| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive Alport syndrome | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant Alport syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | Autosomal dominant Alport syndrome | |
| | | Single nucleotide variant (missense variant) | COL4A3-related condition +7 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene