Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Diabetes insipidus +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephaly +6 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Diabetes insipidus +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene