| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130067862, SCO2
+1 more (A465T +1 more) | Single nucleotide variant (missense variant +1 more) | Fatal Infantile Cardioencephalomyopathy +3 more | |
| | LOC130067862, SCO2
+1 more (W437fs +1 more) | Duplication (frameshift variant +1 more) | Mitochondrial DNA depletion syndrome 1 | |
| | TYMP, LOC130067862
+1 more | Single nucleotide variant (intron variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Mitochondrial DNA depletion syndrome 1 +2 more | |
| | LOC130067862, SCO2
+1 more | Microsatellite (intron variant) | Mitochondrial DNA depletion syndrome 1 +4 more | |
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