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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LDLR
(C27W)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
(F282L +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GLikely pathogenic
LDLR
(V523M +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
LDLR
(R574H +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GLikely pathogenic
LDLR
(R595W +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GPathogenic
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