| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene