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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCSK9
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
+1 more
GPathogenic/Likely pathogenic
PCSK9
(R151H +3 more)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+3 more
GConflicting classifications of pathogenicity
PCSK9
(D249Y +4 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
+1 more
GPathogenic/Likely pathogenic
PCSK9
(R496W +6 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
APOB
(R3558C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
APOB
(R3527Q)
Single nucleotide variant
(missense variant)
Homozygous familial hypercholesterolemia
+10 more
GPathogenic/Likely pathogenic
APOB
(R3527W)
Single nucleotide variant
(missense variant)
APOB-related disorder
+8 more
GPathogenic/Likely pathogenic
LDLR
Deletion
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
Deletion
Hypercholesterolemia, familial, 1
GPathogenic
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