| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, dominant type 4 +3 more | |
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