| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Shukla-Vernon syndrome | |
| | | Single nucleotide variant (missense variant) | Shukla-Vernon syndrome | |
| | | Single nucleotide variant (nonsense) | Shukla-Vernon syndrome | |
| | | Single nucleotide variant (missense variant) | Shukla-Vernon syndrome | |
| | | Single nucleotide variant (missense variant) | Shukla-Vernon syndrome +1 more | |
Click to view in NCBI Gene