single nucleotide variant | NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro) | RYR1 | Likely pathogenic | 19 | 39062861 | 39062861 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA024091,UniProtKB:P21817#VAR_045744 |
single nucleotide variant | NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) | RYR1 | Likely pathogenic | 19 | 38991538 | 38991538 | C | T | reviewed by expert panel | ClinGen:CA024819,UniProtKB:P21817#VAR_075399,OMIM:180901.0043 |
single nucleotide variant | NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) | RYR1 | Likely pathogenic | 19 | 39025415 | 39025415 | G | A | reviewed by expert panel | ClinGen:CA023909,UniProtKB:P21817#VAR_045734 |
single nucleotide variant | NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln) | RYR1 | Likely pathogenic | 19 | 39034005 | 39034005 | G | A | reviewed by expert panel | ClinGen:CA023926 |
single nucleotide variant | NM_000540.3(RYR1):c.12149C>A (p.Ser4050Tyr) | RYR1 | Likely pathogenic | 19 | 39038927 | 39038927 | C | A | reviewed by expert panel | ClinGen:CA023971 |
single nucleotide variant | NM_000540.3(RYR1):c.12700G>C (p.Val4234Leu) | RYR1 | Likely pathogenic | 19 | 39055674 | 39055674 | G | C | reviewed by expert panel | ClinGen:CA024001,UniProtKB:P21817#VAR_045738 |
single nucleotide variant | NM_000540.3(RYR1):c.14209C>T (p.Arg4737Trp) | RYR1 | Likely pathogenic | 19 | 39068594 | 39068594 | C | T | reviewed by expert panel | ClinGen:CA024116,UniProtKB:P21817#VAR_045750 |
single nucleotide variant | NM_000540.3(RYR1):c.14627A>G (p.Lys4876Arg) | RYR1 | Likely pathogenic | 19 | 39071125 | 39071125 | A | G | reviewed by expert panel | ClinGen:CA024200,UniProtKB:P21817#VAR_045766 |
single nucleotide variant | NM_000540.3(RYR1):c.14804-1G>T | RYR1 | Likely pathogenic | 19 | 39076577 | 39076577 | G | T | criteria provided, single submitter | ClinGen:CA024259 |
single nucleotide variant | NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) | RYR1 | Likely pathogenic | 19 | 39076780 | 39076780 | C | T | reviewed by expert panel | ClinGen:CA024276,UniProtKB:P21817#VAR_045782 |