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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COQ8A
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
COQ8A
(V23M)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
COQ8A
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
COQ8A
(G74S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COQ8A
(H85Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
COQ8A
(V120M)
Single nucleotide variant
(missense variant)
Autosomal recessive cerebellar ataxia
+2 more
GConflicting classifications of pathogenicity
COQ8A
(R204W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8A
(R265H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
COQ8A
(R271C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
COQ8A
(Y330C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
COQ8A
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
COQ8A
(A337T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8A
(R348*)
Single nucleotide variant
(nonsense)
Autosomal recessive ataxia due to ubiquinone deficiency
+1 more
GPathogenic
COQ8A
Single nucleotide variant
(synonymous variant)
Autosomal recessive ataxia due to ubiquinone deficiency
+3 more
GBenign/Likely benign
COQ8A
(M376I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8A
Single nucleotide variant
(synonymous variant)
Autosomal recessive ataxia due to ubiquinone deficiency
+2 more
GBenign/Likely benign
COQ8A
(Y429C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
COQ8A
(T445K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COQ8A
(S460G)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
COQ8A
Single nucleotide variant
(synonymous variant)
Autosomal recessive ataxia due to ubiquinone deficiency
+2 more
GBenign
COQ8A
(F482I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8A
Single nucleotide variant
(intron variant)
Autosomal recessive ataxia due to ubiquinone deficiency
+2 more
GBenign
COQ8A
(D557E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8A
Single nucleotide variant
(synonymous variant)
Autosomal recessive cerebellar ataxia
+2 more
GBenign
COQ8A
(R611G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8A
(Q646K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COQ8A
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
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