Nfat5 Variant Search Result - Rat Genome Database

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778 records found for search term Nfat5

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150464718	CV1215315	single nucleotide variant	NM_138713.4(NFAT5):c.*172A>G	not provided [RCV001614014]	benign	16	69696523	69696523	Human		name
151877975	CV1483239	single nucleotide variant	NM_138713.4(NFAT5):c.813-5C>G	Immunodeficiency [RCV001886095]	likely benign\|uncertain significance	16	69653231	69653231	Human	1	name
14734241	CV653059	single nucleotide variant	NM_138713.4(NFAT5):c.812+4G>A	Immunodeficiency [RCV000819030]	uncertain significance	16	69647590	69647590	Human	1	name
126738001	CV1012339	single nucleotide variant	NM_138713.4(NFAT5):c.1504+8C>G	Immunodeficiency [RCV001324872]	uncertain significance	16	69670119	69670119	Human	1	name
127306544	CV1125539	single nucleotide variant	NM_138713.4(NFAT5):c.1923+9T>A	Immunodeficiency [RCV001462803]	likely benign	16	69691097	69691097	Human	1	name
127310720	CV1146446	single nucleotide variant	NM_138713.4(NFAT5):c.4415-6C>T	Immunodeficiency [RCV001501433]	likely benign	16	69695130	69695130	Human	1	name
127315694	CV1157804	single nucleotide variant	NM_138713.4(NFAT5):c.812+19T>A	Immunodeficiency [RCV001520102]	benign	16	69647605	69647605	Human	1	name
151865682	CV1357852	single nucleotide variant	NM_138713.4(NFAT5):c.1005+3A>G	Immunodeficiency [RCV001905853]	uncertain significance	16	69653431	69653431	Human	1	name
151879726	CV1395662	single nucleotide variant	NM_138713.4(NFAT5):c.1774+7A>G	Immunodeficiency [RCV001999375]	uncertain significance	16	69684977	69684977	Human	1	name
151817079	CV1441105	duplication	NM_138713.4(NFAT5):c.1923+8dup	Immunodeficiency [RCV001933777]	likely benign\|uncertain significance	16	69691095	69691096	Human	1	name
151730661	CV1463943	single nucleotide variant	NM_138713.4(NFAT5):c.1691-2A>T	Immunodeficiency [RCV001946012]	uncertain significance	16	69684885	69684885	Human	1	name
151864949	CV1509627	single nucleotide variant	NM_138713.4(NFAT5):c.1005+1G>A	Immunodeficiency [RCV001924485]	uncertain significance	16	69653429	69653429	Human	1	name
152111783	CV1520467	single nucleotide variant	NM_138713.4(NFAT5):c.1196+7A>G	Immunodeficiency [RCV002196870]	likely benign	16	69655806	69655806	Human	1	name
152027588	CV1520897	single nucleotide variant	NM_138713.4(NFAT5):c.1370-5C>T	Immunodeficiency [RCV002085179]	likely benign	16	69669972	69669972	Human	1	name
152076405	CV1542887	deletion	NM_138713.4(NFAT5):c.813-11del	Immunodeficiency [RCV002130277]	likely benign	16	69653223	69653223	Human	1	name
152068131	CV1571123	duplication	NM_138713.4(NFAT5):c.1691-6dup	Immunodeficiency [RCV002129245]	benign	16	69684873	69684874	Human	1	name
152099938	CV1578667	deletion	NM_138713.4(NFAT5):c.1691-6del	Immunodeficiency [RCV002151685]	benign	16	69684874	69684874	Human	1	name
152063303	CV1587764	single nucleotide variant	NM_138713.4(NFAT5):c.1775-4G>A	Immunodeficiency [RCV002090526]	likely benign	16	69690936	69690936	Human	1	name
152026525	CV1594646	single nucleotide variant	NM_138713.4(NFAT5):c.1504+8C>T	Immunodeficiency [RCV002104585]	likely benign	16	69670119	69670119	Human	1	name
152133845	CV1652050	single nucleotide variant	NM_138713.4(NFAT5):c.1504+9G>A	Immunodeficiency [RCV002199679]	likely benign	16	69670120	69670120	Human	1	name
156064039	CV1877954	single nucleotide variant	NM_138713.4(NFAT5):c.1775-8A>G	Immunodeficiency [RCV003037357]	likely benign\|uncertain significance	16	69690932	69690932	Human	1	name
156213360	CV1902609	single nucleotide variant	NM_138713.4(NFAT5):c.1005+7A>G	Immunodeficiency [RCV003084690]	likely benign	16	69653435	69653435	Human	1	name
155987190	CV2153958	single nucleotide variant	NM_138713.4(NFAT5):c.1775-5T>C	Immunodeficiency [RCV003016648]	likely benign	16	69690935	69690935	Human	1	name
405139333	CV2937856	single nucleotide variant	NM_138713.4(NFAT5):c.1505-6A>G	Immunodeficiency [RCV003755112]	likely benign	16	69670230	69670230	Human	1	name
405155573	CV3077288	single nucleotide variant	NM_138713.4(NFAT5):c.812+20A>T	Immunodeficiency [RCV003756613]	likely benign	16	69647606	69647606	Human	1	name
597838007	CV3740262	single nucleotide variant	NM_138713.4(NFAT5):c.812+18T>A	Immunodeficiency [RCV005064290]	likely benign	16	69647604	69647604	Human	1	name
597839580	CV3772983	single nucleotide variant	NM_138713.4(NFAT5):c.1924-4T>G	Immunodeficiency [RCV005113047]	likely benign	16	69691745	69691745	Human	1	name
597867346	CV3794044	single nucleotide variant	NM_138713.4(NFAT5):c.1775-6A>G	Immunodeficiency [RCV005142410]	likely benign	16	69690934	69690934	Human	1	name
597888415	CV3811995	single nucleotide variant	NM_138713.4(NFAT5):c.1923+9T>C	Immunodeficiency [RCV005163648]	likely benign	16	69691097	69691097	Human	1	name
597881420	CV3819783	single nucleotide variant	NM_138713.4(NFAT5):c.1923+6C>A	Immunodeficiency [RCV005156483]	uncertain significance	16	69691094	69691094	Human	1	name
13806232	CV570388	single nucleotide variant	NM_138713.4(NFAT5):c.1691-3T>C	Immunodeficiency [RCV000686134]	uncertain significance	16	69684884	69684884	Human	1	name
14740890	CV652755	single nucleotide variant	NM_138713.4(NFAT5):c.1197-3T>C	Immunodeficiency [RCV000805557]	uncertain significance	16	69659724	69659724	Human	1	name
15124507	CV760465	single nucleotide variant	NM_138713.4(NFAT5):c.1005+4T>C	Immunodeficiency [RCV000918996]\|NFAT5-related disorder [RCV003950861]\|not provided [RCV001726370]	likely benign	16	69653432	69653432	Human	1	name , trait , alternate_id
15105753	CV788064	single nucleotide variant	NM_138713.4(NFAT5):c.4414+7A>G	Immunodeficiency [RCV001440460]	likely benign	16	69694246	69694246	Human	1	name
26896520	CV852125	single nucleotide variant	NM_138713.4(NFAT5):c.1557+5A>T	Immunodeficiency [RCV001069964]	uncertain significance	16	69670293	69670293	Human	1	name
127262852	CV1104145	single nucleotide variant	NM_138713.4(NFAT5):c.1504+11A>G	Immunodeficiency [RCV001439147]	likely benign	16	69670122	69670122	Human	1	name
127296152	CV1157805	duplication	NM_138713.4(NFAT5):c.1197-10dup	Immunodeficiency [RCV001512438]	benign	16	69659709	69659710	Human	1	name
127298400	CV1157806	single nucleotide variant	NM_138713.4(NFAT5):c.1370-17C>A	Immunodeficiency [RCV001513246]\|not provided [RCV004711701]	benign	16	69669960	69669960	Human	1	name
127310259	CV1157808	deletion	NM_138713.4(NFAT5):c.1557+20del	Immunodeficiency [RCV001518207]\|not specified [RCV003399301]	benign	16	69670302	69670302	Human	1	name
127308235	CV1157809	single nucleotide variant	NM_138713.4(NFAT5):c.4415-10G>A	Immunodeficiency [RCV001517420]	benign	16	69695126	69695126	Human	1	name
151858909	CV1406506	single nucleotide variant	NM_138713.4(NFAT5):c.1370-13T>C	Immunodeficiency [RCV001958964]	likely benign	16	69669964	69669964	Human	1	name
152115310	CV1526074	single nucleotide variant	NM_138713.4(NFAT5):c.1775-20T>C	Immunodeficiency [RCV002174853]	benign	16	69690920	69690920	Human	1	name
152089994	CV1550526	single nucleotide variant	NM_138713.4(NFAT5):c.4415-19G>T	Immunodeficiency [RCV002131925]	benign	16	69695117	69695117	Human	1	name
152071204	CV1552054	single nucleotide variant	NM_138713.4(NFAT5):c.1557+14T>G	Immunodeficiency [RCV002148102]	likely benign	16	69670302	69670302	Human	1	name
152151569	CV1559697	single nucleotide variant	NM_138713.4(NFAT5):c.1369+16C>T	Immunodeficiency [RCV002220896]	benign	16	69659915	69659915	Human	1	name
152138484	CV1563530	single nucleotide variant	NM_138713.4(NFAT5):c.1775-18G>T	Immunodeficiency [RCV002200268]	likely benign	16	69690922	69690922	Human	1	name
152174489	CV1567197	deletion	NM_138713.4(NFAT5):c.1557+13del	Immunodeficiency [RCV002163175]	likely benign	16	69670301	69670301	Human	1	name
152033788	CV1610449	single nucleotide variant	NM_138713.4(NFAT5):c.1775-20T>G	Immunodeficiency [RCV002124994]	benign	16	69690920	69690920	Human	1	name
152075329	CV1616675	single nucleotide variant	NM_138713.4(NFAT5):c.1370-14A>G	Immunodeficiency [RCV002210516]	likely benign	16	69669963	69669963	Human	1	name
152026831	CV1626638	single nucleotide variant	NM_138713.4(NFAT5):c.1197-16T>A	Immunodeficiency [RCV002185292]	benign	16	69659711	69659711	Human	1	name
152140431	CV1628772	single nucleotide variant	NM_138713.4(NFAT5):c.1504+20G>A	Immunodeficiency [RCV002100700]	likely benign	16	69670131	69670131	Human	1	name
152105000	CV1633943	single nucleotide variant	NM_138713.4(NFAT5):c.1504+17G>A	Immunodeficiency [RCV002196034]	likely benign	16	69670128	69670128	Human	1	name
152028732	CV1642915	single nucleotide variant	NM_138713.4(NFAT5):c.1923+10A>G	Immunodeficiency [RCV002185934]	likely benign	16	69691098	69691098	Human	1	name
156413260	CV1904803	single nucleotide variant	NM_138713.4(NFAT5):c.1369+17G>A	Immunodeficiency [RCV002588105]	likely benign	16	69659916	69659916	Human	1	name
156151649	CV1934359	deletion	NM_138713.4(NFAT5):c.1197-10del	Immunodeficiency [RCV002663914]	benign	16	69659710	69659710	Human	1	name
156123733	CV1969300	single nucleotide variant	NM_138713.4(NFAT5):c.4414+11C>A	Immunodeficiency [RCV002593227]	likely benign	16	69694250	69694250	Human	1	name
155935395	CV2045702	single nucleotide variant	NM_138713.4(NFAT5):c.1775-18G>C	Immunodeficiency [RCV002751417]	likely benign	16	69690922	69690922	Human	1	name
156203313	CV2076582	single nucleotide variant	NM_138713.4(NFAT5):c.1006-17A>G	Immunodeficiency [RCV002852544]	likely benign	16	69655592	69655592	Human	1	name
156016807	CV2083496	duplication	NM_138713.4(NFAT5):c.1557+20dup	Immunodeficiency [RCV002866401]	benign	16	69670301	69670302	Human	1	name
156247250	CV2106340	single nucleotide variant	NM_138713.4(NFAT5):c.1557+12G>A	Immunodeficiency [RCV002933416]	likely benign	16	69670300	69670300	Human	1	name
156369561	CV2109628	single nucleotide variant	NM_138713.4(NFAT5):c.1370-16T>G	Immunodeficiency [RCV002942218]	likely benign\|uncertain significance	16	69669961	69669961	Human	1	name
156138780	CV2141442	single nucleotide variant	NM_138713.4(NFAT5):c.1558-16C>T	Immunodeficiency [RCV002982236]	likely benign	16	69677187	69677187	Human	1	name
401906715	CV2795678	single nucleotide variant	NM_138713.4(NFAT5):c.1690+73A>T	not specified [RCV003397030]	benign	16	69677408	69677408	Human		name
405138997	CV2940334	single nucleotide variant	NM_138713.4(NFAT5):c.1691-20A>G	Immunodeficiency [RCV003755079]	likely benign	16	69684867	69684867	Human	1	name
405139907	CV2940870	single nucleotide variant	NM_138713.4(NFAT5):c.1504+19G>A	Immunodeficiency [RCV003755103]	likely benign	16	69670130	69670130	Human	1	name
405178831	CV3147315	single nucleotide variant	NM_138713.4(NFAT5):c.1005+18C>T	Immunodeficiency [RCV003842217]	likely benign	16	69653446	69653446	Human	1	name
597852884	CV3743445	single nucleotide variant	NM_138713.4(NFAT5):c.1691-16A>C	Immunodeficiency [RCV005060795]	likely benign	16	69684871	69684871	Human	1	name
597861764	CV3798205	single nucleotide variant	NM_138713.4(NFAT5):c.4414+20C>G	Immunodeficiency [RCV005135985]	likely benign	16	69694259	69694259	Human	1	name
597889572	CV3823543	single nucleotide variant	NM_138713.4(NFAT5):c.1504+15T>C	Immunodeficiency [RCV005164963]	likely benign	16	69670126	69670126	Human	1	name
156299296	CV1933377	microsatellite	NM_138713.4(NFAT5):c.1775-19TG[6]	Immunodeficiency [RCV002629165]	likely benign	16	69690920	69690921	Human		name
156257455	CV2102550	microsatellite	NM_138713.4(NFAT5):c.1775-19TG[4]	Immunodeficiency [RCV002895460]	likely benign	16	69690921	69690922	Human		name
597937716	CV3759558	deletion	NM_138713.4(NFAT5):c.4415-25_4432del	Immunodeficiency [RCV005076678]	uncertain significance	16	69695086	69695128	Human	1	name
405285349	CV3212393	single nucleotide variant	NM_138713.4(NFAT5):c.39A>C (p.Leu13=)	NFAT5-related disorder [RCV003959001]	likely benign	16	69566340	69566340	Human		name , trait , alternate_id
127252827	CV1082340	single nucleotide variant	NM_138713.4(NFAT5):c.294T>C (p.Ala98=)	Immunodeficiency [RCV001400420]	likely benign	16	69647068	69647068	Human	1	name
405148273	CV3032827	duplication	NM_138713.4(NFAT5):c.1005+8_1005+16dup	Immunodeficiency [RCV003756044]	likely benign	16	69653429	69653430	Human	1	name
405151795	CV3058678	single nucleotide variant	NM_138713.4(NFAT5):c.288C>T (p.Gly96=)	Immunodeficiency [RCV003756399]	likely benign	16	69647062	69647062	Human	1	name
597873239	CV3803563	duplication	NM_138713.4(NFAT5):c.1006-12_1006-4dup	Immunodeficiency [RCV005148161]	likely benign	16	69655594	69655595	Human	1	name
127266287	CV1082341	single nucleotide variant	NM_138713.4(NFAT5):c.540G>A (p.Glu180=)	Immunodeficiency [RCV001403835]	likely benign	16	69647314	69647314	Human	1	name
127329844	CV1125533	single nucleotide variant	NM_138713.4(NFAT5):c.495A>G (p.Pro165=)	Immunodeficiency [RCV001470451]	likely benign	16	69647269	69647269	Human	1	name
127321197	CV1125534	single nucleotide variant	NM_138713.4(NFAT5):c.939G>A (p.Arg313=)	Immunodeficiency [RCV001467186]	likely benign	16	69653362	69653362	Human	1	name
127286378	CV1146434	single nucleotide variant	NM_138713.4(NFAT5):c.735C>T (p.Ala245=)	Immunodeficiency [RCV001494132]	likely benign	16	69647509	69647509	Human	1	name
127316475	CV1146435	single nucleotide variant	NM_138713.4(NFAT5):c.870A>G (p.Gln290=)	Immunodeficiency [RCV001482866]	likely benign	16	69653293	69653293	Human	1	name
127322957	CV1157803	single nucleotide variant	NM_138713.4(NFAT5):c.543G>A (p.Gly181=)	Immunodeficiency [RCV001523747]\|NFAT5-related disorder [RCV003980642]	benign	16	69647317	69647317	Human	1	name , trait , alternate_id
150490215	CV1274831	microsatellite	NM_138713.4(NFAT5):c.1005+14_1005+17del	Immunodeficiency [RCV002073296]\|not provided [RCV001700671]	benign\|likely benign	16	69653437	69653440	Human		name
151853721	CV1349339	single nucleotide variant	NM_138713.4(NFAT5):c.501G>A (p.Glu167=)	Immunodeficiency [RCV001923131]	likely benign\|uncertain significance	16	69647275	69647275	Human	1	name
151834305	CV1413030	single nucleotide variant	NM_138713.4(NFAT5):c.948T>C (p.Thr316=)	Immunodeficiency [RCV002014618]	likely benign	16	69653371	69653371	Human	1	name
152161079	CV1534638	single nucleotide variant	NM_138713.4(NFAT5):c.339C>T (p.Thr113=)	Immunodeficiency [RCV002140932]	likely benign	16	69647113	69647113	Human	1	name
152126502	CV1544778	single nucleotide variant	NM_138713.4(NFAT5):c.507G>A (p.Leu169=)	Immunodeficiency [RCV002154945]	likely benign	16	69647281	69647281	Human	1	name
152110088	CV1586058	single nucleotide variant	NM_138713.4(NFAT5):c.550T>C (p.Leu184=)	Immunodeficiency [RCV002134368]	likely benign	16	69647324	69647324	Human	1	name
152176223	CV1628526	single nucleotide variant	NM_138713.4(NFAT5):c.975T>C (p.Asp325=)	Immunodeficiency [RCV002164365]	likely benign	16	69653398	69653398	Human	1	name
152094382	CV1648890	single nucleotide variant	NM_138713.4(NFAT5):c.873T>C (p.Tyr291=)	Immunodeficiency [RCV002078137]	likely benign	16	69653296	69653296	Human	1	name
152064349	CV1654236	single nucleotide variant	NM_138713.4(NFAT5):c.999A>C (p.Thr333=)	Immunodeficiency [RCV002190940]	likely benign	16	69653422	69653422	Human	1	name
156353605	CV1884605	single nucleotide variant	NM_138713.4(NFAT5):c.642G>A (p.Glu214=)	Immunodeficiency [RCV003091168]	likely benign	16	69647416	69647416	Human	1	name
156411364	CV1893142	duplication	NM_138713.4(NFAT5):c.1197-13_1197-10dup	Immunodeficiency [RCV003072448]	likely benign	16	69659709	69659710	Human	1	name
156094710	CV1895829	single nucleotide variant	NM_138713.4(NFAT5):c.483C>T (p.Tyr161=)	Immunodeficiency [RCV003080357]	likely benign	16	69647257	69647257	Human	1	name
156371144	CV1923554	single nucleotide variant	NM_138713.4(NFAT5):c.327C>T (p.Thr109=)	Immunodeficiency [RCV002633394]	likely benign	16	69647101	69647101	Human	1	name
156006863	CV2015081	single nucleotide variant	NM_138713.4(NFAT5):c.390G>T (p.Val130=)	Immunodeficiency [RCV002690311]	likely benign	16	69647164	69647164	Human	1	name
156020679	CV2081448	single nucleotide variant	NM_138713.4(NFAT5):c.942C>T (p.Tyr314=)	Immunodeficiency [RCV002866590]	likely benign	16	69653365	69653365	Human	1	name
156305313	CV2105217	single nucleotide variant	NM_138713.4(NFAT5):c.453A>G (p.Pro151=)	Immunodeficiency [RCV002922790]	likely benign	16	69647227	69647227	Human	1	name
156147326	CV2119124	single nucleotide variant	NM_138713.4(NFAT5):c.741T>C (p.Ser247=)	Immunodeficiency [RCV002954445]	likely benign	16	69647515	69647515	Human	1	name
156301468	CV2149908	single nucleotide variant	NM_138713.4(NFAT5):c.780G>A (p.Thr260=)	Immunodeficiency [RCV003028114]	likely benign	16	69647554	69647554	Human	1	name
156073067	CV2201380	single nucleotide variant	NM_138713.4(NFAT5):c.83A>G (p.Lys28Arg)	not specified [RCV004077501]	uncertain significance	16	69568504	69568504	Human		name
405051016	CV2873612	single nucleotide variant	NM_138713.4(NFAT5):c.387C>T (p.Ala129=)	Immunodeficiency [RCV003592851]	likely benign	16	69647161	69647161	Human	1	name
405142205	CV2965668	single nucleotide variant	NM_138713.4(NFAT5):c.687G>A (p.Gly229=)	Immunodeficiency [RCV003755433]	likely benign	16	69647461	69647461	Human	1	name
405143683	CV2990636	single nucleotide variant	NM_138713.4(NFAT5):c.348C>A (p.Thr116=)	Immunodeficiency [RCV003755590]	likely benign	16	69647122	69647122	Human	1	name
405148793	CV3039860	single nucleotide variant	NM_138713.4(NFAT5):c.666A>G (p.Arg222=)	Immunodeficiency [RCV003756106]	likely benign	16	69647440	69647440	Human	1	name
405126356	CV3132782	single nucleotide variant	NM_138713.4(NFAT5):c.351C>T (p.Asp117=)	Immunodeficiency [RCV003837945]	likely benign	16	69647125	69647125	Human	1	name
405063712	CV3139662	single nucleotide variant	NM_138713.4(NFAT5):c.762G>A (p.Val254=)	Immunodeficiency [RCV003833009]	likely benign	16	69647536	69647536	Human	1	name
405206497	CV3154658	single nucleotide variant	NM_138713.4(NFAT5):c.804G>A (p.Ala268=)	Immunodeficiency [RCV003845168]	likely benign	16	69647578	69647578	Human	1	name
597847742	CV3736749	single nucleotide variant	NM_138713.4(NFAT5):c.747A>G (p.Lys249=)	Immunodeficiency [RCV005065908]	likely benign	16	69647521	69647521	Human	1	name
597839411	CV3758316	single nucleotide variant	NM_138713.4(NFAT5):c.474A>G (p.Thr158=)	Immunodeficiency [RCV005086151]	likely benign	16	69647248	69647248	Human	1	name
597848323	CV3786876	single nucleotide variant	NM_138713.4(NFAT5):c.477C>T (p.Val159=)	Immunodeficiency [RCV005123952]	likely benign	16	69647251	69647251	Human	1	name
597865910	CV3794259	single nucleotide variant	NM_138713.4(NFAT5):c.588T>C (p.Asp196=)	Immunodeficiency [RCV005140435]	likely benign	16	69647362	69647362	Human	1	name
597862336	CV3798857	single nucleotide variant	NM_138713.4(NFAT5):c.867A>G (p.Gly289=)	Immunodeficiency [RCV005136431]	likely benign	16	69653290	69653290	Human	1	name
597880041	CV3811136	single nucleotide variant	NM_138713.4(NFAT5):c.348C>T (p.Thr116=)	Immunodeficiency [RCV005155171]	likely benign	16	69647122	69647122	Human	1	name
597917482	CV3843408	single nucleotide variant	NM_138713.4(NFAT5):c.817T>C (p.Leu273=)	Immunodeficiency [RCV005192442]	likely benign	16	69653240	69653240	Human	1	name
597932075	CV3851747	single nucleotide variant	NM_138713.4(NFAT5):c.681G>A (p.Arg227=)	Immunodeficiency [RCV005206215]	likely benign	16	69647455	69647455	Human	1	name
597922422	CV3858435	single nucleotide variant	NM_138713.4(NFAT5):c.672A>G (p.Pro224=)	Immunodeficiency [RCV005197178]	likely benign	16	69647446	69647446	Human	1	name
597932621	CV3858775	single nucleotide variant	NM_138713.4(NFAT5):c.420G>A (p.Lys140=)	Immunodeficiency [RCV005207245]	likely benign	16	69647194	69647194	Human	1	name
13613779	CV530172	single nucleotide variant	NM_138713.4(NFAT5):c.504C>T (p.Asp168=)	Immunodeficiency [RCV000631396]	likely benign	16	69647278	69647278	Human	1	name
15101129	CV726762	single nucleotide variant	NM_138713.4(NFAT5):c.693A>G (p.Lys231=)	Immunodeficiency [RCV000892228]\|NFAT5-related disorder [RCV003940708]	benign\|likely benign	16	69647467	69647467	Human	1	name , trait , alternate_id
15155349	CV755346	single nucleotide variant	NM_138713.4(NFAT5):c.609C>T (p.Asn203=)	Immunodeficiency [RCV000924446]	likely benign	16	69647383	69647383	Human	1	name
15128838	CV771033	single nucleotide variant	NM_138713.4(NFAT5):c.468G>A (p.Arg156=)	Immunodeficiency [RCV001446642]	likely benign	16	69647242	69647242	Human	1	name
15186081	CV771034	single nucleotide variant	NM_138713.4(NFAT5):c.921G>A (p.Glu307=)	not provided [RCV000931248]	likely benign	16	69653344	69653344	Human		name
127244176	CV1082342	single nucleotide variant	NM_138713.4(NFAT5):c.1291T>C (p.Leu431=)	Immunodeficiency [RCV001398527]	likely benign	16	69659821	69659821	Human	1	name
127275949	CV1082343	single nucleotide variant	NM_138713.4(NFAT5):c.2157C>T (p.Ser719=)	Immunodeficiency [RCV001406996]	likely benign	16	69691982	69691982	Human	1	name
127237378	CV1082344	single nucleotide variant	NM_138713.4(NFAT5):c.2164C>T (p.Leu722=)	Immunodeficiency [RCV001397108]	likely benign	16	69691989	69691989	Human	1	name
127283812	CV1082345	single nucleotide variant	NM_138713.4(NFAT5):c.2448C>A (p.Val816=)	Immunodeficiency [RCV001412029]	likely benign	16	69692273	69692273	Human	1	name
127283156	CV1082346	single nucleotide variant	NM_138713.4(NFAT5):c.2793A>G (p.Ser931=)	Immunodeficiency [RCV001411587]	likely benign	16	69692618	69692618	Human	1	name
127277629	CV1104143	single nucleotide variant	NM_138713.4(NFAT5):c.1428A>G (p.Lys476=)	Immunodeficiency [RCV001444541]	likely benign	16	69670035	69670035	Human	1	name
127260403	CV1104144	single nucleotide variant	NM_138713.4(NFAT5):c.1452C>T (p.Ile484=)	Immunodeficiency [RCV001438569]	likely benign	16	69670059	69670059	Human	1	name
127240605	CV1104146	single nucleotide variant	NM_138713.4(NFAT5):c.1539T>C (p.Asp513=)	Immunodeficiency [RCV001434258]	likely benign	16	69670270	69670270	Human	1	name
127282565	CV1104147	single nucleotide variant	NM_138713.4(NFAT5):c.1872T>C (p.Asp624=)	Immunodeficiency [RCV001447940]	likely benign	16	69691037	69691037	Human	1	name
127275611	CV1104148	single nucleotide variant	NM_138713.4(NFAT5):c.2046G>A (p.Gln682=)	Immunodeficiency [RCV001432453]	likely benign	16	69691871	69691871	Human	1	name
127267487	CV1104149	single nucleotide variant	NM_138713.4(NFAT5):c.2736C>T (p.Ala912=)	Immunodeficiency [RCV001429721]	likely benign	16	69692561	69692561	Human	1	name
127269785	CV1104150	single nucleotide variant	NM_138713.4(NFAT5):c.2823T>C (p.Asn941=)	Immunodeficiency [RCV001430366]	likely benign	16	69692648	69692648	Human	1	name
127250669	CV1104151	single nucleotide variant	NM_138713.4(NFAT5):c.2955T>G (p.Ser985=)	Immunodeficiency [RCV001425417]	likely benign	16	69692780	69692780	Human	1	name
127259559	CV1104152	single nucleotide variant	NM_138713.4(NFAT5):c.2958A>C (p.Thr986=)	Immunodeficiency [RCV001438378]	likely benign	16	69692783	69692783	Human	1	name
127311107	CV1125535	single nucleotide variant	NM_138713.4(NFAT5):c.1074A>C (p.Pro358=)	Immunodeficiency [RCV001464090]	likely benign	16	69655677	69655677	Human	1	name
127309812	CV1125536	single nucleotide variant	NM_138713.4(NFAT5):c.1164C>T (p.Val388=)	Immunodeficiency [RCV001456443]	likely benign	16	69655767	69655767	Human	1	name
127334633	CV1125537	single nucleotide variant	NM_138713.4(NFAT5):c.1230T>C (p.Asn410=)	Immunodeficiency [RCV001473717]	likely benign	16	69659760	69659760	Human	1	name
127298233	CV1125538	single nucleotide variant	NM_138713.4(NFAT5):c.1791A>G (p.Gly597=)	Immunodeficiency [RCV001477857]	likely benign	16	69690956	69690956	Human	1	name
127303650	CV1125540	single nucleotide variant	NM_138713.4(NFAT5):c.2079G>T (p.Leu693=)	Immunodeficiency [RCV001454806]	likely benign	16	69691904	69691904	Human	1	name
127329327	CV1125541	single nucleotide variant	NM_138713.4(NFAT5):c.2541T>C (p.Asp847=)	Immunodeficiency [RCV001470132]	likely benign	16	69692366	69692366	Human	1	name
127336972	CV1125542	single nucleotide variant	NM_138713.4(NFAT5):c.2958A>G (p.Thr986=)	Immunodeficiency [RCV001475326]	likely benign	16	69692783	69692783	Human	1	name
127326304	CV1146436	single nucleotide variant	NM_138713.4(NFAT5):c.1206C>T (p.Cys402=)	Immunodeficiency [RCV001506246]\|not provided [RCV003426164]	likely benign	16	69659736	69659736	Human	1	name
127320226	CV1146437	single nucleotide variant	NM_138713.4(NFAT5):c.1569T>C (p.Ile523=)	Immunodeficiency [RCV001504328]	likely benign	16	69677214	69677214	Human	1	name
127310656	CV1146438	single nucleotide variant	NM_138713.4(NFAT5):c.1653T>A (p.Ser551=)	Immunodeficiency [RCV001501415]	likely benign	16	69677298	69677298	Human	1	name
127331836	CV1146439	single nucleotide variant	NM_138713.4(NFAT5):c.1959A>G (p.Leu653=)	Immunodeficiency [RCV001489086]	likely benign	16	69691784	69691784	Human	1	name
127307435	CV1146440	single nucleotide variant	NM_138713.4(NFAT5):c.2181A>G (p.Thr727=)	Immunodeficiency [RCV001480310]	likely benign	16	69692006	69692006	Human	1	name
127303254	CV1146441	single nucleotide variant	NM_138713.4(NFAT5):c.2274A>G (p.Gln758=)	Immunodeficiency [RCV001499350]	likely benign	16	69692099	69692099	Human	1	name
127330105	CV1146442	single nucleotide variant	NM_138713.4(NFAT5):c.2280G>A (p.Gln760=)	Immunodeficiency [RCV001487867]	likely benign	16	69692105	69692105	Human	1	name
127293457	CV1146443	single nucleotide variant	NM_138713.4(NFAT5):c.2601A>G (p.Thr867=)	Immunodeficiency [RCV001496789]	likely benign	16	69692426	69692426	Human	1	name
150332853	CV1164491	single nucleotide variant	NM_138713.4(NFAT5):c.151A>G (p.Lys51Glu)	not provided [RCV001528516]	uncertain significance	16	69626426	69626426	Human		name
151886127	CV1414650	single nucleotide variant	NM_138713.4(NFAT5):c.2085T>C (p.Thr695=)	Immunodeficiency [RCV001887495]	likely benign	16	69691910	69691910	Human	1	name
152131932	CV1521839	single nucleotide variant	NM_138713.4(NFAT5):c.1434A>G (p.Glu478=)	Immunodeficiency [RCV002199440]	likely benign	16	69670041	69670041	Human	1	name
152158573	CV1529066	single nucleotide variant	NM_138713.4(NFAT5):c.2916G>A (p.Leu972=)	Immunodeficiency [RCV002159219]	likely benign	16	69692741	69692741	Human	1	name
152052897	CV1531866	single nucleotide variant	NM_138713.4(NFAT5):c.1827C>T (p.Ala609=)	Immunodeficiency [RCV002072602]	likely benign	16	69690992	69690992	Human	1	name
152119904	CV1547180	single nucleotide variant	NM_138713.4(NFAT5):c.1524A>G (p.Ser508=)	Immunodeficiency [RCV002154122]	likely benign	16	69670255	69670255	Human	1	name
152139434	CV1549684	single nucleotide variant	NM_138713.4(NFAT5):c.2118T>A (p.Thr706=)	Immunodeficiency [RCV002156568]	likely benign	16	69691943	69691943	Human	1	name
152158720	CV1553245	single nucleotide variant	NM_138713.4(NFAT5):c.2970G>A (p.Gln990=)	Immunodeficiency [RCV002180539]	likely benign	16	69692795	69692795	Human	1	name
152151768	CV1559741	single nucleotide variant	NM_138713.4(NFAT5):c.1998A>G (p.Ser666=)	Immunodeficiency [RCV002220927]	likely benign	16	69691823	69691823	Human	1	name
152124072	CV1562998	single nucleotide variant	NM_138713.4(NFAT5):c.2967A>G (p.Thr989=)	Immunodeficiency [RCV002118212]	likely benign	16	69692792	69692792	Human	1	name
152156303	CV1573033	single nucleotide variant	NM_138713.4(NFAT5):c.2106A>G (p.Ser702=)	Immunodeficiency [RCV002180185]	likely benign	16	69691931	69691931	Human	1	name
152128423	CV1596547	single nucleotide variant	NM_138713.4(NFAT5):c.1632A>G (p.Val544=)	Immunodeficiency [RCV002118756]	likely benign	16	69677277	69677277	Human	1	name
152128395	CV1599732	single nucleotide variant	NM_138713.4(NFAT5):c.1911C>T (p.Ser637=)	Immunodeficiency [RCV002136620]	likely benign	16	69691076	69691076	Human	1	name
152063885	CV1606550	single nucleotide variant	NM_138713.4(NFAT5):c.1443G>C (p.Val481=)	Immunodeficiency [RCV002209046]	likely benign	16	69670050	69670050	Human	1	name
152100019	CV1610761	single nucleotide variant	NM_138713.4(NFAT5):c.2680T>C (p.Leu894=)	Immunodeficiency [RCV002133154]	benign	16	69692505	69692505	Human	1	name
152122464	CV1613401	single nucleotide variant	NM_138713.4(NFAT5):c.1389A>G (p.Pro463=)	Immunodeficiency [RCV002154436]	likely benign	16	69669996	69669996	Human	1	name
152048667	CV1615716	single nucleotide variant	NM_138713.4(NFAT5):c.2373T>C (p.Asn791=)	Immunodeficiency [RCV002166580]	likely benign	16	69692198	69692198	Human	1	name
152125370	CV1630178	single nucleotide variant	NM_138713.4(NFAT5):c.2007A>G (p.Ser669=)	Immunodeficiency [RCV002154797]	likely benign	16	69691832	69691832	Human	1	name
152175388	CV1663542	single nucleotide variant	NM_138713.4(NFAT5):c.1068G>A (p.Val356=)	Immunodeficiency [RCV002163520]	likely benign	16	69655671	69655671	Human	1	name
152078011	CV1665983	single nucleotide variant	NM_138713.4(NFAT5):c.2343A>G (p.Pro781=)	Immunodeficiency [RCV002092484]	likely benign	16	69692168	69692168	Human	1	name
156411563	CV1889418	single nucleotide variant	NM_138713.4(NFAT5):c.2451A>G (p.Gln817=)	Immunodeficiency [RCV003072531]	likely benign	16	69692276	69692276	Human	1	name
156379194	CV1903281	single nucleotide variant	NM_138713.4(NFAT5):c.1455C>G (p.Gly485=)	Immunodeficiency [RCV003093136]	likely benign	16	69670062	69670062	Human	1	name
156414017	CV1919475	single nucleotide variant	NM_138713.4(NFAT5):c.2304A>G (p.Ala768=)	Immunodeficiency [RCV002588356]	likely benign	16	69692129	69692129	Human	1	name
156350995	CV1926532	single nucleotide variant	NM_138713.4(NFAT5):c.1110A>C (p.Arg370=)	Immunodeficiency [RCV002650885]	likely benign	16	69655713	69655713	Human	1	name
156447405	CV1945359	single nucleotide variant	NM_138713.4(NFAT5):c.289G>A (p.Gly97Ser)	Immunodeficiency [RCV003118933]\|not specified [RCV004827951]	uncertain significance	16	69647063	69647063	Human	1	name
156446727	CV1948081	single nucleotide variant	NM_138713.4(NFAT5):c.1665A>G (p.Gln555=)	Immunodeficiency [RCV003118241]	likely benign	16	69677310	69677310	Human	1	name
156134785	CV1998813	single nucleotide variant	NM_138713.4(NFAT5):c.1782A>G (p.Lys594=)	Immunodeficiency [RCV002663351]	likely benign	16	69690947	69690947	Human	1	name
156234321	CV2021416	single nucleotide variant	NM_138713.4(NFAT5):c.2610A>G (p.Thr870=)	Immunodeficiency [RCV002745425]	likely benign	16	69692435	69692435	Human	1	name
156378487	CV2032630	single nucleotide variant	NM_138713.4(NFAT5):c.1611T>C (p.Pro537=)	Immunodeficiency [RCV002722122]	likely benign	16	69677256	69677256	Human	1	name
156067647	CV2065640	single nucleotide variant	NM_138713.4(NFAT5):c.1902A>G (p.Lys634=)	Immunodeficiency [RCV002846975]	likely benign	16	69691067	69691067	Human	1	name
156318097	CV2071181	single nucleotide variant	NM_138713.4(NFAT5):c.1233T>G (p.Ala411=)	Immunodeficiency [RCV002834525]	likely benign	16	69659763	69659763	Human	1	name
155958709	CV2078545	single nucleotide variant	NM_138713.4(NFAT5):c.1095C>T (p.Cys365=)	Immunodeficiency [RCV002880911]	likely benign	16	69655698	69655698	Human	1	name
156246876	CV2086246	single nucleotide variant	NM_138713.4(NFAT5):c.2169G>A (p.Leu723=)	Immunodeficiency [RCV002876800]	likely benign	16	69691994	69691994	Human	1	name
156073630	CV2086391	single nucleotide variant	NM_138713.4(NFAT5):c.2283G>A (p.Gln761=)	Immunodeficiency [RCV002847152]	likely benign	16	69692108	69692108	Human	1	name
155980037	CV2163008	single nucleotide variant	NM_138713.4(NFAT5):c.2853G>A (p.Gln951=)	Immunodeficiency [RCV003033837]	likely benign	16	69692678	69692678	Human	1	name
329846346	CV2524669	single nucleotide variant	NM_138713.4(NFAT5):c.221C>T (p.Ala74Val)	not provided [RCV003228152]	uncertain significance	16	69626496	69626496	Human		name
401896935	CV2785421	single nucleotide variant	NM_138713.4(NFAT5):c.284T>C (p.Met95Thr)	not specified [RCV004362964]	uncertain significance	16	69647058	69647058	Human		name
401907048	CV2795788	insertion	NM_138713.4(NFAT5):c.1505-16_1505-15insG	not specified [RCV003397140]	benign	16	69670220	69670221	Human		name
405052537	CV2891979	single nucleotide variant	NM_138713.4(NFAT5):c.1929A>G (p.Thr643=)	Immunodeficiency [RCV003592990]	likely benign	16	69691754	69691754	Human	1	name
405038158	CV2919129	single nucleotide variant	NM_138713.4(NFAT5):c.1413T>C (p.His471=)	Immunodeficiency [RCV003591386]	likely benign	16	69670020	69670020	Human	1	name
405143012	CV2969397	single nucleotide variant	NM_138713.4(NFAT5):c.1305T>A (p.Val435=)	Immunodeficiency [RCV003755446]	likely benign	16	69659835	69659835	Human	1	name
405142421	CV2976591	single nucleotide variant	NM_138713.4(NFAT5):c.2004A>G (p.Pro668=)	Immunodeficiency [RCV003755458]	likely benign	16	69691829	69691829	Human	1	name
405142562	CV2983919	single nucleotide variant	NM_138713.4(NFAT5):c.1140T>C (p.Ile380=)	Immunodeficiency [RCV003755474]	likely benign	16	69655743	69655743	Human	1	name
405153386	CV3073799	single nucleotide variant	NM_138713.4(NFAT5):c.2841G>A (p.Ser947=)	Immunodeficiency [RCV003756533]	likely benign	16	69692666	69692666	Human	1	name
405089909	CV3118446	single nucleotide variant	NM_138713.4(NFAT5):c.1527A>G (p.Glu509=)	Immunodeficiency [RCV003811088]	likely benign	16	69670258	69670258	Human	1	name
405180133	CV3147433	single nucleotide variant	NM_138713.4(NFAT5):c.1197G>C (p.Ala399=)	Immunodeficiency [RCV003842335]	uncertain significance	16	69659727	69659727	Human	1	name
405148902	CV3152410	single nucleotide variant	NM_138713.4(NFAT5):c.2562A>G (p.Gln854=)	Immunodeficiency [RCV003856189]	likely benign	16	69692387	69692387	Human	1	name
405219942	CV3154262	single nucleotide variant	NM_138713.4(NFAT5):c.1197G>A (p.Ala399=)	Immunodeficiency [RCV003846954]	uncertain significance	16	69659727	69659727	Human	1	name
405080267	CV3166765	single nucleotide variant	NM_138713.4(NFAT5):c.2697G>A (p.Gln899=)	Immunodeficiency [RCV003851539]	likely benign	16	69692522	69692522	Human	1	name
405263923	CV3189887	single nucleotide variant	NM_138713.4(NFAT5):c.1356T>C (p.Ser452=)	NFAT5-related disorder [RCV003896935]	likely benign	16	69659886	69659886	Human		name , trait , alternate_id
597640661	CV3562847	single nucleotide variant	NM_138713.4(NFAT5):c.101A>T (p.Asn34Ile)	not specified [RCV004832158]	uncertain significance	16	69568522	69568522	Human		name
597923430	CV3748379	single nucleotide variant	NM_138713.4(NFAT5):c.2484A>G (p.Ser828=)	Immunodeficiency [RCV005075025]	likely benign	16	69692309	69692309	Human	1	name
597847947	CV3776020	single nucleotide variant	NM_138713.4(NFAT5):c.2349A>C (p.Pro783=)	Immunodeficiency [RCV005123547]	likely benign	16	69692174	69692174	Human	1	name
597851884	CV3782597	single nucleotide variant	NM_138713.4(NFAT5):c.1614G>T (p.Val538=)	Immunodeficiency [RCV005126822]	uncertain significance	16	69677259	69677259	Human	1	name
597846232	CV3786766	single nucleotide variant	NM_138713.4(NFAT5):c.2355T>C (p.Ser785=)	Immunodeficiency [RCV005121857]	likely benign	16	69692180	69692180	Human	1	name
597848271	CV3786843	single nucleotide variant	NM_138713.4(NFAT5):c.2796G>A (p.Glu932=)	Immunodeficiency [RCV005123919]	likely benign	16	69692621	69692621	Human	1	name
597863538	CV3797236	single nucleotide variant	NM_138713.4(NFAT5):c.2124A>G (p.Pro708=)	Immunodeficiency [RCV005137923]	likely benign	16	69691949	69691949	Human	1	name
597883298	CV3807892	single nucleotide variant	NM_138713.4(NFAT5):c.2679G>C (p.Thr893=)	Immunodeficiency [RCV005158271]	likely benign	16	69692504	69692504	Human	1	name
597872050	CV3813856	single nucleotide variant	NM_138713.4(NFAT5):c.2262G>A (p.Glu754=)	Immunodeficiency [RCV005146924]	likely benign	16	69692087	69692087	Human	1	name
597906363	CV3845545	single nucleotide variant	NM_138713.4(NFAT5):c.2190G>A (p.Gln730=)	Immunodeficiency [RCV005181355]	likely benign	16	69692015	69692015	Human	1	name
597927410	CV3850905	single nucleotide variant	NM_138713.4(NFAT5):c.2982C>G (p.Thr994=)	Immunodeficiency [RCV005201889]	likely benign	16	69692807	69692807	Human	1	name
13494738	CV465930	single nucleotide variant	NM_138713.4(NFAT5):c.2079G>A (p.Leu693=)	Immunodeficiency [RCV000559134]\|NFAT5-related disorder [RCV003925586]	benign	16	69691904	69691904	Human	1	name , trait , alternate_id
13496242	CV466957	single nucleotide variant	NM_138713.4(NFAT5):c.2526G>A (p.Glu842=)	Immunodeficiency [RCV000537714]\|NFAT5-related disorder [RCV003925587]\|not provided [RCV003424089]	benign	16	69692351	69692351	Human	1	name , trait , alternate_id
13613845	CV530176	single nucleotide variant	NM_138713.4(NFAT5):c.2121T>C (p.Phe707=)	Immunodeficiency [RCV000631397]\|NFAT5-related disorder [RCV003935755]\|not provided [RCV003884673]	benign\|likely benign	16	69691946	69691946	Human	1	name , trait , alternate_id
13613774	CV530502	single nucleotide variant	NM_138713.4(NFAT5):c.1839A>G (p.Pro613=)	Immunodeficiency [RCV000631393]	benign	16	69691004	69691004	Human	1	name
15101533	CV726764	single nucleotide variant	NM_138713.4(NFAT5):c.1989C>G (p.Gly663=)	Immunodeficiency [RCV000892302]\|NFAT5-related disorder [RCV003910615]	likely benign	16	69691814	69691814	Human	1	name , trait , alternate_id
15179933	CV740322	single nucleotide variant	NM_138713.4(NFAT5):c.2826A>G (p.Gly942=)	Immunodeficiency [RCV000907233]\|NFAT5-related disorder [RCV003950676]	likely benign	16	69692651	69692651	Human	1	name , trait , alternate_id
15156076	CV740323	single nucleotide variant	NM_138713.4(NFAT5):c.2979A>C (p.Ala993=)	Immunodeficiency [RCV000902261]	benign	16	69692804	69692804	Human	1	name
15108542	CV755347	single nucleotide variant	NM_138713.4(NFAT5):c.1053C>T (p.Asn351=)	Immunodeficiency [RCV000916162]	likely benign	16	69655656	69655656	Human	1	name
15162331	CV755348	single nucleotide variant	NM_138713.4(NFAT5):c.1216T>C (p.Leu406=)	Immunodeficiency [RCV001471983]	likely benign	16	69659746	69659746	Human	1	name
15130863	CV755349	single nucleotide variant	NM_138713.4(NFAT5):c.1239C>G (p.Val413=)	Immunodeficiency [RCV001431889]	likely benign	16	69659769	69659769	Human	1	name
15126755	CV755350	single nucleotide variant	NM_138713.4(NFAT5):c.1359A>G (p.Pro453=)	Immunodeficiency [RCV001425655]	likely benign	16	69659889	69659889	Human	1	name
15127257	CV771035	single nucleotide variant	NM_138713.4(NFAT5):c.1363T>C (p.Leu455=)	Immunodeficiency [RCV000941515]	benign	16	69659893	69659893	Human	1	name
15106289	CV771036	single nucleotide variant	NM_138713.4(NFAT5):c.1545A>G (p.Glu515=)	Immunodeficiency [RCV000937752]	likely benign	16	69670276	69670276	Human	1	name
15147863	CV771037	single nucleotide variant	NM_138713.4(NFAT5):c.1842C>T (p.Leu614=)	Immunodeficiency [RCV001472884]	likely benign	16	69691007	69691007	Human	1	name
15176691	CV771038	single nucleotide variant	NM_138713.4(NFAT5):c.2679G>A (p.Thr893=)	Immunodeficiency [RCV001423400]	likely benign	16	69692504	69692504	Human	1	name
15105723	CV785365	single nucleotide variant	NM_138713.4(NFAT5):c.2613C>T (p.Val871=)	Immunodeficiency [RCV001440459]	likely benign	16	69692438	69692438	Human	1	name
26914383	CV844194	single nucleotide variant	NM_138713.4(NFAT5):c.283A>G (p.Met95Val)	Immunodeficiency [RCV001040627]	uncertain significance	16	69647057	69647057	Human	1	name
26901554	CV844201	single nucleotide variant	NM_138713.4(NFAT5):c.2253A>G (p.Gln751=)	Immunodeficiency [RCV001049915]	likely benign\|uncertain significance	16	69692078	69692078	Human	1	name
26899182	CV844204	single nucleotide variant	NM_138713.4(NFAT5):c.2691A>G (p.Gln897=)	Immunodeficiency [RCV001034921]	likely benign\|uncertain significance	16	69692516	69692516	Human	1	name
34891155	CV904621	single nucleotide variant	NM_138713.4(NFAT5):c.2892G>A (p.Glu964=)	Immunodeficiency [RCV001221875]\|NFAT5-related disorder [RCV003945902]\|not provided [RCV001171917]	likely benign\|uncertain significance	16	69692717	69692717	Human	1	name , trait , alternate_id
8635875	CV91098	single nucleotide variant	NM_138714.3(NFAT5):c.2337C>T (p.Thr779=)	Malignant melanoma [RCV000071196]	not provided	16	69692444	69692444	Human		name
126750446	CV1012336	single nucleotide variant	NM_138713.4(NFAT5):c.361A>T (p.Met121Leu)	Immunodeficiency [RCV001326724]	uncertain significance	16	69647135	69647135	Human	1	name
126749789	CV1012337	single nucleotide variant	NM_138713.4(NFAT5):c.856A>G (p.Met286Val)	Immunodeficiency [RCV001326604]	uncertain significance	16	69653279	69653279	Human	1	name
126727645	CV1032823	single nucleotide variant	NM_138713.4(NFAT5):c.346A>G (p.Thr116Ala)	Immunodeficiency [RCV001348743]	uncertain significance	16	69647120	69647120	Human	1	name
126771349	CV1032824	single nucleotide variant	NM_138713.4(NFAT5):c.372G>C (p.Glu124Asp)	Immunodeficiency [RCV001344991]	uncertain significance	16	69647146	69647146	Human	1	name
126754294	CV1032825	single nucleotide variant	NM_138713.4(NFAT5):c.424T>A (p.Leu142Ile)	Immunodeficiency [RCV001338782]	uncertain significance	16	69647198	69647198	Human	1	name
126774667	CV1032826	single nucleotide variant	NM_138713.4(NFAT5):c.809A>G (p.Asn270Ser)	Immunodeficiency [RCV001347493]	uncertain significance	16	69647583	69647583	Human	1	name
126918548	CV1049806	single nucleotide variant	NM_138713.4(NFAT5):c.461C>T (p.Pro154Leu)	Immunodeficiency [RCV001361789]	uncertain significance	16	69647235	69647235	Human	1	name
126923001	CV1049807	single nucleotide variant	NM_138713.4(NFAT5):c.659G>A (p.Arg220Gln)	Immunodeficiency [RCV001365344]	uncertain significance	16	69647433	69647433	Human	1	name
127252414	CV1082347	single nucleotide variant	NM_138713.4(NFAT5):c.3561A>G (p.Pro1187=)	Immunodeficiency [RCV001418073]	likely benign	16	69693386	69693386	Human	1	name
127230136	CV1082348	single nucleotide variant	NM_138713.4(NFAT5):c.4176C>T (p.Leu1392=)	Immunodeficiency [RCV001394587]	likely benign	16	69694001	69694001	Human	1	name
127280729	CV1082349	single nucleotide variant	NM_138713.4(NFAT5):c.4263C>T (p.Asn1421=)	Immunodeficiency [RCV001409992]	likely benign	16	69694088	69694088	Human	1	name
127309906	CV1125543	single nucleotide variant	NM_138713.4(NFAT5):c.3042A>G (p.Gln1014=)	Immunodeficiency [RCV001456479]	likely benign	16	69692867	69692867	Human	1	name
127329086	CV1125544	single nucleotide variant	NM_138713.4(NFAT5):c.3057G>A (p.Gln1019=)	Immunodeficiency [RCV001469975]	likely benign	16	69692882	69692882	Human	1	name
127289304	CV1125545	single nucleotide variant	NM_138713.4(NFAT5):c.3849A>G (p.Gln1283=)	Immunodeficiency [RCV001450858]	likely benign	16	69693674	69693674	Human	1	name
127312103	CV1125546	single nucleotide variant	NM_138713.4(NFAT5):c.3894G>T (p.Ala1298=)	Immunodeficiency [RCV001464292]	likely benign	16	69693719	69693719	Human	1	name
127298607	CV1146445	single nucleotide variant	NM_138713.4(NFAT5):c.3795C>A (p.Ser1265=)	Immunodeficiency [RCV001498111]	likely benign	16	69693620	69693620	Human	1	name
127310255	CV1157807	insertion	NM_138713.4(NFAT5):c.1505-16_1505-15insGT	Immunodeficiency [RCV001518206]\|not specified [RCV003394099]	benign	16	69670219	69670220	Human	1	name
151786421	CV1348915	single nucleotide variant	NM_138713.4(NFAT5):c.755A>T (p.His252Leu)	Immunodeficiency [RCV001897738]	uncertain significance	16	69647529	69647529	Human	1	name
151794492	CV1354075	single nucleotide variant	NM_138713.4(NFAT5):c.499G>A (p.Glu167Lys)	Immunodeficiency [RCV001990380]	uncertain significance	16	69647273	69647273	Human	1	name
151736981	CV1361865	single nucleotide variant	NM_138713.4(NFAT5):c.3321A>G (p.Gln1107=)	Immunodeficiency [RCV001967737]	likely benign	16	69693146	69693146	Human	1	name
151879584	CV1370325	single nucleotide variant	NM_138713.4(NFAT5):c.326C>T (p.Thr109Ile)	Immunodeficiency [RCV001961462]	uncertain significance	16	69647100	69647100	Human	1	name
151854029	CV1390723	single nucleotide variant	NM_138713.4(NFAT5):c.610A>G (p.Met204Val)	Immunodeficiency [RCV001958370]\|not specified [RCV004043742]	uncertain significance	16	69647384	69647384	Human	1	name
151832741	CV1447361	single nucleotide variant	NM_138713.4(NFAT5):c.542G>A (p.Gly181Glu)	Immunodeficiency [RCV001880464]	uncertain significance	16	69647316	69647316	Human	1	name
151739109	CV1455154	single nucleotide variant	NM_138713.4(NFAT5):c.535G>C (p.Asp179His)	Immunodeficiency [RCV002005637]	uncertain significance	16	69647309	69647309	Human	1	name
151725600	CV1455719	single nucleotide variant	NM_138713.4(NFAT5):c.484A>G (p.Ile162Val)	Immunodeficiency [RCV002020738]	uncertain significance	16	69647258	69647258	Human	1	name
151875924	CV1458536	single nucleotide variant	NM_138713.4(NFAT5):c.550T>G (p.Leu184Val)	Immunodeficiency [RCV001998934]	uncertain significance	16	69647324	69647324	Human	1	name
151724432	CV1514930	single nucleotide variant	NM_138713.4(NFAT5):c.622T>G (p.Ser208Ala)	Immunodeficiency [RCV001983505]	uncertain significance	16	69647396	69647396	Human	1	name
152071120	CV1549034	single nucleotide variant	NM_138713.4(NFAT5):c.3186T>C (p.Gly1062=)	Immunodeficiency [RCV002091601]	likely benign	16	69693011	69693011	Human	1	name
152144337	CV1576391	single nucleotide variant	NM_138713.4(NFAT5):c.3894G>A (p.Ala1298=)	Immunodeficiency [RCV002101226]	likely benign	16	69693719	69693719	Human	1	name
152159353	CV1588001	single nucleotide variant	NM_138713.4(NFAT5):c.3666G>A (p.Pro1222=)	Immunodeficiency [RCV002180650]	likely benign	16	69693491	69693491	Human	1	name
152107484	CV1605280	single nucleotide variant	NM_138713.4(NFAT5):c.3117T>A (p.Val1039=)	Immunodeficiency [RCV002196344]	likely benign	16	69692942	69692942	Human	1	name
152100464	CV1606724	single nucleotide variant	NM_138713.4(NFAT5):c.4212C>T (p.Thr1404=)	Immunodeficiency [RCV002195481]	likely benign	16	69694037	69694037	Human	1	name
152075137	CV1620525	single nucleotide variant	NM_138713.4(NFAT5):c.4086G>A (p.Ser1362=)	Immunodeficiency [RCV002111992]	likely benign	16	69693911	69693911	Human	1	name
152085409	CV1620996	single nucleotide variant	NM_138713.4(NFAT5):c.4113T>C (p.His1371=)	Immunodeficiency [RCV002193567]	likely benign	16	69693938	69693938	Human	1	name
152089483	CV1654678	single nucleotide variant	NM_138713.4(NFAT5):c.3378C>T (p.Ser1126=)	Immunodeficiency [RCV002212525]	likely benign	16	69693203	69693203	Human	1	name
152099994	CV1655261	single nucleotide variant	NM_138713.4(NFAT5):c.3786C>T (p.Asn1262=)	Immunodeficiency [RCV002115202]	likely benign	16	69693611	69693611	Human	1	name
152153839	CV1657858	single nucleotide variant	NM_138713.4(NFAT5):c.3267T>G (p.Leu1089=)	Immunodeficiency [RCV002179860]	likely benign	16	69693092	69693092	Human	1	name
152122789	CV1664272	single nucleotide variant	NM_138713.4(NFAT5):c.3843A>G (p.Gln1281=)	Immunodeficiency [RCV002154474]	likely benign	16	69693668	69693668	Human	1	name
155686351	CV1771200	single nucleotide variant	NM_138713.4(NFAT5):c.796T>C (p.Ser266Pro)	Immunodeficiency [RCV002299006]	uncertain significance	16	69647570	69647570	Human	1	name
155700101	CV1776093	single nucleotide variant	NM_138713.4(NFAT5):c.844A>G (p.Lys282Glu)	Immunodeficiency [RCV002299914]	uncertain significance	16	69653267	69653267	Human	1	name
156407827	CV1873035	single nucleotide variant	NM_138713.4(NFAT5):c.4116C>T (p.Ser1372=)	Immunodeficiency [RCV003071030]	likely benign	16	69693941	69693941	Human	1	name
155958908	CV1873587	single nucleotide variant	NM_138713.4(NFAT5):c.3336T>C (p.His1112=)	Immunodeficiency [RCV003074582]	likely benign	16	69693161	69693161	Human	1	name
155994703	CV1879405	single nucleotide variant	NM_138713.4(NFAT5):c.3396T>C (p.Pro1132=)	Immunodeficiency [RCV003076286]	likely benign	16	69693221	69693221	Human	1	name
156388271	CV1888286	single nucleotide variant	NM_138713.4(NFAT5):c.4434C>T (p.Thr1478=)	Immunodeficiency [RCV003067748]	likely benign	16	69695155	69695155	Human	1	name
156195405	CV1900669	single nucleotide variant	NM_138713.4(NFAT5):c.3207G>A (p.Glu1069=)	Immunodeficiency [RCV002574551]	benign	16	69693032	69693032	Human	1	name
156400947	CV1907910	single nucleotide variant	NM_138713.4(NFAT5):c.3609A>G (p.Gln1203=)	Immunodeficiency [RCV002584869]	likely benign\|uncertain significance	16	69693434	69693434	Human	1	name
156028365	CV1914101	single nucleotide variant	NM_138713.4(NFAT5):c.4005A>G (p.Pro1335=)	Immunodeficiency [RCV002619734]	likely benign	16	69693830	69693830	Human	1	name
156370904	CV1920227	single nucleotide variant	NM_138713.4(NFAT5):c.4554A>G (p.Pro1518=)	Immunodeficiency [RCV002603166]	likely benign	16	69695275	69695275	Human	1	name
156409873	CV1922932	single nucleotide variant	NM_138713.4(NFAT5):c.4410A>G (p.Gln1470=)	Immunodeficiency [RCV002607686]	likely benign	16	69694235	69694235	Human	1	name
156444156	CV1937680	single nucleotide variant	NM_138713.4(NFAT5):c.457A>G (p.Thr153Ala)	Immunodeficiency [RCV003115077]	uncertain significance	16	69647231	69647231	Human	1	name
156449432	CV1941366	single nucleotide variant	NM_138713.4(NFAT5):c.3291C>T (p.Ala1097=)	Immunodeficiency [RCV003121554]	likely benign	16	69693116	69693116	Human	1	name
156155214	CV1957651	single nucleotide variant	NM_138713.4(NFAT5):c.3663C>T (p.Pro1221=)	Immunodeficiency [RCV002573033]	likely benign	16	69693488	69693488	Human	1	name
156108592	CV1963507	single nucleotide variant	NM_138713.4(NFAT5):c.3264A>G (p.Gln1088=)	Immunodeficiency [RCV002571113]	likely benign	16	69693089	69693089	Human	1	name
156326871	CV1980670	single nucleotide variant	NM_138713.4(NFAT5):c.3018A>G (p.Gly1006=)	Immunodeficiency [RCV002630702]	likely benign	16	69692843	69692843	Human	1	name
155946503	CV1999616	single nucleotide variant	NM_138713.4(NFAT5):c.325A>G (p.Thr109Ala)	Immunodeficiency [RCV002685772]\|not specified [RCV004066838]	uncertain significance	16	69647099	69647099	Human	1	name
156112496	CV2038922	single nucleotide variant	NM_138713.4(NFAT5):c.3126T>C (p.Phe1042=)	Immunodeficiency [RCV002785454]	likely benign	16	69692951	69692951	Human	1	name
156035702	CV2047570	single nucleotide variant	NM_138713.4(NFAT5):c.487T>C (p.Ser163Pro)	Immunodeficiency [RCV002781296]	uncertain significance	16	69647261	69647261	Human	1	name
155991950	CV2049727	single nucleotide variant	NM_138713.4(NFAT5):c.3697C>T (p.Leu1233=)	Immunodeficiency [RCV002819245]	likely benign	16	69693522	69693522	Human	1	name
156295124	CV2065268	single nucleotide variant	NM_138713.4(NFAT5):c.3381T>C (p.Ser1127=)	Immunodeficiency [RCV002856908]	likely benign	16	69693206	69693206	Human	1	name
156226451	CV2115287	single nucleotide variant	NM_138713.4(NFAT5):c.491C>T (p.Pro164Leu)	Immunodeficiency [RCV002918769]	uncertain significance	16	69647265	69647265	Human	1	name
156361257	CV2119489	single nucleotide variant	NM_138713.4(NFAT5):c.4371A>C (p.Ser1457=)	Immunodeficiency [RCV002966996]	likely benign	16	69694196	69694196	Human	1	name
156248384	CV2119780	single nucleotide variant	NM_138713.4(NFAT5):c.4587C>T (p.Ile1529=)	Immunodeficiency [RCV002959117]	benign	16	69695308	69695308	Human	1	name
155945566	CV2130202	single nucleotide variant	NM_138713.4(NFAT5):c.349G>A (p.Asp117Asn)	Immunodeficiency [RCV002971560]	uncertain significance	16	69647123	69647123	Human	1	name
156210753	CV2131610	single nucleotide variant	NM_138713.4(NFAT5):c.4023G>A (p.Gln1341=)	Immunodeficiency [RCV002985579]	likely benign	16	69693848	69693848	Human	1	name
156141727	CV2137985	single nucleotide variant	NM_138713.4(NFAT5):c.3903G>A (p.Lys1301=)	Immunodeficiency [RCV002982337]	likely benign	16	69693728	69693728	Human	1	name
155914884	CV2145375	single nucleotide variant	NM_138713.4(NFAT5):c.557C>A (p.Ser186Tyr)	Immunodeficiency [RCV002991592]	uncertain significance	16	69647331	69647331	Human	1	name
156125179	CV2147477	single nucleotide variant	NM_138713.4(NFAT5):c.428C>T (p.Thr143Ile)	Immunodeficiency [RCV003021956]	uncertain significance	16	69647202	69647202	Human	1	name
156352483	CV2190456	single nucleotide variant	NM_138713.4(NFAT5):c.4476T>C (p.Ser1492=)	Immunodeficiency [RCV003048439]	likely benign	16	69695197	69695197	Human	1	name
156063752	CV2272381	single nucleotide variant	NM_138713.4(NFAT5):c.402C>G (p.Asn134Lys)	not specified [RCV004133306]	uncertain significance	16	69647176	69647176	Human		name
401866165	CV2775442	single nucleotide variant	NM_138713.4(NFAT5):c.335C>G (p.Ser112Cys)	not specified [RCV004348837]	uncertain significance	16	69647109	69647109	Human		name
401907212	CV2800149	single nucleotide variant	NM_138713.4(NFAT5):c.426A>C (p.Leu142Phe)	NFAT5-related disorder [RCV003397284]	uncertain significance	16	69647200	69647200	Human		name , trait , alternate_id
404983695	CV2849319	insertion	NM_138713.4(NFAT5):c.1505-16_1505-15insGA	not specified [RCV003489191]	benign	16	69670220	69670221	Human		name
404983862	CV2849331	insertion	NM_138713.4(NFAT5):c.1505-16_1505-15insGG	not specified [RCV003489203]	benign	16	69670220	69670221	Human		name
405046440	CV2854566	single nucleotide variant	NM_138713.4(NFAT5):c.964T>C (p.Ser322Pro)	Immunodeficiency [RCV003592452]	uncertain significance	16	69653387	69653387	Human	1	name
405046625	CV2861577	single nucleotide variant	NM_138713.4(NFAT5):c.341C>T (p.Ser114Leu)	Immunodeficiency [RCV003592467]	uncertain significance	16	69647115	69647115	Human	1	name
405046541	CV2864854	single nucleotide variant	NM_138713.4(NFAT5):c.4050A>T (p.Thr1350=)	Immunodeficiency [RCV003592459]	likely benign	16	69693875	69693875	Human	1	name
405048741	CV2867475	single nucleotide variant	NM_138713.4(NFAT5):c.473C>T (p.Thr158Ile)	Immunodeficiency [RCV003592649]	uncertain significance	16	69647247	69647247	Human	1	name
405053904	CV2889332	single nucleotide variant	NM_138713.4(NFAT5):c.431G>A (p.Ser144Asn)	Immunodeficiency [RCV003593115]	uncertain significance	16	69647205	69647205	Human	1	name
405201407	CV2895652	single nucleotide variant	NM_138713.4(NFAT5):c.3525A>G (p.Gln1175=)	Immunodeficiency [RCV003591176]	likely benign	16	69693350	69693350	Human	1	name
405040200	CV2903612	single nucleotide variant	NM_138713.4(NFAT5):c.4555C>T (p.Leu1519=)	Immunodeficiency [RCV003591301]	likely benign	16	69695276	69695276	Human	1	name
405037826	CV2904308	single nucleotide variant	NM_138713.4(NFAT5):c.3261C>T (p.Ala1087=)	Immunodeficiency [RCV003591352]	likely benign	16	69693086	69693086	Human	1	name
405040066	CV2908955	single nucleotide variant	NM_138713.4(NFAT5):c.874C>T (p.Pro292Ser)	Immunodeficiency [RCV003591416]	uncertain significance	16	69653297	69653297	Human	1	name
405039420	CV2917227	single nucleotide variant	NM_138713.4(NFAT5):c.437C>T (p.Thr146Ile)	Immunodeficiency [RCV003591512]	uncertain significance	16	69647211	69647211	Human	1	name
405138772	CV2936485	single nucleotide variant	NM_138713.4(NFAT5):c.878T>C (p.Val293Ala)	Immunodeficiency [RCV003755055]	uncertain significance	16	69653301	69653301	Human	1	name
405139915	CV2942499	single nucleotide variant	NM_138713.4(NFAT5):c.4101C>G (p.Thr1367=)	Immunodeficiency [RCV003755175]	likely benign	16	69693926	69693926	Human	1	name
405141867	CV2975130	single nucleotide variant	NM_138713.4(NFAT5):c.4446T>C (p.Ala1482=)	Immunodeficiency [RCV003755391]	likely benign	16	69695167	69695167	Human	1	name
405144436	CV2996009	single nucleotide variant	NM_138713.4(NFAT5):c.3741A>T (p.Gly1247=)	Immunodeficiency [RCV003755668]	likely benign	16	69693566	69693566	Human	1	name
405144607	CV2999951	single nucleotide variant	NM_138713.4(NFAT5):c.3483C>G (p.Ser1161=)	Immunodeficiency [RCV003755683]	likely benign	16	69693308	69693308	Human	1	name
405144942	CV3003901	single nucleotide variant	NM_138713.4(NFAT5):c.848A>G (p.Lys283Arg)	Immunodeficiency [RCV003755720]	uncertain significance	16	69653271	69653271	Human	1	name
405147729	CV3020754	single nucleotide variant	NM_138713.4(NFAT5):c.4257T>C (p.Pro1419=)	Immunodeficiency [RCV003755988]	likely benign	16	69694082	69694082	Human	1	name
405148536	CV3033534	single nucleotide variant	NM_138713.4(NFAT5):c.3990A>G (p.Gln1330=)	Immunodeficiency [RCV003756069]	likely benign	16	69693815	69693815	Human	1	name
405148717	CV3036598	single nucleotide variant	NM_138713.4(NFAT5):c.3570A>G (p.Ser1190=)	Immunodeficiency [RCV003756084]	likely benign	16	69693395	69693395	Human	1	name
405149725	CV3039957	single nucleotide variant	NM_138713.4(NFAT5):c.4191A>C (p.Ala1397=)	Immunodeficiency [RCV003756110]	likely benign	16	69694016	69694016	Human	1	name
405149939	CV3048302	single nucleotide variant	NM_138713.4(NFAT5):c.4497C>T (p.Asn1499=)	Immunodeficiency [RCV003756234]	likely benign	16	69695218	69695218	Human	1	name
405150692	CV3052804	single nucleotide variant	NM_138713.4(NFAT5):c.3546G>A (p.Pro1182=)	Immunodeficiency [RCV003756303]	likely benign	16	69693371	69693371	Human	1	name
405149226	CV3053365	single nucleotide variant	NM_138713.4(NFAT5):c.818T>G (p.Leu273Trp)	Immunodeficiency [RCV003756159]	uncertain significance	16	69653241	69653241	Human	1	name
405151652	CV3064837	single nucleotide variant	NM_138713.4(NFAT5):c.3678A>G (p.Leu1226=)	Immunodeficiency [RCV003756387]	likely benign	16	69693503	69693503	Human	1	name
405153598	CV3079668	single nucleotide variant	NM_138713.4(NFAT5):c.4089A>G (p.Glu1363=)	Immunodeficiency [RCV003756554]	likely benign	16	69693914	69693914	Human	1	name
405018914	CV3129090	single nucleotide variant	NM_138713.4(NFAT5):c.3669G>A (p.Gln1223=)	Immunodeficiency [RCV003829653]	likely benign	16	69693494	69693494	Human	1	name
405120786	CV3131519	single nucleotide variant	NM_138713.4(NFAT5):c.3666G>T (p.Pro1222=)	Immunodeficiency [RCV003837383]	likely benign	16	69693491	69693491	Human	1	name
404991745	CV3132252	single nucleotide variant	NM_138713.4(NFAT5):c.3705C>T (p.Ser1235=)	Immunodeficiency [RCV003827190]	likely benign	16	69693530	69693530	Human	1	name
405698984	CV3350708	single nucleotide variant	NM_138713.4(NFAT5):c.998C>T (p.Thr333Ile)	not specified [RCV004492109]	uncertain significance	16	69653421	69653421	Human		name
407526697	CV3451172	single nucleotide variant	NM_138713.4(NFAT5):c.450T>G (p.His150Gln)	not specified [RCV004654910]	uncertain significance	16	69647224	69647224	Human		name
407489960	CV3451173	single nucleotide variant	NM_138713.4(NFAT5):c.452C>A (p.Pro151Gln)	not specified [RCV004641577]	uncertain significance	16	69647226	69647226	Human		name
597640603	CV3562838	single nucleotide variant	NM_138713.4(NFAT5):c.323C>T (p.Pro108Leu)	not specified [RCV004832149]	uncertain significance	16	69647097	69647097	Human		name
597923942	CV3748434	single nucleotide variant	NM_138713.4(NFAT5):c.3750C>T (p.Phe1250=)	Immunodeficiency [RCV005075081]	likely benign	16	69693575	69693575	Human	1	name
597910645	CV3749650	single nucleotide variant	NM_138713.4(NFAT5):c.364C>A (p.Gln122Lys)	Immunodeficiency [RCV005073498]	uncertain significance	16	69647138	69647138	Human	1	name
597938716	CV3759909	single nucleotide variant	NM_138713.4(NFAT5):c.403A>G (p.Arg135Gly)	Immunodeficiency [RCV005076831]	uncertain significance	16	69647177	69647177	Human	1	name
597844826	CV3771730	single nucleotide variant	NM_138713.4(NFAT5):c.3651A>G (p.Glu1217=)	Immunodeficiency [RCV005120255]	likely benign	16	69693476	69693476	Human	1	name
597842992	CV3771999	single nucleotide variant	NM_138713.4(NFAT5):c.4407T>A (p.Ile1469=)	Immunodeficiency [RCV005118254]	likely benign	16	69694232	69694232	Human	1	name
597849933	CV3787618	single nucleotide variant	NM_138713.4(NFAT5):c.320G>A (p.Ser107Asn)	Immunodeficiency [RCV005125184]	uncertain significance	16	69647094	69647094	Human	1	name
597866478	CV3791150	single nucleotide variant	NM_138713.4(NFAT5):c.3048A>G (p.Lys1016=)	Immunodeficiency [RCV005141182]	likely benign	16	69692873	69692873	Human	1	name
597880929	CV3808445	single nucleotide variant	NM_138713.4(NFAT5):c.3852G>A (p.Gln1284=)	Immunodeficiency [RCV005155959]	likely benign	16	69693677	69693677	Human	1	name
597883815	CV3818810	single nucleotide variant	NM_138713.4(NFAT5):c.4092A>G (p.Ser1364=)	Immunodeficiency [RCV005158816]	likely benign	16	69693917	69693917	Human	1	name
597899917	CV3822426	single nucleotide variant	NM_138713.4(NFAT5):c.4017G>A (p.Glu1339=)	Immunodeficiency [RCV005174724]	likely benign	16	69693842	69693842	Human	1	name
597890315	CV3824327	single nucleotide variant	NM_138713.4(NFAT5):c.4032A>G (p.Gln1344=)	Immunodeficiency [RCV005165550]	likely benign	16	69693857	69693857	Human	1	name
597881933	CV3826937	single nucleotide variant	NM_138713.4(NFAT5):c.3006A>G (p.Thr1002=)	Immunodeficiency [RCV005156950]	likely benign	16	69692831	69692831	Human	1	name
597916645	CV3838122	single nucleotide variant	NM_138713.4(NFAT5):c.3753G>A (p.Gln1251=)	Immunodeficiency [RCV005191497]	likely benign	16	69693578	69693578	Human	1	name
597901293	CV3838645	single nucleotide variant	NM_138713.4(NFAT5):c.3615A>C (p.Pro1205=)	Immunodeficiency [RCV005175941]	likely benign	16	69693440	69693440	Human	1	name
597915342	CV3843361	single nucleotide variant	NM_138713.4(NFAT5):c.3441T>C (p.Ser1147=)	Immunodeficiency [RCV005190411]	likely benign	16	69693266	69693266	Human	1	name
597919164	CV3848191	single nucleotide variant	NM_138713.4(NFAT5):c.4632C>T (p.Asn1544=)	Immunodeficiency [RCV005194071]	likely benign	16	69695353	69695353	Human	1	name
597924136	CV3857330	single nucleotide variant	NM_138713.4(NFAT5):c.4266C>T (p.Asn1422=)	Immunodeficiency [RCV005198937]	likely benign	16	69694091	69694091	Human	1	name
598238019	CV3997576	single nucleotide variant	NM_138713.4(NFAT5):c.863G>A (p.Cys288Tyr)	not specified [RCV005382682]	uncertain significance	16	69653286	69653286	Human		name
598191790	CV3997582	single nucleotide variant	NM_138713.4(NFAT5):c.712T>G (p.Ser238Ala)	not specified [RCV005374254]	uncertain significance	16	69647486	69647486	Human		name
13468340	CV466656	single nucleotide variant	NM_138713.4(NFAT5):c.430A>G (p.Ser144Gly)	Immunodeficiency [RCV000544454]\|not provided [RCV004705644]\|not specified [RCV004023759]	likely benign\|uncertain significance	16	69647204	69647204	Human	1	name
13475849	CV466663	single nucleotide variant	NM_138713.4(NFAT5):c.3351T>C (p.Ile1117=)	Immunodeficiency [RCV000526473]\|NFAT5-related disorder [RCV003962467]\|not provided [RCV004710086]	benign	16	69693176	69693176	Human	1	name , trait , alternate_id
13613843	CV530245	single nucleotide variant	NM_138713.4(NFAT5):c.3282T>C (p.Asn1094=)	Immunodeficiency [RCV000631399]	likely benign	16	69693107	69693107	Human	1	name
13613777	CV530493	single nucleotide variant	NM_138713.4(NFAT5):c.388G>A (p.Val130Met)	Immunodeficiency [RCV001509636]	benign	16	69647162	69647162	Human	1	name
13613844	CV530505	single nucleotide variant	NM_138713.4(NFAT5):c.3111T>A (p.Pro1037=)	Immunodeficiency [RCV000631398]\|not provided [RCV003432658]	likely benign	16	69692936	69692936	Human	1	name
13613776	CV530507	single nucleotide variant	NM_138713.4(NFAT5):c.3819A>G (p.Gln1273=)	Immunodeficiency [RCV000631394]	likely benign	16	69693644	69693644	Human	1	name
13613773	CV530719	single nucleotide variant	NM_138713.4(NFAT5):c.3816G>A (p.Gln1272=)	Immunodeficiency [RCV000631392]	likely benign	16	69693641	69693641	Human	1	name
14736294	CV644893	single nucleotide variant	NM_138713.4(NFAT5):c.545G>A (p.Cys182Tyr)	Immunodeficiency [RCV000819961]	uncertain significance	16	69647319	69647319	Human	1	name
15170115	CV715032	single nucleotide variant	NM_138713.4(NFAT5):c.4236A>G (p.Gln1412=)	Immunodeficiency [RCV000971950]	likely benign	16	69694061	69694061	Human	1	name
15179131	CV740324	single nucleotide variant	NM_138713.4(NFAT5):c.3171A>G (p.Gln1057=)	Immunodeficiency [RCV001404620]\|NFAT5-related disorder [RCV003958246]	likely benign	16	69692996	69692996	Human	1	name , trait , alternate_id
15159310	CV740325	single nucleotide variant	NM_138713.4(NFAT5):c.4296G>A (p.Ser1432=)	Immunodeficiency [RCV000902909]	likely benign	16	69694121	69694121	Human	1	name
15142499	CV755351	single nucleotide variant	NM_138713.4(NFAT5):c.4164G>A (p.Gln1388=)	Immunodeficiency [RCV001440421]	likely benign	16	69693989	69693989	Human	1	name
15106561	CV755352	single nucleotide variant	NM_138713.4(NFAT5):c.4389A>G (p.Gly1463=)	Immunodeficiency [RCV001502763]	likely benign	16	69694214	69694214	Human	1	name
26888279	CV844195	single nucleotide variant	NM_138713.4(NFAT5):c.605G>A (p.Ser202Asn)	Immunodeficiency [RCV001045215]\|not specified [RCV004031387]	uncertain significance	16	69647379	69647379	Human	1	name
26888411	CV844196	single nucleotide variant	NM_138713.4(NFAT5):c.698G>A (p.Arg233Gln)	Immunodeficiency [RCV001045270]	uncertain significance	16	69647472	69647472	Human	1	name
26902553	CV844197	single nucleotide variant	NM_138713.4(NFAT5):c.779C>T (p.Thr260Met)	Immunodeficiency [RCV001071928]	uncertain significance	16	69647553	69647553	Human	1	name
38478528	CV927909	single nucleotide variant	NM_138713.4(NFAT5):c.814A>G (p.Thr272Ala)	Immunodeficiency [RCV001216637]	uncertain significance	16	69653237	69653237	Human	1	name
38487595	CV927914	single nucleotide variant	NM_138713.4(NFAT5):c.3090A>G (p.Gln1030=)	Immunodeficiency [RCV001220782]	likely benign\|uncertain significance	16	69692915	69692915	Human	1	name
38470203	CV949518	single nucleotide variant	NM_138713.4(NFAT5):c.409G>A (p.Val137Ile)	Immunodeficiency [RCV001230916]\|not specified [RCV004033109]	uncertain significance	16	69647183	69647183	Human	1	name
126736914	CV997083	single nucleotide variant	NM_138713.4(NFAT5):c.692A>G (p.Lys231Arg)	Immunodeficiency [RCV001295284]	uncertain significance	16	69647466	69647466	Human	1	name
126737099	CV1012338	single nucleotide variant	NM_138713.4(NFAT5):c.1499T>C (p.Val500Ala)	Immunodeficiency [RCV001313938]\|Immunodeficiency and Autoimmune Enterocolopathy [RCV002265980]\|not specified [RCV004034301]	uncertain significance	16	69670106	69670106	Human	2	name
126737455	CV1012340	single nucleotide variant	NM_138713.4(NFAT5):c.1912A>T (p.Thr638Ser)	Immunodeficiency [RCV001313985]	uncertain significance	16	69691077	69691077	Human	1	name
126766919	CV1012341	single nucleotide variant	NM_138713.4(NFAT5):c.2380C>G (p.Gln794Glu)	Immunodeficiency [RCV001320642]	uncertain significance	16	69692205	69692205	Human	1	name
126772474	CV1032827	single nucleotide variant	NM_138713.4(NFAT5):c.2285C>T (p.Ser762Leu)	Immunodeficiency [RCV001345633]	uncertain significance	16	69692110	69692110	Human	1	name
126771270	CV1032828	single nucleotide variant	NM_138713.4(NFAT5):c.2804C>T (p.Pro935Leu)	Immunodeficiency [RCV001344938]	uncertain significance	16	69692629	69692629	Human	1	name
126921665	CV1049809	single nucleotide variant	NM_138713.4(NFAT5):c.1279A>G (p.Thr427Ala)	Immunodeficiency [RCV001363753]	uncertain significance	16	69659809	69659809	Human	1	name
126921866	CV1049810	single nucleotide variant	NM_138713.4(NFAT5):c.1904G>C (p.Arg635Thr)	Immunodeficiency [RCV001363991]	uncertain significance	16	69691069	69691069	Human	1	name
126915041	CV1049811	single nucleotide variant	NM_138713.4(NFAT5):c.2042A>G (p.Gln681Arg)	Immunodeficiency [RCV001359755]	uncertain significance	16	69691867	69691867	Human	1	name
126917080	CV1049812	single nucleotide variant	NM_138713.4(NFAT5):c.2101A>G (p.Ile701Val)	Immunodeficiency [RCV001371872]	uncertain significance	16	69691926	69691926	Human	1	name
151770758	CV1340078	single nucleotide variant	NM_138713.4(NFAT5):c.1987G>A (p.Gly663Ser)	Immunodeficiency [RCV001874423]	uncertain significance	16	69691812	69691812	Human	1	name
151732233	CV1355578	single nucleotide variant	NM_138713.4(NFAT5):c.2533A>C (p.Ser845Arg)	Immunodeficiency [RCV001984329]	uncertain significance	16	69692358	69692358	Human	1	name
151772178	CV1367024	single nucleotide variant	NM_138713.4(NFAT5):c.2746A>G (p.Met916Val)	Immunodeficiency [RCV001988345]	uncertain significance	16	69692571	69692571	Human	1	name
151871317	CV1372128	single nucleotide variant	NM_138713.4(NFAT5):c.2806T>G (p.Ser936Ala)	Immunodeficiency [RCV001960463]	uncertain significance	16	69692631	69692631	Human	1	name
151845251	CV1372514	single nucleotide variant	NM_138713.4(NFAT5):c.1745G>A (p.Arg582Lys)	Immunodeficiency [RCV001995246]	uncertain significance	16	69684941	69684941	Human	1	name
151857196	CV1372943	single nucleotide variant	NM_138713.4(NFAT5):c.2791T>G (p.Ser931Ala)	Immunodeficiency [RCV002033922]	uncertain significance	16	69692616	69692616	Human	1	name
151834851	CV1394293	single nucleotide variant	NM_138713.4(NFAT5):c.2380C>A (p.Gln794Lys)	Immunodeficiency [RCV002051094]	uncertain significance	16	69692205	69692205	Human	1	name
151833192	CV1396295	single nucleotide variant	NM_138713.4(NFAT5):c.2981C>T (p.Thr994Ile)	Immunodeficiency [RCV001902014]	uncertain significance	16	69692806	69692806	Human	1	name
151878915	CV1398587	single nucleotide variant	NM_138713.4(NFAT5):c.2884A>G (p.Thr962Ala)	Immunodeficiency [RCV002019889]	uncertain significance	16	69692709	69692709	Human	1	name
151746945	CV1403011	single nucleotide variant	NM_138713.4(NFAT5):c.1928C>T (p.Thr643Ile)	Immunodeficiency [RCV001912537]	uncertain significance	16	69691753	69691753	Human	1	name
151795784	CV1404502	single nucleotide variant	NM_138713.4(NFAT5):c.2929C>T (p.Pro977Ser)	Immunodeficiency [RCV002011112]	uncertain significance	16	69692754	69692754	Human	1	name
151890607	CV1405250	single nucleotide variant	NM_138713.4(NFAT5):c.2983C>T (p.Pro995Ser)	Immunodeficiency [RCV001888454]	uncertain significance	16	69692808	69692808	Human	1	name
151726255	CV1415954	single nucleotide variant	NM_138713.4(NFAT5):c.2672A>C (p.Glu891Ala)	Immunodeficiency [RCV001945560]\|not specified [RCV005374905]	uncertain significance	16	69692497	69692497	Human	1	name
151856259	CV1421845	single nucleotide variant	NM_138713.4(NFAT5):c.2842C>T (p.Pro948Ser)	Immunodeficiency [RCV001937986]	uncertain significance	16	69692667	69692667	Human	1	name
151742169	CV1431587	single nucleotide variant	NM_138713.4(NFAT5):c.2981C>A (p.Thr994Asn)	Immunodeficiency [RCV001926570]	uncertain significance	16	69692806	69692806	Human	1	name
151816312	CV1440970	single nucleotide variant	NM_138713.4(NFAT5):c.1902A>C (p.Lys634Asn)	Immunodeficiency [RCV001933708]	uncertain significance	16	69691067	69691067	Human	1	name
151849323	CV1442048	single nucleotide variant	NM_138713.4(NFAT5):c.2540A>C (p.Asp847Ala)	Immunodeficiency [RCV001995750]	uncertain significance	16	69692365	69692365	Human	1	name
151849646	CV1451961	single nucleotide variant	NM_138713.4(NFAT5):c.2149C>T (p.Pro717Ser)	Immunodeficiency [RCV002016400]\|not specified [RCV004046257]	uncertain significance	16	69691974	69691974	Human	1	name
151821863	CV1456311	single nucleotide variant	NM_138713.4(NFAT5):c.1511A>T (p.Asn504Ile)	Immunodeficiency [RCV002029970]	uncertain significance	16	69670242	69670242	Human	1	name
151809853	CV1459932	single nucleotide variant	NM_138713.4(NFAT5):c.1706T>C (p.Leu569Ser)	Immunodeficiency [RCV002048751]	uncertain significance	16	69684902	69684902	Human	1	name
151810316	CV1460134	single nucleotide variant	NM_138713.4(NFAT5):c.1909T>G (p.Ser637Ala)	Immunodeficiency [RCV002048795]	uncertain significance	16	69691074	69691074	Human	1	name
151736401	CV1463562	single nucleotide variant	NM_138713.4(NFAT5):c.2926C>T (p.Pro976Ser)	Immunodeficiency [RCV001911454]	uncertain significance	16	69692751	69692751	Human	1	name
151776169	CV1463811	single nucleotide variant	NM_138713.4(NFAT5):c.2341C>G (p.Pro781Ala)	Immunodeficiency [RCV001896812]	uncertain significance	16	69692166	69692166	Human	1	name
151796146	CV1476340	single nucleotide variant	NM_138713.4(NFAT5):c.2542A>G (p.Ile848Val)	Immunodeficiency [RCV001931881]	uncertain significance	16	69692367	69692367	Human	1	name
151871433	CV1477086	single nucleotide variant	NM_138713.4(NFAT5):c.1595A>T (p.Gln532Leu)	Immunodeficiency [RCV001906539]	uncertain significance	16	69677240	69677240	Human	1	name
151713045	CV1479770	single nucleotide variant	NM_138713.4(NFAT5):c.2435G>C (p.Ser812Thr)	Immunodeficiency [RCV001889775]	uncertain significance	16	69692260	69692260	Human	1	name
151877983	CV1483240	single nucleotide variant	NM_138713.4(NFAT5):c.1595A>C (p.Gln532Pro)	Immunodeficiency [RCV001886096]	uncertain significance	16	69677240	69677240	Human	1	name
151885117	CV1494390	single nucleotide variant	NM_138713.4(NFAT5):c.1681C>G (p.Pro561Ala)	Immunodeficiency [RCV001962476]	uncertain significance	16	69677326	69677326	Human	1	name
151753267	CV1501177	single nucleotide variant	NM_138713.4(NFAT5):c.2320C>A (p.Gln774Lys)	Immunodeficiency [RCV001969414]	uncertain significance	16	69692145	69692145	Human	1	name
151773389	CV1504904	single nucleotide variant	NM_138713.4(NFAT5):c.1945A>G (p.Thr649Ala)	Immunodeficiency [RCV001988453]	uncertain significance	16	69691770	69691770	Human	1	name
151785937	CV1513493	single nucleotide variant	NM_138713.4(NFAT5):c.2731T>G (p.Ser911Ala)	Immunodeficiency [RCV001916321]	uncertain significance	16	69692556	69692556	Human	1	name
151869621	CV1516799	single nucleotide variant	NM_138713.4(NFAT5):c.2684C>A (p.Ser895Tyr)	Immunodeficiency [RCV001981129]	uncertain significance	16	69692509	69692509	Human	1	name
151888527	CV1517150	single nucleotide variant	NM_138713.4(NFAT5):c.2501C>T (p.Pro834Leu)	Immunodeficiency [RCV002038419]	uncertain significance	16	69692326	69692326	Human	1	name
155749329	CV1775487	single nucleotide variant	NM_138713.4(NFAT5):c.1655A>G (p.His552Arg)	Immunodeficiency [RCV002304536]	uncertain significance	16	69677300	69677300	Human	1	name
155689519	CV1777868	single nucleotide variant	NM_138713.4(NFAT5):c.2942G>T (p.Gly981Val)	Immunodeficiency [RCV002299213]	uncertain significance	16	69692767	69692767	Human	1	name
156358463	CV1873866	single nucleotide variant	NM_138713.4(NFAT5):c.2242A>G (p.Asn748Asp)	Immunodeficiency [RCV003065436]	uncertain significance	16	69692067	69692067	Human	1	name
156357659	CV1877673	single nucleotide variant	NM_138713.4(NFAT5):c.2207C>G (p.Ser736Cys)	Immunodeficiency [RCV003065374]	uncertain significance	16	69692032	69692032	Human	1	name
156388543	CV1888339	single nucleotide variant	NM_138713.4(NFAT5):c.2866A>G (p.Met956Val)	Immunodeficiency [RCV003067772]	uncertain significance	16	69692691	69692691	Human	1	name
156385461	CV1893744	single nucleotide variant	NM_138713.4(NFAT5):c.2216T>G (p.Ile739Arg)	Immunodeficiency [RCV003093642]	uncertain significance	16	69692041	69692041	Human	1	name
156416348	CV1904968	single nucleotide variant	NM_138713.4(NFAT5):c.2559T>A (p.Ser853Arg)	Immunodeficiency [RCV002610126]	uncertain significance	16	69692384	69692384	Human	1	name
156410813	CV1929117	single nucleotide variant	NM_138713.4(NFAT5):c.2589G>A (p.Met863Ile)	Immunodeficiency [RCV002607988]	uncertain significance	16	69692414	69692414	Human	1	name
156236242	CV1982443	single nucleotide variant	NM_138713.4(NFAT5):c.2040G>T (p.Gln680His)	Immunodeficiency [RCV002626979]	uncertain significance	16	69691865	69691865	Human	1	name
156378559	CV2001325	single nucleotide variant	NM_138713.4(NFAT5):c.1768A>G (p.Met590Val)	Immunodeficiency [RCV002653488]	uncertain significance	16	69684964	69684964	Human	1	name
156031476	CV2002409	single nucleotide variant	NM_138713.4(NFAT5):c.2125G>A (p.Ala709Thr)	Immunodeficiency [RCV002658678]	uncertain significance	16	69691950	69691950	Human	1	name
156142985	CV2002844	single nucleotide variant	NM_138713.4(NFAT5):c.2810C>T (p.Thr937Ile)	Immunodeficiency [RCV002663637]	uncertain significance	16	69692635	69692635	Human	1	name
155956935	CV2010491	single nucleotide variant	NM_138713.4(NFAT5):c.2666A>G (p.Gln889Arg)	Immunodeficiency [RCV002686315]	uncertain significance	16	69692491	69692491	Human	1	name
155957740	CV2010560	single nucleotide variant	NM_138713.4(NFAT5):c.1895C>T (p.Ala632Val)	Immunodeficiency [RCV002686358]\|not specified [RCV004066890]	uncertain significance	16	69691060	69691060	Human	1	name
156053684	CV2027492	single nucleotide variant	NM_138713.4(NFAT5):c.2000C>T (p.Ser667Leu)	Immunodeficiency [RCV002736594]	uncertain significance	16	69691825	69691825	Human	1	name
156252719	CV2041130	single nucleotide variant	NM_138713.4(NFAT5):c.2797T>A (p.Leu933Ile)	Immunodeficiency [RCV002806066]	uncertain significance	16	69692622	69692622	Human	1	name
156289268	CV2058445	single nucleotide variant	NM_138713.4(NFAT5):c.1093T>C (p.Cys365Arg)	Immunodeficiency [RCV002833131]	uncertain significance	16	69655696	69655696	Human	1	name
156002230	CV2119072	single nucleotide variant	NM_138713.4(NFAT5):c.1360A>G (p.Ile454Val)	Immunodeficiency [RCV002975239]	uncertain significance	16	69659890	69659890	Human	1	name
156003164	CV2119122	single nucleotide variant	NM_138713.4(NFAT5):c.2179A>G (p.Thr727Ala)	Immunodeficiency [RCV002975281]\|NFAT5-related disorder [RCV003403983]	uncertain significance	16	69692004	69692004	Human	1	name , trait , alternate_id
155963352	CV2142382	single nucleotide variant	NM_138713.4(NFAT5):c.2348C>T (p.Pro783Leu)	Immunodeficiency [RCV002995265]	uncertain significance	16	69692173	69692173	Human	1	name
156193942	CV2146498	single nucleotide variant	NM_138713.4(NFAT5):c.2461G>C (p.Glu821Gln)	Immunodeficiency [RCV003006093]	uncertain significance	16	69692286	69692286	Human	1	name
156308930	CV2150085	single nucleotide variant	NM_138713.4(NFAT5):c.2995A>G (p.Met999Val)	Immunodeficiency [RCV003028466]	uncertain significance	16	69692820	69692820	Human	1	name
156288725	CV2155027	single nucleotide variant	NM_138713.4(NFAT5):c.2812G>A (p.Ala938Thr)	Immunodeficiency [RCV003009881]	uncertain significance	16	69692637	69692637	Human	1	name
156307018	CV2167660	single nucleotide variant	NM_138713.4(NFAT5):c.1576G>A (p.Val526Ile)	Immunodeficiency [RCV003045830]	uncertain significance	16	69677221	69677221	Human	1	name
156371140	CV2168598	single nucleotide variant	NM_138713.4(NFAT5):c.1540A>C (p.Met514Leu)	Immunodeficiency [RCV003032238]	uncertain significance	16	69670271	69670271	Human	1	name
155995887	CV2171589	single nucleotide variant	NM_138713.4(NFAT5):c.1748C>T (p.Pro583Leu)	Immunodeficiency [RCV003034542]	uncertain significance	16	69684944	69684944	Human	1	name
156277036	CV2185976	single nucleotide variant	NM_138713.4(NFAT5):c.2224T>A (p.Ser742Thr)	Immunodeficiency [RCV003044651]	uncertain significance	16	69692049	69692049	Human	1	name
156268048	CV2189343	single nucleotide variant	NM_138713.4(NFAT5):c.1966A>G (p.Ile656Val)	Immunodeficiency [RCV003044352]	uncertain significance	16	69691791	69691791	Human	1	name
156250989	CV2232248	single nucleotide variant	NM_138713.4(NFAT5):c.1795A>T (p.Asn599Tyr)	NFAT5-related disorder [RCV004741423]\|not specified [RCV004105033]	uncertain significance	16	69690960	69690960	Human		name , trait , alternate_id
156000331	CV2257738	single nucleotide variant	NM_138713.4(NFAT5):c.1249A>G (p.Ile417Val)	Immunodeficiency [RCV003754999]\|not specified [RCV004127811]	uncertain significance	16	69659779	69659779	Human	1	name
156340902	CV2268187	single nucleotide variant	NM_138713.4(NFAT5):c.2938T>C (p.Ser980Pro)	Immunodeficiency [RCV003755002]\|not specified [RCV004138499]	uncertain significance	16	69692763	69692763	Human	1	name
156073414	CV2299204	single nucleotide variant	NM_138713.4(NFAT5):c.2302G>A (p.Ala768Thr)	not specified [RCV004152539]	uncertain significance	16	69692127	69692127	Human		name
156401990	CV2367786	single nucleotide variant	NM_138713.4(NFAT5):c.2585G>A (p.Gly862Glu)	not specified [RCV004222904]	uncertain significance	16	69692410	69692410	Human		name
401736476	CV2688799	single nucleotide variant	NM_138713.4(NFAT5):c.1927A>G (p.Thr643Ala)	not specified [RCV004303821]	uncertain significance	16	69691752	69691752	Human		name
401735886	CV2692222	single nucleotide variant	NM_138713.4(NFAT5):c.2423G>A (p.Gly808Asp)	not specified [RCV004303703]	uncertain significance	16	69692248	69692248	Human		name
401756173	CV2733873	single nucleotide variant	NM_138713.4(NFAT5):c.2086A>G (p.Ile696Val)	Immunodeficiency [RCV003755032]\|not specified [RCV004333546]	uncertain significance	16	69691911	69691911	Human	1	name
401859971	CV2768425	single nucleotide variant	NM_138713.4(NFAT5):c.1147A>C (p.Thr383Pro)	not specified [RCV004344316]	uncertain significance	16	69655750	69655750	Human		name
401936370	CV2803209	single nucleotide variant	NM_138713.4(NFAT5):c.1545A>C (p.Glu515Asp)	NFAT5-related disorder [RCV003414351]	uncertain significance	16	69670276	69670276	Human		name , trait , alternate_id
405047606	CV2854407	single nucleotide variant	NM_138713.4(NFAT5):c.1450A>G (p.Ile484Val)	Immunodeficiency [RCV003592419]	uncertain significance	16	69670057	69670057	Human	1	name
405046416	CV2854511	single nucleotide variant	NM_138713.4(NFAT5):c.1027G>A (p.Val343Ile)	Immunodeficiency [RCV003592450]	uncertain significance	16	69655630	69655630	Human	1	name
405046756	CV2855065	single nucleotide variant	NM_138713.4(NFAT5):c.1877C>T (p.Thr626Ile)	Immunodeficiency [RCV003592481]	uncertain significance	16	69691042	69691042	Human	1	name
405046273	CV2857936	single nucleotide variant	NM_138713.4(NFAT5):c.2752A>T (p.Met918Leu)	Immunodeficiency [RCV003592436]	uncertain significance	16	69692577	69692577	Human	1	name
405047225	CV2859213	single nucleotide variant	NM_138713.4(NFAT5):c.2356G>A (p.Val786Met)	Immunodeficiency [RCV003592522]	uncertain significance	16	69692181	69692181	Human	1	name
405049057	CV2865782	single nucleotide variant	NM_138713.4(NFAT5):c.1940G>A (p.Gly647Glu)	Immunodeficiency [RCV003592513]	uncertain significance	16	69691765	69691765	Human	1	name
405048484	CV2867127	single nucleotide variant	NM_138713.4(NFAT5):c.1771A>G (p.Lys591Glu)	Immunodeficiency [RCV003592628]	uncertain significance	16	69684967	69684967	Human	1	name
405049764	CV2872053	single nucleotide variant	NM_138713.4(NFAT5):c.1904G>T (p.Arg635Ile)	Immunodeficiency [RCV003592735]	uncertain significance	16	69691069	69691069	Human	1	name
405049158	CV2875063	single nucleotide variant	NM_138713.4(NFAT5):c.2867T>C (p.Met956Thr)	Immunodeficiency [RCV003592686]	uncertain significance	16	69692692	69692692	Human	1	name
405048527	CV2877736	single nucleotide variant	NM_138713.4(NFAT5):c.2954C>G (p.Ser985Cys)	Immunodeficiency [RCV003592631]	uncertain significance	16	69692779	69692779	Human	1	name
405038887	CV2916578	single nucleotide variant	NM_138713.4(NFAT5):c.1301G>A (p.Arg434Gln)	Immunodeficiency [RCV003591458]	uncertain significance	16	69659831	69659831	Human	1	name
405038787	CV2919975	single nucleotide variant	NM_138713.4(NFAT5):c.1996T>C (p.Ser666Pro)	Immunodeficiency [RCV003591449]	uncertain significance	16	69691821	69691821	Human	1	name
405039828	CV2924771	single nucleotide variant	NM_138713.4(NFAT5):c.1793G>A (p.Cys598Tyr)	Immunodeficiency [RCV003591551]	uncertain significance	16	69690958	69690958	Human	1	name
405041735	CV2925153	single nucleotide variant	NM_138713.4(NFAT5):c.1109G>A (p.Arg370Gln)	Immunodeficiency [RCV003591585]	uncertain significance	16	69655712	69655712	Human	1	name
405139257	CV2940906	single nucleotide variant	NM_138713.4(NFAT5):c.2438T>C (p.Val813Ala)	Immunodeficiency [RCV003755105]	uncertain significance	16	69692263	69692263	Human	1	name
405140536	CV2954382	single nucleotide variant	NM_138713.4(NFAT5):c.2882C>G (p.Ser961Cys)	Immunodeficiency [RCV003755242]	uncertain significance	16	69692707	69692707	Human	1	name
405140678	CV2958256	single nucleotide variant	NM_138713.4(NFAT5):c.1982G>A (p.Gly661Glu)	Immunodeficiency [RCV003755255]	uncertain significance	16	69691807	69691807	Human	1	name
405140464	CV2961015	single nucleotide variant	NM_138713.4(NFAT5):c.2530C>T (p.Leu844Phe)	Immunodeficiency [RCV003755235]	uncertain significance	16	69692355	69692355	Human	1	name
405142036	CV2965256	single nucleotide variant	NM_138713.4(NFAT5):c.1198G>A (p.Val400Met)	Immunodeficiency [RCV003755411]	uncertain significance	16	69659728	69659728	Human	1	name
405141957	CV2968763	single nucleotide variant	NM_138713.4(NFAT5):c.2360G>A (p.Ser787Asn)	Immunodeficiency [RCV003755401]	uncertain significance	16	69692185	69692185	Human	1	name
405143252	CV2978867	single nucleotide variant	NM_138713.4(NFAT5):c.2791T>A (p.Ser931Thr)	Immunodeficiency [RCV003755548]	uncertain significance	16	69692616	69692616	Human	1	name
405145697	CV3009821	single nucleotide variant	NM_138713.4(NFAT5):c.1798T>A (p.Leu600Ile)	Immunodeficiency [RCV003755813]	uncertain significance	16	69690963	69690963	Human	1	name
405146061	CV3010394	single nucleotide variant	NM_138713.4(NFAT5):c.2779G>A (p.Ala927Thr)	Immunodeficiency [RCV003755851]	uncertain significance	16	69692604	69692604	Human	1	name
405145206	CV3011926	single nucleotide variant	NM_138713.4(NFAT5):c.1612G>A (p.Val538Met)	Immunodeficiency [RCV003755757]	uncertain significance	16	69677257	69677257	Human	1	name
405146488	CV3015875	single nucleotide variant	NM_138713.4(NFAT5):c.2260G>A (p.Glu754Lys)	Immunodeficiency [RCV003755798]	uncertain significance	16	69692085	69692085	Human	1	name
405147692	CV3020462	single nucleotide variant	NM_138713.4(NFAT5):c.1162G>A (p.Val388Ile)	Immunodeficiency [RCV003755983]	uncertain significance	16	69655765	69655765	Human	1	name
405147642	CV3023966	single nucleotide variant	NM_138713.4(NFAT5):c.1052A>G (p.Asn351Ser)	Immunodeficiency [RCV003755979]	uncertain significance	16	69655655	69655655	Human	1	name
405147887	CV3031243	single nucleotide variant	NM_138713.4(NFAT5):c.1717G>T (p.Val573Leu)	Immunodeficiency [RCV003756005]\|not specified [RCV004373901]	uncertain significance	16	69684913	69684913	Human	1	name
405148285	CV3041396	single nucleotide variant	NM_138713.4(NFAT5):c.2046G>C (p.Gln682His)	Immunodeficiency [RCV003756045]	uncertain significance	16	69691871	69691871	Human	1	name
405148850	CV3043012	single nucleotide variant	NM_138713.4(NFAT5):c.1393A>G (p.Ile465Val)	Immunodeficiency [RCV003756124]	uncertain significance	16	69670000	69670000	Human	1	name
405122702	CV3126292	single nucleotide variant	NM_138713.4(NFAT5):c.1439A>T (p.Glu480Val)	Immunodeficiency [RCV003815044]	uncertain significance	16	69670046	69670046	Human	1	name
405106154	CV3136074	single nucleotide variant	NM_138713.4(NFAT5):c.2740A>G (p.Met914Val)	Immunodeficiency [RCV003835420]	uncertain significance	16	69692565	69692565	Human	1	name
405176293	CV3146887	single nucleotide variant	NM_138713.4(NFAT5):c.1912A>G (p.Thr638Ala)	Immunodeficiency [RCV003841982]	uncertain significance	16	69691077	69691077	Human	1	name
405058946	CV3147896	single nucleotide variant	NM_138713.4(NFAT5):c.1435G>A (p.Glu479Lys)	Immunodeficiency [RCV003850126]	uncertain significance	16	69670042	69670042	Human	1	name
405131178	CV3163691	single nucleotide variant	NM_138713.4(NFAT5):c.2834A>G (p.Gln945Arg)	Immunodeficiency [RCV003854679]	uncertain significance	16	69692659	69692659	Human	1	name
405249575	CV3170124	single nucleotide variant	NM_138713.4(NFAT5):c.2525A>G (p.Glu842Gly)	Immunodeficiency [RCV003869753]	uncertain significance	16	69692350	69692350	Human	1	name
402472476	CV3171796	single nucleotide variant	NM_138713.4(NFAT5):c.1019A>G (p.Asn340Ser)	Immunodeficiency [RCV003874580]	uncertain significance	16	69655622	69655622	Human	1	name
402495493	CV3183099	single nucleotide variant	NM_138713.4(NFAT5):c.1433A>C (p.Glu478Ala)	Immunodeficiency [RCV003877407]	uncertain significance	16	69670040	69670040	Human	1	name
405698214	CV3350597	single nucleotide variant	NM_138713.4(NFAT5):c.2840C>T (p.Ser947Leu)	Immunodeficiency [RCV005104791]\|not specified [RCV004491998]	uncertain significance	16	69692665	69692665	Human	1	name
405697959	CV3354399	single nucleotide variant	NM_138713.4(NFAT5):c.1582C>T (p.Pro528Ser)	not specified [RCV004491955]	uncertain significance	16	69677227	69677227	Human		name
407489965	CV3451174	single nucleotide variant	NM_138713.4(NFAT5):c.2579G>T (p.Ser860Ile)	not specified [RCV004641578]	uncertain significance	16	69692404	69692404	Human		name
407526700	CV3451175	single nucleotide variant	NM_138713.4(NFAT5):c.1166G>C (p.Gly389Ala)	not specified [RCV004654911]	uncertain significance	16	69655769	69655769	Human		name
408382177	CV3504263	single nucleotide variant	NM_138713.4(NFAT5):c.1512C>A (p.Asn504Lys)	NFAT5-related disorder [RCV004729658]	uncertain significance	16	69670243	69670243	Human		name , trait , alternate_id
597640634	CV3562843	single nucleotide variant	NM_138713.4(NFAT5):c.2972A>G (p.Gln991Arg)	Immunodeficiency [RCV005107623]\|not specified [RCV004832154]	uncertain significance	16	69692797	69692797	Human	1	name
597640641	CV3562844	single nucleotide variant	NM_138713.4(NFAT5):c.2542A>T (p.Ile848Phe)	not specified [RCV004832155]	uncertain significance	16	69692367	69692367	Human		name
597640647	CV3562845	single nucleotide variant	NM_138713.4(NFAT5):c.2676C>G (p.Asn892Lys)	not specified [RCV004832156]	uncertain significance	16	69692501	69692501	Human		name
597640653	CV3562846	single nucleotide variant	NM_138713.4(NFAT5):c.2662C>A (p.Pro888Thr)	not specified [RCV004832157]	uncertain significance	16	69692487	69692487	Human		name
597640667	CV3562848	single nucleotide variant	NM_138713.4(NFAT5):c.2176G>A (p.Ala726Thr)	not specified [RCV004832159]	uncertain significance	16	69692001	69692001	Human		name
597640676	CV3562850	single nucleotide variant	NM_138713.4(NFAT5):c.2973G>C (p.Gln991His)	not specified [RCV004832161]	uncertain significance	16	69692798	69692798	Human		name
597640688	CV3562852	single nucleotide variant	NM_138713.4(NFAT5):c.2209A>G (p.Arg737Gly)	Immunodeficiency [RCV005107625]\|not specified [RCV004832163]	uncertain significance	16	69692034	69692034	Human	1	name
597893377	CV3743955	single nucleotide variant	NM_138713.4(NFAT5):c.1882A>G (p.Met628Val)	Immunodeficiency [RCV005071425]	uncertain significance	16	69691047	69691047	Human	1	name
597884859	CV3745500	single nucleotide variant	NM_138713.4(NFAT5):c.2984C>T (p.Pro995Leu)	Immunodeficiency [RCV005070336]	uncertain significance	16	69692809	69692809	Human	1	name
597945888	CV3755456	single nucleotide variant	NM_138713.4(NFAT5):c.2414C>G (p.Thr805Ser)	Immunodeficiency [RCV005078465]	uncertain significance	16	69692239	69692239	Human	1	name
597943558	CV3758027	single nucleotide variant	NM_138713.4(NFAT5):c.2183A>G (p.Gln728Arg)	Immunodeficiency [RCV005078026]	uncertain significance	16	69692008	69692008	Human	1	name
597835364	CV3766466	single nucleotide variant	NM_138713.4(NFAT5):c.1639A>G (p.Asn547Asp)	Immunodeficiency [RCV005106191]	uncertain significance	16	69677284	69677284	Human	1	name
597847952	CV3776021	single nucleotide variant	NM_138713.4(NFAT5):c.2351A>T (p.Asn784Ile)	Immunodeficiency [RCV005123548]	uncertain significance	16	69692176	69692176	Human	1	name
597852208	CV3779109	single nucleotide variant	NM_138713.4(NFAT5):c.2239G>A (p.Val747Ile)	Immunodeficiency [RCV005127186]	uncertain significance	16	69692064	69692064	Human	1	name
597853382	CV3781510	single nucleotide variant	NM_138713.4(NFAT5):c.2907G>T (p.Gln969His)	Immunodeficiency [RCV005128198]	uncertain significance	16	69692732	69692732	Human	1	name
597849958	CV3787639	single nucleotide variant	NM_138713.4(NFAT5):c.2049T>G (p.Ile683Met)	Immunodeficiency [RCV005125205]	uncertain significance	16	69691874	69691874	Human	1	name
597858463	CV3787945	single nucleotide variant	NM_138713.4(NFAT5):c.1271A>G (p.Lys424Arg)	Immunodeficiency [RCV005132824]	uncertain significance	16	69659801	69659801	Human	1	name
597861937	CV3790001	single nucleotide variant	NM_138713.4(NFAT5):c.2660A>G (p.His887Arg)	Immunodeficiency [RCV005134702]	uncertain significance	16	69692485	69692485	Human	1	name
597863227	CV3800544	single nucleotide variant	NM_138713.4(NFAT5):c.2888A>T (p.Asn963Ile)	Immunodeficiency [RCV005137636]	uncertain significance	16	69692713	69692713	Human	1	name
597872873	CV3802986	single nucleotide variant	NM_138713.4(NFAT5):c.1804A>G (p.Lys602Glu)	Immunodeficiency [RCV005147773]	uncertain significance	16	69690969	69690969	Human	1	name
597881697	CV3816227	single nucleotide variant	NM_138713.4(NFAT5):c.2708A>C (p.Gln903Pro)	Immunodeficiency [RCV005156808]	uncertain significance	16	69692533	69692533	Human	1	name
597885621	CV3818424	single nucleotide variant	NM_138713.4(NFAT5):c.2201C>G (p.Thr734Ser)	Immunodeficiency [RCV005160685]	uncertain significance	16	69692026	69692026	Human	1	name
597893336	CV3820624	single nucleotide variant	NM_138713.4(NFAT5):c.2861C>T (p.Ser954Phe)	Immunodeficiency [RCV005168141]	uncertain significance	16	69692686	69692686	Human	1	name
597904174	CV3835073	single nucleotide variant	NM_138713.4(NFAT5):c.1735A>C (p.Ser579Arg)	Immunodeficiency [RCV005178797]	uncertain significance	16	69684931	69684931	Human	1	name
597917856	CV3840372	single nucleotide variant	NM_138713.4(NFAT5):c.2092A>T (p.Thr698Ser)	Immunodeficiency [RCV005192856]	uncertain significance	16	69691917	69691917	Human	1	name
597929810	CV3851140	single nucleotide variant	NM_138713.4(NFAT5):c.2247G>T (p.Leu749Phe)	Immunodeficiency [RCV005204108]	uncertain significance	16	69692072	69692072	Human	1	name
597928989	CV3853783	single nucleotide variant	NM_138713.4(NFAT5):c.1742C>A (p.Ala581Glu)	Immunodeficiency [RCV005203266]	uncertain significance	16	69684938	69684938	Human	1	name
597926534	CV3857228	single nucleotide variant	NM_138713.4(NFAT5):c.1333T>G (p.Leu445Val)	Immunodeficiency [RCV005201092]	uncertain significance	16	69659863	69659863	Human	1	name
598191763	CV3997577	single nucleotide variant	NM_138713.4(NFAT5):c.1030G>A (p.Val344Met)	not specified [RCV005374250]	uncertain significance	16	69655633	69655633	Human		name
598191770	CV3997579	single nucleotide variant	NM_138713.4(NFAT5):c.2853G>T (p.Gln951His)	not specified [RCV005374251]	uncertain significance	16	69692678	69692678	Human		name
598191777	CV3997580	single nucleotide variant	NM_138713.4(NFAT5):c.2827A>G (p.Asn943Asp)	not specified [RCV005374252]	uncertain significance	16	69692652	69692652	Human		name
598191784	CV3997581	single nucleotide variant	NM_138713.4(NFAT5):c.2990C>G (p.Thr997Ser)	not specified [RCV005374253]	uncertain significance	16	69692815	69692815	Human		name
13613841	CV530174	single nucleotide variant	NM_138713.4(NFAT5):c.1969T>G (p.Ser657Ala)	Immunodeficiency [RCV000631400]\|NFAT5-related disorder [RCV003905690]\|not provided [RCV004710165]	benign	16	69691794	69691794	Human	1	name , trait , alternate_id
13613768	CV530496	single nucleotide variant	NM_138713.4(NFAT5):c.1777A>G (p.Met593Val)	Immunodeficiency [RCV000631389]	uncertain significance	16	69690942	69690942	Human	1	name
13815152	CV568273	single nucleotide variant	NM_138713.4(NFAT5):c.2157C>A (p.Ser719Arg)	Immunodeficiency [RCV000691394]\|not specified [RCV004025087]	uncertain significance	16	69691982	69691982	Human	1	name
13817228	CV570384	single nucleotide variant	NM_138713.4(NFAT5):c.1490A>G (p.Gln497Arg)	Immunodeficiency [RCV000706878]	uncertain significance	16	69670097	69670097	Human	1	name
13817075	CV570447	single nucleotide variant	NM_138713.4(NFAT5):c.1832T>A (p.Met611Lys)	Immunodeficiency [RCV000706780]\|not specified [RCV004026729]	uncertain significance	16	69690997	69690997	Human	1	name
13806281	CV574133	single nucleotide variant	NM_138713.4(NFAT5):c.2678C>A (p.Thr893Lys)	Immunodeficiency [RCV000700505]	uncertain significance	16	69692503	69692503	Human	1	name
14716920	CV644894	single nucleotide variant	NM_138713.4(NFAT5):c.1165G>A (p.Gly389Ser)	Immunodeficiency [RCV000795271]	uncertain significance	16	69655768	69655768	Human	1	name
14737647	CV644895	single nucleotide variant	NM_138713.4(NFAT5):c.1765G>T (p.Ala589Ser)	Immunodeficiency [RCV000820550]	uncertain significance	16	69684961	69684961	Human	1	name
14715924	CV644896	single nucleotide variant	NM_138713.4(NFAT5):c.1819C>T (p.Pro607Ser)	Immunodeficiency [RCV000811401]\|not specified [RCV004028723]	uncertain significance	16	69690984	69690984	Human	1	name
14740530	CV644897	single nucleotide variant	NM_138713.4(NFAT5):c.2023T>G (p.Ser675Ala)	Immunodeficiency [RCV000805402]	uncertain significance	16	69691848	69691848	Human	1	name
14743578	CV644898	single nucleotide variant	NM_138713.4(NFAT5):c.2030A>G (p.Asn677Ser)	Immunodeficiency [RCV000823526]	uncertain significance	16	69691855	69691855	Human	1	name
14710754	CV644899	single nucleotide variant	NM_138713.4(NFAT5):c.2093C>A (p.Thr698Asn)	Immunodeficiency [RCV000793222]	uncertain significance	16	69691918	69691918	Human	1	name
14740361	CV644900	single nucleotide variant	NM_138713.4(NFAT5):c.2204A>T (p.Gln735Leu)	Immunodeficiency [RCV000821771]\|not provided [RCV001535681]	uncertain significance\|not provided	16	69692029	69692029	Human	1	name
14725751	CV644901	single nucleotide variant	NM_138713.4(NFAT5):c.2227G>A (p.Asp743Asn)	Immunodeficiency [RCV000815343]\|NFAT5-related disorder [RCV004740459]\|not specified [RCV004649343]	uncertain significance	16	69692052	69692052	Human	1	name , trait , alternate_id
14719658	CV644902	single nucleotide variant	NM_138713.4(NFAT5):c.2287C>A (p.Pro763Thr)	Immunodeficiency [RCV000796305]	uncertain significance	16	69692112	69692112	Human	1	name
14719968	CV644903	single nucleotide variant	NM_138713.4(NFAT5):c.2332A>G (p.Asn778Asp)	Immunodeficiency [RCV000812832]\|not specified [RCV004028780]	uncertain significance	16	69692157	69692157	Human	1	name
14738195	CV644904	single nucleotide variant	NM_138713.4(NFAT5):c.2504A>T (p.Asp835Val)	Immunodeficiency [RCV000804393]	uncertain significance	16	69692329	69692329	Human	1	name
14723011	CV644905	single nucleotide variant	NM_138713.4(NFAT5):c.2624C>A (p.Pro875Gln)	Immunodeficiency [RCV000797786]	uncertain significance	16	69692449	69692449	Human	1	name
14721801	CV644906	single nucleotide variant	NM_138713.4(NFAT5):c.2678C>T (p.Thr893Met)	Immunodeficiency [RCV000813637]	uncertain significance	16	69692503	69692503	Human	1	name
14707574	CV644907	single nucleotide variant	NM_138713.4(NFAT5):c.2690A>G (p.Gln897Arg)	Immunodeficiency [RCV000792360]	uncertain significance	16	69692515	69692515	Human	1	name
14727605	CV644908	single nucleotide variant	NM_138713.4(NFAT5):c.2783A>G (p.Gln928Arg)	Immunodeficiency [RCV000816150]\|NFAT5-related disorder [RCV003892748]\|not specified [RCV004028879]	uncertain significance	16	69692608	69692608	Human	1	name , trait , alternate_id
14743624	CV644909	single nucleotide variant	NM_138713.4(NFAT5):c.2907G>C (p.Gln969His)	Immunodeficiency [RCV000823560]	uncertain significance	16	69692732	69692732	Human	1	name
15152543	CV726763	single nucleotide variant	NM_138713.4(NFAT5):c.1697C>G (p.Ala566Gly)	Immunodeficiency [RCV000879829]\|NFAT5-related disorder [RCV003940389]	benign\|likely benign	16	69684893	69684893	Human	1	name , trait , alternate_id
15167225	CV740321	single nucleotide variant	NM_138713.4(NFAT5):c.2510A>G (p.Asn837Ser)	Immunodeficiency [RCV000904610]\|NFAT5-related disorder [RCV003912921]	likely benign	16	69692335	69692335	Human	1	name , trait , alternate_id
26922366	CV844198	single nucleotide variant	NM_138713.4(NFAT5):c.1193T>G (p.Leu398Arg)	Immunodeficiency [RCV001061937]	uncertain significance	16	69655796	69655796	Human	1	name
26917309	CV844199	single nucleotide variant	NM_138713.4(NFAT5):c.2105C>T (p.Ser702Leu)	Immunodeficiency [RCV001042560]\|not specified [RCV004031289]	uncertain significance	16	69691930	69691930	Human	1	name
26907168	CV844200	single nucleotide variant	NM_138713.4(NFAT5):c.2191A>G (p.Thr731Ala)	Immunodeficiency [RCV001037830]	uncertain significance	16	69692016	69692016	Human	1	name
26921877	CV844202	single nucleotide variant	NM_138713.4(NFAT5):c.2361T>G (p.Ser787Arg)	Immunodeficiency [RCV001061382]	uncertain significance	16	69692186	69692186	Human	1	name
26922522	CV844203	single nucleotide variant	NM_138713.4(NFAT5):c.2585G>T (p.Gly862Val)	Immunodeficiency [RCV001062228]	uncertain significance	16	69692410	69692410	Human	1	name
26892717	CV844205	single nucleotide variant	NM_138713.4(NFAT5):c.2742G>A (p.Met914Ile)	Immunodeficiency [RCV001047091]	uncertain significance	16	69692567	69692567	Human	1	name
38479295	CV927910	single nucleotide variant	NM_138713.4(NFAT5):c.1283G>A (p.Arg428His)	Immunodeficiency [RCV001217009]	uncertain significance	16	69659813	69659813	Human	1	name
38480495	CV927911	single nucleotide variant	NM_138713.4(NFAT5):c.1511A>G (p.Asn504Ser)	Immunodeficiency [RCV001217565]	uncertain significance	16	69670242	69670242	Human	1	name
38480971	CV927912	single nucleotide variant	NM_138713.4(NFAT5):c.2135C>T (p.Ala712Val)	Immunodeficiency [RCV001217786]\|not specified [RCV004649503]	uncertain significance	16	69691960	69691960	Human	1	name
38495548	CV949519	single nucleotide variant	NM_138713.4(NFAT5):c.1207G>A (p.Val403Ile)	Immunodeficiency [RCV001225787]\|not specified [RCV004827800]	uncertain significance	16	69659737	69659737	Human	1	name
126735276	CV997084	single nucleotide variant	NM_138713.4(NFAT5):c.1028T>C (p.Val343Ala)	Immunodeficiency [RCV001295056]	uncertain significance	16	69655631	69655631	Human	1	name
126758440	CV997085	single nucleotide variant	NM_138713.4(NFAT5):c.2113G>C (p.Gly705Arg)	Immunodeficiency [RCV001308720]	uncertain significance	16	69691938	69691938	Human	1	name
126730068	CV997086	single nucleotide variant	NM_138713.4(NFAT5):c.2222A>G (p.Gln741Arg)	Immunodeficiency [RCV001303674]	uncertain significance	16	69692047	69692047	Human	1	name
126761613	CV997087	single nucleotide variant	NM_138713.4(NFAT5):c.2258C>T (p.Thr753Ile)	Immunodeficiency [RCV001300147]	uncertain significance	16	69692083	69692083	Human	1	name
126740430	CV997088	single nucleotide variant	NM_138713.4(NFAT5):c.2429G>A (p.Ser810Asn)	Immunodeficiency [RCV001295761]	uncertain significance	16	69692254	69692254	Human	1	name
126759979	CV997089	single nucleotide variant	NM_138713.4(NFAT5):c.2727A>C (p.Glu909Asp)	Immunodeficiency [RCV001299655]	uncertain significance	16	69692552	69692552	Human	1	name
126758806	CV1012342	single nucleotide variant	NM_138713.4(NFAT5):c.3104A>G (p.Asn1035Ser)	Immunodeficiency [RCV001317885]	uncertain significance	16	69692929	69692929	Human	1	name
126737699	CV1012343	single nucleotide variant	NM_138713.4(NFAT5):c.3478C>A (p.Leu1160Ile)	Immunodeficiency [RCV001324831]	uncertain significance	16	69693303	69693303	Human	1	name
126752006	CV1012344	single nucleotide variant	NM_138713.4(NFAT5):c.3497A>G (p.Asn1166Ser)	Immunodeficiency [RCV001316229]	uncertain significance	16	69693322	69693322	Human	1	name
126743188	CV1012345	single nucleotide variant	NM_138713.4(NFAT5):c.3514A>G (p.Thr1172Ala)	Immunodeficiency [RCV001325590]\|not specified [RCV004035173]	uncertain significance	16	69693339	69693339	Human	1	name
126772747	CV1012346	single nucleotide variant	NM_138713.4(NFAT5):c.4303C>T (p.Pro1435Ser)	Immunodeficiency [RCV001323933]	uncertain significance	16	69694128	69694128	Human	1	name
126751076	CV1012347	single nucleotide variant	NM_138713.4(NFAT5):c.4388G>C (p.Gly1463Ala)	Immunodeficiency [RCV001316039]	uncertain significance	16	69694213	69694213	Human	1	name
126765954	CV1032829	single nucleotide variant	NM_138713.4(NFAT5):c.3200G>A (p.Gly1067Glu)	Immunodeficiency [RCV001342234]	uncertain significance	16	69693025	69693025	Human	1	name
126751536	CV1032830	single nucleotide variant	NM_138713.4(NFAT5):c.4244C>G (p.Pro1415Arg)	Immunodeficiency [RCV001338256]	uncertain significance	16	69694069	69694069	Human	1	name
126913145	CV1049813	single nucleotide variant	NM_138713.4(NFAT5):c.3424G>A (p.Ala1142Thr)	Immunodeficiency [RCV001369994]	uncertain significance	16	69693249	69693249	Human	1	name
126923219	CV1049814	single nucleotide variant	NM_138713.4(NFAT5):c.3436G>A (p.Gly1146Ser)	Immunodeficiency [RCV001365592]	uncertain significance	16	69693261	69693261	Human	1	name
126908354	CV1049815	single nucleotide variant	NM_138713.4(NFAT5):c.3529G>C (p.Ala1177Pro)	Immunodeficiency [RCV001367769]	uncertain significance	16	69693354	69693354	Human	1	name
126922476	CV1049816	single nucleotide variant	NM_138713.4(NFAT5):c.3989A>G (p.Gln1330Arg)	Immunodeficiency [RCV001364719]\|NFAT5-related disorder [RCV003394005]\|not specified [RCV004036919]	uncertain significance	16	69693814	69693814	Human	1	name , trait , alternate_id
126921333	CV1049817	single nucleotide variant	NM_138713.4(NFAT5):c.4643C>G (p.Ser1548Cys)	Immunodeficiency [RCV001374333]	uncertain significance	16	69695364	69695364	Human	1	name
127324960	CV1146444	single nucleotide variant	NM_138713.4(NFAT5):c.3073A>T (p.Thr1025Ser)	Immunodeficiency [RCV001485632]\|not provided [RCV003883665]\|not specified [RCV004037253]	likely benign\|uncertain significance	16	69692898	69692898	Human	1	name
151786187	CV1344939	single nucleotide variant	NM_138713.4(NFAT5):c.3931C>G (p.Pro1311Ala)	Immunodeficiency [RCV001989600]	uncertain significance	16	69693756	69693756	Human	1	name
151783204	CV1347548	single nucleotide variant	NM_138713.4(NFAT5):c.4089A>C (p.Glu1363Asp)	Immunodeficiency [RCV002046358]	uncertain significance	16	69693914	69693914	Human	1	name
151863391	CV1347875	single nucleotide variant	NM_138713.4(NFAT5):c.3085A>C (p.Met1029Leu)	Immunodeficiency [RCV001959518]	uncertain significance	16	69692910	69692910	Human	1	name
151876879	CV1360331	single nucleotide variant	NM_138713.4(NFAT5):c.3013T>A (p.Ser1005Thr)	Immunodeficiency [RCV001907175]	uncertain significance	16	69692838	69692838	Human	1	name
151784872	CV1369166	single nucleotide variant	NM_138713.4(NFAT5):c.3253T>G (p.Ser1085Ala)	Immunodeficiency [RCV002046502]	uncertain significance	16	69693078	69693078	Human	1	name
151805138	CV1371929	single nucleotide variant	NM_138713.4(NFAT5):c.4552C>T (p.Pro1518Ser)	Immunodeficiency [RCV001953288]	uncertain significance	16	69695273	69695273	Human	1	name
151851183	CV1386092	single nucleotide variant	NM_138713.4(NFAT5):c.3466A>G (p.Thr1156Ala)	Immunodeficiency [RCV001937368]	uncertain significance	16	69693291	69693291	Human	1	name
151860298	CV1389822	single nucleotide variant	NM_138713.4(NFAT5):c.3108A>T (p.Gln1036His)	Immunodeficiency [RCV001905189]	uncertain significance	16	69692933	69692933	Human	1	name
151793681	CV1390330	single nucleotide variant	NM_138713.4(NFAT5):c.3352G>A (p.Val1118Ile)	Immunodeficiency [RCV001952280]	uncertain significance	16	69693177	69693177	Human	1	name
151725936	CV1395256	single nucleotide variant	NM_138713.4(NFAT5):c.4585A>T (p.Ile1529Phe)	Immunodeficiency [RCV001966585]	uncertain significance	16	69695306	69695306	Human	1	name
151765131	CV1407755	single nucleotide variant	NM_138713.4(NFAT5):c.3101A>G (p.Asp1034Gly)	Immunodeficiency [RCV002044702]	uncertain significance	16	69692926	69692926	Human	1	name
151768447	CV1409532	single nucleotide variant	NM_138713.4(NFAT5):c.4136T>C (p.Val1379Ala)	Immunodeficiency [RCV001896096]	uncertain significance	16	69693961	69693961	Human	1	name
151869893	CV1412263	single nucleotide variant	NM_138713.4(NFAT5):c.4051G>A (p.Val1351Ile)	Immunodeficiency [RCV001885004]	uncertain significance	16	69693876	69693876	Human	1	name
151718932	CV1419850	single nucleotide variant	NM_138713.4(NFAT5):c.4330G>A (p.Ala1444Thr)	Immunodeficiency [RCV001965661]	uncertain significance	16	69694155	69694155	Human	1	name
151774676	CV1419899	single nucleotide variant	NM_138713.4(NFAT5):c.4369T>C (p.Ser1457Pro)	Immunodeficiency [RCV001988575]\|not specified [RCV004045259]	uncertain significance	16	69694194	69694194	Human	1	name
151793713	CV1420485	single nucleotide variant	NM_138713.4(NFAT5):c.4364C>T (p.Pro1455Leu)	Immunodeficiency [RCV002027457]	uncertain significance	16	69694189	69694189	Human	1	name
151880282	CV1421303	single nucleotide variant	NM_138713.4(NFAT5):c.4159G>A (p.Glu1387Lys)	Immunodeficiency [RCV001886374]	uncertain significance	16	69693984	69693984	Human	1	name
151792610	CV1422946	single nucleotide variant	NM_138713.4(NFAT5):c.4471A>G (p.Ile1491Val)	Immunodeficiency [RCV001916963]\|not provided [RCV004693965]	uncertain significance	16	69695192	69695192	Human	1	name
151738443	CV1437409	single nucleotide variant	NM_138713.4(NFAT5):c.3042A>C (p.Gln1014His)	Immunodeficiency [RCV001870769]	uncertain significance	16	69692867	69692867	Human	1	name
151850581	CV1448470	single nucleotide variant	NM_138713.4(NFAT5):c.3673G>A (p.Gly1225Ser)	Immunodeficiency [RCV001957929]	uncertain significance	16	69693498	69693498	Human	1	name
151870333	CV1457535	single nucleotide variant	NM_138713.4(NFAT5):c.3035G>A (p.Gly1012Glu)	Immunodeficiency [RCV001939708]	uncertain significance	16	69692860	69692860	Human	1	name
151761009	CV1459589	single nucleotide variant	NM_138713.4(NFAT5):c.4342A>G (p.Met1448Val)	Immunodeficiency [RCV002044276]	uncertain significance	16	69694167	69694167	Human	1	name
151807713	CV1462770	single nucleotide variant	NM_138713.4(NFAT5):c.3721A>G (p.Met1241Val)	Immunodeficiency [RCV001991526]\|not specified [RCV004651900]	uncertain significance	16	69693546	69693546	Human	1	name
151770894	CV1465074	single nucleotide variant	NM_138713.4(NFAT5):c.3598T>C (p.Phe1200Leu)	Immunodeficiency [RCV002025346]	uncertain significance	16	69693423	69693423	Human	1	name
151829582	CV1465538	single nucleotide variant	NM_138713.4(NFAT5):c.3524A>C (p.Gln1175Pro)	Immunodeficiency [RCV002014181]	uncertain significance	16	69693349	69693349	Human	1	name
151836010	CV1472851	single nucleotide variant	NM_138713.4(NFAT5):c.3701G>A (p.Gly1234Asp)	Immunodeficiency [RCV002051213]	uncertain significance	16	69693526	69693526	Human	1	name
151791300	CV1486211	single nucleotide variant	NM_138713.4(NFAT5):c.4084T>G (p.Ser1362Ala)	Immunodeficiency [RCV002047137]	uncertain significance	16	69693909	69693909	Human	1	name
151865343	CV1495078	single nucleotide variant	NM_138713.4(NFAT5):c.3548A>G (p.Asn1183Ser)	Immunodeficiency [RCV001980646]	uncertain significance	16	69693373	69693373	Human	1	name
151710690	CV1500662	single nucleotide variant	NM_138713.4(NFAT5):c.3495G>A (p.Met1165Ile)	Immunodeficiency [RCV002001897]\|not specified [RCV004651853]	uncertain significance	16	69693320	69693320	Human	1	name
151844993	CV1501545	single nucleotide variant	NM_138713.4(NFAT5):c.3769G>A (p.Val1257Ile)	Immunodeficiency [RCV002015791]	uncertain significance	16	69693594	69693594	Human	1	name
151790566	CV1515371	single nucleotide variant	NM_138713.4(NFAT5):c.3893C>T (p.Ala1298Val)	Immunodeficiency [RCV002027181]	uncertain significance	16	69693718	69693718	Human	1	name
152112281	CV1558946	single nucleotide variant	NM_138713.4(NFAT5):c.3490C>T (p.Pro1164Ser)	Immunodeficiency [RCV002134637]\|not specified [RCV004046332]	likely benign\|uncertain significance	16	69693315	69693315	Human	1	name
152138655	CV1562682	single nucleotide variant	NM_138713.4(NFAT5):c.4558G>T (p.Ala1520Ser)	Immunodeficiency [RCV002100461]	likely benign	16	69695279	69695279	Human	1	name
155749111	CV1773024	single nucleotide variant	NM_138713.4(NFAT5):c.3557C>T (p.Ser1186Phe)	Immunodeficiency [RCV002304307]	uncertain significance	16	69693382	69693382	Human	1	name
155717044	CV1774243	single nucleotide variant	NM_138713.4(NFAT5):c.3121C>T (p.Leu1041Phe)	Immunodeficiency [RCV002296503]	uncertain significance	16	69692946	69692946	Human	1	name
155734870	CV1774428	single nucleotide variant	NM_138713.4(NFAT5):c.4423C>G (p.Gln1475Glu)	Immunodeficiency [RCV002301884]	uncertain significance	16	69695144	69695144	Human	1	name
155749966	CV1776896	single nucleotide variant	NM_138713.4(NFAT5):c.3433C>A (p.Gln1145Lys)	Immunodeficiency [RCV002305211]	uncertain significance	16	69693258	69693258	Human	1	name
155746993	CV1778126	single nucleotide variant	NM_138713.4(NFAT5):c.4027A>G (p.Met1343Val)	Immunodeficiency [RCV002303498]	uncertain significance	16	69693852	69693852	Human	1	name
155804242	CV1866676	single nucleotide variant	NM_138713.4(NFAT5):c.3145A>G (p.Met1049Val)	not provided [RCV002481223]	uncertain significance	16	69692970	69692970	Human		name
156382071	CV1873790	single nucleotide variant	NM_138713.4(NFAT5):c.4507C>A (p.Pro1503Thr)	Immunodeficiency [RCV003067253]	uncertain significance	16	69695228	69695228	Human	1	name
156407217	CV1875022	single nucleotide variant	NM_138713.4(NFAT5):c.3725C>T (p.Pro1242Leu)	Immunodeficiency [RCV003070775]	uncertain significance	16	69693550	69693550	Human	1	name
156416347	CV1904966	single nucleotide variant	NM_138713.4(NFAT5):c.3709C>T (p.Pro1237Ser)	Immunodeficiency [RCV002610125]	uncertain significance	16	69693534	69693534	Human	1	name
156408002	CV1911413	single nucleotide variant	NM_138713.4(NFAT5):c.3824A>G (p.Gln1275Arg)	Immunodeficiency [RCV002607081]	uncertain significance	16	69693649	69693649	Human	1	name
156418132	CV1914461	single nucleotide variant	NM_138713.4(NFAT5):c.3292G>A (p.Asp1098Asn)	Immunodeficiency [RCV002611307]	uncertain significance	16	69693117	69693117	Human	1	name
156381454	CV1928452	single nucleotide variant	NM_138713.4(NFAT5):c.3092A>T (p.His1031Leu)	Immunodeficiency [RCV002634302]	uncertain significance	16	69692917	69692917	Human	1	name
156444548	CV1938407	single nucleotide variant	NM_138713.4(NFAT5):c.3326C>T (p.Ser1109Phe)	Immunodeficiency [RCV003115472]	uncertain significance	16	69693151	69693151	Human	1	name
156405990	CV1953947	single nucleotide variant	NM_138713.4(NFAT5):c.3613C>G (p.Pro1205Ala)	Immunodeficiency [RCV002585767]	uncertain significance	16	69693438	69693438	Human	1	name
156412147	CV1969284	single nucleotide variant	NM_138713.4(NFAT5):c.3766A>G (p.Ile1256Val)	Immunodeficiency [RCV002587722]	uncertain significance	16	69693591	69693591	Human	1	name
155915416	CV1980792	single nucleotide variant	NM_138713.4(NFAT5):c.3341C>T (p.Pro1114Leu)	Immunodeficiency [RCV002614284]	uncertain significance	16	69693166	69693166	Human	1	name
156352697	CV1994583	single nucleotide variant	NM_138713.4(NFAT5):c.4474A>C (p.Ser1492Arg)	Immunodeficiency [RCV002675705]	uncertain significance	16	69695195	69695195	Human	1	name
156237662	CV1999661	single nucleotide variant	NM_138713.4(NFAT5):c.3889A>G (p.Met1297Val)	Immunodeficiency [RCV002667816]\|not specified [RCV004066840]	uncertain significance	16	69693714	69693714	Human	1	name
156119078	CV2004054	single nucleotide variant	NM_138713.4(NFAT5):c.4228G>C (p.Asp1410His)	Immunodeficiency [RCV002662782]	uncertain significance	16	69694053	69694053	Human	1	name
156082678	CV2012064	single nucleotide variant	NM_138713.4(NFAT5):c.3142A>T (p.Met1048Leu)	Immunodeficiency [RCV002706040]	uncertain significance	16	69692967	69692967	Human	1	name
156234629	CV2021473	single nucleotide variant	NM_138713.4(NFAT5):c.3278A>G (p.Gln1093Arg)	Immunodeficiency [RCV002745438]	uncertain significance	16	69693103	69693103	Human	1	name
156146519	CV2037374	single nucleotide variant	NM_138713.4(NFAT5):c.4160A>G (p.Glu1387Gly)	Immunodeficiency [RCV002786707]\|not specified [RCV004064802]	uncertain significance	16	69693985	69693985	Human	1	name
155960390	CV2040429	single nucleotide variant	NM_138713.4(NFAT5):c.3097G>A (p.Gly1033Arg)	Immunodeficiency [RCV002776239]	uncertain significance	16	69692922	69692922	Human	1	name
156167617	CV2045265	single nucleotide variant	NM_138713.4(NFAT5):c.3055C>G (p.Gln1019Glu)	Immunodeficiency [RCV002741763]	uncertain significance	16	69692880	69692880	Human	1	name
156026690	CV2048426	single nucleotide variant	NM_138713.4(NFAT5):c.3302A>G (p.Asn1101Ser)	Immunodeficiency [RCV002795844]	uncertain significance	16	69693127	69693127	Human	1	name
156228651	CV2048563	single nucleotide variant	NM_138713.4(NFAT5):c.4333G>A (p.Gly1445Arg)	Immunodeficiency [RCV002790906]	uncertain significance	16	69694158	69694158	Human	1	name
156322265	CV2053809	single nucleotide variant	NM_138713.4(NFAT5):c.3199G>A (p.Gly1067Arg)	Immunodeficiency [RCV002810158]	uncertain significance	16	69693024	69693024	Human	1	name
156032117	CV2132688	single nucleotide variant	NM_138713.4(NFAT5):c.4078A>C (p.Thr1360Pro)	Immunodeficiency [RCV002999185]	uncertain significance	16	69693903	69693903	Human	1	name
156040940	CV2143446	single nucleotide variant	NM_138713.4(NFAT5):c.3722T>C (p.Met1241Thr)	Immunodeficiency [RCV002999518]	uncertain significance	16	69693547	69693547	Human	1	name
156037339	CV2150292	single nucleotide variant	NM_138713.4(NFAT5):c.4206G>T (p.Leu1402Phe)	Immunodeficiency [RCV003018923]	uncertain significance	16	69694031	69694031	Human	1	name
156071877	CV2169012	single nucleotide variant	NM_138713.4(NFAT5):c.3460C>G (p.Gln1154Glu)	Immunodeficiency [RCV003037592]	uncertain significance	16	69693285	69693285	Human	1	name
156242063	CV2173420	single nucleotide variant	NM_138713.4(NFAT5):c.3694G>A (p.Ala1232Thr)	Immunodeficiency [RCV003043477]	uncertain significance	16	69693519	69693519	Human	1	name
156225879	CV2176416	single nucleotide variant	NM_138713.4(NFAT5):c.4298C>T (p.Pro1433Leu)	Immunodeficiency [RCV003059123]	uncertain significance	16	69694123	69694123	Human	1	name
156166079	CV2184726	single nucleotide variant	NM_138713.4(NFAT5):c.3023G>A (p.Gly1008Glu)	Immunodeficiency [RCV003057074]	uncertain significance	16	69692848	69692848	Human	1	name
156373425	CV2201163	single nucleotide variant	NM_138713.4(NFAT5):c.4631A>G (p.Asn1544Ser)	not specified [RCV004077314]	uncertain significance	16	69695352	69695352	Human		name
155970492	CV2241423	single nucleotide variant	NM_138713.4(NFAT5):c.3410C>G (p.Ser1137Cys)	not specified [RCV004104336]	uncertain significance	16	69693235	69693235	Human		name
156099204	CV2294618	single nucleotide variant	NM_138713.4(NFAT5):c.3259G>A (p.Ala1087Thr)	not specified [RCV004161874]	uncertain significance	16	69693084	69693084	Human		name
156361941	CV2322947	single nucleotide variant	NM_138713.4(NFAT5):c.3542C>T (p.Ala1181Val)	not specified [RCV004185391]	uncertain significance	16	69693367	69693367	Human		name
329364248	CV2467329	single nucleotide variant	NM_138713.4(NFAT5):c.3106C>G (p.Gln1036Glu)	Immunodeficiency [RCV003755024]\|not specified [RCV004285123]	uncertain significance	16	69692931	69692931	Human	1	name
401879389	CV2773064	single nucleotide variant	NM_138713.4(NFAT5):c.3724C>T (p.Pro1242Ser)	not specified [RCV004351502]	uncertain significance	16	69693549	69693549	Human		name
401895400	CV2786441	single nucleotide variant	NM_138713.4(NFAT5):c.4011T>A (p.Asn1337Lys)	not specified [RCV004362025]	uncertain significance	16	69693836	69693836	Human		name
401926265	CV2803518	single nucleotide variant	NM_138713.4(NFAT5):c.3176A>G (p.Gln1059Arg)	Immunodeficiency [RCV003592028]\|NFAT5-related disorder [RCV003405898]	uncertain significance	16	69693001	69693001	Human	1	name , trait , alternate_id
405049842	CV2868681	single nucleotide variant	NM_138713.4(NFAT5):c.3485A>T (p.Gln1162Leu)	Immunodeficiency [RCV003592742]	uncertain significance	16	69693310	69693310	Human	1	name
405057467	CV2894914	single nucleotide variant	NM_138713.4(NFAT5):c.3402G>A (p.Met1134Ile)	Immunodeficiency [RCV003593322]	uncertain significance	16	69693227	69693227	Human	1	name
405039669	CV2910695	single nucleotide variant	NM_138713.4(NFAT5):c.4237C>G (p.Gln1413Glu)	Immunodeficiency [RCV003591534]	uncertain significance	16	69694062	69694062	Human	1	name
405138891	CV2939958	single nucleotide variant	NM_138713.4(NFAT5):c.4232T>C (p.Met1411Thr)	Immunodeficiency [RCV003755067]	uncertain significance	16	69694057	69694057	Human	1	name
405139583	CV2944918	single nucleotide variant	NM_138713.4(NFAT5):c.3587A>G (p.Gln1196Arg)	Immunodeficiency [RCV003755140]	uncertain significance	16	69693412	69693412	Human	1	name
405141669	CV2964480	single nucleotide variant	NM_138713.4(NFAT5):c.3773C>T (p.Ala1258Val)	Immunodeficiency [RCV003755365]	uncertain significance	16	69693598	69693598	Human	1	name
405142809	CV2977566	single nucleotide variant	NM_138713.4(NFAT5):c.3703T>A (p.Ser1235Thr)	Immunodeficiency [RCV003755500]	uncertain significance	16	69693528	69693528	Human	1	name
405143673	CV2990316	single nucleotide variant	NM_138713.4(NFAT5):c.4063C>A (p.Gln1355Lys)	Immunodeficiency [RCV003755589]	uncertain significance	16	69693888	69693888	Human	1	name
405143806	CV2994472	single nucleotide variant	NM_138713.4(NFAT5):c.3586C>A (p.Gln1196Lys)	Immunodeficiency [RCV003755601]	uncertain significance	16	69693411	69693411	Human	1	name
405145723	CV3006126	single nucleotide variant	NM_138713.4(NFAT5):c.4633T>A (p.Leu1545Met)	Immunodeficiency [RCV003755816]	uncertain significance	16	69695354	69695354	Human	1	name
405145574	CV3015978	single nucleotide variant	NM_138713.4(NFAT5):c.3162T>G (p.Ser1054Arg)	Immunodeficiency [RCV003755800]	uncertain significance	16	69692987	69692987	Human	1	name
405148579	CV3041909	single nucleotide variant	NM_138713.4(NFAT5):c.3076A>G (p.Met1026Val)	Immunodeficiency [RCV003756073]	uncertain significance	16	69692901	69692901	Human	1	name
405149048	CV3042464	single nucleotide variant	NM_138713.4(NFAT5):c.3616A>G (p.Ile1206Val)	Immunodeficiency [RCV003756097]	uncertain significance	16	69693441	69693441	Human	1	name
405150228	CV3045407	single nucleotide variant	NM_138713.4(NFAT5):c.4070C>T (p.Pro1357Leu)	Immunodeficiency [RCV003756260]	uncertain significance	16	69693895	69693895	Human	1	name
405145919	CV3141757	single nucleotide variant	NM_138713.4(NFAT5):c.3475T>C (p.Phe1159Leu)	Immunodeficiency [RCV003839679]	uncertain significance	16	69693300	69693300	Human	1	name
405225272	CV3142331	single nucleotide variant	NM_138713.4(NFAT5):c.3058A>G (p.Asn1020Asp)	Immunodeficiency [RCV003847870]	uncertain significance	16	69692883	69692883	Human	1	name
405180062	CV3147426	single nucleotide variant	NM_138713.4(NFAT5):c.3809A>G (p.Gln1270Arg)	Immunodeficiency [RCV003842328]	uncertain significance	16	69693634	69693634	Human	1	name
405208066	CV3162402	single nucleotide variant	NM_138713.4(NFAT5):c.3221A>G (p.Gln1074Arg)	Immunodeficiency [RCV003861701]	uncertain significance	16	69693046	69693046	Human	1	name
405239332	CV3165890	single nucleotide variant	NM_138713.4(NFAT5):c.4213A>G (p.Ser1405Gly)	Immunodeficiency [RCV003866902]	uncertain significance	16	69694038	69694038	Human	1	name
402501538	CV3170569	single nucleotide variant	NM_138713.4(NFAT5):c.3400A>G (p.Met1134Val)	Immunodeficiency [RCV003877942]	uncertain significance	16	69693225	69693225	Human	1	name
405254107	CV3178704	single nucleotide variant	NM_138713.4(NFAT5):c.4545G>T (p.Glu1515Asp)	Immunodeficiency [RCV003871306]	uncertain significance	16	69695266	69695266	Human	1	name
402521998	CV3179574	single nucleotide variant	NM_138713.4(NFAT5):c.3611C>T (p.Ala1204Val)	Immunodeficiency [RCV003879826]	uncertain significance	16	69693436	69693436	Human	1	name
405698362	CV3350623	single nucleotide variant	NM_138713.4(NFAT5):c.3390G>T (p.Met1130Ile)	not specified [RCV004492024]	uncertain significance	16	69693215	69693215	Human		name
405698649	CV3350651	single nucleotide variant	NM_138713.4(NFAT5):c.3971A>G (p.Gln1324Arg)	not specified [RCV004492052]	uncertain significance	16	69693796	69693796	Human		name
405698873	CV3350689	single nucleotide variant	NM_138713.4(NFAT5):c.4459C>G (p.Gln1487Glu)	not specified [RCV004492090]	uncertain significance	16	69695180	69695180	Human		name
407526703	CV3451176	single nucleotide variant	NM_138713.4(NFAT5):c.3074C>G (p.Thr1025Ser)	not specified [RCV004654912]	uncertain significance	16	69692899	69692899	Human		name
597640610	CV3562839	single nucleotide variant	NM_138713.4(NFAT5):c.3260C>G (p.Ala1087Gly)	not specified [RCV004832150]	uncertain significance	16	69693085	69693085	Human		name
597640622	CV3562841	single nucleotide variant	NM_138713.4(NFAT5):c.4586T>C (p.Ile1529Thr)	not specified [RCV004832152]	uncertain significance	16	69695307	69695307	Human		name
597640629	CV3562842	single nucleotide variant	NM_138713.4(NFAT5):c.3674G>T (p.Gly1225Val)	not specified [RCV004832153]	uncertain significance	16	69693499	69693499	Human		name
597640683	CV3562851	single nucleotide variant	NM_138713.4(NFAT5):c.3891G>A (p.Met1297Ile)	Immunodeficiency [RCV005107624]\|not specified [RCV004832162]	uncertain significance	16	69693716	69693716	Human	1	name
597850666	CV3737259	single nucleotide variant	NM_138713.4(NFAT5):c.4309G>C (p.Ala1437Pro)	Immunodeficiency [RCV005066225]	uncertain significance	16	69694134	69694134	Human	1	name
597835547	CV3739700	single nucleotide variant	NM_138713.4(NFAT5):c.4298C>G (p.Pro1433Arg)	Immunodeficiency [RCV005063920]	uncertain significance	16	69694123	69694123	Human	1	name
597965620	CV3751215	single nucleotide variant	NM_138713.4(NFAT5):c.4403G>A (p.Gly1468Asp)	Immunodeficiency [RCV005082777]	uncertain significance	16	69694228	69694228	Human	1	name
597947333	CV3755551	single nucleotide variant	NM_138713.4(NFAT5):c.4547A>G (p.Asn1516Ser)	Immunodeficiency [RCV005078561]	uncertain significance	16	69695268	69695268	Human	1	name
597842998	CV3772001	single nucleotide variant	NM_138713.4(NFAT5):c.3515C>T (p.Thr1172Ile)	Immunodeficiency [RCV005118256]	uncertain significance	16	69693340	69693340	Human	1	name
597855265	CV3789719	single nucleotide variant	NM_138713.4(NFAT5):c.3634C>G (p.Pro1212Ala)	Immunodeficiency [RCV005129814]	uncertain significance	16	69693459	69693459	Human	1	name
597866229	CV3790648	single nucleotide variant	NM_138713.4(NFAT5):c.3083A>G (p.Gln1028Arg)	Immunodeficiency [RCV005140879]	uncertain significance	16	69692908	69692908	Human	1	name
597875459	CV3800136	single nucleotide variant	NM_138713.4(NFAT5):c.3421A>G (p.Ile1141Val)	Immunodeficiency [RCV005150616]	uncertain significance	16	69693246	69693246	Human	1	name
597860785	CV3800733	single nucleotide variant	NM_138713.4(NFAT5):c.3064G>A (p.Val1022Ile)	Immunodeficiency [RCV005135133]	uncertain significance	16	69692889	69692889	Human	1	name
597861058	CV3800960	single nucleotide variant	NM_138713.4(NFAT5):c.3727C>G (p.Gln1243Glu)	Immunodeficiency [RCV005135360]	uncertain significance	16	69693552	69693552	Human	1	name
597881245	CV3808757	single nucleotide variant	NM_138713.4(NFAT5):c.3092A>G (p.His1031Arg)	Immunodeficiency [RCV005156272]	uncertain significance	16	69692917	69692917	Human	1	name
597898792	CV3824466	single nucleotide variant	NM_138713.4(NFAT5):c.4643C>T (p.Ser1548Phe)	Immunodeficiency [RCV005173505]	uncertain significance	16	69695364	69695364	Human	1	name
597896671	CV3828936	single nucleotide variant	NM_138713.4(NFAT5):c.3655G>T (p.Ala1219Ser)	Immunodeficiency [RCV005171629]	uncertain significance	16	69693480	69693480	Human	1	name
597895691	CV3831337	single nucleotide variant	NM_138713.4(NFAT5):c.4100C>T (p.Thr1367Ile)	Immunodeficiency [RCV005170540]	uncertain significance	16	69693925	69693925	Human	1	name
597916718	CV3838240	single nucleotide variant	NM_138713.4(NFAT5):c.3338G>A (p.Ser1113Asn)	Immunodeficiency [RCV005191615]	uncertain significance	16	69693163	69693163	Human	1	name
597909654	CV3839985	single nucleotide variant	NM_138713.4(NFAT5):c.4079C>T (p.Thr1360Ile)	Immunodeficiency [RCV005184724]	uncertain significance	16	69693904	69693904	Human	1	name
597909225	CV3842793	single nucleotide variant	NM_138713.4(NFAT5):c.3133A>G (p.Thr1045Ala)	Immunodeficiency [RCV005184278]	uncertain significance	16	69692958	69692958	Human	1	name
597920174	CV3853385	single nucleotide variant	NM_138713.4(NFAT5):c.3712C>T (p.Pro1238Ser)	Immunodeficiency [RCV005195027]	uncertain significance	16	69693537	69693537	Human	1	name
597922333	CV3858391	single nucleotide variant	NM_138713.4(NFAT5):c.3590A>G (p.Gln1197Arg)	Immunodeficiency [RCV005197134]	uncertain significance	16	69693415	69693415	Human	1	name
597921576	CV3860781	single nucleotide variant	NM_138713.4(NFAT5):c.3322G>A (p.Gly1108Ser)	Immunodeficiency [RCV005196309]	uncertain significance	16	69693147	69693147	Human	1	name
598238026	CV3997578	single nucleotide variant	NM_138713.4(NFAT5):c.4481C>T (p.Pro1494Leu)	not specified [RCV005382683]	uncertain significance	16	69695202	69695202	Human		name
598191796	CV3997583	single nucleotide variant	NM_138713.4(NFAT5):c.3230A>G (p.Asn1077Ser)	not specified [RCV005374255]	uncertain significance	16	69693055	69693055	Human		name
13494792	CV465938	single nucleotide variant	NM_138713.4(NFAT5):c.3752A>G (p.Gln1251Arg)	Immunodeficiency [RCV000536659]\|NFAT5-related disorder [RCV003915487]\|not provided [RCV003409767]	benign\|likely benign	16	69693577	69693577	Human	7	name , trait , alternate_id
13494792	CV465938	single nucleotide variant	NM_138713.4(NFAT5):c.3752A>G (p.Gln1251Arg)	Immunodeficiency [RCV000536659]\|NFAT5-related disorder [RCV003915487]\|not provided [RCV003409767]	benign\|likely benign	16	69693577	69693578	Human	7	name , trait , alternate_id
13473542	CV466620	single nucleotide variant	NM_138713.4(NFAT5):c.4246C>T (p.Leu1416Phe)	Immunodeficiency [RCV000525428]	uncertain significance	16	69694071	69694071	Human	1	name
13613765	CV530179	single nucleotide variant	NM_138713.4(NFAT5):c.3630G>C (p.Gln1210His)	Immunodeficiency [RCV000631387]	uncertain significance	16	69693455	69693455	Human	1	name
13613770	CV530243	single nucleotide variant	NM_138713.4(NFAT5):c.3222A>C (p.Gln1074His)	Immunodeficiency [RCV000631390]	uncertain significance	16	69693047	69693047	Human	1	name
13613767	CV530251	single nucleotide variant	NM_138713.4(NFAT5):c.4006A>G (p.Met1336Val)	Immunodeficiency [RCV000631388]\|not specified [RCV004827779]	uncertain significance	16	69693831	69693831	Human	1	name
13613772	CV530714	single nucleotide variant	NM_138713.4(NFAT5):c.3155A>G (p.Gln1052Arg)	Immunodeficiency [RCV000631391]	uncertain significance	16	69692980	69692980	Human	1	name
13813540	CV570391	single nucleotide variant	NM_138713.4(NFAT5):c.4306C>G (p.Gln1436Glu)	Immunodeficiency [RCV000704431]	uncertain significance	16	69694131	69694131	Human	1	name
13805819	CV570449	single nucleotide variant	NM_138713.4(NFAT5):c.4336G>A (p.Gly1446Ser)	Immunodeficiency [RCV000685912]\|not specified [RCV004026216]	uncertain significance	16	69694161	69694161	Human	1	name
14717412	CV644910	single nucleotide variant	NM_138713.4(NFAT5):c.3158A>G (p.Asn1053Ser)	Immunodeficiency [RCV000811881]	uncertain significance	16	69692983	69692983	Human	1	name
14729156	CV644911	single nucleotide variant	NM_138713.4(NFAT5):c.3346C>T (p.Pro1116Ser)	Immunodeficiency [RCV000800362]	uncertain significance	16	69693171	69693171	Human	1	name
14715888	CV644912	single nucleotide variant	NM_138713.4(NFAT5):c.3349A>G (p.Ile1117Val)	Immunodeficiency [RCV000794941]\|not provided [RCV004692265]	uncertain significance	16	69693174	69693174	Human	1	name
14742083	CV644913	single nucleotide variant	NM_138713.4(NFAT5):c.3382G>A (p.Glu1128Lys)	Immunodeficiency [RCV000822573]	uncertain significance	16	69693207	69693207	Human	1	name
14712866	CV644914	single nucleotide variant	NM_138713.4(NFAT5):c.3652C>T (p.Gln1218Ter)	Immunodeficiency [RCV000793942]	uncertain significance	16	69693477	69693477	Human	1	name
14704269	CV644915	single nucleotide variant	NM_138713.4(NFAT5):c.3665C>T (p.Pro1222Leu)	Immunodeficiency [RCV000807707]\|NFAT5-related disorder [RCV003392614]\|not provided [RCV004693327]\|not specified [RCV004028624]	uncertain significance	16	69693490	69693490	Human	1	name , trait , alternate_id
14720459	CV644916	single nucleotide variant	NM_138713.4(NFAT5):c.4295C>T (p.Ser1432Leu)	Immunodeficiency [RCV000813040]	uncertain significance	16	69694120	69694120	Human	1	name
14729306	CV644917	single nucleotide variant	NM_138713.4(NFAT5):c.4392G>A (p.Met1464Ile)	Immunodeficiency [RCV000800426]	uncertain significance	16	69694217	69694217	Human	1	name
14737200	CV644918	single nucleotide variant	NM_138713.4(NFAT5):c.4399T>A (p.Phe1467Ile)	Immunodeficiency [RCV000803959]	uncertain significance	16	69694224	69694224	Human	1	name
14722724	CV644919	single nucleotide variant	NM_138713.4(NFAT5):c.4522C>T (p.Leu1508Phe)	Immunodeficiency [RCV000797665]	uncertain significance	16	69695243	69695243	Human	1	name
26922653	CV844206	single nucleotide variant	NM_138713.4(NFAT5):c.3243G>C (p.Gln1081His)	Immunodeficiency [RCV001062494]	uncertain significance	16	69693068	69693068	Human	1	name
26915456	CV844207	single nucleotide variant	NM_138713.4(NFAT5):c.3298C>G (p.Gln1100Glu)	Immunodeficiency [RCV001041359]\|not provided [RCV001726421]\|not specified [RCV004031246]	uncertain significance	16	69693123	69693123	Human	1	name
26887173	CV844209	single nucleotide variant	NM_138713.4(NFAT5):c.3892G>T (p.Ala1298Ser)	Immunodeficiency [RCV001066518]	uncertain significance	16	69693717	69693717	Human	1	name
26900338	CV844210	single nucleotide variant	NM_138713.4(NFAT5):c.3946A>G (p.Met1316Val)	Immunodeficiency [RCV001049527]	uncertain significance	16	69693771	69693771	Human	1	name
26891968	CV844211	single nucleotide variant	NM_138713.4(NFAT5):c.4040G>C (p.Ser1347Thr)	Immunodeficiency [RCV001046706]	uncertain significance	16	69693865	69693865	Human	1	name
26890118	CV844212	single nucleotide variant	NM_138713.4(NFAT5):c.4498G>A (p.Glu1500Lys)	Immunodeficiency [RCV001067725]	uncertain significance	16	69695219	69695219	Human	1	name
26920112	CV844213	single nucleotide variant	NM_138713.4(NFAT5):c.4573A>G (p.Thr1525Ala)	Immunodeficiency [RCV001059644]\|not specified [RCV004031890]	uncertain significance	16	69695294	69695294	Human	1	name
26889627	CV844214	single nucleotide variant	NM_138713.4(NFAT5):c.4622A>G (p.Gln1541Arg)	Immunodeficiency [RCV001045703]	uncertain significance	16	69695343	69695343	Human	1	name
38488437	CV937569	single nucleotide variant	NM_138713.4(NFAT5):c.3259G>T (p.Ala1087Ser)	Immunodeficiency [RCV001209748]	uncertain significance	16	69693084	69693084	Human	1	name
38490443	CV937570	single nucleotide variant	NM_138713.4(NFAT5):c.3924A>G (p.Ile1308Met)	Immunodeficiency [RCV001210658]	uncertain significance	16	69693749	69693749	Human	1	name
38456038	CV937571	single nucleotide variant	NM_138713.4(NFAT5):c.4085C>T (p.Ser1362Leu)	Immunodeficiency [RCV001210682]\|not specified [RCV004033800]	uncertain significance	16	69693910	69693910	Human	1	name
38480458	CV937572	single nucleotide variant	NM_138713.4(NFAT5):c.4513G>A (p.Val1505Met)	Immunodeficiency [RCV001206399]	uncertain significance	16	69695234	69695234	Human	1	name
38497631	CV949520	single nucleotide variant	NM_138713.4(NFAT5):c.3574T>C (p.Ser1192Pro)	Immunodeficiency [RCV001227210]	uncertain significance	16	69693399	69693399	Human	1	name
38468713	CV949521	single nucleotide variant	NM_138713.4(NFAT5):c.3917A>G (p.Asn1306Ser)	Immunodeficiency [RCV001230675]\|not specified [RCV005372606]	uncertain significance	16	69693742	69693742	Human	1	name
38479000	CV949522	single nucleotide variant	NM_138713.4(NFAT5):c.4216A>G (p.Ile1406Val)	Immunodeficiency [RCV001234129]	uncertain significance	16	69694041	69694041	Human	1	name
38495218	CV957852	single nucleotide variant	NM_138713.4(NFAT5):c.4523T>G (p.Leu1508Arg)	Immunodeficiency [RCV001241804]\|not specified [RCV004034693]	uncertain significance	16	69695244	69695244	Human	1	name
126729795	CV997090	single nucleotide variant	NM_138713.4(NFAT5):c.3048A>T (p.Lys1016Asn)	Immunodeficiency [RCV001303627]	uncertain significance	16	69692873	69692873	Human	1	name
126743332	CV997091	single nucleotide variant	NM_138713.4(NFAT5):c.3257A>G (p.Gln1086Arg)	Immunodeficiency [RCV001296174]	uncertain significance	16	69693082	69693082	Human	1	name
126767084	CV997092	single nucleotide variant	NM_138713.4(NFAT5):c.3662C>A (p.Pro1221His)	Immunodeficiency [RCV001302147]	uncertain significance	16	69693487	69693487	Human	1	name
126764872	CV997093	single nucleotide variant	NM_138713.4(NFAT5):c.4467G>A (p.Met1489Ile)	Immunodeficiency [RCV001301269]	uncertain significance	16	69695188	69695188	Human	1	name
126749967	CV997094	single nucleotide variant	NM_138713.4(NFAT5):c.4574C>T (p.Thr1525Ile)	Immunodeficiency [RCV001297236]	uncertain significance	16	69695295	69695295	Human	1	name
126915071	CV1049808	microsatellite	NM_138713.4(NFAT5):c.925_926del (p.Gln309fs)	Immunodeficiency [RCV001370702]	uncertain significance	16	69653345	69653346	Human		name
151727072	CV1408095	microsatellite	NM_138713.4(NFAT5):c.2268ACA[2] (p.Gln761del)	Immunodeficiency [RCV001891859]	uncertain significance	16	69692093	69692095	Human		name
151842270	CV1433155	microsatellite	NM_138713.4(NFAT5):c.1147ACT[1] (p.Thr384del)	Immunodeficiency [RCV001994899]	uncertain significance	16	69655750	69655752	Human		name
152064603	CV1652362	microsatellite	NM_138713.4(NFAT5):c.2694GCA[5] (p.Gln906del)	Immunodeficiency [RCV002090715]	likely benign	16	69692517	69692519	Human		name
405052096	CV2891590	microsatellite	NM_138713.4(NFAT5):c.2926CCT[1] (p.Pro977del)	Immunodeficiency [RCV003592951]	uncertain significance	16	69692749	69692751	Human		name
13820656	CV570389	microsatellite	NM_138713.4(NFAT5):c.2694GCA[7] (p.Gln906dup)	Immunodeficiency [RCV000702456]\|not provided [RCV003420253]	uncertain significance	16	69692516	69692517	Human		name
156302951	CV2079603	microsatellite	NM_138713.4(NFAT5):c.4241CTC[1] (p.Pro1415del)	Immunodeficiency [RCV002857263]	uncertain significance	16	69694066	69694068	Human		name
13482028	CV466670	microsatellite	NM_138713.4(NFAT5):c.3843ACA[2] (p.Gln1284del)	Immunodeficiency [RCV002527676]\|not provided [RCV003424090]	likely benign	16	69693666	69693668	Human		name
13473732	CV466617	deletion	NM_138713.4(NFAT5):c.2691_2693del (p.Gln906del)	Immunodeficiency [RCV000547932]\|NFAT5-related disorder [RCV003942736]	likely benign	16	69692514	69692516	Human	1	name , trait , alternate_id
38480666	CV927913	deletion	NM_138713.4(NFAT5):c.3046_3048del (p.Lys1016del)	Immunodeficiency [RCV001217644]	uncertain significance	16	69692870	69692872	Human	1	name
151885342	CV1350878	indel	NM_138713.4(NFAT5):c.903_904delinsAT (p.Ile302Leu)	Immunodeficiency [RCV001887336]	uncertain significance	16	69653326	69653327	Human		name
151866983	CV1481031	microsatellite	NM_138713.4(NFAT5):c.2694GCA[3] (p.Gln904_Gln906del)	Immunodeficiency [RCV001959949]	uncertain significance	16	69692517	69692525	Human		name
405151277	CV3068166	microsatellite	NM_138713.4(NFAT5):c.2694GCA[4] (p.Gln905_Gln906del)	Immunodeficiency [RCV003756356]	uncertain significance	16	69692517	69692522	Human		name
151726703	CV1387215	microsatellite	NM_138713.4(NFAT5):c.3804GCA[7] (p.Gln1283_Gln1284dup)	Immunodeficiency [RCV001910431]	uncertain significance	16	69693626	69693627	Human		name
405148868	CV3042682	microsatellite	NM_138713.4(NFAT5):c.3804GCA[3] (p.Gln1283_Gln1284del)	Immunodeficiency [RCV003756104]	uncertain significance	16	69693627	69693632	Human		name
156231092	CV2112088	deletion	NM_138713.4(NFAT5):c.3819_3839del (p.Gln1278_Gln1284del)	Immunodeficiency [RCV002918939]	uncertain significance	16	69693636	69693656	Human	1	name
26918630	CV844208	deletion	NM_138713.4(NFAT5):c.3837_3848del (p.Gln1281_Gln1284del)	Immunodeficiency [RCV001058115]	uncertain significance	16	69693660	69693671	Human	1	name
405149836	CV3051432	duplication	NM_138713.4(NFAT5):c.2712_2714dup (p.Gln906_Val907insGln)	Immunodeficiency [RCV003756225]	uncertain significance	16	69692534	69692535	Human	1	name
405178954	CV3147326	microsatellite	NM_138713.4(NFAT5):c.3843ACA[4] (p.Gln1284_Ser1285insGln)	Immunodeficiency [RCV003842228]	uncertain significance	16	69693665	69693666	Human		name
156296130	CV1955300	microsatellite	NM_138713.4(NFAT5):c.2694GCA[8] (p.Gln906_Val907insGlnGln)	Immunodeficiency [RCV002578017]\|NFAT5-related disorder [RCV003973433]	uncertain significance	16	69692516	69692517	Human		name , trait , alternate_id
151778752	CV1471175	microsatellite	NM_138713.4(NFAT5):c.3810GCAGCAGCAACA[1] (p.Gln1277_Gln1284del)	Immunodeficiency [RCV001971879]	uncertain significance	16	69693633	69693656	Human		name
13812161	CV570390	microsatellite	NM_138713.4(NFAT5):c.3810GCAGCAGCAACA[2] (p.Gln1281_Gln1284del)	Immunodeficiency [RCV000689253]	uncertain significance	16	69693633	69693644	Human		name
597867123	CV3802335	microsatellite	NM_138713.4(NFAT5):c.3804GCA[9] (p.Gln1284_Ser1285insGlnGlnGlnGln)	Immunodeficiency [RCV005141932]	uncertain significance	16	69693626	69693627	Human		name

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