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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C1orf105, PIGC
(L212P)
Single nucleotide variant
(missense variant +1 more)
Glycosylphosphatidylinositol biosynthesis defect 16
GLikely pathogenic
C1orf105, PIGC
(L189W)
Single nucleotide variant
(missense variant +1 more)
Glycosylphosphatidylinositol biosynthesis defect 16
GLikely pathogenic
C1orf105, PIGC
(R21*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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