Deletion | NM_000540.3(RYR1):c.11178_11193+7del | RYR1 | Likely pathogenic | 19 | 39023164 | 39023186 | TGCTGATATCATGGCAAAGGTGAG | T | criteria provided, single submitter | - |
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.3291C>T (p.Gly1097=) | RYR1 | Likely pathogenic | 19 | 38958362 | 38958362 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000540.3(RYR1):c.8159C>A (p.Ser2720Ter) | RYR1 | Pathogenic | 19 | 38995479 | 38995479 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000540.3(RYR1):c.2485C>T (p.Arg829Ter) | RYR1 | Pathogenic | 19 | 38951139 | 38951139 | C | T | criteria provided, single submitter | - |
Deletion | NM_000540.2(RYR1):c.14970delG | RYR1 | Likely pathogenic | 19 | 39077164 | 39077164 | AG | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000540.3(RYR1):c.838C>T (p.Arg280Ter) | RYR1 | Pathogenic | 19 | 38939032 | 38939032 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter) | RYR1 | Pathogenic/Likely pathogenic | 19 | 38974059 | 38974059 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000540.3(RYR1):c.15016G>A (p.Gly5006Ser) | RYR1 | Pathogenic/Likely pathogenic | 19 | 39077211 | 39077211 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000540.3(RYR1):c.14869-1G>T | RYR1 | Pathogenic | 19 | 39076730 | 39076730 | G | T | criteria provided, single submitter | - |