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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.14173T>A (p.Tyr4725Asn) | RYR2 | Likely pathogenic | 1 | 237969458 | 237969458 | T | A | criteria provided, single submitter | ClinGen:CA10581136 |
| single nucleotide variant | NM_001035.3(RYR2):c.13904T>A (p.Ile4635Asn) | RYR2 | Likely pathogenic | 1 | 237957288 | 237957288 | T | A | criteria provided, single submitter | ClinGen:CA16610067 |
| single nucleotide variant | NM_001035.3(RYR2):c.13748C>A (p.Ser4583Tyr) | RYR2 | Likely pathogenic | 1 | 237955589 | 237955589 | C | A | criteria provided, single submitter | ClinGen:CA10588286 |
| single nucleotide variant | NM_001035.3(RYR2):c.13737C>A (p.His4579Gln) | RYR2 | Likely pathogenic | 1 | 237955578 | 237955578 | C | A | criteria provided, single submitter | ClinGen:CA10586348 |
| 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.13489C>T (p.Arg4497Cys) | RYR2 | Pathogenic | 1 | 237954741 | 237954741 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007921,UniProtKB:Q92736#VAR_011402,OMIM:180902.0004 |
| single nucleotide variant | NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg) | RYR2 | Pathogenic | 1 | 237947614 | 237947614 | A | G | criteria provided, single submitter | ClinGen:CA007638,UniProtKB:Q92736#VAR_011401,OMIM:180902.0009 |
| single nucleotide variant | NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu) | RYR2 | Likely pathogenic | 1 | 237947601 | 237947601 | A | C | criteria provided, single submitter | - |
| 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.12578G>A (p.Cys4193Tyr) | RYR2 | Likely pathogenic | 1 | 237947590 | 237947590 | G | A | criteria provided, single submitter | - |
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