single nucleotide variant | NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala) | RYR1 | Pathogenic/Likely pathogenic | 19 | 39062821 | 39062821 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA024078,UniProtKB:P21817#VAR_045740,OMIM:180901.0030 |
Duplication | NM_000540.3(RYR1):c.1739_1742dup (p.His581fs) | RYR1 | Pathogenic | 19 | 38946337 | 38946338 | G | GAATC | criteria provided, single submitter | ClinGen:CA024307,OMIM:180901.0032 |
Deletion | NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs) | RYR1 | Pathogenic/Likely pathogenic | 19 | 39055982 | 39056001 | TCTGGGCAGCAGTGACGCGCG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA024029,OMIM:180901.0034 |
single nucleotide variant | NM_000540.3(RYR1):c.9978C>A (p.Asn3326Lys) | RYR1 | Likely pathogenic | 19 | 39008291 | 39008291 | C | A | criteria provided, single submitter | ClinGen:CA025011,UniProtKB:P21817#VAR_063848 |
single nucleotide variant | NM_000540.3(RYR1):c.97A>G (p.Lys33Glu) | RYR1 | Likely pathogenic | 19 | 38931436 | 38931436 | A | G | reviewed by expert panel | ClinGen:CA025005,OMIM:180901.0038 |
single nucleotide variant | NM_000540.3(RYR1):c.10348-6C>G | RYR1 | Pathogenic/Likely pathogenic | 19 | 39013851 | 39013851 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA023836,ClinVar:65396,OMIM:180901.0036 |
single nucleotide variant | NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val) | RYR1 | Pathogenic/Likely pathogenic | 19 | 39071035 | 39071035 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA024167,UniProtKB:P21817#VAR_045759 |
single nucleotide variant | NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val) | RYR1 | Likely pathogenic | 19 | 39075653 | 39075653 | C | T | criteria provided, single submitter | ClinGen:CA024241,UniProtKB:P21817#VAR_045774 |
single nucleotide variant | NM_000540.3(RYR1):c.13900G>A (p.Glu4634Lys) | RYR1 | Pathogenic | 19 | 39062812 | 39062812 | G | A | criteria provided, single submitter | ClinGen:CA024076 |
single nucleotide variant | NM_000540.3(RYR1):c.14762T>C (p.Phe4921Ser) | RYR1 | Likely pathogenic | 19 | 39075698 | 39075698 | T | C | criteria provided, single submitter | ClinGen:CA024251 |