Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cerebral edema +1 more | |
| | | Single nucleotide variant (missense variant) | Cerebral edema | |
| | | Single nucleotide variant (synonymous variant +1 more) | Diabetes mellitus, permanent neonatal 3 +7 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene