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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UGT1A, UGT1A1
+8 more
(G276R)
Single nucleotide variant
(missense variant +1 more)
Crigler-Najjar syndrome, type II
GPathogenic
UGT1A, UGT1A1
+8 more
(Y486D +4 more)
Single nucleotide variant
(missense variant)
Crigler-Najjar syndrome, type II
+6 more
GPathogenic/Likely pathogenic
UGT1A, UGT1A1
+8 more
(R255* +4 more)
Single nucleotide variant
(nonsense)
Crigler-Najjar syndrome
+1 more
GUncertain significance
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