single nucleotide variant | NM_000540.3(RYR1):c.2290C>T (p.Gln764Ter) | RYR1 | Pathogenic/Likely pathogenic | 19 | 38949908 | 38949908 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000540.3(RYR1):c.13892A>C (p.Tyr4631Ser) | RYR1 | Pathogenic/Likely pathogenic | 19 | 39062804 | 39062804 | A | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro) | RYR1 | Pathogenic/Likely pathogenic | 19 | 38998423 | 38998423 | T | C | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000540.3(RYR1):c.7954dup (p.Trp2652fs) | RYR1 | Pathogenic/Likely pathogenic | 19 | 38994885 | 38994886 | G | GT | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter) | RYR1 | Pathogenic/Likely pathogenic | 19 | 38956844 | 38956844 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter) | CACNA1S | Pathogenic/Likely pathogenic | 1 | 201044724 | 201044724 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000069.3(CACNA1S):c.2812del (p.Leu938fs) | CACNA1S | Pathogenic/Likely pathogenic | 1 | 201035007 | 201035007 | AG | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) | CACNA1S | Pathogenic/Likely pathogenic | 1 | 201039491 | 201039491 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter) | CACNA1S | Pathogenic/Likely pathogenic | 1 | 201058386 | 201058386 | C | T | criteria provided, multiple submitters, no conflicts | - |
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 | - |