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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.1409+1G>C | MLH1 | Pathogenic | 3 | 37067499 | 37067499 | G | C | reviewed by expert panel | ClinGen:CA005254 |
| single nucleotide variant | NM_000249.4(MLH1):c.1409+2T>G | MLH1 | Likely pathogenic | 3 | 37067500 | 37067500 | T | G | reviewed by expert panel | ClinGen:CA005261 |
| Deletion | NM_000249.3(MLH1):c.1410-?_(*193_?)del | MLH1 | Pathogenic | 3 | 37070275 | 37092337 | na | na | reviewed by expert panel | - |
| Deletion | NM_000249.4(MLH1):c.1411_1414del (p.Lys471Aspfs) | MLH1 | Pathogenic | 3 | 37070273 | 37070276 | CAGAA | C | reviewed by expert panel | ClinGen:CA005298 |
| Duplication | NM_000249.4(MLH1):c.1412dup (p.Arg472fs) | MLH1 | Pathogenic | 3 | 37070274 | 37070275 | G | GA | reviewed by expert panel | ClinGen:CA005314 |
| Deletion | NM_000249.4(MLH1):c.1413_1416del (p.Lys471fs) | MLH1 | Pathogenic | 3 | 37070277 | 37070280 | AAGAG | A | reviewed by expert panel | ClinGen:CA005323 |
| Duplication | NM_000249.4(MLH1):c.1414dup (p.Arg472fs) | MLH1 | Pathogenic | 3 | 37070278 | 37070279 | G | GA | reviewed by expert panel | ClinGen:CA005346 |
| Deletion | NM_000249.4(MLH1):c.1415_1427del (p.Arg472fs) | MLH1 | Pathogenic | 3 | 37070276 | 37070288 | AAAGAGACATCGGG | A | reviewed by expert panel | ClinGen:CA005365 |
| Deletion | NM_000249.4(MLH1):c.1420del (p.Arg474fs) | MLH1 | Pathogenic | 3 | 37070285 | 37070285 | TC | T | reviewed by expert panel | ClinGen:CA005405 |
| single nucleotide variant | NM_000249.4(MLH1):c.142C>T (p.Gln48Ter) | MLH1 | Pathogenic | 3 | 37038135 | 37038135 | C | T | reviewed by expert panel | ClinGen:CA005419 |
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