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Links from MedGen

Items: 1 to 100 of 168

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC2A1
(F127V)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 12
GUncertain significance
SLC2A1
(M420I)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 12
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)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GUncertain significance
SLC2A1
(L338F)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GUncertain significance
SLC2A1
(A377D)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
SLC2A1
(G84S)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
SLC2A1
(R468Q)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 12
GUncertain significance
SLC2A1
Single nucleotide variant
(splice donor variant)
Epilepsy, idiopathic generalized, susceptibility to, 12
GLikely pathogenic
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)
SLC2A1-related condition
+6 more
GUncertain significance
SLC2A1
(E41K)
Single nucleotide variant
(missense variant)
SLC2A1-related condition
+6 more
GUncertain significance
SLC2A1
(R253W)
Single nucleotide variant
(missense variant)
Encephalopathy due to GLUT1 deficiency
+6 more
GUncertain significance
SLC2A1
(M142I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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
(V433I)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+7 more
GConflicting classifications of pathogenicity
SLC2A1
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GLikely benign
SLC2A1
(P196A)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GUncertain significance
SLC2A1
Single nucleotide variant
(synonymous variant)
Epilepsy, idiopathic generalized, susceptibility to, 12
+7 more
GLikely benign
SLC2A1
Single nucleotide variant
(synonymous variant)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GLikely benign
SLC2A1
(S210R)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+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
(E209K)
Single nucleotide variant
(missense variant)
SLC2A1-related condition
+8 more
GUncertain significance
SLC2A1
(R51H)
Single nucleotide variant
(missense variant)
Dystonia 9
+6 more
GUncertain significance
SLC2A1
(A331T)
Single nucleotide variant
(missense variant)
Childhood onset GLUT1 deficiency syndrome 2
+6 more
GUncertain significance
SLC2A1
(A171T)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
SLC2A1
(V131A)
Single nucleotide variant
(missense variant)
Encephalopathy due to GLUT1 deficiency
+6 more
GUncertain significance
SLC2A1
Single nucleotide variant
(synonymous variant)
Hereditary cryohydrocytosis with reduced stomatin
+5 more
GBenign/Likely benign
SLC2A1
(R223Q)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
SLC2A1
(C201G)
Single nucleotide variant
(missense variant)
Encephalopathy due to GLUT1 deficiency
+7 more
GUncertain significance
SLC2A1
(K256del)
Microsatellite
(inframe_deletion)
Hereditary cryohydrocytosis with reduced stomatin
+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)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GLikely benign
SLC2A1
Single nucleotide variant
(synonymous variant)
Epilepsy, idiopathic generalized, susceptibility to, 12
+7 more
GLikely benign
SLC2A1
Single nucleotide variant
(synonymous variant)
Dystonia 9
+5 more
GLikely benign
SLC2A1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+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
(R269H)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+5 more
GUncertain significance
SLC2A1
(Q25K)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+7 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
+6 more
GUncertain significance
SLC2A1
(L185P)
Single nucleotide variant
(missense variant)
Encephalopathy due to GLUT1 deficiency
+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
(R232H)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 12
+2 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)
Dystonia 9
+6 more
GLikely benign
SLC2A1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+7 more
GLikely benign
SLC2A1
Single nucleotide variant
(synonymous variant)
Childhood onset GLUT1 deficiency syndrome 2
+7 more
GLikely benign
SLC2A1
(S113L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+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)
not specified
+7 more
GBenign/Likely benign
SLC2A1
(P58S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+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)
Hereditary cryohydrocytosis with reduced stomatin
+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)
Epilepsy, idiopathic generalized, susceptibility to, 12
+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)
Childhood onset GLUT1 deficiency syndrome 2
+6 more
GUncertain significance
SLC2A1
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GBenign/Likely benign
SLC2A1
(T318M)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
SLC2A1
(A354T)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GUncertain significance
SLC2A1
Single nucleotide variant
(synonymous variant)
Dystonia 9
+8 more
GLikely benign
SLC2A1
(V105L)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GUncertain significance
SLC2A1
Single nucleotide variant
(intron variant)
GLUT1 deficiency syndrome 1, autosomal recessive
+7 more
GBenign
SLC2A1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+6 more
GLikely benign
SLC2A1
(T63M)
Single nucleotide variant
(missense variant)
Encephalopathy due to GLUT1 deficiency
+7 more
GConflicting classifications of pathogenicity
SLC2A1
Single nucleotide variant
(synonymous variant)
Hereditary cryohydrocytosis with reduced stomatin
+7 more
GLikely benign
SLC2A1
Single nucleotide variant
(synonymous variant)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GLikely benign
SLC2A1
Single nucleotide variant
(intron variant)
Childhood onset GLUT1 deficiency syndrome 2
+6 more
GBenign/Likely benign
SLC2A1
Single nucleotide variant
(synonymous 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
Single nucleotide variant
(synonymous variant)
Childhood onset GLUT1 deficiency syndrome 2
+7 more
GBenign/Likely benign
SLC2A1
(Q282*)
Single nucleotide variant
(nonsense)
GLUT1 deficiency syndrome 1, autosomal recessive
+3 more
GPathogenic
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