| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Hyperinsulinism-hyperammonemia syndrome | |
| | GLUD1, LOC130004255
+1 more (A18V) | Single nucleotide variant (5 prime UTR variant +1 more) | Hyperinsulinism-hyperammonemia syndrome | |
Click to view in NCBI Gene