| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | COL4A2, COL4A2-AS1 (R1295Q) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | COL4A2, COL4A2-AS1 (T1403K) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | COL4A2, COL4A2-AS1 (P1413fs) | Deletion (frameshift variant) | Porencephaly 2 | |
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