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Links from MedGen

Items: 1 to 100 of 124

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB4
(E616Q)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
GUncertain significance
ABCB4
(G1122E +2 more)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
GLikely pathogenic
ABCB4
(A248P)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
GUncertain significance
ABCB4
(E112*)
Single nucleotide variant
(nonsense)
Cholestasis, intrahepatic, of pregnancy, 3
GLikely pathogenic
ABCB4
(N510D)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
GUncertain significance
ABCB4
(T265S)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
GLikely pathogenic
ABCB4
Single nucleotide variant
(stop lost)
Cholestasis, intrahepatic, of pregnancy, 3
GLikely pathogenic
ABCB4
(A794P)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
+1 more
GLikely pathogenic
ABCB4
(G384V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ABCB4
(I763F)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
+1 more
GUncertain significance
ABCB4
(R582W)
Single nucleotide variant
(missense variant)
Low phospholipid associated cholelithiasis
+1 more
GConflicting classifications of pathogenicity
ABCB4
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ABCB4
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ABCB4
(N721H)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
GUncertain significance
ABCB4
(V233I)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
+2 more
GUncertain significance
ABCB4
(V864A)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
+1 more
GUncertain significance
ABCB4
Single nucleotide variant
(synonymous variant)
Progressive familial intrahepatic cholestasis type 3
+3 more
GConflicting classifications of pathogenicity
ABCB4
(R1232H +2 more)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
+1 more
GUncertain significance
ABCB4
(F269L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ABCB4
Single nucleotide variant
(intron variant)
Cholestasis, intrahepatic, of pregnancy, 3
+1 more
GUncertain significance
ABCB4
(P352L)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
+3 more
GUncertain significance
ABCB4
Single nucleotide variant
(synonymous variant)
Progressive familial intrahepatic cholestasis type 3
+2 more
GConflicting classifications of pathogenicity
ABCB4
(V37L)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
+1 more
GUncertain significance
ABCB4
Single nucleotide variant
(synonymous variant)
Cholestasis, intrahepatic, of pregnancy, 3
+1 more
GUncertain significance
ABCB4
(A426V)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
+1 more
GUncertain significance
ABCB4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCB4
(I738L)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
GUncertain significance
ABCB4
(Q748E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ABCB4
(T775M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ABCB4
(L1110R +2 more)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
+1 more
GUncertain significance
ABCB4
Single nucleotide variant
(synonymous variant)
Cholestasis, intrahepatic, of pregnancy, 3
+1 more
GUncertain significance
ABCB4
Single nucleotide variant
(intron variant)
Progressive familial intrahepatic cholestasis type 3
+3 more
GConflicting classifications of pathogenicity
ABCB4
(V864F)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
+1 more
GUncertain significance
ABCB4
(R1090W +2 more)
Single nucleotide variant
(missense variant)
Progressive familial intrahepatic cholestasis type 3
+1 more
GUncertain significance
ABCB4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCB4
(I1138V +2 more)
Single nucleotide variant
(missense variant)
Progressive familial intrahepatic cholestasis type 3
+1 more
GUncertain significance
ABCB4
(T171A)
Single nucleotide variant
(missense variant)
ABCB4-related condition
+2 more
GUncertain significance
ABCB4
(S339fs)
Duplication
(frameshift variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCB4
Single nucleotide variant
(splice donor variant)
Cholestasis, intrahepatic, of pregnancy, 3
GLikely pathogenic
ABCB4
Single nucleotide variant
(splice acceptor variant)
Cholestasis, intrahepatic, of pregnancy, 3
GLikely pathogenic
ABCB4
(T593M)
Single nucleotide variant
(missense variant)
ABCB4-related condition
GUncertain significance
ABCB4
(A601S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB4
(Y852*)
Single nucleotide variant
(nonsense)
Cholestasis, intrahepatic, of pregnancy, 3
GLikely pathogenic
ABCB4
(Y961fs)
Microsatellite
(frameshift variant +1 more)
Cholestasis, intrahepatic, of pregnancy, 3
GLikely pathogenic
ABCB4
(K1028M +1 more)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
GLikely pathogenic
ABCB4
(S1099fs +2 more)
Duplication
(frameshift variant)
Cholestasis, intrahepatic, of pregnancy, 3
GLikely pathogenic
ABCB4
(Q1132* +2 more)
Single nucleotide variant
(nonsense)
Cholestasis, intrahepatic, of pregnancy, 3
GLikely pathogenic
ABCB4
Deletion
(splice acceptor variant +1 more)
Cholestasis, intrahepatic, of pregnancy, 3
GPathogenic
ABCB4
(R150K)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
GLikely pathogenic
ABCB4
Deletion
(frameshift variant)
Cholestasis, intrahepatic, of pregnancy, 3
GLikely pathogenic
ABCB4
Single nucleotide variant
(splice acceptor variant)
Cholestasis, intrahepatic, of pregnancy, 3
GLikely pathogenic
ABCB4
(N298fs)
Deletion
(frameshift variant)
Cholestasis, intrahepatic, of pregnancy, 3
GLikely pathogenic
ABCB4
(G302D)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
GLikely pathogenic
ABCB11
(I541M)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
GLikely pathogenic
ABCB11
Single nucleotide variant
(splice donor variant)
Progressive familial intrahepatic cholestasis
GLikely pathogenic
ABCB11
(E1223D)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 2
+1 more
GConflicting classifications of pathogenicity
ABCB11
(R1226L)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
GLikely pathogenic
ABCB4
(D682fs)
Deletion
(frameshift variant)
Cholestasis, intrahepatic, of pregnancy, 3
GPathogenic
ABCB4
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ABCB4
(E1099G +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
ABCB11
(E592Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ABCB4
(R159*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
ABCB11
(P731S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ABCB4
(I460F)
Single nucleotide variant
(missense variant)
Progressive familial intrahepatic cholestasis type 3
+2 more
GConflicting classifications of pathogenicity
ABCB4
(T651N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCB4
(T1166M +2 more)
Single nucleotide variant
(missense variant)
Progressive familial intrahepatic cholestasis type 3
+2 more
GUncertain significance
ABCB4
(R1046* +1 more)
Single nucleotide variant
(nonsense)
Progressive familial intrahepatic cholestasis type 3
+3 more
GPathogenic/Likely pathogenic
ABCB4
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ABCB4
(L260P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ABCB4
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
ABCB4
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
ABCB4
(T715I)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
ABCB4
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
ABCB4
(L73V)
Single nucleotide variant
(missense variant)
Low phospholipid associated cholelithiasis
+4 more
GUncertain significance
ABCB4
(R176W)
Single nucleotide variant
(missense variant)
Progressive familial intrahepatic cholestasis
+3 more
GPathogenic/Likely pathogenic
ABCB4, LOC129998757
Single nucleotide variant
(5 prime UTR variant)
Progressive familial intrahepatic cholestasis type 3
+2 more
GUncertain significance
ABCB4, LOC129998756
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
ABCB4
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
ABCB4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCB4
(R595Q)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
+2 more
GUncertain significance
ABCB4
(K620E)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
+1 more
GUncertain significance
ABCB4
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
ABCB4
(G657V)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
+1 more
GUncertain significance
ABCB4
(R661H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ABCB4
(V683M)
Single nucleotide variant
(missense variant)
ABCB4-related condition
+3 more
GConflicting classifications of pathogenicity
ABCB4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCB4
(V713M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ABCB4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCB4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCB4
Single nucleotide variant
(synonymous variant)
ABCB4-related condition
+4 more
GConflicting classifications of pathogenicity
ABCB4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCB11
(D590G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCB4
(N510S)
Single nucleotide variant
(missense variant)
ABCB4-related condition
+6 more
GConflicting classifications of pathogenicity
ABCB11
(R487H)
Single nucleotide variant
(missense variant)
Progressive familial intrahepatic cholestasis
+4 more
GPathogenic/Likely pathogenic
ABCB11
Single nucleotide variant
(intron variant)
Progressive familial intrahepatic cholestasis type 2
+4 more
GPathogenic/Likely pathogenic
ABCB4
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
ABCB4
(A934T)
Single nucleotide variant
(missense variant +1 more)
ABCB4-related condition
+7 more
GConflicting classifications of pathogenicity
ABCB4
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
ABCB4
Single nucleotide variant
(synonymous variant)
Cholestasis, intrahepatic, of pregnancy, 3
+3 more
GBenign
ABCB4
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
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