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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862856, LDLR
+2 more
Deletion
Hypercholesterolemia, familial, 1
GPathogenic
LDLR, LDLR-AS1
+2 more
Deletion
Hypercholesterolemia, familial, 1
GConflicting classifications of pathogenicity
LOC126862856, LDLR
+2 more
Deletion
Hypercholesterolemia, familial, 1
GPathogenic
LDLR, LOC126862855
Single nucleotide variant
(intron variant)
Familial hypercholesterolemia
+1 more
GBenign
LDLR, MIR6886
+3 more
Deletion
Hypercholesterolemia, familial, 1
GPathogenic
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