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Links from MedGen

Items: 1 to 100 of 157

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB11
(Q1196*)
Single nucleotide variant
(nonsense)
Benign recurrent intrahepatic cholestasis type 2
GPathogenic
ABCB11
(D88V)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(Q1107fs)
Deletion
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(D215fs)
Deletion
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(Q662*)
Single nucleotide variant
(nonsense)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(Y981*)
Single nucleotide variant
(nonsense)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11, LOC126806400
(V950fs)
Duplication
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(Q222fs)
Deletion
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
Single nucleotide variant
(splice acceptor variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(L50S)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
Single nucleotide variant
(splice acceptor variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11, LOC126806400
(G952R)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 2
GUncertain significance
ABCB11
(R44fs)
Microsatellite
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 2
+1 more
GPathogenic
ABCB11
(E1186G)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 2
GUncertain significance
ABCB11
(H717fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ABCB11
Single nucleotide variant
(synonymous variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11, LOC126806400
(S901I)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
ABCB11
(A570V)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(F971fs)
Deletion
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(Y145*)
Single nucleotide variant
(nonsense)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(Q1075fs)
Deletion
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(Y145fs)
Duplication
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(L131*)
Single nucleotide variant
(nonsense)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(G296fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ABCB11
Single nucleotide variant
(splice donor variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
Single nucleotide variant
(splice acceptor variant)
Benign recurrent intrahepatic cholestasis type 2
GPathogenic
ABCB11, LOC126806400
Single nucleotide variant
(splice acceptor variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(G761fs)
Deletion
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCB11
(W163*)
Single nucleotide variant
(nonsense)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(Q563*)
Single nucleotide variant
(nonsense)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
Single nucleotide variant
(splice donor variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(W189*)
Single nucleotide variant
(nonsense)
Benign recurrent intrahepatic cholestasis type 2
GPathogenic
ABCB11, LOC126806400
(F896fs)
Deletion
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(G344fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ABCB11
(G260D)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 2
GPathogenic
ABCB11
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
ABCB11
(Y772*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ABCB11
(F266fs)
Deletion
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(G238V)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(A693P)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(T463I)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(Q361*)
Single nucleotide variant
(nonsense)
Benign recurrent intrahepatic cholestasis type 2
GPathogenic
ABCB11
(D848fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
ABCB11
(F811fs)
Deletion
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(Q546*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
ABCB11
(L61fs)
Duplication
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(G562D)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(S22*)
Single nucleotide variant
(nonsense)
Benign recurrent intrahepatic cholestasis type 2
+1 more
GPathogenic/Likely pathogenic
ABCB11
(D496V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ABCB11
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
ABCB11
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
ABCB11
(F508S)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 2
GUncertain significance
ABCB11
(R387H)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ABCB11
(R696W)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ABCB11
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic
ABCB11
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
ABCB11
(E636G)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 2
+1 more
GLikely pathogenic
ABCB11
(I320fs)
Deletion
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 2
+2 more
GPathogenic/Likely pathogenic
ABCB11
(G648fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
ABCB11
(A167T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
ABCB11
(S226L)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 2
+3 more
GConflicting classifications of pathogenicity
ABCB11
(R415*)
Single nucleotide variant
(nonsense)
Progressive familial intrahepatic cholestasis type 2
+2 more
GPathogenic
ABCB11
(I541L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ABCB11
(T1269fs)
Deletion
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 2
+1 more
GPathogenic
ABCB11
(R1235*)
Single nucleotide variant
(nonsense)
Progressive familial intrahepatic cholestasis type 2
+2 more
GPathogenic
ABCB11
(Y472C)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 2
+1 more
GPathogenic/Likely pathogenic
ABCB11
(V454G)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 2
GUncertain significance
ABCB11
(G1292E)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(P378fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GLikely pathogenic
ABCB11
(E21K)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 2
+2 more
GConflicting classifications of pathogenicity
ABCB11
Single nucleotide variant
(intron variant)
Benign recurrent intrahepatic cholestasis type 2
+2 more
GBenign
ABCB11
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ABCB11
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ABCB11
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ABCB11
Single nucleotide variant
(intron variant)
Benign recurrent intrahepatic cholestasis type 2
+2 more
GBenign
ABCB11
Single nucleotide variant
(intron variant)
Progressive familial intrahepatic cholestasis type 2
+2 more
GBenign
ABCB11
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
ABCB11
(R1153H)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 2
+2 more
GPathogenic/Likely pathogenic
ABCB11
(V1164fs)
Deletion
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 2
+1 more
GPathogenic
ABCB11
(Q1258*)
Single nucleotide variant
(nonsense)
Benign recurrent intrahepatic cholestasis type 2
+2 more
GPathogenic/Likely pathogenic
ABCB11
(G477*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
ABCB11
(F774fs)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ABCB11
(R830fs)
Deletion
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 2
GPathogenic
ABCB11
(N424T)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 2
+1 more
GUncertain significance
ABCB11
(R1231W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ABCB11
(R470Q)
Single nucleotide variant
(missense variant)
Progressive familial intrahepatic cholestasis
+2 more
GPathogenic
ABCB11
(I498T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ABCB11
(Y772*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
ABCB11
(T1210P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ABCB11
(N490D)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
ABCB11
(E1223D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCB11
(R1128C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
ABCB11
(R517H)
Single nucleotide variant
(missense variant)
Progressive familial intrahepatic cholestasis
+2 more
GPathogenic/Likely pathogenic
ABCB11
(A151T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ABCB11, LOC126806400
(R948C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ABCB11
(R1226C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCB11
(E592Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ABCB11
Single nucleotide variant
(splice donor variant)
Benign recurrent intrahepatic cholestasis type 2
+2 more
GPathogenic
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