Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Gonadal tissue inappropriate for external genitalia or chromosomal sex +2 more | |
| | | Single nucleotide variant | Mitochondrial disease +4 more | |
| | | Single nucleotide variant | Leigh syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Ovarian dysgenesis 1 +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene