| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa and erythrocytic microcytosis | |
| | CRBN, TRNT1 (C391R +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Intellectual disability, autosomal recessive 2 +1 more | |
| | | Copy number loss | not provided | |
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