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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Cardiovascular phenotype
+2 more
GPathogenic/Likely pathogenic
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Familial hypercholesterolemia
+3 more
GConflicting classifications of pathogenicity
LDLR, LDLR-AS1
Single nucleotide variant
(non-coding transcript variant)
Familial hypercholesterolemia
+1 more
GConflicting classifications of pathogenicity
LDLR, LDLR-AS1
(G20R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypercholesterolemia, familial, 1
GBenign
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