| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | CHARGE syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Hypogonadotropic hypogonadism 5 with or without anosmia +4 more | |
Click to view in NCBI Gene