single nucleotide variant | NM_000540.3(RYR1):c.1901C>G (p.Thr634Arg) | RYR1 | Likely pathogenic | 19 | 38948246 | 38948246 | C | G | criteria provided, single submitter | ClinGen:CA405694267 |
Deletion | NM_000540.3(RYR1):c.1878_1882del (p.Pro626_Gly627insTer) | RYR1 | Pathogenic | 19 | 38948220 | 38948224 | TGCCTG | T | criteria provided, single submitter | ClinGen:CA205848 |
single nucleotide variant | NM_000540.3(RYR1):c.1841G>A (p.Arg614His) | RYR1 | Likely pathogenic | 19 | 38948186 | 38948186 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000540.3(RYR1):c.1840C>G (p.Arg614Gly) | RYR1 | Likely pathogenic | 19 | 38948185 | 38948185 | C | G | criteria provided, single submitter | ClinGen:CA405693889 |
Duplication | NM_000540.3(RYR1):c.1739_1742dup (p.His581fs) | RYR1 | Pathogenic | 19 | 38946337 | 38946338 | G | GAATC | criteria provided, single submitter | ClinGen:CA024307,OMIM:180901.0032 |
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.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.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.1440+1G>A | RYR1 | Likely pathogenic | 19 | 38943655 | 38943655 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000540.3(RYR1):c.1342A>T (p.Ile448Phe) | RYR1 | Pathogenic | 19 | 38943556 | 38943556 | A | T | criteria provided, single submitter | - |