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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB11
(R1226L)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
GLikely pathogenic
ABCB11
(E1223D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCB11
(P731S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ABCB11
(R698H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
ABCB11
Single nucleotide variant
(splice donor variant)
Progressive familial intrahepatic cholestasis
GLikely pathogenic
ABCB11
Single nucleotide variant
(intron variant)
Benign recurrent intrahepatic cholestasis type 2
+4 more
GPathogenic/Likely pathogenic
ABCB11
(E592Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ABCB11
(D590G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCB11
(I541M)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
GLikely pathogenic
ABCB11
(R487H)
Single nucleotide variant
(missense variant)
Progressive familial intrahepatic cholestasis type 2
+4 more
GPathogenic/Likely pathogenic
ABCB11
(E297G)
Single nucleotide variant
(missense variant)
Progressive familial intrahepatic cholestasis type 2
+3 more
GPathogenic
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