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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) | ||||||||||
| Deletion | NM_000249.4(MLH1):c.1764del (p.Ala589fs) | MLH1 | Pathogenic | 3 | 37089041 | 37089041 | CT | C | reviewed by expert panel | ClinGen:CA006827,OMIM:120436.0009 |
| single nucleotide variant | NM_000249.4(MLH1):c.1766C>A (p.Ala589Asp) | MLH1 | Likely pathogenic | 3 | 37089044 | 37089044 | C | A | reviewed by expert panel | ClinGen:CA006836,UniProtKB:P40692#VAR_043419 |
| Deletion | NM_000249.4(MLH1):c.1769del (p.Ala589_Leu590insTer) | MLH1 | Pathogenic | 3 | 37089046 | 37089046 | CT | C | reviewed by expert panel | ClinGen:CA006844 |
| Deletion | NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs) | MLH1 | Pathogenic | 3 | 37089047 | 37089050 | TTAGA | T | reviewed by expert panel | ClinGen:CA006862 |
| Deletion | NM_000249.4(MLH1):c.1778_1779del (p.Pro593fs) | MLH1 | Pathogenic | 3 | 37089056 | 37089057 | CCA | C | reviewed by expert panel | ClinGen:CA006885 |
| single nucleotide variant | NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter) | MLH1 | Pathogenic | 3 | 37089068 | 37089068 | G | A | reviewed by expert panel | ClinGen:CA006929 |
| Deletion | NM_000249.4(MLH1):c.1800_1818del (p.Glu600fs) | MLH1 | Pathogenic | 3 | 37089074 | 37089092 | GAGGAAGATGGTCCCAAAGA | G | reviewed by expert panel | ClinGen:CA006947 |
| single nucleotide variant | NM_000249.4(MLH1):c.1810A>T (p.Lys604Ter) | MLH1 | Pathogenic | 3 | 37089088 | 37089088 | A | T | reviewed by expert panel | ClinGen:CA006984 |
| Duplication | NM_000249.4(MLH1):c.1812dup (p.Glu605fs) | MLH1 | Pathogenic | 3 | 37089087 | 37089088 | C | CA | reviewed by expert panel | ClinGen:CA006993 |
| Duplication | NM_000249.4(MLH1):c.1821dup (p.Ala608fs) | MLH1 | Pathogenic | 3 | 37089097 | 37089098 | C | CT | reviewed by expert panel | ClinGen:CA330817 |
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