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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDC42BPA, COQ8A
+3 more
Deletion
Autosomal recessive ataxia due to ubiquinone deficiency
GPathogenic
COQ8A
(R213W)
Single nucleotide variant
(missense variant)
Autosomal recessive ataxia due to ubiquinone deficiency
GLikely pathogenic
COQ8A
(R271C)
Single nucleotide variant
(missense variant)
See cases
+2 more
GPathogenic/Likely pathogenic
COQ8A
(G272D)
Single nucleotide variant
(missense variant)
Autosomal recessive ataxia due to ubiquinone deficiency
GPathogenic
COQ8A
(G272V)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
COQ8A
(R299W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
COQ8A
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
COQ8A
(R348*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
COQ8A
Duplication
(splice acceptor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COQ8A
(L379*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
COQ8A
Single nucleotide variant
(splice donor variant)
Autosomal recessive ataxia due to ubiquinone deficiency
GPathogenic
COQ8A
(F508S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
COQ8A
(Y514C)
Single nucleotide variant
(missense variant)
Autosomal recessive ataxia due to ubiquinone deficiency
GPathogenic
COQ8A
(G549S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COQ8A
(E551K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
COQ8A
(T584del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GPathogenic/Likely pathogenic
COQ8A
(E605fs)
Duplication
(frameshift variant)
Autosomal recessive ataxia due to ubiquinone deficiency
GPathogenic
COQ8A
(S616fs)
Duplication
(frameshift variant)
ADCK3-Related Disorders
+2 more
GConflicting classifications of pathogenicity
COQ8A
(G615D)
Single nucleotide variant
(missense variant)
Autosomal recessive ataxia due to ubiquinone deficiency
GPathogenic
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