Rorc Variant Search Result - Rat Genome Database

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309 records found for search term Rorc

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
156356427	CV2020036	single nucleotide variant	NM_005060.4(RORC):c.40+7G>A	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002720566]	likely benign	1	151831718	151831718	Human	1	name
26895831	CV850724	single nucleotide variant	NM_005060.4(RORC):c.40+1G>A	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001069749]	uncertain significance	1	151831724	151831724	Human	1	name
127257798	CV1054740	single nucleotide variant	NM_005060.4(RORC):c.934-1G>A	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001379824]	likely pathogenic	1	151813621	151813621	Human	1	name
127330832	CV1109513	single nucleotide variant	NM_005060.4(RORC):c.156+9T>C	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001471186]	likely benign	1	151817186	151817186	Human	1	name
127300098	CV1153259	single nucleotide variant	NM_005060.4(RORC):c.812-9C>T	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001513975]\|RORC-related disorder [RCV003921103]	benign\|likely benign	1	151814704	151814704	Human	1	name , trait , alternate_id
127294776	CV1153260	single nucleotide variant	NM_005060.4(RORC):c.41-17C>T	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001511917]\|not provided [RCV004715436]\|not specified [RCV003399274]	benign	1	151829475	151829475	Human	1	name
151754821	CV1365432	single nucleotide variant	NM_005060.4(RORC):c.811+9C>G	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001872614]	likely benign\|uncertain significance	1	151814904	151814904	Human	1	name
151779476	CV1467577	single nucleotide variant	NM_005060.4(RORC):c.812-8G>A	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001971945]	uncertain significance	1	151814703	151814703	Human	1	name
152120660	CV1574287	single nucleotide variant	NM_005060.4(RORC):c.70+16G>A	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002175534]	likely benign	1	151829413	151829413	Human	1	name
152113522	CV1605875	single nucleotide variant	NM_005060.4(RORC):c.40+12A>G	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002116871]	likely benign	1	151831713	151831713	Human	1	name
152087041	CV1608471	single nucleotide variant	NM_005060.4(RORC):c.70+12G>C	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002212185]	likely benign	1	151829417	151829417	Human	1	name
152147996	CV1623758	duplication	NM_005060.4(RORC):c.40+18dup	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002157730]	likely benign	1	151831706	151831707	Human	1	name
152112896	CV1623759	single nucleotide variant	NM_005060.4(RORC):c.40+15G>C	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002134717]	likely benign	1	151831710	151831710	Human	1	name
152091345	CV1662174	single nucleotide variant	NM_005060.4(RORC):c.70+19G>C	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002132084]	benign	1	151829410	151829410	Human	1	name
156163641	CV2019578	single nucleotide variant	NM_005060.4(RORC):c.934-6C>T	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002710263]	likely benign	1	151813626	151813626	Human	1	name
405245159	CV3161642	single nucleotide variant	NM_005060.4(RORC):c.70+11G>C	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003868355]	likely benign	1	151829418	151829418	Human	1	name
597873121	CV3803407	single nucleotide variant	NM_005060.4(RORC):c.71-11C>T	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV005148004]	likely benign	1	151817291	151817291	Human	1	name
597931381	CV3863135	single nucleotide variant	NM_005060.4(RORC):c.70+15C>T	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV005205623]	likely benign	1	151829414	151829414	Human	1	name
151235317	CV1318586	single nucleotide variant	NM_005060.4(RORC):c.156+24A>C	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001794914]\|not provided [RCV004714341]\|not specified [RCV003401720]	benign	1	151817171	151817171	Human	1	name
152061069	CV1540962	single nucleotide variant	NM_005060.4(RORC):c.1285+8T>A	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002190531]	likely benign	1	151812939	151812939	Human	1	name
152129117	CV1549186	single nucleotide variant	NM_005060.4(RORC):c.1396-8A>G	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002099240]	likely benign	1	151807641	151807641	Human	1	name
152135763	CV1560460	single nucleotide variant	NM_005060.4(RORC):c.1396-4C>G	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002137521]	likely benign	1	151807637	151807637	Human	1	name
152035380	CV1584934	single nucleotide variant	NM_005060.4(RORC):c.933+13G>A	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002125240]	likely benign	1	151814561	151814561	Human	1	name
152072429	CV1597745	single nucleotide variant	NM_005060.4(RORC):c.1175-5A>T	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002169472]	likely benign	1	151813062	151813062	Human	1	name
152163253	CV1635871	single nucleotide variant	NM_005060.4(RORC):c.298+13C>T	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002203798]	likely benign	1	151816651	151816651	Human	1	name
152080278	CV1650009	single nucleotide variant	NM_005060.4(RORC):c.156+15T>C	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002092752]	likely benign	1	151817180	151817180	Human	1	name
156003367	CV1895781	duplication	NM_005060.4(RORC):c.156+17dup	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003098906]	likely benign	1	151817177	151817178	Human	1	name
156371467	CV1905429	single nucleotide variant	NM_005060.4(RORC):c.156+20A>C	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003092468]	likely benign	1	151817175	151817175	Human	1	name
156160777	CV1906888	single nucleotide variant	NM_005060.4(RORC):c.299-14T>C	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003082885]	likely benign	1	151815439	151815439	Human	1	name
156120039	CV1924054	single nucleotide variant	NM_005060.4(RORC):c.811+18T>C	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002640278]	likely benign	1	151814895	151814895	Human	1	name
156207299	CV2021528	single nucleotide variant	NM_005060.4(RORC):c.811+12G>A	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002711625]	likely benign	1	151814901	151814901	Human	1	name
156264624	CV2054077	single nucleotide variant	NM_005060.4(RORC):c.299-16C>T	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002792134]	likely benign	1	151815441	151815441	Human	1	name
155974228	CV2088666	deletion	NM_005060.4(RORC):c.1174+9del	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002863459]	likely benign	1	151813230	151813230	Human	1	name
401930915	CV2795628	single nucleotide variant	NM_005060.4(RORC):c.40+437C>G	not specified [RCV003391190]	benign	1	151831288	151831288	Human		name
401906997	CV2795702	single nucleotide variant	NM_005060.4(RORC):c.40+752C>A	not specified [RCV003397054]	benign	1	151830973	151830973	Human		name
401907108	CV2795706	single nucleotide variant	NM_005060.4(RORC):c.40+537G>A	not specified [RCV003397058]	benign	1	151831188	151831188	Human		name
404982492	CV2849113	single nucleotide variant	NM_005060.4(RORC):c.156+62G>A	not specified [RCV003488985]	benign	1	151817133	151817133	Human		name
404982823	CV2849119	single nucleotide variant	NM_005060.4(RORC):c.156+60G>A	not specified [RCV003488991]	benign	1	151817135	151817135	Human		name
405047042	CV2855415	single nucleotide variant	NM_005060.4(RORC):c.298+14G>A	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003592506]	likely benign	1	151816650	151816650	Human	1	name
405146368	CV3021630	single nucleotide variant	NM_005060.4(RORC):c.933+10G>A	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003755882]	likely benign	1	151814564	151814564	Human	1	name
405150965	CV3060350	single nucleotide variant	NM_005060.4(RORC):c.157-20C>G	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003756329]	likely benign	1	151816825	151816825	Human	1	name
597873138	CV3803420	single nucleotide variant	NM_005060.4(RORC):c.812-18T>C	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV005148017]	likely benign	1	151814713	151814713	Human	1	name
15119578	CV758816	single nucleotide variant	NM_005060.4(RORC):c.1067-4C>A	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000918166]\|not provided [RCV004715356]	benign	1	151813350	151813350	Human	1	name
15129964	CV786987	single nucleotide variant	NM_005060.4(RORC):c.157-10C>T	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001480132]	likely benign	1	151816815	151816815	Human	1	name
151744856	CV1432935	single nucleotide variant	NM_005060.4(RORC):c.1395+17G>A	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001968525]	likely benign	1	151811308	151811308	Human	1	name
152151725	CV1530546	single nucleotide variant	NM_005060.4(RORC):c.1067-13C>T	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002102328]	likely benign	1	151813359	151813359	Human	1	name
152095706	CV1575370	single nucleotide variant	NM_005060.4(RORC):c.1174+15G>A	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002132599]	likely benign	1	151813224	151813224	Human	1	name
152026382	CV1594469	single nucleotide variant	NM_005060.4(RORC):c.1286-11C>T	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002104538]	likely benign	1	151811445	151811445	Human	1	name
152150741	CV1605351	single nucleotide variant	NM_005060.4(RORC):c.1286-10C>G	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002102189]	likely benign	1	151811444	151811444	Human	1	name
156225474	CV2009449	single nucleotide variant	NM_005060.4(RORC):c.1174+15G>T	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002701167]	likely benign	1	151813224	151813224	Human	1	name
156117620	CV2042925	single nucleotide variant	NM_005060.4(RORC):c.1066+18G>A	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002800098]	uncertain significance	1	151813470	151813470	Human	1	name
156345459	CV2051843	single nucleotide variant	NM_005060.4(RORC):c.1396-20C>A	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002811438]	likely benign	1	151807653	151807653	Human	1	name
155965071	CV2085556	single nucleotide variant	NM_005060.4(RORC):c.1286-18T>A	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002881212]	likely benign	1	151811452	151811452	Human	1	name
401931322	CV2795675	single nucleotide variant	NM_005060.4(RORC):c.70+3610C>T	not specified [RCV003391237]	benign	1	151825819	151825819	Human		name
401906720	CV2795679	single nucleotide variant	NM_005060.4(RORC):c.1396-68G>A	not specified [RCV003397031]	benign	1	151807701	151807701	Human		name
597906258	CV3845429	single nucleotide variant	NM_005060.4(RORC):c.1285+12T>G	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV005181239]	likely benign	1	151812935	151812935	Human	1	name
597902803	CV3846449	single nucleotide variant	NM_005060.4(RORC):c.1395+19G>A	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV005177332]	likely benign	1	151811306	151811306	Human	1	name
15109013	CV786965	single nucleotide variant	NM_005060.4(RORC):c.1286-10C>T	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001429250]	likely benign	1	151811444	151811444	Human	1	name
401906804	CV2795717	single nucleotide variant	NM_005060.4(RORC):c.1395+113T>G	not specified [RCV003397069]	benign	1	151811212	151811212	Human		name
404983681	CV2849321	microsatellite	NM_005060.4(RORC):c.156+63CA[14]	not specified [RCV003489193]	benign	1	151817112	151817113	Human		name
401857293	CV2752167	deletion	NM_005060.4(RORC):c.821_933+84del	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003336044]	uncertain significance	1	151814490	151814686	Human	1	name
152162875	CV1606391	deletion	NM_005060.4(RORC):c.298+16_298+17del	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002181235]	likely benign	1	151816647	151816648	Human	1	name
155976914	CV2073127	single nucleotide variant	NM_005060.4(RORC):c.39G>T (p.Arg13=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002842334]	uncertain significance	1	151831726	151831726	Human	1	name
156309630	CV2082144	single nucleotide variant	NM_005060.4(RORC):c.30A>T (p.Arg10=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002898638]	likely benign	1	151831735	151831735	Human	1	name
13624958	CV515081	single nucleotide variant	NM_005060.4(RORC):c.33C>T (p.Ala11=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000652793]	benign	1	151831732	151831732	Human	1	name
26895540	CV822747	single nucleotide variant	NM_005060.4(RORC):c.8G>A (p.Arg3Lys)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001047927]	uncertain significance	1	151831757	151831757	Human	1	name
127265293	CV1066260	single nucleotide variant	NM_005060.4(RORC):c.264G>A (p.Leu88=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001403536]	likely benign	1	151816698	151816698	Human	1	name
127238818	CV1066261	single nucleotide variant	NM_005060.4(RORC):c.201C>T (p.Cys67=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001415171]	likely benign	1	151816761	151816761	Human	1	name
127268672	CV1087997	single nucleotide variant	NM_005060.4(RORC):c.114G>A (p.Ser38=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001430044]	likely benign	1	151817237	151817237	Human	1	name
152064733	CV1535861	single nucleotide variant	NM_005060.4(RORC):c.231C>T (p.Arg77=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002168480]	likely benign	1	151816731	151816731	Human	1	name
152113977	CV1574617	single nucleotide variant	NM_005060.4(RORC):c.240A>G (p.Arg80=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002116933]	likely benign	1	151816722	151816722	Human	1	name
152154387	CV1579472	single nucleotide variant	NM_005060.4(RORC):c.105G>A (p.Gly35=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002158654]	likely benign	1	151817246	151817246	Human	1	name
152046442	CV1591251	single nucleotide variant	NM_005060.4(RORC):c.189G>A (p.Ala63=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002188878]	likely benign	1	151816773	151816773	Human	1	name
152073288	CV1598863	single nucleotide variant	NM_005060.4(RORC):c.282G>A (p.Leu94=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002148377]	likely benign	1	151816680	151816680	Human	1	name
152152990	CV1610054	single nucleotide variant	NM_005060.4(RORC):c.108C>T (p.Asp36=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002179742]	likely benign	1	151817243	151817243	Human	1	name
152166195	CV1620836	single nucleotide variant	NM_005060.4(RORC):c.291C>T (p.Ser97=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002181885]	likely benign	1	151816671	151816671	Human	1	name
156000567	CV1872812	single nucleotide variant	NM_005060.4(RORC):c.129C>T (p.Tyr43=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003076563]	likely benign	1	151817222	151817222	Human	1	name
405046714	CV2854883	single nucleotide variant	NM_005060.4(RORC):c.165C>T (p.Phe55=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003592477]	likely benign	1	151816797	151816797	Human	1	name
405140285	CV2941589	single nucleotide variant	NM_005060.4(RORC):c.132G>T (p.Gly44=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003755142]	likely benign	1	151817219	151817219	Human	1	name
405152676	CV3070248	single nucleotide variant	NM_005060.4(RORC):c.183T>C (p.Cys61=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003756476]	likely benign	1	151816779	151816779	Human	1	name
405254164	CV3175011	single nucleotide variant	NM_005060.4(RORC):c.180C>T (p.Arg60=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003871463]	likely benign	1	151816782	151816782	Human	1	name
597866881	CV3791250	single nucleotide variant	NM_005060.4(RORC):c.243C>T (p.Asn81=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV005141282]	likely benign	1	151816719	151816719	Human	1	name
598219611	CV3906132	single nucleotide variant	NM_005060.4(RORC):c.26A>G (p.His9Arg)	Inborn genetic diseases [RCV005272115]	uncertain significance	1	151831739	151831739	Human	1	name
13500133	CV447131	single nucleotide variant	NM_005060.4(RORC):c.186C>T (p.Asn62=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000540237]\|not provided [RCV004714075]	benign	1	151816776	151816776	Human	1	name
14736836	CV626843	single nucleotide variant	NM_005060.4(RORC):c.20G>A (p.Arg7Lys)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000803780]	uncertain significance	1	151831745	151831745	Human	1	name
15144722	CV731730	single nucleotide variant	NM_005060.4(RORC):c.198C>G (p.Ser66=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001471943]	likely benign	1	151816764	151816764	Human	1	name
15098301	CV761208	single nucleotide variant	NM_005060.4(RORC):c.279G>A (p.Ala93=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000936250]	likely benign	1	151816683	151816683	Human	1	name
38497014	CV952071	single nucleotide variant	NM_005060.4(RORC):c.14C>G (p.Pro5Arg)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001242920]	uncertain significance	1	151831751	151831751	Human	1	name
126917297	CV1039452	single nucleotide variant	NM_005060.4(RORC):c.64C>T (p.His22Tyr)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001371995]\|Inborn genetic diseases [RCV004037519]\|not provided [RCV004691433]	uncertain significance	1	151829435	151829435	Human	2	name
127230180	CV1066257	single nucleotide variant	NM_005060.4(RORC):c.852A>T (p.Thr284=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001394609]	likely benign	1	151814655	151814655	Human	1	name
127268577	CV1066258	single nucleotide variant	NM_005060.4(RORC):c.471G>A (p.Gln157=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001404416]	likely benign	1	151815253	151815253	Human	1	name
127257772	CV1066259	single nucleotide variant	NM_005060.4(RORC):c.327G>A (p.Lys109=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001401552]	likely benign	1	151815397	151815397	Human	1	name
127267516	CV1087996	single nucleotide variant	NM_005060.4(RORC):c.420G>A (p.Gly140=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001429727]	likely benign	1	151815304	151815304	Human	1	name
127313815	CV1109509	single nucleotide variant	NM_005060.4(RORC):c.955C>A (p.Arg319=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001464761]	likely benign	1	151813599	151813599	Human	1	name
127317173	CV1109510	single nucleotide variant	NM_005060.4(RORC):c.864G>A (p.Arg288=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001465778]	likely benign	1	151814643	151814643	Human	1	name
127303033	CV1109511	single nucleotide variant	NM_005060.4(RORC):c.780G>A (p.Pro260=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001461842]	likely benign	1	151814944	151814944	Human	1	name
127332318	CV1109512	single nucleotide variant	NM_005060.4(RORC):c.378A>G (p.Gln126=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001472149]	likely benign	1	151815346	151815346	Human	1	name
127311196	CV1153258	single nucleotide variant	NM_005060.4(RORC):c.960T>C (p.Cys320=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001518527]	benign	1	151813594	151813594	Human	1	name
151754685	CV1340155	single nucleotide variant	NM_005060.4(RORC):c.29G>A (p.Arg10Gln)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001894684]\|Inborn genetic diseases [RCV002551034]	uncertain significance	1	151831736	151831736	Human	2	name
151751103	CV1378118	single nucleotide variant	NM_005060.4(RORC):c.67A>G (p.Thr23Ala)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002043292]	uncertain significance	1	151829432	151829432	Human	1	name
151888819	CV1402346	single nucleotide variant	NM_005060.4(RORC):c.83T>G (p.Val28Gly)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001942665]	uncertain significance	1	151817268	151817268	Human	1	name
152066372	CV1557007	single nucleotide variant	NM_005060.4(RORC):c.975C>T (p.Thr325=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002191223]	likely benign	1	151813579	151813579	Human	1	name
152069214	CV1570828	single nucleotide variant	NM_005060.4(RORC):c.558T>C (p.Tyr186=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002129381]	likely benign	1	151815166	151815166	Human	1	name
152162206	CV1608788	single nucleotide variant	NM_005060.4(RORC):c.438C>T (p.Thr146=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002104010]	likely benign	1	151815286	151815286	Human	1	name
152085481	CV1617305	single nucleotide variant	NM_005060.4(RORC):c.843C>T (p.Tyr281=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002076926]	likely benign	1	151814664	151814664	Human	1	name
152111491	CV1618409	single nucleotide variant	NM_005060.4(RORC):c.711G>A (p.Arg237=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002080311]\|not provided [RCV002156716]	likely benign	1	151815013	151815013	Human	1	name
152172603	CV1658664	single nucleotide variant	NM_005060.4(RORC):c.858G>A (p.Gln286=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002162516]	likely benign	1	151814649	151814649	Human	1	name
156361636	CV1881248	single nucleotide variant	NM_005060.4(RORC):c.855C>T (p.Cys285=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003065656]\|RORC-related disorder [RCV003926676]	likely benign	1	151814652	151814652	Human	1	name , trait , alternate_id
156212129	CV1955805	single nucleotide variant	NM_005060.4(RORC):c.675C>A (p.Thr225=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002575191]	likely benign	1	151815049	151815049	Human	1	name
156394909	CV1984498	single nucleotide variant	NM_005060.4(RORC):c.903C>G (p.Ser301=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002635385]	likely benign	1	151814604	151814604	Human	1	name
156018473	CV2019201	single nucleotide variant	NM_005060.4(RORC):c.498G>A (p.Leu166=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002690881]	likely benign	1	151815226	151815226	Human	1	name
155945430	CV2032686	single nucleotide variant	NM_005060.4(RORC):c.405G>A (p.Lys135=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002730373]	likely benign	1	151815319	151815319	Human	1	name
156114747	CV2065683	single nucleotide variant	NM_005060.4(RORC):c.429A>G (p.Gly143=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002871035]	likely benign	1	151815295	151815295	Human	1	name
156143217	CV2126031	single nucleotide variant	NM_005060.4(RORC):c.354G>A (p.Val118=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002954304]	likely benign	1	151815370	151815370	Human	1	name
156066910	CV2166965	single nucleotide variant	NM_005060.4(RORC):c.73C>G (p.Gln25Glu)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003019918]	uncertain significance	1	151817278	151817278	Human	1	name
405038477	CV2896568	single nucleotide variant	NM_005060.4(RORC):c.606T>C (p.Leu202=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003591289]	likely benign	1	151815118	151815118	Human	1	name
405141749	CV2955124	single nucleotide variant	NM_005060.4(RORC):c.918T>C (p.Thr306=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003755262]	likely benign	1	151814589	151814589	Human	1	name
405141282	CV2967014	single nucleotide variant	NM_005060.4(RORC):c.921C>T (p.Gly307=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003755325]	likely benign	1	151814586	151814586	Human	1	name
405141549	CV2971165	single nucleotide variant	NM_005060.4(RORC):c.504G>A (p.Glu168=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003755354]	likely benign	1	151815220	151815220	Human	1	name
405143397	CV2986124	single nucleotide variant	NM_005060.4(RORC):c.657C>T (p.Ser219=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003755562]	likely benign	1	151815067	151815067	Human	1	name
405142819	CV2987829	single nucleotide variant	NM_005060.4(RORC):c.865C>T (p.Leu289=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003755502]	likely benign	1	151814642	151814642	Human	1	name
405144025	CV3001613	single nucleotide variant	NM_005060.4(RORC):c.663C>T (p.Gly221=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003755623]	likely benign	1	151815061	151815061	Human	1	name
405153683	CV3074111	single nucleotide variant	NM_005060.4(RORC):c.687T>C (p.Cys229=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003756560]	likely benign	1	151815037	151815037	Human	1	name
405134694	CV3163930	single nucleotide variant	NM_005060.4(RORC):c.489G>T (p.Ser163=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003854918]	likely benign	1	151815235	151815235	Human	1	name
597842703	CV3775234	single nucleotide variant	NM_005060.4(RORC):c.456G>A (p.Gly152=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV005118060]	likely benign	1	151815268	151815268	Human	1	name
597854603	CV3778805	single nucleotide variant	NM_005060.4(RORC):c.423C>T (p.Ala141=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV005129150]	likely benign	1	151815301	151815301	Human	1	name
597917977	CV3840691	single nucleotide variant	NM_005060.4(RORC):c.819G>A (p.Leu273=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV005192984]	likely benign	1	151814688	151814688	Human	1	name
597931968	CV3862225	single nucleotide variant	NM_005060.4(RORC):c.570G>A (p.Leu190=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV005206466]	likely benign	1	151815154	151815154	Human	1	name
13489753	CV447134	single nucleotide variant	NM_005060.4(RORC):c.28C>T (p.Arg10Ter)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000555512]\|RORC-related disorder [RCV003925719]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	151831737	151831737	Human	5	name , trait , alternate_id
13489753	CV447134	single nucleotide variant	NM_005060.4(RORC):c.28C>T (p.Arg10Ter)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000555512]\|RORC-related disorder [RCV003925719]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	151831737	151831738	Human	5	name , trait , alternate_id
13624936	CV515082	single nucleotide variant	NM_005060.4(RORC):c.489G>A (p.Ser163=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000652790]	benign	1	151815235	151815235	Human	1	name
13624957	CV515129	single nucleotide variant	NM_005060.4(RORC):c.990C>T (p.Tyr330=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000652792]\|not provided [RCV001703228]	benign\|likely benign	1	151813564	151813564	Human	1	name
15162909	CV718216	single nucleotide variant	NM_005060.4(RORC):c.622C>A (p.Arg208=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000881854]\|RORC-related disorder [RCV003920555]	likely benign	1	151815102	151815102	Human	1	name , trait , alternate_id
15179187	CV731729	single nucleotide variant	NM_005060.4(RORC):c.612C>T (p.Tyr204=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000907051]	likely benign	1	151815112	151815112	Human	1	name
15152041	CV745691	single nucleotide variant	NM_005060.4(RORC):c.828C>T (p.Ser276=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001405990]	likely benign	1	151814679	151814679	Human	1	name
15202092	CV745692	single nucleotide variant	NM_005060.4(RORC):c.675C>G (p.Thr225=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001461713]	likely benign	1	151815049	151815049	Human	1	name
15111465	CV745693	single nucleotide variant	NM_005060.4(RORC):c.465C>T (p.Asp155=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000916735]	likely benign	1	151815259	151815259	Human	1	name
15174191	CV761205	single nucleotide variant	NM_005060.4(RORC):c.987G>A (p.Gln329=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001416697]	likely benign	1	151813567	151813567	Human	1	name
15112934	CV761206	single nucleotide variant	NM_005060.4(RORC):c.888C>T (p.Arg296=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000939034]	likely benign	1	151814619	151814619	Human	1	name
15201285	CV761207	single nucleotide variant	NM_005060.4(RORC):c.708C>T (p.His236=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000935620]	likely benign	1	151815016	151815016	Human	1	name
15130087	CV780332	single nucleotide variant	NM_005060.4(RORC):c.312C>T (p.Gly104=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001480137]	likely benign	1	151815412	151815412	Human	1	name
8628917	CV84060	single nucleotide variant	NM_005060.3(RORC):c.846G>A (p.Arg282=)	Malignant melanoma [RCV000064141]	not provided	1	151814661	151814661	Human		name
8628920	CV84063	single nucleotide variant	NM_005060.3(RORC):c.309C>T (p.Phe103=)	Malignant melanoma [RCV000064144]	not provided	1	151815415	151815415	Human		name
38479764	CV921644	single nucleotide variant	NM_005060.4(RORC):c.37C>T (p.Arg13Trp)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001217232]\|Inborn genetic diseases [RCV004034024]	uncertain significance	1	151831728	151831728	Human	2	name
38497117	CV941453	single nucleotide variant	NM_005060.4(RORC):c.35C>T (p.Ser12Leu)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001226853]\|RORC-related disorder [RCV003414024]	uncertain significance	1	151831730	151831730	Human	1	name , trait , alternate_id
38494474	CV952070	single nucleotide variant	NM_005060.4(RORC):c.38G>A (p.Arg13Gln)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001241332]\|Inborn genetic diseases [RCV004034677]	likely benign\|uncertain significance	1	151831727	151831727	Human	2	name
126729259	CV1002141	single nucleotide variant	NM_005060.4(RORC):c.188C>T (p.Ala63Val)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001312664]	uncertain significance	1	151816774	151816774	Human	1	name
126767174	CV1022625	single nucleotide variant	NM_005060.4(RORC):c.1488C>A (p.Ala496=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001342714]	likely benign\|uncertain significance	1	151807541	151807541	Human	1	name
127234154	CV1066255	single nucleotide variant	NM_005060.4(RORC):c.1401A>C (p.Pro467=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001414151]	likely benign	1	151807628	151807628	Human	1	name
127254226	CV1066256	single nucleotide variant	NM_005060.4(RORC):c.1101G>A (p.Arg367=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001418519]	likely benign	1	151813312	151813312	Human	1	name
127313574	CV1109508	single nucleotide variant	NM_005060.4(RORC):c.1014C>T (p.Leu338=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001464709]	likely benign	1	151813540	151813540	Human	1	name
127290382	CV1130410	single nucleotide variant	NM_005060.4(RORC):c.1512G>A (p.Glu504=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001495958]\|RORC-related disorder [RCV003980433]	likely benign	1	151807517	151807517	Human	1	name , trait , alternate_id
127312866	CV1130411	single nucleotide variant	NM_005060.4(RORC):c.1125G>T (p.Thr375=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001502032]	likely benign	1	151813288	151813288	Human	1	name
127321080	CV1153256	single nucleotide variant	NM_005060.4(RORC):c.1530C>T (p.Thr510=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001522938]	benign	1	151807499	151807499	Human	1	name
127306329	CV1153257	single nucleotide variant	NM_005060.4(RORC):c.1089T>C (p.Val363=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001516586]	benign	1	151813324	151813324	Human	1	name
151714293	CV1399503	single nucleotide variant	NM_005060.4(RORC):c.1062A>G (p.Lys354=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001908650]	uncertain significance	1	151813492	151813492	Human	1	name
151729717	CV1410161	single nucleotide variant	NM_005060.4(RORC):c.1485A>G (p.Gln495=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001910735]	likely benign\|uncertain significance	1	151807544	151807544	Human	1	name
151843802	CV1457672	single nucleotide variant	NM_005060.4(RORC):c.239G>A (p.Arg80Gln)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001936441]	uncertain significance	1	151816723	151816723	Human	1	name
152032093	CV1548918	single nucleotide variant	NM_005060.4(RORC):c.1227C>G (p.Ala409=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002086508]	likely benign	1	151813005	151813005	Human	1	name
152121240	CV1562470	single nucleotide variant	NM_005060.4(RORC):c.1404C>G (p.Pro468=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002098181]	likely benign	1	151807625	151807625	Human	1	name
152140803	CV1628829	single nucleotide variant	NM_005060.4(RORC):c.1002C>T (p.Phe334=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002100746]	likely benign	1	151813552	151813552	Human	1	name
152104379	CV1645436	single nucleotide variant	NM_005060.4(RORC):c.1185G>A (p.Glu395=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002133660]	likely benign	1	151813047	151813047	Human	1	name
156212979	CV1869087	single nucleotide variant	NM_005060.4(RORC):c.1032C>T (p.Leu344=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003058605]	likely benign	1	151813522	151813522	Human	1	name
156118216	CV1952513	single nucleotide variant	NM_005060.4(RORC):c.1464C>T (p.His488=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002571758]	likely benign	1	151807565	151807565	Human	1	name
156109365	CV1963630	single nucleotide variant	NM_005060.4(RORC):c.1098C>T (p.Cys366=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002571142]	likely benign	1	151813315	151813315	Human	1	name
156349379	CV1989337	single nucleotide variant	NM_005060.4(RORC):c.1227C>T (p.Ala409=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002631868]	likely benign	1	151813005	151813005	Human	1	name
156120141	CV2039422	single nucleotide variant	NM_005060.4(RORC):c.203C>T (p.Thr68Ile)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002800192]	uncertain significance	1	151816759	151816759	Human	1	name
10411870	CV214085	single nucleotide variant	NM_005060.4(RORC):c.113C>T (p.Ser38Leu)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000201419]	pathogenic	1	151817238	151817238	Human	1	name
405046478	CV2854763	single nucleotide variant	NM_005060.4(RORC):c.292C>T (p.Arg98Ter)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003592455]	pathogenic	1	151816670	151816670	Human	1	name
405054048	CV2886418	single nucleotide variant	NM_005060.4(RORC):c.1242G>A (p.Glu414=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003593128]	likely benign	1	151812990	151812990	Human	1	name
405038692	CV2909273	single nucleotide variant	NM_005060.4(RORC):c.1209C>T (p.Phe403=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003591439]	likely benign	1	151813023	151813023	Human	1	name
405145857	CV3006630	single nucleotide variant	NM_005060.4(RORC):c.1479G>A (p.Val493=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003755832]	likely benign	1	151807550	151807550	Human	1	name
405151014	CV3057341	single nucleotide variant	NM_005060.4(RORC):c.1017A>G (p.Ser339=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003756333]	likely benign	1	151813537	151813537	Human	1	name
405203937	CV3144039	single nucleotide variant	NM_005060.4(RORC):c.1323G>A (p.Gln441=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003844829]	likely benign	1	151811397	151811397	Human	1	name
597884865	CV3745501	single nucleotide variant	NM_005060.4(RORC):c.1530C>G (p.Thr510=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV005070337]	likely benign	1	151807499	151807499	Human	1	name
597962389	CV3753692	single nucleotide variant	NM_005060.4(RORC):c.1182C>T (p.Ser394=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV005081996]	likely benign	1	151813050	151813050	Human	1	name
597857537	CV3789934	single nucleotide variant	NM_005060.4(RORC):c.1347C>T (p.Ala449=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV005132013]	likely benign	1	151811373	151811373	Human	1	name
597923597	CV3860191	deletion	NM_005060.4(RORC):c.908del (p.Glu303fs)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV005198400]	pathogenic	1	151814599	151814599	Human	1	name
13624956	CV515075	single nucleotide variant	NM_005060.4(RORC):c.1125G>A (p.Thr375=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000652791]	likely benign	1	151813288	151813288	Human	1	name
13818121	CV556649	single nucleotide variant	NM_005060.4(RORC):c.253C>T (p.His85Tyr)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000707497]\|RORC-related disorder [RCV004751673]\|not provided [RCV004691289]	uncertain significance	1	151816709	151816709	Human	1	name , trait , alternate_id
14730433	CV626831	single nucleotide variant	NM_005060.4(RORC):c.1545G>T (p.Gly515=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000800954]	likely benign\|uncertain significance	1	151807484	151807484	Human	1	name
14707004	CV626835	single nucleotide variant	NM_005060.4(RORC):c.1284C>A (p.Ala428=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000808617]	uncertain significance	1	151812948	151812948	Human	1	name
14706866	CV626841	single nucleotide variant	NM_005060.4(RORC):c.245G>A (p.Arg82Gln)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000792128]\|Inborn genetic diseases [RCV003166089]	uncertain significance	1	151816717	151816717	Human	2	name
14735035	CV626842	single nucleotide variant	NM_005060.4(RORC):c.177G>C (p.Gln59His)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000819406]	uncertain significance	1	151816785	151816785	Human	1	name
15123835	CV731728	single nucleotide variant	NM_005060.4(RORC):c.1329G>A (p.Gln443=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001412184]\|RORC-related disorder [RCV003920845]	likely benign	1	151811391	151811391	Human	1	name , trait , alternate_id
15135091	CV745687	single nucleotide variant	NM_005060.4(RORC):c.1488C>T (p.Ala496=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002065958]	likely benign	1	151807541	151807541	Human	1	name
15101335	CV745689	single nucleotide variant	NM_005060.4(RORC):c.1239C>T (p.Ser413=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000914763]	likely benign	1	151812993	151812993	Human	1	name
15165074	CV745690	single nucleotide variant	NM_005060.4(RORC):c.1086G>C (p.Leu362=)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001398427]	likely benign	1	151813327	151813327	Human	1	name
26898881	CV822746	single nucleotide variant	NM_005060.4(RORC):c.226G>A (p.Asp76Asn)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001034822]	uncertain significance	1	151816736	151816736	Human	1	name
38475824	CV930041	single nucleotide variant	NM_005060.4(RORC):c.187G>A (p.Ala63Thr)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001204415]	uncertain significance	1	151816775	151816775	Human	1	name
126769354	CV1022626	single nucleotide variant	NM_005060.4(RORC):c.623G>A (p.Arg208Gln)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001343877]\|Inborn genetic diseases [RCV003169657]	uncertain significance	1	151815101	151815101	Human	2	name
126754654	CV1022627	single nucleotide variant	NM_005060.4(RORC):c.382C>G (p.Gln128Glu)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001338871]	uncertain significance	1	151815342	151815342	Human	1	name
126924475	CV1039451	single nucleotide variant	NM_005060.4(RORC):c.770G>A (p.Arg257His)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001367080]\|Inborn genetic diseases [RCV005271214]	uncertain significance	1	151814954	151814954	Human	2	name
151767106	CV1341423	single nucleotide variant	NM_005060.4(RORC):c.542G>C (p.Gly181Ala)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001874079]\|Inborn genetic diseases [RCV004038995]	uncertain significance	1	151815182	151815182	Human	2	name
151781795	CV1360329	single nucleotide variant	NM_005060.4(RORC):c.634G>A (p.Glu212Lys)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001865031]	uncertain significance	1	151815090	151815090	Human	1	name
151746521	CV1402089	single nucleotide variant	NM_005060.4(RORC):c.863G>A (p.Arg288Gln)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002042786]\|Inborn genetic diseases [RCV002642133]	uncertain significance	1	151814644	151814644	Human	2	name
151883138	CV1411795	single nucleotide variant	NM_005060.4(RORC):c.586A>C (p.Asn196His)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001962064]	uncertain significance	1	151815138	151815138	Human	1	name
151868827	CV1413388	single nucleotide variant	NM_005060.4(RORC):c.455G>C (p.Gly152Ala)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002018678]	uncertain significance	1	151815269	151815269	Human	1	name
151766853	CV1418904	single nucleotide variant	NM_005060.4(RORC):c.992T>C (p.Val331Ala)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001929134]	uncertain significance	1	151813562	151813562	Human	1	name
151773784	CV1427852	single nucleotide variant	NM_005060.4(RORC):c.779C>T (p.Pro260Leu)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001915232]	uncertain significance	1	151814945	151814945	Human	1	name
151816233	CV1433029	single nucleotide variant	NM_005060.4(RORC):c.719G>A (p.Gly240Glu)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001954309]	uncertain significance	1	151815005	151815005	Human	1	name
151713660	CV1464275	single nucleotide variant	NM_005060.4(RORC):c.373C>T (p.Arg125Trp)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001964790]	uncertain significance	1	151815351	151815351	Human	1	name
151862618	CV1474296	single nucleotide variant	NM_005060.4(RORC):c.683G>A (p.Arg228Gln)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001884123]	uncertain significance	1	151815041	151815041	Human	1	name
151829513	CV1491501	single nucleotide variant	NM_005060.4(RORC):c.587A>G (p.Asn196Ser)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002030659]	uncertain significance	1	151815137	151815137	Human	1	name
151800127	CV1494062	single nucleotide variant	NM_005060.4(RORC):c.829G>A (p.Val277Ile)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001952843]	uncertain significance	1	151814678	151814678	Human	1	name
151767373	CV1496188	single nucleotide variant	NM_005060.4(RORC):c.395C>G (p.Pro132Arg)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001863743]	uncertain significance	1	151815329	151815329	Human	1	name
151869004	CV1497515	single nucleotide variant	NM_005060.4(RORC):c.858G>T (p.Gln286His)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001960185]	uncertain significance	1	151814649	151814649	Human	1	name
156355069	CV1880192	single nucleotide variant	NM_005060.4(RORC):c.662G>A (p.Gly221Asp)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003065168]	uncertain significance	1	151815062	151815062	Human	1	name
156130385	CV1889385	single nucleotide variant	NM_005060.4(RORC):c.394C>A (p.Pro132Thr)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003081812]	uncertain significance	1	151815330	151815330	Human	1	name
156411368	CV1893144	single nucleotide variant	NM_005060.4(RORC):c.370C>G (p.Gln124Glu)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003072450]	uncertain significance	1	151815354	151815354	Human	1	name
156385940	CV1893928	single nucleotide variant	NM_005060.4(RORC):c.769C>T (p.Arg257Cys)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003093685]	uncertain significance	1	151814955	151814955	Human	1	name
156217914	CV1903475	single nucleotide variant	NM_005060.4(RORC):c.718G>A (p.Gly240Arg)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003084873]	uncertain significance	1	151815006	151815006	Human	1	name
156388582	CV1983247	single nucleotide variant	NM_005060.4(RORC):c.887G>A (p.Arg296His)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002634792]	uncertain significance	1	151814620	151814620	Human	1	name
156006219	CV1984497	single nucleotide variant	NM_005060.4(RORC):c.916A>T (p.Thr306Ser)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002618679]	uncertain significance	1	151814591	151814591	Human	1	name
156215431	CV2047516	single nucleotide variant	NM_005060.4(RORC):c.313C>T (p.Arg105Cys)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002790415]	uncertain significance	1	151815411	151815411	Human	1	name
155990995	CV2049557	single nucleotide variant	NM_005060.4(RORC):c.718G>C (p.Gly240Arg)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002819204]	uncertain significance	1	151815006	151815006	Human	1	name
156094132	CV2054629	single nucleotide variant	NM_005060.4(RORC):c.803C>G (p.Thr268Arg)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002824301]	uncertain significance	1	151814921	151814921	Human	1	name
155921933	CV2102453	single nucleotide variant	NM_005060.4(RORC):c.661G>A (p.Gly221Ser)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002903394]	uncertain significance	1	151815063	151815063	Human	1	name
156238466	CV2115711	single nucleotide variant	NM_005060.4(RORC):c.965A>G (p.His322Arg)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002919208]	uncertain significance	1	151813589	151813589	Human	1	name
156380481	CV2117949	single nucleotide variant	NM_005060.4(RORC):c.596C>T (p.Ser199Leu)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002943102]	uncertain significance	1	151815128	151815128	Human	1	name
156270355	CV2135287	single nucleotide variant	NM_005060.4(RORC):c.494A>G (p.Asp165Gly)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002988801]	uncertain significance	1	151815230	151815230	Human	1	name
10411867	CV214086	single nucleotide variant	NM_005060.4(RORC):c.985C>T (p.Gln329Ter)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000201359]	pathogenic	1	151813569	151813569	Human	1	name
155911694	CV2152235	single nucleotide variant	NM_005060.4(RORC):c.517C>T (p.Pro173Ser)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002991368]	uncertain significance	1	151815207	151815207	Human	1	name
156129063	CV2184916	single nucleotide variant	NM_005060.4(RORC):c.485C>T (p.Ser162Phe)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003039623]	uncertain significance	1	151815239	151815239	Human	1	name
156353698	CV2190616	single nucleotide variant	NM_005060.4(RORC):c.814C>T (p.His272Tyr)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003048523]	uncertain significance	1	151814693	151814693	Human	1	name
155945482	CV2269634	single nucleotide variant	NM_005060.4(RORC):c.923A>T (p.Tyr308Phe)	Inborn genetic diseases [RCV002839776]	uncertain significance	1	151814584	151814584	Human	1	name
156268751	CV2326326	single nucleotide variant	NM_005060.4(RORC):c.787C>A (p.Pro263Thr)	Inborn genetic diseases [RCV002960202]	uncertain significance	1	151814937	151814937	Human	1	name
155954851	CV2389831	single nucleotide variant	NM_005060.4(RORC):c.881G>A (p.Arg294Gln)	Inborn genetic diseases [RCV002753418]	uncertain significance	1	151814626	151814626	Human	1	name
329381582	CV2441438	single nucleotide variant	NM_005060.4(RORC):c.653A>T (p.Tyr218Phe)	Inborn genetic diseases [RCV003175775]	uncertain significance	1	151815071	151815071	Human	1	name
329376287	CV2465465	single nucleotide variant	NM_005060.4(RORC):c.776C>T (p.Thr259Ile)	Inborn genetic diseases [RCV003211480]	uncertain significance	1	151814948	151814948	Human	1	name
405146585	CV3025577	single nucleotide variant	NM_005060.4(RORC):c.682C>T (p.Arg228Ter)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003755902]	pathogenic	1	151815042	151815042	Human	1	name
405150160	CV3049863	single nucleotide variant	NM_005060.4(RORC):c.442A>G (p.Thr148Ala)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003756142]\|Inborn genetic diseases [RCV004953426]	likely benign\|uncertain significance	1	151815282	151815282	Human	2	name
407487223	CV3479904	single nucleotide variant	NM_005060.4(RORC):c.677C>A (p.Pro226His)	Inborn genetic diseases [RCV004665625]	uncertain significance	1	151815047	151815047	Human	1	name
597719197	CV3586967	single nucleotide variant	NM_005060.4(RORC):c.469C>A (p.Gln157Lys)	Inborn genetic diseases [RCV004960291]	uncertain significance	1	151815255	151815255	Human	1	name
597719205	CV3586968	single nucleotide variant	NM_005060.4(RORC):c.409C>A (p.Pro137Thr)	Inborn genetic diseases [RCV004960292]	uncertain significance	1	151815315	151815315	Human	1	name
597881590	CV3744931	single nucleotide variant	NM_005060.4(RORC):c.695G>A (p.Arg232His)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV005069956]	uncertain significance	1	151815029	151815029	Human	1	name
597911755	CV3852229	single nucleotide variant	NM_005060.4(RORC):c.976G>A (p.Glu326Lys)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV005186826]	uncertain significance	1	151813578	151813578	Human	1	name
597924990	CV3854929	single nucleotide variant	NM_005060.4(RORC):c.634G>C (p.Glu212Gln)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV005199775]	uncertain significance	1	151815090	151815090	Human	1	name
597925402	CV3859435	single nucleotide variant	NM_005060.4(RORC):c.598T>G (p.Cys200Gly)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV005200091]	uncertain significance	1	151815126	151815126	Human	1	name
598219594	CV3906135	single nucleotide variant	NM_005060.4(RORC):c.716C>T (p.Pro239Leu)	Inborn genetic diseases [RCV005272118]	uncertain significance	1	151815008	151815008	Human	1	name
598219591	CV3906136	single nucleotide variant	NM_005060.4(RORC):c.499C>A (p.Pro167Thr)	Inborn genetic diseases [RCV005272119]	uncertain significance	1	151815225	151815225	Human	1	name
13482187	CV447201	single nucleotide variant	NM_005060.4(RORC):c.749G>A (p.Ser250Asn)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000529290]\|not provided [RCV003409825]	likely benign	1	151814975	151814975	Human	1	name
13624891	CV515079	single nucleotide variant	NM_005060.4(RORC):c.595T>C (p.Ser199Pro)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000652788]	uncertain significance	1	151815129	151815129	Human	1	name
14735255	CV626837	single nucleotide variant	NM_005060.4(RORC):c.754G>A (p.Gly252Ser)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000819503]\|Inborn genetic diseases [RCV004958161]	uncertain significance	1	151814970	151814970	Human	2	name
14718229	CV626838	single nucleotide variant	NM_005060.4(RORC):c.694C>T (p.Arg232Cys)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000795736]	uncertain significance	1	151815030	151815030	Human	1	name
14714187	CV626839	single nucleotide variant	NM_005060.4(RORC):c.598T>C (p.Cys200Arg)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000794337]\|Inborn genetic diseases [RCV004027483]	uncertain significance	1	151815126	151815126	Human	2	name
14723300	CV626840	single nucleotide variant	NM_005060.4(RORC):c.560C>G (p.Ser187Cys)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000797903]\|Inborn genetic diseases [RCV003243305]	uncertain significance	1	151815164	151815164	Human	2	name
26916596	CV822742	single nucleotide variant	NM_005060.4(RORC):c.737A>C (p.Gln246Pro)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001056447]\|Inborn genetic diseases [RCV004960386]	uncertain significance	1	151814987	151814987	Human	2	name
26915466	CV822743	single nucleotide variant	NM_005060.4(RORC):c.711G>T (p.Arg237Ser)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001041366]	uncertain significance	1	151815013	151815013	Human	1	name
26919056	CV822744	single nucleotide variant	NM_005060.4(RORC):c.686G>A (p.Cys229Tyr)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001058561]	uncertain significance	1	151815038	151815038	Human	1	name
26918862	CV822745	single nucleotide variant	NM_005060.4(RORC):c.394C>T (p.Pro132Ser)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001058345]	uncertain significance	1	151815330	151815330	Human	1	name
8628918	CV84061	single nucleotide variant	NM_005060.3(RORC):c.845G>A (p.Arg282Lys)	Malignant melanoma [RCV000064142]	not provided	1	151814662	151814662	Human		name
8628919	CV84062	single nucleotide variant	NM_005060.3(RORC):c.409C>T (p.Pro137Ser)	Malignant melanoma [RCV000064143]	not provided	1	151815315	151815315	Human		name
38461351	CV918557	single nucleotide variant	NM_005060.4(RORC):c.931A>C (p.Lys311Gln)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001197549]	uncertain significance	1	151814576	151814576	Human	1	name
38493054	CV921641	single nucleotide variant	NM_005060.4(RORC):c.407C>A (p.Thr136Asn)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001224003]\|Inborn genetic diseases [RCV004032494]	uncertain significance	1	151815317	151815317	Human	2	name
38485742	CV921642	single nucleotide variant	NM_005060.4(RORC):c.374G>A (p.Arg125Gln)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001219986]\|Inborn genetic diseases [RCV004659405]	likely benign\|uncertain significance	1	151815350	151815350	Human	2	name
38485438	CV921643	single nucleotide variant	NM_005060.4(RORC):c.334G>A (p.Asp112Asn)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001219781]	uncertain significance	1	151815390	151815390	Human	1	name
38474612	CV930038	single nucleotide variant	NM_005060.4(RORC):c.697T>C (p.Phe233Leu)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001203894]	uncertain significance	1	151815027	151815027	Human	1	name
38463503	CV930039	single nucleotide variant	NM_005060.4(RORC):c.580G>A (p.Gly194Arg)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001201430]	uncertain significance	1	151815144	151815144	Human	1	name
38459535	CV930040	single nucleotide variant	NM_005060.4(RORC):c.466G>A (p.Gly156Arg)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001211656]\|Inborn genetic diseases [RCV004033823]	uncertain significance	1	151815258	151815258	Human	2	name
8689351	CV97439	single nucleotide variant	NM_005060.4(RORC):c.422C>T (p.Ala141Val)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001065352]\|not provided [RCV000122518]	uncertain significance	1	151815302	151815302	Human	1	name
126754841	CV986908	single nucleotide variant	NM_005060.4(RORC):c.905G>A (p.Arg302Gln)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001307723]	uncertain significance	1	151814602	151814602	Human	1	name
126757466	CV986909	single nucleotide variant	NM_005060.4(RORC):c.880C>T (p.Arg294Trp)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001298892]	uncertain significance	1	151814627	151814627	Human	1	name
126765783	CV1002140	single nucleotide variant	NM_005060.4(RORC):c.1468C>T (p.His490Tyr)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001320181]	uncertain significance	1	151807561	151807561	Human	1	name
126740112	CV1015532	single nucleotide variant	NM_005060.4(RORC):c.1535C>G (p.Ser512Ter)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001329360]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	151807494	151807494	Human	1	name
126913209	CV1039450	single nucleotide variant	NM_005060.4(RORC):c.1288C>T (p.Arg430Trp)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001370015]	uncertain significance	1	151811432	151811432	Human	1	name
151755724	CV1365560	single nucleotide variant	NM_005060.4(RORC):c.1124C>T (p.Thr375Met)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001872701]\|Inborn genetic diseases [RCV002551137]	uncertain significance	1	151813289	151813289	Human	2	name
151831812	CV1446986	single nucleotide variant	NM_005060.4(RORC):c.1250T>C (p.Ile417Thr)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001880379]	uncertain significance	1	151812982	151812982	Human	1	name
151801527	CV1449517	single nucleotide variant	NM_005060.4(RORC):c.1407G>C (p.Lys469Asn)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002048024]	uncertain significance	1	151807622	151807622	Human	1	name
151768003	CV1450732	single nucleotide variant	NM_005060.4(RORC):c.1121G>A (p.Arg374His)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001929241]	uncertain significance	1	151813292	151813292	Human	1	name
151872696	CV1480713	single nucleotide variant	NM_005060.4(RORC):c.1198A>G (p.Ile400Val)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001906693]	uncertain significance	1	151813034	151813034	Human	1	name
151871867	CV1487781	single nucleotide variant	NM_005060.4(RORC):c.1447C>G (p.Leu483Val)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001981405]	uncertain significance	1	151807582	151807582	Human	1	name
151761874	CV1496508	single nucleotide variant	NM_005060.4(RORC):c.1267C>G (p.Leu423Val)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001895420]	uncertain significance	1	151812965	151812965	Human	1	name
156366589	CV1906495	single nucleotide variant	NM_005060.4(RORC):c.1120C>T (p.Arg374Cys)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003092104]	uncertain significance	1	151813293	151813293	Human	1	name
156387607	CV1982938	single nucleotide variant	NM_005060.4(RORC):c.1489G>A (p.Ala497Thr)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002634720]	uncertain significance	1	151807540	151807540	Human	1	name
156330834	CV2004383	single nucleotide variant	NM_005060.4(RORC):c.1045C>A (p.Gln349Lys)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002649809]	uncertain significance	1	151813509	151813509	Human	1	name
156100559	CV2117153	single nucleotide variant	NM_005060.4(RORC):c.1193G>C (p.Ser398Thr)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV002952725]	uncertain significance	1	151813039	151813039	Human	1	name
10411869	CV214087	single nucleotide variant	NM_005060.4(RORC):c.1321C>T (p.Gln441Ter)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000201397]	pathogenic\|uncertain significance	1	151811399	151811399	Human	1	name
156287041	CV2172324	single nucleotide variant	NM_005060.4(RORC):c.1225G>A (p.Ala409Thr)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003027527]	uncertain significance	1	151813007	151813007	Human	1	name
156012354	CV2172348	single nucleotide variant	NM_005060.4(RORC):c.1531G>A (p.Glu511Lys)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003035310]	uncertain significance	1	151807498	151807498	Human	1	name
11525755	CV246864	single nucleotide variant	NM_005060.4(RORC):c.1477G>A (p.Val493Met)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001324956]\|not provided [RCV004808653]\|not specified [RCV000238770]	uncertain significance	1	151807552	151807552	Human	1	name
401855196	CV2752783	single nucleotide variant	NM_005060.4(RORC):c.1165C>T (p.Arg389Ter)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003337837]	likely pathogenic	1	151813248	151813248	Human	1	name
404983155	CV2849245	indel	NM_005060.4(RORC):c.156+62delinsACACACACA	not specified [RCV003489117]	benign	1	151817133	151817133	Human		name
405053000	CV2891565	single nucleotide variant	NM_005060.4(RORC):c.1151G>C (p.Gly384Ala)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003592950]	uncertain significance	1	151813262	151813262	Human	1	name
596945394	CV3547891	single nucleotide variant	NM_005060.4(RORC):c.1323G>T (p.Gln441His)	not provided [RCV004809222]	uncertain significance	1	151811397	151811397	Human		name
598219598	CV3906134	single nucleotide variant	NM_005060.4(RORC):c.1249A>T (p.Ile417Phe)	Inborn genetic diseases [RCV005272117]	uncertain significance	1	151812983	151812983	Human	1	name
13624892	CV515074	single nucleotide variant	NM_005060.4(RORC):c.1247A>G (p.Glu416Gly)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000652789]	uncertain significance	1	151812985	151812985	Human	1	name
13624890	CV515206	single nucleotide variant	NM_005060.4(RORC):c.1070C>T (p.Ala357Val)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000652787]	likely benign\|uncertain significance	1	151813343	151813343	Human	1	name
14710858	CV626832	single nucleotide variant	NM_005060.4(RORC):c.1456T>A (p.Phe486Ile)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000793258]	uncertain significance	1	151807573	151807573	Human	1	name
14740804	CV626833	single nucleotide variant	NM_005060.4(RORC):c.1328A>C (p.Gln443Pro)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000821977]	uncertain significance	1	151811392	151811392	Human	1	name
14720127	CV626834	single nucleotide variant	NM_005060.4(RORC):c.1285C>T (p.His429Tyr)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000812904]\|not provided [RCV004691308]	uncertain significance	1	151812947	151812947	Human	1	name
14736926	CV626836	single nucleotide variant	NM_005060.4(RORC):c.1099C>G (p.Arg367Gly)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000803819]	uncertain significance	1	151813314	151813314	Human	1	name
15098145	CV696095	single nucleotide variant	NM_005060.4(RORC):c.1391C>G (p.Ala464Gly)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000958487]\|RORC-related disorder [RCV004751834]\|not provided [RCV001702864]\|not specified [RCV001726389]	benign\|likely benign	1	151811329	151811329	Human	1	name , trait , alternate_id
15177877	CV718215	single nucleotide variant	NM_005060.4(RORC):c.1406A>G (p.Lys469Arg)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000884930]	benign	1	151807623	151807623	Human	1	name
15105599	CV745688	single nucleotide variant	NM_005060.4(RORC):c.1334A>G (p.Asn445Ser)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV000915579]	likely benign	1	151811386	151811386	Human	1	name
26906953	CV822736	single nucleotide variant	NM_005060.4(RORC):c.1490C>T (p.Ala497Val)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001037724]	uncertain significance	1	151807539	151807539	Human	1	name
26905545	CV822737	single nucleotide variant	NM_005060.4(RORC):c.1391C>T (p.Ala464Val)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001051336]	uncertain significance	1	151811329	151811329	Human	1	name
26900807	CV822738	single nucleotide variant	NM_005060.4(RORC):c.1358A>T (p.His453Leu)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001035431]	uncertain significance	1	151811362	151811362	Human	1	name
26921335	CV822739	single nucleotide variant	NM_005060.4(RORC):c.1356T>A (p.His452Gln)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001060896]	uncertain significance	1	151811364	151811364	Human	1	name
26900017	CV822740	single nucleotide variant	NM_005060.4(RORC):c.1118A>G (p.Asn373Ser)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001071141]\|RORC-related disorder [RCV003413895]	uncertain significance	1	151813295	151813295	Human	1	name , trait , alternate_id
26903550	CV822741	single nucleotide variant	NM_005060.4(RORC):c.1003G>T (p.Ala335Ser)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001036223]	uncertain significance	1	151813551	151813551	Human	1	name
38478313	CV930037	single nucleotide variant	NM_005060.4(RORC):c.1304A>G (p.Glu435Gly)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001205492]\|Inborn genetic diseases [RCV004960532]	uncertain significance	1	151811416	151811416	Human	2	name
38490969	CV952069	single nucleotide variant	NM_005060.4(RORC):c.1142A>T (p.Lys381Ile)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001239159]	uncertain significance	1	151813271	151813271	Human	1	name
126752281	CV986907	single nucleotide variant	NM_005060.4(RORC):c.1427G>C (p.Cys476Ser)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001307197]\|Inborn genetic diseases [RCV004960733]	uncertain significance	1	151807602	151807602	Human	2	name
404981874	CV2848962	microsatellite	NM_005060.4(RORC):c.156+61_156+62insCACACACA	not specified [RCV003488833]	benign	1	151817133	151817134	Human		name
404983550	CV2849291	microsatellite	NM_005060.4(RORC):c.156+73_156+74insCACACACT	not specified [RCV003489163]	benign	1	151817121	151817122	Human		name
404983675	CV2849322	microsatellite	NM_005060.4(RORC):c.156+79_156+80insCACACACG	not specified [RCV003489194]	benign	1	151817115	151817116	Human		name
404984404	CV2849371	microsatellite	NM_005060.4(RORC):c.156+81_156+82insCACACACT	not specified [RCV003489243]	benign	1	151817113	151817114	Human		name
404983871	CV2849372	microsatellite	NM_005060.4(RORC):c.156+71_156+72insCACACACT	not specified [RCV003489244]	benign	1	151817123	151817124	Human		name

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