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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COQ2
(N401fs +1 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
COQ2
(R387*)
Single nucleotide variant
(nonsense)
Multiple system atrophy
Grisk factor
COQ2
(A302V +1 more)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency
Gnot provided
COQ2
(Y297C +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
COQ2
(N228S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
COQ2
(R197H +1 more)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
+2 more
GPathogenic/Likely pathogenic
COQ2
(M182R +1 more)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency
Gnot provided
COQ2
(S146N +1 more)
Single nucleotide variant
(missense variant)
Coenzyme Q10 deficiency, primary, 1
+1 more
GPathogenic
COQ2, LOC112997540
(M128V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
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