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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CREB3L3
(K243fs +2 more)
Duplication
(frameshift variant +1 more)
Hypertriglyceridemia 2
+1 more
GConflicting classifications of pathogenicity
APOA5
(D332fs)
Microsatellite
(frameshift variant)
Familial type 5 hyperlipoproteinemia
+3 more
GPathogenic/Likely pathogenic
CREB3L3
(E238K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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