C4478379[trait identifier] AND "Daan van Aalten Lab, University of Dun - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 804282	NM_181672.3(OGT):c.762G>C (p.Leu254Phe)	OGT (L244F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106	GPathogenic
Select item 208705	NM_181672.3(OGT):c.775G>A (p.Ala259Thr)	OGT (A249T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 428571	NM_181672.3(OGT):c.851G>C (p.Arg284Pro)	OGT (R284P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106	GPathogenic
Select item 804283	NM_181672.3(OGT):c.955G>A (p.Ala319Thr)	OGT (A309T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106	GUncertain significance
Select item 804284	NM_181672.3(OGT):c.1016A>G (p.Glu339Gly)	OGT (E329G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106	GPathogenic
Select item 691611	NM_181672.3(OGT):c.1942A>T (p.Asn648Tyr)	OGT (N638Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 106	GPathogenic

ClinVar