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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APOB
(R3527W)
Single nucleotide variant
(missense variant)
not provided
+7 more
GPathogenic/Likely pathogenic
LDLR
(W87G)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GPathogenic