGAGGCATGAAGTTTTTTGTGTTTTTCTAAAGACGAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTTGAGCAATTCTTCCACCTCAGCCTCCCAAGAAGCTGGGACTACAGGCTTGCACTACTGTGCCCAGCTAA... | pathogenic | 32,971 |
Clinical classification of chromosome 2, position 46974852, gene TTC7A: benign or pathogenic? Disease(s) if pathogenic? | benign | TGTTCTAGGGTTGTGGTTGTCCAAAAAGGTTCACATTTGCCCTCGTGGAGCTTTCAGCTAGTTGGAGAGAGAAGAGCTGGCCGGAGATGACCAAAATATAGTGTAGAAAGTGGTGAGCACCAGGAGGGTGGATGTTTTTCTTCTAACAACTGGAAATGTAACCAAGTAACCCCATCTTCAGGCCAGAATTCACTGTGGCCCAGATGGTATTGGGTCCAGATAGTATTATGGTAAAACATCCTCTTTTTCCTAGTCATGGGCTCACAACTGTATGCTTTTCAATTAACCAAAATGCACCCCGAGGGGCTCTTTGAGGGGAC... | TGTTCTAGGGTTGTGGTTGTCCAAAAAGGTTCACATTTGCCCTCGTGGAGCTTTCAGCTAGTTGGAGAGAGAAGAGCTGGCCGGAGATGACCAAAATATAGTGTAGAAAGTGGTGAGCACCAGGAGGGTGGATGTTTTTCTTCTAACAACTGGAAATGTAACCAAGTAACCCCATCTTCAGGCCAGAATTCACTGTGGCCCAGATGGTATTGGGTCCAGATAGTATTATGGTAAAACATCCTCTTTTTCCTAGTCATGGGCTCACAACTGTATGCTTTTCAATTAACCAAAATGCACCCCGAGGGGCTCTTTGAGGGGAC... | benign | 32,979 |
Variant in gene TTC7A (tetratricopeptide repeat domain 7A), located at chromosome 2 position 46994423: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Gastrointestinal_defects_and_immunodeficiency_syndrome_1'] | GAGGGGTCTGGGGAGGCTTCATGGAGGAGGTGACATTGGAACTTGCTTTTGAAGGATGAAGTGGGGAAAGGCCACGTAAGGCAGTGGAAGAAGCCAGTGCCGAGACTTGATATAGGGGACTGCGGTCATTCAGAAAGGACTTGCTTGAGTGCTGGGGGCTGAGGTGGGAGAAAGGTGAGGGGCAGGCCCCACAGCCTCAGGAAGCTACGCTGAGGGCTTATTCTGTGAGCCCTGGGGCCACTGTAGGGCTGGACTTGAGAGGATCCAGGTGACCTTCCTGCATCCACTAGACCCCCAAGGCGCAGTGGGAGCAGTTTTTC... | GAGGGGTCTGGGGAGGCTTCATGGAGGAGGTGACATTGGAACTTGCTTTTGAAGGATGAAGTGGGGAAAGGCCACGTAAGGCAGTGGAAGAAGCCAGTGCCGAGACTTGATATAGGGGACTGCGGTCATTCAGAAAGGACTTGCTTGAGTGCTGGGGGCTGAGGTGGGAGAAAGGTGAGGGGCAGGCCCCACAGCCTCAGGAAGCTACGCTGAGGGCTTATTCTGTGAGCCCTGGGGCCACTGTAGGGCTGGACTTGAGAGGATCCAGGTGACCTTCCTGCATCCACTAGACCCCCAAGGCGCAGTGGGAGCAGTTTTTC... | pathogenic | 32,998 |
Is the genetic variant on chromosome 2, position 46994512, gene TTC7A (tetratricopeptide repeat domain 7A), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Gastrointestinal_defects_and_immunodeficiency_syndrome_1', 'TTC7A-related_disorder'] | GAAGCCAGTGCCGAGACTTGATATAGGGGACTGCGGTCATTCAGAAAGGACTTGCTTGAGTGCTGGGGGCTGAGGTGGGAGAAAGGTGAGGGGCAGGCCCCACAGCCTCAGGAAGCTACGCTGAGGGCTTATTCTGTGAGCCCTGGGGCCACTGTAGGGCTGGACTTGAGAGGATCCAGGTGACCTTCCTGCATCCACTAGACCCCCAAGGCGCAGTGGGAGCAGTTTTTCACATTGTGGGCCACAGCCTGTTAGTGGGAATGCAAGATCTATTTAGTGGGCTGCAGCCAGCATGTTACAAAATGGGGGTAGAGGTAGAA... | GAAGCCAGTGCCGAGACTTGATATAGGGGACTGCGGTCATTCAGAAAGGACTTGCTTGAGTGCTGGGGGCTGAGGTGGGAGAAAGGTGAGGGGCAGGCCCCACAGCCTCAGGAAGCTACGCTGAGGGCTTATTCTGTGAGCCCTGGGGCCACTGTAGGGCTGGACTTGAGAGGATCCAGGTGACCTTCCTGCATCCACTAGACCCCCAAGGCGCAGTGGGAGCAGTTTTTCACATTGTGGGCCACAGCCTGTTAGTGGGAATGCAAGATCTATTTAGTGGGCTGCAGCCAGCATGTTACAAAATGGGGGTAGAGGTAGAA... | pathogenic | 32,999 |
Determine whether the variant at chromosome 2, position 47006038, in gene TTC7A (tetratricopeptide repeat domain 7A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Gastrointestinal_defects_and_immunodeficiency_syndrome_1'] | TTGGTGGCTGTGTGGGTGGACTTCACTGGGAAGGAGGGGGATTTCTTGGCACCTTCTTTCTCCACTCCTCTCCTTCAACCCTTTGGAGCTCCTGAGTGGCTCCTGTTCCACAGGCTGACTCCAGAGCTCAGCCTTGCCGGGATTTCCGGGCATCCCGGCACCCTCTCCTGGGCCATCTAAGTCCATGGGGGCATGGGCAGCACTCACCAACTGTGGCAACAGGGCAGCCATCAGAACCCCTGGCCACCAGTCTCTCAGTGACTGAGCTGTCCCCCAGGGTGAGTCACTTCCTTGGGTCTTGGAGGTGTTTTGGCTTCCAG... | TTGGTGGCTGTGTGGGTGGACTTCACTGGGAAGGAGGGGGATTTCTTGGCACCTTCTTTCTCCACTCCTCTCCTTCAACCCTTTGGAGCTCCTGAGTGGCTCCTGTTCCACAGGCTGACTCCAGAGCTCAGCCTTGCCGGGATTTCCGGGCATCCCGGCACCCTCTCCTGGGCCATCTAAGTCCATGGGGGCATGGGCAGCACTCACCAACTGTGGCAACAGGGCAGCCATCAGAACCCCTGGCCACCAGTCTCTCAGTGACTGAGCTGTCCCCCAGGGTGAGTCACTTCCTTGGGTCTTGGAGGTGTTTTGGCTTCCAG... | pathogenic | 33,009 |
Is the genetic variant on chromosome 2, position 47011359, gene TTC7A (tetratricopeptide repeat domain 7A), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Gastrointestinal_defect_and_immunodeficiency_syndrome', 'Multiple_gastrointestinal_atresias'] | AGAGAGCCATGGGGGTGGTGGCCTTTTTTGTCTCTCCCACCCTTTCTGTGGGGTCCTTTGAGGAAAGAGCCATGACCTCATCCCCTTTCCTGAGTGACCGCACAACGCCTAGCCCAGTACTGGGTGAGAGCACACCCTCGGCAAAGACACCCGCAATTAACCTAATAAGTCTGAGCCAAAGCCCAGGGAAATCTATCACGTCTGGGTTGAGAAAAGCTCTTCCTTAGATGGCGGGGAAAAGGGGAGGCCAGCTGGAGGGAGGCGGGGTGTCCAGGGTGGACATAGACCATTCGGATCATAGCTGTGCACCTGCCAGTTGC... | AGAGAGCCATGGGGGTGGTGGCCTTTTTTGTCTCTCCCACCCTTTCTGTGGGGTCCTTTGAGGAAAGAGCCATGACCTCATCCCCTTTCCTGAGTGACCGCACAACGCCTAGCCCAGTACTGGGTGAGAGCACACCCTCGGCAAAGACACCCGCAATTAACCTAATAAGTCTGAGCCAAAGCCCAGGGAAATCTATCACGTCTGGGTTGAGAAAAGCTCTTCCTTAGATGGCGGGGAAAAGGGGAGGCCAGCTGGAGGGAGGCGGGGTGTCCAGGGTGGACATAGACCATTCGGATCATAGCTGTGCACCTGCCAGTTGC... | pathogenic | 33,017 |
Is the genetic mutation found on chromosome 2 at position 47024345, within the gene TTC7A (tetratricopeptide repeat domain 7A), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Gastrointestinal_defect_and_immunodeficiency_syndrome', 'Multiple_gastrointestinal_atresias'] | TCCTGTCTGTAATGCGCCATCAGCCCTCCACCTCACAATGCTTCCATTCTGGTTCTCATAGGCCTGCCTTTAACCTCAGCACTGCTATGATCTTCTGGAGCCTTTTAAATCCCCCTCAATACGTGGCATAGGGCTGGGTACGCAGCAGGTGCTTAGTAACTACTTGTGCTCGGCTAATGGATTCTGCTCCTTCCTGCCCCACACCTGGCCTTCTCTTGCCAACCCTGCCAGCTCAGCCATGTGTCTTACTCCGTCTATCAGGCAGCCACCTACTTTGATCTTGTAGCTTGAGGGATGGGGAGTGACGGGCCGCCACCCAG... | TCCTGTCTGTAATGCGCCATCAGCCCTCCACCTCACAATGCTTCCATTCTGGTTCTCATAGGCCTGCCTTTAACCTCAGCACTGCTATGATCTTCTGGAGCCTTTTAAATCCCCCTCAATACGTGGCATAGGGCTGGGTACGCAGCAGGTGCTTAGTAACTACTTGTGCTCGGCTAATGGATTCTGCTCCTTCCTGCCCCACACCTGGCCTTCTCTTGCCAACCCTGCCAGCTCAGCCATGTGTCTTACTCCGTCTATCAGGCAGCCACCTACTTTGATCTTGTAGCTTGAGGGATGGGGAGTGACGGGCCGCCACCCAG... | pathogenic | 33,032 |
Determine whether the variant at chromosome 2, position 47051784, in gene TTC7A (tetratricopeptide repeat domain 7A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Gastrointestinal_defects_and_immunodeficiency_syndrome_1', 'Severe_combined_immunodeficiency_disease'] | GGTATGCGACCCACGTTGATCCCTCCTGCCTCTCTAGTGATGTTGGTGACTTCAGCTCTGTCTTTGGGCCTGAACCCACAGCCCCAGAGCCTGCCTGGAGTGAGGCTGTCCCATTCTCCCTGCCAGTCCTTGTGATGCTGGCCCTCTACCTCACTGGGCCCTGTGATGCTAGCCCTCTACCTTACCGGACCCTGGCCCTCTTTTGCCTTCCAGAGGCCTAGAAAAGGATGGCAGCTTCGGTGAGGGCCTCACCATGAAGAAGCAGAGTGGCATGCACCTGACTTTGCCTGATGCCCATGATGCAGACTCTGGTAAGAACG... | GGTATGCGACCCACGTTGATCCCTCCTGCCTCTCTAGTGATGTTGGTGACTTCAGCTCTGTCTTTGGGCCTGAACCCACAGCCCCAGAGCCTGCCTGGAGTGAGGCTGTCCCATTCTCCCTGCCAGTCCTTGTGATGCTGGCCCTCTACCTCACTGGGCCCTGTGATGCTAGCCCTCTACCTTACCGGACCCTGGCCCTCTTTTGCCTTCCAGAGGCCTAGAAAAGGATGGCAGCTTCGGTGAGGGCCTCACCATGAAGAAGCAGAGTGGCATGCACCTGACTTTGCCTGATGCCCATGATGCAGACTCTGGTAAGAACG... | pathogenic | 33,065 |
Does the chromosome 2 mutation at position 47160810 within gene CALM2 (calmodulin 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TAATGCAAATGCCAAGGACAATGTTAAGGGCCTTACTTTCATTATTTCACTTAACTTTTAAAAAAGCCCCACTCATAATCCCAACACTTTGGGAGGATGAGGTGAGGGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAACATGAGTCCCTGTCTTTACAAAAAACAAACCTTGTTTGGATTTCCTTTCGACAAAATTTACTACATCCAATTAAGGGGAGTAGAGTGCACATCTAAAATCTTCCTATTTAACTGATTACCCGAGTATGTGATACCATTAGAACTATCAATGCCTGTAACTTCCCTTGCTCTAA... | TAATGCAAATGCCAAGGACAATGTTAAGGGCCTTACTTTCATTATTTCACTTAACTTTTAAAAAAGCCCCACTCATAATCCCAACACTTTGGGAGGATGAGGTGAGGGGATCACTTGAGCCCAGGAGTTCAAGACCAACCTGGGCAACATGAGTCCCTGTCTTTACAAAAAACAAACCTTGTTTGGATTTCCTTTCGACAAAATTTACTACATCCAATTAAGGGGAGTAGAGTGCACATCTAAAATCTTCCTATTTAACTGATTACCCGAGTATGTGATACCATTAGAACTATCAATGCCTGTAACTTCCCTTGCTCTAA... | benign | 33,077 |
Regarding the variant found on chromosome 2 at position 47161874 in gene CALM2 (calmodulin 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | AGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACCTTCACTATTTCTGCCACCCATCTCCATATGCTTCCCCACACGAGAAAAAATTATCTAGACTATACCAAGCAGAAACCAATGCCATATTTTATTTTCAAAATTATTAGACTTCAACAGTTAAATGAC... | AGGAATGTTGTGGGCACGCATGATGGTGGCCCCCAAAAGGTGACTACACTAAGCCAGCCCCCATAGATCCCCATCTTTTCGGCCTTCCTCTTCAATCTCTCCTTAGTTACACCCCTTATTTTGTTCCTCTTATTTTCTGTGCTTCTCTCCCTCTTTTCTCACTTTTCCAATCCTTTTCTCCTTCCTTTCCCACCTTCACTATTTCTGCCACCCATCTCCATATGCTTCCCCACACGAGAAAAAATTATCTAGACTATACCAAGCAGAAACCAATGCCATATTTTATTTTCAAAATTATTAGACTTCAACAGTTAAATGAC... | benign | 33,089 |
Variant in EPCAM (epithelial cell adhesion molecule), chromosome 2, position 47373967—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GCTAGCTTTTTCTTTTTTTTCCTCTTCAGTTGAACTGAGGAGATAGTTTTTGTTTTTAATGATTGTGCTCTTTTAACTAGACAAAAGGAATTAGATAGTCTTGCCTATTCGAAGTTAAATGAACTTTTGAGGTTGTTAAGGACAAAACTATTAAACTGACATCAATAATACAGAATGGGCTGCTTAGTATCACTTTCCTTATCAGGTACTAGGATTTAATTTAGTTAGGAAACTCACTTAAAGGGAGGACTATAACTGCAGTTGAAAGTGTAATTTTTCCAAGATATAAAATTGTTTAAAGATTGAATATATTCCTGTTA... | GCTAGCTTTTTCTTTTTTTTCCTCTTCAGTTGAACTGAGGAGATAGTTTTTGTTTTTAATGATTGTGCTCTTTTAACTAGACAAAAGGAATTAGATAGTCTTGCCTATTCGAAGTTAAATGAACTTTTGAGGTTGTTAAGGACAAAACTATTAAACTGACATCAATAATACAGAATGGGCTGCTTAGTATCACTTTCCTTATCAGGTACTAGGATTTAATTTAGTTAGGAAACTCACTTAAAGGGAGGACTATAACTGCAGTTGAAAGTGTAATTTTTCCAAGATATAAAATTGTTTAAAGATTGAATATATTCCTGTTA... | benign | 33,137 |
Is the variant located on chromosome 2 at position 47373996, gene EPCAM (epithelial cell adhesion molecule), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Congenital_diarrhea_5_with_tufting_enteropathy'] | TTGAACTGAGGAGATAGTTTTTGTTTTTAATGATTGTGCTCTTTTAACTAGACAAAAGGAATTAGATAGTCTTGCCTATTCGAAGTTAAATGAACTTTTGAGGTTGTTAAGGACAAAACTATTAAACTGACATCAATAATACAGAATGGGCTGCTTAGTATCACTTTCCTTATCAGGTACTAGGATTTAATTTAGTTAGGAAACTCACTTAAAGGGAGGACTATAACTGCAGTTGAAAGTGTAATTTTTCCAAGATATAAAATTGTTTAAAGATTGAATATATTCCTGTTAAGCCCCAAAGGAAACATCCCTCATTTAAG... | TTGAACTGAGGAGATAGTTTTTGTTTTTAATGATTGTGCTCTTTTAACTAGACAAAAGGAATTAGATAGTCTTGCCTATTCGAAGTTAAATGAACTTTTGAGGTTGTTAAGGACAAAACTATTAAACTGACATCAATAATACAGAATGGGCTGCTTAGTATCACTTTCCTTATCAGGTACTAGGATTTAATTTAGTTAGGAAACTCACTTAAAGGGAGGACTATAACTGCAGTTGAAAGTGTAATTTTTCCAAGATATAAAATTGTTTAAAGATTGAATATATTCCTGTTAAGCCCCAAAGGAAACATCCCTCATTTAAG... | pathogenic | 33,139 |
Gene EPCAM (epithelial cell adhesion molecule) variant at chromosome position 47377020 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Congenital_diarrhea_5_with_tufting_enteropathy', 'EPCAM-related_disorder'] | CATGACACTGCCAGCTAAACTTTGACTTAATGTGACTTTATGTATTGTGTCCAGAGAACAGAGGGTCAATATTAGAAAAGGTGTTCCCTCCTGGGTGTGTCCTTTATGAAGGATGTGTAAGGGAAGAAATTATAGGAATAGCTACTGCATAAATTTTTTTTCTCTTAGTCCTTATAATTCGAGAATTTTAGGATTAGCTTATTAGGAAAATAGTATGGAAGACTGAGTTATAGTCAACTGACATTGTCTTTTTACTTTATAGCTGGATCATCATTGAACTAAAACACAAAGCAAGAGAAAAACCTTATGATAGTAAAAGT... | CATGACACTGCCAGCTAAACTTTGACTTAATGTGACTTTATGTATTGTGTCCAGAGAACAGAGGGTCAATATTAGAAAAGGTGTTCCCTCCTGGGTGTGTCCTTTATGAAGGATGTGTAAGGGAAGAAATTATAGGAATAGCTACTGCATAAATTTTTTTTCTCTTAGTCCTTATAATTCGAGAATTTTAGGATTAGCTTATTAGGAAAATAGTATGGAAGACTGAGTTATAGTCAACTGACATTGTCTTTTTACTTTATAGCTGGATCATCATTGAACTAAAACACAAAGCAAGAGAAAAACCTTATGATAGTAAAAGT... | pathogenic | 33,149 |
Clinical classification of chromosome 2, position 47403112, gene MSH2 (mutS homolog 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Lynch_syndrome'] | AAAAACAAACAAAGGTTCCAAGGCTCTACTCCAGAAATTAAGACCCATTATGTGTGGGCTGGGCACAGGAATATGTTTAAATCCCCCCCCACCTCCCCAGGGTGATTCTGCTGCTGAATTAGGTTTTGGAACCACTTCCATGGGGAAAGGGTAAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG... | AAAAACAAACAAAGGTTCCAAGGCTCTACTCCAGAAATTAAGACCCATTATGTGTGGGCTGGGCACAGGAATATGTTTAAATCCCCCCCCACCTCCCCAGGGTGATTCTGCTGCTGAATTAGGTTTTGGAACCACTTCCATGGGGAAAGGGTAAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG... | pathogenic | 33,179 |
Is the variant located on chromosome 2 at position 47403196, gene MSH2 (mutS homolog 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | CCCCCCACCTCCCCAGGGTGATTCTGCTGCTGAATTAGGTTTTGGAACCACTTCCATGGGGAAAGGGTAAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGT... | CCCCCCACCTCCCCAGGGTGATTCTGCTGCTGAATTAGGTTTTGGAACCACTTCCATGGGGAAAGGGTAAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGT... | pathogenic | 33,183 |
Chromosome 2, position 47403201, gene MSH2 (mutS homolog 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | CACCTCCCCAGGGTGATTCTGCTGCTGAATTAGGTTTTGGAACCACTTCCATGGGGAAAGGGTAAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGA... | CACCTCCCCAGGGTGATTCTGCTGCTGAATTAGGTTTTGGAACCACTTCCATGGGGAAAGGGTAAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGA... | pathogenic | 33,188 |
Evaluate if the mutation on chromosome 2 at position 47403202 in MSH2 (mutS homolog 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | ACCTCCCCAGGGTGATTCTGCTGCTGAATTAGGTTTTGGAACCACTTCCATGGGGAAAGGGTAAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAA... | ACCTCCCCAGGGTGATTCTGCTGCTGAATTAGGTTTTGGAACCACTTCCATGGGGAAAGGGTAAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAA... | pathogenic | 33,189 |
Variant on chromosome 2, at position 47403210, affecting MSH2 (mutS homolog 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | AGGGTGATTCTGCTGCTGAATTAGGTTTTGGAACCACTTCCATGGGGAAAGGGTAAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGAC... | AGGGTGATTCTGCTGCTGAATTAGGTTTTGGAACCACTTCCATGGGGAAAGGGTAAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGAC... | pathogenic | 33,193 |
Mutation at chromosome 2, position 47403211, within MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Lynch_syndrome'] | GGGTGATTCTGCTGCTGAATTAGGTTTTGGAACCACTTCCATGGGGAAAGGGTAAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACC... | GGGTGATTCTGCTGCTGAATTAGGTTTTGGAACCACTTCCATGGGGAAAGGGTAAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACC... | pathogenic | 33,194 |
A genetic variant at chromosome 2, position 47403219, affecting gene MSH2 (mutS homolog 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Lynch_syndrome'] | CTGCTGCTGAATTAGGTTTTGGAACCACTTCCATGGGGAAAGGGTAAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGA... | CTGCTGCTGAATTAGGTTTTGGAACCACTTCCATGGGGAAAGGGTAAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGA... | pathogenic | 33,200 |
Is the genetic change at chromosome 2, position 47403223, within gene MSH2 (mutS homolog 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | TGCTGAATTAGGTTTTGGAACCACTTCCATGGGGAAAGGGTAAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTG... | TGCTGAATTAGGTTTTGGAACCACTTCCATGGGGAAAGGGTAAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTG... | pathogenic | 33,205 |
A mutation at chromosome position 47403257 on chromosome 2 in gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | AAAGGGTAAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG... | AAAGGGTAAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG... | pathogenic | 33,219 |
Gene MSH2 (mutS homolog 2) variant at chromosome position 47403261 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Lynch_syndrome'] | GGTAAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT... | GGTAAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT... | pathogenic | 33,220 |
Regarding the variant found on chromosome 2 at position 47403262 in gene MSH2 (mutS homolog 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | GTAAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG... | GTAAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG... | pathogenic | 33,221 |
The chromosome 2, position 47403264 genetic variant in gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Lynch_syndrome'] | AAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG... | AAACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG... | pathogenic | 33,222 |
Determine if the mutation at chromosome 2, position 47403265 in gene MSH2 (mutS homolog 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome', 'Lynch_syndrome_1'] | AACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC... | AACTAAACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC... | pathogenic | 33,223 |
Gene MSH2 (mutS homolog 2) variant at chromosome 2, position 47403271—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Lynch_syndrome'] | ACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC... | ACTGGAGAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC... | pathogenic | 33,224 |
Clinical classification of chromosome 2, position 47403277, gene MSH2 (mutS homolog 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | GAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG... | GAATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG... | pathogenic | 33,229 |
Is the genetic change at chromosome 2, position 47403278, within gene MSH2 (mutS homolog 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | AATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC... | AATGCAAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC... | pathogenic | 33,230 |
Evaluate the clinical significance of the mutation at chromosome 2, position 47403283 in gene MSH2 (mutS homolog 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Lynch_syndrome'] | AAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCA... | AAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCA... | pathogenic | 33,232 |
Is the variant located on chromosome 2 at position 47403288, gene MSH2 (mutS homolog 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAAC... | CCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAAC... | pathogenic | 33,236 |
Mutation at chromosome 2, position 47403292, within MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | TTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTT... | TTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTT... | pathogenic | 33,239 |
Does the chromosome 2 mutation at position 47403297 within gene MSH2 (mutS homolog 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | TTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAA... | TTTTTTTTTTTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAA... | pathogenic | 33,240 |
Regarding the variant at chromosome 2 and position 47403306, affecting gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | TTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATT... | TTTTTTTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATT... | pathogenic | 33,245 |
Variant in gene MSH2 (mutS homolog 2), located at chromosome 2 position 47403311: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | TTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCA... | TTTGAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCA... | pathogenic | 33,247 |
The mutation impacting MSH2 (mutS homolog 2) on chromosome 2 at position 47403314: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | GAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGA... | GAGACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGA... | pathogenic | 33,248 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 47403316, gene MSH2 (mutS homolog 2): what disease(s) if pathogenic? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | GACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATG... | GACAGAGTCTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATG... | pathogenic | 33,250 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 47403324, gene MSH2 (mutS homolog 2): what disease(s) if pathogenic? | pathogenic; ['Carcinoma_of_colon', 'Lynch_syndrome', 'Lynch_syndrome_1', 'Mismatch_repair_cancer_syndrome_2', 'Muir-Torré_syndrome'] | CTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGA... | CTCACCCTGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGA... | pathogenic | 33,257 |
Is chromosome 2, position 47403331, gene MSH2 (mutS homolog 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | TGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTT... | TGTTGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTT... | pathogenic | 33,263 |
Does the variant on chromosome 2 at location 47403334 affecting gene MSH2 (mutS homolog 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Lynch_syndrome'] | TGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAG... | TGCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAG... | pathogenic | 33,266 |
The mutation impacting MSH2 (mutS homolog 2) on chromosome 2 at position 47403335: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Lynch_syndrome'] | GCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGG... | GCCCAGGCTGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGG... | pathogenic | 33,267 |
Assess the variant on chromosome 2, position 47403343, impacting MSH2 (mutS homolog 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | TGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGAT... | TGGAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGAT... | pathogenic | 33,271 |
Benign or pathogenic: chromosome 2, position 47403345, gene MSH2 (mutS homolog 2) variant? Disease(s) if pathogenic? | pathogenic; ['Lynch_syndrome'] | GAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAA... | GAGTGCAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAA... | pathogenic | 33,274 |
Is the chromosome 2, position 47403350 variant in MSH2 (mutS homolog 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | CAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTT... | CAATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTT... | pathogenic | 33,280 |
Chromosome 2, position 47403351, gene MSH2 (mutS homolog 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | AATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTT... | AATGGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTT... | pathogenic | 33,281 |
Evaluate the clinical significance of the mutation at chromosome 2, position 47403354 in gene MSH2 (mutS homolog 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Lynch_syndrome', 'Lynch_syndrome_1'] | GGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATT... | GGCGCGACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATT... | pathogenic | 33,284 |
Chromosome 2, position 47403359, gene MSH2 (mutS homolog 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTT... | GACCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTT... | pathogenic | 33,289 |
Evaluate this variant at chromosome 2, position 47403364, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | CGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGA... | CGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGA... | pathogenic | 33,292 |
Considering the variant on chromosome 2, location 47403372, involving gene MSH2 (mutS homolog 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | TGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGAGACAGAGT... | TGCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGAGACAGAGT... | pathogenic | 33,297 |
Is the genetic mutation found on chromosome 2 at position 47403373, within the gene MSH2 (mutS homolog 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | GCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGAGACAGAGTC... | GCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGAGACAGAGTC... | pathogenic | 33,298 |
Gene MSH2 (mutS homolog 2) variant at chromosome position 47403373 on chromosome 2: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Inherited_MMR_deficiency_(Lynch_syndrome)', 'Lynch_syndrome', 'Lynch_syndrome_1'] | GCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGAGACAGAGTC... | GCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGAGACAGAGTC... | pathogenic | 33,299 |
Regarding the variant found on chromosome 2 at position 47403373 in gene MSH2 (mutS homolog 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1', 'Mismatch_repair_cancer_syndrome_2', 'Muir-Torré_syndrome'] | GCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGAGACAGAGTC... | GCAACCTCCACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGAGACAGAGTC... | pathogenic | 33,300 |
Assess the variant on chromosome 2, position 47403382, impacting MSH2 (mutS homolog 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | ACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGAGACAGAGTCTCGCTCTGT... | ACCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGAGACAGAGTCTCGCTCTGT... | pathogenic | 33,305 |
Regarding the variant found on chromosome 2 at position 47403391 in gene MSH2 (mutS homolog 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | GTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGAGACAGAGTCTCGCTCTGTCACCGAGGC... | GTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGAGACAGAGTCTCGCTCTGTCACCGAGGC... | pathogenic | 33,310 |
Mutation at chromosome 2, position 47403391, within MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | GTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGAGACAGAGTCTCGCTCTGTCACCGAGGC... | GTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGAGACAGAGTCTCGCTCTGTCACCGAGGC... | pathogenic | 33,311 |
Chromosome 2, position 47403391, gene MSH2 (mutS homolog 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | GTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGAGACAGAGTCTCGCTCTGTCACCGAGGC... | GTTCAAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGAGACAGAGTCTCGCTCTGTCACCGAGGC... | pathogenic | 33,312 |
Regarding the variant at chromosome 2 and position 47403395, affecting gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | AAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGAGACAGAGTCTCGCTCTGTCACCGAGGCTGGA... | AAGGGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGAGACAGAGTCTCGCTCTGTCACCGAGGCTGGA... | pathogenic | 33,314 |
The mutation in gene MSH2 (mutS homolog 2) at chromosome 2, position 47403415—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGAGACAGAGTCTCGCTCTGTCACCGAGGCTGGAGTGTAGTGGCGCGATCTTCG... | CCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACTACACCCGGCTAATTTTGTGTGTGTTTTTAGTAGAGACGGAGGTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCAAAAACCTTTTCTAAGAGTTAATTTTGCAGGATGGATCCTGAGCTCCTTCAGGTGTTTGATAACATTTTATTTATTTTTTGAGACAGAGTCTCGCTCTGTCACCGAGGCTGGAGTGTAGTGGCGCGATCTTCG... | benign | 33,327 |
Variant in gene MSH2 (mutS homolog 2), located at chromosome 2 position 47408384: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TTGACCTCGTGATCTTCCCGCCTCCGCCTTCCAAAGAGCTGGGATTACCTACCCAGCTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCA... | TTGACCTCGTGATCTTCCCGCCTCCGCCTTCCAAAGAGCTGGGATTACCTACCCAGCTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCA... | benign | 33,333 |
The mutation in gene MSH2 (mutS homolog 2) at chromosome 2, position 47408384—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TTGACCTCGTGATCTTCCCGCCTCCGCCTTCCAAAGAGCTGGGATTACCTACCCAGCTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCA... | TTGACCTCGTGATCTTCCCGCCTCCGCCTTCCAAAGAGCTGGGATTACCTACCCAGCTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCA... | benign | 33,334 |
Assess the variant on chromosome 2, position 47408384, impacting MSH2 (mutS homolog 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TTGACCTCGTGATCTTCCCGCCTCCGCCTTCCAAAGAGCTGGGATTACCTACCCAGCTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCA... | TTGACCTCGTGATCTTCCCGCCTCCGCCTTCCAAAGAGCTGGGATTACCTACCCAGCTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCA... | benign | 33,335 |
Determine whether the variant at chromosome 2, position 47408384, in gene MSH2 (mutS homolog 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | TTGACCTCGTGATCTTCCCGCCTCCGCCTTCCAAAGAGCTGGGATTACCTACCCAGCTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCA... | TTGACCTCGTGATCTTCCCGCCTCCGCCTTCCAAAGAGCTGGGATTACCTACCCAGCTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCA... | benign | 33,336 |
Is the genetic change at chromosome 2, position 47408402, within gene MSH2 (mutS homolog 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer'] | CGCCTCCGCCTTCCAAAGAGCTGGGATTACCTACCCAGCTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTT... | CGCCTCCGCCTTCCAAAGAGCTGGGATTACCTACCCAGCTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTT... | pathogenic | 33,343 |
Clinical classification of chromosome 2, position 47408410, gene MSH2 (mutS homolog 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome'] | CCTTCCAAAGAGCTGGGATTACCTACCCAGCTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAA... | CCTTCCAAAGAGCTGGGATTACCTACCCAGCTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAA... | pathogenic | 33,346 |
Is the genetic mutation found on chromosome 2 at position 47408415, within the gene MSH2 (mutS homolog 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast_carcinoma', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colon_cancer', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | CAAAGAGCTGGGATTACCTACCCAGCTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGA... | CAAAGAGCTGGGATTACCTACCCAGCTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGA... | pathogenic | 33,349 |
Chromosome 2, position 47408426, gene MSH2 (mutS homolog 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | GATTACCTACCCAGCTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGAC... | GATTACCTACCCAGCTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGAC... | pathogenic | 33,353 |
Assess the variant on chromosome 2, position 47408438, impacting MSH2 (mutS homolog 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | AGCTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTT... | AGCTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTT... | pathogenic | 33,355 |
Determine if the mutation at chromosome 2, position 47408440 in gene MSH2 (mutS homolog 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Lynch_syndrome', 'Lynch_syndrome_1'] | CTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTT... | CTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTT... | pathogenic | 33,356 |
Variant at chromosome 2, position 47408440, gene MSH2 (mutS homolog 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTT... | CTGGGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTT... | pathogenic | 33,357 |
Is the variant located on chromosome 2 at position 47408443, gene MSH2 (mutS homolog 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Lynch_syndrome'] | GGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGT... | GGTATGTCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGT... | pathogenic | 33,358 |
Located at chromosome 2 position 47408449, the variant affecting gene MSH2 (mutS homolog 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1', 'likely other unspecified diseases'] | TCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAG... | TCTTTATTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAG... | pathogenic | 33,360 |
Variant in gene MSH2 (mutS homolog 2), located at chromosome 2 position 47408455: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | TTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGT... | TTAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGT... | pathogenic | 33,364 |
Mutation at chromosome 2, position 47408456, within MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Muir-Torré_syndrome'] | TAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTG... | TAGCAGCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTG... | pathogenic | 33,365 |
Classify the chromosome 2 variant at position 47408461 affecting gene MSH2 (mutS homolog 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | GCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATT... | GCGTGAAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATT... | benign | 33,368 |
A genetic variant at chromosome 2, position 47408466, affecting gene MSH2 (mutS homolog 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Lynch_syndrome'] | AAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCC... | AAAACAGACTAAAACAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCC... | pathogenic | 33,371 |
Mutation at chromosome 2, position 47408480, within MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | CAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATT... | CAGTAAACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATT... | pathogenic | 33,379 |
Does the genetic variant at chromosome 2, position 47408485, impacting gene MSH2 (mutS homolog 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | AACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGG... | AACTGATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGG... | pathogenic | 33,383 |
Regarding the variant at chromosome 2 and position 47408489, affecting gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | GATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCT... | GATACCAATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCT... | pathogenic | 33,385 |
Variant in MSH2 (mutS homolog 2), chromosome 2, position 47408496—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | ATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACT... | ATAGAGTGGGATGCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACT... | pathogenic | 33,389 |
Is the genetic variant on chromosome 2, position 47408508, gene MSH2 (mutS homolog 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms'] | GCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACTTGAGAGAAATGA... | GCAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACTTGAGAGAAATGA... | pathogenic | 33,396 |
Benign or pathogenic: chromosome 2, position 47408509, gene MSH2 (mutS homolog 2) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | CAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACTTGAGAGAAATGAT... | CAGCTGAAAAGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACTTGAGAGAAATGAT... | pathogenic | 33,397 |
Clinical significance of chromosome 2, position 47408518, gene MSH2 (mutS homolog 2): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | AGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACTTGAGAGAAATGATTTTGGGTAT... | AGATACCCGAAAATATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACTTGAGAGAAATGATTTTGGGTAT... | pathogenic | 33,399 |
Variant at chromosome position 47408531, chromosome 2, gene MSH2 (mutS homolog 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Lynch_syndrome'] | TATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACTTGAGAGAAATGATTTTGGGTATCTGGTGGGAGAAA... | TATGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACTTGAGAGAAATGATTTTGGGTATCTGGTGGGAGAAA... | pathogenic | 33,405 |
Clinical classification of chromosome 2, position 47408533, gene MSH2 (mutS homolog 2): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome', 'Lynch_syndrome_1'] | TGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACTTGAGAGAAATGATTTTGGGTATCTGGTGGGAGAAATT... | TGGAAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACTTGAGAGAAATGATTTTGGGTATCTGGTGGGAGAAATT... | pathogenic | 33,406 |
Considering the genetic mutation at chromosome 2, position 47408536, impacting MSH2 (mutS homolog 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | AAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACTTGAGAGAAATGATTTTGGGTATCTGGTGGGAGAAATTTCT... | AAGCAACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACTTGAGAGAAATGATTTTGGGTATCTGGTGGGAGAAATTTCT... | pathogenic | 33,408 |
Located at chromosome 2 position 47408540, the variant affecting gene MSH2 (mutS homolog 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome'] | AACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACTTGAGAGAAATGATTTTGGGTATCTGGTGGGAGAAATTTCTAAGC... | AACTTTGGAGCTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACTTGAGAGAAATGATTTTGGGTATCTGGTGGGAGAAATTTCTAAGC... | pathogenic | 33,412 |
Assess the variant on chromosome 2, position 47408550, impacting MSH2 (mutS homolog 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1', 'MSH2-related_disorder'] | CTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACTTGAGAGAAATGATTTTGGGTATCTGGTGGGAGAAATTTCTAAGCAGCAAAGCAT... | CTGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACTTGAGAGAAATGATTTTGGGTATCTGGTGGGAGAAATTTCTAAGCAGCAAAGCAT... | pathogenic | 33,417 |
Is chromosome 2, position 47408551, gene MSH2 (mutS homolog 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | TGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACTTGAGAGAAATGATTTTGGGTATCTGGTGGGAGAAATTTCTAAGCAGCAAAGCATT... | TGGGTAACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACTTGAGAGAAATGATTTTGGGTATCTGGTGGGAGAAATTTCTAAGCAGCAAAGCATT... | pathogenic | 33,418 |
Is the variant located on chromosome 2 at position 47408556, gene MSH2 (mutS homolog 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | AACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACTTGAGAGAAATGATTTTGGGTATCTGGTGGGAGAAATTTCTAAGCAGCAAAGCATTCAAGA... | AACAGGCAGAGGTCAGAGCAGTTTAGAGGGCTCAGAAGAAGACCAGAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTCAATGGCTTTGACCAAAATCCTGATAATGATATGGACAATGAAATCCAGGCTCATGTGGTCTCAGATGGAGATGAGGAACTTGTTGGGAACTGGAGCAAAGGTGACACTTGTTATGTTTTAGTAAAGAGACTGGTGGCATTTTGCCCTGCCCTAGAGATTTGTGGAGCTTTGAACTTGAGAGAAATGATTTTGGGTATCTGGTGGGAGAAATTTCTAAGCAGCAAAGCATTCAAGA... | benign | 33,422 |
Classify the chromosome 2 variant at position 47410073 affecting gene MSH2 (mutS homolog 2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CCCACCTAAATCCCATCTTGAATTCCCATGTATTGTGGGAGGGACCTGGTGGGAGATAGTTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAAT... | CCCACCTAAATCCCATCTTGAATTCCCATGTATTGTGGGAGGGACCTGGTGGGAGATAGTTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAAT... | benign | 33,434 |
Gene mutation in MSH2 (mutS homolog 2) at chromosome 2, position 47410094—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Lynch_syndrome'] | ATTCCCATGTATTGTGGGAGGGACCTGGTGGGAGATAGTTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATA... | ATTCCCATGTATTGTGGGAGGGACCTGGTGGGAGATAGTTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATA... | pathogenic | 33,442 |
Considering the genetic mutation at chromosome 2, position 47410102, impacting MSH2 (mutS homolog 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Hereditary_nonpolyposis_colorectal_neoplasms', 'Lynch_syndrome_1'] | GTATTGTGGGAGGGACCTGGTGGGAGATAGTTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAAT... | GTATTGTGGGAGGGACCTGGTGGGAGATAGTTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAAT... | pathogenic | 33,445 |
Variant at chromosome 2, position 47410105, gene MSH2 (mutS homolog 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TTGTGGGAGGGACCTGGTGGGAGATAGTTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTG... | TTGTGGGAGGGACCTGGTGGGAGATAGTTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTG... | pathogenic | 33,446 |
The mutation impacting MSH2 (mutS homolog 2) on chromosome 2 at position 47410105: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Lynch_syndrome_1'] | TTGTGGGAGGGACCTGGTGGGAGATAGTTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTG... | TTGTGGGAGGGACCTGGTGGGAGATAGTTGAATCATGGGGATGGATCTTTCCCATGCTGTTGTGATAGTGAATAAGCCTCATGAGATCTGATGGTTTTAAAAACGGAAGTCTACCTGCACAAGCTCTTTCTTTGCCTGCTGCCATCCATGTAAGACATGACTTGTTCCTCCTTGCCTTCTGCCATGATTGTGAGACCTCCCCAGCCATGTGGAACTATAAGTCCAGTAAGCCTCTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCATGAAGTCCAGCTAATACAGTGCTTGAACATGTAATATCTCAAATCTG... | pathogenic | 33,447 |
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