| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | |
| | | Single nucleotide variant (intron variant) | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | |
| | | Indel (intron variant) | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +14 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +15 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | |
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