| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | |
| | | Single nucleotide variant (missense variant) | Brain small vessel disease 1 with or without ocular anomalies | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene