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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIGS
(E308G)
Single nucleotide variant
(missense variant)
Glycosylphosphatidylinositol biosynthesis defect 18
GLikely pathogenic
PIGS
(W36*)
Single nucleotide variant
(nonsense)
Glycosylphosphatidylinositol biosynthesis defect 18
GLikely pathogenic
PIGS
(L34P)
Single nucleotide variant
(missense variant)
Glycosylphosphatidylinositol biosynthesis defect 18
GLikely pathogenic
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