single nucleotide variant | NM_000540.3(RYR1):c.742G>A (p.Gly248Arg) | RYR1 | Likely pathogenic | 19 | 38937350 | 38937350 | G | A | reviewed by expert panel | ClinGen:CA024797,UniProtKB:P21817#VAR_005591,OMIM:180901.0002 |
single nucleotide variant | NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp) | RYR1 | Likely pathogenic | 19 | 38994959 | 38994959 | C | T | reviewed by expert panel | ClinGen:CA024883,UniProtKB:P21817#VAR_045729,OMIM:180901.0023,ClinVar:12985 |
single nucleotide variant | NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu) | CACNA1S | Likely pathogenic | 1 | 201036045 | 201036045 | A | T | criteria provided, single submitter | ClinGen:CA004028,OMIM:114208.0009 |
single nucleotide variant | NM_000540.3(RYR1):c.9978C>A (p.Asn3326Lys) | RYR1 | Likely pathogenic | 19 | 39008291 | 39008291 | C | A | criteria provided, single submitter | ClinGen:CA025011,UniProtKB:P21817#VAR_063848 |
single nucleotide variant | NM_000540.3(RYR1):c.97A>G (p.Lys33Glu) | RYR1 | Likely pathogenic | 19 | 38931436 | 38931436 | A | G | reviewed by expert panel | ClinGen:CA025005,OMIM:180901.0038 |
single nucleotide variant | NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val) | RYR1 | Likely pathogenic | 19 | 39075653 | 39075653 | C | T | criteria provided, single submitter | ClinGen:CA024241,UniProtKB:P21817#VAR_045774 |
single nucleotide variant | NM_000540.3(RYR1):c.14762T>C (p.Phe4921Ser) | RYR1 | Likely pathogenic | 19 | 39075698 | 39075698 | T | C | criteria provided, single submitter | ClinGen:CA024251 |
single nucleotide variant | NM_000540.3(RYR1):c.13912G>A (p.Gly4638Ser) | RYR1 | Likely pathogenic | 19 | 39062824 | 39062824 | G | A | criteria provided, single submitter | ClinGen:CA024082 |
single nucleotide variant | NM_000540.3(RYR1):c.14659C>T (p.His4887Tyr) | RYR1 | Likely pathogenic | 19 | 39075595 | 39075595 | C | T | criteria provided, single submitter | ClinGen:CA024212 |
single nucleotide variant | NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr) | RYR1 | Likely pathogenic | 19 | 38991280 | 38991280 | T | C | reviewed by expert panel | ClinGen:CA024775 |