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 | - |
single nucleotide variant | NM_000540.3(RYR1):c.14822T>G (p.Phe4941Cys) | RYR1 | Likely pathogenic | 19 | 39076596 | 39076596 | T | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000540.3(RYR1):c.14807T>G (p.Leu4936Arg) | RYR1 | Pathogenic/Likely pathogenic | 19 | 39076581 | 39076581 | T | G | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000540.3(RYR1):c.14545_14571dup (p.Val4849_Phe4857dup) | RYR1 | Likely pathogenic | 19 | 39071040 | 39071041 | G | GTCGTCTACCTGTACACCGTGGTGGCCT | criteria provided, single submitter | - |
single nucleotide variant | NM_000540.3(RYR1):c.14173-2A>G | RYR1 | Pathogenic/Likely pathogenic | 19 | 39068556 | 39068556 | A | G | criteria provided, multiple submitters, no conflicts | - |