"GeneDx"[submitter] AND "SLC2A1-DT"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152832	GRCh38/hg38 1p34.2(chr1:42653385-43093829)x1	C1orf50, CCDC30 +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 297393	NM_006516.2(SLC2A1):c.-424C>G	SLC2A1, SLC2A1-DT	Single nucleotide variant (non-coding transcript variant)	GLUT1 deficiency syndrome +2 more	GConflicting classifications of pathogenicity
Select item 297395	NM_006516.2(SLC2A1):c.-490G>C	SLC2A1, SLC2A1-DT	Single nucleotide variant (non-coding transcript variant)	Encephalopathy due to GLUT1 deficiency +7 more	GBenign
Select item 670881	NM_006516.2(SLC2A1):c.-555T>A	SLC2A1, SLC2A1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 668835	NM_006516.2(SLC2A1):c.-760C>A	SLC2A1, SLC2A1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1193681	NC_000001.11:g.42959444C>G	SLC2A1, SLC2A1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign

ClinVar