| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Infantile nephronophthisis +4 more | GPathogenic/Likely pathogenic |
| | TTC21B-AS1, TTC21B (P209L) | Single nucleotide variant (missense variant) | Nephronophthisis 12 +7 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene