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