| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Microphthalmia, syndromic 12 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 48 | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 48 +3 more | GPathogenic/Likely pathogenic |
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