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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP8B1
(E665* +1 more)
Single nucleotide variant
(nonsense)
Progressive familial intrahepatic cholestasis
+3 more
GPathogenic
ATP8B1
(I661T +1 more)
Single nucleotide variant
(missense variant)
ATP8B1-related condition
+4 more
GPathogenic/Likely pathogenic
ATP8B1
(D554N +1 more)
Single nucleotide variant
(missense variant)
ATP8B1-related condition
+1 more
GPathogenic
ATP8B1
(G308V +1 more)
Single nucleotide variant
(missense variant)
ATP8B1-related condition
+1 more
GPathogenic
ATP8B1
Single nucleotide variant
(intron variant)
Progressive familial intrahepatic cholestasis type 1
Gnot provided
ATP8B1
(P209T +1 more)
Single nucleotide variant
(missense variant)
Progressive familial intrahepatic cholestasis type 1
Gnot provided
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