ClinVar for MedGen (Select 418976) - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062313	NM_004817.4(TJP2):c.2363A>T (p.His788Leu)	TJP2 (H763L +4 more)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 4	GLikely pathogenic
Select item 2687826	NM_004817.4(TJP2):c.1765C>T (p.Gln589Ter)	TJP2 (Q564* +4 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 2687825	NM_004817.4(TJP2):c.1517_1520+8del	TJP2	Deletion (splice donor variant)	Cholestasis, progressive familial intrahepatic, 4	GLikely pathogenic
Select item 2687824	NM_004817.4(TJP2):c.1855A>G (p.Thr619Ala)	TJP2 (T594A +4 more)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 4	GLikely pathogenic
Select item 2627415	NM_004817.4(TJP2):c.2188A>T (p.Lys730Ter)	TJP2 (K705* +4 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 4	GLikely pathogenic
Select item 1965615	NM_004817.4(TJP2):c.619C>T (p.Gln207Ter)	TJP2 (Q184* +3 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 4 +1 more	GPathogenic/Likely pathogenic
Select item 1806010	NM_004817.4(TJP2):c.2667+3A>G	TJP2	Single nucleotide variant (intron variant)	Cholestasis, progressive familial intrahepatic, 4	GUncertain significance
Select item 1705691	NM_004817.4(TJP2):c.2071C>T (p.Gln691Ter)	TJP2 (Q666* +4 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 1702949	NM_004817.4(TJP2):c.2020G>T (p.Ala674Ser)	TJP2 (A649S +4 more)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 4	GUncertain significance
Select item 1698755	NM_004817.4(TJP2):c.428T>C (p.Met143Thr)	TJP2 (M120T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1323690	NM_004817.4(TJP2):c.3325G>T (p.Glu1109Ter)	TJP2 (E1001* +10 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1299396	NM_004817.4(TJP2):c.3484GAG[3] (p.Glu1165del)	TJP2 (E1018del +10 more)	Microsatellite (inframe_deletion)	Cholestasis, progressive familial intrahepatic, 4	GUncertain significance
Select item 1285612	NM_004817.4(TJP2):c.2645_2646dup (p.Val883fs)	TJP2 (V858fs +4 more)	Duplication (frameshift variant)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 1285611	NM_004817.4(TJP2):c.1594G>A (p.Gly532Arg)	TJP2 (G507R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1281420	NM_004817.4(TJP2):c.1672-27del	TJP2	Deletion (intron variant)	Cholestasis, progressive familial intrahepatic, 4 +2 more	GBenign
Select item 1235422	NM_004817.4(TJP2):c.2180-34G>A	TJP2	Single nucleotide variant (intron variant)	Hypercholanemia, familial 1 +2 more	GBenign
Select item 1213131	NM_004817.4(TJP2):c.2081G>A (p.Gly694Glu)	TJP2 (G669E +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1199419	NM_004817.4(TJP2):c.1157del (p.Gln386fs)	TJP2 (Q363fs +3 more)	Deletion (frameshift variant)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 1030844	NM_004817.4(TJP2):c.2524C>T (p.Gln842Ter)	TJP2 (Q819* +4 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 4 +1 more	GPathogenic
Select item 973544	NM_004817.4(TJP2):c.2327del (p.Arg775_Leu776insTer)	TJP2	Deletion (nonsense)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic/Likely pathogenic
Select item 973543	NM_004817.4(TJP2):c.239+1G>A	TJP2	Single nucleotide variant (splice donor variant)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic/Likely pathogenic
Select item 805845	NM_004817.4(TJP2):c.115-2A>C	TJP2	Single nucleotide variant (splice acceptor variant)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 805844	NM_004817.4(TJP2):c.1234C>T (p.Arg412Ter)	TJP2 (R389* +3 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 805843	NM_004817.4(TJP2):c.2173C>T (p.Arg725Ter)	TJP2 (R700* +4 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 805842	NM_004817.4(TJP2):c.115-1G>A	TJP2	Single nucleotide variant (splice acceptor variant)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 805841	NM_004817.4(TJP2):c.2180-5T>G	TJP2	Single nucleotide variant (intron variant)	Cholestasis, progressive familial intrahepatic, 4	GLikely pathogenic
Select item 805840	NM_004817.4(TJP2):c.1292C>G (p.Ser431Ter)	TJP2 (S408* +3 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 805839	NM_004817.4(TJP2):c.2908C>T (p.Arg970Ter)	TJP2 (R1001* +4 more)	Single nucleotide variant (nonsense +1 more)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 805838	NM_004817.4(TJP2):c.2209G>A (p.Gly737Ser)	TJP2 (G712S +4 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome +1 more	GPathogenic/Likely pathogenic
Select item 805837	NM_004817.4(TJP2):c.1672-1G>A	TJP2	Single nucleotide variant (splice acceptor variant)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 805836	NM_004817.4(TJP2):c.1574T>C (p.Leu525Ser)	TJP2 (L500S +4 more)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 4	GLikely pathogenic
Select item 805835	NM_004817.4(TJP2):c.236T>G (p.Leu79Arg)	TJP2 (L110R +3 more)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 4	GLikely pathogenic
Select item 694274	NM_004817.4(TJP2):c.1000C>T (p.Arg334Ter)	TJP2 (R334* +3 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 4	GLikely pathogenic
Select item 632045	NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter)	TJP2 (R632* +4 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 4 +1 more	GPathogenic
Select item 597158	NM_004817.4(TJP2):c.1576G>T (p.Ala526Ser)	TJP2 (A526S +4 more)	Single nucleotide variant (missense variant)	Hypercholanemia, familial 1 +2 more	GUncertain significance
Select item 594511	NM_004817.4(TJP2):c.2372T>C (p.Leu791Pro)	TJP2 (L791P +4 more)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 4 +1 more	GConflicting classifications of pathogenicity
Select item 502567	NM_004817.4(TJP2):c.3392C>T (p.Thr1131Met)	TJP2 (T1131M +10 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 499940	NM_004817.4(TJP2):c.1631C>T (p.Ala544Val)	TJP2 (A544V +4 more)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 4 +2 more	GUncertain significance
Select item 499233	NM_004817.4(TJP2):c.782del (p.Tyr261fs)	TJP2 (Y238fs +3 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 489223	NM_004817.4(TJP2):c.1056+2T>C	TJP2	Single nucleotide variant (splice donor variant)	TJP2-related condition +3 more	GLikely pathogenic
Select item 438788	NM_004817.4(TJP2):c.813_814del (p.Ala273fs)	TJP2 (A250fs +3 more)	Microsatellite (frameshift variant)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 397506	NC_000009.11:g.(71833276_71835802)_(71855064_71861605)dup	TJP2	Duplication	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 397505	NM_004817.4(TJP2):c.1210G>A (p.Asp404Asn)	TJP2 (D404N +3 more)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 4 +1 more	GLikely pathogenic
Select item 374295	NM_004817.4(TJP2):c.1243del (p.Ser415fs)	TJP2 (S392fs +3 more)	Deletion (frameshift variant)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 367235	NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met)	TJP2 (T1124M +10 more)	Single nucleotide variant (missense variant)	TJP2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 289878	NM_004817.4(TJP2):c.2791G>A (p.Ala931Thr)	TJP2 (A931T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 281732	NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val)	TJP2 (A1023V +7 more)	Single nucleotide variant (missense variant +1 more)	TJP2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 280808	NM_004817.4(TJP2):c.570_574dup (p.Ser192fs)	TJP2 (S192fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 259554	NM_004817.4(TJP2):c.2992-19G>A	TJP2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 219197	NM_004817.4(TJP2):c.817del (p.Ala273fs)	TJP2 (A250fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 219196	NM_004817.4(TJP2):c.2438dup (p.Asn814fs)	TJP2 (N789fs +4 more)	Duplication (frameshift variant)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 219195	NM_004817.4(TJP2):c.2668-1G>T	TJP2	Single nucleotide variant (splice acceptor variant +1 more)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 217498	NM_004817.3(TJP2):c.3408_3573del166 (p.Ser1136Argfs)	TJP2	Deletion	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 196398	NM_004817.4(TJP2):c.239+19T>C	TJP2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 180018	NM_004817.4(TJP2):c.3407+3A>G	TJP2	Single nucleotide variant (intron variant)	Hypercholanemia, familial 1 +2 more	GLikely benign
Select item 178813	NM_004817.4(TJP2):c.1213_1215del (p.Ile405del)	TJP2 (I382del +3 more)	Deletion (inframe_deletion)	Nonsyndromic Hearing Loss, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 178543	NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys)	TJP2 (R397C +3 more)	Single nucleotide variant (missense variant)	TJP2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 165427	NM_004817.4(TJP2):c.3557G>A (p.Arg1186Gln)	TJP2 (R1016Q +10 more)	Single nucleotide variant (missense variant)	Hypercholanemia, familial 1 +2 more	GUncertain significance
Select item 165403	NM_004817.4(TJP2):c.185C>T (p.Thr62Met)	TJP2 (T39M +3 more)	Single nucleotide variant (missense variant)	TJP2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 139630	NM_004817.4(TJP2):c.1992-2A>G	TJP2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 139629	NM_004817.4(TJP2):c.1361del (p.Ala454fs)	TJP2 (A454fs +4 more)	Deletion (frameshift variant)	Hypercholanemia, familial 1	GPathogenic
Select item 139628	NM_004817.4(TJP2):c.885del (p.Ser296fs)	TJP2 (S273fs +3 more)	Deletion (frameshift variant)	Cholestasis, progressive familial intrahepatic, 4	GPathogenic
Select item 139627	NM_004817.4(TJP2):c.766_769del (p.Ala256fs)	TJP2 (A260fs +3 more)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 45109	NM_004817.4(TJP2):c.2992-8C>T	TJP2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 44106	NM_004817.4(TJP2):c.2727G>A (p.Ala909=)	TJP2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 44105	NM_004817.4(TJP2):c.2715C>T (p.Thr905=)	TJP2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 44091	NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu)	TJP2 (D482E +4 more)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 4 +3 more	GBenign

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Items: 67