| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hereditary cryohydrocytosis with reduced stomatin +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Epilepsy, idiopathic generalized, susceptibility to, 12 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dystonia 9 +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Childhood onset GLUT1 deficiency syndrome 2 +5 more | |
| | | Single nucleotide variant (intron variant) | not specified +6 more | |
| | | Single nucleotide variant (intron variant) | GLUT1 deficiency syndrome 1, autosomal recessive +6 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cryohydrocytosis with reduced stomatin +6 more | |
| | | Single nucleotide variant (intron variant) | Hereditary cryohydrocytosis with reduced stomatin +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dystonia 9 +6 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cryohydrocytosis with reduced stomatin +6 more | |
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