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 | - |
single nucleotide variant | NM_000540.3(RYR1):c.13919T>G (p.Met4640Arg) | RYR1 | Pathogenic/Likely pathogenic | 19 | 39062831 | 39062831 | T | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000540.3(RYR1):c.13892A>G (p.Tyr4631Cys) | RYR1 | Pathogenic/Likely pathogenic | 19 | 39062804 | 39062804 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000540.3(RYR1):c.13836G>A (p.Trp4612Ter) | RYR1 | Likely pathogenic | 19 | 39062748 | 39062748 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000540.3(RYR1):c.13437+1G>A | RYR1 | Pathogenic | 19 | 39056412 | 39056412 | G | A | criteria provided, single submitter | - |
Deletion | NM_000540.3(RYR1):c.13260del (p.Asp4421fs) | RYR1 | Likely pathogenic | 19 | 39056234 | 39056234 | GA | G | criteria provided, single submitter | - |
Deletion | NM_000540.3(RYR1):c.13220del (p.Gly4407fs) | RYR1 | Pathogenic | 19 | 39056192 | 39056192 | AG | A | criteria provided, single submitter | - |