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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.73A>T (p.Ile25Phe) | MLH1 | Likely pathogenic | 3 | 37035111 | 37035111 | A | T | reviewed by expert panel | ClinGen:CA011880,UniProtKB:P40692#VAR_043385 |
| Deletion | NM_000249.4(MLH1):c.73del (p.Ile25fs) | MLH1 | Pathogenic | 3 | 37035111 | 37035111 | TA | T | reviewed by expert panel | ClinGen:CA011892 |
| Duplication | NM_000249.4(MLH1):c.745dup (p.Ala249fs) | MLH1 | Pathogenic | 3 | 37055989 | 37055990 | T | TG | reviewed by expert panel | ClinGen:CA011919 |
| single nucleotide variant | NM_000249.4(MLH1):c.76C>T (p.Gln26Ter) | MLH1 | Pathogenic | 3 | 37035114 | 37035114 | C | T | reviewed by expert panel | ClinGen:CA011979 |
| Deletion | NM_000249.4(MLH1):c.76del (p.Gln26fs) | MLH1 | Pathogenic | 3 | 37035113 | 37035113 | TC | T | reviewed by expert panel | ClinGen:CA011993 |
| single nucleotide variant | NM_000249.4(MLH1):c.779T>G (p.Leu260Arg) | MLH1 | Pathogenic | 3 | 37056024 | 37056024 | T | G | reviewed by expert panel | ClinGen:CA012020,UniProtKB:P40692#VAR_043401 |
| Deletion | NM_000249.4(MLH1):c.78del (p.Gln26fs) | MLH1 | Pathogenic | 3 | 37035116 | 37035116 | AG | A | reviewed by expert panel | ClinGen:CA012079 |
| single nucleotide variant | NM_000249.4(MLH1):c.790+1G>A | MLH1 | Pathogenic | 3 | 37056036 | 37056036 | G | A | reviewed by expert panel | ClinGen:CA012109 |
| single nucleotide variant | NM_000249.4(MLH1):c.790+1G>C | MLH1 | Likely pathogenic | 3 | 37056036 | 37056036 | G | C | reviewed by expert panel | ClinGen:CA012117 |
| Deletion | NM_000249.4(MLH1):c.790+1del | MLH1 | Pathogenic | 3 | 37056036 | 37056036 | CG | C | reviewed by expert panel | ClinGen:CA012098 |
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