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Links from MedGen

Items: 1 to 100 of 195

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC2A1
(R334W)
Single nucleotide variant
(missense variant)
Childhood onset GLUT1 deficiency syndrome 2
GUncertain significance
SLC2A1
(M142L)
Single nucleotide variant
(missense variant)
Childhood onset GLUT1 deficiency syndrome 2
GLikely pathogenic
SLC2A1
(P362S)
Single nucleotide variant
(missense variant)
Encephalopathy due to GLUT1 deficiency
+6 more
GUncertain significance
SLC2A1
(T448A)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
SLC2A1
(R92Q)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
SLC2A1
(L338F)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GUncertain significance
SLC2A1, SLC2A1-DT
(K6*)
Single nucleotide variant
(nonsense)
Childhood onset GLUT1 deficiency syndrome 2
GPathogenic
SLC2A1
(A377D)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
SLC2A1
(P479H)
Single nucleotide variant
(missense variant)
Childhood onset GLUT1 deficiency syndrome 2
GUncertain significance
SLC2A1
(G84S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
SLC2A1
(M420I)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GUncertain significance
SLC2A1
(G125A)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GUncertain significance
SLC2A1
(R89H)
Single nucleotide variant
(missense variant)
Dystonia 9
+6 more
GUncertain significance
SLC2A1
(E41K)
Single nucleotide variant
(missense variant)
SLC2A1-related disorder
+6 more
GUncertain significance
SLC2A1
(R253W)
Single nucleotide variant
(missense variant)
Encephalopathy due to GLUT1 deficiency
+6 more
GUncertain significance
SLC2A1
(F379S)
Single nucleotide variant
(missense variant)
Childhood onset GLUT1 deficiency syndrome 2
GLikely pathogenic
SLC2A1
Insertion
(intron variant)
Hereditary cryohydrocytosis with reduced stomatin
+3 more
GBenign
SLC2A1
(I349fs)
Insertion
(frameshift variant)
Childhood onset GLUT1 deficiency syndrome 2
GPathogenic
SLC2A1
(G175S)
Single nucleotide variant
(missense variant)
Dystonia 9
+6 more
GConflicting classifications of pathogenicity
SLC2A1
(V147M)
Single nucleotide variant
(missense variant)
Dystonia 9
+6 more
GUncertain significance
SLC2A1
(I216V)
Single nucleotide variant
(missense variant)
Dystonia 9
+6 more
GUncertain significance
SLC2A1
(H484Y)
Single nucleotide variant
(missense variant)
Dystonia 9
+6 more
GUncertain significance
SLC2A1
(G398S)
Single nucleotide variant
(missense variant)
Dystonia 9
+6 more
GUncertain significance
SLC2A1
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GLikely benign
SLC2A1
(P196L)
Single nucleotide variant
(missense variant)
Childhood onset GLUT1 deficiency syndrome 2
+6 more
GUncertain significance
SLC2A1
Single nucleotide variant
(intron variant)
Childhood onset GLUT1 deficiency syndrome 2
GUncertain significance
SLC2A1
(V433I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GConflicting classifications of pathogenicity
SLC2A1
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GLikely benign
SLC2A1
(L284P)
Single nucleotide variant
(missense variant)
Childhood onset GLUT1 deficiency syndrome 2
GLikely pathogenic
SLC2A1
(P196A)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GUncertain significance
SLC2A1
Single nucleotide variant
(synonymous variant)
Dystonia 9
+7 more
GLikely benign
SLC2A1
(L231P)
Single nucleotide variant
(missense variant)
Childhood onset GLUT1 deficiency syndrome 2
GLikely pathogenic
SLC2A1
Single nucleotide variant
(synonymous variant)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GLikely benign
SLC2A1
(S210R)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
SLC2A1
(P479T)
Single nucleotide variant
(missense variant)
GLUT1 deficiency syndrome 1, autosomal recessive
+6 more
GLikely benign
SLC2A1
Single nucleotide variant
(intron variant)
GLUT1 deficiency syndrome 1, autosomal recessive
+6 more
GUncertain significance
SLC2A1
(F450I)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+5 more
GUncertain significance
SLC2A1
(F263L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
SLC2A1
(S73F)
Single nucleotide variant
(missense variant)
Childhood onset GLUT1 deficiency syndrome 2
GUncertain significance
SLC2A1
(E209K)
Single nucleotide variant
(missense variant)
SLC2A1-related disorder
+8 more
GUncertain significance
SLC2A1
(R51H)
Single nucleotide variant
(missense variant)
Dystonia 9
+6 more
GUncertain significance
SLC2A1
(M98fs)
Deletion
(frameshift variant)
Childhood onset GLUT1 deficiency syndrome 2
GPathogenic
SLC2A1
(M344fs)
Duplication
(frameshift variant)
Dystonia 9
+3 more
GPathogenic
SLC2A1
(A331T)
Single nucleotide variant
(missense variant)
Childhood onset GLUT1 deficiency syndrome 2
+6 more
GUncertain significance
SLC2A1
(A171T)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GUncertain significance
SLC2A1
(V131A)
Single nucleotide variant
(missense variant)
Childhood onset GLUT1 deficiency syndrome 2
+6 more
GUncertain significance
SLC2A1
Single nucleotide variant
(synonymous variant)
Hereditary cryohydrocytosis with reduced stomatin
+5 more
GBenign/Likely benign
SLC2A1
(T310I)
Single nucleotide variant
(missense variant)
Encephalopathy due to GLUT1 deficiency
+1 more
GLikely pathogenic
SLC2A1
(M96T)
Single nucleotide variant
(missense variant)
Encephalopathy due to GLUT1 deficiency
+2 more
GPathogenic/Likely pathogenic
SLC2A1
(R223Q)
Single nucleotide variant
(missense variant)
Dystonia 9
+7 more
GUncertain significance
SLC2A1
(C201G)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
SLC2A1
(E246fs)
Microsatellite
(frameshift variant)
Childhood onset GLUT1 deficiency syndrome 2
+2 more
GPathogenic
SLC2A1
(F434V)
Single nucleotide variant
(missense variant)
Childhood onset GLUT1 deficiency syndrome 2
GLikely pathogenic
SLC2A1
(K256del)
Microsatellite
(inframe_deletion)
not provided
+6 more
GUncertain significance
SLC2A1
Single nucleotide variant
(synonymous variant)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GLikely benign
SLC2A1
Single nucleotide variant
(synonymous variant)
Encephalopathy due to GLUT1 deficiency
+6 more
GLikely benign
SLC2A1
Single nucleotide variant
(synonymous variant)
Hereditary cryohydrocytosis with reduced stomatin
+7 more
GLikely benign
SLC2A1
Single nucleotide variant
(synonymous variant)
Dystonia 9
+5 more
GLikely benign
SLC2A1
Single nucleotide variant
(synonymous variant)
Encephalopathy due to GLUT1 deficiency
+6 more
GLikely benign
SLC2A1
Single nucleotide variant
(synonymous variant)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GLikely benign
SLC2A1
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GLikely benign
SLC2A1
Single nucleotide variant
(synonymous variant)
Childhood onset GLUT1 deficiency syndrome 2
+1 more
GConflicting classifications of pathogenicity
SLC2A1
(R269H)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+5 more
GUncertain significance
SLC2A1
(Q25K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+8 more
GUncertain significance
SLC2A1
(G408D)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+5 more
GUncertain significance
SLC2A1
(N34S)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GPathogenic
SLC2A1
(T9M)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+7 more
GUncertain significance
SLC2A1
(L185P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GUncertain significance
SLC2A1
Single nucleotide variant
(synonymous variant)
Dystonia 9
+4 more
GUncertain significance
SLC2A1
Single nucleotide variant
(synonymous variant)
GLUT1 deficiency syndrome 1, autosomal recessive
+5 more
GConflicting classifications of pathogenicity
SLC2A1
(S55fs)
Duplication
(frameshift variant)
Hereditary cryohydrocytosis with reduced stomatin
+4 more
GPathogenic
SLC2A1
(V391M)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+7 more
GUncertain significance
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)
Encephalopathy due to GLUT1 deficiency
+6 more
GLikely benign
SLC2A1
Single nucleotide variant
(synonymous variant)
Encephalopathy due to GLUT1 deficiency
+7 more
GLikely benign
SLC2A1
Single nucleotide variant
(synonymous variant)
Encephalopathy due to GLUT1 deficiency
+7 more
GLikely benign
SLC2A1
(S113L)
Single nucleotide variant
(missense variant)
Childhood onset GLUT1 deficiency syndrome 2
+6 more
GUncertain significance
SLC2A1
(R11C)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 12
+6 more
GUncertain significance
SLC2A1
(Q46E)
Single nucleotide variant
(missense variant)
Childhood onset GLUT1 deficiency syndrome 2
+6 more
GUncertain significance
SLC2A1
(A301G)
Single nucleotide variant
(missense variant)
Encephalopathy due to GLUT1 deficiency
+6 more
GUncertain significance
SLC2A1
Single nucleotide variant
(intron variant)
Childhood onset GLUT1 deficiency syndrome 2
+7 more
GBenign/Likely benign
SLC2A1
(P58S)
Single nucleotide variant
(missense variant)
Childhood onset GLUT1 deficiency syndrome 2
+6 more
GUncertain significance
SLC2A1
(R334Q)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
SLC2A1
Single nucleotide variant
(synonymous variant)
Hereditary cryohydrocytosis with reduced stomatin
+7 more
GConflicting classifications of pathogenicity
SLC2A1
Single nucleotide variant
(synonymous variant)
not provided
+8 more
GBenign/Likely benign
SLC2A1
Single nucleotide variant
(synonymous variant)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GLikely benign
SLC2A1
Single nucleotide variant
(intron variant)
not specified
+6 more
GLikely benign
SLC2A1
Single nucleotide variant
(synonymous variant)
Childhood onset GLUT1 deficiency syndrome 2
+6 more
GLikely benign
SLC2A1
Single nucleotide variant
(synonymous variant)
Epilepsy, idiopathic generalized, susceptibility to, 12
+6 more
GLikely benign
SLC2A1
Deletion
(intron variant)
not specified
+6 more
GBenign/Likely benign
SLC2A1
Single nucleotide variant
(intron variant)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GLikely benign
SLC2A1
Single nucleotide variant
(synonymous variant)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GLikely benign
SLC2A1
(R264H)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GUncertain significance
SLC2A1
(V316I)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GUncertain significance
SLC2A1
(G233R)
Single nucleotide variant
(missense variant)
Childhood onset GLUT1 deficiency syndrome 2
+5 more
GUncertain significance
SLC2A1
(S473N)
Single nucleotide variant
(missense variant)
Dystonia 9
+6 more
GUncertain significance
SLC2A1
(V303L)
Single nucleotide variant
(missense variant)
Dystonia 9
+6 more
GUncertain significance
SLC2A1
(R333Q)
Single nucleotide variant
(missense variant)
Encephalopathy due to GLUT1 deficiency
+3 more
GPathogenic/Likely pathogenic
SLC2A1
Single nucleotide variant
(synonymous variant)
Dystonia 9
+7 more
GBenign/Likely benign
SLC2A1
(T318M)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 12
+6 more
GUncertain significance
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