| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 25 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 25 | |
| | | Single nucleotide variant (missense variant) | SLC13A5-related condition +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Developmental and epileptic encephalopathy, 25 | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 25 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 25 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 25 +1 more | GPathogenic/Likely pathogenic |
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