| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
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