single nucleotide variant | NM_001035.3(RYR2):c.14885A>G (p.Tyr4962Cys) | RYR2 | Likely pathogenic | 1 | 237995928 | 237995928 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA008466 |
single nucleotide variant | NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) | RYR2 | Pathogenic/Likely pathogenic | 1 | 237995919 | 237995919 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA008450,UniProtKB:Q92736#VAR_023696 |
single nucleotide variant | NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu) | RYR2 | Pathogenic | 1 | 237995907 | 237995907 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA345410956 |
single nucleotide variant | NM_001035.3(RYR2):c.14849A>G (p.Glu4950Gly) | RYR2 | Likely pathogenic | 1 | 237995892 | 237995892 | A | G | criteria provided, single submitter | ClinGen:CA16042325 |
single nucleotide variant | NM_001035.3(RYR2):c.14845T>C (p.Trp4949Arg) | RYR2 | Likely pathogenic | 1 | 237995888 | 237995888 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA008433 |
single nucleotide variant | NM_001035.3(RYR2):c.14804G>C (p.Gly4935Ala) | RYR2 | Likely pathogenic | 1 | 237994861 | 237994861 | G | C | criteria provided, single submitter | ClinGen:CA008410 |
single nucleotide variant | NM_001035.3(RYR2):c.14704C>T (p.Pro4902Ser) | RYR2 | Pathogenic | 1 | 237993878 | 237993878 | C | T | criteria provided, single submitter | ClinGen:CA008352 |
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.14623G>C (p.Asp4875His) | RYR2 | Likely pathogenic | 1 | 237991713 | 237991713 | G | C | criteria provided, single submitter | ClinGen:CA008317 |
single nucleotide variant | NM_001035.3(RYR2):c.14600T>C (p.Ile4867Thr) | RYR2 | Pathogenic | 1 | 237991690 | 237991690 | T | C | criteria provided, single submitter | ClinGen:CA16617111 |