| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861504, SLC2A13 (R283H) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861504, SLC2A13 (L259F) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861504, SLC2A13 (A249G) | Single nucleotide variant (missense variant) | not specified | |
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