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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GDI1
(K112R)
Single nucleotide variant
(missense variant)
Intellectual disability, X-linked 41
GUncertain significance
GDI1
(G263fs)
Deletion
(frameshift variant)
Intellectual disability, X-linked 41
GLikely pathogenic
GDI1
Insertion
(nonsense)
Intellectual disability, X-linked 41
+1 more
GPathogenic
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