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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPIHBP1
(W141*)
Single nucleotide variant
(nonsense +1 more)
Hyperlipoproteinemia, type 1D
GLikely pathogenic
GPIHBP1
(G175R)
Single nucleotide variant
(missense variant +1 more)
GPIHBP1-related disorder
+3 more
GConflicting classifications of pathogenicity
GPIHBP1
Single nucleotide variant
(splice donor variant)
Hyperlipoproteinemia, type 1D
GPathogenic
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