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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LDLR
(P309fs +3 more)
Deletion
(frameshift variant)
Hypercholesterolemia, familial, 1
+1 more
GPathogenic
L1CAM
(V752M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic