| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Epilepsy, idiopathic generalized, susceptibility to, 12 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | GLUT1 deficiency syndrome 1, autosomal recessive +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | GLUT1 deficiency syndrome 1, autosomal recessive +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Dystonia 9 +4 more | |
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