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Items: 76

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UGT1A3, UGT1A4
+8 more
Insertion
(intron variant)
UGT1A1-Related Disorders
+1 more
GPathogenic; other
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
UGT1A6, UGT1A7
+8 more
(G7S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
(G8R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
(A46V)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
UGT1A1, UGT1A
+8 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
UGT1A, UGT1A4
+8 more
Single nucleotide variant
(synonymous variant +1 more)
UGT1A1-related condition
+6 more
GConflicting classifications of pathogenicity
UGT1A10, UGT1A3
+8 more
(Q48E)
Single nucleotide variant
(missense variant +1 more)
Lucey-Driscoll syndrome
+3 more
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
UGT1A5, UGT1A6
+8 more
(E56A)
Single nucleotide variant
(missense variant +1 more)
Lucey-Driscoll syndrome
+3 more
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant +1 more)
UGT1A1-related condition
+4 more
GConflicting classifications of pathogenicity
UGT1A8, UGT1A9
+8 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
(D70E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
(G71R)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity; drug response
UGT1A, UGT1A1
+8 more
(Y74*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant +1 more)
Crigler-Najjar syndrome
+3 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(V109A)
Single nucleotide variant
(missense variant +1 more)
UGT1A1-related condition
+4 more
GConflicting classifications of pathogenicity
UGT1A, UGT1A1
+8 more
(H129R)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(N133K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UGT1A3, UGT1A4
+8 more
(S143N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UGT1A4, UGT1A5
+8 more
Single nucleotide variant
(intron variant +1 more)
Lucey-Driscoll syndrome
+3 more
GConflicting classifications of pathogenicity
UGT1A, UGT1A1
+8 more
(L175Q)
Single nucleotide variant
(missense variant +1 more)
UGT1A1-related condition
+1 more
GPathogenic/Likely pathogenic; other
UGT1A3, UGT1A4
+8 more
Single nucleotide variant
(synonymous variant +1 more)
Crigler-Najjar syndrome
+4 more
GConflicting classifications of pathogenicity
UGT1A6, UGT1A9
+8 more
(Y192C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UGT1A1, UGT1A10
+8 more
(V193M)
Single nucleotide variant
(missense variant +1 more)
Crigler-Najjar syndrome
+4 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(R209fs)
Duplication
(intron variant +1 more)
not provided
+1 more
GPathogenic
UGT1A1, UGT1A10
+8 more
(V225G)
Single nucleotide variant
(missense variant +1 more)
UGT1A1-related condition
+6 more
GConflicting classifications of pathogenicity; other
UGT1A, UGT1A1
+8 more
(P229Q)
Single nucleotide variant
(missense variant +1 more)
UGT1A1-related condition
+2 more
GConflicting classifications of pathogenicity; other
UGT1A1, UGT1A10
+8 more
(E241fs)
Microsatellite
(frameshift variant +1 more)
UGT1A1-Related Disorders
+2 more
GPathogenic
UGT1A7, UGT1A8
+8 more
(S250P)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
(V273F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UGT1A6, UGT1A7
+8 more
(N279Y)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
UGT1A10, UGT1A3
+8 more
(C280G)
Single nucleotide variant
(missense variant +1 more)
Lucey-Driscoll syndrome
+3 more
GUncertain significance
UGT1A, UGT1A6
+8 more
Single nucleotide variant
(intron variant +1 more)
not provided
GPathogenic
UGT1A, UGT1A1
+8 more
(Y25fs +4 more)
Indel
(frameshift variant)
not provided
GPathogenic
UGT1A, UGT1A1
+8 more
(V303M +4 more)
Single nucleotide variant
(missense variant)
UGT1A1-related condition
+1 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(L334Q +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
(R336W +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
UGT1A, UGT1A1
+8 more
(W354R +4 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
UGT1A3, UGT1A4
+8 more
(Q357* +4 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
UGT1A, UGT1A1
+8 more
(N358T +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
UGT1A, UGT1A8
+8 more
(G362S +4 more)
Single nucleotide variant
(missense variant)
UGT1A1-related condition
+1 more
GConflicting classifications of pathogenicity
UGT1A10, UGT1A5
+8 more
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
UGT1A, UGT1A1
+8 more
(G362V +4 more)
Single nucleotide variant
(missense variant)
UGT1A1-related condition
+1 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(P361L +4 more)
Single nucleotide variant
(missense variant)
Bilirubin, serum level of, quantitative trait locus 1
+8 more
GConflicting classifications of pathogenicity; other
UGT1A, UGT1A1
+8 more
(R367C +4 more)
Single nucleotide variant
(missense variant)
UGT1A1-related condition
+6 more
GUncertain significance
UGT1A5, UGT1A6
+8 more
(R367L +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
UGT1A9, UGT1A
+8 more
(I370V +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
UGT1A, UGT1A1
+8 more
Indel
(inframe_indel)
not provided
GUncertain significance
UGT1A5, UGT1A8
+8 more
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
UGT1A7, UGT1A8
+8 more
(V386I +4 more)
Single nucleotide variant
(missense variant)
UGT1A1-related condition
+1 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(P119R +4 more)
Indel
(missense variant)
not provided
GLikely pathogenic
UGT1A10, UGT1A
+8 more
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
UGT1A10, UGT1A3
+8 more
(M390I +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
UGT1A1, UGT1A10
+8 more
(P392S +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
UGT1A10, UGT1A3
+8 more
(P392L +4 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
UGT1A, UGT1A1
+8 more
(N400H +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
UGT1A, UGT1A4
+8 more
(R403C +4 more)
Single nucleotide variant
(missense variant)
Lucey-Driscoll syndrome
+5 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(R403H +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
UGT1A8, UGT1A9
+8 more
(V143L +4 more)
Single nucleotide variant
(missense variant)
UGT1A1-related condition
+2 more
GConflicting classifications of pathogenicity
UGT1A6, UGT1A7
+8 more
(M441T +4 more)
Single nucleotide variant
(missense variant)
Crigler-Najjar syndrome
+4 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(R442C +4 more)
Single nucleotide variant
(missense variant)
Crigler-Najjar syndrome, type II
+6 more
GUncertain significance
UGT1A1, UGT1A10
+8 more
(R450C +4 more)
Single nucleotide variant
(missense variant)
UGT1A1-related condition
+1 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(R450H +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
UGT1A10, UGT1A3
+8 more
(P183L +4 more)
Single nucleotide variant
(missense variant)
Bilirubin, serum level of, quantitative trait locus 1
+5 more
GConflicting classifications of pathogenicity
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
UGT1A4, UGT1A5
+8 more
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
UGT1A, UGT1A1
+8 more
(H487Y +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
UGT1A5, UGT1A6
+8 more
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
UGT1A1, UGT1A10
+8 more
(V231M +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
(R515L +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
UGT1A5, UGT1A6
+8 more
(G519R +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
UGT1A1, UGT1A
+8 more
(K520E +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
UGT1A1, UGT1A10
+8 more
(G522R +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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