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Links from MedGen

Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UGT1A, UGT1A1
+8 more
(G127V +4 more)
Single nucleotide variant
(missense variant)
Crigler-Najjar syndrome
GPathogenic
UGT1A, UGT1A1
+8 more
(V118F +4 more)
Single nucleotide variant
(missense variant)
Crigler-Najjar syndrome
GPathogenic
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(3 prime UTR variant)
Lucey-Driscoll syndrome
+2 more
GConflicting classifications of pathogenicity
UGT1A, UGT1A1
+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)
Crigler-Najjar syndrome
+3 more
GUncertain significance
UGT1A8, UGT1A
+8 more
Single nucleotide variant
(3 prime UTR variant)
Lucey-Driscoll syndrome
+2 more
GUncertain significance
UGT1A10, UGT1A3
+8 more
Single nucleotide variant
(synonymous variant)
Crigler-Najjar syndrome
+2 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(A468T +4 more)
Single nucleotide variant
(missense variant)
Crigler-Najjar syndrome
+2 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(R195K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GUncertain significance
UGT1A8, UGT1A5
+8 more
Single nucleotide variant
(synonymous variant +1 more)
Lucey-Driscoll syndrome
+2 more
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(3 prime UTR variant)
Lucey-Driscoll syndrome
+2 more
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant)
Lucey-Driscoll syndrome
+2 more
GUncertain significance
UGT1A8, UGT1A9
+8 more
Single nucleotide variant
(3 prime UTR variant)
Lucey-Driscoll syndrome
+2 more
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(3 prime UTR variant)
Gilbert syndrome
+2 more
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(3 prime UTR variant)
Gilbert syndrome
+2 more
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(3 prime UTR variant)
Gilbert syndrome
+2 more
GUncertain significance
UGT1A10, UGT1A3
+8 more
(F126L +4 more)
Single nucleotide variant
(missense variant)
Lucey-Driscoll syndrome
+2 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(A121P)
Single nucleotide variant
(missense variant +1 more)
Lucey-Driscoll syndrome
+2 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(R9C)
Single nucleotide variant
(missense variant +1 more)
Lucey-Driscoll syndrome
+2 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(I322V +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
UGT1A, UGT1A1
+8 more
(Q48E)
Single nucleotide variant
(missense variant +1 more)
Lucey-Driscoll syndrome
+3 more
GUncertain significance
UGT1A6, UGT1A5
+8 more
(E56A)
Single nucleotide variant
(missense variant +1 more)
Gilbert syndrome
+3 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(C280G)
Single nucleotide variant
(missense variant +1 more)
Lucey-Driscoll syndrome
+3 more
GUncertain significance
UGT1A1, UGT1A10
+8 more
(H129R)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(R255* +4 more)
Single nucleotide variant
(nonsense)
Crigler-Najjar syndrome
+1 more
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant +1 more)
Gilbert syndrome
+3 more
GConflicting classifications of pathogenicity
UGT1A1, UGT1A10
+8 more
(R336W +4 more)
Single nucleotide variant
(missense variant)
Crigler-Najjar syndrome
+1 more
GPathogenic
UGT1A, UGT1A1
+8 more
(R209W)
Single nucleotide variant
(missense variant +1 more)
Crigler-Najjar syndrome, type II
+4 more
GPathogenic/Likely pathogenic
UGT1A, UGT1A1
+8 more
(Y74*)
Single nucleotide variant
(nonsense +1 more)
Crigler-Najjar syndrome
+1 more
GPathogenic
UGT1A, UGT1A1
+8 more
(R209fs)
Duplication
(frameshift variant +1 more)
Crigler-Najjar syndrome
+1 more
GPathogenic
UGT1A, UGT1A1
+8 more
Deletion
(inframe_indel +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
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)
Crigler-Najjar syndrome
+2 more
GBenign/Likely benign
UGT1A3, UGT1A4
+8 more
Single nucleotide variant
(3 prime UTR variant)
Gilbert syndrome
+2 more
GBenign/Likely benign
UGT1A4, UGT1A5
+8 more
Single nucleotide variant
(3 prime UTR variant)
Crigler-Najjar syndrome
+3 more
GBenign/Likely benign
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(3 prime UTR variant)
Crigler-Najjar syndrome
+2 more
GUncertain significance
UGT1A6, UGT1A7
+8 more
(M441T +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant +1 more)
Crigler-Najjar syndrome
+3 more
GConflicting classifications of pathogenicity
UGT1A6, UGT1A7
+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)
not provided
+3 more
GConflicting classifications of pathogenicity
UGT1A3, UGT1A
+8 more
(V193M)
Single nucleotide variant
(missense variant +1 more)
Lucey-Driscoll syndrome
+4 more
GUncertain significance
UGT1A, UGT1A1
+8 more
(V109A)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
UGT1A4, UGT1A5
+8 more
Single nucleotide variant
(synonymous variant +1 more)
Gilbert syndrome
+4 more
GConflicting classifications of pathogenicity
UGT1A9, UGT1A
+8 more
(R442C +4 more)
Single nucleotide variant
(missense variant)
Lucey-Driscoll syndrome
+6 more
GUncertain significance
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant)
Gilbert syndrome
+3 more
GConflicting classifications of pathogenicity
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(intron variant)
Hyperbilirubinemia
+4 more
GConflicting classifications of pathogenicity
UGT1A10, UGT1A3
+8 more
(S250P)
Single nucleotide variant
(missense variant +1 more)
Crigler-Najjar syndrome
+4 more
GUncertain significance
UGT1A7, UGT1A8
+8 more
(V225G)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity; other
UGT1A, UGT1A1
+8 more
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
UGT1A5, UGT1A6
+8 more
Single nucleotide variant
(synonymous variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
UGT1A10, UGT1A3
+8 more
(S376F +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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