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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TJP2
(R277K +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TJP2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TJP2
(Q666* +4 more)
Single nucleotide variant
(nonsense)
Cholestasis, progressive familial intrahepatic, 4
GPathogenic
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