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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIGQ
(A109T)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 77
+1 more
GConflicting classifications of pathogenicity
PIGQ
(R177H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 77
+1 more
GConflicting classifications of pathogenicity