"GeneReviews"[submitter] AND "SLC2A1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16120	NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp)	SLC2A1 (R468W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 198842	NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)	SLC2A1 (R333W)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +8 more	GPathogenic/Likely pathogenic
Select item 207229	NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met)	SLC2A1 (T295M)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +3 more	GPathogenic
Select item 16108	NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val)	SLC2A1 (K256V)	Indel (missense variant)	Encephalopathy due to GLUT1 deficiency +6 more	GUncertain significance
Select item 16111	NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)	SLC2A1 (R126H)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +3 more	GPathogenic/Likely pathogenic
Select item 16109	NM_006516.4(SLC2A1):c.377G>T (p.Arg126Leu)	SLC2A1 (R126L)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GPathogenic
Select item 16118	NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)	SLC2A1 (R126C)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +4 more	GPathogenic/Likely pathogenic

ClinVar