| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Alport syndrome | |
| | | Deletion (inframe_deletion) | Autosomal dominant Alport syndrome +1 more | |
Click to view in NCBI Gene