| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal dominant Alport syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Benign familial hematuria +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal dominant Alport syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive Alport syndrome +1 more | |
| | | Deletion (frameshift variant) | Autosomal recessive Alport syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Alport syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Benign familial hematuria +1 more | |
Click to view in NCBI Gene