| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NUP88, RABEP1 (N733S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | NUP88, RABEP1 (N740I +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC130060072, RABEP1 (S8P) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130060072, RABEP1 (A2E) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Fetal akinesia deformation sequence 4 +1 more | |
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