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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
LDLR
(S286R +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GLikely pathogenicFDA Recognized
database
LDLR
(G549D +3 more)
Single nucleotide variant
(missense variant)
Familial hypercholesterolemia
+3 more
GPathogenic/Likely pathogenic
LDLR
(C681* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+5 more
GPathogenic/Likely pathogenic
LDLR
(V827I +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significanceFDA Recognized
database
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