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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB4
(T34M)
Single nucleotide variant
(missense variant)
ABCB4-related condition
+5 more
GConflicting classifications of pathogenicity
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(intron variant)
Progressive familial intrahepatic cholestasis type 1
+4 more
GBenign/Likely benign
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(intron variant)
Progressive familial intrahepatic cholestasis type 1
+4 more
GBenign/Likely benign
ATP8B1-AS1, ATP8B1
(R849Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATP8B1
(I661V +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATP8B1
(K203E +1 more)
Single nucleotide variant
(missense variant)
ATP8B1-related condition
+5 more
GConflicting classifications of pathogenicity
ATP8B1
(N45T +1 more)
Single nucleotide variant
(missense variant)
Progressive familial intrahepatic cholestasis type 1
+4 more
GLikely benign
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