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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LDLRAP1
Single nucleotide variant
(splice acceptor variant)
Hypercholesterolemia, familial, 4
+1 more
GPathogenic/Likely pathogenic
PCSK9
(R496W +6 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
LDLR
(R191H)
Single nucleotide variant
(missense variant +2 more)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
(C167* +1 more)
Single nucleotide variant
(nonsense +1 more)
Cardiovascular phenotype
+4 more
GPathogenic/Likely pathogenic
LDLR
(D266E +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
Single nucleotide variant
(splice donor variant)
Homozygous familial hypercholesterolemia
+5 more
GPathogenic/Likely pathogenic
LDLR, MIR6886
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
(G592E +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
(C681* +2 more)
Single nucleotide variant
(intron variant +1 more)
Homozygous familial hypercholesterolemia
+5 more
GPathogenic/Likely pathogenic
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