| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hartsfield-Bixler-Demyer syndrome | |
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 2 with or without anosmia | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Hartsfield-Bixler-Demyer syndrome | |
Click to view in NCBI Gene