| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Global developmental delay | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 46 +3 more | GPathogenic/Likely pathogenic |
| | MEA1, PPP2R5D (E198K +3 more) | Single nucleotide variant (missense variant) | Intellectual disability +6 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | ZMYND11-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +12 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | KBG syndrome +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Syndromic X-linked intellectual disability Lubs type +7 more | |
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