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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APOA5
(Q97*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+4 more
GPathogenic
APOA5, LOC108491825
(R40fs)
Deletion
(frameshift variant)
Familial type 5 hyperlipoproteinemia
GLikely pathogenic