| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive Alport syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant Alport syndrome +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene