| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Alagille syndrome due to a NOTCH2 point mutation +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Duplication (frameshift variant) | PAX2-related condition +3 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant) | Congenital anomalies of kidney and urinary tract 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 11 | |
| | | Single nucleotide variant (missense variant) | Renal cysts and diabetes syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Renal hypodysplasia/aplasia 3 | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Congenital anomaly of kidney and urinary tract +4 more | GConflicting classifications of pathogenicity |
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