| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | X-linked Alport syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked Alport syndrome | |
| | | Single nucleotide variant (missense variant) | Hearing impairment +2 more | |
| | | Single nucleotide variant (missense variant) | X-linked Alport syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | X-linked Alport syndrome | |
| | | Single nucleotide variant (missense variant) | Microscopic hematuria +1 more | |
| | | Deletion | Hematuria +3 more | |
| | | Single nucleotide variant (missense variant) | X-linked Alport syndrome | |
| | | Single nucleotide variant (missense variant) | COL4A5-related disorder +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | X-linked Alport syndrome | |
| | | Single nucleotide variant (missense variant) | X-linked Alport syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mild proteinuria +2 more | |
| | | Single nucleotide variant (synonymous variant) | X-linked Alport syndrome | |
| | | Single nucleotide variant (missense variant) | Chronic kidney disease +2 more | |
| | | Duplication (frameshift variant) | Proteinuria +1 more | |
Click to view in NCBI Gene