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 | - |
single nucleotide variant | NM_000540.3(RYR1):c.13672C>G (p.Arg4558Gly) | RYR1 | Pathogenic | 19 | 39061259 | 39061259 | C | G | criteria provided, single submitter | - |
Duplication | NM_000540.3(RYR1):c.13609_13631dup (p.Val4547fs) | RYR1 | Pathogenic | 19 | 39058505 | 39058506 | A | AAGCTGGAGGCGAATTCTGGGGAG | criteria provided, single submitter | - |
single nucleotide variant | NM_000540.3(RYR1):c.13498G>T (p.Glu4500Ter) | RYR1 | Pathogenic | 19 | 39057611 | 39057611 | G | T | criteria provided, single submitter | - |
Deletion | NM_000540.3(RYR1):c.13058del (p.Gly4353fs) | RYR1 | Pathogenic | 19 | 39056030 | 39056030 | CG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000540.3(RYR1):c.11697G>C (p.Gln3899His) | RYR1 | Likely pathogenic | 19 | 39033994 | 39033994 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000540.3(RYR1):c.10799C>G (p.Ser3600Ter) | RYR1 | Pathogenic | 19 | 39018399 | 39018399 | C | G | criteria provided, single submitter | - |