| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dystonia 9 +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | GLUT1 deficiency syndrome +3 more | |
| | | Indel (missense variant) | Hereditary cryohydrocytosis with reduced stomatin +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | GLUT1 deficiency syndrome 1, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene