| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ILRUN-AS1, IP6K3
+2582 more | Copy number gain | See cases | |
| | | Duplication | Intellectual disability, autosomal dominant 5 | |
| | HCG25, VPS52 (P506L +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | HCG25, VPS52 (R454H +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | HCG25, VPS52 (R500H +3 more) | Single nucleotide variant (missense variant) | not specified | |
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