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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.143A>C (p.Gln48Pro) | MLH1 | Likely pathogenic | 3 | 37038136 | 37038136 | A | C | reviewed by expert panel | ClinGen:CA005432 |
| Deletion | NM_000249.4(MLH1):c.1449del (p.Asp484fs) | MLH1 | Pathogenic | 3 | 37070313 | 37070313 | GA | G | reviewed by expert panel | ClinGen:CA005441 |
| single nucleotide variant | NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter) | MLH1 | Pathogenic | 3 | 37070324 | 37070324 | C | T | reviewed by expert panel | ClinGen:CA005475 |
| single nucleotide variant | NM_000249.4(MLH1):c.1462A>T (p.Lys488Ter) | MLH1 | Pathogenic | 3 | 37070327 | 37070327 | A | T | reviewed by expert panel | ClinGen:CA005491 |
| Deletion | NM_000249.4(MLH1):c.1463del (p.Lys488fs) | MLH1 | Pathogenic | 3 | 37070326 | 37070326 | GA | G | reviewed by expert panel | ClinGen:CA005501 |
| Deletion | NM_000249.4(MLH1):c.1464_1468del (p.Lys488fs) | MLH1 | Pathogenic | 3 | 37070325 | 37070329 | CGAAAG | C | reviewed by expert panel | ClinGen:CA005508 |
| single nucleotide variant | NM_000249.4(MLH1):c.146T>A (p.Val49Glu) | MLH1 | Pathogenic | 3 | 37038139 | 37038139 | T | A | reviewed by expert panel | ClinGen:CA005522 |
| Deletion | NM_000249.4(MLH1):c.1489del (p.Arg497fs) | MLH1 | Pathogenic | 3 | 37070349 | 37070349 | AC | A | reviewed by expert panel | ClinGen:CA005570 |
| Duplication | NM_000249.4(MLH1):c.1489dup (p.Arg497fs) | MLH1 | Pathogenic | 3 | 37070348 | 37070349 | A | AC | reviewed by expert panel | ClinGen:CA005550 |
| Deletion | NM_000249.4(MLH1):c.1491del (p.Arg498fs) | MLH1 | Pathogenic | 3 | 37070355 | 37070355 | CG | C | reviewed by expert panel | ClinGen:CA005582 |
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