| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hydrops fetalis | |
| | AVEN, RYR3
+1 more (A4650T +1 more) | Single nucleotide variant (missense variant) | Arthrogryposis multiplex congenita +1 more | |
Click to view in NCBI Gene