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Items: 1 to 100 of 1551

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935011, LOC129935012
+530 more
Copy number gain
See cases
GPathogenic
ABCB11, AGPS
+488 more
Copy number loss
See cases
GPathogenic
LOC129935070, LOC129935071
+162 more
Copy number loss
See cases
GPathogenic
ABCB11, ATF2
+269 more
Copy number loss
See cases
GPathogenic
ABCB11, BBS5
+33 more
Copy number loss
See cases
GUncertain significance
ABCB11
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 2
GUncertain significance
ABCB11
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 2
GUncertain significance
ABCB11
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 2
GUncertain significance
ABCB11
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 2
GUncertain significance
ABCB11
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 2
GLikely benign
ABCB11
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 2
GBenign
ABCB11
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 2
GUncertain significance
ABCB11
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 2
GBenign
ABCB11
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 2
GUncertain significance
ABCB11
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 2
GUncertain significance
ABCB11
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 2
GUncertain significance
ABCB11
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 2
GLikely benign
ABCB11
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
ABCB11
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis
GUncertain significance
ABCB11
Single nucleotide variant
(3 prime UTR variant)
Progressive familial intrahepatic cholestasis type 2
GUncertain significance
ABCB11
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
ABCB11
(S1321T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCB11
(S1321N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
(T1316A)
Single nucleotide variant
(missense variant)
Progressive familial intrahepatic cholestasis type 2
GUncertain significance
ABCB11
(T1316fs)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
(G1308fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
(Q1306R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
(A1305D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
(E1302*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
(T1299fs)
Duplication
(frameshift variant)
not provided
GPathogenic
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
Deletion
(nonsense)
not provided
GPathogenic
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
(G1292E)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
(G1292V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
(I1285N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCB11
Single nucleotide variant
(synonymous variant)
ABCB11-related condition
+1 more
GLikely benign
ABCB11
(A1283V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(synonymous variant)
not specified
GUncertain significance
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
(I1273V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCB11
(I1271N)
Single nucleotide variant
(missense variant)
Progressive familial intrahepatic cholestasis type 2
GLikely pathogenic
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
(T1269I)
Single nucleotide variant
(missense variant)
Progressive familial intrahepatic cholestasis
GUncertain significance
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
(T1269fs)
Deletion
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 2
+1 more
GPathogenic
ABCB11
(R1268Q)
Single nucleotide variant
(missense variant)
Progressive familial intrahepatic cholestasis
+1 more
GPathogenic/Likely pathogenic
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
(R1268W)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ABCB11
(G1267D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
(K1263*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
(L1261P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCB11
(A1260P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCB11
(A1260fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ABCB11
(V1259I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ABCB11
(Q1258*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ABCB11
(V1257fs)
Duplication
(frameshift variant)
not provided
GPathogenic
ABCB11
(T1256M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB11
(T1256R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCB11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
ABCB11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(intron variant)
Progressive familial intrahepatic cholestasis type 2
+2 more
GBenign
ABCB11
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCB11
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCB11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCB11
Duplication
(intron variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB11
(D1243G)
Single nucleotide variant
(missense variant)
Progressive familial intrahepatic cholestasis type 2
GConflicting classifications of pathogenicity
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