single nucleotide variant | NM_003239.5(TGFB3):c.826C>T (p.Pro276Ser) | TGFB3 | Likely pathogenic | 14 | 76429759 | 76429759 | G | A | criteria provided, single submitter | ClinGen:CA16607020 |
single nucleotide variant | NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) | TGFB3 | Pathogenic/Likely pathogenic | 14 | 76429687 | 76429687 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA203905,OMIM:190230.0006 |
single nucleotide variant | NM_003239.5(TGFB3):c.899G>A (p.Arg300Gln) | TGFB3 | Pathogenic | 14 | 76429686 | 76429686 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA170541,OMIM:190230.0004 |
single nucleotide variant | NM_001035.3(RYR2):c.14683A>C (p.Asn4895His) | RYR2 | Likely pathogenic | 1 | 237993857 | 237993857 | A | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001035.3(RYR2):c.14224C>T (p.His4742Tyr) | RYR2 | Likely pathogenic | 1 | 237969509 | 237969509 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001035.3(RYR2):c.12589A>C (p.Ile4197Leu) | RYR2 | Likely pathogenic | 1 | 237947601 | 237947601 | A | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001035.3(RYR2):c.12578G>A (p.Cys4193Tyr) | RYR2 | Likely pathogenic | 1 | 237947590 | 237947590 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001035.3(RYR2):c.11865G>C (p.Gln3955His) | RYR2 | Likely pathogenic | 1 | 237942055 | 237942055 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001035.3(RYR2):c.11837G>A (p.Gly3946Asp) | RYR2 | Pathogenic | 1 | 237942027 | 237942027 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001035.3(RYR2):c.11590A>G (p.Asn3864Asp) | RYR2 | Likely pathogenic | 1 | 237935344 | 237935344 | A | G | criteria provided, single submitter | - |