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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COX15, LOC130004506
(R28T)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
COX15, LOC130004506
(A25S)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
COX15, LOC130004506
(Y17C)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
COX15, LOC130004506
(Q2R)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
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