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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LDLR
(R191S)
Indel
(missense variant +2 more)
Hypercholesterolemia, familial, 1
GLikely pathogenic
LDLR
Deletion
(inframe_deletion)
not provided
GLikely pathogenic