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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.2011G>T (p.Glu671Ter) | MLH1 | Pathogenic | 3 | 37090416 | 37090416 | G | T | reviewed by expert panel | ClinGen:CA008195 |
| Deletion | NM_000249.4(MLH1):c.201del (p.Ile68fs) | MLH1 | Pathogenic | 3 | 37038192 | 37038192 | CG | C | reviewed by expert panel | ClinGen:CA008214 |
| single nucleotide variant | NM_000249.4(MLH1):c.2027T>G (p.Leu676Arg) | MLH1 | Likely pathogenic | 3 | 37090432 | 37090432 | T | G | criteria provided, single submitter | - |
| single nucleotide variant | NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter) | MLH1 | Pathogenic | 3 | 37090440 | 37090440 | G | T | reviewed by expert panel | ClinGen:CA008258 |
| single nucleotide variant | NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg) | MLH1 | Likely pathogenic | 3 | 37090443 | 37090443 | T | C | reviewed by expert panel | ClinGen:CA008266 |
| single nucleotide variant | NM_000249.4(MLH1):c.203T>A (p.Ile68Asn) | MLH1 | Likely pathogenic | 3 | 37038196 | 37038196 | T | A | reviewed by expert panel | ClinGen:CA008282,UniProtKB:P40692#VAR_004440 |
| single nucleotide variant | NM_000249.4(MLH1):c.2040C>A (p.Cys680Ter) | MLH1 | Pathogenic | 3 | 37090445 | 37090445 | C | A | reviewed by expert panel | ClinGen:CA008289 |
| single nucleotide variant | NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser) | MLH1 | Likely pathogenic | 3 | 37090453 | 37090453 | T | C | reviewed by expert panel | ClinGen:CA008321 |
| single nucleotide variant | NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp) | MLH1 | Pathogenic | 3 | 37090464 | 37090464 | C | T | reviewed by expert panel | ClinGen:CA008336,UniProtKB:P40692#VAR_012931 |
| Deletion | NM_000249.4(MLH1):c.205del (p.Arg69fs) | MLH1 | Pathogenic | 3 | 37038198 | 37038198 | CA | C | reviewed by expert panel | ClinGen:CA008346 |
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