U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALT, LOC130001682
+1 more
Deletion
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
GALT
Microsatellite
not specified
+2 more
GConflicting classifications of pathogenicity; other
GALT
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
GALT
(S135L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
GALT
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
GALT
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
GALT
(Q188R +1 more)
Single nucleotide variant
(missense variant)
GALT-related condition
+3 more
GPathogenic
GALT
(L86P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GALT
(Y100C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GALT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign; other
GALT
(K285N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GALT
(N314D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALT
(N314D +1 more)
Single nucleotide variant
(missense variant +1 more)
GALT POLYMORPHISM (LOS ANGELES, D1)
+1 more
GBenign
GALT
(N314D +1 more)
Single nucleotide variant
(missense variant)
GALT-related condition
+3 more
GConflicting classifications of pathogenicity; other
Format
Items per page
Sort by
Choose Destination