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Items: 1 to 100 of 379

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112577491, LOC112577504
+2149 more
Copy number gain
Trisomy 12p
GPathogenic
GALE
Duplication
(3 prime UTR variant)
UDPglucose-4-epimerase deficiency
GUncertain significance
GALE
Single nucleotide variant
(3 prime UTR variant)
UDPglucose-4-epimerase deficiency
GUncertain significance
GALE
Single nucleotide variant
(3 prime UTR variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(3 prime UTR variant)
UDPglucose-4-epimerase deficiency
GUncertain significance
GALE
Single nucleotide variant
(3 prime UTR variant)
UDPglucose-4-epimerase deficiency
GUncertain significance
GALE
Single nucleotide variant
(3 prime UTR variant)
UDPglucose-4-epimerase deficiency
GUncertain significance
GALE
Single nucleotide variant
(3 prime UTR variant)
UDPglucose-4-epimerase deficiency
GUncertain significance
GALE
Single nucleotide variant
(3 prime UTR variant)
UDPglucose-4-epimerase deficiency
GUncertain significance
GALE
Single nucleotide variant
(synonymous variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
(G343A)
Single nucleotide variant
(missense variant)
UDPglucose-4-epimerase deficiency
GUncertain significance
GALE
Single nucleotide variant
(synonymous variant)
UDPglucose-4-epimerase deficiency
+1 more
GLikely benign
GALE
(R335H)
Single nucleotide variant
(missense variant)
GALE-related disorder
+1 more
GLikely pathogenic
GALE
(R335C)
Single nucleotide variant
(missense variant)
GALE-related disorder
+1 more
GUncertain significance
GALE
(W334R)
Single nucleotide variant
(missense variant)
UDPglucose-4-epimerase deficiency
GUncertain significance
GALE
Single nucleotide variant
(synonymous variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
(L333I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GALE
Single nucleotide variant
(synonymous variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(synonymous variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
(C330Y)
Single nucleotide variant
(missense variant)
UDPglucose-4-epimerase deficiency
GUncertain significance
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Deletion
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
GALE-related disorder
+1 more
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GConflicting classifications of pathogenicity
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GConflicting classifications of pathogenicity
GALE
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
GALE
(D327H)
Single nucleotide variant
(missense variant)
UDPglucose-4-epimerase deficiency
+1 more
GUncertain significance
GALE
Single nucleotide variant
(synonymous variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
(G325R)
Single nucleotide variant
(missense variant)
UDPglucose-4-epimerase deficiency
GUncertain significance
GALE
Single nucleotide variant
(synonymous variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
(G319E)
Single nucleotide variant
(missense variant)
GALE-related disorder
+2 more
GConflicting classifications of pathogenicity; other
GALE
(G319R)
Single nucleotide variant
(missense variant)
UDPglucose-4-epimerase deficiency
GUncertain significance
GALE
(L318M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GALE
Single nucleotide variant
(synonymous variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
(L313M)
Single nucleotide variant
(missense variant)
UDPglucose-4-epimerase deficiency
GPathogenic
GALE
Single nucleotide variant
(synonymous variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
(S312fs)
Deletion
(frameshift variant)
UDPglucose-4-epimerase deficiency
GPathogenic
GALE
Single nucleotide variant
(synonymous variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
(Y308C)
Single nucleotide variant
(missense variant)
UDPglucose-4-epimerase deficiency
GUncertain significance
GALE
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
GALE
(G302D)
Single nucleotide variant
(missense variant)
UDPglucose-4-epimerase deficiency
GLikely pathogenic
GALE
(G302C)
Single nucleotide variant
(missense variant)
UDPglucose-4-epimerase deficiency
GUncertain significance
GALE
(R300Q)
Single nucleotide variant
(missense variant)
UDPglucose-4-epimerase deficiency
GUncertain significance
GALE
(R300W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GALE
(R299W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GALE
Single nucleotide variant
(synonymous variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
(V297M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GALE
Single nucleotide variant
(synonymous variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(synonymous variant)
UDPglucose-4-epimerase deficiency
+2 more
GBenign/Likely benign
GALE
(P293L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GALE
Single nucleotide variant
(splice acceptor variant)
Inborn genetic diseases
GUncertain significance
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GConflicting classifications of pathogenicity
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Insertion
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Insertion
(intron variant)
UDPglucose-4-epimerase deficiency
GConflicting classifications of pathogenicity
GALE
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
GALE
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GUncertain significance
GALE
Single nucleotide variant
(splice donor variant)
UDPglucose-4-epimerase deficiency
GLikely pathogenic
GALE
Single nucleotide variant
(synonymous variant)
UDPglucose-4-epimerase deficiency
GUncertain significance
GALE
Single nucleotide variant
(synonymous variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
(E285K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GALE
Single nucleotide variant
(synonymous variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(synonymous variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(synonymous variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(synonymous variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
(G274R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GALE
(G272fs)
Deletion
(frameshift variant)
UDPglucose-4-epimerase deficiency
GPathogenic
GALE
Single nucleotide variant
(synonymous variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
(T271M)
Single nucleotide variant
(missense variant)
UDPglucose-4-epimerase deficiency
GUncertain significance
GALE
(G270D)
Single nucleotide variant
(missense variant)
UDPglucose-4-epimerase deficiency
GUncertain significance
GALE
Single nucleotide variant
(synonymous variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
(I266L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GALE
Single nucleotide variant
(splice acceptor variant)
UDPglucose-4-epimerase deficiency
+1 more
GPathogenic/Likely pathogenic
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Single nucleotide variant
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
GALE
Deletion
(intron variant)
UDPglucose-4-epimerase deficiency
GLikely benign
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