| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | PCDHA1, PCDHA10 +15 more (D571E +10 more) | Single nucleotide variant (missense variant) | not provided | |
| | PCDHA1, PCDHA10 +15 more (P576R +10 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Deletion | Familial adenomatous polyposis 1 +1 more | |
Click to view in NCBI Gene