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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LDLR
(D256E +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial hypercholesterolemia
+1 more
GConflicting classifications of pathogenicity
LDLR
(D256E +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GLikely pathogenic