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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCSK9
(L108R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
PCSK9
(D249Y +4 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, 3
+3 more
GPathogenic/Likely pathogenic
PCSK9
(S465L +6 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PCSK9
(E482G +6 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, 3
+4 more
GConflicting classifications of pathogenicity
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