| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive Alport syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | COL4A3-related disorder +7 more | |
Click to view in NCBI Gene