| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +2 more) | Disorder of sexual differentiation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Disorder of sexual differentiation | |
| | | Single nucleotide variant (missense variant +1 more) | Frasier syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Nephrotic syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Drash syndrome +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene