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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UGT1A, UGT1A1
+8 more
(P229Q)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity; other
UGT1A, UGT1A1
+8 more
(Y486D +4 more)
Single nucleotide variant
(missense variant)
Crigler-Najjar syndrome type 1
+6 more
GPathogenic/Likely pathogenic