| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Nephronophthisis 12 | |
| | TTC21B, TTC21B-AS1 (K166fs) | Deletion (frameshift variant) | Nephronophthisis 12 | |
| | TTC21B, TTC21B-AS1 (A127V) | Single nucleotide variant (missense variant) | Nephronophthisis 12 | |
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