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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMPD1
(K320I +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
APOB
(S4392N)
Single nucleotide variant
(missense variant)
Hypercholesterolemia, autosomal dominant, type B
+4 more
GConflicting classifications of pathogenicity