| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | See cases | |
| | AVPR1B, AVPR1B-DT +278 more | Deletion | Autism | |
| | LOC129388734, LOC129388735 +723 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 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Insertion (5 prime UTR variant) | not specified | |
| | | Duplication | Epilepsy, familial adult myoclonic, 5 | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Duplication | Gastrointestinal stromal tumor +2 more | |
| | | Copy number gain | not provided | |
| | C1orf35, C1orf74 +320 more | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Global developmental delay +2 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
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