C3553859[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1304066	NM_006516.4(SLC2A1):c.1192G>A (p.Gly398Ser)	SLC2A1 (G398S)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 198843	NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)	SLC2A1 (I339T)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +8 more	GConflicting classifications of pathogenicity
Select item 198844	NM_006516.4(SLC2A1):c.1006C>G (p.Leu336Val)	SLC2A1 (L336V)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 520805	NM_006516.4(SLC2A1):c.1001G>A (p.Arg334Gln)	SLC2A1 (R334Q)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +7 more	GUncertain significance
Select item 842670	NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln)	SLC2A1 (R223Q)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +7 more	GUncertain significance
Select item 663015	NM_006516.4(SLC2A1):c.73C>A (p.Gln25Lys)	SLC2A1 (Q25K)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +8 more	GUncertain significance

ClinVar