| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Microscopic hematuria +3 more | |
| | | Deletion (inframe_deletion) | Autosomal recessive Alport syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microscopic hematuria +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Microscopic hematuria | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microscopic hematuria +2 more | |
Click to view in NCBI Gene