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リンチ症候群
腫瘍性疾患
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| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| single nucleotide variant | NM_000249.4(MLH1):c.113A>G (p.Asn38Ser) | MLH1 | Pathogenic | 3 | 37035151 | 37035151 | A | G | reviewed by expert panel | ClinGen:CA004445 |
| Duplication | NM_000249.4(MLH1):c.1145dup (p.Met383fs) | MLH1 | Pathogenic | 3 | 37067233 | 37067234 | C | CA | reviewed by expert panel | ClinGen:CA330668 |
| single nucleotide variant | NM_000249.4(MLH1):c.114C>G (p.Asn38Lys) | MLH1 | Pathogenic | 3 | 37035152 | 37035152 | C | G | reviewed by expert panel | UniProtKB:P40692#VAR_076340,ClinGen:CA004476 |
| Deletion | NM_000249.4(MLH1):c.1150del (p.Val384fs) | MLH1 | Pathogenic | 3 | 37067238 | 37067238 | TG | T | reviewed by expert panel | ClinGen:CA004484 |
| single nucleotide variant | NM_000249.4(MLH1):c.116+1G>A | MLH1 | Likely pathogenic | 3 | 37035155 | 37035155 | G | A | reviewed by expert panel | ClinGen:CA004527 |
| single nucleotide variant | NM_000249.4(MLH1):c.116+5G>C | MLH1 | Pathogenic | 3 | 37035159 | 37035159 | G | C | reviewed by expert panel | ClinGen:CA004556 |
| Insertion | NM_000249.3(MLH1):c.1163_1164ins4 | MLH1 | Pathogenic | 3 | 37067252 | 37067253 | na | na | reviewed by expert panel | - |
| single nucleotide variant | NM_000249.4(MLH1):c.117-11T>A | MLH1 | Likely pathogenic | 3 | 37038099 | 37038099 | T | A | criteria provided, single submitter | - |
| Deletion | NM_000249.4(MLH1):c.117-691_306+1011del | MLH1 | Pathogenic | 3 | 37037419 | 37043555 | GATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGTCACCATGCCTGGCTAATTTTGTATTTTTAGTACAAATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGTGTGAGCCATTGCGCCTGGCCAGAAAATTCATTGACTTCCTAAAGATTTATTAACTTTCTGCATTACTTTTTTTTTTCCCCTCCATCGTAAATATAAAAGGGAATAGTAGAGAAAATCATTCAGAATTTTATTTTTTAGTGACATTATTTAGTGACATTTTATTAGAGTCACTTAGGAACCTGAGGCTGAATAAAGTTCAGGTAAAAGTAAAATTAGTTGAGAAGAGACATCTGCCAAAAGAAATCTATTTTTAACTTCACTTGCTGTCTTTCCTAGAGGAACAGAAATAGTGCTGAATGTCCTATTAGAAATGATGGTTGCTCTGCCCGTCTCTTCCCTCTCTCTCACACAATATGTAAACTCATACAGTGTATGAGCCTGTAAGACAAAGGAAAAACACGTTAATGAGGCACTATTGTTTGTATTTGGAGTTTGTTATCATTGCTTGGCTCATATTAAAATATGTACATTAGAGTAGTTGCAGACTGATAAATTATTTTCTGTTTGATTTGCCAGTTTAGATGCAAAATCCACAAGTATTCAAGTGATTGTTAAAGAGGGAGGCCTGAAGTTGATTCAGATCCAAGACAATGGCACCGGGATCAGGGTAAGTAAAACCTCAAAGTAGCAGGATGTTTGTGCGCTTCATGGAAGAGTCAGGACCTTTCTCTGTTCTGGAAACTAGGCTTTTGCAGATGGGATTTTTTCACTGAAAAATTCAACACCAACAATAAATATTTATTGAGTACCTATTATTTGCTGGGCACTGTTCAGGGGATGTGTCAGTGAATAAAATAGATTAAAATCTATTCTCTTCTGATGCTTACATTATAGTGGTGGGAGACAAAATGGGTATAATAAATATTATATTAGATAGCATTAAGTGCTGTGGAGAAAACTAAAGCAGGGAGGAAGATAGGAGTGTGCAAGCCAGAAAGGTTGCAATTAAATTGAGTAGTTCAGGAAGGCTTCAATATGGATGTGATATTTGAGAGACCGGTGGAAGTCAAGGAGCAAGTTGTGAGGCTATTTAAAGGTATTCTTGGCTTACAGAACAATATACGCAAAGACTATTAAATGGAAGCATACCTGACATGTTAAAGGACTATCAAGGAGGCCAGTTTGTCTAGAGGCTGAAAAGGAAAGAGTAATAGGAGATGAGGTCTGAGTGAAAACACGTAAATCCTTGTGGGCCAAGGTAAAATCTTTAGCTTTTTTTCTGAATATGGTGGGATACTGTTAGAGGGTTTTAAGCAGAGGTTACGTGGTGTGGTGAGTTTTTTTTTTTTAATCCTTTGTCTTTCTGTGTGGAAAATAGCAGGACAGGGCAGAAGCAGTCTGTCCTGCAGACTGCTTGGTCGCAGTAGAGATGTAAGAAGCAGTGAGATTCTGGGTTAATTATGGAGGCAAAGTTCTCAGAATTTGCTGATATAGGGTATGAGAGAAAGAGGAATCAGGAATGATTTCAAGGTTTTGGTCTGCTAAATGGAAGGAGTTGCCATTTACTAAGATGGGAAAGACTATGAAAGAAGCAGATTTTCAGAGAGATCAGAAGTTCATTTTGGGGCATGTTCAATTTAAGATGCCTGTTAGTTGGATGTTTATGTGAGTTTGGAATGCAGGGTAGAGATTTAGGGATGAATATTTGGTAGTTGTCTGCATTTTAATGGTATTAAAAGCCACGAGAAGGATGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATATATAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCGATGAGCCGAGATCGCACCGTTGCACTCCAGCTTGGGCAACAAGAGCAAAACTCCATCAAAAAAAAAAAAAAAAAAAAAAAAAAGCCTTGAGACTCACCTGAAAAGATGCTCAACATTATTGGTCATTAGGAAAATGAATGAAAACCACAATGAGATACCACTTCACACCTATTAGGATGGCTATTATCAAAAACAAAAACAAGTGTTTGCAAGGATGTAGAGATTGGAATTCTTGTGTATTGCTAGAGGGAATGTAAAATAGTGCAGGGTGCTGTGGAAAATGCTGTGGTGATTCCTCAAAAAATTAAACATAATTATATAATCCAGTAATTCCACTTCTGAGTTATTCCCAAAAGAAGGGATGCAAGCAGATATTTGTACACTCATATTCATGGCAGCATTATTTACAGTAGCCAAAAGGTGAAAGCAACCTAAGTGTCCGTCAGTGGATGAATGGATAAACAAAATGGAATAATTTCAGCCTTAAATAGAAATAAAATGTTGACACATGTTGCAACATATACGAACCTTGAAGACATCATGTTAAGTTAAATAAGTTGGTCACTAAAGGACAAATATTGTATGATTCCCCTTATGAGGTTCCTAGAGTAGTCACATTCATAGAGACAGTAGAGTGGTGGTTGCCCAGGGCCGGGGGGAGCGAGGAGAATGGAAATTATTGTTTATTGGGTACAGAGTTTCTGTTTGGGGAAGATGAAAAAATTCTGGAGATGGATCATGATGATAGTTAACACAGCAGTGTGAATATAGTTAATGGCACAGAACTGTACATTTAAAAATGGTTAAGATGGAAAATTTTCTGTTACATATATTTTACTGCAATTTTTTTAAATTTTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACATGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTGCGAATAGTGCTGCAGTAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATTGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAAGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTCGAGAAGTGTCTGTTCATATCCTTCACTCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGAGTTCATTGAAAAATTAGAATTTTTTTTTTTTTCCCTTTTTTAGAGGCAAGGTCTCACTCTGTCGCCCACACTGGAGTGCAGTAGTGTAAGCATAGCTCACTGTAACCTTGAACTCCTGGGCTCAAGCAATTCTGTCATCTCAGCCAGCTGAAGTAGTAACTGTAGGTTCACACCACCATGCCTATTTTTGTTTTTGTAGAAATAGGGCCTTGCTTTGTTGCCAAGGCTGGTCTTGAACTCCTGACCTCAAGCAGTCCTCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGCACCCAGCCTTGGAGATTTTTAATAAAGAAGCTTGTCAATTAAACAAACAACAAAAAGCCCTGAGACTGAATGAGATAATCAAGAGAGTATGTGTAGATAGAGAAGAGGTCCAAGGAAGGAGTCTTGGGTGACTCTGATGTCAAGTGAGGACATGAGGCAGAAACAGCAGTGACTGAGAAGGAGCCACCTAGTAAGAAAGGAGGAACACCAGGACAGTGTGGTATTCTGGATTCCAAACAAGGAAGTTACTGCTAATTTTAAAGCTCTTCTCAGGCTGGGCATGGTGGCTCACACCTGTAGTCCCAGCACTTCGGGAGGCTGAGGTAGGTAAATCACTTGAGCTCATGTGTTTGAGACCAGCTTGGGCAACATGGTGAAACCTCATCTCTACTAAAAATATAAGAAATTAAGGCCAGGTGTGGTAGTTCATGCCTGTAATCCCAGTGCTTTGGGAGGTCAAGGCAGCCAGATCATTTGAGATCAGGAGTTCGAGACCAGCATGGCCAGCATAGTGAAGCCCCATCTCTACTAAAAATACAAGAAAAAATTAACCAAGCATGGTGGCGCATACCTGTAATCCCAGCCACTCTGGAGGCTGAGACATGAAAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTTCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAGGAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTTCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAACAAAAACCAAGAAAAGAAAAAAAAACTCTTCTAAGAGGATTTTTTTTTCCTGGATTAAATCAAGAAAATGGGAATTCAAAGAGATTTGGAAAAATGAGTAACATGATTATTTACTCATCTTTTTGGTATCTAACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTCCTTTGAGGATTTAGCCAGTATTTCTACCTATGGCTTTCGAGGTGAGGTAAGCTAAAGATTCAAGAAATGTGTAAAATATCCTCCTGTGATGACATTGTCTGTCATTTGTTAGTATGTATTTCTCAACATAGATAAATAAGGTTTGGTACCTTTTACTTGTTAAATGTATGCAAATCTGAGCAAACTTAATGAACTTTAACTTTCAAAGACTGAGAATTGTTCATAAATAAACTATTTTACCTGCAGAGACCTCTGATATATGTTTCTTGATGGAAGTACCCAGTACCACCTATGAAGTTTTCTTGTCAAAAAATCAAATGTGAATCTGATCATTACTTAGATCTAAGTACCAATATATGAAAAATATAGGAGACAAGGAAGCATGGTAAATGATACTGAGATTGGGAGACTACATGGAAAAAGACTTGTTCCCTTCAACAGATAGACAGCAGGGAAAAAAGAATAGAGAAAGGAGTAAAGAACCTGTAGATTAAAAGACATTTAAGGGACATATGAACCAGGTCCAGTGTATAGATCTTACCTAAATCCTGATGGAGCAAACTATAAAAAAATTTTTTTGAGACAAATGTTTGAATACAGGTTGACTATTTGATGGCATTAAGGAGAAATTATGAATTATCTTGGTATAAGAATATTGTCATGGGTTTTTTTTTTTGAGTCCTTACCTGTTAAGATACATACTAAAATATTTGTGGGTAAAATTATATGACGTATAGGAGTATATGATTTAGAAAACGGATTAAAATATAAAAGGATAAAATAGGATCTTATATTTTGTGACTCACTTCCTGTTGGATATCTTTCTACCCAGTAAATATAGTCCTATCTAGGTTTTAATGGCTACATGTATGTACTGTAGTTTGTTTAAATGGTTTCCTATTGAACATTTATGCTCTTTGCCATTTTTTCCTGTTTAACGTTCTGTTTTTTTTTTTGTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTTATCCAGACTGGAGTGCAGTGACATGATCTCAGCTCACTGCAACCTCTGCCTTCTGGGTTCAAGCTA | G | reviewed by expert panel | ClinGen:CA330677 |
| Indel | NM_000249.3(MLH1):c.117-707_545+1338delinsTCCCGGGTTCAAGCGATTCT | MLH1 | Pathogenic | 3 | 37037403 | 37051734 | na | na | reviewed by expert panel | - |
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