| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Intellectual disability, autosomal dominant 42 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Microcephaly +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Intellectual disability, autosomal dominant 42 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Intellectual disability, autosomal dominant 42 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
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