| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Vissers-Bodmer syndrome | |
| | | Duplication (inframe_insertion +1 more) | Holoprosencephaly 12 with or without pancreatic agenesis +1 more | |
Click to view in NCBI Gene