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.14129+1G>T | RYR1 | Likely pathogenic | 19 | 39063948 | 39063948 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000540.3(RYR1):c.10687-2A>G | RYR1 | Likely pathogenic | 19 | 39018285 | 39018285 | A | G | criteria provided, single submitter | - |
Deletion | NC_000019.10:g.(?_38502501)_(38502976_?)del | RYR1 | Pathogenic | 19 | 38993141 | 38993616 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000540.3(RYR1):c.7615-1G>T | RYR1 | Likely pathogenic | 19 | 38993146 | 38993146 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000540.3(RYR1):c.11608+2T>C | RYR1 | Likely pathogenic | 19 | 39027409 | 39027409 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000540.3(RYR1):c.14684G>T (p.Gly4895Val) | RYR1 | Pathogenic | 19 | 39075620 | 39075620 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000540.3(RYR1):c.14667C>A (p.Tyr4889Ter) | RYR1 | Pathogenic | 19 | 39075603 | 39075603 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000540.3(RYR1):c.14423T>G (p.Phe4808Cys) | RYR1 | Likely pathogenic | 19 | 39070680 | 39070680 | T | G | criteria provided, single submitter | - |
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 | - |