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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.545+1G>A | MLH1 | Likely pathogenic | 3 | 37050397 | 37050397 | G | A | reviewed by expert panel | ClinGen:CA010895 |
| single nucleotide variant | NM_000249.4(MLH1):c.545+3A>G | MLH1 | Pathogenic | 3 | 37050399 | 37050399 | A | G | reviewed by expert panel | ClinGen:CA010914 |
| single nucleotide variant | NM_000249.4(MLH1):c.545G>A (p.Arg182Lys) | MLH1 | Pathogenic | 3 | 37050396 | 37050396 | G | A | reviewed by expert panel | ClinGen:CA010950,UniProtKB:P40692#VAR_022666 |
| single nucleotide variant | NM_000249.4(MLH1):c.546-1G>A | MLH1 | Likely pathogenic | 3 | 37053310 | 37053310 | G | A | reviewed by expert panel | ClinGen:CA010963 |
| single nucleotide variant | NM_000249.4(MLH1):c.546-2A>C | MLH1 | Pathogenic | 3 | 37053309 | 37053309 | A | C | reviewed by expert panel | ClinGen:CA010971 |
| single nucleotide variant | NM_000249.4(MLH1):c.546-2A>G | MLH1 | Pathogenic | 3 | 37053309 | 37053309 | A | G | reviewed by expert panel | ClinGen:CA010978 |
| Deletion | NM_000249.4(MLH1):c.546-361_885-811del | MLH1 | Pathogenic | 3 | 37052950 | 37060990 | TGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAATAAATAAAAATAAATAAAAAAGAGATAGTGGCGTGATATCCTTGATTCTATCAGCAACCTATAAAAGTAGAGAGGAGTCTGTGTTTTGATTCAGTCACCTTTAGCATTTTTATTTCCATGAAGTTTCTGCTGGTTTATTTTTCTGTGGGTAAAATATTAATAGGCTGTATGGAGATATTTTTCTTTATATGTACCTTTGTTTAGATTACTCAACTCCACTAATTTATTTAACTAAAAGGGGGCTCTGACATCTAGTGTGTGTTTTTGGCAACTCTTTTCTTACTCTTTTGTTTTTCTTTTCCAGGTATTCAGTACACAATGCAGGCATTAGTTTCTCAGTTAAAAAAGTAAGTTCTTGGTTTATGGGGGATGGTTTTGTTTTATGAAAAGAAAAAAGGGGATTTTTAATAGTTTGCTGGTGGAGATAAGGTTATGATGTTTCAGTCTCAGCCATGAGACAATAAATCCTTGTGTCTTCTGCTGTTTGTTTATCAGCAAGGAGAGACAGTAGCTGATGTTAGGACACTACCCAATGCCTCAACCGTGGACAATATTCGCTCCATCTTTGGAAATGCTGTTAGTCGGTATGTCGATAACCTATATAAAAAAATCTTTTACATTTATTATCTTGGTTTATCATTCCATCACATTATTTTGGAACCTTTCAAGATATTATGTGTGTTAAGAGTTTGCTTTAGTCAAATACACAGGCTTGTTTTATGCTTCAGATTTGTTAATGGAGTTCTTATTTCACGTAATCAACACTTTCTAGGTGTATGTAATCTCCTAGATTCTGTGGCGTGAATCATGTGTTCTTTCAAGGTCTTAGTCTTGAAAATATTTATAGTGTAGTAGAACTATTTTATCCTCCAATGCTCCTTCTTTTCCTTGTATTTCCATTATCATCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGCAGTCATTCCAGAGCCCAGTTTCTACTTTGAAGGGCAGATTATTTATTCTTTGAGCTAACCTGACTGAGGAACAATTAGTTTGCTTTTAATTTACTATTTTCTTTTTCTTTTCTTTTCTTTTTTGAGACAGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCTCAAACTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGATCTCGATCTCCAGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCACTATTTTCTTTCTAATTGTTAATGAATTAATTTTTTAAAACTGTGCTCCTAGAGCGAAGGGAGAGCTCTGTTTACAGTGTAACTTTTCAGAGCTTCTTTAACTAGATTTTAAGATCAGAATTAGTTGTTGTGAAATCTTAGGGACTGTACAAGATTAGAAATCCTCTATAGCAGCATTTCCCAAAGCAGGCTTCCAGAACACTAGCCTCATGAGGCATTTTGGGAAAAAAGAGTTTGCTGGTTCAGTGTGTATGGGCAGTGCCACAAGCCGTACCCTCCGTTGAAGACACTCATTCCACACATTACTGCATAAAAAGCTTCCACCAGCCATTCGGCAAACTTATTGAGTGTCTGCTATTTCCTGGGTATTGTGCTATATGGTAGGGTTATAGTAGTGAACAAAGAAGAAATGATGCCTGCTCTCAGCTGACTTTGCAGTTGGAAAGACACATGAAATAATTACGCCATTCATTAGCAGATTGTGCTAGATGCCTCACTGGAAAAATAAAGGACATGATGGAAAACTCTGTAGGGTCAGAGAAAGGGATCATTAGAGAAGGTTCTTTGAAGAAATATTTTTTGAAATATGAAGGATAAATAGGAATTAACTAGGTACCAATAGGTTAGGAGTAGAGCTTTCCAGACAGAGGGACTAGTTCTTGGGAAGGTCTCCAGACAGAAATAAGTGTGGCTTGTCTGAGGACCTCTTATTCGCCTATTAACCTTCCCTCCCCAGTAAACACTCCTGGGAACAACACACATTGTAGAACCACGTTGTGGTGCTGTTCAGTATAGCAAGTAATTCAGCAGAGATAAGTTCTTGGAATCTCATCTTTGGGATTTAGTTACTAAGATACATTCAAGTTTGAGCAAAATAAGGTCTCAGAGCTTGGATTCATTGTTCTGTTCCAGCAATTAGAGCAGTACCTGGCACATAGCACAAGTGCTTGAAAACACTGACTGAGTAGGGTAGGTGGGTGAGTGGGTGGGTGGGTGGGTGGGTGGATGGATGGATGGGAGGATGGGTGGGTGAATGGGTGAACAGACAAATGGATGGATGAATGGACAGGCACAGGAGGACCTCAAATGGACCAAGTCTTCGGGGCCCTCATTTCACAAAGTTAGTTTATGGGAAGGAACCTTGTGTTTTTAAATTCTGATTCTTTTGTAATGTTTGAGTTTTGAGTATTTTCAAAAGCTTCAGAATCTCTTTTCTAATAGAGAACTGATAGAAATTGGATGTGAGGATAAAACCCTAGCCTTCAAAATGAATGGTTACATATCCAATGCAAACTACTCAGTGAAGAAGTGCATCTTCTTACTCTTCATCAACCGTAAGTTAAAAAGAACCACATGGGAAATCCACTCACAGGAAACACCCACAGGGAATTTTATGGGACCATGGAAAAATTTCTGATCCATAGGTTTGATTAAACATGGAGAAACCTCATGGCAAAGTTTGGTTTTATTGGGAAGCATGTATAATTTTTGTCCTAAGTCTGTGCTCAGCCCTCCCACATGTGCTCATTGCTGGTTGACTGTTGGAGTCTGGTTCTTACCTCTAAGAGGAAGCCCAGGAGAGGGCATAAAGCCAGCACACTGTCCTCACCTGATGGTGTCAGAGTCCTTACGAGTAAGCCCTAGCCAGAACATTGCTGGAAGAGATCAAGGGCCACTGTTTGAAATTGCACAGCAGGATACGGAAAAGGGGTACCTTAGGTATAGGCATTGTCATTAAAGAAATTGCTAAGATACTTGAGATTTTCCTGTTTAAGGAATGAGCTTTATGATACAAAGAGCAGTTCTAAAAATTAGGGAGGGAATTAACTAAATTAATTAGGATATTTCTCAAATTCCTTTACAGTTTTTGTCTCTCTGCTGATATAGTGTTTACATGATTGTTATTTACTAAACAAATGCTATTTTGTATTGTGCTCCTTATAACTTAATTGTTTATTACAAGGTTTTGATGGTGACCTACCAACAACAAGTAATCCCAAACACAGTCTGAATTTTTTGTTTTCCATCCAGAAATAAGATGAATCTTTCCATTTCCGTGTTTTCAGTTTTCATCATTTTTATCCTATAGGTTACTTATCTTTATTTTAAAGCATTTCATAATAATTTTATAGTTTTTGTTTTGTTTGCTTGTTTGCTGTTGGAAATGGAATATTCCCTCCTTCCATTTAGACTGCTAACCAGCTGTAAATGTTTCAAAATATGCATGTTTTACAGCAGTTGTTCAAAGCAATACAGGAACAGTAAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACTGTGCAGGCGCACTCAGGTGGCAGGGACAAAGACCACTCCTTTGGCGCATCTCAAGTTCAGAATTCTCAGTAGAGGGGCTCCAGCTGTCCTTTTGTCAGGTGCCCATGCCTGCTCCAGGCCTGTGTGGTCAGGACACGTGTTACAGAGTACAGTGACATTAATGATGGGGCCATGGATATGGTCAGCACTCAGAGGATGTTAGTCTCTTCATTGATAAAGTCACAACCACTTTTCCTGTTGGAAATAAAAAGATTTGACGTATCCTTGTCTACAGCAACACAGGACAACAGATAATCAGCAGGTCATCTAAATCTGTTCAGAGAGAAAGGAGAGCTGTTTCCTGAAAATACATCTTCCCCTGATTTTAGTCTTATTTTTTTCTGCCTTTATTGCTTTCTACCCTCTTCAAACCAGCCTCATTTCCTAAATTACCTTGAATATGCATTGACACTTGTACTGCCTGAAATTCTGGAAAACTCAGTATGGCTACTCCACCGTCAGAACTTCCTGAGCAAAGTTAGTTGCTCTCTCGGCTCACTGTTTTGTTTTGTTTTGTTTTCCTGCCTCAGGTTTATTTGTACAAATAGCACAGGAGGACCAGCCCCATGCAGATGGTAGCCCAGGGGCGGGGGTAGGGGGTCACACCAGTCCTTCTGTCCTCATGTTGGCAGAGATATCTACTCTGAAGCCTTTGTAGGGGCCTGGGCACCTTTGGGAGCCTGAGCTGGAACTGAAGGTGGAGCTGCAGCCTGGGCCTTGGTTTGATCCTTGGCCTTGGCCTTTGGCCGGCACAGCCTGAGCCCCTTGGCAATACGGGCACGAGCACGCTTCCCAAGCTTGGGATGGGCAATGTAGGCAAGTCGATCGAGCTTGCGGCTGACACCCTTTGGGATCTTGGGCTTAACCTCCTTGGGCTTTACGAGGGCCTTGATAGCCTCGGCACGTGCACTCATGGCCTTGGCATTGTTGGCCTGCATCTTCTTTAGGCCCTTCTTGTTGTGCTTCTTGGCAAAGTGCATGTTCCTCAGGAACTTGGGGTCCACCCCCTTAAGAGATTCGTATCTTTGTGATCGGGGTTTCTTGATACCATTTCTGTGCCATTTTCGGGACTGGTTGTGTGTGGTGTGGTTCTTGGACTTCGCCATGTCTACACCTTAAGCCGCGGCTCCCGAAGCACCTAGAACCGGAAGAGTTGGCTCACTATTTAGCACACACACACGTCTATAATAGTGCTGGCCACTTGGGGTTGGAATTAGTTTATTTATCAGCATGTTGTCTCCCAGCACTTGGTGTGTGTGATATGCAGTATGTATTTGCAGAATGAAAAGTCTGAGGGCTGACATCATATTTCCCACTGTGCCCAGAAAGAGCACAGTTAGTCCACATGAGCTAATGGGGGCAAAGGGAAGTGAGGAGGGAGAATGTACTGCCTTATCATGTTTTCTATTACTTGGCTGAAGTAAAACAGTCCCAAGCCGATAGTAAGATAGTGGGCTGGAAAGTGGCGACAGGTAAAGGTGCACCTTTCTTCCTGGGGATGTGATGTGCATATCACTACAGAAATGTCTTTCCTGAGGTGATTTCATGACTTTGTGTGAATGTACACCTGTGACCTCACCCCTCAGGACAGTTTTGAACTGGTTGCTTTCTTTTTATTGTTTAGATCGTCTGGTAGAATCAACTTCCTTGAGAAAAGCCATAGAAACAGTGTATGCAGCCTATTTGCCCAAAAACACACACCCATTCCTGTACCTCAGGTAATGTAGCACCAAACTCCTCAACCAAGACTCACAAGGAACAGATGTTCTATCAGGCTCTCCTCTTTGAAAGAGATGAGCATGCTAATAGTACAATCAGAGTGAATCCCATACACCACTGGCAAAAGGATGTTCTGTCCCTTCTTACAGGTACAAGGCACAGTTTTCCTTCATTTATTCACTAATTTAGCAGAACCTCACTAAGAGCCTCCTATATGCCAGGCTCTGCGTTAGCAATAAAAGGAATGCCATGCCTCACCCCATCAGGAGGTGCTGATAGCTTGTAGGCGGAGTGGAAACAGATGTGCTCTAGAGGCTCTAAATATTACTTCTGCTGGGGTCAGTTGGGAAGCCACAACAGCTACTGTTCATCTTCCATAAAAGACAATCAGCCGGGCACAGTGGCTCACACCTGTAAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACAAGGTCAGGTGTTTGAGACCAGCCTGGCCAACGTGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGTGGAGGTTGCAGTGAGCTGAGACTGTACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGACTGGGTTCTGTTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGATTTTACCATGTTGGCCAGTCTGGTCTTGAACTCCCGACCTCAGGTGATCCTCTCACTTTGGCCTCCCAAAGTGTTAGGATTACAGGCCTCAGCCACTGCACCCAGCCTAAAGTTAGTTTTAGATTAAGTGTTTTCATGTTTTCCCTTGCAAAGTAATAAACTGGTCAAGTTATCACCTTGTTCCATCTCCATATTAATCAGGGTCCAAACAGGAGATAGAAACCATGCAACAATTTGAGTAGTTGAATAAAGAATTATAAACAGGAGATTAGAGTAATAGGGGATTAGATAGTAAGAGGTGAAGAGATAGGAACAGCAGATATAAAGAACAACCATTTCCTCCTATGGCTGAGATACCATCCCCTCACCACACTCCCCCACCTACTCACTGAGATGCAGACCTTATTGAAGAGAATGTAACTGGCTTGCTGCGAGGTAAAGTCAATGAGGCGCTCCCCAGTACCACTCTGAGGGGATGCTGGGGAAAACTGCCCATGAGAAGAGGGCACATGCTGCTGGCCACTTGTGCTAAAGAACTTGAAGTCTGATAGGAGTGCACCCTAACCTGGCATAGAAACCCTTTCTTCCTGCTGAGTCCCTCTAGCACCTTATACTGGCAAAGCTTTACATTGCAAACCTCCATTATCACAGAGCAAGCAATGAAAGATGGACTCAGAGCTGAGGCGATAAATTGATAGCTAGCA | T | reviewed by expert panel | ClinGen:CA331071 |
| single nucleotide variant | NM_000249.4(MLH1):c.554T>G (p.Val185Gly) | MLH1 | Pathogenic | 3 | 37053319 | 37053319 | T | G | reviewed by expert panel | ClinGen:CA011003,UniProtKB:P40692#VAR_004447 |
| single nucleotide variant | NM_000249.4(MLH1):c.55A>T (p.Ile19Phe) | MLH1 | Pathogenic | 3 | 37035093 | 37035093 | A | T | reviewed by expert panel | ClinGen:CA011026,UniProtKB:P40692#VAR_043383 |
| Deletion | NM_000249.4(MLH1):c.574_588+2del | MLH1 | Likely pathogenic | 3 | 37053336 | 37053352 | TAGTTTCTCAGTTAAAAA | T | reviewed by expert panel | ClinGen:CA331077 |
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