U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 685

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALT
Single nucleotide variant
(splice acceptor variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely pathogenic
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GUncertain significance
GALT, LOC130001683
(L43fs)
Deletion
(frameshift variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely pathogenic
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(synonymous variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(M142L +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely pathogenic
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(synonymous variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT, LOC130001683
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(M170V +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely pathogenic
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(M1L)
Single nucleotide variant
(missense variant +2 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(G190D +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely pathogenic
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT, LOC130001683
Microsatellite
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(P186S +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely pathogenic
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(synonymous variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(T350S +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely pathogenic
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(R114H +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely pathogenic
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Microsatellite
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(W45R)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(E243Q +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(M170R)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely pathogenic
GALT
(M68V +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GUncertain significance
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(S113N +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(I38V +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
GALT
Single nucleotide variant
(synonymous variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(synonymous variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(synonymous variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(synonymous variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(synonymous variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(synonymous variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(synonymous variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(synonymous variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(synonymous variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(P215L +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely pathogenic
GALT
(W167* +1 more)
Single nucleotide variant
(nonsense)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(P87A +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely pathogenic
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(C187Y +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GUncertain significance
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(Q88fs)
Duplication
(frameshift variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
GALT
Single nucleotide variant
(synonymous variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(W130C +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GUncertain significance
GALT, LOC130001683
(L3P)
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT, LOC130001683
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(synonymous variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(splice donor variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT, LOC130001683
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(synonymous variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(synonymous variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(synonymous variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
Format
Items per page
Sort by
Choose Destination