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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.454-2A>G | MLH1 | Likely pathogenic | 3 | 37050303 | 37050303 | A | G | reviewed by expert panel | ClinGen:CA010586 |
| Deletion | NM_000249.4(MLH1):c.454-432_546-1030del | MLH1 | Pathogenic | 3 | 37049840 | 37052248 | GCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTACAGACGTGAGCCACTGCACCCAGCCTGAAAAATATCTTTGAATGCCATGTGATACTATACTTGTCAGTTTACATGTGTGTCCCACTAAATCATGTACTCTCCTGAGCAGGATCATGCTTTGTCTTCATATTTTCTGTACAAAGCAAAGACTCTGACACAAAGCTAGCCCCCAGTGCATAGTTGAGAAATCAGTGAATGAATGTGGGAGGCAGGAAAAATGTCCTTTAATTCTTCTGTTAATGCTGTCTTATCCCTGGCCCCAGTCAGTGCTTAGAACTGTGCTGTTGGTAAATATAATTGGATTCACTATCTTAAGACCTCGCTTTTGCCAGGACATCTTGGGTTTTATTTTCAAGTACTTCTATGAATTTACAAGAAAAATCAATCTTCTGTTCAGGTGGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAGGTACAGTCCAAAATCTGGGAGTGGGTCTCTGAGATTTGTCATCAAAGTAATGTGTTCTAGTGCTCATACATTGAACAGTTGCTGAGCTAGATGGTGAAAAGTAAAACTAGCTTACAGATAGTTTCTGGTCAAGGTTTAGCCACCAATTTTGCAGTTTCTCTCATCTCCCCAGGAAAGAGCAGTTGGTCTTTAGATCAATGAGAGCTCTTTTATGGCAGACAAAACAAAGTGACTCTAGCCAACTTGAGCTAAAAAGAAATTTAGTGGAAGGCTAGGAGTTACCACATGAAGTGTGTGCAGCTGCCCCTTGGAGAGAATAAGAACCAGGGTGCCTCTGGGACTTAACATCATTACTGTACTCCAGTTGTTTTCATTCTTTTCCTGACTTTGCTCTAGAGTCAGTTTCCTAACAGAGTACATTCGATGATCATGTGCCCATATCTGTGGGGAGAAGATTTCTTGATTGGCAGTCTTACTAAGGGTGCATATCAAGTAGAATGGAATAGAGGTAGTTTCCTAAAGGAAGATGAGAGGCTGTTACCAGGAGGAGGAGAAGGGATTCAGGACAGATGAAAACAACGTTATATCCATGATAGACTTACGCTGCTGGTACAGATGGTACAGGTGGCTTCAGTATAGGCTCTCCGAACCCACATATCATTGATTATGATAGGGATATGTTAACTATTTTTCAGTGTATATATGTATATGTGTGTGTGTATATATATGTATATGTATATATATATGTATGTGTATATATGTATATGTATATATTTATATATGTATATGTATATATTTATATATGTATATGTATATATTTATATATGTATATGTATATATATTTATATATGTATATGTGTGTATATATATATTTATATATATGTATATGTGTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCAGATGATCCTCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACTGGCATGAGCCAGCGCTCCTGGCCCATTTTTCAGTATTTCTAAAAAAAATCTAAAGTGGGTCAAACATTTCACCTTAATAGAATGACAGGTTTGTACATCAAGTTTCTTTGCTTTTTCTTGGAATTTTATACTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCACAACCTCCACCTCCAGGTTGAAGCAATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACCACACCCGGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGT | G | reviewed by expert panel | ClinGen:CA331055 |
| Deletion | NM_000249.4(MLH1):c.454-466_546-1062del | MLH1 | Pathogenic | 3 | 37049839 | 37052249 | GGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTACAGACGTGAGCCACTGCACCCAGCCTGAAAAATATCTTTGAATGCCATGTGATACTATACTTGTCAGTTTACATGTGTGTCCCACTAAATCATGTACTCTCCTGAGCAGGATCATGCTTTGTCTTCATATTTTCTGTACAAAGCAAAGACTCTGACACAAAGCTAGCCCCCAGTGCATAGTTGAGAAATCAGTGAATGAATGTGGGAGGCAGGAAAAATGTCCTTTAATTCTTCTGTTAATGCTGTCTTATCCCTGGCCCCAGTCAGTGCTTAGAACTGTGCTGTTGGTAAATATAATTGGATTCACTATCTTAAGACCTCGCTTTTGCCAGGACATCTTGGGTTTTATTTTCAAGTACTTCTATGAATTTACAAGAAAAATCAATCTTCTGTTCAGGTGGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAGGTACAGTCCAAAATCTGGGAGTGGGTCTCTGAGATTTGTCATCAAAGTAATGTGTTCTAGTGCTCATACATTGAACAGTTGCTGAGCTAGATGGTGAAAAGTAAAACTAGCTTACAGATAGTTTCTGGTCAAGGTTTAGCCACCAATTTTGCAGTTTCTCTCATCTCCCCAGGAAAGAGCAGTTGGTCTTTAGATCAATGAGAGCTCTTTTATGGCAGACAAAACAAAGTGACTCTAGCCAACTTGAGCTAAAAAGAAATTTAGTGGAAGGCTAGGAGTTACCACATGAAGTGTGTGCAGCTGCCCCTTGGAGAGAATAAGAACCAGGGTGCCTCTGGGACTTAACATCATTACTGTACTCCAGTTGTTTTCATTCTTTTCCTGACTTTGCTCTAGAGTCAGTTTCCTAACAGAGTACATTCGATGATCATGTGCCCATATCTGTGGGGAGAAGATTTCTTGATTGGCAGTCTTACTAAGGGTGCATATCAAGTAGAATGGAATAGAGGTAGTTTCCTAAAGGAAGATGAGAGGCTGTTACCAGGAGGAGGAGAAGGGATTCAGGACAGATGAAAACAACGTTATATCCATGATAGACTTACGCTGCTGGTACAGATGGTACAGGTGGCTTCAGTATAGGCTCTCCGAACCCACATATCATTGATTATGATAGGGATATGTTAACTATTTTTCAGTGTATATATGTATATGTGTGTGTGTATATATATGTATATGTATATATATATGTATGTGTATATATGTATATGTATATATTTATATATGTATATGTATATATTTATATATGTATATGTATATATTTATATATGTATATGTATATATATTTATATATGTATATGTGTGTATATATATATTTATATATATGTATATGTGTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCAGATGATCCTCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACTGGCATGAGCCAGCGCTCCTGGCCCATTTTTCAGTATTTCTAAAAAAAATCTAAAGTGGGTCAAACATTTCACCTTAATAGAATGACAGGTTTGTACATCAAGTTTCTTTGCTTTTTCTTGGAATTTTATACTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCACAACCTCCACCTCCAGGTTGAAGCAATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACCACACCCGGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGTC | G | reviewed by expert panel | ClinGen:CA331056 |
| Deletion | NM_000249.4(MLH1):c.454-501_546-1098del | MLH1 | Pathogenic | 3 | 37049800 | 37052209 | ATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTACAGACGTGAGCCACTGCACCCAGCCTGAAAAATATCTTTGAATGCCATGTGATACTATACTTGTCAGTTTACATGTGTGTCCCACTAAATCATGTACTCTCCTGAGCAGGATCATGCTTTGTCTTCATATTTTCTGTACAAAGCAAAGACTCTGACACAAAGCTAGCCCCCAGTGCATAGTTGAGAAATCAGTGAATGAATGTGGGAGGCAGGAAAAATGTCCTTTAATTCTTCTGTTAATGCTGTCTTATCCCTGGCCCCAGTCAGTGCTTAGAACTGTGCTGTTGGTAAATATAATTGGATTCACTATCTTAAGACCTCGCTTTTGCCAGGACATCTTGGGTTTTATTTTCAAGTACTTCTATGAATTTACAAGAAAAATCAATCTTCTGTTCAGGTGGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAGGTACAGTCCAAAATCTGGGAGTGGGTCTCTGAGATTTGTCATCAAAGTAATGTGTTCTAGTGCTCATACATTGAACAGTTGCTGAGCTAGATGGTGAAAAGTAAAACTAGCTTACAGATAGTTTCTGGTCAAGGTTTAGCCACCAATTTTGCAGTTTCTCTCATCTCCCCAGGAAAGAGCAGTTGGTCTTTAGATCAATGAGAGCTCTTTTATGGCAGACAAAACAAAGTGACTCTAGCCAACTTGAGCTAAAAAGAAATTTAGTGGAAGGCTAGGAGTTACCACATGAAGTGTGTGCAGCTGCCCCTTGGAGAGAATAAGAACCAGGGTGCCTCTGGGACTTAACATCATTACTGTACTCCAGTTGTTTTCATTCTTTTCCTGACTTTGCTCTAGAGTCAGTTTCCTAACAGAGTACATTCGATGATCATGTGCCCATATCTGTGGGGAGAAGATTTCTTGATTGGCAGTCTTACTAAGGGTGCATATCAAGTAGAATGGAATAGAGGTAGTTTCCTAAAGGAAGATGAGAGGCTGTTACCAGGAGGAGGAGAAGGGATTCAGGACAGATGAAAACAACGTTATATCCATGATAGACTTACGCTGCTGGTACAGATGGTACAGGTGGCTTCAGTATAGGCTCTCCGAACCCACATATCATTGATTATGATAGGGATATGTTAACTATTTTTCAGTGTATATATGTATATGTGTGTGTGTATATATATGTATATGTATATATATATGTATGTGTATATATGTATATGTATATATTTATATATGTATATGTATATATTTATATATGTATATGTATATATTTATATATGTATATGTATATATATTTATATATGTATATGTGTGTATATATATATTTATATATATGTATATGTGTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCAGATGATCCTCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACTGGCATGAGCCAGCGCTCCTGGCCCATTTTTCAGTATTTCTAAAAAAAATCTAAAGTGGGTCAAACATTTCACCTTAATAGAATGACAGGTTTGTACATCAAGTTTCTTTGCTTTTTCTTGGAATTTTATACTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCACAACCTCCACCTCCAGGTTGAAGCAATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACCACACCCGGCTAATTTTTTTTTTTT | A | reviewed by expert panel | ClinGen:CA331057 |
| Deletion | NM_000249.4(MLH1):c.454-665_545+49del | MLH1 | Pathogenic | 3 | 37049640 | 37050445 | TTTTTTTTTTTTGAGACAAAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGTGTGATCTCAGCTCACTGCAATCACTACCTCTTGAGTTCAAGCAGTTGTCCTGCCTCAGCCTCTTGAGTACCTGGGATTACAGGCATGCGTCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTACAGACGTGAGCCACTGCACCCAGCCTGAAAAATATCTTTGAATGCCATGTGATACTATACTTGTCAGTTTACATGTGTGTCCCACTAAATCATGTACTCTCCTGAGCAGGATCATGCTTTGTCTTCATATTTTCTGTACAAAGCAAAGACTCTGACACAAAGCTAGCCCCCAGTGCATAGTTGAGAAATCAGTGAATGAATGTGGGAGGCAGGAAAAATGTCCTTTAATTCTTCTGTTAATGCTGTCTTATCCCTGGCCCCAGTCAGTGCTTAGAACTGTGCTGTTGGTAAATATAATTGGATTCACTATCTTAAGACCTCGCTTTTGCCAGGACATCTTGGGTTTTATTTTCAAGTACTTCTATGAATTTACAAGAAAAATCAATCTTCTGTTCAGGTGGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAGGTACAGTCCAAAATCTGGGAGTGGGTCTCTGAGATTTGTCATCAAAGTA | T | reviewed by expert panel | ClinGen:CA331058 |
| Duplication | NM_000249.3(MLH1):c.454-?_1409+?dup | MLH1 | Pathogenic | 3 | 37050305 | 37067498 | na | na | criteria provided, single submitter | - |
| Deletion | NM_000249.3(MLH1):c.454-?_545+?del | MLH1 | Pathogenic | 3 | 37048555 | 37053310 | na | na | reviewed by expert panel | LOVD 3:MLH1_001742 |
| single nucleotide variant | NM_000249.4(MLH1):c.464T>G (p.Leu155Arg) | MLH1 | Pathogenic | 3 | 37050315 | 37050315 | T | G | reviewed by expert panel | ClinGen:CA010624,UniProtKB:P40692#VAR_043397 |
| Deletion | NM_000249.4(MLH1):c.468_469del (p.Phe156fs) | MLH1 | Pathogenic | 3 | 37050315 | 37050316 | CTT | C | reviewed by expert panel | ClinGen:CA010631 |
| Deletion | NM_000249.4(MLH1):c.488del (p.Arg163fs) | MLH1 | Pathogenic | 3 | 37050339 | 37050339 | AG | A | reviewed by expert panel | ClinGen:CA010679 |
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