| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant hypocalcemia 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Brachycephaly +4 more | |
| | | Single nucleotide variant (missense variant) | Choreoathetosis +4 more | |
| | LOC125467768, PCDH19 (R740C +1 more) | Single nucleotide variant (missense variant) | Choreoathetosis +5 more | |
| | | Deletion (intron variant) | Autism +14 more | |
Click to view in NCBI Gene