| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy +1 more | |
| | RYR3, AVEN (E4704K +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | RYR3-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | AVEN, RYR3 (M4821I +1 more) | Single nucleotide variant (missense variant) | RYR3-related disorder | |
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