| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | LIMS3, LIMS3-LOC440895 +33 more | Copy number gain | Autism spectrum disorder | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Tetralogy of Fallot +1 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | C2orf15, C2orf49 +122 more | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LIMS3, LIMS3-LOC440895 +15 more | Duplication | Autism spectrum disorder +1 more | |
| | | Copy number gain | See cases | |
| | ACOXL, ACOXL-AS1 +154 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LIMS3, LIMS3-LOC440895 +13 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
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