| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | See cases +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more | |
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