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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COQ2
(R197H +1 more)
Single nucleotide variant
(missense variant)
Multiple system atrophy 1, susceptibility to
+2 more
GPathogenic/Likely pathogenic
COQ2
(S146N +1 more)
Single nucleotide variant
(missense variant)
Multiple system atrophy 1, susceptibility to
+1 more
GPathogenic
COQ2, LOC112997540
(Y74N +1 more)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
GLikely pathogenic
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