single nucleotide variant | NM_001035.3(RYR2):c.14314G>A (p.Gly4772Ser) | RYR2 | Likely pathogenic | 1 | 237972216 | 237972216 | G | A | criteria provided, single submitter | ClinGen:CA008227 |
single nucleotide variant | NM_006888.6(CALM1):c.161A>T (p.Asn54Ile) | CALM1 | Likely pathogenic | 14 | 90867729 | 90867729 | A | T | criteria provided, single submitter | ClinGen:CA343809,UniProtKB:P62158#VAR_069222,OMIM:114180.0001 |
single nucleotide variant | NM_001035.3(RYR2):c.12544G>C (p.Glu4182Gln) | RYR2 | Likely pathogenic | 1 | 237947556 | 237947556 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA007580 |
Indel | NM_001232.4(CASQ2):c.578_580delinsAC (p.Ile193fs) | CASQ2 | Likely pathogenic | 1 | 116275548 | 116275550 | TGA | GT | criteria provided, single submitter | ClinGen:CA261480 |
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 |
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_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.14565T>G (p.Ile4855Met) | RYR2 | Likely pathogenic | 1 | 237982467 | 237982467 | T | G | criteria provided, single submitter | ClinGen:CA008301 |
single nucleotide variant | NM_006888.6(CALM1):c.268T>C (p.Phe90Leu) | CALM1 | Likely pathogenic | 14 | 90870295 | 90870295 | T | C | criteria provided, single submitter | ClinGen:CA186017,UniProtKB:P62158#VAR_073275,OMIM:114180.0005 |
single nucleotide variant | NM_001035.3(RYR2):c.499A>G (p.Lys167Glu) | RYR2 | Likely pathogenic | 1 | 237540658 | 237540658 | A | G | criteria provided, single submitter | ClinGen:CA009746 |