single nucleotide variant | NM_000540.3(RYR1):c.784G>T (p.Glu262Ter) | RYR1 | Pathogenic | 19 | 38937392 | 38937392 | G | T | criteria provided, single submitter | ClinGen:CA405680456 |
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.1021G>A (p.Gly341Arg) | RYR1 | Pathogenic | 19 | 38939352 | 38939352 | G | A | reviewed by expert panel | ClinGen:CA023827,UniProtKB:P21817#VAR_005592,OMIM:180901.0006 |
single nucleotide variant | NM_000540.3(RYR1):c.1021G>C (p.Gly341Arg) | RYR1 | Pathogenic | 19 | 38939352 | 38939352 | G | C | reviewed by expert panel | ClinGen:CA023828,UniProtKB:P21817#VAR_005592 |
single nucleotide variant | NM_000540.3(RYR1):c.1186G>A (p.Glu396Lys) | RYR1 | Likely pathogenic | 19 | 38942467 | 38942467 | G | A | criteria provided, single submitter | ClinGen:CA16043553 |
single nucleotide variant | NM_000540.3(RYR1):c.1202G>A (p.Arg401His) | RYR1 | Pathogenic | 19 | 38942483 | 38942483 | G | A | reviewed by expert panel | ClinGen:CA023959,UniProtKB:P21817#VAR_045706 |
Deletion | NM_000540.3(RYR1):c.1218del (p.Asn407fs) | RYR1 | Pathogenic | 19 | 38942498 | 38942498 | AC | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000540.3(RYR1):c.1342A>T (p.Ile448Phe) | RYR1 | Pathogenic | 19 | 38943556 | 38943556 | A | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000540.3(RYR1):c.1440+1G>A | RYR1 | Likely pathogenic | 19 | 38943655 | 38943655 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000540.3(RYR1):c.1565A>G (p.Tyr522Cys) | RYR1 | Likely pathogenic | 19 | 38945999 | 38945999 | A | G | reviewed by expert panel | ClinGen:CA024287 |