Deletion | NM_001232.4(CASQ2):c.213del (p.Gln71fs) | CASQ2 | Pathogenic/Likely pathogenic | 1 | 116310950 | 116310950 | GT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA301946 |
single nucleotide variant | NM_001232.4(CASQ2):c.606+1G>C | CASQ2 | Pathogenic/Likely pathogenic | 1 | 116275521 | 116275521 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA301900 |
single nucleotide variant | NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu) | CASQ2 | Pathogenic/Likely pathogenic | 1 | 116247829 | 116247829 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA301936 |
Duplication | NM_001232.4(CASQ2):c.1017dup (p.Asp340Ter) | CASQ2 | Pathogenic | 1 | 116244044 | 116244045 | C | CA | criteria provided, single submitter | - |
single nucleotide variant | NM_001035.3(RYR2):c.14565T>G (p.Ile4855Met) | RYR2 | Likely pathogenic | 1 | 237982467 | 237982467 | T | G | criteria provided, single submitter | ClinGen:CA008301 |
single nucleotide variant | NM_001035.3(RYR2):c.12325A>G (p.Met4109Val) | RYR2 | Likely pathogenic | 1 | 237947337 | 237947337 | A | G | criteria provided, single submitter | ClinGen:CA007471 |
single nucleotide variant | NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg) | RYR2 | Pathogenic | 1 | 237863752 | 237863752 | G | A | criteria provided, single submitter | ClinGen:CA011170 |
single nucleotide variant | NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu) | RYR2 | Likely pathogenic | 1 | 237656273 | 237656273 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA008618 |
single nucleotide variant | NM_001232.4(CASQ2):c.94G>A (p.Asp32Asn) | CASQ2 | Likely pathogenic | 1 | 116311069 | 116311069 | C | T | criteria provided, single submitter | ClinGen:CA301922 |
Indel | NM_001232.4(CASQ2):c.578_580delinsAC (p.Ile193fs) | CASQ2 | Likely pathogenic | 1 | 116275548 | 116275550 | TGA | GT | criteria provided, single submitter | ClinGen:CA261480 |