Deletion | NM_001035.3(RYR2):c.512_514del (p.Glu171del) | RYR2 | Likely pathogenic | 1 | 237540669 | 237540671 | CAGA | C | criteria provided, single submitter | ClinGen:CA009784 |
single nucleotide variant | NM_001035.3(RYR2):c.527G>T (p.Arg176Leu) | RYR2 | Likely pathogenic | 1 | 237540686 | 237540686 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA009824 |
single nucleotide variant | NM_001035.3(RYR2):c.1066T>G (p.Tyr356Asp) | RYR2 | Likely pathogenic | 1 | 237604679 | 237604679 | T | G | criteria provided, single submitter | ClinGen:CA006732 |
single nucleotide variant | NM_001035.3(RYR2):c.1646C>T (p.Ala549Val) | RYR2 | Likely pathogenic | 1 | 237632425 | 237632425 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001035.3(RYR2):c.6598C>T (p.Leu2200Phe) | RYR2 | Likely pathogenic | 1 | 237796920 | 237796920 | C | T | criteria provided, single submitter | ClinGen:CA010231 |
single nucleotide variant | NM_001035.3(RYR2):c.6683G>T (p.Gly2228Val) | RYR2 | Likely pathogenic | 1 | 237797005 | 237797005 | G | T | criteria provided, single submitter | ClinGen:CA010248 |
single nucleotide variant | NM_001035.3(RYR2):c.6883G>A (p.Gly2295Arg) | RYR2 | Likely pathogenic | 1 | 237801747 | 237801747 | G | A | criteria provided, single submitter | ClinGen:CA010358 |
single nucleotide variant | NM_001035.3(RYR2):c.6940G>A (p.Glu2314Lys) | RYR2 | Likely pathogenic | 1 | 237802326 | 237802326 | G | A | criteria provided, single submitter | ClinGen:CA010419 |
single nucleotide variant | NM_001035.3(RYR2):c.6950C>A (p.Ala2317Glu) | RYR2 | Likely pathogenic | 1 | 237802336 | 237802336 | C | A | criteria provided, single submitter | ClinGen:CA010438 |
single nucleotide variant | NM_001035.3(RYR2):c.7385C>T (p.Pro2462Leu) | RYR2 | Likely pathogenic | 1 | 237811786 | 237811786 | C | T | criteria provided, single submitter | ClinGen:CA010694 |