| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with dysmorphic facies and ptosis | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | ARPC4, ARPC4-TTLL3
+16 more | Copy number gain | not provided | |
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