| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | COL4A2, COL4A2-AS2 (R471H) | Single nucleotide variant (missense variant) | Porencephaly 2 | |
| | COL4A2, COL4A2-AS2 (G506D) | Single nucleotide variant (missense variant) | Porencephaly 2 | |
| | | Single nucleotide variant (intron variant) | Vasculitis | |
Click to view in NCBI Gene