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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIGG
(R735Q +7 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal recessive 53
+3 more
GLikely benign
PIGG
(W505* +6 more)
Single nucleotide variant
(nonsense +3 more)
Intellectual disability, autosomal recessive 53
+3 more
GConflicting classifications of pathogenicity