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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APOB
(K1043*)
Single nucleotide variant
(nonsense)
Familial hypobetalipoproteinemia 1
GLikely pathogenic
APOB
Single nucleotide variant
(splice donor variant)
Familial hypobetalipoproteinemia 1
GPathogenic