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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB4
(A794P)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
+1 more
GLikely pathogenic
ABCB4
(Y328*)
Single nucleotide variant
(nonsense)
Low phospholipid associated cholelithiasis
GPathogenic
ABCB4
(R582W)
Single nucleotide variant
(missense variant)
Low phospholipid associated cholelithiasis
+1 more
GConflicting classifications of pathogenicity
ABCB4
Single nucleotide variant
(splice donor variant)
Low phospholipid associated cholelithiasis
GPathogenic
ABCB4
(N808D)
Single nucleotide variant
(missense variant)
Low phospholipid associated cholelithiasis
GUncertain significance
ABCB4
(S978P +1 more)
Single nucleotide variant
(missense variant)
Low phospholipid associated cholelithiasis
+1 more
GLikely pathogenic
ABCB4
(E1099G +2 more)
Single nucleotide variant
(missense variant)
Progressive familial intrahepatic cholestasis type 3
+4 more
GUncertain significance
ABCB4
(R159*)
Single nucleotide variant
(nonsense)
Low phospholipid associated cholelithiasis
+3 more
GPathogenic
ABCB4
(R1046* +1 more)
Single nucleotide variant
(nonsense)
Progressive familial intrahepatic cholestasis type 3
+3 more
GPathogenic/Likely pathogenic
ABCB4
(L73V)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
+4 more
GUncertain significance
ABCB4, LOC129998757
Single nucleotide variant
(5 prime UTR variant)
Progressive familial intrahepatic cholestasis type 3
+2 more
GUncertain significance
ABCB4
(R47Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ABCB4
(T34M)
Single nucleotide variant
(missense variant)
Cholestasis, intrahepatic, of pregnancy, 3
+5 more
GConflicting classifications of pathogenicity
ABCB4
(P726L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
ABCB4
(R545G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCB4
(R590Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
ABCB4
(Q443fs)
Indel
(frameshift variant)
Cholestasis, intrahepatic, of pregnancy, 3
+1 more
GPathogenic
ABCB4
(P1161S +2 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
ABCB4
(T175A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
ABCB4
(S320F)
Single nucleotide variant
(missense variant)
Progressive familial intrahepatic cholestasis
+3 more
GPathogenic/Likely pathogenic
ABCB4
(R957*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
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