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Links from MedGen

Items: 1 to 100 of 111

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALT
(G179R +1 more)
Single nucleotide variant
(missense variant)
Galactosemia
GLikely pathogenic
GALT
(T29M +2 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
GALT
Single nucleotide variant
(synonymous variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
Single nucleotide variant
(5 prime UTR variant)
Galactosemia
GUncertain significance
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(V168del +1 more)
Deletion
(inframe_deletion)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GUncertain significance
GALT
(E243G +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
GALT
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
GALT
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
GALT
(H256R +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GALT
(R149H +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GUncertain significance
GALT
(H184Y +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GUncertain significance
GALT, LOC130001683
Single nucleotide variant
(splice donor variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
GALT
(T241N +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GConflicting classifications of pathogenicity
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
(S307T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALT
Single nucleotide variant
(synonymous variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GLikely benign
GALT
(Q252K +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GUncertain significance
GALT
(T138R +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GConflicting classifications of pathogenicity
GALT
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
GALT
(R11H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
GALT
(R272C +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GConflicting classifications of pathogenicity
GALT
(R223C +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+3 more
GConflicting classifications of pathogenicity
GALT
(T284N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GALT
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
GALT
(W239R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GALT
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GConflicting classifications of pathogenicity
GALT
(D90H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GALT, LOC130001683
(L71V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GALT, LOC130001683
(E58K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GALT
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GUncertain significance
GALT
(G105R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GConflicting classifications of pathogenicity
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GConflicting classifications of pathogenicity
GALT
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
GALT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALT
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
GALT
(R259Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GALT
(R123*)
Single nucleotide variant
(nonsense +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GPathogenic
GALT
Single nucleotide variant
(synonymous variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+2 more
GUncertain significance
GALT
(P242fs)
Deletion
(frameshift variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GPathogenic/Likely pathogenic
GALT
(R259W +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GPathogenic/Likely pathogenic
GALT
(N314D +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
GALT
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
GALT
(N97del)
Deletion
(inframe_deletion +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
GALT
Single nucleotide variant
(synonymous variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GBenign; other
GALT
Single nucleotide variant
(synonymous variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GBenign/Likely benign
GALT
(R333Q +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GPathogenic/Likely pathogenic
GALT
(R148W +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GPathogenic
GALT
(S143L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GALT
(H132Y +1 more)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GConflicting classifications of pathogenicity
GALT
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
GALT
Single nucleotide variant
(synonymous variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GBenign
GALT
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
GALT
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
GALT, LOC130001683
(H68P +1 more)
Single nucleotide variant
(missense variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+2 more
GConflicting classifications of pathogenicity
GALT
(I269V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GALT
(E231K)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GConflicting classifications of pathogenicity
GALT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GALT
(R219H)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic/Likely pathogenic
GALT
(P325L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GALT
(H212Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALT
(A211T)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GConflicting classifications of pathogenicity
GALT
(W316* +1 more)
Single nucleotide variant
(nonsense)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic/Likely pathogenic
GALT
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GALT
(P156A)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
GALT
Deletion
(inframe_deletion)
not specified
GUncertain significance
GALT
(W249* +1 more)
Single nucleotide variant
(nonsense)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic
GALT
(R122H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GALT
(R122C)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GPathogenic/Likely pathogenic
GALT
Deletion
(nonsense)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic/Likely pathogenic
GALT
(Y100S)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic/Likely pathogenic
GALT
(Y100C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GALT
(R204* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
GALT
(R92H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GALT
(R92C)
Single nucleotide variant
(missense variant)
not specified
+2 more
GPathogenic/Likely pathogenic
GALT
(Q91fs)
Deletion
(frameshift variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GPathogenic/Likely pathogenic
GALT
(L86P)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GPathogenic
GALT
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GALT
(P76L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GALT
(H75Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GALT
(G66D)
Single nucleotide variant
(missense variant)
not specified
+1 more
GPathogenic/Likely pathogenic
GALT
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GBenign
GALT
(V59L)
Single nucleotide variant
(missense variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
GPathogenic/Likely pathogenic
GALT
(V42A)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
GALT
(R39Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GALT
(T29M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
GALT
(W25fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
GALT
Single nucleotide variant
(intron variant)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+2 more
GBenign
GALT
Single nucleotide variant
(splice donor variant +1 more)
not provided
+2 more
GPathogenic
GALT
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
+1 more
GPathogenic
GALT
Single nucleotide variant
(missense variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GPathogenic/Likely pathogenic
GALT
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GALT
Single nucleotide variant
(splice acceptor variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic
GALT, LOC130001683
Single nucleotide variant
(missense variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GPathogenic/Likely pathogenic
GALT, LOC130001683
Single nucleotide variant
(missense variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+2 more
GUncertain significance
GALT
Single nucleotide variant
(missense variant +1 more)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
+1 more
GConflicting classifications of pathogenicity
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