| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication | Nephronophthisis 14 | |
| | | Deletion | Townes syndrome +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene