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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COX15
(P291S)
Single nucleotide variant
(synonymous variant +2 more)
not specified
+1 more
GBenign/Likely benign
COX15
(I311M +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
COX15
Single nucleotide variant
(intron variant)
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
+2 more
GPathogenic/Likely pathogenic
COX15, LOC130004506
(G14A)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
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