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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LDLR
(E31K)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
+2 more
GConflicting classifications of pathogenicity
LDLR
(D266E +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypercholesterolemia, familial, 1
GPathogenic
LDLR
(D360H +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
+3 more
GConflicting classifications of pathogenicity
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