| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC130063041, LOC130063042 +687 more | Copy number gain | See cases | |
| | LOC130062978, LOC130062979 +903 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130063254, LOC130063255 +810 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | 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 (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | RASopathy | |
| | | Duplication | Progressive myoclonic epilepsy type 9 +1 more | |
| | | Copy number gain | not provided | |
| | ABHD17A, ADAMTSL5 +80 more | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | See cases | |
| | ADAMTSL5, PLEKHJ1 +106 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Neurodevelopmental disorder | |
| | | Deletion | Internal malformations | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Global developmental delay +2 more | |
| | PGLYRP1, PGLYRP2 +1364 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
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