| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | RYR3, AVEN
+1 more (E4568Q +1 more) | Single nucleotide variant (missense variant) | RYR3-related Epileptic encephalopathy +1 more | |
| | AVEN, RYR3 (E4695Q +1 more) | Single nucleotide variant (missense variant) | Seizure | |
| | AVEN, RYR3 (T4832M +1 more) | Single nucleotide variant (missense variant) | RYR3-related Epileptic encephalopathy | |
| | AVEN, RYR3 (R4862H +1 more) | Single nucleotide variant (missense variant) | Epileptic encephalopathy +1 more | |
Click to view in NCBI Gene