U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALE
(D327H)
Single nucleotide variant
(missense variant)
UDPglucose-4-epimerase deficiency
+1 more
GUncertain significance
GALE
(G319E)
Single nucleotide variant
(missense variant)
GALE-related condition
+2 more
GConflicting classifications of pathogenicity; other
GALE
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
GALE
(R300W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GALE
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
GALE
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
GALE
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
GALE
Single nucleotide variant
(splice acceptor variant)
UDPglucose-4-epimerase deficiency
+1 more
GPathogenic/Likely pathogenic
GALE
Single nucleotide variant
(synonymous variant)
GALE-related condition
+2 more
GBenign/Likely benign
GALE
(K257R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity; other
GALE
(I252T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GALE
(G237D)
Single nucleotide variant
(missense variant)
UDPglucose-4-epimerase deficiency
+1 more
GUncertain significance
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
+1 more
GConflicting classifications of pathogenicity
GALE
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
GALE
(R220P)
Single nucleotide variant
(missense variant)
UDPglucose-4-epimerase deficiency
+1 more
GUncertain significance
GALE
(R220W)
Single nucleotide variant
(missense variant)
UDPglucose-4-epimerase deficiency
+2 more
GUncertain significance
GALE
(A216V)
Single nucleotide variant
(missense variant)
UDPglucose-4-epimerase deficiency
+1 more
GUncertain significance
GALE
(P210L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GALE
(P201L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GALE
(R184H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GALE
(L182P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GALE
(R169W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GALE
(E146K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GALE
(Y136*)
Single nucleotide variant
(nonsense)
not specified
+2 more
GConflicting classifications of pathogenicity
GALE
(A133V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GALE
(V128M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GALE
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GALE
(V94M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
GALE
(L91fs)
Deletion
(frameshift variant)
not provided
GPathogenic
GALE
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALE
(D69N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GALE
(R40H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GALE
(N34S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
GALE
Deletion
(inframe_indel)
not provided
GUncertain significance
GALE
(D33N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GALE
(T18M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GALE
(H17Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination