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.1202G>A (p.Arg401His) | RYR1 | Pathogenic | 19 | 38942483 | 38942483 | G | A | reviewed by expert panel | ClinGen:CA023959,UniProtKB:P21817#VAR_045706 |
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.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.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.838C>T (p.Arg280Ter) | RYR1 | Pathogenic | 19 | 38939032 | 38939032 | C | T | criteria provided, single submitter | - |
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.742G>C (p.Gly248Arg) | RYR1 | Pathogenic | 19 | 38937350 | 38937350 | G | C | reviewed by expert panel | ClinGen:CA024799,UniProtKB:P21817#VAR_005591 |
single nucleotide variant | NM_000540.3(RYR1):c.742G>A (p.Gly248Arg) | RYR1 | Likely pathogenic | 19 | 38937350 | 38937350 | G | A | reviewed by expert panel | ClinGen:CA024797,UniProtKB:P21817#VAR_005591,OMIM:180901.0002 |
single nucleotide variant | NM_000540.3(RYR1):c.529C>T (p.Arg177Cys) | RYR1 | Pathogenic | 19 | 38934893 | 38934893 | C | T | reviewed by expert panel | ClinGen:CA024503,UniProtKB:P21817#VAR_045700 |