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Links from MedGen

Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TJP2
(R19fs +3 more)
Deletion
(frameshift variant)
Cholestasis, progressive familial intrahepatic, 4
GLikely pathogenic
TJP2
(H763L +4 more)
Single nucleotide variant
(missense variant)
Cholestasis, progressive familial intrahepatic, 4
GLikely pathogenic
TJP2
(Q564* +4 more)
Single nucleotide variant
(nonsense)
Cholestasis, progressive familial intrahepatic, 4
GPathogenic
TJP2
Deletion
(splice donor variant)
Cholestasis, progressive familial intrahepatic, 4
GLikely pathogenic
TJP2
(T594A +4 more)
Single nucleotide variant
(missense variant)
Cholestasis, progressive familial intrahepatic, 4
GLikely pathogenic
TJP2
(K705* +4 more)
Single nucleotide variant
(nonsense)
Cholestasis, progressive familial intrahepatic, 4
GLikely pathogenic
TJP2
(Q184* +3 more)
Single nucleotide variant
(nonsense)
Cholestasis, progressive familial intrahepatic, 4
+1 more
GPathogenic/Likely pathogenic
TJP2
Single nucleotide variant
(intron variant)
Cholestasis, progressive familial intrahepatic, 4
GUncertain significance
TJP2
(Q666* +4 more)
Single nucleotide variant
(nonsense)
Cholestasis, progressive familial intrahepatic, 4
GPathogenic
TJP2
(A649S +4 more)
Single nucleotide variant
(missense variant)
Cholestasis, progressive familial intrahepatic, 4
GUncertain significance
TJP2
(M120T +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TJP2
(E1001* +10 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
TJP2
(E1018del +10 more)
Microsatellite
(inframe_deletion)
Cholestasis, progressive familial intrahepatic, 4
GUncertain significance
TJP2
(V858fs +4 more)
Duplication
(frameshift variant)
Cholestasis, progressive familial intrahepatic, 4
GPathogenic
TJP2
(G507R +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TJP2
Deletion
(intron variant)
Cholestasis, progressive familial intrahepatic, 4
+2 more
GBenign
TJP2
Single nucleotide variant
(intron variant)
Hypercholanemia, familial 1
+2 more
GBenign
TJP2
(G669E +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TJP2
(Q363fs +3 more)
Deletion
(frameshift variant)
Cholestasis, progressive familial intrahepatic, 4
GPathogenic
TJP2
(Q819* +4 more)
Single nucleotide variant
(nonsense)
Cholestasis, progressive familial intrahepatic, 4
+1 more
GPathogenic
TJP2
Deletion
(nonsense)
Cholestasis, progressive familial intrahepatic, 4
GPathogenic/Likely pathogenic
TJP2
Single nucleotide variant
(splice donor variant)
Cholestasis, progressive familial intrahepatic, 4
GPathogenic/Likely pathogenic
TJP2
Single nucleotide variant
(splice acceptor variant)
Cholestasis, progressive familial intrahepatic, 4
GPathogenic
TJP2
(R389* +3 more)
Single nucleotide variant
(nonsense)
Cholestasis, progressive familial intrahepatic, 4
GPathogenic
TJP2
(R700* +4 more)
Single nucleotide variant
(nonsense)
Cholestasis, progressive familial intrahepatic, 4
GPathogenic
TJP2
Single nucleotide variant
(splice acceptor variant)
Cholestasis, progressive familial intrahepatic, 4
GPathogenic
TJP2
Single nucleotide variant
(intron variant)
Cholestasis, progressive familial intrahepatic, 4
GLikely pathogenic
TJP2
(S408* +3 more)
Single nucleotide variant
(nonsense)
Cholestasis, progressive familial intrahepatic, 4
GPathogenic
TJP2
(R1001* +4 more)
Single nucleotide variant
(nonsense +1 more)
Cholestasis, progressive familial intrahepatic, 4
GPathogenic
TJP2
(G712S +4 more)
Single nucleotide variant
(missense variant)
Cholestasis, progressive familial intrahepatic, 4
+1 more
GPathogenic/Likely pathogenic
TJP2
Single nucleotide variant
(splice acceptor variant)
Cholestasis, progressive familial intrahepatic, 4
GPathogenic
TJP2
(L500S +4 more)
Single nucleotide variant
(missense variant)
Cholestasis, progressive familial intrahepatic, 4
GLikely pathogenic
TJP2
(L110R +3 more)
Single nucleotide variant
(missense variant)
Cholestasis, progressive familial intrahepatic, 4
GLikely pathogenic
TJP2
(R334* +3 more)
Single nucleotide variant
(nonsense)
Cholestasis, progressive familial intrahepatic, 4
GLikely pathogenic
TJP2
(R632* +4 more)
Single nucleotide variant
(nonsense)
Cholestasis, progressive familial intrahepatic, 4
+1 more
GPathogenic
TJP2
(A526S +4 more)
Single nucleotide variant
(missense variant)
Hypercholanemia, familial 1
+2 more
GUncertain significance
TJP2
(L791P +4 more)
Single nucleotide variant
(missense variant)
Cholestasis, progressive familial intrahepatic, 4
+1 more
GConflicting classifications of pathogenicity
TJP2
(T1131M +10 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
TJP2
(A544V +4 more)
Single nucleotide variant
(missense variant)
Cholestasis, progressive familial intrahepatic, 4
+2 more
GUncertain significance
TJP2
(Y238fs +3 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
TJP2
Single nucleotide variant
(splice donor variant)
TJP2-related disorder
+3 more
GLikely pathogenic
TJP2
(A250fs +3 more)
Microsatellite
(frameshift variant)
Cholestasis, progressive familial intrahepatic, 4
GPathogenic
TJP2
Duplication
Cholestasis, progressive familial intrahepatic, 4
GPathogenic
TJP2
(D404N +3 more)
Single nucleotide variant
(missense variant)
Cholestasis, progressive familial intrahepatic, 4
+1 more
GLikely pathogenic
TJP2
(S392fs +3 more)
Deletion
(frameshift variant)
Cholestasis, progressive familial intrahepatic, 4
GPathogenic
TJP2
(T1124M +10 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TJP2
(A931T +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
TJP2
(A1023V +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TJP2
(S192fs +3 more)
Duplication
(frameshift variant)
not provided
GPathogenic
TJP2
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
TJP2
(A250fs +3 more)
Deletion
(frameshift variant)
not provided
GPathogenic
TJP2
(N789fs +4 more)
Duplication
(frameshift variant)
Cholestasis, progressive familial intrahepatic, 4
GPathogenic
TJP2
Single nucleotide variant
(splice acceptor variant +1 more)
Cholestasis, progressive familial intrahepatic, 4
GPathogenic
TJP2
Deletion
Cholestasis, progressive familial intrahepatic, 4
GPathogenic
TJP2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
TJP2
Single nucleotide variant
(intron variant)
Hypercholanemia, familial 1
+2 more
GLikely benign
TJP2
(I382del +3 more)
Deletion
(inframe_deletion)
Nonsyndromic Hearing Loss, Dominant
+4 more
GConflicting classifications of pathogenicity
TJP2
(R397C +3 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TJP2
(R1016Q +10 more)
Single nucleotide variant
(missense variant)
Hypercholanemia, familial 1
+2 more
GUncertain significance
TJP2
(T39M +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TJP2
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
TJP2
(A454fs +4 more)
Deletion
(frameshift variant)
Hypercholanemia, familial 1
GPathogenic
TJP2
(S273fs +3 more)
Deletion
(frameshift variant)
Cholestasis, progressive familial intrahepatic, 4
GPathogenic
TJP2
(A260fs +3 more)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TJP2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
TJP2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign
TJP2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign
TJP2
(D482E +4 more)
Single nucleotide variant
(missense variant)
Cholestasis, progressive familial intrahepatic, 4
+3 more
GBenign
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