| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive Alport syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal dominant Alport syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive Alport syndrome | |
| | | Single nucleotide variant (synonymous variant) | Alport syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Chronic kidney disease +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Alport syndrome | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive Alport syndrome | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Alport syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | Specific language impairment 5 | |
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