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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIGU
(Y415*)
Single nucleotide variant
(nonsense)
Glycosylphosphatidylinositol biosynthesis defect 21
GUncertain significance
PIGU
(F260L)
Single nucleotide variant
(missense variant)
Glycosylphosphatidylinositol biosynthesis defect 21
GUncertain significance
PIGU
Single nucleotide variant
(intron variant)
Glycosylphosphatidylinositol biosynthesis defect 21
GUncertain significance
PIGU
(E429fs)
Deletion
(frameshift variant)
Glycosylphosphatidylinositol biosynthesis defect 21
GLikely pathogenic
PIGU
Single nucleotide variant
(intron variant)
Glycosylphosphatidylinositol biosynthesis defect 21
GBenign
PIGU
Single nucleotide variant
(intron variant)
Glycosylphosphatidylinositol biosynthesis defect 21
GUncertain significance
PIGU
(N383K)
Single nucleotide variant
(missense variant)
Glycosylphosphatidylinositol biosynthesis defect 21
GPathogenic
PIGU
(I70K)
Single nucleotide variant
(missense variant)
Glycosylphosphatidylinositol biosynthesis defect 21
GPathogenic
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