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Items: 56

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC2A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC2A1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+8 more
GBenign/Likely benign
SLC2A1
Single nucleotide variant
(synonymous variant)
Hereditary cryohydrocytosis with reduced stomatin
+8 more
GBenign
SLC2A1
(Y432*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
SLC2A1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+8 more
GBenign/Likely benign
SLC2A1
(V391M)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+7 more
GUncertain significance
SLC2A1
Single nucleotide variant
(synonymous variant)
Hereditary cryohydrocytosis with reduced stomatin
+7 more
GBenign
SLC2A1
Single nucleotide variant
(synonymous variant)
not specified
+8 more
GBenign
SLC2A1
(A345V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
SLC2A1
(I339T)
Single nucleotide variant
(missense variant)
Dystonia 9
+8 more
GConflicting classifications of pathogenicity
SLC2A1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+7 more
GBenign
SLC2A1
(L336V)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
SLC2A1
(R333W)
Single nucleotide variant
(missense variant)
Dystonia 9
+8 more
GPathogenic/Likely pathogenic
SLC2A1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
SLC2A1
(V327fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
SLC2A1
Single nucleotide variant
(intron variant)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GBenign
SLC2A1
Deletion
(intron variant)
GLUT1 deficiency syndrome
+4 more
GConflicting classifications of pathogenicity
SLC2A1
(S324fs)
Deletion
(frameshift variant)
not provided
GPathogenic
SLC2A1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+7 more
GBenign
SLC2A1
(G314S)
Single nucleotide variant
(missense variant)
Dystonia 9
+3 more
GPathogenic
SLC2A1
(S313Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC2A1
(V303fs)
Duplication
(frameshift variant)
not provided
GPathogenic
SLC2A1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SLC2A1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SLC2A1
(R264C)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+7 more
GUncertain significance
SLC2A1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
SLC2A1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+8 more
GLikely benign
SLC2A1
Single nucleotide variant
(intron variant)
not provided
+3 more
GPathogenic
SLC2A1
Single nucleotide variant
(intron variant)
Epilepsy, idiopathic generalized, susceptibility to, 12
+6 more
GBenign
SLC2A1
Single nucleotide variant
(intron variant)
Hereditary cryohydrocytosis with reduced stomatin
+7 more
GBenign
SLC2A1
Single nucleotide variant
(intron variant)
SLC2A1-related condition
+4 more
GConflicting classifications of pathogenicity
SLC2A1
(R218C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC2A1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+8 more
GBenign
SLC2A1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SLC2A1
Single nucleotide variant
(synonymous variant)
Hereditary cryohydrocytosis with reduced stomatin
+8 more
GBenign/Likely benign
SLC2A1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SLC2A1
(R153H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC2A1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+8 more
GBenign
SLC2A1
Single nucleotide variant
(synonymous variant)
Hereditary cryohydrocytosis with reduced stomatin
+8 more
GBenign
SLC2A1
(R126H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
SLC2A1
(R126C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
SLC2A1
(V108M)
Single nucleotide variant
(missense variant)
GLUT1 deficiency syndrome 1, autosomal recessive
+6 more
GConflicting classifications of pathogenicity
SLC2A1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SLC2A1
(F104L)
Single nucleotide variant
(missense variant)
SLC2A1-related condition
+9 more
GBenign/Likely benign
SLC2A1
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SLC2A1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
SLC2A1
Single nucleotide variant
(synonymous variant)
Encephalopathy due to GLUT1 deficiency
+7 more
GConflicting classifications of pathogenicity
SLC2A1
(T60M)
Single nucleotide variant
(missense variant)
GLUT1 deficiency syndrome 1, autosomal recessive
+2 more
GConflicting classifications of pathogenicity
SLC2A1
(S55T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC2A1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SLC2A1
(G27D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC2A1
(G17R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely pathogenic
SLC2A1
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign
SLC2A1
Single nucleotide variant
(synonymous variant)
Hereditary cryohydrocytosis with reduced stomatin
+8 more
GBenign/Likely benign
SLC2A1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC2A1
Single nucleotide variant
(intron variant)
GLUT1 deficiency syndrome 1, autosomal recessive
+7 more
GBenign
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