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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC5A1
(I34T)
Single nucleotide variant
(missense variant)
Congenital glucose-galactose malabsorption
GUncertain significance
SLC5A1
Single nucleotide variant
(intron variant)
Congenital glucose-galactose malabsorption
GUncertain significance
SLC5A1
(C128W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
SLC5A1
(R300S +1 more)
Single nucleotide variant
(missense variant)
Congenital glucose-galactose malabsorption
GUncertain significance
SLC5A1
(R558H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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