Variants
RYR2 variants
The 24 RYR2 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A2387T | c.7159G>A | Exon 47 | 237,640,940 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A2387V | c.7160C>T | Exon 47 | 237,640,941 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A4091V | c.12272C>T | Exon 90 | 237,783,984 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A4510T | c.13528G>A | Exon 93 | 237,791,480 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D3291V | c.9872A>T | Exon 68 | 237,707,240 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D4112N | c.12334G>A | Exon 90 | 237,784,046 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F4851L | c.14553C>A | Exon 101 | 237,819,155 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G357S | c.1069G>A | Exon 13 | 237,441,382 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I4926T | c.14777T>C | Exon 104 | 237,831,534 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L4105F | c.12313C>T | Exon 90 | 237,784,025 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N4178S | c.12533A>G | Exon 90 | 237,784,245 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R169Q | c.506G>A | Exon 8 | 237,377,365 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R176Q | c.527G>A | Exon 8 | 237,377,386 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R414C | c.1240C>T | Exon 14 | 237,445,470 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R420Q | c.1259G>A | Exon 14 | 237,445,489 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R420W | c.1258C>T | Exon 14 | 237,445,488 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R2401H | c.7202G>A | Exon 47 | 237,640,983 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R4608Q | c.13823G>A | Exon 95 | 237,793,907 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R4959Q | c.14876G>A | Exon 105 | 237,832,619 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V3875L | c.11623G>T | Exon 86 | 237,772,077 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V4771I | c.14311G>A | Exon 100 | 237,808,913 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y115C | c.344A>G | Exon 6 | 237,369,568 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y2392C | c.7175A>G | Exon 47 | 237,640,956 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y4149C | c.12446A>G | Exon 90 | 237,784,158 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |