| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | See cases | |
| | PCDHG@, PCDHGA1
+2 more (I154L) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | PCDHG@, PCDHGA1
+4 more (A181T) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | PCDHG@, PCDHGA1
+5 more (R679P) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | PCDHG@, PCDHGA1
+5 more (K687E) | Single nucleotide variant (missense variant +1 more) | not provided | |
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