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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC2A1
(F422L)
Single nucleotide variant
(missense variant)
Encephalopathy due to GLUT1 deficiency
+1 more
GLikely pathogenic
SLC2A1
(T321P)
Single nucleotide variant
(missense variant)
Encephalopathy due to GLUT1 deficiency
GUncertain significance
SLC2A1
(A301V)
Single nucleotide variant
(missense variant)
Encephalopathy due to GLUT1 deficiency
+1 more
GConflicting classifications of pathogenicity
SLC2A1
Single nucleotide variant
(intron variant)
Encephalopathy due to GLUT1 deficiency
GLikely pathogenic
SLC2A1
(N34D)
Single nucleotide variant
(missense variant)
Encephalopathy due to GLUT1 deficiency
GPathogenic/Likely pathogenic
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