"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SLC2A1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683710	NM_006516.4(SLC2A1):c.1338C>T (p.Ile446=)	SLC2A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 1485661	NM_006516.4(SLC2A1):c.1053G>A (p.Met351Ile)	SLC2A1 (M351I)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +1 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 207199	NM_006516.4(SLC2A1):c.895G>A (p.Glu299Lys)	SLC2A1 (E299K)	Single nucleotide variant (missense variant)	GLUT1 deficiency syndrome 1, autosomal recessive +4 more	GConflicting classifications of pathogenicity
Select item 207229	NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met)	SLC2A1 (T295M)	Single nucleotide variant (missense variant)	Encephalopathy due to GLUT1 deficiency +3 more	GPathogenic
Select item 16112	NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del)	SLC2A1	Deletion (inframe_deletion)	GLUT1 deficiency syndrome 1, autosomal recessive +2 more	GPathogenic/Likely pathogenic
Select item 649952	NM_006516.4(SLC2A1):c.799G>A (p.Ala267Thr)	SLC2A1 (A267T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2683711	NM_006516.4(SLC2A1):c.794C>T (p.Ser265Phe)	SLC2A1 (S265F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 159929	NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr)	SLC2A1 (K255T)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 159927	NM_006516.4(SLC2A1):c.746G>A (p.Arg249Gln)	SLC2A1 (R249Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 3379601	NM_006516.4(SLC2A1):c.297G>C (p.Met99Ile)	SLC2A1 (M99I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 406881	NM_006516.4(SLC2A1):c.179C>T (p.Thr60Met)	SLC2A1 (T60M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1633613	NM_006516.4(SLC2A1):c.114+18G>A	SLC2A1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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
Select item 1162841	NM_006516.2(SLC2A1):c.-388G>C	SLC2A1	Single nucleotide variant	not provided	GUncertain significance
Select item 1120159	Single allele	SLC2A1	Deletion	not provided	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20