| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Gorlin syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | Holoprosencephaly 7 +3 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +3 more | |
Click to view in NCBI Gene