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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.1990-1G>T | MLH1 | Likely pathogenic | 3 | 37090394 | 37090394 | G | T | reviewed by expert panel | ClinGen:CA008060 |
| single nucleotide variant | NM_000249.4(MLH1):c.1990-2A>G | MLH1 | Pathogenic | 3 | 37090393 | 37090393 | A | G | reviewed by expert panel | ClinGen:CA008068 |
| Deletion | NM_000249.3(MLH1):c.1990-?_(*193_?)del | MLH1 | Pathogenic | 3 | 37090395 | 37092337 | na | na | reviewed by expert panel | - |
| single nucleotide variant | NM_000249.4(MLH1):c.1998G>A (p.Trp666Ter) | MLH1 | Pathogenic | 3 | 37090403 | 37090403 | G | A | reviewed by expert panel | ClinGen:CA008096 |
| single nucleotide variant | NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) | MLH1 | Pathogenic | 3 | 37038192 | 37038192 | G | A | reviewed by expert panel | ClinGen:CA008104,UniProtKB:P40692#VAR_004439 |
| Deletion | NM_000249.4(MLH1):c.19_35del (p.Val7fs) | MLH1 | Pathogenic | 3 | 37035057 | 37035073 | GGTTATTCGGCGGCTGGA | G | reviewed by expert panel | ClinGen:CA007662 |
| single nucleotide variant | NM_000249.4(MLH1):c.1A>G (p.Met1Val) | MLH1 | Pathogenic | 3 | 37035039 | 37035039 | A | G | reviewed by expert panel | ClinGen:CA008127 |
| Duplication | NM_000249.4(MLH1):c.2000dup (p.Asp667fs) | MLH1 | Pathogenic | 3 | 37090404 | 37090405 | G | GA | reviewed by expert panel | ClinGen:CA008136 |
| Deletion | NM_000249.4(MLH1):c.2006_2010del (p.Glu669fs) | MLH1 | Pathogenic | 3 | 37090408 | 37090412 | GAAGAA | G | reviewed by expert panel | ClinGen:CA008162 |
| Deletion | NM_000249.4(MLH1):c.2009del (p.Lys670fs) | MLH1 | Pathogenic | 3 | 37090411 | 37090411 | GA | G | reviewed by expert panel | ClinGen:CA008179 |
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