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Links from MedGen

Items: 80

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UGT1A, UGT1A1
+8 more
(V242fs)
Deletion
(frameshift variant +1 more)
Crigler-Najjar syndrome type 1
+3 more
GPathogenic
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(splice donor variant)
Gilbert syndrome
GPathogenic
UGT1A, UGT1A1
+8 more
(M1fs)
Deletion
(frameshift variant +2 more)
Gilbert syndrome
GLikely pathogenic
UGT1A, UGT1A1
+8 more
(E156* +4 more)
Single nucleotide variant
(nonsense)
Gilbert syndrome
GPathogenic
UGT1A, UGT1A1
+8 more
(S303F +4 more)
Single nucleotide variant
(missense variant)
Gilbert syndrome
GLikely pathogenic
UGT1A, UGT1A1
+8 more
(R240K)
Single nucleotide variant
(missense variant +1 more)
Gilbert syndrome
GUncertain significance
UGT1A, UGT1A1
+8 more
(L166fs)
Deletion
(frameshift variant +1 more)
Gilbert syndrome
GPathogenic
UGT1A, UGT1A1
+8 more
(Y67F)
Single nucleotide variant
(missense variant +1 more)
Gilbert syndrome
GUncertain significance
UGT1A, UGT1A1
+8 more
(R338Q +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
(P229L)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
UGT1A, UGT1A1
+8 more
(A61G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
UGT1A, UGT1A1
+8 more
(D356N +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(3 prime UTR variant)
Lucey-Driscoll syndrome
+2 more
GConflicting classifications of pathogenicity
UGT1A10, UGT1A3
+8 more
Single nucleotide variant
(3 prime UTR variant)
Lucey-Driscoll syndrome
+2 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(K515N +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
UGT1A3, UGT1A4
+8 more
Single nucleotide variant
(3 prime UTR variant)
Crigler-Najjar syndrome
+2 more
GUncertain significance
UGT1A4, UGT1A5
+8 more
Single nucleotide variant
(synonymous variant)
Lucey-Driscoll syndrome
+2 more
GUncertain significance
UGT1A5, UGT1A6
+8 more
(A468T +4 more)
Single nucleotide variant
(missense variant)
UGT1A1-related disorder
+3 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(R195K)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
UGT1A9, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant +1 more)
Crigler-Najjar syndrome
+2 more
GUncertain significance
UGT1A1, UGT1A
+8 more
Single nucleotide variant
(3 prime UTR variant)
Crigler-Najjar syndrome
+2 more
GUncertain significance
UGT1A3, UGT1A5
+8 more
Single nucleotide variant
(synonymous variant)
Crigler-Najjar syndrome
+2 more
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(3 prime UTR variant)
Crigler-Najjar syndrome
+2 more
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(3 prime UTR variant)
Gilbert syndrome
+2 more
GUncertain significance
UGT1A1, UGT1A10
+8 more
Single nucleotide variant
(3 prime UTR variant)
Lucey-Driscoll syndrome
+2 more
GUncertain significance
UGT1A1, UGT1A10
+8 more
Single nucleotide variant
(3 prime UTR variant)
Gilbert syndrome
+2 more
GUncertain significance
UGT1A3, UGT1A4
+8 more
(F126L +4 more)
Single nucleotide variant
(missense variant)
Crigler-Najjar syndrome
+2 more
GUncertain significance
UGT1A10, UGT1A7
+8 more
(A121P)
Single nucleotide variant
(missense variant +1 more)
Crigler-Najjar syndrome
+2 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(R9C)
Single nucleotide variant
(missense variant +1 more)
Crigler-Najjar syndrome
+2 more
GUncertain significance
SLCO1B3, SLCO1B3-SLCO1B7
Single nucleotide variant
(intron variant)
Gilbert syndrome
GBenign
SLCO1B3, SLCO1B3-SLCO1B7
Single nucleotide variant
(intron variant)
Gilbert syndrome
GBenign
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(intron variant)
Gilbert syndrome
GBenign
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(intron variant)
irinotecan response - Toxicity
Gdrug response
UGT1A6, UGT1A7
+8 more
(I322V +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
UGT1A10, UGT1A3
+8 more
(Q48E)
Single nucleotide variant
(missense variant +1 more)
Lucey-Driscoll syndrome
+3 more
GUncertain significance
UGT1A5, UGT1A6
+8 more
(E56A)
Single nucleotide variant
(missense variant +1 more)
Lucey-Driscoll syndrome
+3 more
GUncertain significance
UGT1A10, UGT1A3
+8 more
(C280G)
Single nucleotide variant
(missense variant +1 more)
Lucey-Driscoll syndrome
+3 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(I370V +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
UGT1A10, UGT1A5
+8 more
Insertion
(intron variant)
UGT1A1-related disorder
+1 more
GPathogenic; other
UGT1A, UGT1A1
+8 more
(H129R)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
UGT1A5, UGT1A6
+8 more
Single nucleotide variant
(synonymous variant +1 more)
Lucey-Driscoll syndrome
+4 more
GConflicting classifications of pathogenicity
UGT1A, UGT1A4
+8 more
(R403C +4 more)
Single nucleotide variant
(missense variant)
Lucey-Driscoll syndrome
+5 more
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant +1 more)
not specified
+5 more
GLikely benign
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(3 prime UTR variant)
Crigler-Najjar syndrome
+2 more
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(3 prime UTR variant)
Lucey-Driscoll syndrome
+2 more
GBenign/Likely benign
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(3 prime UTR variant)
Lucey-Driscoll syndrome
+2 more
GBenign/Likely benign
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
UGT1A6, UGT1A7
+8 more
Single nucleotide variant
(3 prime UTR variant)
Lucey-Driscoll syndrome
+2 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(M441T +4 more)
Single nucleotide variant
(missense variant)
UGT1A9-related disorder
+4 more
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
Single nucleotide variant
(synonymous variant +1 more)
Crigler-Najjar syndrome
+3 more
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant +1 more)
Lucey-Driscoll syndrome
+4 more
GConflicting classifications of pathogenicity
UGT1A, UGT1A1
+8 more
(A46V)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(V193M)
Single nucleotide variant
(missense variant +1 more)
Crigler-Najjar syndrome
+4 more
GUncertain significance
UGT1A1, UGT1A10
+8 more
(V109A)
Single nucleotide variant
(missense variant +1 more)
UGT1A1-related disorder
+4 more
GConflicting classifications of pathogenicity
UGT1A4, UGT1A5
+8 more
Single nucleotide variant
(synonymous variant +1 more)
Lucey-Driscoll syndrome
+4 more
GConflicting classifications of pathogenicity
UGT1A4, UGT1A5
+8 more
(R367C +4 more)
Single nucleotide variant
(missense variant)
UGT1A1-related disorder
+6 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(R442C +4 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
UGT1A1, UGT1A10
+8 more
(D119fs)
Duplication
(frameshift variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
SLCO1B1
(N130D)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
UGT1A3, UGT1A
+8 more
(P361L +4 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity; other
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
UGT1A9, UGT1A4
+8 more
Single nucleotide variant
(synonymous variant)
Crigler-Najjar syndrome
+3 more
GConflicting classifications of pathogenicity
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
UGT1A, UGT1A1
+8 more
(S250P)
Single nucleotide variant
(missense variant +1 more)
Lucey-Driscoll syndrome
+4 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(V225G)
Single nucleotide variant
(missense variant +1 more)
UGT1A1-related disorder
+6 more
GConflicting classifications of pathogenicity; other
UGT1A, UGT1A1
+8 more
(R108C)
Single nucleotide variant
(missense variant +1 more)
Hyperbilirubinemia
+4 more
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant)
Gilbert syndrome
+4 more
GConflicting classifications of pathogenicity
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
SLCO1B1
(V174A)
Single nucleotide variant
(missense variant)
simvastatin acid response - Metabolism/PK
+14 more
Gdrug response
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(intron variant)
Bilirubin, serum level of, quantitative trait locus 1
+1 more
GBenign; association
UGT1A5, UGT1A6
+8 more
Single nucleotide variant
(intron variant)
UGT1A9-related disorder
+5 more
GConflicting classifications of pathogenicity
UGT1A3, UGT1A9
+8 more
(L15R)
Single nucleotide variant
(missense variant +1 more)
Crigler-Najjar syndrome, type II
+4 more
GLikely pathogenic
UGT1A1, UGT1A7
+8 more
(N400D +4 more)
Single nucleotide variant
(missense variant)
UGT1A1-related disorder
GUncertain significance
UGT1A10, UGT1A3
+8 more
(Y486D +4 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GPathogenic/Likely pathogenic
UGT1A4, UGT1A5
+8 more
(G71R)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity; drug response
UGT1A1, UGT1A
+8 more
Microsatellite
(intron variant)
Irinotecan response
+4 more
GConflicting classifications of pathogenicity; drug response; other
UGT1A6, UGT1A7
+8 more
(P229Q)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity; other
UGT1A, UGT1A1
+8 more
(G309E +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
UGT1A5, UGT1A
+8 more
(R341* +4 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
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