| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (nonsense) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | |
Click to view in NCBI Gene