| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Brain small vessel disease 1 with or without ocular anomalies +1 more | |
| | | Single nucleotide variant (missense variant) | COL4A1-related condition +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene