single nucleotide variant | NM_001035.3(RYR2):c.7256T>G (p.Ile2419Ser) | RYR2 | Likely pathogenic | 1 | 237806661 | 237806661 | T | G | criteria provided, single submitter | - |
single nucleotide variant | NM_001035.3(RYR2):c.854G>T (p.Ser285Ile) | RYR2 | Likely pathogenic | 1 | 237586397 | 237586397 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001035.3(RYR2):c.11788G>C (p.Gly3930Arg) | RYR2 | Likely pathogenic | 1 | 237941978 | 237941978 | G | C | criteria provided, single submitter | - |
copy number gain | GRCh37/hg19 1q43(chr1:237413038-237540797) | RYR2 | Pathogenic | 1 | 237413038 | 237540797 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_001035.3(RYR2):c.12477G>T (p.Gln4159His) | RYR2 | Likely pathogenic | 1 | 237947489 | 237947489 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001035.3(RYR2):c.11624T>C (p.Val3875Ala) | RYR2 | Likely pathogenic | 1 | 237935378 | 237935378 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001035.3(RYR2):c.6646G>C (p.Asp2216His) | RYR2 | Pathogenic | 1 | 237796968 | 237796968 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met) | RYR2 | Pathogenic | 1 | 237982488 | 237982488 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_001035.3(RYR2):c.12539G>T (p.Gly4180Val) | RYR2 | Likely pathogenic | 1 | 237947551 | 237947551 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001035.3(RYR2):c.11863C>G (p.Gln3955Glu) | RYR2 | Likely pathogenic | 1 | 237942053 | 237942053 | C | G | criteria provided, single submitter | - |