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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TJP2
Duplication
Cholestasis, progressive familial intrahepatic, 4
GPathogenic
TJP2
(D404N +3 more)
Single nucleotide variant
(missense variant)
Cholestasis, progressive familial intrahepatic, 4
+1 more
GLikely pathogenic