| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | RORA-AS1, RORA (S226F +3 more) | Single nucleotide variant (missense variant) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | |
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