| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | Cranioectodermal dysplasia 1 +2 more | |
| | IFT122, LOC126806810 (A611V +6 more) | Single nucleotide variant (missense variant) | Cranioectodermal dysplasia 1 | |
Click to view in NCBI Gene