| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Van den Ende-Gupta syndrome | |
| | | Duplication (frameshift variant +1 more) | Van den Ende-Gupta syndrome | |
Click to view in NCBI Gene