U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB4
(R969H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCB4
(E898K)
Single nucleotide variant
(missense variant)
Progressive familial intrahepatic cholestasis type 3
GPathogenic/Likely pathogenic