| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | PCDHG@, PCDHGA1
+20 more (Q40*) | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental disorder with poor growth and skeletal anomalies | |
| | PCDHG@, PCDHGA1
+20 more (F108fs) | Deletion (frameshift variant +1 more) | Neurodevelopmental disorder with poor growth and skeletal anomalies | |
| | PCDHG@, PCDHGA1
+20 more (R415*) | Single nucleotide variant (nonsense +1 more) | Neurodevelopmental disorder with poor growth and skeletal anomalies | |
| | PCDHG@, PCDHGA1
+20 more (D483E) | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with poor growth and skeletal anomalies | |
| | PCDHG@, PCDHGA1
+20 more (A488V) | Single nucleotide variant (missense variant +1 more) | not provided | |
Click to view in NCBI Gene