single nucleotide variant | NM_000540.3(RYR1):c.1565A>G (p.Tyr522Cys) | RYR1 | Likely pathogenic | 19 | 38945999 | 38945999 | A | G | reviewed by expert panel | ClinGen:CA024287 |
single nucleotide variant | NM_000540.3(RYR1):c.1589G>A (p.Arg530His) | RYR1 | Likely pathogenic | 19 | 38946103 | 38946103 | G | A | reviewed by expert panel | ClinGen:CA024291,UniProtKB:P21817#VAR_058563 |
single nucleotide variant | NM_000540.3(RYR1):c.1615T>C (p.Phe539Leu) | RYR1 | Likely pathogenic | 19 | 38946129 | 38946129 | T | C | reviewed by expert panel | ClinGen:CA024297 |
single nucleotide variant | NM_000540.3(RYR1):c.38T>G (p.Leu13Arg) | RYR1 | Likely pathogenic | 19 | 38924507 | 38924507 | T | G | reviewed by expert panel | UniProtKB:P21817#VAR_058560,ClinGen:CA024414 |
single nucleotide variant | NM_000540.3(RYR1):c.463C>A (p.Gln155Lys) | RYR1 | Likely pathogenic | 19 | 38934827 | 38934827 | C | A | reviewed by expert panel | ClinGen:CA024451 |
single nucleotide variant | NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) | RYR1 | Likely pathogenic | 19 | 38976478 | 38976478 | C | T | reviewed by expert panel | ClinGen:CA024494 |
single nucleotide variant | NM_000540.3(RYR1):c.5988C>T (p.Arg1996=) | RYR1 | Likely pathogenic | 19 | 38980889 | 38980889 | C | T | criteria provided, single submitter | ClinGen:CA024548 |
single nucleotide variant | NM_000540.3(RYR1):c.6349G>C (p.Val2117Leu) | RYR1 | Likely pathogenic | 19 | 38985066 | 38985066 | G | C | reviewed by expert panel | ClinGen:CA024566,UniProtKB:P21817#VAR_045712 |
single nucleotide variant | NM_000540.3(RYR1):c.6387C>G (p.Asp2129Glu) | RYR1 | Likely pathogenic | 19 | 38985104 | 38985104 | C | G | reviewed by expert panel | ClinGen:CA024575,UniProtKB:P21817#VAR_045713 |
single nucleotide variant | NM_000540.3(RYR1):c.6488G>C (p.Arg2163Pro) | RYR1 | Likely pathogenic | 19 | 38985205 | 38985205 | G | C | reviewed by expert panel | ClinGen:CA024596,UniProtKB:P21817#VAR_008972 |