| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | CRBN, TRNT1 (C391R +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal recessive 2 +1 more | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, autosomal recessive 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 2 | |
| | | Copy number loss | not provided | |
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