| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hypogonadotropic hypogonadism 5 with or without anosmia +4 more | |
| | | Single nucleotide variant (missense variant) | CHARGE syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant +1 more) | CHARGE syndrome +1 more | |
Click to view in NCBI Gene