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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LDLR
(S286R +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GLikely pathogenic
LDLR
(G549D +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
LDLR
(V827I +3 more)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, familial, 1
GUncertain significance
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