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カテコラミン誘発性多形性心室頻拍
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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_001035.3(RYR2):c.11965A>G (p.Asn3989Asp) | RYR2 | Pathogenic/Likely pathogenic | 1 | 237946977 | 237946977 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA007278 |
| single nucleotide variant | NM_001035.3(RYR2):c.11934G>A (p.Met3978Ile) | RYR2 | Pathogenic/Likely pathogenic | 1 | 237944918 | 237944918 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007229 |
| single nucleotide variant | NM_001035.3(RYR2):c.7202G>T (p.Arg2401Leu) | RYR2 | Pathogenic/Likely pathogenic | 1 | 237804283 | 237804283 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA010635 |
| single nucleotide variant | NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) | RYR2 | Pathogenic/Likely pathogenic | 1 | 237804283 | 237804283 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA010625 |
| single nucleotide variant | NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val) | RYR2 | Pathogenic/Likely pathogenic | 1 | 237804241 | 237804241 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA010582 |
| single nucleotide variant | NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr) | RYR2 | Pathogenic/Likely pathogenic | 1 | 237804240 | 237804240 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA010573 |
| single nucleotide variant | NM_001035.3(RYR2):c.6916G>A (p.Val2306Ile) | RYR2 | Pathogenic/Likely pathogenic | 1 | 237801780 | 237801780 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA010384,UniProtKB:Q92736#VAR_023694 |
| single nucleotide variant | NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys) | RYR2 | Pathogenic/Likely pathogenic | 1 | 237777598 | 237777598 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA009802 |
| Deletion | NM_001232.4(CASQ2):c.213del (p.Gln71fs) | CASQ2 | Pathogenic/Likely pathogenic | 1 | 116310950 | 116310950 | GT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA301946 |
| single nucleotide variant | NM_001232.4(CASQ2):c.606+1G>C | CASQ2 | Pathogenic/Likely pathogenic | 1 | 116275521 | 116275521 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA301900 |
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