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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC2A1
(R468W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC2A1
(R333W)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+8 more
GPathogenic/Likely pathogenic
SLC2A1
(T295M)
Single nucleotide variant
(missense variant)
GLUT1 deficiency syndrome
+3 more
GPathogenic
SLC2A1
(K256V)
Indel
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+6 more
GUncertain significance
SLC2A1
(R126H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
SLC2A1
(R126L)
Single nucleotide variant
(missense variant)
GLUT1 deficiency syndrome 1, autosomal recessive
GPathogenic
SLC2A1
(R126C)
Single nucleotide variant
(missense variant)
Hereditary cryohydrocytosis with reduced stomatin
+3 more
GPathogenic/Likely pathogenic
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