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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LPL
(H163Y)
Single nucleotide variant
(missense variant)
Hyperlipoproteinemia, type I
GUncertain significance
LPL
(L279V)
Single nucleotide variant
(missense variant)
Hyperlipidemia, familial combined, LPL related
+3 more
GPathogenic
LPL
(K331E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
LPL
(R333H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LPL
(Y338*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
LPL
(K406*)
Single nucleotide variant
(nonsense)
Hyperlipidemia, familial combined, LPL related
+1 more
GConflicting classifications of pathogenicity
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