| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant +5 more | |
| | COL4A1, LOC126861856 (E456K) | Single nucleotide variant (missense variant) | Microangiopathy and leukoencephalopathy, pontine, autosomal dominant +5 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | not provided +5 more | |
Click to view in NCBI Gene