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Links from MedGen

Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP8B1
(T196fs +1 more)
Duplication
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 1
GLikely pathogenic
ATP8B1
Single nucleotide variant
(splice donor variant)
Benign recurrent intrahepatic cholestasis type 1
GLikely pathogenic
ATP8B1
(L544* +1 more)
Single nucleotide variant
(nonsense)
Benign recurrent intrahepatic cholestasis type 1
GLikely pathogenic
ATP8B1
(T208fs +1 more)
Deletion
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 1
GLikely pathogenic
ATP8B1
(Y311fs +1 more)
Deletion
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 1
GLikely pathogenic
ATP8B1
(H367fs +1 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ATP8B1, ATP8B1-AS1
(Y930* +1 more)
Single nucleotide variant
(nonsense)
Benign recurrent intrahepatic cholestasis type 1
GLikely pathogenic
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(intron variant)
Benign recurrent intrahepatic cholestasis type 1
GLikely pathogenic
ATP8B1
(W141* +1 more)
Single nucleotide variant
(nonsense)
Benign recurrent intrahepatic cholestasis type 1
GLikely pathogenic
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(splice donor variant)
Benign recurrent intrahepatic cholestasis type 1
+1 more
GPathogenic
ATP8B1, ATP8B1-AS1
(R1114* +1 more)
Single nucleotide variant
(nonsense)
Benign recurrent intrahepatic cholestasis type 1
GPathogenic
ATP8B1
(R221* +1 more)
Single nucleotide variant
(nonsense)
Benign recurrent intrahepatic cholestasis type 1
+1 more
GPathogenic
ATP8B1
(Y355fs +1 more)
Deletion
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 1
GPathogenic
ATP8B1
(N598fs +1 more)
Deletion
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 1
GLikely pathogenic
ATP8B1, ATP8B1-AS1
(V888fs +1 more)
Duplication
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 1
GLikely pathogenic
ATP8B1
Single nucleotide variant
(splice donor variant)
Benign recurrent intrahepatic cholestasis type 1
GLikely pathogenic
ATP8B1
(I644N +1 more)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 1
+1 more
GPathogenic
ATP8B1
(L579fs +1 more)
Deletion
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 1
GLikely pathogenic
ATP8B1
(I261fs +1 more)
Duplication
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 1
GLikely pathogenic
ATP8B1, ATP8B1-AS1
(E931K +1 more)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 1
GPathogenic
ATP8B1
Single nucleotide variant
(splice acceptor variant)
Benign recurrent intrahepatic cholestasis type 1
GLikely pathogenic
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(splice donor variant)
Benign recurrent intrahepatic cholestasis type 1
GPathogenic
ATP8B1, ATP8B1-AS1
(S1044L +1 more)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 1
+1 more
GConflicting classifications of pathogenicity
ATP8B1, ATP8B1-AS1
(F909fs +1 more)
Deletion
(frameshift variant)
Benign recurrent intrahepatic cholestasis type 1
GLikely pathogenic
ATP8B1, ATP8B1-AS1
(V947M +1 more)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 1
+1 more
GLikely pathogenic
ATP8B1, ATP8B1-AS1
(F803S +1 more)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 1
GLikely pathogenic
ATP8B1
(S468* +1 more)
Single nucleotide variant
(nonsense)
Benign recurrent intrahepatic cholestasis type 1
GLikely pathogenic
ATP8B1
(L354fs +1 more)
Microsatellite
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ATP8B1, ATP8B1-AS1
(A672P +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Benign recurrent intrahepatic cholestasis type 1
GUncertain significance
ATP8B1, ATP8B1-AS1
(R884G +1 more)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 1
GLikely pathogenic
ATP8B1
(R550W +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ATP8B1
(G258S +1 more)
Single nucleotide variant
(missense variant)
Progressive familial intrahepatic cholestasis
+1 more
GPathogenic/Likely pathogenic
ATP8B1, ATP8B1-AS1
(R891* +1 more)
Single nucleotide variant
(nonsense)
ATP8B1-related condition
+3 more
GPathogenic
ATP8B1-AS1, ATP8B1
(T838M +1 more)
Single nucleotide variant
(missense variant)
Benign recurrent intrahepatic cholestasis type 1
+1 more
GUncertain significance
ATP8B1
(R581* +1 more)
Single nucleotide variant
(nonsense)
Benign recurrent intrahepatic cholestasis type 1
GPathogenic/Likely pathogenic
ATP8B1, ATP8B1-AS1
(R1014* +1 more)
Single nucleotide variant
(nonsense)
Benign recurrent intrahepatic cholestasis type 1
+1 more
GPathogenic
ATP8B1
(N442S +1 more)
Single nucleotide variant
(missense variant)
ATP8B1-related condition
+1 more
GUncertain significance
ATP8B1
(G197fs +1 more)
Indel
(frameshift variant)
Familial intrahepatic cholestasis type 1
+2 more
GPathogenic
ATP8B1
(F479del +1 more)
Microsatellite
(inframe_deletion)
Benign recurrent intrahepatic cholestasis type 1
+2 more
GPathogenic/Likely pathogenic
ATP8B1, ATP8B1-AS1
Deletion
(nonsense)
Progressive familial intrahepatic cholestasis
+2 more
GConflicting classifications of pathogenicity
ATP8B1, ATP8B1-AS1
(F1165Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP8B1
(R600Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
ATP8B1
(I661V +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(intron variant)
Progressive familial intrahepatic cholestasis type 1
+4 more
GBenign/Likely benign
ATP8B1-AS1, ATP8B1
(R849Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(intron variant)
Progressive familial intrahepatic cholestasis type 1
+4 more
GBenign/Likely benign
ATP8B1
(N45T +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GLikely benign
ATP8B1, ATP8B1-AS1
Single nucleotide variant
(splice acceptor variant)
Benign recurrent intrahepatic cholestasis type 1
+1 more
GPathogenic/Likely pathogenic
ATP8B1
Single nucleotide variant
(synonymous variant +1 more)
Benign recurrent intrahepatic cholestasis type 1
+1 more
GPathogenic
ATP8B1
(K203E +1 more)
Single nucleotide variant
(missense variant)
ATP8B1-related condition
+5 more
GConflicting classifications of pathogenicity
ATP8B1
(E665* +1 more)
Single nucleotide variant
(nonsense)
Progressive familial intrahepatic cholestasis
+3 more
GPathogenic
ATP8B1
(R602* +1 more)
Single nucleotide variant
(nonsense)
Familial intrahepatic cholestasis type 1
+3 more
GPathogenic
ATP8B1
(D70N)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
ATP8B1-AS1, ATP8B1
Single nucleotide variant
(intron variant)
Benign recurrent intrahepatic cholestasis type 1
GPathogenic
ATP8B1, ATP8B1-AS1
Deletion
(inframe_deletion)
Benign recurrent intrahepatic cholestasis type 1
GPathogenic
ATP8B1
(I661T +1 more)
Single nucleotide variant
(missense variant)
ATP8B1-related condition
+4 more
GPathogenic/Likely pathogenic
ATP8B1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
ATP8B1, ATP8B1-AS1
(G892R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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