Jag2 Variant Search Result - Rat Genome Database

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275 records found for search term Jag2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405266905	CV3202130	single nucleotide variant	NM_002226.5(JAG2):c.*4C>T	JAG2-related disorder [RCV003911604]	likely benign	14	105142691	105142691	Human		name , trait , alternate_id
405271364	CV3219046	single nucleotide variant	NM_002226.5(JAG2):c.-7G>A	JAG2-related disorder [RCV003971765]	likely benign	14	105168427	105168427	Human		name , trait , alternate_id
405286504	CV3192167	single nucleotide variant	NM_002226.5(JAG2):c.1603-7C>T	JAG2-related disorder [RCV003924078]	likely benign	14	105149327	105149327	Human		name , trait , alternate_id
405259458	CV3194792	single nucleotide variant	NM_002226.5(JAG2):c.2593+9C>G	JAG2-related disorder [RCV003894180]	likely benign	14	105146602	105146602	Human		name , trait , alternate_id
405277624	CV3195988	single nucleotide variant	NM_002226.5(JAG2):c.2249-8C>A	JAG2-related disorder [RCV003904510]	likely benign	14	105147896	105147896	Human		name , trait , alternate_id
405285008	CV3202313	single nucleotide variant	NM_002226.5(JAG2):c.2394-6C>T	JAG2-related disorder [RCV003909586]	likely benign	14	105147417	105147417	Human		name , trait , alternate_id
405294095	CV3203440	single nucleotide variant	NM_002226.5(JAG2):c.1382-6C>T	JAG2-related disorder [RCV003933977]	likely benign	14	105150917	105150917	Human		name , trait , alternate_id
405258473	CV3203781	single nucleotide variant	NM_002226.5(JAG2):c.2365+6T>C	JAG2-related disorder [RCV003941957]	benign	14	105147766	105147766	Human		name , trait , alternate_id
405255821	CV3208324	single nucleotide variant	NM_002226.5(JAG2):c.1429-6G>A	JAG2-related disorder [RCV003939441]	likely benign	14	105150783	105150783	Human		name , trait , alternate_id
405266479	CV3211801	single nucleotide variant	NM_002226.5(JAG2):c.1429-7C>T	JAG2-related disorder [RCV003947091]	likely benign	14	105150784	105150784	Human		name , trait , alternate_id
405282520	CV3212926	single nucleotide variant	NM_002226.5(JAG2):c.1753+8G>A	JAG2-related disorder [RCV003957045]	likely benign	14	105149162	105149162	Human		name , trait , alternate_id
405283735	CV3218598	single nucleotide variant	NM_002226.5(JAG2):c.2952+6G>A	JAG2-related disorder [RCV003957375]	likely benign	14	105145725	105145725	Human		name , trait , alternate_id
15145748	CV775994	single nucleotide variant	NM_002226.5(JAG2):c.1040-4A>G	not provided [RCV000944635]	likely benign	14	105151743	105151743	Human		name
598123537	CV3884795	single nucleotide variant	NM_002226.5(JAG2):c.1154-11A>T	not specified [RCV005238402]	benign	14	105151407	105151407	Human		name
405294203	CV3214644	microsatellite	NM_002226.5(JAG2):c.2249-21CTC[3]	JAG2-related disorder [RCV003934087]	likely benign	14	105147898	105147900	Human		name , trait , alternate_id
598258577	CV3969289	single nucleotide variant	NM_002226.5(JAG2):c.4C>T (p.Arg2Trp)	not specified [RCV005347230]	uncertain significance	14	105168417	105168417	Human		name
155929651	CV2356975	single nucleotide variant	NM_002226.5(JAG2):c.22C>T (p.Arg8Cys)	not specified [RCV004204342]	uncertain significance	14	105168399	105168399	Human		name
405260679	CV3204224	single nucleotide variant	NM_002226.5(JAG2):c.189C>T (p.Gly63=)	JAG2-related disorder [RCV003944077]	likely benign	14	105167985	105167985	Human		name , trait , alternate_id
598172367	CV3969300	single nucleotide variant	NM_002226.5(JAG2):c.23G>A (p.Arg8His)	not specified [RCV005370761]	uncertain significance	14	105168398	105168398	Human		name
401911289	CV2807621	single nucleotide variant	NM_002226.5(JAG2):c.642C>T (p.Arg214=)	JAG2-related disorder [RCV003929053]\|not provided [RCV003426412]	likely benign	14	105155823	105155823	Human	1	name , trait , alternate_id
405276042	CV3199613	single nucleotide variant	NM_002226.5(JAG2):c.390C>T (p.Val130=)	JAG2-related disorder [RCV003917002]\|not provided [RCV005242481]	likely benign	14	105167784	105167784	Human	1	name , trait , alternate_id
405286715	CV3205373	single nucleotide variant	NM_002226.5(JAG2):c.522G>A (p.Pro174=)	JAG2-related disorder [RCV003959559]\|not provided [RCV004721794]	likely benign	14	105155943	105155943	Human	1	name , trait , alternate_id
405272552	CV3210074	single nucleotide variant	NM_002226.5(JAG2):c.900C>T (p.Gly300=)	JAG2-related disorder [RCV003914324]	likely benign	14	105152180	105152180	Human		name , trait , alternate_id
405261726	CV3219930	single nucleotide variant	NM_002226.5(JAG2):c.402C>T (p.Phe134=)	JAG2-related disorder [RCV003967096]	likely benign	14	105167772	105167772	Human		name , trait , alternate_id
405291899	CV3221134	single nucleotide variant	NM_002226.5(JAG2):c.612C>T (p.Ser204=)	JAG2-related disorder [RCV003964236]	likely benign	14	105155853	105155853	Human		name , trait , alternate_id
598172306	CV3969281	single nucleotide variant	NM_002226.5(JAG2):c.71C>T (p.Ala24Val)	not specified [RCV005370751]	uncertain significance	14	105168103	105168103	Human		name
15201151	CV725591	single nucleotide variant	NM_002226.5(JAG2):c.645C>T (p.Asn215=)	JAG2-related disorder [RCV003930794]\|not provided [RCV000891113]	benign	14	105155820	105155820	Human	1	name , trait , alternate_id
15185975	CV725592	single nucleotide variant	NM_002226.5(JAG2):c.306C>T (p.Ser102=)	JAG2-related disorder [RCV003920667]\|not provided [RCV000886845]	benign	14	105167868	105167868	Human	1	name , trait , alternate_id
150520664	CV1290478	single nucleotide variant	NM_002226.5(JAG2):c.221G>C (p.Cys74Ser)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV001731215]\|not provided [RCV004591559]	pathogenic\|likely pathogenic\|uncertain significance	14	105167953	105167953	Human	1	name
152157070	CV1668946	single nucleotide variant	NM_002226.5(JAG2):c.283A>G (p.Thr95Ala)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV002223155]	uncertain significance	14	105167891	105167891	Human	1	name
156194997	CV2322239	single nucleotide variant	NM_002226.5(JAG2):c.182G>C (p.Gly61Ala)	not specified [RCV004176011]	uncertain significance	14	105167992	105167992	Human		name
155939285	CV2376659	single nucleotide variant	NM_002226.5(JAG2):c.175G>C (p.Ala59Pro)	not specified [RCV004222857]	uncertain significance	14	105167999	105167999	Human		name
329373766	CV2452652	single nucleotide variant	NM_002226.5(JAG2):c.181G>A (p.Gly61Ser)	not specified [RCV004275219]	uncertain significance	14	105167993	105167993	Human		name
401767823	CV2729946	single nucleotide variant	NM_002226.5(JAG2):c.266G>A (p.Ser89Asn)	not specified [RCV004332944]	uncertain significance	14	105167908	105167908	Human		name
401882444	CV2771338	single nucleotide variant	NM_002226.5(JAG2):c.206C>T (p.Thr69Met)	not specified [RCV004348099]	uncertain significance	14	105167968	105167968	Human		name
401911285	CV2807618	single nucleotide variant	NM_002226.5(JAG2):c.2388G>T (p.Leu796=)	not provided [RCV003426409]	likely benign	14	105147505	105147505	Human		name
401911286	CV2807619	single nucleotide variant	NM_002226.5(JAG2):c.2253G>A (p.Lys751=)	not provided [RCV003426410]	likely benign	14	105147884	105147884	Human		name
401911287	CV2807620	single nucleotide variant	NM_002226.5(JAG2):c.1836C>T (p.Cys612=)	not provided [RCV003426411]	likely benign	14	105149007	105149007	Human		name
405263128	CV3189419	single nucleotide variant	NM_002226.5(JAG2):c.1489C>T (p.Leu497=)	JAG2-related disorder [RCV003896653]	likely benign	14	105150717	105150717	Human		name , trait , alternate_id
405260048	CV3190145	single nucleotide variant	NM_002226.5(JAG2):c.1101C>T (p.Ser367=)	JAG2-related disorder [RCV003894548]	likely benign	14	105151678	105151678	Human		name , trait , alternate_id
405289345	CV3205071	single nucleotide variant	NM_002226.5(JAG2):c.2923T>C (p.Leu975=)	JAG2-related disorder [RCV003961683]\|not provided [RCV005426286]	likely benign	14	105145760	105145760	Human	1	name , trait , alternate_id
405270668	CV3212017	single nucleotide variant	NM_002226.5(JAG2):c.2028C>T (p.Asn676=)	JAG2-related disorder [RCV003949409]	likely benign	14	105148432	105148432	Human		name , trait , alternate_id
405293696	CV3214410	single nucleotide variant	NM_002226.5(JAG2):c.1956C>T (p.Ile652=)	JAG2-related disorder [RCV003932097]	likely benign	14	105148809	105148809	Human		name , trait , alternate_id
405294271	CV3214729	single nucleotide variant	NM_002226.5(JAG2):c.1551C>T (p.Ala517=)	JAG2-related disorder [RCV003934159]	likely benign	14	105150655	105150655	Human		name , trait , alternate_id
405283531	CV3218599	single nucleotide variant	NM_002226.5(JAG2):c.1821C>T (p.Gly607=)	JAG2-related disorder [RCV003957376]	likely benign	14	105149022	105149022	Human		name , trait , alternate_id
405286143	CV3218678	single nucleotide variant	NM_002226.5(JAG2):c.1812C>T (p.Gly604=)	JAG2-related disorder [RCV003959405]	likely benign	14	105149031	105149031	Human		name , trait , alternate_id
405286333	CV3218748	single nucleotide variant	NM_002226.5(JAG2):c.2889C>T (p.Ser963=)	JAG2-related disorder [RCV003959464]	likely benign	14	105145794	105145794	Human		name , trait , alternate_id
405271172	CV3218928	single nucleotide variant	NM_002226.5(JAG2):c.2013C>T (p.Cys671=)	JAG2-related disorder [RCV003971667]	likely benign	14	105148752	105148752	Human		name , trait , alternate_id
405278385	CV3221848	single nucleotide variant	NM_002226.5(JAG2):c.2502G>A (p.Ser834=)	JAG2-related disorder [RCV003976411]	benign	14	105146702	105146702	Human		name , trait , alternate_id
407427630	CV3411971	duplication	NM_002226.5(JAG2):c.463dup (p.Thr155fs)	not provided [RCV004592142]	uncertain significance	14	105157717	105157718	Human		name
408380375	CV3514514	single nucleotide variant	NM_002226.5(JAG2):c.1683C>T (p.Ala561=)	JAG2-related disorder [RCV004754127]	likely benign	14	105149240	105149240	Human		name , trait , alternate_id
15193850	CV702787	single nucleotide variant	NM_002226.5(JAG2):c.2763C>T (p.Ser921=)	JAG2-related disorder [RCV003935854]\|not provided [RCV000955487]	benign\|likely benign	14	105145920	105145920	Human	1	name , trait , alternate_id
15118295	CV714033	single nucleotide variant	NM_002226.5(JAG2):c.2100C>T (p.Cys700=)	not provided [RCV000962352]	benign	14	105148360	105148360	Human		name
15157333	CV714034	single nucleotide variant	NM_002226.5(JAG2):c.1545C>T (p.Asp515=)	JAG2-related disorder [RCV003918404]\|not provided [RCV000969288]	benign	14	105150661	105150661	Human	1	name , trait , alternate_id
15186236	CV725589	single nucleotide variant	NM_002226.5(JAG2):c.2337C>T (p.Asp779=)	JAG2-related disorder [RCV003930681]\|not provided [RCV000886920]	benign\|likely benign	14	105147800	105147800	Human	1	name , trait , alternate_id
15181067	CV725590	single nucleotide variant	NM_002226.5(JAG2):c.1107C>T (p.Phe369=)	JAG2-related disorder [RCV003968042]\|not provided [RCV000885677]	benign	14	105151672	105151672	Human	1	name , trait , alternate_id
15151719	CV739143	single nucleotide variant	NM_002226.5(JAG2):c.2523G>A (p.Thr841=)	not provided [RCV000901421]	benign	14	105146681	105146681	Human		name
15186214	CV739144	single nucleotide variant	NM_002226.5(JAG2):c.1746C>T (p.Ala582=)	not provided [RCV000908747]	likely benign	14	105149177	105149177	Human		name
15114928	CV753946	single nucleotide variant	NM_002226.5(JAG2):c.2850C>T (p.Gly950=)	JAG2-related disorder [RCV003923248]\|not provided [RCV000917367]	likely benign	14	105145833	105145833	Human	1	name , trait , alternate_id
15122260	CV753947	single nucleotide variant	NM_002226.5(JAG2):c.2781G>A (p.Gly927=)	not provided [RCV000918619]	likely benign	14	105145902	105145902	Human		name
15203121	CV753948	single nucleotide variant	NM_002226.5(JAG2):c.1572C>T (p.Cys524=)	not provided [RCV000913731]	likely benign	14	105150634	105150634	Human		name
150520582	CV1290475	single nucleotide variant	NM_002226.5(JAG2):c.728C>A (p.Ala243Asp)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV001731212]	pathogenic\|uncertain significance	14	105155622	105155622	Human	1	name
150520584	CV1290476	single nucleotide variant	NM_002226.5(JAG2):c.490G>A (p.Glu164Lys)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV001731213]	pathogenic\|uncertain significance	14	105155975	105155975	Human	1	name
150546648	CV1291576	single nucleotide variant	NM_002226.5(JAG2):c.3414T>C (p.Ile1138=)	not provided [RCV001733345]	benign	14	105142998	105142998	Human		name
152066152	CV1519386	single nucleotide variant	NM_002226.5(JAG2):c.841G>T (p.Gly281Cys)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV002074460]	likely pathogenic	14	105152239	105152239	Human	1	name
152157072	CV1668947	single nucleotide variant	NM_002226.5(JAG2):c.493C>T (p.Arg165Ter)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV002223156]	likely pathogenic	14	105155972	105155972	Human	1	name
155961626	CV2285557	single nucleotide variant	NM_002226.5(JAG2):c.670G>A (p.Asp224Asn)	not specified [RCV004141435]	uncertain significance	14	105155795	105155795	Human		name
156086404	CV2289943	single nucleotide variant	NM_002226.5(JAG2):c.989A>G (p.Gln330Arg)	not specified [RCV004150593]	uncertain significance	14	105151988	105151988	Human		name
156395086	CV2325071	single nucleotide variant	NM_002226.5(JAG2):c.847G>C (p.Val283Leu)	not specified [RCV004175610]	uncertain significance	14	105152233	105152233	Human		name
155974213	CV2342524	single nucleotide variant	NM_002226.5(JAG2):c.364G>A (p.Gly122Ser)	not specified [RCV004196622]	uncertain significance	14	105167810	105167810	Human		name
329355627	CV2434325	single nucleotide variant	NM_002226.5(JAG2):c.847G>A (p.Val283Met)	not specified [RCV004251996]	uncertain significance	14	105152233	105152233	Human		name
401767826	CV2729947	single nucleotide variant	NM_002226.5(JAG2):c.577C>A (p.Gln193Lys)	not specified [RCV004332945]	uncertain significance	14	105155888	105155888	Human		name
401911282	CV2807616	single nucleotide variant	NM_002226.5(JAG2):c.3591C>T (p.Leu1197=)	not provided [RCV003426407]	likely benign	14	105142821	105142821	Human		name
401911283	CV2807617	single nucleotide variant	NM_002226.5(JAG2):c.3471G>A (p.Pro1157=)	JAG2-related disorder [RCV003906751]\|not provided [RCV003426408]	likely benign	14	105142941	105142941	Human	1	name , trait , alternate_id
401960922	CV2844308	single nucleotide variant	NM_002226.5(JAG2):c.470C>T (p.Pro157Leu)	not provided [RCV003480103]\|not specified [RCV004927916]	uncertain significance	14	105157711	105157711	Human		name
405280685	CV3195632	single nucleotide variant	NM_002226.5(JAG2):c.3636G>A (p.Pro1212=)	JAG2-related disorder [RCV003906869]	likely benign	14	105142776	105142776	Human		name , trait , alternate_id
405275869	CV3196458	single nucleotide variant	NM_002226.5(JAG2):c.3468G>A (p.Pro1156=)	JAG2-related disorder [RCV003974288]	likely benign	14	105142944	105142944	Human		name , trait , alternate_id
405273516	CV3197769	single nucleotide variant	NM_002226.5(JAG2):c.3639C>T (p.Ala1213=)	JAG2-related disorder [RCV003901735]	likely benign	14	105142773	105142773	Human		name , trait , alternate_id
405289393	CV3205098	single nucleotide variant	NM_002226.5(JAG2):c.3156C>T (p.Ala1052=)	JAG2-related disorder [RCV003961707]	likely benign	14	105143567	105143567	Human		name , trait , alternate_id
405290730	CV3207597	single nucleotide variant	NM_002226.5(JAG2):c.3423G>A (p.Pro1141=)	JAG2-related disorder [RCV003927166]	likely benign	14	105142989	105142989	Human		name , trait , alternate_id
405703747	CV3224540	single nucleotide variant	NM_002226.5(JAG2):c.312C>A (p.Tyr104Ter)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV003989928]	likely pathogenic	14	105167862	105167862	Human	1	name
405794968	CV3275281	single nucleotide variant	NM_002226.5(JAG2):c.320C>G (p.Pro107Arg)	not specified [RCV004401055]	uncertain significance	14	105167854	105167854	Human		name
405794970	CV3275282	single nucleotide variant	NM_002226.5(JAG2):c.346C>G (p.Arg116Gly)	not specified [RCV004401056]	uncertain significance	14	105167828	105167828	Human		name
405794993	CV3275290	single nucleotide variant	NM_002226.5(JAG2):c.820G>A (p.Asp274Asn)	not specified [RCV004401064]	uncertain significance	14	105152260	105152260	Human		name
405794996	CV3275291	single nucleotide variant	NM_002226.5(JAG2):c.873G>T (p.Trp291Cys)	not specified [RCV004401065]	uncertain significance	14	105152207	105152207	Human		name
405795000	CV3275292	single nucleotide variant	NM_002226.5(JAG2):c.965C>T (p.Thr322Met)	not specified [RCV004401066]	uncertain significance	14	105152012	105152012	Human		name
405795003	CV3275293	single nucleotide variant	NM_002226.5(JAG2):c.979G>A (p.Glu327Lys)	not specified [RCV004401067]	uncertain significance	14	105151998	105151998	Human		name
405852801	CV3394216	single nucleotide variant	NM_002226.5(JAG2):c.703T>C (p.Trp235Arg)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV004544235]	uncertain significance	14	105155762	105155762	Human	1	name
407511597	CV3448051	single nucleotide variant	NM_002226.5(JAG2):c.359G>A (p.Arg120Gln)	not specified [RCV004626515]	uncertain significance	14	105167815	105167815	Human		name
408384579	CV3518433	single nucleotide variant	NM_002226.5(JAG2):c.860G>A (p.Cys287Tyr)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV004759756]	uncertain significance	14	105152220	105152220	Human	1	name
597777111	CV3684141	single nucleotide variant	NM_002226.5(JAG2):c.943C>T (p.His315Tyr)	not specified [RCV004929787]	uncertain significance	14	105152034	105152034	Human		name
597777152	CV3684152	single nucleotide variant	NM_002226.5(JAG2):c.595G>A (p.Asp199Asn)	not specified [RCV004929798]	uncertain significance	14	105155870	105155870	Human		name
598211913	CV3969270	single nucleotide variant	NM_002226.5(JAG2):c.362C>T (p.Ala121Val)	not specified [RCV005358755]	uncertain significance	14	105167812	105167812	Human		name
598172282	CV3969272	single nucleotide variant	NM_002226.5(JAG2):c.529C>T (p.Arg177Cys)	not specified [RCV005370747]	uncertain significance	14	105155936	105155936	Human		name
598258548	CV3969278	single nucleotide variant	NM_002226.5(JAG2):c.694A>G (p.Met232Val)	not specified [RCV005347224]	uncertain significance	14	105155771	105155771	Human		name
598172300	CV3969279	single nucleotide variant	NM_002226.5(JAG2):c.565C>T (p.His189Tyr)	not specified [RCV005370750]	uncertain significance	14	105155900	105155900	Human		name
598258553	CV3969283	single nucleotide variant	NM_002226.5(JAG2):c.508G>A (p.Gly170Ser)	not specified [RCV005347225]	uncertain significance	14	105155957	105155957	Human		name
598172319	CV3969286	single nucleotide variant	NM_002226.5(JAG2):c.782A>C (p.Glu261Ala)	not specified [RCV005370753]	uncertain significance	14	105155568	105155568	Human		name
598172361	CV3969299	single nucleotide variant	NM_002226.5(JAG2):c.851A>G (p.His284Arg)	not specified [RCV005370760]	uncertain significance	14	105152229	105152229	Human		name
15109363	CV714029	single nucleotide variant	NM_002226.5(JAG2):c.3390G>A (p.Pro1130=)	JAG2-related disorder [RCV003978360]\|not provided [RCV000960682]	benign	14	105143022	105143022	Human	1	name , trait , alternate_id
15147440	CV714031	single nucleotide variant	NM_002226.5(JAG2):c.3219T>G (p.Val1073=)	JAG2-related disorder [RCV003936039]\|not provided [RCV000967340]	benign\|likely benign	14	105143504	105143504	Human	1	name , trait , alternate_id
15180312	CV714035	single nucleotide variant	NM_002226.5(JAG2):c.890C>T (p.Thr297Ile)	JAG2-related disorder [RCV003928577]\|not provided [RCV000974121]	benign	14	105152190	105152190	Human	1	name , trait , alternate_id
15179913	CV725588	single nucleotide variant	NM_002226.5(JAG2):c.3132C>T (p.Gly1044=)	JAG2-related disorder [RCV003930644]\|not provided [RCV000885401]	benign	14	105143591	105143591	Human	1	name , trait , alternate_id
15159191	CV739142	single nucleotide variant	NM_002226.5(JAG2):c.3369C>T (p.Ser1123=)	not provided [RCV000902885]	benign	14	105143043	105143043	Human		name
15185379	CV769703	single nucleotide variant	NM_002226.5(JAG2):c.3291G>A (p.Ala1097=)	not provided [RCV000931041]	likely benign	14	105143121	105143121	Human		name
15193551	CV769704	single nucleotide variant	NM_002226.5(JAG2):c.3153C>T (p.Ala1051=)	not provided [RCV000933396]	likely benign	14	105143570	105143570	Human		name
150520585	CV1290477	single nucleotide variant	NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV001731214]\|not provided [RCV001753912]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	14	105146689	105146689	Human	1	name
150520587	CV1290479	single nucleotide variant	NM_002226.5(JAG2):c.2044C>T (p.Pro682Ser)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV001731216]	pathogenic\|uncertain significance	14	105148416	105148416	Human	1	name
150551091	CV1292489	single nucleotide variant	NM_002226.5(JAG2):c.1975C>T (p.Arg659Cys)	not provided [RCV001754096]	uncertain significance	14	105148790	105148790	Human		name
150546345	CV1296199	single nucleotide variant	NM_002226.5(JAG2):c.2093G>C (p.Cys698Ser)	not provided [RCV001763489]	uncertain significance	14	105148367	105148367	Human		name
152157066	CV1668944	single nucleotide variant	NM_002226.5(JAG2):c.2473C>T (p.Arg825Cys)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV002223153]	uncertain significance	14	105147332	105147332	Human	1	name
152157067	CV1668945	single nucleotide variant	NM_002226.5(JAG2):c.2930T>C (p.Phe977Ser)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV002223154]	uncertain significance	14	105145753	105145753	Human	1	name
152157074	CV1668948	single nucleotide variant	NM_002226.5(JAG2):c.1073A>T (p.Asn358Ile)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV002223157]	uncertain significance	14	105151706	105151706	Human	1	name
152157075	CV1668949	single nucleotide variant	NM_002226.5(JAG2):c.2134C>T (p.Arg712Cys)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV002223158]	uncertain significance	14	105148326	105148326	Human	1	name
155800736	CV1860221	single nucleotide variant	NM_002226.5(JAG2):c.2308G>A (p.Gly770Arg)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV002466862]	uncertain significance	14	105147829	105147829	Human	1	name
156109346	CV2211176	single nucleotide variant	NM_002226.5(JAG2):c.2633C>T (p.Pro878Leu)	not specified [RCV004088338]	uncertain significance	14	105146461	105146461	Human		name
155973242	CV2224578	single nucleotide variant	NM_002226.5(JAG2):c.2485G>A (p.Asp829Asn)	not specified [RCV004098150]	uncertain significance	14	105146719	105146719	Human		name
156230108	CV2235026	single nucleotide variant	NM_002226.5(JAG2):c.1097C>T (p.Pro366Leu)	not specified [RCV004113212]	uncertain significance	14	105151682	105151682	Human		name
155980053	CV2243901	single nucleotide variant	NM_002226.5(JAG2):c.2422G>A (p.Val808Ile)	not specified [RCV004108413]	likely benign	14	105147383	105147383	Human		name
156306217	CV2252703	single nucleotide variant	NM_002226.5(JAG2):c.2926C>T (p.His976Tyr)	not specified [RCV004118560]	uncertain significance	14	105145757	105145757	Human		name
155981856	CV2272903	single nucleotide variant	NM_002226.5(JAG2):c.1352C>T (p.Pro451Leu)	not specified [RCV004135800]	uncertain significance	14	105151020	105151020	Human		name
156262457	CV2282483	single nucleotide variant	NM_002226.5(JAG2):c.1478G>A (p.Arg493Gln)	not specified [RCV004133279]	uncertain significance	14	105150728	105150728	Human		name
156243158	CV2306722	single nucleotide variant	NM_002226.5(JAG2):c.2833G>A (p.Ala945Thr)	not specified [RCV004159309]	uncertain significance	14	105145850	105145850	Human		name
156159482	CV2314613	single nucleotide variant	NM_002226.5(JAG2):c.2627G>A (p.Gly876Asp)	not specified [RCV004168695]	uncertain significance	14	105146467	105146467	Human		name
156357040	CV2318230	single nucleotide variant	NM_002226.5(JAG2):c.1435G>A (p.Val479Met)	not specified [RCV004179414]	uncertain significance	14	105150771	105150771	Human		name
156302204	CV2319498	single nucleotide variant	NM_002226.5(JAG2):c.1001C>G (p.Thr334Ser)	not specified [RCV004185072]	uncertain significance	14	105151976	105151976	Human		name
156049829	CV2336548	single nucleotide variant	NM_002226.5(JAG2):c.1741G>A (p.Gly581Arg)	not specified [RCV004194753]	uncertain significance	14	105149182	105149182	Human		name
156220743	CV2345072	single nucleotide variant	NM_002226.5(JAG2):c.2101G>A (p.Asp701Asn)	not specified [RCV004193350]	uncertain significance	14	105148359	105148359	Human		name
156224379	CV2355654	single nucleotide variant	NM_002226.5(JAG2):c.1012G>A (p.Gly338Ser)	not specified [RCV004198613]	uncertain significance	14	105151965	105151965	Human		name
155907017	CV2357428	single nucleotide variant	NM_002226.5(JAG2):c.2936G>A (p.Arg979His)	not specified [RCV004200305]	uncertain significance	14	105145747	105145747	Human		name
155909324	CV2359670	single nucleotide variant	NM_002226.5(JAG2):c.2944G>A (p.Val982Met)	not specified [RCV004210496]	uncertain significance	14	105145739	105145739	Human		name
156135259	CV2362223	single nucleotide variant	NM_002226.5(JAG2):c.1552G>A (p.Asp518Asn)	not specified [RCV004210019]	uncertain significance	14	105150654	105150654	Human		name
156211274	CV2370332	single nucleotide variant	NM_002226.5(JAG2):c.2968G>A (p.Ala990Thr)	not specified [RCV004213240]	uncertain significance	14	105145046	105145046	Human		name
156266917	CV2372566	single nucleotide variant	NM_002226.5(JAG2):c.2980G>A (p.Gly994Arg)	not specified [RCV004219358]	uncertain significance	14	105145034	105145034	Human		name
156346321	CV2377989	single nucleotide variant	NM_002226.5(JAG2):c.1783C>T (p.Pro595Ser)	not specified [RCV004230549]	uncertain significance	14	105149060	105149060	Human		name
156389845	CV2380877	single nucleotide variant	NM_002226.5(JAG2):c.1400G>A (p.Gly467Glu)	not specified [RCV004218426]	uncertain significance	14	105150893	105150893	Human		name
156063271	CV2389351	single nucleotide variant	NM_002226.5(JAG2):c.2057G>A (p.Arg686His)	not specified [RCV004238094]	uncertain significance	14	105148403	105148403	Human		name
329380699	CV2440405	single nucleotide variant	NM_002226.5(JAG2):c.1594C>T (p.Leu532Phe)	not specified [RCV004256342]	uncertain significance	14	105150612	105150612	Human		name
329399557	CV2443251	single nucleotide variant	NM_002226.5(JAG2):c.1811G>A (p.Gly604Asp)	not specified [RCV004260059]	uncertain significance	14	105149032	105149032	Human		name
329365488	CV2444919	single nucleotide variant	NM_002226.5(JAG2):c.2333G>A (p.Arg778Gln)	not specified [RCV004261202]	uncertain significance	14	105147804	105147804	Human		name
401735579	CV2672689	single nucleotide variant	NM_002226.5(JAG2):c.2209G>A (p.Ala737Thr)	not specified [RCV004287704]	uncertain significance	14	105148155	105148155	Human		name
401721918	CV2680740	single nucleotide variant	NM_002226.5(JAG2):c.1758C>G (p.Ile586Met)	not specified [RCV004291349]	uncertain significance	14	105149085	105149085	Human		name
401743697	CV2684762	single nucleotide variant	NM_002226.5(JAG2):c.1721C>T (p.Pro574Leu)	not specified [RCV004293844]	uncertain significance	14	105149202	105149202	Human		name
401782136	CV2686551	single nucleotide variant	NM_002226.5(JAG2):c.1019C>T (p.Ser340Leu)	not specified [RCV004299986]	uncertain significance	14	105151958	105151958	Human		name
401731455	CV2693813	single nucleotide variant	NM_002226.5(JAG2):c.2884C>T (p.Arg962Cys)	not specified [RCV004300127]	uncertain significance	14	105145799	105145799	Human		name
401726468	CV2695692	single nucleotide variant	NM_002226.5(JAG2):c.1093G>A (p.Val365Met)	not specified [RCV004299496]	uncertain significance	14	105151686	105151686	Human		name
401773525	CV2709358	single nucleotide variant	NM_002226.5(JAG2):c.1726G>A (p.Glu576Lys)	not specified [RCV004316502]	uncertain significance	14	105149197	105149197	Human		name
401724773	CV2714967	single nucleotide variant	NM_002226.5(JAG2):c.2101G>C (p.Asp701His)	not specified [RCV004322289]	uncertain significance	14	105148359	105148359	Human		name
401774047	CV2727714	single nucleotide variant	NM_002226.5(JAG2):c.1810G>A (p.Gly604Ser)	not specified [RCV004323752]	uncertain significance	14	105149033	105149033	Human		name
401870898	CV2756504	single nucleotide variant	NM_002226.5(JAG2):c.2885G>A (p.Arg962His)	not specified [RCV004345037]	uncertain significance	14	105145798	105145798	Human		name
401936566	CV2798750	single nucleotide variant	NM_002226.5(JAG2):c.2935C>T (p.Arg979Cys)	JAG2-related disorder [RCV003414584]\|not provided [RCV004763679]\|not specified [RCV004362828]	uncertain significance	14	105145748	105145748	Human	1	name , trait , alternate_id
401913257	CV2801649	single nucleotide variant	NM_002226.5(JAG2):c.1588G>C (p.Gly530Arg)	JAG2-related disorder [RCV003400095]	uncertain significance	14	105150618	105150618	Human		name , trait , alternate_id
405284686	CV3197030	single nucleotide variant	NM_002226.5(JAG2):c.2063G>A (p.Arg688His)	JAG2-related disorder [RCV003979871]	benign	14	105148397	105148397	Human		name , trait , alternate_id
405293015	CV3207178	single nucleotide variant	NM_002226.5(JAG2):c.2459C>T (p.Ala820Val)	JAG2-related disorder [RCV003931581]\|not provided [RCV004790643]	likely benign\|uncertain significance	14	105147346	105147346	Human	1	name , trait , alternate_id
405261132	CV3212332	single nucleotide variant	NM_002226.5(JAG2):c.2623C>T (p.Arg875Trp)	JAG2-related disorder [RCV003944394]\|not specified [RCV004369842]	likely benign\|uncertain significance	14	105146471	105146471	Human	1	name , trait , alternate_id
405692122	CV3227577	single nucleotide variant	NM_002226.5(JAG2):c.2434C>T (p.Arg812Cys)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV003991922]	uncertain significance	14	105147371	105147371	Human	1	name
405794921	CV3275265	single nucleotide variant	NM_002226.5(JAG2):c.1303G>A (p.Ala435Thr)	not specified [RCV004401039]	uncertain significance	14	105151069	105151069	Human		name
405794925	CV3275266	single nucleotide variant	NM_002226.5(JAG2):c.1349T>C (p.Ile450Thr)	not specified [RCV004401040]	uncertain significance	14	105151023	105151023	Human		name
405794928	CV3275267	single nucleotide variant	NM_002226.5(JAG2):c.1397G>A (p.Arg466His)	not provided [RCV004818449]\|not specified [RCV004401041]	uncertain significance	14	105150896	105150896	Human		name
405794931	CV3275268	single nucleotide variant	NM_002226.5(JAG2):c.1462C>T (p.Arg488Trp)	not specified [RCV004401042]	uncertain significance	14	105150744	105150744	Human		name
405794934	CV3275269	single nucleotide variant	NM_002226.5(JAG2):c.1703G>A (p.Gly568Asp)	not specified [RCV004401043]	uncertain significance	14	105149220	105149220	Human		name
405794939	CV3275271	single nucleotide variant	NM_002226.5(JAG2):c.1769G>A (p.Gly590Glu)	not specified [RCV004401045]	uncertain significance	14	105149074	105149074	Human		name
405794942	CV3275272	single nucleotide variant	NM_002226.5(JAG2):c.1831C>T (p.Arg611Cys)	not specified [RCV004401046]	uncertain significance	14	105149012	105149012	Human		name
405794945	CV3275273	single nucleotide variant	NM_002226.5(JAG2):c.2198C>T (p.Thr733Ile)	not specified [RCV004401047]	uncertain significance	14	105148166	105148166	Human		name
405794947	CV3275274	single nucleotide variant	NM_002226.5(JAG2):c.2245G>A (p.Val749Ile)	not specified [RCV004401048]	likely benign	14	105148119	105148119	Human		name
405794950	CV3275275	single nucleotide variant	NM_002226.5(JAG2):c.2351G>A (p.Arg784His)	not specified [RCV004401049]	uncertain significance	14	105147786	105147786	Human		name
405794954	CV3275276	single nucleotide variant	NM_002226.5(JAG2):c.2469C>G (p.Asp823Glu)	not specified [RCV004401050]	uncertain significance	14	105147336	105147336	Human		name
405794956	CV3275277	single nucleotide variant	NM_002226.5(JAG2):c.2522C>T (p.Thr841Met)	not specified [RCV004401051]	uncertain significance	14	105146682	105146682	Human		name
405794959	CV3275278	single nucleotide variant	NM_002226.5(JAG2):c.2743G>A (p.Gly915Ser)	not specified [RCV004401052]	uncertain significance	14	105145940	105145940	Human		name
405794965	CV3275280	single nucleotide variant	NM_002226.5(JAG2):c.2987G>A (p.Arg996His)	not specified [RCV004401054]	uncertain significance	14	105145027	105145027	Human		name
405852800	CV3394215	single nucleotide variant	NM_002226.5(JAG2):c.1021G>T (p.Gly341Cys)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV004544234]	uncertain significance	14	105151956	105151956	Human	1	name
405852802	CV3394217	single nucleotide variant	NM_002226.5(JAG2):c.2350C>T (p.Arg784Cys)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV004544236]	uncertain significance	14	105147787	105147787	Human	1	name
407511591	CV3448049	single nucleotide variant	NM_002226.5(JAG2):c.1522C>T (p.His508Tyr)	not specified [RCV004626513]	uncertain significance	14	105150684	105150684	Human		name
407511594	CV3448050	single nucleotide variant	NM_002226.5(JAG2):c.1515C>A (p.Ser505Arg)	not specified [RCV004626514]	uncertain significance	14	105150691	105150691	Human		name
407466695	CV3448052	single nucleotide variant	NM_002226.5(JAG2):c.1210G>A (p.Val404Met)	not specified [RCV004635702]	uncertain significance	14	105151340	105151340	Human		name
407466702	CV3448054	single nucleotide variant	NM_002226.5(JAG2):c.1795G>A (p.Gly599Ser)	not specified [RCV004635704]	uncertain significance	14	105149048	105149048	Human		name
408393822	CV3526229	single nucleotide variant	NM_002226.5(JAG2):c.2369C>G (p.Thr790Ser)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV004771661]	uncertain significance	14	105147524	105147524	Human	1	name
596932882	CV3539422	single nucleotide variant	NM_002226.5(JAG2):c.2581C>G (p.Arg861Gly)	not provided [RCV004794046]	uncertain significance	14	105146623	105146623	Human		name
596932881	CV3539423	single nucleotide variant	NM_002226.5(JAG2):c.1793C>G (p.Pro598Arg)	not provided [RCV004794047]	uncertain significance	14	105149050	105149050	Human		name
596932880	CV3539424	single nucleotide variant	NM_002226.5(JAG2):c.1636C>T (p.Arg546Trp)	not provided [RCV004794048]	uncertain significance	14	105149287	105149287	Human		name
596932878	CV3539426	single nucleotide variant	NM_002226.5(JAG2):c.1064C>T (p.Pro355Leu)	not provided [RCV004794050]	uncertain significance	14	105151715	105151715	Human		name
596946381	CV3550646	single nucleotide variant	NM_002226.5(JAG2):c.1399G>A (p.Gly467Arg)	not provided [RCV004819185]	uncertain significance	14	105150894	105150894	Human		name
597777051	CV3684125	single nucleotide variant	NM_002226.5(JAG2):c.1642G>A (p.Gly548Ser)	not specified [RCV004929771]	uncertain significance	14	105149281	105149281	Human		name
597777059	CV3684127	single nucleotide variant	NM_002226.5(JAG2):c.2447C>T (p.Ala816Val)	not specified [RCV004929773]	uncertain significance	14	105147358	105147358	Human		name
597777070	CV3684130	single nucleotide variant	NM_002226.5(JAG2):c.2617T>C (p.Trp873Arg)	not specified [RCV004929776]	uncertain significance	14	105146477	105146477	Human		name
597777074	CV3684131	single nucleotide variant	NM_002226.5(JAG2):c.1730C>T (p.Pro577Leu)	not specified [RCV004929777]	uncertain significance	14	105149193	105149193	Human		name
597777082	CV3684133	single nucleotide variant	NM_002226.5(JAG2):c.2189G>A (p.Ser730Asn)	not specified [RCV004929779]	uncertain significance	14	105148175	105148175	Human		name
597777085	CV3684134	single nucleotide variant	NM_002226.5(JAG2):c.1637G>T (p.Arg546Leu)	not specified [RCV004929780]	uncertain significance	14	105149286	105149286	Human		name
597777089	CV3684135	single nucleotide variant	NM_002226.5(JAG2):c.1184C>T (p.Ala395Val)	not specified [RCV004929781]	uncertain significance	14	105151366	105151366	Human		name
597777100	CV3684138	single nucleotide variant	NM_002226.5(JAG2):c.2659G>A (p.Glu887Lys)	not specified [RCV004929784]	uncertain significance	14	105146435	105146435	Human		name
597777122	CV3684144	single nucleotide variant	NM_002226.5(JAG2):c.2573C>T (p.Ala858Val)	not specified [RCV004929790]	uncertain significance	14	105146631	105146631	Human		name
597777130	CV3684146	single nucleotide variant	NM_002226.5(JAG2):c.2630C>T (p.Thr877Ile)	not specified [RCV004929792]	uncertain significance	14	105146464	105146464	Human		name
597777134	CV3684147	single nucleotide variant	NM_002226.5(JAG2):c.1736C>T (p.Pro579Leu)	not specified [RCV004929793]	uncertain significance	14	105149187	105149187	Human		name
597777138	CV3684148	single nucleotide variant	NM_002226.5(JAG2):c.1900C>T (p.His634Tyr)	not specified [RCV004929794]	uncertain significance	14	105148943	105148943	Human		name
597777142	CV3684149	single nucleotide variant	NM_002226.5(JAG2):c.1158C>G (p.Ile386Met)	not specified [RCV004929795]	uncertain significance	14	105151392	105151392	Human		name
597777144	CV3684150	single nucleotide variant	NM_002226.5(JAG2):c.1744G>A (p.Ala582Thr)	not specified [RCV004929796]	uncertain significance	14	105149179	105149179	Human		name
597777148	CV3684151	single nucleotide variant	NM_002226.5(JAG2):c.2309G>A (p.Gly770Glu)	not specified [RCV004929797]	uncertain significance	14	105147828	105147828	Human		name
597833663	CV3735049	single nucleotide variant	NM_002226.5(JAG2):c.1649G>A (p.Arg550His)	not provided [RCV005054782]	uncertain significance	14	105149274	105149274	Human		name
12896549	CV390544	microsatellite	NM_002226.5(JAG2):c.37CTG[6] (p.Leu17dup)	not specified [RCV000455499]	benign	14	105168369	105168370	Human		name
598258537	CV3969269	single nucleotide variant	NM_002226.5(JAG2):c.1175A>G (p.Asn392Ser)	not specified [RCV005347222]	uncertain significance	14	105151375	105151375	Human		name
598172277	CV3969271	single nucleotide variant	NM_002226.5(JAG2):c.2890G>A (p.Gly964Ser)	not specified [RCV005370746]	uncertain significance	14	105145793	105145793	Human		name
598211938	CV3969280	single nucleotide variant	NM_002226.5(JAG2):c.1724G>A (p.Arg575His)	not specified [RCV005358758]	uncertain significance	14	105149199	105149199	Human		name
598172313	CV3969282	single nucleotide variant	NM_002226.5(JAG2):c.2549G>A (p.Arg850His)	not specified [RCV005370752]	uncertain significance	14	105146655	105146655	Human		name
598258562	CV3969285	single nucleotide variant	NM_002226.5(JAG2):c.2344G>A (p.Glu782Lys)	not specified [RCV005347227]	uncertain significance	14	105147793	105147793	Human		name
598258568	CV3969287	single nucleotide variant	NM_002226.5(JAG2):c.2806G>A (p.Gly936Ser)	not specified [RCV005347228]	uncertain significance	14	105145877	105145877	Human		name
598172326	CV3969290	single nucleotide variant	NM_002226.5(JAG2):c.2693G>A (p.Arg898His)	not specified [RCV005370754]	likely benign	14	105146401	105146401	Human		name
598172332	CV3969291	single nucleotide variant	NM_002226.5(JAG2):c.1229T>A (p.Ile410Asn)	not specified [RCV005370755]	uncertain significance	14	105151321	105151321	Human		name
598258582	CV3969292	single nucleotide variant	NM_002226.5(JAG2):c.2633C>A (p.Pro878Gln)	not specified [RCV005347231]	uncertain significance	14	105146461	105146461	Human		name
598172344	CV3969294	single nucleotide variant	NM_002226.5(JAG2):c.2624G>A (p.Arg875Gln)	not specified [RCV005370757]	likely benign	14	105146470	105146470	Human		name
598258591	CV3969298	single nucleotide variant	NM_002226.5(JAG2):c.2764G>A (p.Ala922Thr)	not specified [RCV005347233]	uncertain significance	14	105145919	105145919	Human		name
598258594	CV3969301	single nucleotide variant	NM_002226.5(JAG2):c.2870C>A (p.Thr957Asn)	not specified [RCV005347234]	uncertain significance	14	105145813	105145813	Human		name
616933074	CV4012746	single nucleotide variant	NM_002226.5(JAG2):c.2419G>A (p.Gly807Ser)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV005410208]	uncertain significance	14	105147386	105147386	Human	1	name
616933073	CV4012747	single nucleotide variant	NM_002226.5(JAG2):c.2318T>C (p.Phe773Ser)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV005410209]	uncertain significance	14	105147819	105147819	Human	1	name
616933072	CV4012748	single nucleotide variant	NM_002226.5(JAG2):c.1135G>A (p.Gly379Arg)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV005410210]	uncertain significance	14	105151644	105151644	Human	1	name
15159125	CV714032	single nucleotide variant	NM_002226.5(JAG2):c.2851G>A (p.Ala951Thr)	not provided [RCV000969651]	benign	14	105145832	105145832	Human		name
156248842	CV2199343	single nucleotide variant	NM_002226.5(JAG2):c.3605C>T (p.Thr1202Ile)	not specified [RCV004070921]	uncertain significance	14	105142807	105142807	Human		name
156073915	CV2248141	single nucleotide variant	NM_002226.5(JAG2):c.3467C>T (p.Pro1156Leu)	not specified [RCV004117542]	uncertain significance	14	105142945	105142945	Human		name
156198664	CV2255924	single nucleotide variant	NM_002226.5(JAG2):c.3329G>A (p.Arg1110Lys)	not specified [RCV004122380]	uncertain significance	14	105143083	105143083	Human		name
155931983	CV2293813	single nucleotide variant	NM_002226.5(JAG2):c.3561G>C (p.Glu1187Asp)	not specified [RCV004155083]	uncertain significance	14	105142851	105142851	Human		name
156169034	CV2296528	single nucleotide variant	NM_002226.5(JAG2):c.3389C>T (p.Pro1130Leu)	not provided [RCV004790429]\|not specified [RCV004154603]	uncertain significance	14	105143023	105143023	Human		name
156055189	CV2326564	single nucleotide variant	NM_002226.5(JAG2):c.3538G>A (p.Asp1180Asn)	not specified [RCV004183109]	uncertain significance	14	105142874	105142874	Human		name
156185880	CV2332457	single nucleotide variant	NM_002226.5(JAG2):c.3056C>T (p.Ser1019Leu)	not specified [RCV004196184]	uncertain significance	14	105144958	105144958	Human		name
156229995	CV2353034	single nucleotide variant	NM_002226.5(JAG2):c.3514G>A (p.Ala1172Thr)	not specified [RCV004201063]	uncertain significance	14	105142898	105142898	Human		name
156391174	CV2385151	single nucleotide variant	NM_002226.5(JAG2):c.3503C>T (p.Pro1168Leu)	not specified [RCV004228407]	uncertain significance	14	105142909	105142909	Human		name
329361289	CV2436862	single nucleotide variant	NM_002226.5(JAG2):c.3475C>T (p.Arg1159Cys)	not specified [RCV004260251]	uncertain significance	14	105142937	105142937	Human		name
329380214	CV2444261	single nucleotide variant	NM_002226.5(JAG2):c.3439G>A (p.Val1147Met)	not specified [RCV004263029]	uncertain significance	14	105142973	105142973	Human		name
329365418	CV2444855	single nucleotide variant	NM_002226.5(JAG2):c.3113A>G (p.Asp1038Gly)	not specified [RCV004259093]	uncertain significance	14	105143610	105143610	Human		name
401723994	CV2737926	single nucleotide variant	NM_002226.5(JAG2):c.3004A>G (p.Arg1002Gly)	Mendelian syndromes with cleft lip/palate [RCV003315098]	uncertain significance	14	105145010	105145010	Human		name
401887339	CV2771899	single nucleotide variant	NM_002226.5(JAG2):c.3095C>T (p.Pro1032Leu)	not specified [RCV004344610]	uncertain significance	14	105143628	105143628	Human		name
401882181	CV2774727	single nucleotide variant	NM_002226.5(JAG2):c.3514G>T (p.Ala1172Ser)	not specified [RCV004343829]	uncertain significance	14	105142898	105142898	Human		name
401931407	CV2798390	single nucleotide variant	NM_002226.5(JAG2):c.3307G>T (p.Val1103Leu)	JAG2-related disorder [RCV003391379]	uncertain significance	14	105143105	105143105	Human		name , trait , alternate_id
401960921	CV2844307	single nucleotide variant	NM_002226.5(JAG2):c.3520G>A (p.Val1174Ile)	not provided [RCV003480102]	uncertain significance	14	105142892	105142892	Human		name
405282734	CV3191092	single nucleotide variant	NM_002226.5(JAG2):c.3635C>T (p.Pro1212Leu)	JAG2-related disorder [RCV003921508]	likely benign	14	105142777	105142777	Human		name , trait , alternate_id
405276717	CV3198634	single nucleotide variant	NM_002226.5(JAG2):c.3424G>A (p.Gly1142Arg)	JAG2-related disorder [RCV003903961]	likely benign	14	105142988	105142988	Human		name , trait , alternate_id
405270714	CV3212099	single nucleotide variant	NM_002226.5(JAG2):c.3050C>T (p.Ala1017Val)	JAG2-related disorder [RCV003949472]	likely benign	14	105144964	105144964	Human		name , trait , alternate_id
405289839	CV3213959	single nucleotide variant	NM_002226.5(JAG2):c.3706G>A (p.Gly1236Ser)	JAG2-related disorder [RCV003926812]\|not provided [RCV005242495]	likely benign	14	105142706	105142706	Human	1	name , trait , alternate_id
405281408	CV3224100	single nucleotide variant	NM_002226.5(JAG2):c.3046C>T (p.Arg1016Trp)	not specified [RCV003988482]	uncertain significance	14	105144968	105144968	Human		name
405794973	CV3275283	single nucleotide variant	NM_002226.5(JAG2):c.3482C>T (p.Ala1161Val)	not specified [RCV004401057]	uncertain significance	14	105142930	105142930	Human		name
405794976	CV3275284	single nucleotide variant	NM_002226.5(JAG2):c.3537G>C (p.Glu1179Asp)	not specified [RCV004401058]	uncertain significance	14	105142875	105142875	Human		name
405794978	CV3275285	single nucleotide variant	NM_002226.5(JAG2):c.3541G>A (p.Glu1181Lys)	not specified [RCV004401059]	uncertain significance	14	105142871	105142871	Human		name
405794981	CV3275286	single nucleotide variant	NM_002226.5(JAG2):c.3620G>A (p.Arg1207His)	not specified [RCV004401060]	uncertain significance	14	105142792	105142792	Human		name
405794984	CV3275287	single nucleotide variant	NM_002226.5(JAG2):c.3653G>T (p.Gly1218Val)	not specified [RCV004401061]	uncertain significance	14	105142759	105142759	Human		name
405794987	CV3275288	single nucleotide variant	NM_002226.5(JAG2):c.3689A>G (p.Asn1230Ser)	not specified [RCV004401062]	uncertain significance	14	105142723	105142723	Human		name
407466688	CV3448048	single nucleotide variant	NM_002226.5(JAG2):c.3418C>T (p.Arg1140Trp)	not specified [RCV004635701]	uncertain significance	14	105142994	105142994	Human		name
407466697	CV3448053	single nucleotide variant	NM_002226.5(JAG2):c.3002C>T (p.Thr1001Ile)	not specified [RCV004635703]	uncertain significance	14	105145012	105145012	Human		name
596932885	CV3539419	single nucleotide variant	NM_002226.5(JAG2):c.3607A>G (p.Lys1203Glu)	not provided [RCV004794043]	uncertain significance	14	105142805	105142805	Human		name
596932884	CV3539420	single nucleotide variant	NM_002226.5(JAG2):c.3358C>T (p.Arg1120Trp)	not provided [RCV004794044]	uncertain significance	14	105143054	105143054	Human		name
596932883	CV3539421	single nucleotide variant	NM_002226.5(JAG2):c.3226G>A (p.Gly1076Ser)	not provided [RCV004794045]	uncertain significance	14	105143497	105143497	Human		name
597777044	CV3684123	single nucleotide variant	NM_002226.5(JAG2):c.3578C>T (p.Ala1193Val)	not specified [RCV004929769]	uncertain significance	14	105142834	105142834	Human		name
597777055	CV3684126	single nucleotide variant	NM_002226.5(JAG2):c.3023G>A (p.Arg1008His)	not specified [RCV004929772]	uncertain significance	14	105144991	105144991	Human		name
597777063	CV3684128	single nucleotide variant	NM_002226.5(JAG2):c.3515C>T (p.Ala1172Val)	not specified [RCV004929774]	uncertain significance	14	105142897	105142897	Human		name
597777066	CV3684129	single nucleotide variant	NM_002226.5(JAG2):c.3476G>A (p.Arg1159His)	not specified [RCV004929775]	uncertain significance	14	105142936	105142936	Human		name
597777092	CV3684136	single nucleotide variant	NM_002226.5(JAG2):c.3619C>T (p.Arg1207Cys)	not specified [RCV004929782]	likely benign	14	105142793	105142793	Human		name
597777096	CV3684137	single nucleotide variant	NM_002226.5(JAG2):c.3404G>A (p.Arg1135His)	not specified [RCV004929783]	uncertain significance	14	105143008	105143008	Human		name
597777104	CV3684139	single nucleotide variant	NM_002226.5(JAG2):c.3199G>A (p.Glu1067Lys)	not specified [RCV004929785]	uncertain significance	14	105143524	105143524	Human		name
597777108	CV3684140	single nucleotide variant	NM_002226.5(JAG2):c.3464C>G (p.Thr1155Arg)	not specified [RCV004929786]	uncertain significance	14	105142948	105142948	Human		name
597777126	CV3684145	single nucleotide variant	NM_002226.5(JAG2):c.3045C>G (p.Asp1015Glu)	not specified [RCV004929791]	uncertain significance	14	105144969	105144969	Human		name
597777156	CV3684153	single nucleotide variant	NM_002226.5(JAG2):c.3059G>A (p.Gly1020Glu)	not specified [RCV004929799]	uncertain significance	14	105144955	105144955	Human		name
597777164	CV3684155	single nucleotide variant	NM_002226.5(JAG2):c.3680G>C (p.Arg1227Thr)	not specified [RCV004929801]	uncertain significance	14	105142732	105142732	Human		name
597777168	CV3684156	single nucleotide variant	NM_002226.5(JAG2):c.3487G>A (p.Glu1163Lys)	not specified [RCV004929802]	uncertain significance	14	105142925	105142925	Human		name
598172288	CV3969273	single nucleotide variant	NM_002226.5(JAG2):c.3670C>T (p.Arg1224Cys)	not specified [RCV005370748]	uncertain significance	14	105142742	105142742	Human		name
598211930	CV3969276	single nucleotide variant	NM_002226.5(JAG2):c.3337C>T (p.Arg1113Trp)	not specified [RCV005358757]	uncertain significance	14	105143075	105143075	Human		name
598258542	CV3969277	single nucleotide variant	NM_002226.5(JAG2):c.3580G>A (p.Glu1194Lys)	not specified [RCV005347223]	uncertain significance	14	105142832	105142832	Human		name
598258558	CV3969284	single nucleotide variant	NM_002226.5(JAG2):c.3338G>T (p.Arg1113Leu)	not specified [RCV005347226]	uncertain significance	14	105143074	105143074	Human		name
598258572	CV3969288	single nucleotide variant	NM_002226.5(JAG2):c.3527A>C (p.Glu1176Ala)	not specified [RCV005347229]	uncertain significance	14	105142885	105142885	Human		name
598172338	CV3969293	single nucleotide variant	NM_002226.5(JAG2):c.3397C>G (p.Pro1133Ala)	not specified [RCV005370756]	uncertain significance	14	105143015	105143015	Human		name
598258587	CV3969295	single nucleotide variant	NM_002226.5(JAG2):c.3459C>A (p.Asn1153Lys)	not specified [RCV005347232]	uncertain significance	14	105142953	105142953	Human		name
598172355	CV3969297	single nucleotide variant	NM_002226.5(JAG2):c.3142G>T (p.Ala1048Ser)	not specified [RCV005370759]	uncertain significance	14	105143581	105143581	Human		name
616934128	CV4012130	single nucleotide variant	NM_002226.5(JAG2):c.3470C>T (p.Pro1157Leu)	not specified [RCV005409164]	uncertain significance	14	105142942	105142942	Human		name
15170073	CV702786	single nucleotide variant	NM_002226.5(JAG2):c.3349C>T (p.Arg1117Trp)	not provided [RCV000949582]	likely benign	14	105143063	105143063	Human		name
15163528	CV714030	single nucleotide variant	NM_002226.5(JAG2):c.3224C>T (p.Thr1075Met)	JAG2-related disorder [RCV003905994]\|not provided [RCV000970504]	benign	14	105143499	105143499	Human	1	name , trait , alternate_id
15144239	CV739141	single nucleotide variant	NM_002226.5(JAG2):c.3703G>A (p.Ala1235Thr)	JAG2-related disorder [RCV003975718]\|not provided [RCV000899970]	benign	14	105142709	105142709	Human	1	name , trait , alternate_id
152066150	CV1519385	deletion	NM_002226.5(JAG2):c.1219_1225del (p.Phe407fs)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV002074459]	pathogenic	14	105151325	105151331	Human	1	name
598122802	CV3889954	duplication	NM_002226.5(JAG2):c.3269_3314dup (p.Trp1105fs)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV005250471]	uncertain significance	14	105143097	105143098	Human	1	name
408383448	CV3518432	deletion	NM_002226.5(JAG2):c.2561_2569del (p.Pro854_Gly856del)	Muscular dystrophy, limb-girdle, autosomal recessive 27 [RCV004759755]	uncertain significance	14	105146635	105146643	Human	1	name

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