| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Porencephaly 2 | |
| | | Single nucleotide variant (missense variant) | Porencephaly 2 +1 more | |
| | COL4A2, COL4A2-AS1 (G1383R) | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene