Nlrc4 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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828 records found for search term Nlrc4

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
127318973	CV1112806	single nucleotide variant	NM_001199138.2(NLRC4):c.2-8C>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001466415]	likely benign	2	32252687	32252687	Human	2	name
151711472	CV1395084	single nucleotide variant	NM_001199138.2(NLRC4):c.1+5G>T	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001964389]	uncertain significance	2	32256770	32256770	Human	2	name
153304115	CV1686792	single nucleotide variant	NM_001199138.2(NLRC4):c.-10A>T	Autoinflammatory syndrome [RCV002262079]	uncertain significance	2	32256785	32256785	Human	1	name
153304148	CV1686815	single nucleotide variant	NM_001199138.2(NLRC4):c.-48A>G	Autoinflammatory syndrome [RCV002262102]	likely benign	2	32256823	32256823	Human	1	name
156213081	CV2114593	single nucleotide variant	NM_001199138.2(NLRC4):c.2-2A>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002932142]	likely benign	2	32252681	32252681	Human	2	name
155913604	CV2153554	single nucleotide variant	NM_001199138.2(NLRC4):c.2-6C>T	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003012435]	likely benign	2	32252685	32252685	Human	2	name
407574324	CV3498673	single nucleotide variant	NM_001199138.2(NLRC4):c.*13C>G	not specified [RCV004703149]	uncertain significance	2	32224460	32224460	Human		name
597924145	CV3877249	single nucleotide variant	NM_001199138.2(NLRC4):c.2-4T>C	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005223945]	likely benign	2	32252683	32252683	Human	2	name
150504701	CV1211446	deletion	NM_001199138.2(NLRC4):c.1+50del	not provided [RCV001595611]\|not specified [RCV003394157]	benign	2	32256725	32256725	Human		name
152071159	CV1552040	single nucleotide variant	NM_001199138.2(NLRC4):c.2-11C>T	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002148096]	likely benign	2	32252690	32252690	Human	2	name
152088522	CV1577215	single nucleotide variant	NM_001199138.2(NLRC4):c.1+10T>A	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002212396]	likely benign	2	32256765	32256765	Human	2	name
152166009	CV1661131	single nucleotide variant	NM_001199138.2(NLRC4):c.1+11G>T	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002124141]	likely benign	2	32256764	32256764	Human	2	name
401931283	CV2795619	single nucleotide variant	NM_001199138.2(NLRC4):c.1+49A>T	not specified [RCV003391181]	benign	2	32256726	32256726	Human		name
8648650	CV108811	single nucleotide variant	NM_001199138.2(NLRC4):c.2-130C>G	not provided [RCV000089336]	not provided	2	32252809	32252809	Human		name
8648651	CV108812	single nucleotide variant	NM_001199138.2(NLRC4):c.2-212C>T	not provided [RCV000089337]	not provided	2	32252891	32252891	Human		name
127265171	CV1091298	single nucleotide variant	NM_001199138.2(NLRC4):c.263-9C>T	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001429008]	likely benign	2	32251610	32251610	Human	2	name
127317542	CV1133708	single nucleotide variant	NM_001199138.2(NLRC4):c.262+8T>A	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001503417]	likely benign	2	32252411	32252411	Human	2	name
151832380	CV1396138	single nucleotide variant	NM_001199138.2(NLRC4):c.262+4A>T	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001901936]	uncertain significance	2	32252415	32252415	Human	2	name
404993249	CV2852664	single nucleotide variant	NM_001199138.2(NLRC4):c.263-3T>C	not specified [RCV003490844]	uncertain significance	2	32251604	32251604	Human		name
14699403	CV624762	single nucleotide variant	NM_001199138.2(NLRC4):c.263-7C>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001440500]\|not provided [RCV000788753]	likely benign\|uncertain significance	2	32251608	32251608	Human	2	name
127233195	CV1069564	single nucleotide variant	NM_001199138.2(NLRC4):c.2258-8T>C	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001413785]	likely benign	2	32241133	32241133	Human	2	name
8648645	CV108806	single nucleotide variant	NM_001199138.2(NLRC4):c.-118-1G>A	not provided [RCV000089331]	not provided	2	32256894	32256894	Human		name
127291319	CV1112804	single nucleotide variant	NM_001199138.2(NLRC4):c.263-15C>A	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001476037]	likely benign	2	32251616	32251616	Human	2	name
127307703	CV1154141	single nucleotide variant	NM_001199138.2(NLRC4):c.2350+9T>C	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001517223]	benign	2	32241024	32241024	Human	2	name
150529113	CV1288663	single nucleotide variant	NM_001199138.2(NLRC4):c.2258-3C>G	not provided [RCV001727131]	uncertain significance	2	32241128	32241128	Human		name
151800412	CV1344068	single nucleotide variant	NM_001199138.2(NLRC4):c.2614+6A>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002028036]	uncertain significance	2	32236241	32236241	Human	2	name
151860868	CV1374126	single nucleotide variant	NM_001199138.2(NLRC4):c.2522-7T>A	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001938524]	uncertain significance	2	32236346	32236346	Human	2	name
151834018	CV1384776	single nucleotide variant	NM_001199138.2(NLRC4):c.262+12T>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001955963]	likely benign\|uncertain significance	2	32252407	32252407	Human	2	name
151886915	CV1471834	single nucleotide variant	NM_001199138.2(NLRC4):c.2614+1G>A	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002000777]	uncertain significance	2	32236246	32236246	Human	2	name
152036737	CV1521753	single nucleotide variant	NM_001199138.2(NLRC4):c.262+20G>C	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002187627]	likely benign	2	32252399	32252399	Human	2	name
152076401	CV1551448	deletion	NM_001199138.2(NLRC4):c.2350+9del	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002192467]	likely benign	2	32241024	32241024	Human	2	name
152070893	CV1551962	single nucleotide variant	NM_001199138.2(NLRC4):c.2351-9A>C	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002148060]	likely benign	2	32238311	32238311	Human	2	name
152031869	CV1624514	single nucleotide variant	NM_001199138.2(NLRC4):c.2258-6T>C	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002186789]	likely benign	2	32241131	32241131	Human	2	name
152073678	CV1633354	single nucleotide variant	NM_001199138.2(NLRC4):c.263-20C>T	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002129929]	likely benign	2	32251621	32251621	Human	2	name
152028593	CV1642856	single nucleotide variant	NM_001199138.2(NLRC4):c.263-12C>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002185888]	likely benign	2	32251613	32251613	Human	2	name
156323503	CV2163058	single nucleotide variant	NM_001199138.2(NLRC4):c.2351-8T>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003029332]	uncertain significance	2	32238310	32238310	Human	2	name
401911081	CV2815668	single nucleotide variant	NM_001199138.2(NLRC4):c.-118-3C>G	not provided [RCV003425570]	uncertain significance	2	32256896	32256896	Human		name
405052620	CV3084669	single nucleotide variant	NM_001199138.2(NLRC4):c.262+10A>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003798076]	likely benign	2	32252409	32252409	Human	2	name
405052078	CV3084750	single nucleotide variant	NM_001199138.2(NLRC4):c.263-11T>C	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003798157]	likely benign	2	32251612	32251612	Human	2	name
402508615	CV3088823	single nucleotide variant	NM_001199138.2(NLRC4):c.2614+7A>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003780027]	likely benign	2	32236240	32236240	Human	2	name
404994097	CV3091591	single nucleotide variant	NM_001199138.2(NLRC4):c.2782+9A>T	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003793066]	likely benign	2	32235392	32235392	Human	2	name
405060644	CV3102803	single nucleotide variant	NM_001199138.2(NLRC4):c.263-19A>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003798793]	likely benign	2	32251620	32251620	Human	2	name
405015743	CV3106952	single nucleotide variant	NM_001199138.2(NLRC4):c.2258-5G>C	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003795122]	likely benign	2	32241130	32241130	Human	2	name
597858155	CV3864758	single nucleotide variant	NM_001199138.2(NLRC4):c.2257+1G>A	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005213814]	uncertain significance	2	32249606	32249606	Human	2	name
597860994	CV3874762	single nucleotide variant	NM_001199138.2(NLRC4):c.2521+1G>A	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005214103]	uncertain significance	2	32238131	32238131	Human	2	name
597839829	CV3877583	single nucleotide variant	NM_001199138.2(NLRC4):c.2351-8T>C	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005226237]	likely benign	2	32238310	32238310	Human	2	name
597915170	CV3878944	single nucleotide variant	NM_001199138.2(NLRC4):c.2257+2T>C	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005222480]	uncertain significance	2	32249605	32249605	Human	2	name
13624588	CV518203	single nucleotide variant	NM_001199138.2(NLRC4):c.2615-8T>C	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652412]	likely benign	2	32235576	32235576	Human	2	name
13624620	CV518256	single nucleotide variant	NM_001199138.2(NLRC4):c.2350+9T>A	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652420]	likely benign	2	32241024	32241024	Human	2	name
15186978	CV743937	single nucleotide variant	NM_001199138.2(NLRC4):c.2614+9G>A	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000908962]	likely benign	2	32236238	32236238	Human	2	name
15183100	CV774832	single nucleotide variant	NM_001199138.2(NLRC4):c.2522-4C>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001484770]	likely benign	2	32236343	32236343	Human	2	name
15118559	CV774839	single nucleotide variant	NM_001199138.2(NLRC4):c.2257+7T>C	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000940031]	likely benign	2	32249600	32249600	Human	2	name
15123878	CV787210	single nucleotide variant	NM_001199138.2(NLRC4):c.2522-8T>C	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001423017]	likely benign	2	32236347	32236347	Human	2	name
8648511	CV108671	single nucleotide variant	NM_001199138.2(NLRC4):c.2614+63A>G	not provided [RCV000089196]	not provided	2	32236184	32236184	Human		name
8648654	CV108815	single nucleotide variant	NM_001199138.2(NLRC4):c.2522-35A>T	not provided [RCV000089340]	not provided	2	32236374	32236374	Human		name
8648656	CV108817	single nucleotide variant	NM_001199138.2(NLRC4):c.2782+38G>C	not provided [RCV000089342]	not provided	2	32235363	32235363	Human		name
8648657	CV108818	single nucleotide variant	NM_001199138.2(NLRC4):c.2782+81C>T	not provided [RCV000089343]	not provided	2	32235320	32235320	Human		name
127329750	CV1133705	single nucleotide variant	NM_001199138.2(NLRC4):c.2257+10A>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001487663]	likely benign	2	32249597	32249597	Human	2	name
127308546	CV1154139	single nucleotide variant	NM_001199138.2(NLRC4):c.2614+12A>T	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001517547]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001732199]\|not provided [RCV001729933]	benign\|likely benign	2	32236235	32236235	Human	2	name
127292679	CV1154140	duplication	NM_001199138.2(NLRC4):c.2522-13dup	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001510921]	benign	2	32236345	32236346	Human	2	name
150464975	CV1215367	single nucleotide variant	NM_001199138.2(NLRC4):c.2350+73T>C	not provided [RCV001614066]\|not specified [RCV003394164]	benign	2	32240960	32240960	Human		name
150451447	CV1254828	single nucleotide variant	NM_001199138.2(NLRC4):c.2783-45A>T	not provided [RCV001667887]	benign	2	32224810	32224810	Human		name
152170004	CV1546853	single nucleotide variant	NM_001199138.2(NLRC4):c.2257+20T>A	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002142978]	benign	2	32249587	32249587	Human	2	name
152053656	CV1595908	single nucleotide variant	NM_001199138.2(NLRC4):c.2257+17T>C	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002072680]	likely benign	2	32249590	32249590	Human	2	name
152047669	CV1627427	single nucleotide variant	NM_001199138.2(NLRC4):c.2350+12G>C	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002108541]	likely benign	2	32241021	32241021	Human	2	name
152038954	CV1647896	single nucleotide variant	NM_001199138.2(NLRC4):c.2258-15T>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002087666]	likely benign	2	32241140	32241140	Human	2	name
155983733	CV1883802	single nucleotide variant	NM_001199138.2(NLRC4):c.2350+18A>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003075787]	likely benign	2	32241015	32241015	Human	2	name
156440375	CV1943428	single nucleotide variant	NM_001199138.2(NLRC4):c.2782+18G>T	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003110407]	likely benign	2	32235383	32235383	Human	2	name
155986579	CV1979621	single nucleotide variant	NM_001199138.2(NLRC4):c.2782+19A>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002617833]	likely benign	2	32235382	32235382	Human	2	name
156009972	CV2042795	single nucleotide variant	NM_001199138.2(NLRC4):c.2258-19A>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002756629]	likely benign	2	32241144	32241144	Human	2	name
156023278	CV2184738	single nucleotide variant	NM_001199138.2(NLRC4):c.2257+20T>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003035837]	likely benign	2	32249587	32249587	Human	2	name
156369139	CV2190594	single nucleotide variant	NM_001199138.2(NLRC4):c.2350+15C>A	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003066158]	likely benign	2	32241018	32241018	Human	2	name
329352386	CV2476786	duplication	NM_001199138.2(NLRC4):c.2350+36dup	not provided [RCV003223018]	benign\|likely benign	2	32240996	32240997	Human		name
402502392	CV3089719	single nucleotide variant	NM_001199138.2(NLRC4):c.2522-11T>C	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003788642]	likely benign	2	32236350	32236350	Human	2	name
405007647	CV3096197	single nucleotide variant	NM_001199138.2(NLRC4):c.2615-20C>A	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003794347]	likely benign	2	32235588	32235588	Human	2	name
404978358	CV3099011	single nucleotide variant	NM_001199138.2(NLRC4):c.2521+12T>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003790991]	likely benign	2	32238120	32238120	Human	2	name
405066383	CV3103398	single nucleotide variant	NM_001199138.2(NLRC4):c.2351-18C>T	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003799228]	likely benign	2	32238320	32238320	Human	2	name
405059323	CV3105911	single nucleotide variant	NM_001199138.2(NLRC4):c.2351-11T>C	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003798714]	likely benign	2	32238313	32238313	Human	2	name
405038044	CV3106351	single nucleotide variant	NM_001199138.2(NLRC4):c.2782+18G>A	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797042]	likely benign	2	32235383	32235383	Human	2	name
405128936	CV3110844	single nucleotide variant	NM_001199138.2(NLRC4):c.2783-13T>A	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003815723]	likely benign	2	32224778	32224778	Human	2	name
597837129	CV3866745	single nucleotide variant	NM_001199138.2(NLRC4):c.2258-11T>C	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005225736]	likely benign	2	32241136	32241136	Human	2	name
597893722	CV3868207	single nucleotide variant	NM_001199138.2(NLRC4):c.2351-12A>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005219236]	likely benign	2	32238314	32238314	Human	2	name
597881225	CV3869097	single nucleotide variant	NM_001199138.2(NLRC4):c.2257+15A>C	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005217353]	likely benign	2	32249592	32249592	Human	2	name
597877755	CV3871797	single nucleotide variant	NM_001199138.2(NLRC4):c.2257+16G>A	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005216848]	likely benign	2	32249591	32249591	Human	2	name
597837035	CV3874534	single nucleotide variant	NM_001199138.2(NLRC4):c.2782+16C>T	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005210455]	likely benign	2	32235385	32235385	Human	2	name
597860521	CV3874805	single nucleotide variant	NM_001199138.2(NLRC4):c.2783-20A>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005214146]	likely benign	2	32224785	32224785	Human	2	name
597857839	CV3877870	single nucleotide variant	NM_001199138.2(NLRC4):c.2614+15T>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005229179]	benign	2	32236232	32236232	Human	2	name
597857976	CV3877887	duplication	NM_001199138.2(NLRC4):c.2783-14dup	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005229196]	likely benign	2	32224778	32224779	Human	2	name
597929679	CV3879241	single nucleotide variant	NM_001199138.2(NLRC4):c.2782+13A>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005224738]	likely benign	2	32235388	32235388	Human	2	name
597914834	CV3880189	single nucleotide variant	NM_001199138.2(NLRC4):c.2350+15C>G	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005222429]	likely benign	2	32241018	32241018	Human	2	name
12902436	CV405724	microsatellite	NM_001199138.2(NLRC4):c.1+4_1+7del	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001042860]\|not provided [RCV000487085]	uncertain significance	2	32256768	32256771	Human		name
8648652	CV108813	single nucleotide variant	NM_001199138.2(NLRC4):c.2350+283T>C	not provided [RCV000089338]	not provided	2	32240750	32240750	Human		name
8648653	CV108814	single nucleotide variant	NM_001199138.2(NLRC4):c.2521+132A>T	not provided [RCV000089339]	not provided	2	32238000	32238000	Human		name
8648655	CV108816	single nucleotide variant	NM_001199138.2(NLRC4):c.2782+102T>C	not provided [RCV000089341]	not provided	2	32235299	32235299	Human		name
150503483	CV1223759	duplication	NM_001199138.2(NLRC4):c.2615-151dup	not provided [RCV001621408]	benign	2	32235710	32235711	Human		name
150497909	CV1256788	single nucleotide variant	NM_001199138.2(NLRC4):c.2782+122T>C	not provided [RCV001676280]	benign	2	32235279	32235280	Human	1	name
150497909	CV1256788	single nucleotide variant	NM_001199138.2(NLRC4):c.2782+122T>C	not provided [RCV001676280]	benign	2	32235279	32235279	Human	1	name
156405645	CV1884524	single nucleotide variant	NM_001199138.2(NLRC4):c.21T>C (p.Asn7=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003070087]	likely benign	2	32252660	32252660	Human	2	name
151747831	CV1362400	single nucleotide variant	NM_001199138.2(NLRC4):c.8T>C (p.Phe3Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001968848]	uncertain significance	2	32252673	32252673	Human	2	name
156157974	CV1967734	single nucleotide variant	NM_001199138.2(NLRC4):c.81A>G (p.Leu27=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002594365]	likely benign	2	32252600	32252600	Human	2	name
156063354	CV1975259	single nucleotide variant	NM_001199138.2(NLRC4):c.78C>T (p.Asp26=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002591049]	likely benign	2	32252603	32252603	Human	2	name
15098042	CV747608	single nucleotide variant	NM_001199138.2(NLRC4):c.30C>T (p.Ala10=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000914153]\|not provided [RCV001311919]	likely benign	2	32252651	32252651	Human	2	name
126766805	CV1004033	single nucleotide variant	NM_001199138.2(NLRC4):c.26G>A (p.Arg9Gln)	Inborn genetic diseases [RCV004035010]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001320595]	likely benign\|uncertain significance	2	32252655	32252655	Human	3	name
126917483	CV1041464	deletion	NM_001199138.2(NLRC4):c.88del (p.Trp30fs)	NLRC4-related disorder [RCV003416262]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001361196]	likely benign\|uncertain significance	2	32252593	32252593	Human	2	name , trait , alternate_id
127230315	CV1069569	single nucleotide variant	NM_001199138.2(NLRC4):c.207T>C (p.Phe69=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001412435]	likely benign	2	32252474	32252474	Human	2	name
8648658	CV108819	single nucleotide variant	NM_001199138.2(NLRC4):c.297C>T (p.Asp99=)	NLRC4-related disorder [RCV003915116]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001489814]\|not provided [RCV000089344]	likely benign\|not provided	2	32251567	32251567	Human	2	name , trait , alternate_id
127277527	CV1091299	single nucleotide variant	NM_001199138.2(NLRC4):c.249C>T (p.Asp83=)	Autoinflammatory syndrome [RCV002264321]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001444468]\|not provided [RCV003334053]	likely benign\|uncertain significance	2	32252432	32252432	Human	3	name
127249372	CV1091300	single nucleotide variant	NM_001199138.2(NLRC4):c.105C>T (p.Arg35=)	Autoinflammatory syndrome [RCV002264320]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001436076]	likely benign\|uncertain significance	2	32252576	32252576	Human	3	name
127303561	CV1112805	single nucleotide variant	NM_001199138.2(NLRC4):c.201C>T (p.Asn67=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001454785]	likely benign	2	32252480	32252480	Human	2	name
127310705	CV1133710	single nucleotide variant	NM_001199138.2(NLRC4):c.126C>T (p.Cys42=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001501428]	likely benign	2	32252555	32252555	Human	2	name
151794719	CV1338395	single nucleotide variant	NM_001199138.2(NLRC4):c.261A>G (p.Gln87=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001898510]	uncertain significance	2	32252420	32252420	Human	2	name
152133287	CV1585220	single nucleotide variant	NM_001199138.2(NLRC4):c.120C>A (p.Ile40=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002083161]	likely benign	2	32252561	32252561	Human	2	name
152113697	CV1659502	single nucleotide variant	NM_001199138.2(NLRC4):c.186T>C (p.Gly62=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002080599]	likely benign	2	32252495	32252495	Human	2	name
153304117	CV1686793	single nucleotide variant	NM_001199138.2(NLRC4):c.114A>G (p.Val38=)	Autoinflammatory syndrome [RCV002262080]	uncertain significance	2	32252567	32252567	Human	1	name
153304130	CV1686802	single nucleotide variant	NM_001199138.2(NLRC4):c.195C>A (p.Ser65=)	Autoinflammatory syndrome [RCV002262089]	uncertain significance	2	32252486	32252486	Human	1	name
153304134	CV1686805	single nucleotide variant	NM_001199138.2(NLRC4):c.21T>G (p.Asn7Lys)	Autoinflammatory syndrome [RCV002262092]	uncertain significance	2	32252660	32252660	Human	1	name
156391940	CV1991410	single nucleotide variant	NM_001199138.2(NLRC4):c.153T>C (p.Ala51=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002635077]	likely benign	2	32252528	32252528	Human	2	name
156102285	CV2180147	single nucleotide variant	NM_001199138.2(NLRC4):c.132G>A (p.Glu44=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003054770]	likely benign	2	32252549	32252549	Human	2	name
405022720	CV3081855	single nucleotide variant	NM_001199138.2(NLRC4):c.189A>C (p.Ser63=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003785461]	likely benign	2	32252492	32252492	Human	2	name
15150738	CV733454	single nucleotide variant	NM_001199138.2(NLRC4):c.240A>G (p.Leu80=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001472394]	likely benign	2	32252441	32252441	Human	2	name
15131652	CV763207	single nucleotide variant	NM_001199138.2(NLRC4):c.123T>C (p.Ile41=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001087163]\|not provided [RCV000942263]	likely benign	2	32252558	32252558	Human	2	name
38492854	CV922764	single nucleotide variant	NM_001199138.2(NLRC4):c.129C>T (p.Cys43=)	Autoinflammatory syndrome [RCV002264234]\|NLRC4-related disorder [RCV003963132]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001223843]	likely benign\|uncertain significance	2	32252552	32252552	Human	3	name , trait , alternate_id
127231113	CV1069567	single nucleotide variant	NM_001199138.2(NLRC4):c.999T>C (p.Asn333=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001412903]	likely benign	2	32250865	32250865	Human	2	name
127332789	CV1112799	single nucleotide variant	NM_001199138.2(NLRC4):c.951T>A (p.Leu317=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001472496]	likely benign	2	32250913	32250913	Human	2	name
127326862	CV1112801	single nucleotide variant	NM_001199138.2(NLRC4):c.753T>C (p.Asn251=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001468893]	likely benign	2	32251111	32251111	Human	2	name
127292312	CV1112802	single nucleotide variant	NM_001199138.2(NLRC4):c.603C>T (p.Phe201=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001458938]	likely benign	2	32251261	32251261	Human	2	name
127303940	CV1133706	single nucleotide variant	NM_001199138.2(NLRC4):c.855G>A (p.Arg285=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001479355]	likely benign	2	32251009	32251009	Human	2	name
127306394	CV1133707	single nucleotide variant	NM_001199138.2(NLRC4):c.480T>C (p.Ala160=)	Autoinflammatory syndrome [RCV002264347]\|NLRC4-related disorder [RCV003900660]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001480042]	likely benign	2	32251384	32251384	Human	3	name , trait , alternate_id
150477930	CV1218702	deletion	NM_001199138.2(NLRC4):c.2783-42_2783-38del	not provided [RCV001616329]	benign	2	32224803	32224807	Human		name
150498913	CV1224500	deletion	NM_001199138.2(NLRC4):c.2783-41_2783-38del	not provided [RCV001620330]\|not specified [RCV003399431]	benign	2	32224803	32224806	Human		name
150487085	CV1251464	duplication	NM_001199138.2(NLRC4):c.2783-48_2783-46dup	not provided [RCV001674135]\|not specified [RCV003394199]	benign	2	32224810	32224811	Human		name
150497798	CV1256769	deletion	NM_001199138.2(NLRC4):c.2783-40_2783-37del	not provided [RCV001676261]	benign	2	32224802	32224805	Human		name
150506961	CV1258098	duplication	NM_001199138.2(NLRC4):c.2783-54_2783-51dup	not provided [RCV001678315]	benign	2	32224810	32224811	Human		name
151881144	CV1339501	single nucleotide variant	NM_001199138.2(NLRC4):c.73G>A (p.Asp25Asn)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001999592]	uncertain significance	2	32252608	32252608	Human	2	name
151736637	CV1387891	single nucleotide variant	NM_001199138.2(NLRC4):c.97C>G (p.Leu33Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002005375]	uncertain significance	2	32252584	32252584	Human	2	name
152046396	CV1527040	single nucleotide variant	NM_001199138.2(NLRC4):c.816G>A (p.Lys272=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002166322]	likely benign	2	32251048	32251048	Human	2	name
152109987	CV1551049	single nucleotide variant	NM_001199138.2(NLRC4):c.918G>A (p.Gln306=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002152922]	likely benign	2	32250946	32250946	Human	2	name
152117331	CV1556125	single nucleotide variant	NM_001199138.2(NLRC4):c.315A>G (p.Leu105=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002216314]	likely benign	2	32251549	32251549	Human	2	name
152154514	CV1560797	single nucleotide variant	NM_001199138.2(NLRC4):c.837T>C (p.Thr279=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002102740]	likely benign	2	32251027	32251027	Human	2	name
152100426	CV1568098	deletion	NM_001199138.2(NLRC4):c.2615-13_2615-12del	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002115264]	likely benign	2	32235580	32235581	Human	2	name
152069005	CV1570737	single nucleotide variant	NM_001199138.2(NLRC4):c.564C>T (p.Ser188=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002129354]	likely benign	2	32251300	32251300	Human	2	name
152136548	CV1580275	single nucleotide variant	NM_001199138.2(NLRC4):c.411T>G (p.Pro137=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002156212]	likely benign	2	32251453	32251453	Human	2	name
152123638	CV1587285	single nucleotide variant	NM_001199138.2(NLRC4):c.513T>G (p.Ser171=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002136033]	likely benign	2	32251351	32251351	Human	2	name
152142911	CV1607451	single nucleotide variant	NM_001199138.2(NLRC4):c.744T>C (p.Asp248=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002101024]	likely benign	2	32251120	32251120	Human	2	name
152098130	CV1627012	single nucleotide variant	NM_001199138.2(NLRC4):c.909C>T (p.Asp303=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002095138]	likely benign	2	32250955	32250955	Human	2	name
152039835	CV1644013	single nucleotide variant	NM_001199138.2(NLRC4):c.486G>A (p.Gln162=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002125923]	likely benign	2	32251378	32251378	Human	2	name
153304146	CV1686813	single nucleotide variant	NM_001199138.2(NLRC4):c.333C>G (p.Thr111=)	Autoinflammatory syndrome [RCV002262100]	uncertain significance	2	32251531	32251531	Human	1	name
153304147	CV1686814	single nucleotide variant	NM_001199138.2(NLRC4):c.459C>G (p.Thr153=)	Autoinflammatory syndrome [RCV002262101]	likely benign	2	32251405	32251405	Human	1	name
153304153	CV1686818	single nucleotide variant	NM_001199138.2(NLRC4):c.597C>T (p.Phe199=)	Autoinflammatory syndrome [RCV002262105]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003774823]	uncertain significance	2	32251267	32251267	Human	3	name
153304154	CV1686819	single nucleotide variant	NM_001199138.2(NLRC4):c.648C>A (p.Leu216=)	Autoinflammatory syndrome [RCV002262106]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003774824]	likely benign\|uncertain significance	2	32251216	32251216	Human	3	name
156412510	CV1890645	single nucleotide variant	NM_001199138.2(NLRC4):c.415C>T (p.Leu139=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003072924]	likely benign	2	32251449	32251449	Human	2	name
156417920	CV1920717	single nucleotide variant	NM_001199138.2(NLRC4):c.645C>T (p.Thr215=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002611089]	likely benign	2	32251219	32251219	Human	2	name
155955268	CV1936299	single nucleotide variant	NM_001199138.2(NLRC4):c.984C>G (p.Ser328=)	not provided [RCV002511963]	likely benign	2	32250880	32250880	Human		name
156449436	CV1941371	single nucleotide variant	NM_001199138.2(NLRC4):c.687G>A (p.Lys229=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003121558]	likely benign	2	32251177	32251177	Human	2	name
156207415	CV1959388	single nucleotide variant	NM_001199138.2(NLRC4):c.633A>C (p.Gly211=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002575015]	likely benign	2	32251231	32251231	Human	2	name
156382054	CV1960932	single nucleotide variant	NM_001199138.2(NLRC4):c.301T>C (p.Leu101=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002583245]	likely benign	2	32251563	32251563	Human	2	name
156025622	CV2043466	single nucleotide variant	NM_001199138.2(NLRC4):c.964T>C (p.Leu322=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002780881]	likely benign	2	32250900	32250900	Human	2	name
401725994	CV2736025	single nucleotide variant	NM_001199138.2(NLRC4):c.876C>T (p.Ala292=)	not provided [RCV003312470]	likely benign	2	32250988	32250988	Human		name
401929441	CV2815667	single nucleotide variant	NM_001199138.2(NLRC4):c.561C>A (p.Gly187=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003778407]\|not provided [RCV003407195]	likely benign	2	32251303	32251303	Human	2	name
405021887	CV3088134	single nucleotide variant	NM_001199138.2(NLRC4):c.585C>G (p.Thr195=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003795694]	likely benign	2	32251279	32251279	Human	2	name
404981171	CV3099715	single nucleotide variant	NM_001199138.2(NLRC4):c.852G>A (p.Leu284=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003791544]	likely benign	2	32251012	32251012	Human	2	name
402523810	CV3102572	single nucleotide variant	NM_001199138.2(NLRC4):c.768G>A (p.Gln256=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003790666]	likely benign	2	32251096	32251096	Human	2	name
405174491	CV3104888	single nucleotide variant	NM_001199138.2(NLRC4):c.591C>T (p.Phe197=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003803386]	uncertain significance	2	32251273	32251273	Human	2	name
405091893	CV3105166	single nucleotide variant	NM_001199138.2(NLRC4):c.52A>G (p.Thr18Ala)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003801049]	uncertain significance	2	32252629	32252629	Human	2	name
405033913	CV3105854	single nucleotide variant	NM_001199138.2(NLRC4):c.456G>A (p.Leu152=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003796705]	likely benign	2	32251408	32251408	Human	2	name
405040747	CV3106712	single nucleotide variant	NM_001199138.2(NLRC4):c.459C>T (p.Thr153=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797241]	likely benign	2	32251405	32251405	Human	2	name
405082502	CV3107482	deletion	NM_001199138.2(NLRC4):c.265del (p.Leu89fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003800352]	likely benign	2	32251599	32251599	Human	2	name
405053326	CV3107686	single nucleotide variant	NM_001199138.2(NLRC4):c.825C>A (p.Val275=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003808431]	likely benign	2	32251039	32251039	Human	2	name
597895836	CV3865575	single nucleotide variant	NM_001199138.2(NLRC4):c.525G>A (p.Lys175=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005219553]	likely benign	2	32251339	32251339	Human	2	name
597838848	CV3867596	single nucleotide variant	NM_001199138.2(NLRC4):c.92A>G (p.Asn31Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005210791]	uncertain significance	2	32252589	32252589	Human	2	name
597867686	CV3869332	single nucleotide variant	NM_001199138.2(NLRC4):c.594A>G (p.Lys198=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005215262]	likely benign	2	32251270	32251270	Human	2	name
597866018	CV3872583	single nucleotide variant	NM_001199138.2(NLRC4):c.28G>T (p.Ala10Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005214858]	uncertain significance	2	32252653	32252653	Human	2	name
597865370	CV3872619	single nucleotide variant	NM_001199138.2(NLRC4):c.969C>T (p.Leu323=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005214894]	likely benign	2	32250895	32250895	Human	2	name
597850842	CV3873320	single nucleotide variant	NM_001199138.2(NLRC4):c.414C>T (p.Val138=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005212762]	likely benign	2	32251450	32251450	Human	2	name
597837321	CV3874611	single nucleotide variant	NM_001199138.2(NLRC4):c.49A>G (p.Met17Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005210532]	uncertain significance	2	32252632	32252632	Human	2	name
12896803	CV389502	single nucleotide variant	NM_001199138.2(NLRC4):c.543A>C (p.Arg181=)	Familial cold autoinflammatory syndrome 4 [RCV001782916]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001511111]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001782915]\|not provided [RCV001824777]\|not specified [RCV000455841]	benign\|not provided	2	32251321	32251321	Human	2	name
13624560	CV518218	single nucleotide variant	NM_001199138.2(NLRC4):c.90G>A (p.Trp30Ter)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652410]	pathogenic\|likely benign\|uncertain significance	2	32252591	32252591	Human	2	name
13803635	CV558456	duplication	NM_001199138.2(NLRC4):c.213dup (p.Ser72fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000685008]	uncertain significance	2	32252467	32252468	Human	2	name
15110647	CV719854	single nucleotide variant	NM_001199138.2(NLRC4):c.912C>T (p.Ser304=)	NLRC4-related disorder [RCV003930860]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000894108]\|not specified [RCV004689920]	likely benign	2	32250952	32250952	Human	2	name , trait , alternate_id
15188717	CV763204	single nucleotide variant	NM_001199138.2(NLRC4):c.444C>T (p.Arg148=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001426153]	likely benign	2	32251420	32251420	Human	2	name
15189933	CV763205	single nucleotide variant	NM_001199138.2(NLRC4):c.432A>G (p.Gln144=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000932380]	likely benign	2	32251432	32251432	Human	2	name
15148415	CV763206	single nucleotide variant	NM_001199138.2(NLRC4):c.327C>T (p.Tyr109=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001493540]	likely benign	2	32251537	32251537	Human	2	name
15113923	CV781319	single nucleotide variant	NM_001199138.2(NLRC4):c.966G>A (p.Leu322=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000978114]	likely benign	2	32250898	32250898	Human	2	name
15116086	CV781320	single nucleotide variant	NM_001199138.2(NLRC4):c.945G>A (p.Lys315=)	Autoinflammatory syndrome [RCV002264127]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001484322]	likely benign\|uncertain significance	2	32250919	32250919	Human	3	name
15139853	CV781321	single nucleotide variant	NM_001199138.2(NLRC4):c.549C>T (p.Ala183=)	Autoinflammatory syndrome [RCV002264134]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002549592]	likely benign\|uncertain significance	2	32251315	32251315	Human	3	name
26921249	CV826464	single nucleotide variant	NM_001199138.2(NLRC4):c.59T>C (p.Ile20Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001060818]	uncertain significance	2	32252622	32252622	Human	2	name
402509626	CV988770	deletion	NM_001199138.2(NLRC4):c.182del (p.Lys61fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003780151]	uncertain significance	2	32252499	32252499	Human	2	name
127282964	CV1069563	single nucleotide variant	NM_001199138.2(NLRC4):c.2391T>C (p.His797=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001411484]	likely benign	2	32238262	32238262	Human	2	name
127230097	CV1069565	single nucleotide variant	NM_001199138.2(NLRC4):c.1776C>T (p.Pro592=)	Autoinflammatory syndrome [RCV002264295]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001394564]\|not specified [RCV005408887]	likely benign	2	32250088	32250088	Human	3	name
127252748	CV1069566	single nucleotide variant	NM_001199138.2(NLRC4):c.1386T>C (p.His462=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001418145]	likely benign	2	32250478	32250478	Human	2	name
127273472	CV1069568	single nucleotide variant	NM_001199138.2(NLRC4):c.208C>T (p.Leu70Phe)	NLRC4-related disorder [RCV003946067]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001406076]	likely benign	2	32252473	32252473	Human	2	name , trait , alternate_id
8648646	CV108807	single nucleotide variant	NM_001199138.2(NLRC4):c.1122C>T (p.Asn374=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001079581]\|not provided [RCV000089332]	benign\|not provided	2	32250742	32250742	Human	2	name
8648647	CV108808	single nucleotide variant	NM_001199138.2(NLRC4):c.1530A>G (p.Ala510=)	NLRC4-related disorder [RCV004748578]\|not provided [RCV000089333]	likely benign\|not provided	2	32250334	32250334	Human	1	name , trait , alternate_id
127269698	CV1091292	single nucleotide variant	NM_001199138.2(NLRC4):c.2802C>T (p.Asn934=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001430344]	likely benign	2	32224746	32224746	Human	2	name
127264053	CV1091294	single nucleotide variant	NM_001199138.2(NLRC4):c.1545C>T (p.His515=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001439526]	likely benign	2	32250319	32250319	Human	2	name
127275487	CV1091295	single nucleotide variant	NM_001199138.2(NLRC4):c.1476G>T (p.Arg492=)	Autoinflammatory syndrome [RCV002264315]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001432383]	likely benign\|uncertain significance	2	32250388	32250388	Human	3	name
127253963	CV1091296	single nucleotide variant	NM_001199138.2(NLRC4):c.1014T>C (p.Pro338=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001426205]	likely benign	2	32250850	32250850	Human	2	name
127295509	CV1112792	single nucleotide variant	NM_001199138.2(NLRC4):c.2835G>A (p.Ala945=)	Autoinflammatory syndrome [RCV002264335]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001459754]	likely benign\|uncertain significance	2	32224713	32224713	Human	3	name
127294932	CV1112793	single nucleotide variant	NM_001199138.2(NLRC4):c.2649A>G (p.Ala883=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001459600]	likely benign	2	32235534	32235534	Human	2	name
127297441	CV1112794	single nucleotide variant	NM_001199138.2(NLRC4):c.2592A>G (p.Gly864=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001453056]	likely benign	2	32236269	32236269	Human	2	name
127327526	CV1112795	single nucleotide variant	NM_001199138.2(NLRC4):c.1665A>G (p.Val555=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001469116]	likely benign	2	32250199	32250199	Human	2	name
127298528	CV1112796	single nucleotide variant	NM_001199138.2(NLRC4):c.1467C>T (p.Ser489=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001460580]	likely benign	2	32250397	32250397	Human	2	name
127332138	CV1112797	single nucleotide variant	NM_001199138.2(NLRC4):c.1323C>T (p.Phe441=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001472051]\|not provided [RCV004711668]	likely benign	2	32250541	32250541	Human	2	name
127305937	CV1112798	single nucleotide variant	NM_001199138.2(NLRC4):c.1164G>C (p.Arg388=)	Autoinflammatory syndrome [RCV002264333]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001455360]	likely benign\|uncertain significance	2	32250700	32250700	Human	3	name
127333819	CV1133704	single nucleotide variant	NM_001199138.2(NLRC4):c.2721A>G (p.Pro907=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001490398]	likely benign	2	32235462	32235462	Human	2	name
127313952	CV1133709	single nucleotide variant	NM_001199138.2(NLRC4):c.199A>C (p.Asn67His)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001502331]	likely benign	2	32252482	32252482	Human	2	name
127298263	CV1154138	single nucleotide variant	NM_001199138.2(NLRC4):c.2631G>C (p.Val877=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001513192]	benign	2	32235552	32235552	Human	2	name
150337123	CV1165621	single nucleotide variant	NM_001199138.2(NLRC4):c.2001G>A (p.Arg667=)	not provided [RCV001532395]	likely benign	2	32249863	32249863	Human		name
150492767	CV1268305	insertion	NM_001199138.2(NLRC4):c.2522-86_2522-85insG	not provided [RCV001688037]\|not specified [RCV003401619]	benign	2	32236424	32236425	Human		name
151352946	CV1326357	single nucleotide variant	NM_001199138.2(NLRC4):c.1017C>G (p.Leu339=)	not provided [RCV001815881]	likely benign	2	32250847	32250847	Human		name
151836150	CV1347187	single nucleotide variant	NM_001199138.2(NLRC4):c.106G>A (p.Glu36Lys)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002031309]	uncertain significance	2	32252575	32252575	Human	2	name
151810361	CV1363131	single nucleotide variant	NM_001199138.2(NLRC4):c.176T>G (p.Leu59Trp)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001991769]	uncertain significance	2	32252505	32252505	Human	2	name
151820973	CV1416266	single nucleotide variant	NM_001199138.2(NLRC4):c.222G>C (p.Lys74Asn)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001919568]	uncertain significance	2	32252459	32252459	Human	2	name
151778362	CV1463307	single nucleotide variant	NM_001199138.2(NLRC4):c.139G>A (p.Glu47Lys)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001875124]	uncertain significance	2	32252542	32252542	Human	2	name
151890741	CV1473074	single nucleotide variant	NM_001199138.2(NLRC4):c.271C>T (p.His91Tyr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001888493]	uncertain significance	2	32251593	32251593	Human	2	name
151783063	CV1474056	single nucleotide variant	NM_001199138.2(NLRC4):c.296A>G (p.Asp99Gly)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001875544]	uncertain significance	2	32251568	32251568	Human	2	name
151848182	CV1502597	single nucleotide variant	NM_001199138.2(NLRC4):c.280T>C (p.Ser94Pro)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001882245]	uncertain significance	2	32251584	32251584	Human	2	name
151840442	CV1508214	single nucleotide variant	NM_001199138.2(NLRC4):c.136G>C (p.Val46Leu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001956682]	uncertain significance	2	32252545	32252545	Human	2	name
151723325	CV1511908	single nucleotide variant	NM_001199138.2(NLRC4):c.2100G>A (p.Val700=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002003964]	likely benign\|uncertain significance	2	32249764	32249764	Human	2	name
152126906	CV1530205	single nucleotide variant	NM_001199138.2(NLRC4):c.1830C>T (p.Asp610=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002198798]	likely benign	2	32250034	32250034	Human	2	name
152067281	CV1534625	single nucleotide variant	NM_001199138.2(NLRC4):c.1902C>T (p.Ile634=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002110957]	likely benign	2	32249962	32249962	Human	2	name
152168306	CV1547957	single nucleotide variant	NM_001199138.2(NLRC4):c.2904G>C (p.Val968=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002161086]	likely benign	2	32224644	32224644	Human	2	name
152082010	CV1548369	single nucleotide variant	NM_001199138.2(NLRC4):c.2091T>C (p.Cys697=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002076495]	likely benign	2	32249773	32249773	Human	2	name
152168354	CV1558645	single nucleotide variant	NM_001199138.2(NLRC4):c.1317T>C (p.Tyr439=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002142413]	likely benign	2	32250547	32250547	Human	2	name
152138070	CV1563476	single nucleotide variant	NM_001199138.2(NLRC4):c.1254G>A (p.Glu418=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002200214]	likely benign	2	32250610	32250610	Human	2	name
152119503	CV1576033	single nucleotide variant	NM_001199138.2(NLRC4):c.1272T>C (p.Thr424=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002197855]	likely benign	2	32250592	32250592	Human	2	name
152084550	CV1577069	single nucleotide variant	NM_001199138.2(NLRC4):c.2970G>A (p.Val990=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002193459]	likely benign	2	32224578	32224578	Human	2	name
152045103	CV1588723	single nucleotide variant	NM_001199138.2(NLRC4):c.1929C>T (p.Tyr643=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002188743]	likely benign	2	32249935	32249935	Human	2	name
152092546	CV1593155	single nucleotide variant	NM_001199138.2(NLRC4):c.1044G>A (p.Gln348=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002094389]	likely benign	2	32250820	32250820	Human	2	name
152161548	CV1606177	single nucleotide variant	NM_001199138.2(NLRC4):c.1443G>A (p.Ser481=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002181021]	likely benign	2	32250421	32250421	Human	2	name
152052113	CV1607187	single nucleotide variant	NM_001199138.2(NLRC4):c.2607T>C (p.His869=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002109103]	likely benign	2	32236254	32236254	Human	2	name
152033524	CV1610384	single nucleotide variant	NM_001199138.2(NLRC4):c.1740A>G (p.Gln580=)	NLRC4-related disorder [RCV003895821]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002124948]	benign\|likely benign	2	32250124	32250124	Human	2	name , trait , alternate_id
152072919	CV1615302	single nucleotide variant	NM_001199138.2(NLRC4):c.1290T>C (p.Tyr430=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002091836]	likely benign	2	32250574	32250574	Human	2	name
152042982	CV1624329	single nucleotide variant	NM_001199138.2(NLRC4):c.1776C>A (p.Pro592=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002126327]	likely benign	2	32250088	32250088	Human	2	name
152074580	CV1638247	single nucleotide variant	NM_001199138.2(NLRC4):c.2232T>C (p.His744=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002192242]	likely benign	2	32249632	32249632	Human	2	name
152095306	CV1661640	single nucleotide variant	NM_001199138.2(NLRC4):c.2739G>A (p.Gly913=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002172369]	likely benign	2	32235444	32235444	Human	2	name
152124700	CV1665709	single nucleotide variant	NM_001199138.2(NLRC4):c.1878G>A (p.Lys626=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002198522]	likely benign	2	32249986	32249986	Human	2	name
153304126	CV1686799	single nucleotide variant	NM_001199138.2(NLRC4):c.1569C>A (p.Ile523=)	Autoinflammatory syndrome [RCV002262086]	uncertain significance	2	32250295	32250295	Human	1	name
153304133	CV1686804	single nucleotide variant	NM_001199138.2(NLRC4):c.2196C>A (p.Ile732=)	Autoinflammatory syndrome [RCV002262091]	uncertain significance	2	32249668	32249668	Human	1	name
153304144	CV1686812	single nucleotide variant	NM_001199138.2(NLRC4):c.2916T>C (p.Phe972=)	Autoinflammatory syndrome [RCV002262099]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003101480]	likely benign	2	32224632	32224632	Human	3	name
156410777	CV1882749	single nucleotide variant	NM_001199138.2(NLRC4):c.241T>C (p.Phe81Leu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003072205]	uncertain significance	2	32252440	32252440	Human	2	name
156075034	CV1904152	single nucleotide variant	NM_001199138.2(NLRC4):c.1461T>C (p.Tyr487=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002591390]	likely benign	2	32250403	32250403	Human	2	name
156185698	CV1919151	single nucleotide variant	NM_001199138.2(NLRC4):c.1527C>T (p.Leu509=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002595209]	likely benign	2	32250337	32250337	Human	2	name
155943099	CV1920841	single nucleotide variant	NM_001199138.2(NLRC4):c.2217A>G (p.Lys739=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002615768]	likely benign	2	32249647	32249647	Human	2	name
156103842	CV1956741	single nucleotide variant	NM_001199138.2(NLRC4):c.2700G>A (p.Leu900=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002570946]	likely benign	2	32235483	32235483	Human	2	name
156072094	CV1968821	single nucleotide variant	NM_001199138.2(NLRC4):c.2616C>T (p.Ile872=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002621274]	likely benign	2	32235567	32235567	Human	2	name
156196998	CV1971177	single nucleotide variant	NM_001199138.2(NLRC4):c.2548C>T (p.Leu850=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002625599]	likely benign	2	32236313	32236313	Human	2	name
156262817	CV1993719	single nucleotide variant	NM_001199138.2(NLRC4):c.2284T>C (p.Leu762=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002646273]	likely benign	2	32241099	32241099	Human	2	name
156347125	CV1995325	single nucleotide variant	NM_001199138.2(NLRC4):c.2085G>A (p.Lys695=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002650629]	likely benign	2	32249779	32249779	Human	2	name
156107306	CV2002081	single nucleotide variant	NM_001199138.2(NLRC4):c.2139C>T (p.Asn713=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002639803]	likely benign	2	32249725	32249725	Human	2	name
156391956	CV2005731	single nucleotide variant	NM_001199138.2(NLRC4):c.2715G>A (p.Glu905=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002680854]	likely benign	2	32235468	32235468	Human	2	name
156305787	CV2013723	single nucleotide variant	NM_001199138.2(NLRC4):c.1599T>C (p.Ser533=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002716271]	likely benign	2	32250265	32250265	Human	2	name
156118819	CV2015829	single nucleotide variant	NM_001199138.2(NLRC4):c.297C>A (p.Asp99Glu)	Inborn genetic diseases [RCV003269250]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002695955]	uncertain significance	2	32251567	32251567	Human	3	name
156011615	CV2041929	single nucleotide variant	NM_001199138.2(NLRC4):c.1023G>C (p.Val341=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002780175]	likely benign	2	32250841	32250841	Human	2	name
156005782	CV2041930	single nucleotide variant	NM_001199138.2(NLRC4):c.1020T>C (p.Phe340=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002756423]	likely benign	2	32250844	32250844	Human	2	name
155949432	CV2058623	single nucleotide variant	NM_001199138.2(NLRC4):c.2124C>T (p.Leu708=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002816180]	likely benign	2	32249740	32249740	Human	2	name
155970836	CV2062458	single nucleotide variant	NM_001199138.2(NLRC4):c.1776C>G (p.Pro592=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002842069]	likely benign	2	32250088	32250088	Human	2	name
156012197	CV2076127	single nucleotide variant	NM_001199138.2(NLRC4):c.2865T>G (p.Leu955=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002866165]	likely benign	2	32224683	32224683	Human	2	name
156225815	CV2088725	single nucleotide variant	NM_001199138.2(NLRC4):c.1809C>T (p.Pro603=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002876046]	likely benign	2	32250055	32250055	Human	2	name
156324743	CV2108463	single nucleotide variant	NM_001199138.2(NLRC4):c.1509G>A (p.Arg503=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002938005]	likely benign	2	32250355	32250355	Human	2	name
156016794	CV2120598	single nucleotide variant	NM_001199138.2(NLRC4):c.2478A>G (p.Gln826=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002975946]	likely benign	2	32238175	32238175	Human	2	name
156155328	CV2150764	deletion	NM_001199138.2(NLRC4):c.541del (p.Arg181fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003022997]	uncertain significance	2	32251323	32251323	Human	2	name
156082568	CV2158731	single nucleotide variant	NM_001199138.2(NLRC4):c.2388T>C (p.Phe796=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003037934]	likely benign	2	32238265	32238265	Human	2	name
156377743	CV2189206	single nucleotide variant	NM_001199138.2(NLRC4):c.2691C>T (p.Ser897=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003050250]	likely benign	2	32235492	32235492	Human	2	name
156402803	CV2189547	single nucleotide variant	NM_001199138.2(NLRC4):c.2202T>A (p.Ser734=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003052470]	likely benign	2	32249662	32249662	Human	2	name
243062619	CV2405072	single nucleotide variant	NM_001199138.2(NLRC4):c.1554T>C (p.Leu518=)	Familial cold autoinflammatory syndrome 4 [RCV003140622]	uncertain significance	2	32250310	32250310	Human	1	name
329352396	CV2476789	single nucleotide variant	NM_001199138.2(NLRC4):c.1035T>C (p.Cys345=)	not provided [RCV003223021]	likely benign	2	32250829	32250829	Human		name
405869343	CV2831806	deletion	NM_001199138.2(NLRC4):c.390del (p.Ser132fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV004560171]	likely pathogenic	2	32251474	32251474	Human	1	name
405007774	CV3083131	single nucleotide variant	NM_001199138.2(NLRC4):c.2886G>A (p.Glu962=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003784078]	likely benign	2	32224662	32224662	Human	2	name
404985865	CV3083560	single nucleotide variant	NM_001199138.2(NLRC4):c.1245C>T (p.Ser415=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003781910]	likely benign	2	32250619	32250619	Human	2	name
405000860	CV3086059	single nucleotide variant	NM_001199138.2(NLRC4):c.2313T>C (p.Asp771=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003783431]	likely benign	2	32241070	32241070	Human	2	name
402520318	CV3086258	single nucleotide variant	NM_001199138.2(NLRC4):c.1170G>A (p.Leu390=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003781031]	likely benign	2	32250694	32250694	Human	2	name
405019339	CV3087883	single nucleotide variant	NM_001199138.2(NLRC4):c.128G>A (p.Cys43Tyr)	Inborn genetic diseases [RCV004953535]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003795443]	uncertain significance	2	32252553	32252553	Human	3	name
404995607	CV3088441	single nucleotide variant	NM_001199138.2(NLRC4):c.2688G>A (p.Leu896=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003793218]	likely benign	2	32235495	32235495	Human	2	name
402518951	CV3091821	single nucleotide variant	NM_001199138.2(NLRC4):c.2772T>C (p.Ile924=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003790267]	likely benign	2	32235411	32235411	Human	2	name
405029737	CV3098269	single nucleotide variant	NM_001199138.2(NLRC4):c.2496G>A (p.Leu832=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003806562]	likely benign	2	32238157	32238157	Human	2	name
405034200	CV3098797	single nucleotide variant	NM_001199138.2(NLRC4):c.1098C>T (p.Phe366=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003806923]	likely benign	2	32250766	32250766	Human	2	name
404979852	CV3099490	single nucleotide variant	NM_001199138.2(NLRC4):c.1536G>C (p.Val512=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003791318]	likely benign	2	32250328	32250328	Human	2	name
405078795	CV3100499	single nucleotide variant	NM_001199138.2(NLRC4):c.2064A>G (p.Thr688=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003800052]	likely benign	2	32249800	32249800	Human	2	name
405020061	CV3100991	single nucleotide variant	NM_001199138.2(NLRC4):c.1149A>C (p.Ala383=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003805739]	likely benign	2	32250715	32250715	Human	2	name
405045172	CV3103900	single nucleotide variant	NM_001199138.2(NLRC4):c.2658G>A (p.Leu886=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797618]	likely benign	2	32235525	32235525	Human	2	name
405169575	CV3104242	single nucleotide variant	NM_001199138.2(NLRC4):c.1608T>C (p.Ser536=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003802919]	likely benign	2	32250256	32250256	Human	2	name
405015409	CV3106895	single nucleotide variant	NM_001199138.2(NLRC4):c.1512T>C (p.Ala504=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003795065]	likely benign	2	32250352	32250352	Human	2	name
405015924	CV3106971	single nucleotide variant	NM_001199138.2(NLRC4):c.2616C>A (p.Ile872=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003795141]	uncertain significance	2	32235567	32235567	Human	2	name
405086287	CV3107935	single nucleotide variant	NM_001199138.2(NLRC4):c.292T>G (p.Leu98Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003800633]	uncertain significance	2	32251572	32251572	Human	2	name
405068436	CV3111016	single nucleotide variant	NM_001199138.2(NLRC4):c.2043G>A (p.Gly681=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003809520]	likely benign	2	32249821	32249821	Human	2	name
405105673	CV3113278	single nucleotide variant	NM_001199138.2(NLRC4):c.1944T>C (p.Ala648=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003812569]	likely benign	2	32249920	32249920	Human	2	name
405124204	CV3113445	single nucleotide variant	NM_001199138.2(NLRC4):c.1155C>T (p.Asp385=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003815201]	likely benign	2	32250709	32250709	Human	2	name
405268052	CV3186963	single nucleotide variant	NM_001199138.2(NLRC4):c.2457C>G (p.Pro819=)	not provided [RCV003887046]	likely benign	2	32238196	32238196	Human		name
407509016	CV3458715	single nucleotide variant	NM_001199138.2(NLRC4):c.148G>T (p.Ala50Ser)	Inborn genetic diseases [RCV004647301]	uncertain significance	2	32252533	32252533	Human	1	name
407509018	CV3458716	single nucleotide variant	NM_001199138.2(NLRC4):c.113T>G (p.Val38Gly)	Inborn genetic diseases [RCV004647302]	uncertain significance	2	32252568	32252568	Human	1	name
596945483	CV3547930	single nucleotide variant	NM_001199138.2(NLRC4):c.1533A>C (p.Ala511=)	not provided [RCV004809261]	likely benign	2	32250331	32250331	Human		name
597835347	CV3864464	single nucleotide variant	NM_001199138.2(NLRC4):c.2568A>G (p.Ser856=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005210100]	likely benign	2	32236293	32236293	Human	2	name
597840853	CV3864566	single nucleotide variant	NM_001199138.2(NLRC4):c.1320A>G (p.Lys440=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005211177]	likely benign	2	32250544	32250544	Human	2	name
597840867	CV3864569	single nucleotide variant	NM_001199138.2(NLRC4):c.134A>T (p.Lys45Met)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005211180]	uncertain significance	2	32252547	32252547	Human	2	name
597885870	CV3866533	single nucleotide variant	NM_001199138.2(NLRC4):c.151G>A (p.Ala51Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005218009]	uncertain significance	2	32252530	32252530	Human	2	name
597890273	CV3867548	single nucleotide variant	NM_001199138.2(NLRC4):c.2205A>T (p.Val735=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005218739]	likely benign	2	32249659	32249659	Human	2	name
597840220	CV3867850	single nucleotide variant	NM_001199138.2(NLRC4):c.1104T>C (p.Asp368=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005211046]	likely benign	2	32250760	32250760	Human	2	name
597840427	CV3867889	single nucleotide variant	NM_001199138.2(NLRC4):c.235C>T (p.Pro79Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005211085]	uncertain significance	2	32252446	32252446	Human	2	name
597891887	CV3867964	single nucleotide variant	NM_001199138.2(NLRC4):c.1596A>G (p.Glu532=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005218992]	likely benign	2	32250268	32250268	Human	2	name
597865571	CV3868806	single nucleotide variant	NM_001199138.2(NLRC4):c.2673C>T (p.Asp891=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005214926]	benign	2	32235510	32235510	Human	2	name
597907632	CV3870355	single nucleotide variant	NM_001199138.2(NLRC4):c.1179T>C (p.Cys393=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005221406]	likely benign	2	32250685	32250685	Human	2	name
597927305	CV3874108	single nucleotide variant	NM_001199138.2(NLRC4):c.1260C>T (p.Val420=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005224380]	likely benign	2	32250604	32250604	Human	2	name
597901275	CV3876625	single nucleotide variant	NM_001199138.2(NLRC4):c.1206C>T (p.Phe402=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005220323]	likely benign	2	32250658	32250658	Human	2	name
597844663	CV3878811	single nucleotide variant	NM_001199138.2(NLRC4):c.2856T>C (p.Asp952=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005227141]	likely benign	2	32224692	32224692	Human	2	name
598128354	CV3887558	single nucleotide variant	NM_001199138.2(NLRC4):c.122T>C (p.Ile41Thr)	not provided [RCV005243731]	uncertain significance	2	32252559	32252559	Human		name
12896406	CV389512	single nucleotide variant	NM_001199138.2(NLRC4):c.1824C>T (p.Ala608=)	Familial cold autoinflammatory syndrome 4 [RCV001782914]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001511110]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001782913]\|not provided [RCV001675900]\|not specified [RCV000455300]	benign	2	32250040	32250040	Human	2	name
12895912	CV389522	single nucleotide variant	NM_001199138.2(NLRC4):c.2740T>C (p.Leu914=)	Autoinflammatory syndrome [RCV002263692]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000531949]\|not provided [RCV001727728]\|not specified [RCV000454626]	benign\|likely benign	2	32235443	32235443	Human	3	name
598239339	CV3994722	single nucleotide variant	NM_001199138.2(NLRC4):c.143A>T (p.Gln48Leu)	Inborn genetic diseases [RCV005382906]	uncertain significance	2	32252538	32252538	Human	1	name
13487599	CV451002	single nucleotide variant	NM_001199138.2(NLRC4):c.1542A>G (p.Gln514=)	Autoinflammatory syndrome [RCV002263804]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000531894]\|not provided [RCV004708951]	benign	2	32250322	32250322	Human	3	name
13624597	CV518201	single nucleotide variant	NM_001199138.2(NLRC4):c.2727C>T (p.Leu909=)	Autoinflammatory syndrome [RCV002263916]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652414]\|not provided [RCV002510948]	benign\|likely benign	2	32235456	32235456	Human	3	name
13624619	CV518205	single nucleotide variant	NM_001199138.2(NLRC4):c.2256G>A (p.Pro752=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652419]\|not provided [RCV004711280]	likely benign	2	32249608	32249608	Human	2	name
13624617	CV518209	single nucleotide variant	NM_001199138.2(NLRC4):c.2247A>G (p.Gln749=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001427396]	likely benign	2	32249617	32249617	Human	2	name
13624618	CV518323	single nucleotide variant	NM_001199138.2(NLRC4):c.1683A>G (p.Leu561=)	Autoinflammatory syndrome [RCV002263919]\|NLRC4-related disorder [RCV003945671]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652418]\|not provided [RCV003424249]	benign\|likely benign	2	32250181	32250181	Human	3	name , trait , alternate_id
13624621	CV518327	single nucleotide variant	NM_001199138.2(NLRC4):c.1248G>A (p.Val416=)	Autoinflammatory syndrome [RCV002263920]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652421]\|not provided [RCV001311916]	benign\|likely benign	2	32250616	32250616	Human	3	name
13811950	CV558089	single nucleotide variant	NM_001199138.2(NLRC4):c.104G>A (p.Arg35His)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000703380]\|not specified [RCV003323694]	uncertain significance	2	32252577	32252577	Human	2	name
14738560	CV629990	single nucleotide variant	NM_001199138.2(NLRC4):c.287G>T (p.Gly96Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000804554]	uncertain significance	2	32251577	32251577	Human	2	name
14738667	CV629991	single nucleotide variant	NM_001199138.2(NLRC4):c.281C>T (p.Ser94Leu)	Autoinflammatory syndrome [RCV002264022]\|Inborn genetic diseases [RCV002537487]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000821025]	uncertain significance	2	32251583	32251583	Human	4	name
14737885	CV629992	single nucleotide variant	NM_001199138.2(NLRC4):c.103C>T (p.Arg35Cys)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000820690]	uncertain significance	2	32252578	32252578	Human	2	name
15107848	CV719852	single nucleotide variant	NM_001199138.2(NLRC4):c.2847G>A (p.Val949=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000893562]	likely benign	2	32224701	32224701	Human	2	name
15113571	CV719853	single nucleotide variant	NM_001199138.2(NLRC4):c.1083G>A (p.Thr361=)	Autoinflammatory syndrome [RCV002264062]\|NLRC4-related disorder [RCV003920823]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000894690]	benign\|likely benign	2	32250781	32250781	Human	3	name , trait , alternate_id
15141312	CV733451	single nucleotide variant	NM_001199138.2(NLRC4):c.2844T>C (p.Arg948=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000899473]	likely benign	2	32224704	32224704	Human	2	name
15183003	CV733453	single nucleotide variant	NM_001199138.2(NLRC4):c.1380G>A (p.Thr460=)	Autoinflammatory syndrome [RCV002264079]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000907961]	benign\|likely benign	2	32250484	32250484	Human	3	name
15103099	CV747601	single nucleotide variant	NM_001199138.2(NLRC4):c.2883T>C (p.Phe961=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001457338]\|not provided [RCV004711403]\|not specified [RCV005408074]	benign\|likely benign	2	32224665	32224665	Human	2	name
15194604	CV747602	single nucleotide variant	NM_001199138.2(NLRC4):c.2646C>T (p.Thr882=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002065804]\|not provided [RCV003411888]	likely benign	2	32235537	32235537	Human	2	name
15158215	CV747603	single nucleotide variant	NM_001199138.2(NLRC4):c.2631G>A (p.Val877=)	Autoinflammatory syndrome [RCV002264097]\|NLRC4-related disorder [RCV003895625]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002066014]	likely benign\|uncertain significance	2	32235552	32235552	Human	3	name , trait , alternate_id
15201044	CV747605	single nucleotide variant	NM_001199138.2(NLRC4):c.2628C>T (p.Asn876=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000913022]\|not provided [RCV001091367]	benign\|likely benign	2	32235555	32235555	Human	2	name
15129494	CV747606	single nucleotide variant	NM_001199138.2(NLRC4):c.2487C>T (p.Ser829=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001438140]\|not provided [RCV005427370]	likely benign	2	32238166	32238166	Human	2	name
15122767	CV763201	single nucleotide variant	NM_001199138.2(NLRC4):c.1311A>G (p.Pro437=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002545927]	likely benign	2	32250553	32250553	Human	2	name
15195615	CV763202	single nucleotide variant	NM_001199138.2(NLRC4):c.1224C>T (p.Phe408=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000933986]	likely benign	2	32250640	32250640	Human	2	name
15198148	CV763203	single nucleotide variant	NM_001199138.2(NLRC4):c.1080A>G (p.Thr360=)	Autoinflammatory syndrome [RCV002264103]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000934720]	likely benign\|uncertain significance	2	32250784	32250784	Human	3	name
15142351	CV781315	single nucleotide variant	NM_001199138.2(NLRC4):c.2589T>C (p.Asp863=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001491073]	likely benign	2	32236272	32236272	Human	2	name
15136238	CV781316	single nucleotide variant	NM_001199138.2(NLRC4):c.2370G>C (p.Leu790=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000982074]	likely benign	2	32238283	32238283	Human	2	name
15113183	CV781317	single nucleotide variant	NM_001199138.2(NLRC4):c.2277G>A (p.Leu759=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001493155]	likely benign	2	32241106	32241106	Human	2	name
15113801	CV781318	single nucleotide variant	NM_001199138.2(NLRC4):c.1569C>T (p.Ile523=)	Autoinflammatory syndrome [RCV002264125]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001482908]\|not provided [RCV003883519]	likely benign\|uncertain significance	2	32250295	32250295	Human	3	name
21066946	CV795230	single nucleotide variant	NM_001199138.2(NLRC4):c.1242C>T (p.Ser414=)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002067622]\|not provided [RCV000997113]	likely benign	2	32250622	32250622	Human	2	name
26885257	CV826460	single nucleotide variant	NM_001199138.2(NLRC4):c.286G>C (p.Gly96Arg)	NLRC4-related disorder [RCV003396709]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001065350]	uncertain significance	2	32251578	32251578	Human	2	name , trait , alternate_id
26902811	CV826461	single nucleotide variant	NM_001199138.2(NLRC4):c.236C>T (p.Pro79Leu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001072000]	uncertain significance	2	32252445	32252445	Human	2	name
26922115	CV826462	single nucleotide variant	NM_001199138.2(NLRC4):c.124T>C (p.Cys42Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001061606]	uncertain significance	2	32252557	32252557	Human	2	name
26906882	CV826463	single nucleotide variant	NM_001199138.2(NLRC4):c.112G>A (p.Val38Ile)	Inborn genetic diseases [RCV004649432]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001051964]	uncertain significance	2	32252569	32252569	Human	3	name
38477566	CV922762	single nucleotide variant	NM_001199138.2(NLRC4):c.272A>G (p.His91Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001216201]	uncertain significance	2	32251592	32251592	Human	2	name
38479163	CV922763	single nucleotide variant	NM_001199138.2(NLRC4):c.185G>A (p.Gly62Asp)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001216947]	uncertain significance	2	32252496	32252496	Human	2	name
126737478	CV1000340	single nucleotide variant	NM_001199138.2(NLRC4):c.312T>G (p.Asp104Glu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002543583]\|not provided [RCV001311918]	uncertain significance	2	32251552	32251552	Human	2	name
126755307	CV1004026	deletion	NM_001199138.2(NLRC4):c.1488del (p.Ser497fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001316911]	uncertain significance	2	32250376	32250376	Human	2	name
126741679	CV1004029	single nucleotide variant	NM_001199138.2(NLRC4):c.627G>C (p.Gln209His)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001325376]	uncertain significance	2	32251237	32251237	Human	2	name
126757695	CV1004030	single nucleotide variant	NM_001199138.2(NLRC4):c.443G>A (p.Arg148His)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001317565]	uncertain significance	2	32251421	32251421	Human	2	name
126767504	CV1004031	single nucleotide variant	NM_001199138.2(NLRC4):c.419G>A (p.Trp140Ter)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001320876]	uncertain significance	2	32251445	32251445	Human	2	name
126732809	CV1019643	single nucleotide variant	NM_001199138.2(NLRC4):c.3075A>G (p.Ter1025=)	Autoinflammation with infantile enterocolitis [RCV001334128]	pathogenic	2	32224473	32224473	Human		name
126765754	CV1024496	single nucleotide variant	NM_001199138.2(NLRC4):c.652G>A (p.Asp218Asn)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001342154]	uncertain significance	2	32251212	32251212	Human	2	name
126768545	CV1024497	single nucleotide variant	NM_001199138.2(NLRC4):c.445G>A (p.Val149Met)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001343419]	uncertain significance	2	32251419	32251419	Human	2	name
126728763	CV1024498	single nucleotide variant	NM_001199138.2(NLRC4):c.443G>T (p.Arg148Leu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001348988]	uncertain significance	2	32251421	32251421	Human	2	name
126915854	CV1041456	deletion	NM_001199138.2(NLRC4):c.1877del (p.Lys626fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001371161]	uncertain significance	2	32249987	32249987	Human	2	name
126915253	CV1041459	single nucleotide variant	NM_001199138.2(NLRC4):c.781A>T (p.Ile261Phe)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001370803]	uncertain significance	2	32251083	32251083	Human	2	name
126920454	CV1041462	single nucleotide variant	NM_001199138.2(NLRC4):c.541C>T (p.Arg181Ter)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001362886]	uncertain significance	2	32251323	32251323	Human	2	name
126922431	CV1041463	single nucleotide variant	NM_001199138.2(NLRC4):c.436C>T (p.His146Tyr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001364667]	uncertain significance	2	32251428	32251428	Human	2	name
8648659	CV108820	single nucleotide variant	NM_001199138.2(NLRC4):c.928C>T (p.Arg310Ter)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652408]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV004783744]\|not provided [RCV000089345]\|not specified [RCV003330434]	conflicting interpretations of pathogenicity\|uncertain significance\|not provided	2	32250936	32250936	Human	2	name
127260373	CV1091297	single nucleotide variant	NM_001199138.2(NLRC4):c.822G>C (p.Met274Ile)	Inborn genetic diseases [RCV004038249]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001427813]	likely benign\|uncertain significance	2	32251042	32251042	Human	3	name
127314676	CV1112803	single nucleotide variant	NM_001199138.2(NLRC4):c.298G>A (p.Asp100Asn)	Inborn genetic diseases [RCV004038563]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001457772]	likely benign\|uncertain significance	2	32251566	32251566	Human	3	name
150337125	CV1165622	single nucleotide variant	NM_001199138.2(NLRC4):c.772T>C (p.Cys258Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001873776]\|not provided [RCV001532396]	uncertain significance	2	32251092	32251092	Human	2	name
150490937	CV1251109	deletion	NM_001199138.2(NLRC4):c.2615-182_2615-176del	not provided [RCV001674777]	benign	2	32235744	32235750	Human		name
150534189	CV1293243	duplication	NM_001199138.2(NLRC4):c.2793dup (p.Gly932fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001882819]\|not provided [RCV001756463]	uncertain significance	2	32224754	32224755	Human	2	name
152978675	CV1310547	single nucleotide variant	NM_001199138.2(NLRC4):c.931G>A (p.Glu311Lys)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002227543]	uncertain significance	2	32250933	32250933	Human	1	name
151759665	CV1340714	deletion	NM_001199138.2(NLRC4):c.1616del (p.Asn539fs)	Autoinflammatory syndrome [RCV002264424]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001913832]	uncertain significance	2	32250248	32250248	Human	3	name
151792700	CV1341507	single nucleotide variant	NM_001199138.2(NLRC4):c.808C>T (p.Arg270Cys)	Autoinflammatory syndrome [RCV002264401]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001866391]	uncertain significance	2	32251056	32251056	Human	3	name
151815693	CV1344266	single nucleotide variant	NM_001199138.2(NLRC4):c.610C>T (p.Arg204Cys)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001919058]	uncertain significance	2	32251254	32251254	Human	2	name
151761579	CV1349772	single nucleotide variant	NM_001199138.2(NLRC4):c.577G>C (p.Ala193Pro)	Inborn genetic diseases [RCV004651859]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001949206]	uncertain significance	2	32251287	32251287	Human	3	name
151760922	CV1358080	single nucleotide variant	NM_001199138.2(NLRC4):c.704T>C (p.Met235Thr)	Autoinflammatory syndrome [RCV002264427]\|Inborn genetic diseases [RCV003375437]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001928506]	likely benign\|uncertain significance	2	32251160	32251160	Human	4	name
151790564	CV1397275	single nucleotide variant	NM_001199138.2(NLRC4):c.611G>A (p.Arg204His)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001952006]	uncertain significance	2	32251253	32251253	Human	2	name
151768994	CV1411188	single nucleotide variant	NM_001199138.2(NLRC4):c.829G>A (p.Val277Ile)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002045057]	uncertain significance	2	32251035	32251035	Human	2	name
151774684	CV1413475	deletion	NM_001199138.2(NLRC4):c.2713del (p.Glu905fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001971517]	uncertain significance	2	32235470	32235470	Human	2	name
151750344	CV1415591	deletion	NM_001199138.2(NLRC4):c.1751del (p.Leu584fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001927460]	uncertain significance	2	32250113	32250113	Human	2	name
151755441	CV1417748	single nucleotide variant	NM_001199138.2(NLRC4):c.701C>T (p.Ala234Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001894752]\|not provided [RCV004693831]	uncertain significance	2	32251163	32251163	Human	2	name
151742050	CV1425487	single nucleotide variant	NM_001199138.2(NLRC4):c.733T>G (p.Phe245Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001926558]	uncertain significance	2	32251131	32251131	Human	2	name
151882602	CV1443252	single nucleotide variant	NM_001199138.2(NLRC4):c.489C>A (p.Ser163Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002037172]	uncertain significance	2	32251375	32251375	Human	2	name
151835219	CV1451617	single nucleotide variant	NM_001199138.2(NLRC4):c.570G>C (p.Lys190Asn)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001994119]	uncertain significance	2	32251294	32251294	Human	2	name
151876355	CV1458631	single nucleotide variant	NM_001199138.2(NLRC4):c.628G>T (p.Gly210Cys)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001998984]	uncertain significance	2	32251236	32251236	Human	2	name
151752566	CV1479918	single nucleotide variant	NM_001199138.2(NLRC4):c.773G>A (p.Cys258Tyr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001927670]	uncertain significance	2	32251091	32251091	Human	2	name
151710341	CV1502204	single nucleotide variant	NM_001199138.2(NLRC4):c.526T>A (p.Ser176Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001907866]	uncertain significance	2	32251338	32251338	Human	2	name
151743046	CV1507510	single nucleotide variant	NM_001199138.2(NLRC4):c.487A>G (p.Ser163Gly)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001968336]	uncertain significance	2	32251377	32251377	Human	2	name
153304150	CV1686816	single nucleotide variant	NM_001199138.2(NLRC4):c.551T>C (p.Met184Thr)	Autoinflammatory syndrome [RCV002262103]	uncertain significance	2	32251313	32251313	Human	1	name
153304151	CV1686817	single nucleotide variant	NM_001199138.2(NLRC4):c.565G>A (p.Gly189Arg)	Autoinflammatory syndrome [RCV002262104]\|Inborn genetic diseases [RCV005375078]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005225591]	uncertain significance	2	32251299	32251299	Human	4	name
153304156	CV1686820	single nucleotide variant	NM_001199138.2(NLRC4):c.763C>T (p.Pro255Ser)	Autoinflammatory syndrome [RCV002262107]	uncertain significance	2	32251101	32251101	Human	1	name
153304157	CV1686821	single nucleotide variant	NM_001199138.2(NLRC4):c.881C>T (p.Thr294Ile)	Autoinflammatory syndrome [RCV002262108]	uncertain significance	2	32250983	32250983	Human	1	name
156374807	CV1871799	single nucleotide variant	NM_001199138.2(NLRC4):c.833C>T (p.Thr278Ile)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003066618]	uncertain significance	2	32251031	32251031	Human	2	name
156408198	CV1873315	single nucleotide variant	NM_001199138.2(NLRC4):c.679A>G (p.Ile227Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003071168]	uncertain significance	2	32251185	32251185	Human	2	name
156031697	CV1899733	single nucleotide variant	NM_001199138.2(NLRC4):c.324G>C (p.Leu108Phe)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003100678]	uncertain significance	2	32251540	32251540	Human	2	name
156317171	CV1901306	single nucleotide variant	NM_001199138.2(NLRC4):c.920C>T (p.Ala307Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002579015]	uncertain significance	2	32250944	32250944	Human	2	name
156096625	CV1906256	single nucleotide variant	NM_001199138.2(NLRC4):c.740T>C (p.Leu247Pro)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003080434]	uncertain significance	2	32251124	32251124	Human	2	name
156354764	CV1929890	single nucleotide variant	NM_001199138.2(NLRC4):c.862C>T (p.Arg288Trp)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002651184]	uncertain significance	2	32251002	32251002	Human	2	name
156406285	CV1963553	single nucleotide variant	NM_001199138.2(NLRC4):c.307C>T (p.Gln103Ter)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002585855]	likely benign	2	32251557	32251557	Human	2	name
156211608	CV2018894	single nucleotide variant	NM_001199138.2(NLRC4):c.576G>C (p.Lys192Asn)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002700648]	uncertain significance	2	32251288	32251288	Human	2	name
156164564	CV2019638	single nucleotide variant	NM_001199138.2(NLRC4):c.374A>G (p.Asp125Gly)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002710295]	uncertain significance	2	32251490	32251490	Human	2	name
156136829	CV2048137	single nucleotide variant	NM_001199138.2(NLRC4):c.634C>G (p.Leu212Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002800813]	uncertain significance	2	32251230	32251230	Human	2	name
155918122	CV2091901	single nucleotide variant	NM_001199138.2(NLRC4):c.442C>T (p.Arg148Cys)	Inborn genetic diseases [RCV002903207]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002903206]	uncertain significance	2	32251422	32251422	Human	3	name
156344614	CV2120797	single nucleotide variant	NM_001199138.2(NLRC4):c.705G>A (p.Met235Ile)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002939096]	uncertain significance	2	32251159	32251159	Human	2	name
156149398	CV2131142	single nucleotide variant	NM_001199138.2(NLRC4):c.784G>A (p.Glu262Lys)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002982598]	uncertain significance	2	32251080	32251080	Human	2	name
156014548	CV2134014	single nucleotide variant	NM_001199138.2(NLRC4):c.719G>A (p.Arg240Gln)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003017923]	uncertain significance	2	32251145	32251145	Human	2	name
155958876	CV2172942	deletion	NM_001199138.2(NLRC4):c.1893del (p.Gly632fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003032839]	uncertain significance	2	32249971	32249971	Human	2	name
156269850	CV2312052	single nucleotide variant	NM_001199138.2(NLRC4):c.713A>G (p.Lys238Arg)	Inborn genetic diseases [RCV002934266]	uncertain significance	2	32251151	32251151	Human	1	name
243063691	CV2405143	single nucleotide variant	NM_001199138.2(NLRC4):c.805C>T (p.His269Tyr)	Familial cold autoinflammatory syndrome 4 [RCV003225840]	uncertain significance	2	32251059	32251059	Human	1	name
243057340	CV2408315	single nucleotide variant	NM_001199138.2(NLRC4):c.904G>C (p.Glu302Gln)	not provided [RCV003133036]	uncertain significance	2	32250960	32250960	Human		name
329352400	CV2476790	single nucleotide variant	NM_001199138.2(NLRC4):c.542G>A (p.Arg181Gln)	not provided [RCV003223022]	uncertain significance	2	32251322	32251322	Human		name
401774250	CV2702674	single nucleotide variant	NM_001199138.2(NLRC4):c.952G>C (p.Ala318Pro)	Inborn genetic diseases [RCV003262484]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003779989]	uncertain significance	2	32250912	32250912	Human	3	name
401721075	CV2737428	single nucleotide variant	NM_001199138.2(NLRC4):c.839C>T (p.Thr280Ile)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003314367]	uncertain significance	2	32251025	32251025	Human	1	name
401911082	CV2815666	single nucleotide variant	NM_001199138.2(NLRC4):c.995G>C (p.Arg332Thr)	not provided [RCV003425569]	uncertain significance	2	32250869	32250869	Human		name
405050340	CV3084589	single nucleotide variant	NM_001199138.2(NLRC4):c.337T>C (p.Ser113Pro)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797996]	uncertain significance	2	32251527	32251527	Human	2	name
404991931	CV3094306	single nucleotide variant	NM_001199138.2(NLRC4):c.416T>C (p.Leu139Pro)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003782556]	uncertain significance	2	32251448	32251448	Human	2	name
405018087	CV3094357	deletion	NM_001199138.2(NLRC4):c.1798del (p.Glu600fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003785047]	likely benign	2	32250066	32250066	Human	2	name
405018611	CV3094406	single nucleotide variant	NM_001199138.2(NLRC4):c.380T>A (p.Ile127Asn)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003785096]	uncertain significance	2	32251484	32251484	Human	2	name
404985367	CV3096747	single nucleotide variant	NM_001199138.2(NLRC4):c.430C>G (p.Gln144Glu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003792136]	uncertain significance	2	32251434	32251434	Human	2	name
404986050	CV3096830	single nucleotide variant	NM_001199138.2(NLRC4):c.730C>A (p.Leu244Ile)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003792219]	uncertain significance	2	32251134	32251134	Human	2	name
405048478	CV3097483	single nucleotide variant	NM_001199138.2(NLRC4):c.489C>G (p.Ser163Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003808063]	uncertain significance	2	32251375	32251375	Human	2	name
404980507	CV3099600	single nucleotide variant	NM_001199138.2(NLRC4):c.967C>T (p.Leu323Phe)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003791429]	uncertain significance	2	32250897	32250897	Human	2	name
405019626	CV3100946	single nucleotide variant	NM_001199138.2(NLRC4):c.569A>G (p.Lys190Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003805694]	uncertain significance	2	32251295	32251295	Human	2	name
405039060	CV3103252	single nucleotide variant	NM_001199138.2(NLRC4):c.893G>A (p.Gly298Glu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797129]	uncertain significance	2	32250971	32250971	Human	2	name
405090535	CV3105090	single nucleotide variant	NM_001199138.2(NLRC4):c.817A>T (p.Asn273Tyr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003800973]	uncertain significance	2	32251047	32251047	Human	2	name
405035640	CV3108613	single nucleotide variant	NM_001199138.2(NLRC4):c.608T>A (p.Leu203His)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003807071]	uncertain significance	2	32251256	32251256	Human	2	name
405110687	CV3110662	single nucleotide variant	NM_001199138.2(NLRC4):c.515G>A (p.Gly172Asp)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003813565]	uncertain significance	2	32251349	32251349	Human	2	name
405111483	CV3110783	single nucleotide variant	NM_001199138.2(NLRC4):c.944A>T (p.Lys315Met)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003813686]	uncertain significance	2	32250920	32250920	Human	2	name
405109705	CV3112551	single nucleotide variant	NM_001199138.2(NLRC4):c.745G>A (p.Gly249Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003813394]	uncertain significance	2	32251119	32251119	Human	2	name
405105694	CV3113282	single nucleotide variant	NM_001199138.2(NLRC4):c.318G>C (p.Lys106Asn)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003812573]	uncertain significance	2	32251546	32251546	Human	2	name
405106570	CV3113650	single nucleotide variant	NM_001199138.2(NLRC4):c.331A>T (p.Thr111Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003812772]	uncertain significance	2	32251533	32251533	Human	2	name
405707803	CV3358868	single nucleotide variant	NM_001199138.2(NLRC4):c.597C>G (p.Phe199Leu)	Inborn genetic diseases [RCV004493389]	likely benign	2	32251267	32251267	Human	1	name
407509014	CV3458713	single nucleotide variant	NM_001199138.2(NLRC4):c.994A>G (p.Arg332Gly)	Inborn genetic diseases [RCV004647300]	uncertain significance	2	32250870	32250870	Human	1	name
407497627	CV3458714	single nucleotide variant	NM_001199138.2(NLRC4):c.371T>A (p.Ile124Asn)	Inborn genetic diseases [RCV004643796]	uncertain significance	2	32251493	32251493	Human	1	name
408376308	CV3512889	single nucleotide variant	NM_001199138.2(NLRC4):c.845A>G (p.Glu282Gly)	NLRC4-related disorder [RCV004749012]	uncertain significance	2	32251019	32251019	Human		name , trait , alternate_id
597723695	CV3565963	single nucleotide variant	NM_001199138.2(NLRC4):c.868T>A (p.Phe290Ile)	Inborn genetic diseases [RCV004961822]	uncertain significance	2	32250996	32250996	Human	1	name
12741674	CV361176	single nucleotide variant	NM_001199138.2(NLRC4):c.512C>T (p.Ser171Phe)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000414888]	likely pathogenic	2	32251352	32251352	Human	1	name
597841075	CV3864615	deletion	NM_001199138.2(NLRC4):c.1939del (p.Arg647fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005211226]	likely benign	2	32249925	32249925	Human	2	name
597857637	CV3864695	single nucleotide variant	NM_001199138.2(NLRC4):c.905A>C (p.Glu302Ala)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005213751]	uncertain significance	2	32250959	32250959	Human	2	name
597896382	CV3865676	single nucleotide variant	NM_001199138.2(NLRC4):c.762G>T (p.Lys254Asn)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005219654]	uncertain significance	2	32251102	32251102	Human	2	name
597884702	CV3866369	single nucleotide variant	NM_001199138.2(NLRC4):c.488G>A (p.Ser163Asn)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005217845]	uncertain significance	2	32251376	32251376	Human	2	name
597852796	CV3869715	single nucleotide variant	NM_001199138.2(NLRC4):c.658C>G (p.Leu220Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005212999]	uncertain significance	2	32251206	32251206	Human	2	name
597854039	CV3869861	single nucleotide variant	NM_001199138.2(NLRC4):c.548C>A (p.Ala183Asp)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005213146]	uncertain significance	2	32251316	32251316	Human	2	name
597838281	CV3871028	single nucleotide variant	NM_001199138.2(NLRC4):c.703A>G (p.Met235Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005210687]	uncertain significance	2	32251161	32251161	Human	2	name
597902427	CV3873074	single nucleotide variant	NM_001199138.2(NLRC4):c.334C>T (p.Pro112Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005220512]	uncertain significance	2	32251530	32251530	Human	2	name
597886649	CV3876390	single nucleotide variant	NM_001199138.2(NLRC4):c.953C>A (p.Ala318Asp)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005218136]	uncertain significance	2	32250911	32250911	Human	2	name
597901597	CV3876669	single nucleotide variant	NM_001199138.2(NLRC4):c.730C>T (p.Leu244Phe)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005220367]	uncertain significance	2	32251134	32251134	Human	2	name
597902260	CV3876788	single nucleotide variant	NM_001199138.2(NLRC4):c.639T>G (p.Phe213Leu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005220486]	uncertain significance	2	32251225	32251225	Human	2	name
597839401	CV3877504	deletion	NM_001199138.2(NLRC4):c.1015del (p.Leu339fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005226158]	likely benign	2	32250849	32250849	Human	2	name
597928150	CV3878865	single nucleotide variant	NM_001199138.2(NLRC4):c.910A>G (p.Ser304Gly)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005224524]	uncertain significance	2	32250954	32250954	Human	2	name
598239343	CV3994723	single nucleotide variant	NM_001199138.2(NLRC4):c.584C>A (p.Thr195Asn)	Inborn genetic diseases [RCV005382907]	uncertain significance	2	32251280	32251280	Human	1	name
12895648	CV405723	single nucleotide variant	NM_001199138.2(NLRC4):c.620G>A (p.Arg207Lys)	not provided [RCV000487229]	likely pathogenic	2	32251244	32251244	Human		name
13481299	CV443242	single nucleotide variant	NM_001199138.2(NLRC4):c.862C>G (p.Arg288Gly)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001853665]\|not provided [RCV000521468]	uncertain significance	2	32251002	32251002	Human	2	name
13624616	CV518328	single nucleotide variant	NM_001199138.2(NLRC4):c.478G>A (p.Ala160Thr)	Autoinflammatory syndrome [RCV002263918]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652416]\|not provided [RCV001701430]	benign\|likely benign\|conflicting interpretations of pathogenicity	2	32251386	32251386	Human	3	name
13820151	CV558085	single nucleotide variant	NM_001199138.2(NLRC4):c.494G>C (p.Cys165Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000694762]	uncertain significance	2	32251370	32251370	Human	2	name
13804423	CV558087	single nucleotide variant	NM_001199138.2(NLRC4):c.371T>C (p.Ile124Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000699609]	uncertain significance	2	32251493	32251493	Human	2	name
13814681	CV558454	single nucleotide variant	NM_001199138.2(NLRC4):c.845A>C (p.Glu282Ala)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000705199]	uncertain significance	2	32251019	32251019	Human	2	name
13822452	CV561526	single nucleotide variant	NM_001199138.2(NLRC4):c.871G>A (p.Gly291Ser)	Inborn genetic diseases [RCV002533484]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000697341]	uncertain significance	2	32250993	32250993	Human	3	name
14703460	CV629979	duplication	NM_001199138.2(NLRC4):c.2043dup (p.Lys682fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000807387]	uncertain significance	2	32249820	32249821	Human	2	name
14730125	CV629986	single nucleotide variant	NM_001199138.2(NLRC4):c.890T>A (p.Val297Glu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000800820]	uncertain significance	2	32250974	32250974	Human	2	name
14739306	CV629987	single nucleotide variant	NM_001199138.2(NLRC4):c.572G>T (p.Cys191Phe)	Inborn genetic diseases [RCV002534796]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000804885]	uncertain significance	2	32251292	32251292	Human	3	name
14717965	CV629988	single nucleotide variant	NM_001199138.2(NLRC4):c.476A>G (p.Gln159Arg)	Inborn genetic diseases [RCV003166313]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000812067]	uncertain significance	2	32251388	32251388	Human	3	name
14726356	CV629989	single nucleotide variant	NM_001199138.2(NLRC4):c.377T>C (p.Ile126Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000815607]	uncertain significance	2	32251487	32251487	Human	2	name
15182832	CV708245	single nucleotide variant	NM_001199138.2(NLRC4):c.632G>A (p.Gly211Glu)	Autoinflammatory syndrome [RCV002264123]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000974731]	benign\|likely benign	2	32251232	32251232	Human	3	name
15151999	CV719855	single nucleotide variant	NM_001199138.2(NLRC4):c.433C>T (p.His145Tyr)	Inborn genetic diseases [RCV002539287]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000879716]	benign\|uncertain significance	2	32251431	32251431	Human	3	name
21066947	CV795231	single nucleotide variant	NM_001199138.2(NLRC4):c.514G>A (p.Gly172Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001858853]\|not provided [RCV000997114]	likely pathogenic\|uncertain significance	2	32251350	32251350	Human	2	name
26914680	CV826452	single nucleotide variant	NM_001199138.2(NLRC4):c.944A>G (p.Lys315Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001040827]	uncertain significance	2	32250920	32250920	Human	2	name
26922289	CV826453	single nucleotide variant	NM_001199138.2(NLRC4):c.913G>A (p.Ala305Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001061803]	uncertain significance	2	32250951	32250951	Human	2	name
26923565	CV826454	single nucleotide variant	NM_001199138.2(NLRC4):c.655C>T (p.Gln219Ter)	Autoinflammatory syndrome [RCV002264171]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001064228]	uncertain significance	2	32251209	32251209	Human	3	name
26890973	CV826455	single nucleotide variant	NM_001199138.2(NLRC4):c.617G>C (p.Ser206Thr)	Autoinflammatory syndrome [RCV002264155]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001046241]	uncertain significance	2	32251247	32251247	Human	3	name
26885314	CV826456	single nucleotide variant	NM_001199138.2(NLRC4):c.583A>C (p.Thr195Pro)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001043473]	uncertain significance	2	32251281	32251281	Human	2	name
26898652	CV826457	single nucleotide variant	NM_001199138.2(NLRC4):c.545T>C (p.Ile182Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001048963]	uncertain significance	2	32251319	32251319	Human	2	name
26914301	CV826458	single nucleotide variant	NM_001199138.2(NLRC4):c.380T>C (p.Ile127Thr)	Inborn genetic diseases [RCV004960376]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001054882]\|not provided [RCV001311917]	uncertain significance	2	32251484	32251484	Human	3	name
26915688	CV826459	single nucleotide variant	NM_001199138.2(NLRC4):c.358C>G (p.Leu120Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001055870]	uncertain significance	2	32251506	32251506	Human	2	name
38471614	CV931398	single nucleotide variant	NM_001199138.2(NLRC4):c.929G>A (p.Arg310Gln)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001202888]	uncertain significance	2	32250935	32250935	Human	2	name
38482381	CV931399	single nucleotide variant	NM_001199138.2(NLRC4):c.863G>A (p.Arg288Gln)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001207237]	uncertain significance	2	32251001	32251001	Human	2	name
38482980	CV931400	single nucleotide variant	NM_001199138.2(NLRC4):c.718C>T (p.Arg240Trp)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001207476]	uncertain significance	2	32251146	32251146	Human	2	name
38485664	CV931401	single nucleotide variant	NM_001199138.2(NLRC4):c.371T>G (p.Ile124Ser)	Inborn genetic diseases [RCV005372588]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001208575]	uncertain significance	2	32251493	32251493	Human	3	name
38497440	CV942912	single nucleotide variant	NM_001199138.2(NLRC4):c.926T>A (p.Ile309Asn)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001227069]	uncertain significance	2	32250938	32250938	Human	2	name
38497746	CV942913	single nucleotide variant	NM_001199138.2(NLRC4):c.854G>A (p.Arg285Lys)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001227284]	uncertain significance	2	32251010	32251010	Human	2	name
38487514	CV942914	single nucleotide variant	NM_001199138.2(NLRC4):c.809G>A (p.Arg270His)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001237610]	uncertain significance	2	32251055	32251055	Human	2	name
38475226	CV942915	single nucleotide variant	NM_001199138.2(NLRC4):c.734T>A (p.Phe245Tyr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001232532]	uncertain significance	2	32251130	32251130	Human	2	name
126744151	CV988768	single nucleotide variant	NM_001199138.2(NLRC4):c.757T>C (p.Phe253Leu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001296298]	uncertain significance	2	32251107	32251107	Human	2	name
126760607	CV988769	single nucleotide variant	NM_001199138.2(NLRC4):c.598G>A (p.Val200Ile)	NLRC4-related disorder [RCV003405529]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001309366]	uncertain significance	2	32251266	32251266	Human	2	name , trait , alternate_id
126747465	CV1004024	single nucleotide variant	NM_001199138.2(NLRC4):c.2375A>G (p.Lys792Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001326159]	uncertain significance	2	32238278	32238278	Human	2	name
126769284	CV1004025	single nucleotide variant	NM_001199138.2(NLRC4):c.1754A>C (p.Tyr585Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001321863]	uncertain significance	2	32250110	32250110	Human	2	name
126769876	CV1004027	single nucleotide variant	NM_001199138.2(NLRC4):c.1156T>C (p.Phe386Leu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001322229]	uncertain significance	2	32250708	32250708	Human	2	name
126734699	CV1004028	single nucleotide variant	NM_001199138.2(NLRC4):c.1147G>C (p.Ala383Pro)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001313608]	uncertain significance	2	32250717	32250717	Human	2	name
126742033	CV1016060	single nucleotide variant	NM_001199138.2(NLRC4):c.1551C>A (p.Cys517Ter)	Familial cold autoinflammatory syndrome 4 [RCV001329845]	uncertain significance	2	32250313	32250313	Human	1	name
126766765	CV1024491	single nucleotide variant	NM_001199138.2(NLRC4):c.2232T>G (p.His744Gln)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001342555]	uncertain significance	2	32249632	32249632	Human	2	name
126753838	CV1024492	single nucleotide variant	NM_001199138.2(NLRC4):c.1738C>G (p.Gln580Glu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001338680]	uncertain significance	2	32250126	32250126	Human	2	name
126767177	CV1024493	single nucleotide variant	NM_001199138.2(NLRC4):c.1624G>A (p.Glu542Lys)	Autoinflammatory syndrome [RCV002264272]\|Inborn genetic diseases [RCV003346497]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001342715]	uncertain significance	2	32250240	32250240	Human	4	name
126742699	CV1024495	single nucleotide variant	NM_001199138.2(NLRC4):c.1134T>G (p.His378Gln)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001351046]	uncertain significance	2	32250730	32250730	Human	2	name
126918414	CV1041454	single nucleotide variant	NM_001199138.2(NLRC4):c.1934C>T (p.Pro645Leu)	Inborn genetic diseases [RCV003169805]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001361706]	uncertain significance	2	32249930	32249930	Human	3	name
126916825	CV1041455	single nucleotide variant	NM_001199138.2(NLRC4):c.1918C>T (p.Pro640Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001360810]	uncertain significance	2	32249946	32249946	Human	2	name
126918842	CV1041457	single nucleotide variant	NM_001199138.2(NLRC4):c.1778A>G (p.Asp593Gly)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001372894]	uncertain significance	2	32250086	32250086	Human	2	name
126918047	CV1041458	single nucleotide variant	NM_001199138.2(NLRC4):c.1769A>G (p.Asn590Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001372426]	uncertain significance	2	32250095	32250095	Human	2	name
8648648	CV108809	single nucleotide variant	NM_001199138.2(NLRC4):c.1570G>A (p.Ala524Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002514549]\|not provided [RCV000089334]	uncertain significance\|not provided	2	32250294	32250294	Human	2	name
8648649	CV108810	single nucleotide variant	NM_001199138.2(NLRC4):c.1811A>G (p.Asn604Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001058070]\|not provided [RCV000089335]	uncertain significance\|not provided	2	32250053	32250053	Human	2	name
127248722	CV1091293	single nucleotide variant	NM_001199138.2(NLRC4):c.2177T>C (p.Ile726Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001435904]\|not provided [RCV003883641]	likely benign	2	32249687	32249687	Human	2	name
127332127	CV1112791	single nucleotide variant	NM_001199138.2(NLRC4):c.2957A>G (p.Lys986Arg)	Autoinflammatory syndrome [RCV002264339]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001472041]	likely benign\|uncertain significance	2	32224591	32224591	Human	3	name
150529793	CV1289766	single nucleotide variant	NM_001199138.2(NLRC4):c.1016T>C (p.Leu339Pro)	Familial cold autoinflammatory syndrome 4 [RCV001730172]	pathogenic	2	32250848	32250848	Human	1	name
150532178	CV1294375	single nucleotide variant	NM_001199138.2(NLRC4):c.2662T>C (p.Trp888Arg)	NLRC4-related disorder [RCV003900860]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001882842]\|not provided [RCV001751867]	uncertain significance	2	32235521	32235521	Human	2	name , trait , alternate_id
151233174	CV1317733	single nucleotide variant	NM_001199138.2(NLRC4):c.1691A>C (p.Glu564Ala)	not provided [RCV001787499]	uncertain significance	2	32250173	32250173	Human		name
151853039	CV1349182	single nucleotide variant	NM_001199138.2(NLRC4):c.2041G>C (p.Gly681Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001923049]	uncertain significance	2	32249823	32249823	Human	2	name
151751969	CV1357513	single nucleotide variant	NM_001199138.2(NLRC4):c.2533C>T (p.His845Tyr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001894424]	uncertain significance	2	32236328	32236328	Human	2	name
151867061	CV1358782	single nucleotide variant	NM_001199138.2(NLRC4):c.2434G>A (p.Val812Ile)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001939286]	uncertain significance	2	32238219	32238219	Human	2	name
151845497	CV1359742	single nucleotide variant	NM_001199138.2(NLRC4):c.1625A>T (p.Glu542Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002032338]	uncertain significance	2	32250239	32250239	Human	2	name
151880726	CV1360093	single nucleotide variant	NM_001199138.2(NLRC4):c.2071A>G (p.Arg691Gly)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002036836]	uncertain significance	2	32249793	32249793	Human	2	name
151759536	CV1361739	single nucleotide variant	NM_001199138.2(NLRC4):c.2830T>G (p.Leu944Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001928347]	uncertain significance	2	32224718	32224718	Human	2	name
151843615	CV1363320	single nucleotide variant	NM_001199138.2(NLRC4):c.1456A>G (p.Thr486Ala)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002032118]	uncertain significance	2	32250408	32250408	Human	2	name
151820354	CV1363402	single nucleotide variant	NM_001199138.2(NLRC4):c.2089T>G (p.Cys697Gly)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002049730]	uncertain significance	2	32249775	32249775	Human	2	name
151839771	CV1368896	single nucleotide variant	NM_001199138.2(NLRC4):c.1099T>C (p.Tyr367His)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002015189]	uncertain significance	2	32250765	32250765	Human	2	name
151845183	CV1372467	single nucleotide variant	NM_001199138.2(NLRC4):c.2822A>G (p.Gln941Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001995238]	uncertain significance	2	32224726	32224726	Human	2	name
151844379	CV1376004	single nucleotide variant	NM_001199138.2(NLRC4):c.2204T>C (p.Val735Ala)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001995142]	uncertain significance	2	32249660	32249660	Human	2	name
151809210	CV1384145	single nucleotide variant	NM_001199138.2(NLRC4):c.1363C>T (p.Leu455Phe)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001878090]	uncertain significance	2	32250501	32250501	Human	2	name
151725865	CV1387079	single nucleotide variant	NM_001199138.2(NLRC4):c.1579C>A (p.Pro527Thr)	Inborn genetic diseases [RCV004044008]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001910325]	uncertain significance	2	32250285	32250285	Human	3	name
151874895	CV1388240	single nucleotide variant	NM_001199138.2(NLRC4):c.2378T>C (p.Met793Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001981775]	uncertain significance	2	32238275	32238275	Human	2	name
151851652	CV1391966	single nucleotide variant	NM_001199138.2(NLRC4):c.2582A>C (p.Glu861Ala)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002033258]	uncertain significance	2	32236279	32236279	Human	2	name
151789347	CV1399622	single nucleotide variant	NM_001199138.2(NLRC4):c.1478A>G (p.Tyr493Cys)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001916662]	uncertain significance	2	32250386	32250386	Human	2	name
151881139	CV1406089	single nucleotide variant	NM_001199138.2(NLRC4):c.1331A>C (p.Lys444Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001941054]	uncertain significance	2	32250533	32250533	Human	2	name
151718252	CV1419633	single nucleotide variant	NM_001199138.2(NLRC4):c.2927A>G (p.Glu976Gly)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001965559]	uncertain significance	2	32224621	32224621	Human	2	name
151834886	CV1419996	single nucleotide variant	NM_001199138.2(NLRC4):c.1079C>T (p.Thr360Ile)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001977027]	uncertain significance	2	32250785	32250785	Human	2	name
151887501	CV1426902	single nucleotide variant	NM_001199138.2(NLRC4):c.2802C>G (p.Asn934Lys)	Autoinflammatory syndrome [RCV002264446]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002038203]	uncertain significance	2	32224746	32224746	Human	3	name
151804648	CV1429754	single nucleotide variant	NM_001199138.2(NLRC4):c.2938G>C (p.Asp980His)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001974224]	uncertain significance	2	32224610	32224610	Human	2	name
151742799	CV1431673	single nucleotide variant	NM_001199138.2(NLRC4):c.1839A>C (p.Lys613Asn)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001926632]	uncertain significance	2	32250025	32250025	Human	2	name
151871930	CV1437152	single nucleotide variant	NM_001199138.2(NLRC4):c.1972G>C (p.Glu658Gln)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002035783]\|not provided [RCV005256840]	likely benign\|uncertain significance	2	32249892	32249892	Human	2	name
151738208	CV1437364	single nucleotide variant	NM_001199138.2(NLRC4):c.1276C>A (p.Leu426Ile)	Inborn genetic diseases [RCV004641727]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001870747]	uncertain significance	2	32250588	32250588	Human	3	name
151841143	CV1438179	single nucleotide variant	NM_001199138.2(NLRC4):c.2845G>C (p.Val949Leu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001921549]	uncertain significance	2	32224703	32224703	Human	2	name
151715665	CV1445500	single nucleotide variant	NM_001199138.2(NLRC4):c.1183G>T (p.Asp395Tyr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002002881]	uncertain significance	2	32250681	32250681	Human	2	name
151734577	CV1453121	single nucleotide variant	NM_001199138.2(NLRC4):c.1683A>C (p.Leu561Phe)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002041557]	uncertain significance	2	32250181	32250181	Human	2	name
151752499	CV1457454	single nucleotide variant	NM_001199138.2(NLRC4):c.2924A>G (p.Lys975Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001913126]	uncertain significance	2	32224624	32224624	Human	2	name
151870321	CV1466550	single nucleotide variant	NM_001199138.2(NLRC4):c.1175A>G (p.His392Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001925118]	uncertain significance	2	32250689	32250689	Human	2	name
151862171	CV1474180	single nucleotide variant	NM_001199138.2(NLRC4):c.1531G>A (p.Ala511Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001884062]	uncertain significance	2	32250333	32250333	Human	2	name
151749817	CV1487702	single nucleotide variant	NM_001199138.2(NLRC4):c.2665G>A (p.Gly889Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001948026]	uncertain significance	2	32235518	32235518	Human	2	name
151783676	CV1491915	single nucleotide variant	NM_001199138.2(NLRC4):c.2306T>C (p.Ile769Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002026504]	uncertain significance	2	32241077	32241077	Human	2	name
151708920	CV1495247	single nucleotide variant	NM_001199138.2(NLRC4):c.1661T>C (p.Phe554Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002001552]	uncertain significance	2	32250203	32250203	Human	2	name
151836954	CV1501060	single nucleotide variant	NM_001199138.2(NLRC4):c.1535T>C (p.Val512Ala)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001977245]	uncertain significance	2	32250329	32250329	Human	2	name
151834122	CV1504915	single nucleotide variant	NM_001199138.2(NLRC4):c.1574A>G (p.Lys525Arg)	Inborn genetic diseases [RCV004651895]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001976949]	uncertain significance	2	32250290	32250290	Human	3	name
151807572	CV1505428	single nucleotide variant	NM_001199138.2(NLRC4):c.2166T>G (p.Ser722Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002048547]	uncertain significance	2	32249698	32249698	Human	2	name
151727163	CV1511712	single nucleotide variant	NM_001199138.2(NLRC4):c.1891A>G (p.Thr631Ala)	Inborn genetic diseases [RCV004045324]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001983823]	uncertain significance	2	32249973	32249973	Human	3	name
151818865	CV1513864	single nucleotide variant	NM_001199138.2(NLRC4):c.2750G>A (p.Trp917Ter)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001933946]	uncertain significance	2	32235433	32235433	Human	2	name
9480372	CV152952	single nucleotide variant	NM_001199138.2(NLRC4):c.1022T>C (p.Val341Ala)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000144517]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001857479]\|Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) [RCV000132764]\|not pr ... (more) ovided [RCV000434682]	pathogenic	2	32250842	32250842	Human	2	name , trait
152071133	CV1630716	single nucleotide variant	NM_001199138.2(NLRC4):c.1528G>A (p.Ala510Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002129632]\|not provided [RCV004793731]	benign\|uncertain significance	2	32250336	32250336	Human	2	name
9589616	CV166229	single nucleotide variant	NM_001199138.2(NLRC4):c.1009A>T (p.Thr337Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000144518]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001382868]	pathogenic	2	32250855	32250855	Human	2	name
152101902	CV1667159	single nucleotide variant	NM_001199138.2(NLRC4):c.2005T>A (p.Phe669Ile)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005209562]\|not provided [RCV002214145]	uncertain significance	2	32249859	32249859	Human	2	name
153304114	CV1686791	single nucleotide variant	NM_001199138.2(NLRC4):c.1015C>G (p.Leu339Val)	Autoinflammatory syndrome [RCV002262078]	likely pathogenic	2	32250849	32250849	Human	1	name
153304118	CV1686794	single nucleotide variant	NM_001199138.2(NLRC4):c.1225G>A (p.Glu409Lys)	Autoinflammatory syndrome [RCV002262081]	uncertain significance	2	32250639	32250639	Human	1	name
153304120	CV1686795	single nucleotide variant	NM_001199138.2(NLRC4):c.1302G>T (p.Arg434Ser)	Autoinflammatory syndrome [RCV002262082]	uncertain significance	2	32250562	32250562	Human	1	name
153304121	CV1686796	single nucleotide variant	NM_001199138.2(NLRC4):c.1379C>T (p.Thr460Met)	Autoinflammatory syndrome [RCV002262083]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003774821]	uncertain significance	2	32250485	32250485	Human	3	name
153304124	CV1686798	single nucleotide variant	NM_001199138.2(NLRC4):c.1550G>C (p.Cys517Ser)	Autoinflammatory syndrome [RCV002262085]\|Inborn genetic diseases [RCV003095941]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003774822]\|not provided [RCV003222408]	likely benign\|uncertain significance	2	32250314	32250314	Human	4	name
153304127	CV1686800	single nucleotide variant	NM_001199138.2(NLRC4):c.1630G>T (p.Glu544Ter)	Autoinflammatory syndrome [RCV002262087]	likely pathogenic	2	32250234	32250234	Human	1	name
153304129	CV1686801	single nucleotide variant	NM_001199138.2(NLRC4):c.1724T>C (p.Phe575Ser)	Autoinflammatory syndrome [RCV002262088]	uncertain significance	2	32250140	32250140	Human	1	name
153304131	CV1686803	single nucleotide variant	NM_001199138.2(NLRC4):c.2156T>C (p.Val719Ala)	Autoinflammatory syndrome [RCV002262090]	uncertain significance	2	32249708	32249708	Human	1	name
153304136	CV1686806	single nucleotide variant	NM_001199138.2(NLRC4):c.2255C>A (p.Pro752Gln)	Autoinflammatory syndrome [RCV002262093]	uncertain significance	2	32249609	32249609	Human	1	name
153304137	CV1686807	single nucleotide variant	NM_001199138.2(NLRC4):c.2467G>A (p.Glu823Lys)	Autoinflammatory syndrome [RCV002262094]	uncertain significance	2	32238186	32238186	Human	1	name
153304139	CV1686808	single nucleotide variant	NM_001199138.2(NLRC4):c.2659C>A (p.Pro887Thr)	Autoinflammatory syndrome [RCV002262095]	uncertain significance	2	32235524	32235524	Human	1	name
153304140	CV1686809	single nucleotide variant	NM_001199138.2(NLRC4):c.2668T>A (p.Cys890Ser)	Autoinflammatory syndrome [RCV002262096]	uncertain significance	2	32235515	32235515	Human	1	name
153304141	CV1686810	single nucleotide variant	NM_001199138.2(NLRC4):c.2716G>A (p.Val906Ile)	Autoinflammatory syndrome [RCV002262097]\|Inborn genetic diseases [RCV004047427]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003095942]	uncertain significance	2	32235467	32235467	Human	4	name
153304143	CV1686811	single nucleotide variant	NM_001199138.2(NLRC4):c.2828A>T (p.Asn943Ile)	Autoinflammatory syndrome [RCV002262098]\|Familial cold autoinflammatory syndrome 4 [RCV004816990]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003448454]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005213638]	uncertain significance	2	32224720	32224720	Human	3	name
9686576	CV171256	single nucleotide variant	NM_001199138.2(NLRC4):c.1328A>C (p.His443Pro)	Familial cold autoinflammatory syndrome 4 [RCV000148929]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001227277]	pathogenic\|not provided	2	32250536	32250536	Human	2	name
155669466	CV1770916	single nucleotide variant	NM_001199138.2(NLRC4):c.1637T>G (p.Leu546Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002297254]	uncertain significance	2	32250227	32250227	Human	2	name
155677318	CV1771859	single nucleotide variant	NM_001199138.2(NLRC4):c.2545A>C (p.Lys849Gln)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002297875]	uncertain significance	2	32236316	32236316	Human	2	name
155737893	CV1774641	single nucleotide variant	NM_001199138.2(NLRC4):c.1779T>G (p.Asp593Glu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002302095]	uncertain significance	2	32250085	32250085	Human	2	name
155697352	CV1777245	single nucleotide variant	NM_001199138.2(NLRC4):c.2231A>G (p.His744Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002295392]	uncertain significance	2	32249633	32249633	Human	2	name
155694046	CV1779726	single nucleotide variant	NM_001199138.2(NLRC4):c.2789T>A (p.Phe930Tyr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002295081]	uncertain significance	2	32224759	32224759	Human	2	name
155796100	CV1861640	single nucleotide variant	NM_001199138.2(NLRC4):c.1333T>C (p.Ser445Pro)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005227784]\|not provided [RCV002469924]	pathogenic\|likely pathogenic	2	32250531	32250531	Human	2	name
156048550	CV1868879	single nucleotide variant	NM_001199138.2(NLRC4):c.1861A>G (p.Met621Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003052917]	uncertain significance	2	32250003	32250003	Human	2	name
156329257	CV1887592	single nucleotide variant	NM_001199138.2(NLRC4):c.1432G>C (p.Val478Leu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003089690]	uncertain significance	2	32250432	32250432	Human	2	name
156295575	CV1894199	single nucleotide variant	NM_001199138.2(NLRC4):c.1835T>C (p.Ile612Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003087677]	uncertain significance	2	32250029	32250029	Human	2	name
155991652	CV1894394	single nucleotide variant	NM_001199138.2(NLRC4):c.1852G>A (p.Gly618Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003076142]	uncertain significance	2	32250012	32250012	Human	2	name
156089618	CV1895438	single nucleotide variant	NM_001199138.2(NLRC4):c.1395G>C (p.Glu465Asp)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003080161]	uncertain significance	2	32250469	32250469	Human	2	name
156220792	CV1899766	single nucleotide variant	NM_001199138.2(NLRC4):c.1309C>A (p.Pro437Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003084987]	uncertain significance	2	32250555	32250555	Human	2	name
156303647	CV1916256	single nucleotide variant	NM_001199138.2(NLRC4):c.2021A>C (p.Lys674Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002599294]	uncertain significance	2	32249843	32249843	Human	2	name
156417789	CV1920449	single nucleotide variant	NM_001199138.2(NLRC4):c.2875G>A (p.Gly959Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002610953]	uncertain significance	2	32224673	32224673	Human	2	name
156300641	CV1929595	single nucleotide variant	NM_001199138.2(NLRC4):c.1754A>T (p.Tyr585Phe)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002647621]	uncertain significance	2	32250110	32250110	Human	2	name
156033682	CV1932542	single nucleotide variant	NM_001199138.2(NLRC4):c.2326A>G (p.Asn776Asp)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002637276]	uncertain significance	2	32241057	32241057	Human	2	name
155955237	CV1936297	single nucleotide variant	NM_001199138.2(NLRC4):c.1630G>C (p.Glu544Gln)	not provided [RCV002511961]	uncertain significance	2	32250234	32250234	Human		name
155955250	CV1936298	single nucleotide variant	NM_001199138.2(NLRC4):c.1426A>G (p.Lys476Glu)	not provided [RCV002511962]	uncertain significance	2	32250438	32250438	Human		name
156446430	CV1937904	single nucleotide variant	NM_001199138.2(NLRC4):c.1321T>C (p.Phe441Leu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003117934]	uncertain significance	2	32250543	32250543	Human	2	name
156222277	CV1960307	single nucleotide variant	NM_001199138.2(NLRC4):c.2552G>A (p.Ser851Asn)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002575573]	uncertain significance	2	32236309	32236309	Human	2	name
156407332	CV1960550	single nucleotide variant	NM_001199138.2(NLRC4):c.2089T>A (p.Cys697Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002586195]	uncertain significance	2	32249775	32249775	Human	2	name
156162390	CV1989741	single nucleotide variant	NM_001199138.2(NLRC4):c.2450G>A (p.Ser817Asn)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002642457]	uncertain significance	2	32238203	32238203	Human	2	name
155921799	CV1991345	single nucleotide variant	NM_001199138.2(NLRC4):c.2099T>G (p.Val700Gly)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002614594]	uncertain significance	2	32249765	32249765	Human	2	name
156167770	CV1993443	single nucleotide variant	NM_001199138.2(NLRC4):c.1894G>A (p.Gly632Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002642630]	uncertain significance	2	32249970	32249970	Human	2	name
156015184	CV2009102	single nucleotide variant	NM_001199138.2(NLRC4):c.1941G>T (p.Arg647Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002690727]	uncertain significance	2	32249923	32249923	Human	2	name
156015838	CV2010213	single nucleotide variant	NM_001199138.2(NLRC4):c.2804C>T (p.Pro935Leu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002735136]	uncertain significance	2	32224744	32224744	Human	2	name
155989602	CV2026871	single nucleotide variant	NM_001199138.2(NLRC4):c.1367G>A (p.Ser456Asn)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002755691]	uncertain significance	2	32250497	32250497	Human	2	name
155945736	CV2028858	single nucleotide variant	NM_001199138.2(NLRC4):c.2501C>T (p.Ala834Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002730389]	uncertain significance	2	32238152	32238152	Human	2	name
156201802	CV2034767	single nucleotide variant	NM_001199138.2(NLRC4):c.1558G>A (p.Gly520Arg)	Inborn genetic diseases [RCV004654020]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002766266]	uncertain significance	2	32250306	32250306	Human	3	name
155924953	CV2044992	single nucleotide variant	NM_001199138.2(NLRC4):c.2222T>C (p.Leu741Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002750886]	uncertain significance	2	32249642	32249642	Human	2	name
156334400	CV2057686	single nucleotide variant	NM_001199138.2(NLRC4):c.1739A>C (p.Gln580Pro)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002810857]	uncertain significance	2	32250125	32250125	Human	2	name
155952295	CV2058831	single nucleotide variant	NM_001199138.2(NLRC4):c.1094C>A (p.Thr365Asn)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002816333]	uncertain significance	2	32250770	32250770	Human	2	name
156376357	CV2059634	single nucleotide variant	NM_001199138.2(NLRC4):c.1699T>C (p.Ser567Pro)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002814725]	uncertain significance	2	32250165	32250165	Human	2	name
155932793	CV2060886	single nucleotide variant	NM_001199138.2(NLRC4):c.2678A>G (p.Gln893Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002815155]	uncertain significance	2	32235505	32235505	Human	2	name
156227312	CV2064413	single nucleotide variant	NM_001199138.2(NLRC4):c.2908T>A (p.Phe970Ile)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002829917]	uncertain significance	2	32224640	32224640	Human	2	name
155931494	CV2067320	single nucleotide variant	NM_001199138.2(NLRC4):c.1133A>G (p.His378Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002838788]	uncertain significance	2	32250731	32250731	Human	2	name
156110856	CV2077748	single nucleotide variant	NM_001199138.2(NLRC4):c.1195G>A (p.Glu399Lys)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002889182]	uncertain significance	2	32250669	32250669	Human	2	name
156126609	CV2088417	single nucleotide variant	NM_001199138.2(NLRC4):c.2037T>A (p.Tyr679Ter)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002871475]	uncertain significance	2	32249827	32249827	Human	2	name
156143370	CV2090761	single nucleotide variant	NM_001199138.2(NLRC4):c.2876G>A (p.Gly959Asp)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002890389]	uncertain significance	2	32224672	32224672	Human	2	name
156157786	CV2094980	single nucleotide variant	NM_001199138.2(NLRC4):c.1364T>G (p.Leu455Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002890871]	uncertain significance	2	32250500	32250500	Human	2	name
156268264	CV2097229	single nucleotide variant	NM_001199138.2(NLRC4):c.1360A>T (p.Arg454Ter)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002877515]	uncertain significance	2	32250504	32250504	Human	2	name
156091168	CV2102674	single nucleotide variant	NM_001199138.2(NLRC4):c.2038C>G (p.Leu680Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002913042]	uncertain significance	2	32249826	32249826	Human	2	name
155946491	CV2107901	single nucleotide variant	NM_001199138.2(NLRC4):c.1232A>C (p.Gln411Pro)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002904796]	uncertain significance	2	32250632	32250632	Human	2	name
156019751	CV2118518	single nucleotide variant	NM_001199138.2(NLRC4):c.1270A>C (p.Thr424Pro)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002948716]	uncertain significance	2	32250594	32250594	Human	2	name
156121688	CV2137597	single nucleotide variant	NM_001199138.2(NLRC4):c.2244T>A (p.Asn748Lys)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003003007]	uncertain significance	2	32249620	32249620	Human	2	name
156262889	CV2138761	single nucleotide variant	NM_001199138.2(NLRC4):c.1879G>A (p.Ala627Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002988531]	uncertain significance	2	32249985	32249985	Human	2	name
156249394	CV2147009	single nucleotide variant	NM_001199138.2(NLRC4):c.1027A>G (p.Ile343Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003008389]\|not provided [RCV005412465]	uncertain significance	2	32250837	32250837	Human	2	name
156182127	CV2155645	single nucleotide variant	NM_001199138.2(NLRC4):c.1664T>C (p.Val555Ala)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003005738]	uncertain significance	2	32250200	32250200	Human	2	name
156099818	CV2164258	single nucleotide variant	NM_001199138.2(NLRC4):c.1256A>C (p.Asp419Ala)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003038538]	uncertain significance	2	32250608	32250608	Human	2	name
156091207	CV2167038	single nucleotide variant	NM_001199138.2(NLRC4):c.1757T>C (p.Ile586Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003038224]	uncertain significance	2	32250107	32250107	Human	2	name
156335128	CV2178041	single nucleotide variant	NM_001199138.2(NLRC4):c.1711C>G (p.Leu571Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003047434]	uncertain significance	2	32250153	32250153	Human	2	name
156241237	CV2188892	single nucleotide variant	NM_001199138.2(NLRC4):c.1466G>T (p.Ser489Ile)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003059664]	uncertain significance	2	32250398	32250398	Human	2	name
156353536	CV2190595	single nucleotide variant	NM_001199138.2(NLRC4):c.1460A>G (p.Tyr487Cys)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003048512]	uncertain significance	2	32250404	32250404	Human	2	name
156209222	CV2298187	single nucleotide variant	NM_001199138.2(NLRC4):c.1003A>C (p.Met335Leu)	Inborn genetic diseases [RCV002875343]	uncertain significance	2	32250861	32250861	Human	1	name
156146078	CV2311063	single nucleotide variant	NM_001199138.2(NLRC4):c.2720C>T (p.Pro907Leu)	Inborn genetic diseases [RCV002915096]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005227850]	uncertain significance	2	32235463	32235463	Human	3	name
156262926	CV2314930	single nucleotide variant	NM_001199138.2(NLRC4):c.2714A>G (p.Glu905Gly)	Inborn genetic diseases [RCV002920618]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003777948]	likely benign\|uncertain significance	2	32235469	32235469	Human	3	name
156342467	CV2368557	single nucleotide variant	NM_001199138.2(NLRC4):c.2558T>C (p.Leu853Pro)	Inborn genetic diseases [RCV002674594]	uncertain significance	2	32236303	32236303	Human	1	name
156434509	CV2402967	single nucleotide variant	NM_001199138.2(NLRC4):c.1021G>T (p.Val341Leu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003126395]	pathogenic	2	32250843	32250843	Human	1	name
243057339	CV2408314	single nucleotide variant	NM_001199138.2(NLRC4):c.1798G>T (p.Glu600Ter)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003778735]\|not provided [RCV003133035]	uncertain significance	2	32250066	32250066	Human	2	name
329367463	CV2456821	single nucleotide variant	NM_001199138.2(NLRC4):c.1348A>C (p.Thr450Pro)	Inborn genetic diseases [RCV003208281]	uncertain significance	2	32250516	32250516	Human	1	name
329352389	CV2476787	single nucleotide variant	NM_001199138.2(NLRC4):c.2318T>C (p.Ile773Thr)	not provided [RCV003223019]	uncertain significance	2	32241065	32241065	Human		name
329352393	CV2476788	single nucleotide variant	NM_001199138.2(NLRC4):c.2177T>G (p.Ile726Arg)	not provided [RCV003223020]	uncertain significance	2	32249687	32249687	Human		name
401744098	CV2688096	single nucleotide variant	NM_001199138.2(NLRC4):c.2464C>A (p.Leu822Ile)	Inborn genetic diseases [RCV003275229]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005216027]	uncertain significance	2	32238189	32238189	Human	3	name
401764087	CV2700409	single nucleotide variant	NM_001199138.2(NLRC4):c.1271C>A (p.Thr424Asn)	Inborn genetic diseases [RCV003281737]	uncertain significance	2	32250593	32250593	Human	1	name
401829530	CV2743848	single nucleotide variant	NM_001199138.2(NLRC4):c.2945C>T (p.Ala982Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005209612]\|not provided [RCV003327025]	likely benign\|uncertain significance	2	32224603	32224603	Human	2	name
401830554	CV2748228	single nucleotide variant	NM_001199138.2(NLRC4):c.1807C>T (p.Pro603Ser)	not provided [RCV003329836]	uncertain significance	2	32250057	32250057	Human		name
401860108	CV2768489	single nucleotide variant	NM_001199138.2(NLRC4):c.1652T>G (p.Ile551Ser)	Inborn genetic diseases [RCV003357352]	uncertain significance	2	32250212	32250212	Human	1	name
401934682	CV2796019	single nucleotide variant	NM_001199138.2(NLRC4):c.1902C>G (p.Ile634Met)	NLRC4-related disorder [RCV003412031]	uncertain significance	2	32249962	32249962	Human		name , trait , alternate_id
401921168	CV2802259	single nucleotide variant	NM_001199138.2(NLRC4):c.2000G>A (p.Arg667Gln)	NLRC4-related disorder [RCV003402839]	uncertain significance	2	32249864	32249864	Human		name , trait , alternate_id
401940431	CV2839272	single nucleotide variant	NM_001199138.2(NLRC4):c.2908T>C (p.Phe970Leu)	Familial cold autoinflammatory syndrome 4 [RCV003448830]	uncertain significance	2	32224640	32224640	Human	1	name
404986933	CV3083603	single nucleotide variant	NM_001199138.2(NLRC4):c.2474T>G (p.Ile825Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003781954]	uncertain significance	2	32238179	32238179	Human	2	name
404987489	CV3083737	single nucleotide variant	NM_001199138.2(NLRC4):c.2334A>T (p.Glu778Asp)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003782090]	uncertain significance	2	32241049	32241049	Human	2	name
405013737	CV3083803	single nucleotide variant	NM_001199138.2(NLRC4):c.1128C>G (p.His376Gln)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003784596]	uncertain significance	2	32250736	32250736	Human	2	name
404991343	CV3084282	single nucleotide variant	NM_001199138.2(NLRC4):c.2375A>T (p.Lys792Met)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003782475]	uncertain significance	2	32238278	32238278	Human	2	name
404997095	CV3085710	single nucleotide variant	NM_001199138.2(NLRC4):c.2030T>A (p.Ile677Asn)	Inborn genetic diseases [RCV004654333]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003783080]	uncertain significance	2	32249834	32249834	Human	3	name
404984757	CV3087302	single nucleotide variant	NM_001199138.2(NLRC4):c.1573A>G (p.Lys525Glu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003781765]	uncertain significance	2	32250291	32250291	Human	2	name
402504511	CV3088742	single nucleotide variant	NM_001199138.2(NLRC4):c.1541A>C (p.Gln514Pro)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003779451]	uncertain significance	2	32250323	32250323	Human	2	name
402509175	CV3090819	single nucleotide variant	NM_001199138.2(NLRC4):c.2302C>T (p.Leu768Phe)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003789436]	uncertain significance	2	32241081	32241081	Human	2	name
402488840	CV3090841	single nucleotide variant	NM_001199138.2(NLRC4):c.1685A>G (p.Tyr562Cys)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003787343]	uncertain significance	2	32250179	32250179	Human	2	name
404992636	CV3091427	single nucleotide variant	NM_001199138.2(NLRC4):c.1680T>G (p.His560Gln)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003792902]	uncertain significance	2	32250184	32250184	Human	2	name
404992851	CV3091452	single nucleotide variant	NM_001199138.2(NLRC4):c.1257T>A (p.Asp419Glu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003792927]	uncertain significance	2	32250607	32250607	Human	2	name
402517798	CV3091759	single nucleotide variant	NM_001199138.2(NLRC4):c.2826G>C (p.Leu942Phe)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003790205]	uncertain significance	2	32224722	32224722	Human	2	name
402496586	CV3092510	single nucleotide variant	NM_001199138.2(NLRC4):c.1874A>G (p.Glu625Gly)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003788130]	uncertain significance	2	32249990	32249990	Human	2	name
404991977	CV3094311	single nucleotide variant	NM_001199138.2(NLRC4):c.2200T>C (p.Ser734Pro)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003782561]	uncertain significance	2	32249664	32249664	Human	2	name
405055633	CV3095098	single nucleotide variant	NM_001199138.2(NLRC4):c.1777G>A (p.Asp593Asn)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003798412]	uncertain significance	2	32250087	32250087	Human	2	name
405004975	CV3095986	single nucleotide variant	NM_001199138.2(NLRC4):c.1812T>G (p.Asn604Lys)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003794136]	uncertain significance	2	32250052	32250052	Human	2	name
405008557	CV3096274	single nucleotide variant	NM_001199138.2(NLRC4):c.1610T>C (p.Val537Ala)	Inborn genetic diseases [RCV005377565]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003794424]	uncertain significance	2	32250254	32250254	Human	3	name
404984397	CV3096454	single nucleotide variant	NM_001199138.2(NLRC4):c.2359C>G (p.Leu787Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003792003]	uncertain significance	2	32238294	32238294	Human	2	name
404986191	CV3096844	single nucleotide variant	NM_001199138.2(NLRC4):c.1561C>T (p.Leu521Phe)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003792233]	uncertain significance	2	32250303	32250303	Human	2	name
404987601	CV3097001	single nucleotide variant	NM_001199138.2(NLRC4):c.1244G>C (p.Ser415Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003792390]	uncertain significance	2	32250620	32250620	Human	2	name
405046092	CV3097301	single nucleotide variant	NM_001199138.2(NLRC4):c.2672A>C (p.Asp891Ala)	Inborn genetic diseases [RCV004953548]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003807881]	uncertain significance	2	32235511	32235511	Human	3	name
405046470	CV3097330	single nucleotide variant	NM_001199138.2(NLRC4):c.2325G>C (p.Met775Ile)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003807910]	uncertain significance	2	32241058	32241058	Human	2	name
405047945	CV3097444	single nucleotide variant	NM_001199138.2(NLRC4):c.2309T>G (p.Met770Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003808024]	uncertain significance	2	32241074	32241074	Human	2	name
405008236	CV3098579	single nucleotide variant	NM_001199138.2(NLRC4):c.1952T>C (p.Leu651Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003804510]	uncertain significance	2	32249912	32249912	Human	2	name
404978884	CV3099129	single nucleotide variant	NM_001199138.2(NLRC4):c.2900T>C (p.Leu967Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003791110]	uncertain significance	2	32224648	32224648	Human	2	name
404979642	CV3099454	single nucleotide variant	NM_001199138.2(NLRC4):c.2842C>T (p.Arg948Cys)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003791282]	uncertain significance	2	32224706	32224706	Human	2	name
405072551	CV3099913	single nucleotide variant	NM_001199138.2(NLRC4):c.2035T>C (p.Tyr679His)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003799628]	uncertain significance	2	32249829	32249829	Human	2	name
405020725	CV3101231	single nucleotide variant	NM_001199138.2(NLRC4):c.1895G>A (p.Gly632Asp)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003805810]	uncertain significance	2	32249969	32249969	Human	2	name
405066833	CV3103427	single nucleotide variant	NM_001199138.2(NLRC4):c.1625A>G (p.Glu542Gly)	Inborn genetic diseases [RCV005377567]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003799257]	uncertain significance	2	32250239	32250239	Human	3	name
405041715	CV3103638	single nucleotide variant	NM_001199138.2(NLRC4):c.1384C>T (p.His462Tyr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797356]	uncertain significance	2	32250480	32250480	Human	2	name
405042413	CV3103696	single nucleotide variant	NM_001199138.2(NLRC4):c.1171G>A (p.Asp391Asn)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797414]	uncertain significance	2	32250693	32250693	Human	2	name
405043150	CV3103752	single nucleotide variant	NM_001199138.2(NLRC4):c.2939A>T (p.Asp980Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797470]	uncertain significance	2	32224609	32224609	Human	2	name
405169639	CV3104248	single nucleotide variant	NM_001199138.2(NLRC4):c.2105G>A (p.Gly702Glu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003802925]	uncertain significance	2	32249759	32249759	Human	2	name
405015429	CV3104450	single nucleotide variant	NM_001199138.2(NLRC4):c.2351C>G (p.Ala784Gly)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003805319]	uncertain significance	2	32238302	32238302	Human	2	name
405093695	CV3105477	single nucleotide variant	NM_001199138.2(NLRC4):c.1067C>T (p.Ser356Phe)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003801193]	uncertain significance	2	32250797	32250797	Human	2	name
405009667	CV3106024	single nucleotide variant	NM_001199138.2(NLRC4):c.2828A>G (p.Asn943Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003794522]	uncertain significance	2	32224720	32224720	Human	2	name
405037202	CV3106273	single nucleotide variant	NM_001199138.2(NLRC4):c.1252G>A (p.Glu418Lys)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003796964]	uncertain significance	2	32250612	32250612	Human	2	name
405011664	CV3106395	single nucleotide variant	NM_001199138.2(NLRC4):c.1706C>T (p.Ser569Leu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003794732]	uncertain significance	2	32250158	32250158	Human	2	name
405166640	CV3107155	single nucleotide variant	NM_001199138.2(NLRC4):c.2111T>C (p.Leu704Pro)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003802646]	uncertain significance	2	32249753	32249753	Human	2	name
405084381	CV3107644	single nucleotide variant	NM_001199138.2(NLRC4):c.2602C>T (p.Leu868Phe)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003800515]	uncertain significance	2	32236259	32236259	Human	2	name
405054028	CV3107747	single nucleotide variant	NM_001199138.2(NLRC4):c.2617G>A (p.Asp873Asn)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003808492]	uncertain significance	2	32235566	32235566	Human	2	name
405088465	CV3108094	single nucleotide variant	NM_001199138.2(NLRC4):c.1543C>T (p.His515Tyr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003800792]	uncertain significance	2	32250321	32250321	Human	2	name
405059298	CV3108308	single nucleotide variant	NM_001199138.2(NLRC4):c.2615T>A (p.Ile872Asn)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003808886]	uncertain significance	2	32235568	32235568	Human	2	name
405059612	CV3108330	single nucleotide variant	NM_001199138.2(NLRC4):c.2669G>A (p.Cys890Tyr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003808908]	uncertain significance	2	32235514	32235514	Human	2	name
405159736	CV3109571	single nucleotide variant	NM_001199138.2(NLRC4):c.2756T>A (p.Leu919His)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003802095]	uncertain significance	2	32235427	32235427	Human	2	name
405153138	CV3110201	single nucleotide variant	NM_001199138.2(NLRC4):c.1982C>T (p.Thr661Ile)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003817721]	uncertain significance	2	32249882	32249882	Human	2	name
405066749	CV3110942	single nucleotide variant	NM_001199138.2(NLRC4):c.1331A>G (p.Lys444Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003809446]	uncertain significance	2	32250533	32250533	Human	2	name
405153580	CV3111164	single nucleotide variant	NM_001199138.2(NLRC4):c.1933C>T (p.Pro645Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003801620]	uncertain significance	2	32249931	32249931	Human	2	name
405154365	CV3111223	single nucleotide variant	NM_001199138.2(NLRC4):c.1047G>A (p.Met349Ile)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003801679]	uncertain significance	2	32250817	32250817	Human	2	name
405154406	CV3111226	single nucleotide variant	NM_001199138.2(NLRC4):c.1925C>A (p.Thr642Asn)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003801682]	uncertain significance	2	32249939	32249939	Human	2	name
405074116	CV3111497	single nucleotide variant	NM_001199138.2(NLRC4):c.1575G>T (p.Lys525Asn)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003809836]	uncertain significance	2	32250289	32250289	Human	2	name
405108886	CV3112428	single nucleotide variant	NM_001199138.2(NLRC4):c.1444G>C (p.Asp482His)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003813271]	uncertain significance	2	32250420	32250420	Human	2	name
405108902	CV3112431	single nucleotide variant	NM_001199138.2(NLRC4):c.1031C>T (p.Thr344Ile)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003813274]	uncertain significance	2	32250833	32250833	Human	2	name
405042726	CV3113000	single nucleotide variant	NM_001199138.2(NLRC4):c.2126G>A (p.Ser709Asn)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003807667]	uncertain significance	2	32249738	32249738	Human	2	name
405011669	CV3113941	single nucleotide variant	NM_001199138.2(NLRC4):c.2600C>T (p.Ala867Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003804963]	uncertain significance	2	32236261	32236261	Human	2	name
405288462	CV3197475	single nucleotide variant	NM_001199138.2(NLRC4):c.2949A>C (p.Leu983Phe)	NLRC4-related disorder [RCV003982571]	uncertain significance	2	32224599	32224599	Human		name , trait , alternate_id
405654010	CV3228078	single nucleotide variant	NM_001199138.2(NLRC4):c.1790A>G (p.Asp597Gly)	not specified [RCV003994811]	uncertain significance	2	32250074	32250074	Human		name
405707760	CV3358861	single nucleotide variant	NM_001199138.2(NLRC4):c.1273G>A (p.Gly425Arg)	Inborn genetic diseases [RCV004493382]	uncertain significance	2	32250591	32250591	Human	1	name
405707767	CV3358862	single nucleotide variant	NM_001199138.2(NLRC4):c.1442C>T (p.Ser481Leu)	Inborn genetic diseases [RCV004493383]	uncertain significance	2	32250422	32250422	Human	1	name
405707774	CV3358863	single nucleotide variant	NM_001199138.2(NLRC4):c.2278G>T (p.Gly760Cys)	Inborn genetic diseases [RCV004493384]	uncertain significance	2	32241105	32241105	Human	1	name
405707780	CV3358864	single nucleotide variant	NM_001199138.2(NLRC4):c.2501C>A (p.Ala834Glu)	Inborn genetic diseases [RCV004493385]	uncertain significance	2	32238152	32238152	Human	1	name
405707784	CV3358865	single nucleotide variant	NM_001199138.2(NLRC4):c.2629G>T (p.Val877Leu)	Inborn genetic diseases [RCV004493386]	uncertain significance	2	32235554	32235554	Human	1	name
405707792	CV3358866	single nucleotide variant	NM_001199138.2(NLRC4):c.2656C>G (p.Leu886Val)	Inborn genetic diseases [RCV004493387]	uncertain significance	2	32235527	32235527	Human	1	name
405707796	CV3358867	single nucleotide variant	NM_001199138.2(NLRC4):c.2657T>G (p.Leu886Arg)	Inborn genetic diseases [RCV004493388]	uncertain significance	2	32235526	32235526	Human	1	name
405866613	CV3401018	single nucleotide variant	NM_001199138.2(NLRC4):c.1212C>G (p.His404Gln)	Familial cold autoinflammatory syndrome 4 [RCV004577134]	uncertain significance	2	32250652	32250652	Human	1	name
407426905	CV3411705	single nucleotide variant	NM_001199138.2(NLRC4):c.2846T>C (p.Val949Ala)	not provided [RCV004590883]	uncertain significance	2	32224702	32224702	Human		name
407497631	CV3458717	single nucleotide variant	NM_001199138.2(NLRC4):c.2173A>C (p.Thr725Pro)	Inborn genetic diseases [RCV004643797]	uncertain significance	2	32249691	32249691	Human	1	name
596928979	CV3540677	single nucleotide variant	NM_001199138.2(NLRC4):c.1025T>G (p.Val342Gly)	not provided [RCV004795005]	uncertain significance	2	32250839	32250839	Human		name
597723675	CV3565960	single nucleotide variant	NM_001199138.2(NLRC4):c.2507C>T (p.Ala836Val)	Inborn genetic diseases [RCV004961819]	uncertain significance	2	32238146	32238146	Human	1	name
597723683	CV3565961	single nucleotide variant	NM_001199138.2(NLRC4):c.1693A>G (p.Ser565Gly)	Inborn genetic diseases [RCV004961820]	uncertain significance	2	32250171	32250171	Human	1	name
597723690	CV3565962	single nucleotide variant	NM_001199138.2(NLRC4):c.1190C>G (p.Ala397Gly)	Inborn genetic diseases [RCV004961821]	uncertain significance	2	32250674	32250674	Human	1	name
597895721	CV3865556	single nucleotide variant	NM_001199138.2(NLRC4):c.1019T>C (p.Phe340Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005219534]	uncertain significance	2	32250845	32250845	Human	2	name
597893969	CV3868446	single nucleotide variant	NM_001199138.2(NLRC4):c.1849T>C (p.Tyr617His)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005219298]	uncertain significance	2	32250015	32250015	Human	2	name
597881209	CV3869095	single nucleotide variant	NM_001199138.2(NLRC4):c.2774G>C (p.Arg925Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005217351]	uncertain significance	2	32235409	32235409	Human	2	name
597854609	CV3869889	single nucleotide variant	NM_001199138.2(NLRC4):c.1276C>T (p.Leu426Phe)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005213174]	uncertain significance	2	32250588	32250588	Human	2	name
597838352	CV3871040	single nucleotide variant	NM_001199138.2(NLRC4):c.1915G>T (p.Ala639Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005210700]	uncertain significance	2	32249949	32249949	Human	2	name
597876093	CV3871398	single nucleotide variant	NM_001199138.2(NLRC4):c.2969T>G (p.Val990Gly)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005216613]	uncertain significance	2	32224579	32224579	Human	2	name
597877919	CV3871821	single nucleotide variant	NM_001199138.2(NLRC4):c.1481C>G (p.Thr494Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005216872]	uncertain significance	2	32250383	32250383	Human	2	name
597848584	CV3872852	single nucleotide variant	NM_001199138.2(NLRC4):c.2336A>T (p.Asp779Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005212489]	uncertain significance	2	32241047	32241047	Human	2	name
597849171	CV3872924	single nucleotide variant	NM_001199138.2(NLRC4):c.1082C>A (p.Thr361Lys)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005212561]	uncertain significance	2	32250782	32250782	Human	2	name
597903060	CV3873150	single nucleotide variant	NM_001199138.2(NLRC4):c.1852G>T (p.Gly618Trp)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005220588]	uncertain significance	2	32250012	32250012	Human	2	name
597903537	CV3873224	single nucleotide variant	NM_001199138.2(NLRC4):c.2323A>G (p.Met775Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005220662]	uncertain significance	2	32241060	32241060	Human	2	name
597926663	CV3874018	single nucleotide variant	NM_001199138.2(NLRC4):c.2926G>T (p.Glu976Ter)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005224289]	uncertain significance	2	32224622	32224622	Human	2	name
597835715	CV3874264	single nucleotide variant	NM_001199138.2(NLRC4):c.2096G>C (p.Gly699Ala)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005210184]	uncertain significance	2	32249768	32249768	Human	2	name
597874833	CV3874983	single nucleotide variant	NM_001199138.2(NLRC4):c.1577G>C (p.Arg526Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005216459]	uncertain significance	2	32250287	32250287	Human	2	name
597886783	CV3876412	single nucleotide variant	NM_001199138.2(NLRC4):c.2744A>G (p.Lys915Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005218158]	uncertain significance	2	32235439	32235439	Human	2	name
598239347	CV3994724	single nucleotide variant	NM_001199138.2(NLRC4):c.1825C>G (p.Leu609Val)	Inborn genetic diseases [RCV005382908]	uncertain significance	2	32250039	32250039	Human	1	name
598208567	CV4007727	single nucleotide variant	NM_001199138.2(NLRC4):c.1908G>A (p.Met636Ile)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005400041]	uncertain significance	2	32249956	32249956	Human	2	name
617152494	CV4017963	single nucleotide variant	NM_001199138.2(NLRC4):c.1204T>C (p.Phe402Leu)	not specified [RCV005417753]	uncertain significance	2	32250660	32250660	Human		name
12912619	CV421394	single nucleotide variant	NM_001199138.2(NLRC4):c.1511C>T (p.Ala504Val)	not provided [RCV000492808]	uncertain significance	2	32250353	32250353	Human		name
13488803	CV443241	single nucleotide variant	NM_001199138.2(NLRC4):c.1999C>T (p.Arg667Trp)	not provided [RCV000523688]	uncertain significance	2	32249865	32249865	Human		name
13471077	CV450891	single nucleotide variant	NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val)	Autoinflammatory syndrome [RCV002263805]\|NLRC4-related disorder [RCV003925704]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000546624]\|not provided [RCV001706673]\|not specified [RCV002268166]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	32238296	32238296	Human	6	name , trait , alternate_id
13471077	CV450891	single nucleotide variant	NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val)	Autoinflammatory syndrome [RCV002263805]\|NLRC4-related disorder [RCV003925704]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000546624]\|not provided [RCV001706673]\|not specified [RCV002268166]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	32238296	32238297	Human	6	name , trait , alternate_id
13471648	CV451185	single nucleotide variant	NM_001199138.2(NLRC4):c.2785G>T (p.Ala929Ser)	Autoinflammatory syndrome [RCV002263807]\|NLRC4-related disorder [RCV003925705]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000546974]\|not provided [RCV002263806]\|not specified [RCV001821634]	benign	2	32224763	32224763	Human	3	name , trait , alternate_id
13493406	CV451188	single nucleotide variant	NM_001199138.2(NLRC4):c.2426A>G (p.Asp809Gly)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000558163]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003227790]	uncertain significance	2	32238227	32238227	Human	2	name
13624594	CV518198	single nucleotide variant	NM_001199138.2(NLRC4):c.2945C>G (p.Ala982Gly)	Autoinflammatory syndrome [RCV002263915]\|NLRC4-related disorder [RCV003965401]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652413]	likely benign	2	32224603	32224603	Human	3	name , trait , alternate_id
13624600	CV518206	single nucleotide variant	NM_001199138.2(NLRC4):c.2668T>C (p.Cys890Arg)	Autoinflammatory syndrome [RCV002263917]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652415]\|not provided [RCV004708981]	benign	2	32235515	32235515	Human	3	name
13624559	CV518208	single nucleotide variant	NM_001199138.2(NLRC4):c.1015C>A (p.Leu339Ile)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652409]	uncertain significance	2	32250849	32250849	Human	2	name
13624587	CV518213	single nucleotide variant	NM_001199138.2(NLRC4):c.1870T>A (p.Trp624Arg)	Autoinflammatory syndrome [RCV002263914]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652411]\|not provided [RCV004708980]	benign	2	32249994	32249994	Human	3	name
13704206	CV538349	single nucleotide variant	NM_001199138.2(NLRC4):c.1474C>T (p.Arg492Trp)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000660478]	uncertain significance	2	32250390	32250390	Human	2	name
13813211	CV558083	single nucleotide variant	NM_001199138.2(NLRC4):c.2968G>A (p.Val990Met)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000704206]	uncertain significance	2	32224580	32224580	Human	2	name
13802802	CV558452	single nucleotide variant	NM_001199138.2(NLRC4):c.2449A>G (p.Ser817Gly)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000698617]\|not provided [RCV001771979]	uncertain significance	2	32238204	32238204	Human	2	name
13803248	CV560629	single nucleotide variant	NM_001199138.2(NLRC4):c.1734C>A (p.Phe578Leu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000699034]	uncertain significance	2	32250130	32250130	Human	2	name
13815539	CV561507	single nucleotide variant	NM_001199138.2(NLRC4):c.2843G>A (p.Arg948His)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000705772]\|not provided [RCV002223926]	uncertain significance	2	32224705	32224705	Human	2	name
13811449	CV561520	single nucleotide variant	NM_001199138.2(NLRC4):c.1754A>G (p.Tyr585Cys)	Familial cold autoinflammatory syndrome 4 [RCV001334126]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000688756]	uncertain significance	2	32250110	32250110	Human	2	name
13816153	CV561522	single nucleotide variant	NM_001199138.2(NLRC4):c.1475G>A (p.Arg492Gln)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000691940]	uncertain significance	2	32250389	32250389	Human	2	name
13816024	CV561525	single nucleotide variant	NM_001199138.2(NLRC4):c.1160T>C (p.Ile387Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000692040]	uncertain significance	2	32250704	32250704	Human	2	name
14699368	CV624242	single nucleotide variant	NM_001199138.2(NLRC4):c.1010C>A (p.Thr337Asn)	not provided [RCV000788693]	likely pathogenic	2	32250854	32250854	Human		name
14703777	CV629969	single nucleotide variant	NM_001199138.2(NLRC4):c.2951T>C (p.Val984Ala)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000807528]	uncertain significance	2	32224597	32224597	Human	2	name
14719846	CV629970	single nucleotide variant	NM_001199138.2(NLRC4):c.2925A>C (p.Lys975Asn)	Inborn genetic diseases [RCV002538133]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000812783]\|not provided [RCV001172136]	uncertain significance	2	32224623	32224623	Human	3	name
14716683	CV629971	single nucleotide variant	NM_001199138.2(NLRC4):c.2882T>C (p.Phe961Ser)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000811655]	uncertain significance	2	32224666	32224666	Human	2	name
14743808	CV629972	single nucleotide variant	NM_001199138.2(NLRC4):c.2860T>A (p.Trp954Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000823683]	uncertain significance	2	32224688	32224688	Human	2	name
14712695	CV629973	single nucleotide variant	NM_001199138.2(NLRC4):c.2728G>A (p.Val910Ile)	Familial cold autoinflammatory syndrome 4 [RCV002468606]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000793887]\|not specified [RCV005407965]	uncertain significance	2	32235455	32235455	Human	2	name
14740969	CV629974	single nucleotide variant	NM_001199138.2(NLRC4):c.2713G>A (p.Glu905Lys)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000822046]	uncertain significance	2	32235470	32235470	Human	2	name
14739826	CV629975	single nucleotide variant	NM_001199138.2(NLRC4):c.2674G>A (p.Val892Met)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000805103]	uncertain significance	2	32235509	32235509	Human	2	name
14720906	CV629976	single nucleotide variant	NM_001199138.2(NLRC4):c.2647G>A (p.Ala883Thr)	Autoinflammatory syndrome [RCV002263988]\|Inborn genetic diseases [RCV002534612]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000796870]\|not provided [RCV004792481]	likely benign\|uncertain significance	2	32235536	32235536	Human	4	name
14734572	CV629977	single nucleotide variant	NM_001199138.2(NLRC4):c.2380T>C (p.Cys794Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000819165]\|See cases [RCV002252251]	uncertain significance	2	32238273	32238273	Human	2	name
14711217	CV629978	single nucleotide variant	NM_001199138.2(NLRC4):c.2368C>G (p.Leu790Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000793374]	uncertain significance	2	32238285	32238285	Human	2	name
14710500	CV629980	single nucleotide variant	NM_001199138.2(NLRC4):c.1897G>A (p.Gly633Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000793139]\|not provided [RCV002263979]	uncertain significance	2	32249967	32249967	Human	2	name
14716819	CV629981	single nucleotide variant	NM_001199138.2(NLRC4):c.1799A>G (p.Glu600Gly)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000795239]	uncertain significance	2	32250065	32250065	Human	2	name
14735560	CV629982	single nucleotide variant	NM_001199138.2(NLRC4):c.1651A>G (p.Ile551Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000803212]	uncertain significance	2	32250213	32250213	Human	2	name
14731045	CV629983	single nucleotide variant	NM_001199138.2(NLRC4):c.1571C>T (p.Ala524Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000801225]	uncertain significance	2	32250293	32250293	Human	2	name
14726721	CV629984	single nucleotide variant	NM_001199138.2(NLRC4):c.1229T>C (p.Leu410Pro)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000799324]	uncertain significance	2	32250635	32250635	Human	2	name
14704814	CV629985	single nucleotide variant	NM_001199138.2(NLRC4):c.1163G>A (p.Arg388Gln)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000791482]	uncertain significance	2	32250701	32250701	Human	2	name
15178871	CV708244	single nucleotide variant	NM_001199138.2(NLRC4):c.2628C>A (p.Asn876Lys)	Autoinflammatory syndrome [RCV002264118]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000973771]	likely benign	2	32235555	32235555	Human	3	name
15190161	CV733452	single nucleotide variant	NM_001199138.2(NLRC4):c.1651A>T (p.Ile551Phe)	NLRC4-related disorder [RCV004749533]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001441723]	likely benign\|uncertain significance	2	32250213	32250213	Human	2	name , trait , alternate_id
15124090	CV747604	single nucleotide variant	NM_001199138.2(NLRC4):c.2629G>A (p.Val877Met)	Autoinflammatory syndrome [RCV002264092]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000918927]\|not provided [RCV001091366]\|not specified [RCV005408079]	likely benign\|uncertain significance	2	32235554	32235554	Human	3	name
15151235	CV747607	single nucleotide variant	NM_001199138.2(NLRC4):c.1357C>T (p.Arg453Ter)	NLRC4-related disorder [RCV004749544]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000923633]\|not provided [RCV003132123]	pathogenic\|likely benign\|uncertain significance	2	32250507	32250507	Human	2	name , trait , alternate_id
15101800	CV763200	single nucleotide variant	NM_001199138.2(NLRC4):c.1564T>C (p.Ser522Pro)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000936869]	benign	2	32250300	32250300	Human	2	name
21066944	CV795228	single nucleotide variant	NM_001199138.2(NLRC4):c.1484G>A (p.Cys495Tyr)	not provided [RCV000997111]	uncertain significance	2	32250380	32250380	Human		name
21066945	CV795229	single nucleotide variant	NM_001199138.2(NLRC4):c.1329C>G (p.His443Gln)	not provided [RCV000997112]	likely pathogenic	2	32250535	32250535	Human		name
8625359	CV80482	single nucleotide variant	NM_001199138.1(NLRC4):c.2249G>A (p.Arg750Gln)	Malignant melanoma [RCV000060559]	not provided	2	32249615	32249615	Human		name
26913444	CV826439	single nucleotide variant	NM_001199138.2(NLRC4):c.2959C>T (p.Leu987Phe)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001054223]	uncertain significance	2	32224589	32224589	Human	2	name
26907664	CV826440	single nucleotide variant	NM_001199138.2(NLRC4):c.2818C>T (p.Gln940Ter)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001038069]	uncertain significance	2	32224730	32224730	Human	2	name
26912895	CV826441	single nucleotide variant	NM_001199138.2(NLRC4):c.2751G>T (p.Trp917Cys)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001053905]	uncertain significance	2	32235432	32235432	Human	2	name
26906840	CV826442	single nucleotide variant	NM_001199138.2(NLRC4):c.2680G>T (p.Gly894Cys)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001037658]	uncertain significance	2	32235503	32235503	Human	2	name
26901848	CV826444	single nucleotide variant	NM_001199138.2(NLRC4):c.2263C>A (p.Leu755Met)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001035785]	uncertain significance	2	32241120	32241120	Human	2	name
26921658	CV826445	single nucleotide variant	NM_001199138.2(NLRC4):c.1978A>G (p.Arg660Gly)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001061192]	uncertain significance	2	32249886	32249886	Human	2	name
26888980	CV826446	single nucleotide variant	NM_001199138.2(NLRC4):c.1628A>C (p.Gln543Pro)	Inborn genetic diseases [RCV002554515]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001067299]\|not provided [RCV002254950]	uncertain significance	2	32250236	32250236	Human	3	name
26914870	CV826447	single nucleotide variant	NM_001199138.2(NLRC4):c.1466G>C (p.Ser489Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001055275]	uncertain significance	2	32250398	32250398	Human	2	name
26905011	CV826448	single nucleotide variant	NM_001199138.2(NLRC4):c.1400T>C (p.Val467Ala)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001051135]	uncertain significance	2	32250464	32250464	Human	2	name
26885447	CV826449	single nucleotide variant	NM_001199138.2(NLRC4):c.1304T>A (p.Phe435Tyr)	NLRC4-related disorder [RCV003898048]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001043552]	uncertain significance	2	32250560	32250560	Human	2	name , trait , alternate_id
26888536	CV826450	single nucleotide variant	NM_001199138.2(NLRC4):c.1214A>G (p.Lys405Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001067134]	uncertain significance	2	32250650	32250650	Human	2	name
26888976	CV826451	single nucleotide variant	NM_001199138.2(NLRC4):c.1047G>T (p.Met349Ile)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001067298]	uncertain significance	2	32250817	32250817	Human	2	name
8630330	CV85485	single nucleotide variant	NM_001199138.1(NLRC4):c.1912G>A (p.Glu638Lys)	Malignant melanoma [RCV000065568]	not provided	2	32249952	32249952	Human		name
8630331	CV85486	single nucleotide variant	NM_001199138.1(NLRC4):c.1518G>A (p.Met506Ile)	Malignant melanoma [RCV000065569]	not provided	2	32250346	32250346	Human		name
38480343	CV922760	single nucleotide variant	NM_001199138.2(NLRC4):c.2369T>C (p.Leu790Pro)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001217498]	uncertain significance	2	32238284	32238284	Human	2	name
38478534	CV922761	single nucleotide variant	NM_001199138.2(NLRC4):c.2255C>T (p.Pro752Leu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001216639]	uncertain significance	2	32249609	32249609	Human	2	name
38482561	CV931395	single nucleotide variant	NM_001199138.2(NLRC4):c.2474T>C (p.Ile825Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001207310]\|not specified [RCV005419034]	uncertain significance	2	32238179	32238179	Human	2	name
38489330	CV931396	single nucleotide variant	NM_001199138.2(NLRC4):c.2458T>C (p.Cys820Arg)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001210160]	uncertain significance	2	32238195	32238195	Human	2	name
38483698	CV942907	single nucleotide variant	NM_001199138.2(NLRC4):c.2945C>A (p.Ala982Glu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001236029]	uncertain significance	2	32224603	32224603	Human	2	name
38498425	CV942908	single nucleotide variant	NM_001199138.2(NLRC4):c.2687T>A (p.Leu896Gln)	Autoinflammatory syndrome [RCV002264236]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001227748]	uncertain significance	2	32235496	32235496	Human	3	name
38484273	CV942909	single nucleotide variant	NM_001199138.2(NLRC4):c.2663G>A (p.Trp888Ter)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001236273]	uncertain significance	2	32235520	32235520	Human	2	name
38475134	CV942910	single nucleotide variant	NM_001199138.2(NLRC4):c.1621A>G (p.Thr541Ala)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001232490]	uncertain significance	2	32250243	32250243	Human	2	name
38489239	CV942911	single nucleotide variant	NM_001199138.2(NLRC4):c.1025T>C (p.Val342Ala)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001238333]	uncertain significance	2	32250839	32250839	Human	2	name
38463938	CV953087	single nucleotide variant	NM_001199138.2(NLRC4):c.2876G>C (p.Gly959Ala)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001247319]\|not provided [RCV001751504]	uncertain significance	2	32224672	32224672	Human	2	name
38491110	CV953088	single nucleotide variant	NM_001199138.2(NLRC4):c.1940G>A (p.Arg647Lys)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001239247]\|not provided [RCV002224035]	uncertain significance	2	32249924	32249924	Human	2	name
40903526	CV977190	single nucleotide variant	NM_001199138.2(NLRC4):c.1021G>C (p.Val341Leu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001270834]\|not provided [RCV001587311]	pathogenic	2	32250843	32250843	Human	1	name
126752219	CV988763	single nucleotide variant	NM_001199138.2(NLRC4):c.2386T>C (p.Phe796Leu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001307186]	uncertain significance	2	32238267	32238267	Human	2	name
126766472	CV988764	single nucleotide variant	NM_001199138.2(NLRC4):c.1162C>T (p.Arg388Trp)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001301892]\|not specified [RCV005408820]	uncertain significance	2	32250702	32250702	Human	2	name
126739146	CV988765	single nucleotide variant	NM_001199138.2(NLRC4):c.1090C>T (p.His364Tyr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001295569]	uncertain significance	2	32250774	32250774	Human	2	name
126757211	CV988766	single nucleotide variant	NM_001199138.2(NLRC4):c.1082C>T (p.Thr361Met)	Inborn genetic diseases [RCV005372627]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001298816]	uncertain significance	2	32250782	32250782	Human	3	name
151836611	CV1367284	single nucleotide variant	NM_001199138.2(NLRC4):c.3025G>T (p.Asp1009Tyr)	Inborn genetic diseases [RCV003264366]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001994259]	uncertain significance	2	32224523	32224523	Human	3	name
151732093	CV1512502	single nucleotide variant	NM_001199138.2(NLRC4):c.3004C>T (p.Leu1002Phe)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002041309]	uncertain significance	2	32224544	32224544	Human	2	name
156177707	CV1891911	single nucleotide variant	NM_001199138.2(NLRC4):c.3004C>A (p.Leu1002Ile)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003083451]	uncertain significance	2	32224544	32224544	Human	2	name
405072445	CV3099906	single nucleotide variant	NM_001199138.2(NLRC4):c.3026A>G (p.Asp1009Gly)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003799621]	uncertain significance	2	32224522	32224522	Human	2	name
405084764	CV3107673	single nucleotide variant	NM_001199138.2(NLRC4):c.3070G>A (p.Ala1024Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003800544]	uncertain significance	2	32224478	32224478	Human	2	name
597896987	CV3866131	single nucleotide variant	NM_001199138.2(NLRC4):c.3025G>C (p.Asp1009His)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005219748]	uncertain significance	2	32224523	32224523	Human	2	name
597913344	CV3879978	single nucleotide variant	NM_001199138.2(NLRC4):c.3002G>C (p.Arg1001Thr)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005222217]	uncertain significance	2	32224546	32224546	Human	2	name
13624558	CV518199	single nucleotide variant	NM_001199138.2(NLRC4):c.3052G>A (p.Ala1018Thr)	Inborn genetic diseases [RCV004957962]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652407]	uncertain significance	2	32224496	32224496	Human	3	name
13815416	CV561506	single nucleotide variant	NM_001199138.2(NLRC4):c.3033T>G (p.Asp1011Glu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000705693]	likely benign\|uncertain significance	2	32224515	32224515	Human	2	name
14724456	CV629967	single nucleotide variant	NM_001199138.2(NLRC4):c.3062T>A (p.Leu1021Gln)	Inborn genetic diseases [RCV002537993]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000798401]	uncertain significance	2	32224486	32224486	Human	3	name
14735049	CV629968	single nucleotide variant	NM_001199138.2(NLRC4):c.3053C>G (p.Ala1018Gly)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000819412]	uncertain significance	2	32224495	32224495	Human	2	name
38478760	CV922759	single nucleotide variant	NM_001199138.2(NLRC4):c.3064G>C (p.Val1022Leu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001216755]	uncertain significance	2	32224484	32224484	Human	2	name
127306410	CV1112800	deletion	NM_001199138.2(NLRC4):c.915_943del (p.Gln306fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001462775]	likely benign	2	32250921	32250949	Human	2	name
126772835	CV1004032	deletion	NM_001199138.2(NLRC4):c.327_329del (p.His110del)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001323983]	uncertain significance	2	32251535	32251537	Human	2	name
597848471	CV3872838	microsatellite	NM_001199138.2(NLRC4):c.2372AGA[1] (p.Lys792del)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005212475]	uncertain significance	2	32238276	32238278	Human		name
126732808	CV1019644	microsatellite	NM_001199138.2(NLRC4):c.2268_2271del (p.Asp757fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002124489]\|not specified [RCV004700657]	pathogenic\|likely benign	2	32241112	32241115	Human		name
126759458	CV1024490	deletion	NM_001199138.2(NLRC4):c.2560_2564del (p.Asp854fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001340134]	uncertain significance	2	32236297	32236301	Human	2	name
150529115	CV1288664	deletion	NM_001199138.2(NLRC4):c.1666_1696del (p.Glu556fs)	not provided [RCV001727132]	uncertain significance	2	32250168	32250198	Human		name
151832877	CV1388167	deletion	NM_001199138.2(NLRC4):c.2112_2113del (p.Ser705fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001955849]	uncertain significance	2	32249751	32249752	Human	2	name
151827003	CV1396284	deletion	NM_001199138.2(NLRC4):c.1764_1765del (p.Gly589fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001934678]	uncertain significance	2	32250099	32250100	Human	2	name
151728852	CV1483014	deletion	NM_001199138.2(NLRC4):c.1585_1586del (p.Trp529fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001892033]	uncertain significance	2	32250278	32250279	Human	2	name
153304123	CV1686797	duplication	NM_001199138.2(NLRC4):c.1409_1410dup (p.Asn471fs)	Autoinflammatory syndrome [RCV002262084]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005225590]	likely benign\|uncertain significance	2	32250453	32250454	Human	3	name
156390271	CV1990057	microsatellite	NM_001199138.2(NLRC4):c.1203_1204del (p.Phe402fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002604608]	uncertain significance	2	32250660	32250661	Human		name
405071399	CV3099864	deletion	NM_001199138.2(NLRC4):c.2765_2766del (p.Thr922fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003799579]	uncertain significance	2	32235417	32235418	Human	2	name
597901590	CV3876668	insertion	NM_001199138.2(NLRC4):c.731_732insCC (p.Phe245fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005220366]	likely benign	2	32251132	32251133	Human	2	name
14397114	CV612608	microsatellite	NM_001199138.2(NLRC4):c.2759_2760del (p.Thr920fs)	not provided [RCV000762265]	uncertain significance	2	32235423	32235424	Human		name
21066943	CV795227	deletion	NM_001199138.2(NLRC4):c.2387_2388del (p.Phe796fs)	not provided [RCV000997110]	uncertain significance	2	32238265	32238266	Human		name
26893109	CV826443	microsatellite	NM_001199138.2(NLRC4):c.2443_2444del (p.Leu815fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001047216]	uncertain significance	2	32238209	32238210	Human		name
126736104	CV988767	microsatellite	NM_001199138.2(NLRC4):c.1075_1076del (p.Gln359fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001304695]	uncertain significance	2	32250788	32250789	Human		name
151753951	CV1342531	deletion	NM_001199138.2(NLRC4):c.2672_2674del (p.Asp891del)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001986567]	uncertain significance	2	32235509	32235511	Human	2	name
598208572	CV4007728	deletion	NM_001199138.2(NLRC4):c.1621_1623del (p.Thr541del)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005400042]	uncertain significance	2	32250241	32250243	Human	2	name
13805542	CV561528	indel	NM_001199138.2(NLRC4):c.176_178delinsGG (p.Leu59fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000685768]	uncertain significance	2	32252503	32252505	Human		name
126915173	CV1041461	indel	NM_001199138.2(NLRC4):c.542_543delinsAC (p.Arg181His)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001370758]	uncertain significance	2	32251321	32251322	Human		name
156015899	CV1993251	indel	NM_001199138.2(NLRC4):c.612_613delinsAA (p.Leu205Ile)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002636463]	uncertain significance	2	32251251	32251252	Human		name
155930518	CV2155812	indel	NM_001199138.2(NLRC4):c.542_543delinsCC (p.Arg181Pro)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003013607]	uncertain significance	2	32251321	32251322	Human		name
151792476	CV1482494	indel	NM_001199138.2(NLRC4):c.1824_1825delinsTG (p.Leu609Val)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002047236]	uncertain significance	2	32250039	32250040	Human		name
405046932	CV3088236	indel	NM_001199138.2(NLRC4):c.2656_2657delinsGG (p.Leu886Gly)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797748]	uncertain significance	2	32235526	32235527	Human		name
126760077	CV1024494	deletion	NM_001199138.2(NLRC4):c.1441_1449del (p.Ser481_Ile483del)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001340309]	uncertain significance	2	32250415	32250423	Human	2	name
151724714	CV1514999	deletion	NM_001199138.2(NLRC4):c.2634_2642del (p.Glu879_Leu881del)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001983539]	uncertain significance	2	32235541	32235549	Human	2	name
597891882	CV3867963	deletion	NM_001199138.2(NLRC4):c.1597_1605del (p.Leu534_Ser536del)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005218991]	uncertain significance	2	32250259	32250267	Human	2	name
156016928	CV2120609	duplication	NM_001199138.2(NLRC4):c.1897_1899dup (p.Gly633_Ile634insGly)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002975953]	uncertain significance	2	32249964	32249965	Human	2	name
38469583	CV931397	deletion	NM_001199138.2(NLRC4):c.2430_2433del (p.Asp809_Tyr810insTer)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001202442]	uncertain significance	2	32238220	32238223	Human	2	name
126908356	CV1041460	microsatellite	NM_001199138.2(NLRC4):c.741_742insTTTTTTTTTTNNNNNNNNNNGGGAGACCGTGGAGGGAGACGGAGACGGAGACGGAGACGGAGACGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGTTCTTTTCCTTCTT (p.Leu247_Asp248insPhePhePheXaaXaaXaaXaaGlyAspArgGlyGlyArgArgArgArgArgArgArgArgArgArgArgGlyArgG ... (more) lyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgValLeuPheLeuLeu)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001367771]	uncertain significance	2	32251122	32251123	Human		name
405044012	CV3101035	insertion	NM_001199138.2(NLRC4):c.1758_1759insGGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGCCTCCCTCTCCCTCTCCCCGTCTCCCTCTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGCTTATATATC (p.Asn587fs)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003807735]	uncertain significance	2	32250105	32250106	Human	2	name

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