"Clinical Genetics, Academic Medical Center"[submitter] AND "SLC2A1"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95407	NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=)	SLC2A1	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign
Select item 95406	NM_006516.4(SLC2A1):c.1011C>T (p.His337=)	SLC2A1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 198543	NM_006516.4(SLC2A1):c.972+7del	SLC2A1	Deletion (intron variant)	Dystonic disorder +4 more	GConflicting classifications of pathogenicity
Select item 95418	NM_006516.4(SLC2A1):c.966C>T (p.Val322=)	SLC2A1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 12 +7 more	GBenign
Select item 95416	NM_006516.4(SLC2A1):c.679+7G>C	SLC2A1	Single nucleotide variant (intron variant)	Encephalopathy due to GLUT1 deficiency +7 more	GBenign
Select item 95414	NM_006516.4(SLC2A1):c.588G>A (p.Pro196=)	SLC2A1	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign
Select item 95411	NM_006516.4(SLC2A1):c.399C>T (p.Cys133=)	SLC2A1	Single nucleotide variant (synonymous variant)	Epilepsy, idiopathic generalized, susceptibility to, 12 +8 more	GBenign
Select item 95413	NM_006516.4(SLC2A1):c.45C>T (p.Ala15=)	SLC2A1	Single nucleotide variant (synonymous variant)	Dystonia 9 +7 more	GBenign

ClinVar