| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | ILRUN-AS1, IP6K3 +2582 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | not provided | |
| | | Duplication | Proteasome-associated autoinflammatory syndrome 1 | |
| | | Copy number loss | Severe intrauterine growth retardation | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
Click to view in NCBI Gene