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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP63
(R11* +1 more)
Single nucleotide variant
(nonsense +3 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
CEP63
(V234F +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CEP63
(T302S +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
CEP63
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
GUncertain significance
CEP63
(G325R)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CEP63
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
CEP63
Deletion
(frameshift variant +2 more)
not provided
GUncertain significance
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