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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UGT1A3, UGT1A9
+8 more
(L15R)
Single nucleotide variant
(missense variant +1 more)
Crigler-Najjar syndrome, type II
+4 more
GLikely pathogenic
UGT1A, UGT1A1
+8 more
(Y74*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
UGT1A, UGT1A1
+8 more
(V225G)
Single nucleotide variant
(missense variant +1 more)
UGT1A1-related condition
+6 more
GConflicting classifications of pathogenicity; other
UGT1A5, UGT1A
+8 more
(K139fs +4 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
UGT1A5, UGT1A6
+8 more
(R255* +4 more)
Single nucleotide variant
(nonsense)
Crigler-Najjar syndrome, type II
+1 more
GUncertain significance
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