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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UGT1A1, UGT1A
+8 more
(L31R)
Single nucleotide variant
(missense variant +1 more)
Crigler-Najjar syndrome type 1
GUncertain significance
UGT1A, UGT1A1
+8 more
(F83L)
Single nucleotide variant
(missense variant +1 more)
Crigler-Najjar syndrome type 1
+1 more
GPathogenic/Likely pathogenic
UGT1A10, UGT1A5
+8 more
(D119fs)
Duplication
(frameshift variant +1 more)
Crigler-Najjar syndrome type 1
+3 more
GPathogenic/Likely pathogenic
UGT1A10, UGT1A3
+8 more
(Y486D +4 more)
Single nucleotide variant
(missense variant)
Crigler-Najjar syndrome type 1
+6 more
GPathogenic/Likely pathogenic
UGT1A1
(V147F +4 more)
Single nucleotide variant
(missense variant)
Crigler-Najjar syndrome type 1
GPathogenic
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