ClinVar for MedGen (Select 418976) - ClinVar

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Items: 59

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18060101.	NM_004817.4(TJP2):c.2667+3A>G GRCh37: Chr9:71861709 GRCh38: Chr9:69246793	TJP2		Cholestasis, progressive familial intrahepatic, 4	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 17056912.	NM_004817.4(TJP2):c.2071C>T (p.Gln691Ter) GRCh37: Chr9:71851944 GRCh38: Chr9:69237028	TJP2	Q666, Q668, Q691, Q695, Q722*	Cholestasis, progressive familial intrahepatic, 4	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 17029493.	NM_004817.4(TJP2):c.2020G>T (p.Ala674Ser) GRCh37: Chr9:71851893 GRCh38: Chr9:69236977	TJP2	A649S, A651S, A674S, A678S, A705S	Cholestasis, progressive familial intrahepatic, 4	Uncertain significance (Aug 25, 2022)	criteria provided, single submitter
Select item 16987554.	NM_004817.4(TJP2):c.428T>C (p.Met143Thr) GRCh37: Chr9:71835888 GRCh38: Chr9:69220972	TJP2	M120T, M143T, M147T, M174T	Cholestasis, progressive familial intrahepatic, 4, not provided	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13236905.	NM_004817.4(TJP2):c.3325G>T (p.Glu1109Ter) GRCh37: Chr9:71867734 GRCh38: Chr9:69252818	TJP2	E1001, E1072, E1076, E1084, E1086, E1109, E1113, E1140, E939, E962, E966*	not provided, Cholestasis, progressive familial intrahepatic, 4	Pathogenic (Oct 19, 2020)	criteria provided, multiple submitters, no conflicts
Select item 12993966.	NM_004817.4(TJP2):c.3484GAG[3] (p.Glu1165del) GRCh37: Chr9:71869201-71869203 GRCh38: Chr9:69254285-69254287	TJP2	E1018del, E1022del, E1057del, E1128del, E1132del, E1140del, E1142del, E1165del, E1169del, E1196del, E995del	Cholestasis, progressive familial intrahepatic, 4	Uncertain significance (May 18, 2021)	criteria provided, single submitter
Select item 12856127.	NM_004817.4(TJP2):c.2645_2646dup (p.Val883fs) GRCh37: Chr9:71861682-71861683 GRCh38: Chr9:69246766-69246767	TJP2	V858fs, V860fs, V883fs, V887fs, V914fs	Cholestasis, progressive familial intrahepatic, 4	Pathogenic	no assertion criteria provided
Select item 12856118.	NM_004817.4(TJP2):c.1594G>A (p.Gly532Arg) GRCh37: Chr9:71845071 GRCh38: Chr9:69230155	TJP2	G507R, G509R, G532R, G536R, G563R	not provided	Uncertain significance (Dec 6, 2022)	criteria provided, single submitter
Select item 12814209.	NM_004817.4(TJP2):c.1672-27del GRCh37: Chr9:71849315 GRCh38: Chr9:69234399	TJP2		not provided, Cholestasis, progressive familial intrahepatic, 4, Hypercholanemia, familial 1	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 123542210.	NM_004817.4(TJP2):c.2180-34G>A GRCh37: Chr9:71852760 GRCh38: Chr9:69237844	TJP2		Cholestasis, progressive familial intrahepatic, 4, not provided, Hypercholanemia, familial 1	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 121313111.	NM_004817.4(TJP2):c.2081G>A (p.Gly694Glu) GRCh37: Chr9:71851954 GRCh38: Chr9:69237038	TJP2	G669E, G671E, G694E, G698E, G725E	Cholestasis, progressive familial intrahepatic, 4, Hypercholanemia, familial 1, not provided	Conflicting interpretations of pathogenicity (Nov 23, 2022)	criteria provided, conflicting interpretations
Select item 119941912.	NM_004817.4(TJP2):c.1157del (p.Gln386fs) GRCh37: Chr9:71841038 GRCh38: Chr9:69226122	TJP2	Q363fs, Q386fs, Q390fs, Q417fs	Cholestasis, progressive familial intrahepatic, 4	Pathogenic	no assertion criteria provided
Select item 103084413.	NM_004817.4(TJP2):c.2524C>T (p.Gln842Ter) GRCh37: Chr9:71855021 GRCh38: Chr9:69240105	TJP2	Q819, Q817, Q842, Q846, Q873*	not provided, Cholestasis, progressive familial intrahepatic, 4	Pathogenic (Apr 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 97354414.	NM_004817.4(TJP2):c.2327del (p.Arg775_Leu776insTer) GRCh37: Chr9:71853676 GRCh38: Chr9:69238760	TJP2		Cholestasis, progressive familial intrahepatic, 4	Likely pathogenic	criteria provided, single submitter
Select item 97354315.	NM_004817.4(TJP2):c.239+1G>A GRCh37: Chr9:71831380 GRCh38: Chr9:69216464	TJP2		Cholestasis, progressive familial intrahepatic, 4	Likely pathogenic	criteria provided, single submitter
Select item 80584516.	NM_004817.4(TJP2):c.115-2A>C GRCh37: Chr9:71831253 GRCh38: Chr9:69216337	TJP2		Cholestasis, progressive familial intrahepatic, 4	Pathogenic (Oct 15, 2019)	criteria provided, single submitter
Select item 80584417.	NM_004817.4(TJP2):c.1234C>T (p.Arg412Ter) GRCh37: Chr9:71842704 GRCh38: Chr9:69227788	TJP2	R389, R412, R416, R443	Cholestasis, progressive familial intrahepatic, 4	Pathogenic (Jul 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80584318.	NM_004817.4(TJP2):c.2173C>T (p.Arg725Ter) GRCh37: Chr9:71852046 GRCh38: Chr9:69237130	TJP2	R700, R702, R725, R729, R756*	Cholestasis, progressive familial intrahepatic, 4	Pathogenic (Oct 15, 2019)	criteria provided, single submitter
Select item 80584219.	NM_004817.4(TJP2):c.115-1G>A GRCh37: Chr9:71831254 GRCh38: Chr9:69216338	TJP2		Cholestasis, progressive familial intrahepatic, 4	Pathogenic (Oct 15, 2019)	criteria provided, single submitter
Select item 80584120.	NM_004817.4(TJP2):c.2180-5T>G GRCh37: Chr9:71852789 GRCh38: Chr9:69237873	TJP2		Cholestasis, progressive familial intrahepatic, 4	Likely pathogenic (Oct 15, 2019)	criteria provided, single submitter
Select item 80584021.	NM_004817.4(TJP2):c.1292C>G (p.Ser431Ter) GRCh37: Chr9:71842762 GRCh38: Chr9:69227846	TJP2	S408, S431, S435, S462	Cholestasis, progressive familial intrahepatic, 4	Pathogenic (Oct 15, 2019)	criteria provided, single submitter
Select item 80583922.	NM_004817.4(TJP2):c.2908C>T (p.Arg970Ter) GRCh37: Chr9:71864318 GRCh38: Chr9:69249402	TJP2	R1001, R945, R947, R970, R974*	Cholestasis, progressive familial intrahepatic, 4	Pathogenic (Oct 15, 2019)	criteria provided, single submitter
Select item 80583823.	NM_004817.4(TJP2):c.2209G>A (p.Gly737Ser) GRCh37: Chr9:71852823 GRCh38: Chr9:69237907	TJP2	G712S, G714S, G737S, G741S, G768S	Cholestasis, progressive familial intrahepatic, 4, Melnick-Fraser syndrome	Pathogenic/Likely pathogenic (Apr 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80583724.	NM_004817.4(TJP2):c.1672-1G>A GRCh37: Chr9:71849354 GRCh38: Chr9:69234438	TJP2		Cholestasis, progressive familial intrahepatic, 4	Pathogenic (Oct 15, 2019)	criteria provided, single submitter
Select item 80583625.	NM_004817.4(TJP2):c.1574T>C (p.Leu525Ser) GRCh37: Chr9:71845051 GRCh38: Chr9:69230135	TJP2	L500S, L502S, L525S, L529S, L556S	Cholestasis, progressive familial intrahepatic, 4	Likely pathogenic (Oct 15, 2019)	criteria provided, single submitter
Select item 80583526.	NM_004817.4(TJP2):c.236T>G (p.Leu79Arg) GRCh37: Chr9:71831376 GRCh38: Chr9:69216460	TJP2	L110R, L56R, L79R, L83R	Cholestasis, progressive familial intrahepatic, 4	Likely pathogenic (Oct 15, 2019)	criteria provided, single submitter
Select item 69427427.	NM_004817.4(TJP2):c.1000C>T (p.Arg334Ter) GRCh37: Chr9:71840267 GRCh38: Chr9:69225351	TJP2	R334, R311, R338, R365	Cholestasis, progressive familial intrahepatic, 4	Pathogenic (Sep 24, 2019)	no assertion criteria provided
Select item 63204528.	NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter) GRCh37: Chr9:71851057 GRCh38: Chr9:69236141	TJP2	R632, R609, R607, R663, R636*	Cholestasis, progressive familial intrahepatic, 4	Pathogenic (Dec 26, 2019)	criteria provided, multiple submitters, no conflicts
Select item 59715829.	NM_004817.4(TJP2):c.1576G>T (p.Ala526Ser) GRCh37: Chr9:71845053 GRCh38: Chr9:69230137	TJP2	A526S, A503S, A530S, A557S, A501S	Hypercholanemia, familial 1, Cholestasis, progressive familial intrahepatic, 4, not provided	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50256730.	NM_004817.4(TJP2):c.3392C>T (p.Thr1131Met) GRCh37: Chr9:71867801 GRCh38: Chr9:69252885	TJP2	T1131M, T1162M, T1023M, T1094M, T1135M, T961M, T984M, T988M, T1098M, T1106M, T1108M	not provided, Cholestasis, progressive familial intrahepatic, 4, Hypercholanemia, familial 1	Uncertain significance (Feb 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 49994031.	NM_004817.4(TJP2):c.1631C>T (p.Ala544Val) GRCh37: Chr9:71845108 GRCh38: Chr9:69230192	TJP2	A544V, A521V, A575V, A519V, A548V	Cholestasis, progressive familial intrahepatic, 4, Hypercholanemia, familial 1, not provided	Uncertain significance (Jan 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 48922332.	NM_004817.4(TJP2):c.1056+2T>C GRCh37: Chr9:71840325 GRCh38: Chr9:69225409	TJP2		not provided, Hypercholanemia, familial 1, Cholestasis, progressive familial intrahepatic, 4	Likely pathogenic (Jul 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 43878833.	NM_004817.4(TJP2):c.813_814del (p.Ala273fs) GRCh37: Chr9:71836270-71836271 GRCh38: Chr9:69221354-69221355	TJP2	A250fs, A273fs, A277fs, A304fs	Cholestasis, progressive familial intrahepatic, 4	Pathogenic (Nov 6, 2013)	no assertion criteria provided
Select item 39750634.	NC_000009.11:g.(71833276_71835802)_(71855064_71861605)dup GRCh37: Chr9:71833276-71861605 GRCh38: Chr9:69218360-69246689	TJP2		Cholestasis, progressive familial intrahepatic, 4	Pathogenic (Jul 12, 2016)	criteria provided, single submitter
Select item 39750535.	NM_004817.4(TJP2):c.1210G>A (p.Asp404Asn) GRCh37: Chr9:71841091 GRCh38: Chr9:69226175	TJP2	D404N, D408N, D381N, D435N	Cholestasis, progressive familial intrahepatic, 4	Likely pathogenic (Jul 12, 2016)	criteria provided, single submitter
Select item 37429536.	NM_004817.4(TJP2):c.1243del (p.Ser415fs) GRCh37: Chr9:71842710 GRCh38: Chr9:69227794	TJP2	S392fs, S446fs, S419fs, S415fs	Cholestasis, progressive familial intrahepatic, 4	Pathogenic (Jul 1, 2014)	no assertion criteria provided
Select item 36723537.	NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met) GRCh37: Chr9:71867780 GRCh38: Chr9:69252864	TJP2	T1124M, T1099M, T1128M, T1091M, T981M, T1016M, T1087M, T1101M, T954M, T1155M, T977M	not provided, Hypercholanemia, familial 1	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 28987838.	NM_004817.4(TJP2):c.2791G>A (p.Ala931Thr) GRCh37: Chr9:71863051 GRCh38: Chr9:69248135	TJP2	A931T, A906T, A935T, A908T, A962T	Cholestasis, progressive familial intrahepatic, 4, Hypercholanemia, familial 1, not provided, Inborn genetic diseases	Uncertain significance (Apr 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28173239.	NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val) GRCh37: Chr9:71866027 GRCh38: Chr9:69251111	TJP2	A1023V, A1054V, A915V, A1027V, A986V, A998V, A1000V, A990V	not provided, Cholestasis, progressive familial intrahepatic, 4	Conflicting interpretations of pathogenicity (Nov 17, 2021)	criteria provided, conflicting interpretations
Select item 28080840.	NM_004817.4(TJP2):c.570_574dup (p.Ser192fs) GRCh37: Chr9:71836028-71836029 GRCh38: Chr9:69221112-69221113	TJP2	S192fs, S223fs, S169fs, S196fs	not provided	Pathogenic (Aug 31, 2016)	criteria provided, single submitter
Select item 25955441.	NM_004817.4(TJP2):c.2992-19G>A GRCh37: Chr9:71865932 GRCh38: Chr9:69251016	TJP2		not specified, Cholestasis, progressive familial intrahepatic, 4, not provided, Hypercholanemia, familial 1	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21919742.	NM_004817.4(TJP2):c.817del (p.Ala273fs) GRCh37: Chr9:71836274 GRCh38: Chr9:69221358	TJP2	A250fs, A277fs, A304fs, A273fs	not provided	Pathogenic (Aug 8, 2017)	criteria provided, single submitter
Select item 21919643.	NM_004817.4(TJP2):c.2438dup (p.Asn814fs) GRCh37: Chr9:71854928-71854929 GRCh38: Chr9:69240012-69240013	TJP2	N789fs, N814fs, N791fs, N845fs, N818fs	Cholestasis, progressive familial intrahepatic, 4	Pathogenic (Dec 1, 2015)	no assertion criteria provided
Select item 21919544.	NM_004817.4(TJP2):c.2668-1G>T GRCh37: Chr9:71862927 GRCh38: Chr9:69248011	TJP2		Cholestasis, progressive familial intrahepatic, 4	Pathogenic (Dec 1, 2015)	no assertion criteria provided
Select item 21749845.	NM_004817.3(TJP2):c.3408_3573del166 (p.Ser1136Argfs) GRCh37: Chr9:71869122-71869287 GRCh38: Chr9:69254206-69254371	TJP2		Cholestasis, progressive familial intrahepatic, 4	Pathogenic (May 19, 2015)	criteria provided, single submitter
Select item 19639846.	NM_004817.4(TJP2):c.239+19T>C GRCh37: Chr9:71831398 GRCh38: Chr9:69216482	TJP2		Cholestasis, progressive familial intrahepatic, 4, not provided, not specified, Hypercholanemia, familial 1	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18001847.	NM_004817.4(TJP2):c.3407+3A>G GRCh37: Chr9:71867819 GRCh38: Chr9:69252903	TJP2		Hypercholanemia, familial 1, Cholestasis, progressive familial intrahepatic, 4, not specified	Likely benign (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 17881348.	NM_004817.4(TJP2):c.1213_1215del (p.Ile405del) GRCh37: Chr9:71842682-71842684 GRCh38: Chr9:69227766-69227768	TJP2	I382del, I405del, I409del, I436del	Nonsyndromic Hearing Loss, Dominant, Hypercholanemia, familial 1, Cholestasis, progressive familial intrahepatic, 4, not specified, not provided	Uncertain significance (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 17854349.	NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys) GRCh37: Chr9:71842728 GRCh38: Chr9:69227812	TJP2	R397C, R420C, R451C, R424C	Hypercholanemia, familial 1, Cholestasis, progressive familial intrahepatic, 4, not specified, not provided	Uncertain significance (Apr 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16542750.	NM_004817.4(TJP2):c.3557G>A (p.Arg1186Gln) GRCh37: Chr9:71869274 GRCh38: Chr9:69254358	TJP2	R1016Q, R1186Q, R1039Q, R1149Q, R1161Q, R1190Q, R1153Q, R1217Q, R1043Q, R1078Q, R1163Q	Hypercholanemia, familial 1, Cholestasis, progressive familial intrahepatic, 4, not specified	Uncertain significance (Jan 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16540351.	NM_004817.4(TJP2):c.185C>T (p.Thr62Met) GRCh37: Chr9:71831325 GRCh38: Chr9:69216409	TJP2	T39M, T62M, T66M, T93M	not specified, not provided	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 13963052.	NM_004817.4(TJP2):c.1992-2A>G GRCh37: Chr9:71851863 GRCh38: Chr9:69236947	TJP2		not provided	Pathogenic (Oct 22, 2014)	criteria provided, single submitter
Select item 13962953.	NM_004817.4(TJP2):c.1361del (p.Ala454fs) GRCh37: Chr9:71842938 GRCh38: Chr9:69228022	TJP2	A454fs, A458fs, A485fs, A431fs, A429fs	Cholestasis, progressive familial intrahepatic, 4	Pathogenic (Apr 1, 2014)	no assertion criteria provided
Select item 13962854.	NM_004817.4(TJP2):c.885del (p.Ser296fs) GRCh37: Chr9:71836342 GRCh38: Chr9:69221426	TJP2	S273fs, S296fs, S300fs, S327fs	Cholestasis, progressive familial intrahepatic, 4	Pathogenic (Apr 1, 2014)	no assertion criteria provided
Select item 13962755.	NM_004817.4(TJP2):c.766_769del (p.Ala256fs) GRCh37: Chr9:71836226-71836229 GRCh38: Chr9:69221310-69221313	TJP2	A260fs, A287fs, A233fs, A256fs	not provided	Pathogenic (Dec 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4510956.	NM_004817.4(TJP2):c.2992-8C>T GRCh37: Chr9:71865943 GRCh38: Chr9:69251027	TJP2		not specified, not provided, Hypercholanemia, familial 1, Cholestasis, progressive familial intrahepatic, 4	Benign/Likely benign (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4410657.	NM_004817.4(TJP2):c.2727G>A (p.Ala909=) GRCh37: Chr9:71862987 GRCh38: Chr9:69248071	TJP2		Cholestasis, progressive familial intrahepatic, 4, not specified, not provided, Hypercholanemia, familial 1	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4410558.	NM_004817.4(TJP2):c.2715C>T (p.Thr905=) GRCh37: Chr9:71862975 GRCh38: Chr9:69248059	TJP2		Cholestasis, progressive familial intrahepatic, 4, not specified, not provided, Hypercholanemia, familial 1	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4409159.	NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu) GRCh37: Chr9:71843023 GRCh38: Chr9:69228107	TJP2	D482E, D459E, D513E, D457E, D486E	Cholestasis, progressive familial intrahepatic, 4, not specified, not provided, Hypercholanemia, familial 1	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 59