| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | |
| | | Single nucleotide variant (missense variant) | Brain small vessel disease 1 with or without ocular anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | Brain small vessel disease 1 with or without ocular anomalies | |
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