"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95408	NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=)	SLC2A1	Single nucleotide variant (synonymous variant)	Encephalopathy due to GLUT1 deficiency +8 more	GBenign/Likely benign
Select item 95406	NM_006516.4(SLC2A1):c.1011C>T (p.His337=)	SLC2A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +7 more	GBenign
Select item 198543	NM_006516.4(SLC2A1):c.972+7del	SLC2A1	Deletion (intron variant)	GLUT1 deficiency syndrome +4 more	GConflicting classifications of pathogenicity
Select item 95418	NM_006516.4(SLC2A1):c.966C>T (p.Val322=)	SLC2A1	Single nucleotide variant (synonymous variant)	Encephalopathy due to GLUT1 deficiency +7 more	GBenign
Select item 95417	NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)	SLC2A1	Single nucleotide variant (synonymous variant)	Encephalopathy due to GLUT1 deficiency +5 more	GConflicting classifications of pathogenicity
Select item 1285138	NM_006516.4(SLC2A1):c.679+7G>A	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive	GLikely benign
Select item 139160	NM_006516.4(SLC2A1):c.679+4C>T	SLC2A1	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 828198	NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly)	SLC2A1 (C201G)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +7 more	GUncertain significance
Select item 95414	NM_006516.4(SLC2A1):c.588G>A (p.Pro196=)	SLC2A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +8 more	GBenign
Select item 139158	NM_006516.4(SLC2A1):c.507C>T (p.Leu169=)	SLC2A1	Single nucleotide variant (synonymous variant)	Encephalopathy due to GLUT1 deficiency +8 more	GBenign/Likely benign
Select item 95411	NM_006516.4(SLC2A1):c.399C>T (p.Cys133=)	SLC2A1	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign
Select item 139157	NM_006516.4(SLC2A1):c.276-7T>C	SLC2A1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 378604	NM_006516.4(SLC2A1):c.276-8G>A	SLC2A1	Single nucleotide variant (intron variant)	GLUT1 deficiency syndrome 1, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 95413	NM_006516.4(SLC2A1):c.45C>T (p.Ala15=)	SLC2A1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 139155	NM_006516.4(SLC2A1):c.27G>A (p.Thr9=)	SLC2A1	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 1174955	NM_006516.4(SLC2A1):c.18+5G>A	SLC2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign