Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | ANOS1-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Failure to thrive +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Obesity +9 more | |
| | | | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Inversion | Short palpebral fissure +9 more | |
| | | Inversion | Hypotonia +22 more | |
| | | Single nucleotide variant (missense variant) | SRD5A2-related condition +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Micropenis | |
Click to view in NCBI Gene