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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALE
(G319E)
Single nucleotide variant
(missense variant)
GALE-related condition
+2 more
GConflicting classifications of pathogenicity; other
GALE
(G302D)
Single nucleotide variant
(missense variant)
UDPglucose-4-epimerase deficiency
GLikely pathogenic
GALE
(K257R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity; other
GALE
(R239W)
Single nucleotide variant
(missense variant)
UDPglucose-4-epimerase deficiency
GPathogenic/Likely pathogenic
GALE
(R169W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GALE
(V94M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
GALE
(R51W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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