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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PNLIP
(N229S)
Single nucleotide variant
(missense variant)
Pancreatic triacylglycerol lipase deficiency
GUncertain significance
PNLIP
Single nucleotide variant
(synonymous variant)
Pancreatic triacylglycerol lipase deficiency
+1 more
GBenign
PNLIP
(W419*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
PNLIP
(T221M)
Single nucleotide variant
(missense variant)
Pancreatic triacylglycerol lipase deficiency
GPathogenic
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