single nucleotide variant | NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys) | RYR2 | Pathogenic | 1 | 237982492 | 237982492 | G | T | criteria provided, single submitter | ClinGen:CA345426888 |
single nucleotide variant | NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met) | RYR2 | Pathogenic | 1 | 237982488 | 237982488 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_001035.3(RYR2):c.14585T>C (p.Ile4862Thr) | RYR2 | Likely pathogenic | 1 | 237982487 | 237982487 | T | C | criteria provided, single submitter | ClinGen:CA345426834 |
single nucleotide variant | NM_001035.3(RYR2):c.14565T>G (p.Ile4855Met) | RYR2 | Likely pathogenic | 1 | 237982467 | 237982467 | T | G | criteria provided, single submitter | ClinGen:CA008301 |
single nucleotide variant | NM_001035.3(RYR2):c.14341T>C (p.Tyr4781His) | RYR2 | Likely pathogenic | 1 | 237972243 | 237972243 | T | C | criteria provided, single submitter | ClinGen:CA345424190 |
single nucleotide variant | NM_001035.3(RYR2):c.14314G>A (p.Gly4772Ser) | RYR2 | Likely pathogenic | 1 | 237972216 | 237972216 | G | A | criteria provided, single submitter | ClinGen:CA008227 |
single nucleotide variant | NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile) | RYR2 | Pathogenic | 1 | 237972213 | 237972213 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA008220,UniProtKB:Q92736#VAR_044107 |
single nucleotide variant | NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu) | RYR2 | Pathogenic | 1 | 237969536 | 237969536 | A | G | criteria provided, single submitter | ClinGen:CA345423159 |
single nucleotide variant | NM_001035.3(RYR2):c.14251A>C (p.Lys4751Gln) | RYR2 | Pathogenic/Likely pathogenic | 1 | 237969536 | 237969536 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA008192 |
single nucleotide variant | NM_001035.3(RYR2):c.14224C>T (p.His4742Tyr) | RYR2 | Likely pathogenic | 1 | 237969509 | 237969509 | C | T | criteria provided, single submitter | - |