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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.14885A>G (p.Tyr4962Cys) | RYR2 | Likely pathogenic | 1 | 237995928 | 237995928 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA008466 |
| single nucleotide variant | NM_001035.3(RYR2):c.14845T>C (p.Trp4949Arg) | RYR2 | Likely pathogenic | 1 | 237995888 | 237995888 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA008433 |
| single nucleotide variant | NM_001035.3(RYR2):c.14804G>C (p.Gly4935Ala) | RYR2 | Likely pathogenic | 1 | 237994861 | 237994861 | G | C | criteria provided, single submitter | ClinGen:CA008410 |
| single nucleotide variant | NM_001035.3(RYR2):c.14623G>C (p.Asp4875His) | RYR2 | Likely pathogenic | 1 | 237991713 | 237991713 | G | C | criteria provided, single submitter | ClinGen:CA008317 |
| single nucleotide variant | NM_001035.3(RYR2):c.13528G>T (p.Ala4510Ser) | RYR2 | Likely pathogenic | 1 | 237954780 | 237954780 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007958 |
| single nucleotide variant | NM_001035.3(RYR2):c.12583G>A (p.Asp4195Asn) | RYR2 | Likely pathogenic | 1 | 237947595 | 237947595 | G | A | criteria provided, single submitter | ClinGen:CA007613 |
| single nucleotide variant | NM_001035.3(RYR2):c.12301C>T (p.Leu4101Phe) | RYR2 | Likely pathogenic | 1 | 237947313 | 237947313 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007454 |
| single nucleotide variant | NM_001035.3(RYR2):c.12268C>T (p.Pro4090Ser) | RYR2 | Likely pathogenic | 1 | 237947280 | 237947280 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007392 |
| single nucleotide variant | NM_001035.3(RYR2):c.11995A>G (p.Met3999Val) | RYR2 | Likely pathogenic | 1 | 237947007 | 237947007 | A | G | criteria provided, single submitter | ClinGen:CA007307 |
| single nucleotide variant | NM_001035.3(RYR2):c.11959G>A (p.Glu3987Lys) | RYR2 | Likely pathogenic | 1 | 237944943 | 237944943 | G | A | criteria provided, single submitter | ClinGen:CA007253 |
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