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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCG2, ABRAXAS1
+338 more
Copy number loss
Chromosome 4q21 deletion syndrome
GPathogenic
COQ2
(N228S +1 more)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
+2 more
GConflicting classifications of pathogenicity
COQ2, LOC112997540
Single nucleotide variant
(intron variant)
Coenzyme Q10 deficiency, primary, 1
GUncertain significance
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