| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Hypogonadotropic hypogonadism 2 with or without anosmia +5 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (intron variant) | See cases +1 more | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | See cases +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene