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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.2103+1G>C | MLH1 | Likely pathogenic | 3 | 37090509 | 37090509 | G | C | reviewed by expert panel | ClinGen:CA008633 |
| single nucleotide variant | NM_000249.4(MLH1):c.2103+1G>T | MLH1 | Likely pathogenic | 3 | 37090509 | 37090509 | G | T | reviewed by expert panel | ClinGen:CA008639 |
| single nucleotide variant | NM_000249.4(MLH1):c.2103G>C (p.Gln701His) | MLH1 | Pathogenic | 3 | 37090508 | 37090508 | G | C | reviewed by expert panel | ClinGen:CA008661 |
| single nucleotide variant | NM_000249.4(MLH1):c.2104-1G>T | MLH1 | Likely pathogenic | 3 | 37091976 | 37091976 | G | T | reviewed by expert panel | ClinGen:CA008680 |
| single nucleotide variant | NM_000249.4(MLH1):c.2104-2A>G | MLH1 | Likely pathogenic | 3 | 37091975 | 37091975 | A | G | reviewed by expert panel | ClinGen:CA008707 |
| single nucleotide variant | NM_000249.4(MLH1):c.2104-2A>T | MLH1 | Pathogenic | 3 | 37091975 | 37091975 | A | T | reviewed by expert panel | ClinGen:CA008714 |
| Deletion | NM_000249.3(MLH1):c.2104-?_*(193_?)del | MLH1 | Pathogenic | 3 | 37091977 | 37092337 | na | na | reviewed by expert panel | - |
| Deletion | NM_000249.4(MLH1):c.2105_2114del (p.Ser702fs) | MLH1 | Pathogenic | 3 | 37091978 | 37091987 | AGTGAAGTGCC | A | reviewed by expert panel | ClinGen:CA008729 |
| Deletion | NM_000249.4(MLH1):c.2111_2117del (p.Val704fs) | MLH1 | Pathogenic | 3 | 37091983 | 37091989 | AGTGCCTG | A | reviewed by expert panel | ClinGen:CA008757 |
| single nucleotide variant | NM_000249.4(MLH1):c.211G>T (p.Glu71Ter) | MLH1 | Pathogenic | 3 | 37042449 | 37042449 | G | T | reviewed by expert panel | ClinGen:CA008784 |
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