ClinVar for MedGen (Select 337833) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1699355	NM_006516.4(SLC2A1):c.728A>T (p.Glu243Val)	SLC2A1 (E243V)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome	GLikely pathogenic
Select item 627587	NM_006516.4(SLC2A1):c.388G>A (p.Gly130Ser)	SLC2A1 (G130S)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome +3 more	GPathogenic
Select item 488790	NM_006516.4(SLC2A1):c.2T>C (p.Met1Thr)	SLC2A1 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 436754	NM_006516.4(SLC2A1):c.49G>T (p.Gly17Ter)	SLC2A1 (G17*)	Single nucleotide variant (nonsense)	GLUT1 deficiency syndrome	GPathogenic
Select item 297396	NM_006516.2(SLC2A1):c.-510G>C	SLC2A1, SLC2A1-DT	Single nucleotide variant (non-coding transcript variant)	GLUT1 deficiency syndrome +1 more	GUncertain significance
Select item 297395	NM_006516.2(SLC2A1):c.-490G>C	SLC2A1, SLC2A1-DT	Single nucleotide variant (non-coding transcript variant)	Childhood onset GLUT1 deficiency syndrome 2 +7 more	GBenign
Select item 297394	NM_006516.2(SLC2A1):c.-483G>T	SLC2A1, SLC2A1-DT	Single nucleotide variant (non-coding transcript variant)	GLUT1 deficiency syndrome +1 more	GUncertain significance
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 297392	NM_006516.2(SLC2A1):c.-390delA	SLC2A1	Deletion	Encephalopathy due to GLUT1 deficiency +7 more	GBenign
Select item 297391	NM_006516.2(SLC2A1):c.-388G>T	SLC2A1	Single nucleotide variant	GLUT1 deficiency syndrome +1 more	GUncertain significance
Select item 297390	NM_006516.2(SLC2A1):c.-384G>A	SLC2A1	Single nucleotide variant	GLUT1 deficiency syndrome +1 more	GUncertain significance
Select item 297389	NM_006516.2(SLC2A1):c.-368A>C	SLC2A1	Single nucleotide variant	GLUT1 deficiency syndrome +1 more	GUncertain significance
Select item 297388	NM_006516.2(SLC2A1):c.-272G>A	SLC2A1	Single nucleotide variant	GLUT1 deficiency syndrome +1 more	GUncertain significance
Select item 297387	NM_006516.2(SLC2A1):c.-242C>T	SLC2A1	Single nucleotide variant	GLUT1 deficiency syndrome +1 more	GLikely benign
Select item 297386	NM_006516.2(SLC2A1):c.-225T>G	SLC2A1	Single nucleotide variant	GLUT1 deficiency syndrome +1 more	GUncertain significance
Select item 297376	NM_006516.4(SLC2A1):c.*322T>G	SLC2A1	Single nucleotide variant (3 prime UTR variant)	Dystonic disorder +1 more	GUncertain significance
Select item 207229	NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met)	SLC2A1 (T295M)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 198842	NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)	SLC2A1 (R333W)	Single nucleotide variant (missense variant)	Dystonia 9 +8 more	GPathogenic/Likely pathogenic
Select item 198543	NM_006516.4(SLC2A1):c.972+7del	SLC2A1	Deletion (intron variant)	Dystonic disorder +4 more	GConflicting classifications of pathogenicity