Mcm4 Variant Search Result - Rat Genome Database

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661 records found for search term Mcm4

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11650042	CV309322	single nucleotide variant	NM_182746.3(MCM4):c.-48G>T	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000290850]	uncertain significance	8	47960981	47960981	Human	1	name
11609228	CV309332	single nucleotide variant	NM_182746.3(MCM4):c.*71C>A	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000365776]\|not provided [RCV004712594]	benign\|likely benign	8	47976849	47976849	Human	1	name
11607535	CV314578	single nucleotide variant	NM_182746.3(MCM4):c.-68G>T	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000344479]	uncertain significance	8	47960961	47960961	Human	1	name
11602289	CV314627	single nucleotide variant	NM_182746.3(MCM4):c.-74C>T	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000289770]\|not provided [RCV004696077]	uncertain significance	8	47960955	47960955	Human	1	name
11610678	CV314636	single nucleotide variant	NM_182746.3(MCM4):c.-65A>T	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000385053]	likely benign\|uncertain significance	8	47960964	47960964	Human	1	name
28872983	CV899697	single nucleotide variant	NM_182746.3(MCM4):c.-77G>A	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001164663]	uncertain significance	8	47960952	47960952	Human	1	name
28872984	CV899698	single nucleotide variant	NM_182746.3(MCM4):c.-33A>G	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001164664]\|not provided [RCV004695070]	uncertain significance	8	47960996	47960996	Human	1	name
28873414	CV899721	single nucleotide variant	NM_182746.3(MCM4):c.*37C>T	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001164874]	uncertain significance	8	47976815	47976815	Human	1	name
28908156	CV899722	single nucleotide variant	NM_182746.3(MCM4):c.*56G>A	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001159959]\|not provided [RCV004695023]	uncertain significance	8	47976834	47976834	Human	1	name
152044083	CV1584164	single nucleotide variant	NM_182746.3(MCM4):c.71-8G>C	not provided [RCV002071389]	likely benign	8	47961508	47961508	Human		name
405161487	CV2951346	single nucleotide variant	NM_182746.3(MCM4):c.71-6C>T	not provided [RCV003670760]	likely benign	8	47961510	47961510	Human		name
11652645	CV305423	duplication	NM_005914.3(MCM4):c.-721dup	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000306375]	uncertain significance	8	47960423	47960424	Human	1	name
11660295	CV305427	single nucleotide variant	NM_005914.3(MCM4):c.-701C>A	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000365824]	uncertain significance	8	47960444	47960444	Human	1	name
11603293	CV305429	single nucleotide variant	NM_005914.3(MCM4):c.-453T>C	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000298763]	uncertain significance	8	47960692	47960692	Human	1	name
11605356	CV305430	single nucleotide variant	NM_005914.3(MCM4):c.-372G>A	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000318503]	uncertain significance	8	47960773	47960773	Human	1	name
11661559	CV305431	single nucleotide variant	NM_005914.3(MCM4):c.-347C>A	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000377812]	uncertain significance	8	47960798	47960798	Human	1	name
11645319	CV305435	duplication	NM_005914.3(MCM4):c.-320dup	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000265004]	uncertain significance	8	47960818	47960819	Human	1	name
11605854	CV305436	single nucleotide variant	NM_005914.3(MCM4):c.-253C>T	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000324849]\|not provided [RCV004696076]	uncertain significance	8	47960892	47960892	Human	1	name
11646486	CV305469	single nucleotide variant	NM_182746.3(MCM4):c.*125A>G	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000271180]	uncertain significance	8	47976903	47976903	Human	1	name
11606524	CV305470	single nucleotide variant	NM_182746.3(MCM4):c.*358T>C	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000332718]\|not provided [RCV004712595]	benign\|likely benign	8	47977136	47977136	Human	1	name
11609900	CV305471	deletion	NM_182746.3(MCM4):c.*507del	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000374443]	benign	8	47977264	47977264	Human	1	name
11607115	CV305474	single nucleotide variant	NM_182746.3(MCM4):c.*871G>A	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000339612]	likely benign\|uncertain significance	8	47977649	47977649	Human	1	name
11604661	CV309318	single nucleotide variant	NM_005914.3(MCM4):c.-501A>G	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000311793]	uncertain significance	8	47960644	47960644	Human	1	name
11600742	CV309319	single nucleotide variant	NM_005914.3(MCM4):c.-473G>A	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000276450]	uncertain significance	8	47960672	47960672	Human	1	name
11599188	CV309320	single nucleotide variant	NM_005914.3(MCM4):c.-407G>A	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000263438]	uncertain significance	8	47960738	47960738	Human	1	name
11656098	CV309334	single nucleotide variant	NM_182746.3(MCM4):c.*213C>T	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000331019]	uncertain significance	8	47976991	47976991	Human	1	name
11647831	CV309336	single nucleotide variant	NM_182746.3(MCM4):c.*438A>G	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000278806]	uncertain significance	8	47977216	47977216	Human	1	name
11654663	CV309337	deletion	NM_182746.3(MCM4):c.*484del	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000319742]	uncertain significance	8	47977262	47977262	Human	1	name
11611416	CV309340	single nucleotide variant	NM_182746.3(MCM4):c.*877G>A	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000394351]	uncertain significance	8	47977655	47977655	Human	1	name
11601868	CV309347	single nucleotide variant	NM_182746.3(MCM4):c.*882G>A	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000286200]	uncertain significance	8	47977660	47977660	Human	1	name
11607638	CV309350	single nucleotide variant	NM_182746.3(MCM4):c.*955A>G	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000345847]	uncertain significance	8	47977733	47977733	Human	1	name
11607245	CV314561	single nucleotide variant	NM_005914.3(MCM4):c.-754G>A	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000341304]	uncertain significance	8	47960391	47960391	Human	1	name
11609639	CV314563	single nucleotide variant	NM_005914.3(MCM4):c.-479A>G	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000371174]	uncertain significance	8	47960666	47960666	Human	1	name
11608310	CV314574	single nucleotide variant	NM_005914.3(MCM4):c.-444A>C	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000353590]	benign	8	47960701	47960701	Human	1	name
11610293	CV314626	single nucleotide variant	NM_005914.3(MCM4):c.-205C>T	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000379508]	uncertain significance	8	47960940	47960940	Human	1	name
11609366	CV314657	single nucleotide variant	NM_182746.3(MCM4):c.*214G>A	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000367012]	benign\|likely benign	8	47976992	47976992	Human	1	name
11609815	CV314666	single nucleotide variant	NM_182746.3(MCM4):c.*387T>C	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000373327]	uncertain significance	8	47977165	47977165	Human	1	name
11601725	CV314670	single nucleotide variant	NM_182746.3(MCM4):c.*537T>C	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000284630]	uncertain significance	8	47977315	47977315	Human	1	name
11600907	CV314680	single nucleotide variant	NM_182746.3(MCM4):c.*255A>G	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000277734]	uncertain significance	8	47977033	47977033	Human	1	name
597914595	CV3848885	single nucleotide variant	NM_182746.3(MCM4):c.70+7C>T	not provided [RCV005189823]	likely benign	8	47961221	47961221	Human		name
8594773	CV45829	single nucleotide variant	NM_182746.3(MCM4):c.71-2A>G	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000030799]\|not provided [RCV001815171]	pathogenic	8	47961514	47961514	Human	1	name
28908159	CV899723	single nucleotide variant	NM_182746.3(MCM4):c.*109T>C	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001159960]	uncertain significance	8	47976887	47976887	Human	1	name
28908162	CV899724	single nucleotide variant	NM_182746.3(MCM4):c.*148A>G	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001159961]	benign	8	47976926	47976926	Human	1	name
28908165	CV899725	single nucleotide variant	NM_182746.3(MCM4):c.*197T>C	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001159962]\|not provided [RCV004712966]	benign	8	47976975	47976975	Human	1	name
28910367	CV899726	single nucleotide variant	NM_182746.3(MCM4):c.*315G>A	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001161366]	uncertain significance	8	47977093	47977093	Human	1	name
28910369	CV899727	single nucleotide variant	NM_182746.3(MCM4):c.*357A>C	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001161367]	uncertain significance	8	47977135	47977135	Human	1	name
28910371	CV899728	single nucleotide variant	NM_182746.3(MCM4):c.*443G>A	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001161368]	uncertain significance	8	47977221	47977221	Human	1	name
28910374	CV899729	single nucleotide variant	NM_182746.3(MCM4):c.*453A>G	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001161369]	uncertain significance	8	47977231	47977231	Human	1	name
28869090	CV899730	single nucleotide variant	NM_182746.3(MCM4):c.*819C>A	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001162913]	benign	8	47977597	47977597	Human	1	name
28869091	CV899731	single nucleotide variant	NM_182746.3(MCM4):c.*842G>A	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001162914]	uncertain significance	8	47977620	47977620	Human	1	name
28869092	CV899732	single nucleotide variant	NM_182746.3(MCM4):c.*850T>A	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001162915]	uncertain significance	8	47977628	47977628	Human	1	name
151866815	CV1358682	single nucleotide variant	NM_182746.3(MCM4):c.832+1G>A	not provided [RCV001939257]	uncertain significance	8	47964713	47964713	Human		name
152102264	CV1523878	single nucleotide variant	NM_182746.3(MCM4):c.71-16T>C	not provided [RCV002133420]	likely benign	8	47961500	47961500	Human		name
152148924	CV1545298	single nucleotide variant	NM_182746.3(MCM4):c.502-4A>G	not provided [RCV002121471]	likely benign	8	47962760	47962760	Human		name
152160933	CV1598817	single nucleotide variant	NM_182746.3(MCM4):c.70+11C>T	not provided [RCV002140909]	likely benign	8	47961225	47961225	Human		name
152083255	CV1655077	single nucleotide variant	NM_182746.3(MCM4):c.70+12G>C	not provided [RCV002113044]	likely benign	8	47961226	47961226	Human		name
152054330	CV1665416	single nucleotide variant	NM_182746.3(MCM4):c.235+7G>A	not provided [RCV002089523]	likely benign	8	47961687	47961687	Human		name
156361508	CV1881226	single nucleotide variant	NM_182746.3(MCM4):c.235+4C>T	not provided [RCV003065647]	uncertain significance	8	47961684	47961684	Human		name
156161455	CV1977818	single nucleotide variant	NM_182746.3(MCM4):c.71-19C>T	not provided [RCV002594482]	likely benign	8	47961497	47961497	Human		name
156380744	CV1978598	single nucleotide variant	NM_182746.3(MCM4):c.399+5G>A	not provided [RCV002603947]	uncertain significance	8	47962221	47962221	Human		name
156405592	CV1994482	single nucleotide variant	NM_182746.3(MCM4):c.70+18G>A	not provided [RCV002658345]	likely benign	8	47961232	47961232	Human		name
155988418	CV2151061	single nucleotide variant	NM_182746.3(MCM4):c.502-8A>T	not provided [RCV003016706]	likely benign	8	47962756	47962756	Human		name
156149000	CV2175222	single nucleotide variant	NM_182746.3(MCM4):c.502-6T>C	not provided [RCV003040306]	likely benign	8	47962758	47962758	Human		name
401924000	CV2821078	single nucleotide variant	NM_182746.3(MCM4):c.71-94C>T	not provided [RCV003435486]	benign	8	47961422	47961422	Human		name
405184637	CV2920474	single nucleotide variant	NM_182746.3(MCM4):c.400-6G>C	not provided [RCV003564337]	likely benign	8	47962299	47962299	Human		name
405037573	CV2932978	single nucleotide variant	NM_182746.3(MCM4):c.70+14G>A	not provided [RCV003578850]	likely benign	8	47961228	47961228	Human		name
405199010	CV2973059	single nucleotide variant	NM_182746.3(MCM4):c.235+7G>T	not provided [RCV003677914]	likely benign	8	47961687	47961687	Human		name
402483569	CV3036697	single nucleotide variant	NM_182746.3(MCM4):c.598-8T>C	not provided [RCV003713088]	likely benign	8	47962937	47962937	Human		name
11603117	CV305442	single nucleotide variant	NM_182746.3(MCM4):c.236-4A>G	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000297043]\|not provided [RCV000888517]	benign\|likely benign	8	47962049	47962049	Human	1	name
11611803	CV305475	single nucleotide variant	NM_182746.3(MCM4):c.*1134A>C	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000399981]	uncertain significance	8	47977912	47977912	Human	1	name
11663070	CV309317	deletion	NM_005914.3(MCM4):c.-646delG	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000392213]	uncertain significance	8	47960494	47960494	Human	1	name
11609209	CV309351	deletion	NM_182746.3(MCM4):c.*1305del	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000365511]	likely benign	8	47978083	47978083	Human	1	name
11604605	CV314682	single nucleotide variant	NM_182746.3(MCM4):c.*1256A>G	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000310848]	benign\|likely benign	8	47978034	47978034	Human	1	name
597929823	CV3742124	single nucleotide variant	NM_182746.3(MCM4):c.502-9C>T	not provided [RCV005075756]	likely benign	8	47962755	47962755	Human		name
597868119	CV3790777	duplication	NM_182746.3(MCM4):c.598-5dup	not provided [RCV005142992]	benign	8	47962936	47962937	Human		name
597886055	CV3807375	single nucleotide variant	NM_182746.3(MCM4):c.400-4G>A	not provided [RCV005160010]	likely benign	8	47962301	47962301	Human		name
597900977	CV3823293	single nucleotide variant	NM_182746.3(MCM4):c.235+6T>A	not provided [RCV005175643]	uncertain significance	8	47961686	47961686	Human		name
597890192	CV3830573	duplication	NM_182746.3(MCM4):c.70+11dup	not provided [RCV005164713]	benign	8	47961220	47961221	Human		name
597929635	CV3850701	deletion	NM_182746.3(MCM4):c.236-5del	not provided [RCV005203849]	benign	8	47962044	47962044	Human		name
13535544	CV496930	single nucleotide variant	NM_182746.3(MCM4):c.832+2T>C	not specified [RCV000602420]	pathogenic\|uncertain significance	8	47964714	47964714	Human		name
28873629	CV899733	single nucleotide variant	NM_182746.3(MCM4):c.*1140G>A	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001164988]	uncertain significance	8	47977918	47977918	Human	1	name
28873632	CV899734	single nucleotide variant	NM_182746.3(MCM4):c.*1234T>C	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001164989]	uncertain significance	8	47978012	47978012	Human	1	name
28873634	CV899735	single nucleotide variant	NM_182746.3(MCM4):c.*1266G>A	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001164990]	uncertain significance	8	47978044	47978044	Human	1	name
28910093	CV900504	single nucleotide variant	NM_182746.3(MCM4):c.235+4C>G	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001161142]	uncertain significance	8	47961684	47961684	Human	1	name
28910097	CV900505	single nucleotide variant	NM_182746.3(MCM4):c.502-8A>G	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001161145]	uncertain significance	8	47962756	47962756	Human	1	name
28868780	CV900506	single nucleotide variant	NM_182746.3(MCM4):c.693+7A>G	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001162704]\|not provided [RCV002559555]	likely benign\|uncertain significance	8	47963047	47963047	Human	1	name
126737590	CV1020496	single nucleotide variant	NM_182746.3(MCM4):c.1054-1G>A	Natural killer cell and glucocorticoid deficiency with DNA repair defect [RCV001335337]	pathogenic	8	47967364	47967364	Human		name
127244707	CV1097131	single nucleotide variant	NM_182746.3(MCM4):c.235+17C>G	not provided [RCV001424146]	likely benign	8	47961697	47961697	Human		name
127293234	CV1155986	deletion	NM_182746.3(MCM4):c.1435-7del	not provided [RCV001511245]	benign	8	47970503	47970503	Human		name
151801380	CV1369384	single nucleotide variant	NM_182746.3(MCM4):c.1800+5G>T	not provided [RCV002028120]	uncertain significance	8	47970881	47970881	Human		name
151817842	CV1385036	single nucleotide variant	NM_182746.3(MCM4):c.1175-3C>T	not provided [RCV001992477]	uncertain significance	8	47969795	47969795	Human		name
151718721	CV1397378	single nucleotide variant	NM_182746.3(MCM4):c.1800+3G>A	not provided [RCV001982717]	uncertain significance	8	47970879	47970879	Human		name
151724316	CV1500458	single nucleotide variant	NM_182746.3(MCM4):c.2365+1G>A	not provided [RCV001910144]	uncertain significance	8	47974963	47974963	Human		name
152164576	CV1543545	single nucleotide variant	NM_182746.3(MCM4):c.400-19G>A	not provided [RCV002123828]	likely benign	8	47962286	47962286	Human		name
152161976	CV1543844	single nucleotide variant	NM_182746.3(MCM4):c.1929-7T>G	not provided [RCV002159799]	likely benign	8	47972850	47972850	Human		name
152043576	CV1551963	single nucleotide variant	NM_182746.3(MCM4):c.1174+7G>A	not provided [RCV002166007]	likely benign	8	47967492	47967492	Human		name
152066952	CV1557131	deletion	NM_182746.3(MCM4):c.597+13del	not provided [RCV002191289]	likely benign	8	47962872	47962872	Human		name
152170489	CV1578110	single nucleotide variant	NM_182746.3(MCM4):c.1929-9T>C	not provided [RCV002183168]	likely benign	8	47972848	47972848	Human		name
152137456	CV1580419	single nucleotide variant	NM_182746.3(MCM4):c.693+15T>C	not provided [RCV002156319]	likely benign	8	47963055	47963055	Human		name
152128122	CV1581287	single nucleotide variant	NM_182746.3(MCM4):c.235+17C>A	not provided [RCV002099110]	likely benign	8	47961697	47961697	Human		name
152113017	CV1585845	single nucleotide variant	NM_182746.3(MCM4):c.236-16A>G	not provided [RCV002153305]	likely benign	8	47962037	47962037	Human		name
152046412	CV1591245	single nucleotide variant	NM_182746.3(MCM4):c.501+11T>C	not provided [RCV002188875]	likely benign	8	47962417	47962417	Human		name
152151318	CV1598269	single nucleotide variant	NM_182746.3(MCM4):c.400-11T>C	not provided [RCV002121783]	likely benign	8	47962294	47962294	Human		name
152131731	CV1604612	single nucleotide variant	NM_182746.3(MCM4):c.833-19C>T	not provided [RCV002099581]	likely benign	8	47966168	47966168	Human		name
152105275	CV1614648	single nucleotide variant	NM_182746.3(MCM4):c.399+11A>C	not provided [RCV002079521]	likely benign	8	47962227	47962227	Human		name
152114766	CV1628110	single nucleotide variant	NM_182746.3(MCM4):c.833-15C>T	not provided [RCV002197250]	likely benign	8	47966172	47966172	Human		name
152157844	CV1630636	deletion	NM_182746.3(MCM4):c.2366-8del	not provided [RCV002122678]	benign	8	47975703	47975703	Human		name
152175359	CV1663384	single nucleotide variant	NM_182746.3(MCM4):c.1801-9C>T	not provided [RCV002163490]	likely benign	8	47971332	47971332	Human		name
156152566	CV1896055	single nucleotide variant	NM_182746.3(MCM4):c.2137-5A>G	not provided [RCV003082601]	likely benign	8	47974729	47974729	Human		name
156169352	CV1956180	single nucleotide variant	NM_182746.3(MCM4):c.235+15A>G	not provided [RCV002573764]	likely benign\|uncertain significance	8	47961695	47961695	Human		name
156374151	CV1963231	single nucleotide variant	NM_182746.3(MCM4):c.236-20T>C	not provided [RCV002582658]	likely benign	8	47962033	47962033	Human		name
156325355	CV1972660	single nucleotide variant	NM_182746.3(MCM4):c.694-19T>C	not provided [RCV002600494]	likely benign	8	47964555	47964555	Human		name
156322143	CV1976207	single nucleotide variant	NM_182746.3(MCM4):c.400-16A>G	not provided [RCV002600303]	likely benign	8	47962289	47962289	Human		name
156416343	CV1976537	single nucleotide variant	NM_182746.3(MCM4):c.400-15T>C	not provided [RCV002589645]	likely benign	8	47962290	47962290	Human		name
156385709	CV1998061	single nucleotide variant	NM_182746.3(MCM4):c.693+19C>T	not provided [RCV002653976]	likely benign	8	47963059	47963059	Human		name
156224161	CV2009352	single nucleotide variant	NM_182746.3(MCM4):c.2136+9G>C	not provided [RCV002701119]	likely benign	8	47973073	47973073	Human		name
156213422	CV2028527	single nucleotide variant	NM_182746.3(MCM4):c.832+14C>T	not provided [RCV002711854]	likely benign	8	47964726	47964726	Human		name
156076988	CV2053499	single nucleotide variant	NM_182746.3(MCM4):c.598-15A>G	not provided [RCV002823732]	likely benign	8	47962930	47962930	Human		name
155943383	CV2064576	single nucleotide variant	NM_182746.3(MCM4):c.1053+1G>T	not provided [RCV002839558]	uncertain significance	8	47966408	47966408	Human		name
156118644	CV2115844	single nucleotide variant	NM_182746.3(MCM4):c.1174+5G>A	not provided [RCV002927723]	uncertain significance	8	47967490	47967490	Human		name
156220447	CV2124335	single nucleotide variant	NM_182746.3(MCM4):c.597+12C>A	not provided [RCV002958120]	likely benign	8	47962871	47962871	Human		name
156106902	CV2149472	single nucleotide variant	NM_182746.3(MCM4):c.598-11T>C	not provided [RCV003021251]	likely benign	8	47962934	47962934	Human		name
156337756	CV2190223	single nucleotide variant	NM_182746.3(MCM4):c.1175-8G>A	not provided [RCV003064063]	likely benign	8	47969790	47969790	Human		name
402521445	CV2940168	single nucleotide variant	NM_182746.3(MCM4):c.694-16A>G	not provided [RCV003663336]	likely benign	8	47964558	47964558	Human		name
405169057	CV2951105	single nucleotide variant	NM_182746.3(MCM4):c.832+16T>C	not provided [RCV003675268]	likely benign	8	47964728	47964728	Human		name
405238333	CV2970099	single nucleotide variant	NM_182746.3(MCM4):c.235+14G>C	not provided [RCV003683426]	likely benign	8	47961694	47961694	Human		name
405228538	CV2973721	single nucleotide variant	NM_182746.3(MCM4):c.694-14A>G	not provided [RCV003681857]	likely benign	8	47964560	47964560	Human		name
405176593	CV3023809	single nucleotide variant	NM_182746.3(MCM4):c.597+16T>C	not provided [RCV003705146]	likely benign	8	47962875	47962875	Human		name
11658634	CV309323	single nucleotide variant	NM_182746.3(MCM4):c.-14-50G>A	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000350447]	uncertain significance	8	47961081	47961081	Human	1	name
11611987	CV309324	single nucleotide variant	NM_182746.3(MCM4):c.-14-41C>T	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000402170]	benign\|likely benign	8	47961090	47961090	Human	1	name
405140391	CV3125560	single nucleotide variant	NM_182746.3(MCM4):c.693+17G>A	not provided [RCV003816667]	likely benign	8	47963057	47963057	Human		name
405134152	CV3133885	single nucleotide variant	NM_182746.3(MCM4):c.1800+7C>T	not provided [RCV003838664]	likely benign	8	47970883	47970883	Human		name
405213674	CV3143026	single nucleotide variant	NM_182746.3(MCM4):c.598-13T>A	not provided [RCV003846189]	likely benign	8	47962932	47962932	Human		name
11610492	CV314645	single nucleotide variant	NM_182746.3(MCM4):c.833-14T>C	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000382568]\|not provided [RCV002058737]	benign\|likely benign\|uncertain significance	8	47966173	47966173	Human	1	name
11601111	CV314646	single nucleotide variant	NM_182746.3(MCM4):c.1175-7C>T	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000279753]\|not provided [RCV000937226]	likely benign\|uncertain significance	8	47969791	47969791	Human	1	name
597870058	CV3749841	single nucleotide variant	NM_182746.3(MCM4):c.694-13T>C	not provided [RCV005068522]	likely benign	8	47964561	47964561	Human		name
597963873	CV3754222	single nucleotide variant	NM_182746.3(MCM4):c.502-20A>G	not provided [RCV005082329]	likely benign	8	47962744	47962744	Human		name
597884910	CV3812512	deletion	NM_182746.3(MCM4):c.598-19del	not provided [RCV005159722]	likely benign	8	47962926	47962926	Human		name
597897689	CV3827377	single nucleotide variant	NM_182746.3(MCM4):c.2365+8A>G	not provided [RCV005172648]	likely benign	8	47974970	47974970	Human		name
597890176	CV3830600	single nucleotide variant	NM_182746.3(MCM4):c.2500-5C>T	not provided [RCV005164740]	likely benign	8	47976681	47976681	Human		name
597908300	CV3833894	single nucleotide variant	NM_182746.3(MCM4):c.235+20G>A	not provided [RCV005183253]	likely benign	8	47961700	47961700	Human		name
598128484	CV3887688	single nucleotide variant	NM_182746.3(MCM4):c.1053+5G>A	not provided [RCV005243862]	uncertain significance	8	47966412	47966412	Human		name
13519974	CV490685	single nucleotide variant	NM_182746.3(MCM4):c.1800+8G>A	not provided [RCV000598279]	conflicting interpretations of pathogenicity\|uncertain significance	8	47970884	47970884	Human		name
15177459	CV730581	single nucleotide variant	NM_182746.3(MCM4):c.1053+4C>T	MCM4-related disorder [RCV003940509]\|Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001164761]\|not provided [RCV000884827]	benign	8	47966411	47966411	Human	1	name , trait , alternate_id
15180967	CV730582	single nucleotide variant	NM_182746.3(MCM4):c.2365+4C>T	MCM4-related disorder [RCV003940531]\|Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001164872]\|not provided [RCV000885655]	benign\|likely benign	8	47974966	47974966	Human	1	name , trait , alternate_id
15154487	CV759737	single nucleotide variant	NM_182746.3(MCM4):c.2500-7C>T	not provided [RCV000924269]	likely benign	8	47976679	47976679	Human		name
15174731	CV779402	single nucleotide variant	NM_182746.3(MCM4):c.598-10T>C	MCM4-related disorder [RCV003972940]\|not provided [RCV000972779]	benign\|likely benign	8	47962935	47962935	Human	1	name , trait , alternate_id
15130027	CV787583	single nucleotide variant	NM_182746.3(MCM4):c.501+10A>C	not provided [RCV000980976]	likely benign	8	47962416	47962416	Human		name
28872986	CV899699	single nucleotide variant	NM_182746.3(MCM4):c.-15+55C>T	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001164665]	uncertain significance	8	47961069	47961069	Human	1	name
28907797	CV899700	single nucleotide variant	NM_182746.3(MCM4):c.-14-39G>A	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001159740]	uncertain significance	8	47961092	47961092	Human	1	name
28910246	CV900507	single nucleotide variant	NM_182746.3(MCM4):c.1929-6T>C	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001161254]\|not provided [RCV002070998]	benign\|likely benign	8	47972851	47972851	Human	1	name
127301118	CV1139555	single nucleotide variant	NM_182746.3(MCM4):c.1434+12T>C	not provided [RCV001498738]	likely benign	8	47970069	47970069	Human		name
127305632	CV1155985	single nucleotide variant	NM_182746.3(MCM4):c.1174+20C>T	not provided [RCV001516340]	benign	8	47967505	47967505	Human		name
151790475	CV1394379	single nucleotide variant	NM_182746.3(MCM4):c.2499+11A>G	not provided [RCV002047052]	likely benign\|uncertain significance	8	47975859	47975859	Human		name
152083428	CV1526358	single nucleotide variant	NM_182746.3(MCM4):c.1800+19C>T	not provided [RCV002170845]	likely benign	8	47970895	47970895	Human		name
152060870	CV1559264	single nucleotide variant	NM_182746.3(MCM4):c.1053+12C>T	not provided [RCV002167985]	likely benign	8	47966419	47966419	Human		name
152145223	CV1582635	single nucleotide variant	NM_182746.3(MCM4):c.1800+20G>A	not provided [RCV002201136]	benign	8	47970896	47970896	Human		name
152146365	CV1590456	microsatellite	NM_182746.3(MCM4):c.71-13TG[2]	not provided [RCV002220109]	likely benign	8	47961503	47961504	Human		name
152045893	CV1591149	deletion	NM_182746.3(MCM4):c.1928+19del	not provided [RCV002188825]	likely benign	8	47971487	47971487	Human		name
152111922	CV1640473	single nucleotide variant	NM_182746.3(MCM4):c.2136+20G>C	not provided [RCV002174445]	likely benign	8	47973084	47973084	Human		name
156115725	CV1982485	single nucleotide variant	NM_182746.3(MCM4):c.1054-19T>C	not provided [RCV002622750]	likely benign	8	47967346	47967346	Human		name
156290324	CV2001812	single nucleotide variant	NM_182746.3(MCM4):c.1434+19C>G	not provided [RCV002670740]	likely benign	8	47970076	47970076	Human		name
156270394	CV2004091	single nucleotide variant	NM_182746.3(MCM4):c.2366-20T>C	not provided [RCV002646512]	likely benign	8	47975695	47975695	Human		name
156027694	CV2004706	single nucleotide variant	NM_182746.3(MCM4):c.1053+19C>G	not provided [RCV002658526]	likely benign	8	47966426	47966426	Human		name
156022036	CV2040715	single nucleotide variant	NM_182746.3(MCM4):c.1800+17A>G	not provided [RCV002795633]	likely benign	8	47970893	47970893	Human		name
156135523	CV2097333	single nucleotide variant	NM_182746.3(MCM4):c.1053+17G>A	not provided [RCV002890109]	likely benign	8	47966424	47966424	Human		name
156135981	CV2097357	single nucleotide variant	NM_182746.3(MCM4):c.2499+14T>C	not provided [RCV002890125]	likely benign	8	47975862	47975862	Human		name
156017029	CV2114531	single nucleotide variant	NM_182746.3(MCM4):c.2366-20T>A	not provided [RCV002909421]	likely benign	8	47975695	47975695	Human		name
156102421	CV2149180	single nucleotide variant	NM_182746.3(MCM4):c.2366-12T>C	not provided [RCV003021096]	likely benign	8	47975703	47975703	Human		name
155968576	CV2152376	single nucleotide variant	NM_182746.3(MCM4):c.1929-16T>C	not provided [RCV003015823]	likely benign	8	47972841	47972841	Human		name
156185871	CV2178654	single nucleotide variant	NM_182746.3(MCM4):c.1175-20T>G	not provided [RCV003057675]	uncertain significance	8	47969778	47969778	Human		name
155965060	CV2179980	single nucleotide variant	NM_182746.3(MCM4):c.2366-14T>C	not provided [RCV003033126]	likely benign	8	47975701	47975701	Human		name
402490450	CV2984716	single nucleotide variant	NM_182746.3(MCM4):c.2366-13C>T	not provided [RCV003713723]	likely benign	8	47975702	47975702	Human		name
405077033	CV3140855	single nucleotide variant	NM_182746.3(MCM4):c.2499+10T>G	not provided [RCV003833818]	likely benign	8	47975858	47975858	Human		name
405221499	CV3157912	single nucleotide variant	NM_182746.3(MCM4):c.2500-11C>T	not provided [RCV003863604]	likely benign	8	47976675	47976675	Human		name
405196378	CV3168144	single nucleotide variant	NM_182746.3(MCM4):c.1434+20T>G	not provided [RCV003860276]	likely benign	8	47970077	47970077	Human		name
597888801	CV3809115	single nucleotide variant	NM_182746.3(MCM4):c.2499+12T>C	not provided [RCV005164017]	likely benign	8	47975860	47975860	Human		name
597876857	CV3810449	single nucleotide variant	NM_182746.3(MCM4):c.1929-19T>C	not provided [RCV005151974]	likely benign	8	47972838	47972838	Human		name
597901167	CV3834417	single nucleotide variant	NM_182746.3(MCM4):c.2365+14A>G	not provided [RCV005175784]	uncertain significance	8	47974976	47974976	Human		name
597924745	CV3858143	single nucleotide variant	NM_182746.3(MCM4):c.1053+17G>C	not provided [RCV005199571]	likely benign	8	47966424	47966424	Human		name
151742410	CV1431619	deletion	NM_182746.3(MCM4):c.-14-3_70+1del	not provided [RCV001926593]	uncertain significance	8	47961124	47961211	Human		name
11611919	CV314562	deletion	NM_005914.3(MCM4):c.-745_-744delAA	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000401390]	uncertain significance	8	47960400	47960401	Human	1	name
597968750	CV3761148	single nucleotide variant	NM_182746.3(MCM4):c.15G>C (p.Ala5=)	not provided [RCV005083535]	likely benign	8	47961159	47961159	Human		name
152032049	CV1624655	single nucleotide variant	NM_182746.3(MCM4):c.33C>T (p.Arg11=)	not provided [RCV002186821]	likely benign	8	47961177	47961177	Human		name
155945809	CV2072617	single nucleotide variant	NM_182746.3(MCM4):c.51G>A (p.Arg17=)	not provided [RCV002862057]	likely benign	8	47961195	47961195	Human		name
405162489	CV2951327	single nucleotide variant	NM_182746.3(MCM4):c.60C>T (p.Pro20=)	MCM4-related disorder [RCV003966553]\|not provided [RCV003670746]	likely benign	8	47961204	47961204	Human	1	name , trait , alternate_id
405221149	CV3032290	single nucleotide variant	NM_182746.3(MCM4):c.48A>G (p.Gly16=)	not provided [RCV003709985]	likely benign	8	47961192	47961192	Human		name
12849015	CV363719	single nucleotide variant	NM_182746.3(MCM4):c.5C>G (p.Ser2Trp)	not provided [RCV000422648]\|not specified [RCV004935145]	uncertain significance	8	47961149	47961149	Human		name
597864516	CV3794920	single nucleotide variant	NM_182746.3(MCM4):c.36C>A (p.Gly12=)	not provided [RCV005138825]	likely benign	8	47961180	47961180	Human		name
597860953	CV3800861	single nucleotide variant	NM_182746.3(MCM4):c.87C>T (p.Ala29=)	not provided [RCV005135261]	likely benign	8	47961532	47961532	Human		name
28907800	CV899701	single nucleotide variant	NM_182746.3(MCM4):c.99C>T (p.Pro33=)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001159741]\|not provided [RCV003727924]	likely benign\|uncertain significance	8	47961544	47961544	Human	1	name
151877919	CV1493529	single nucleotide variant	NM_182746.3(MCM4):c.135G>A (p.Thr45=)	not provided [RCV001982139]	likely benign\|uncertain significance	8	47961580	47961580	Human		name
152075560	CV1523372	single nucleotide variant	NM_182746.3(MCM4):c.129C>T (p.Thr43=)	not provided [RCV002169865]	likely benign	8	47961574	47961574	Human		name
152031053	CV1593359	single nucleotide variant	NM_182746.3(MCM4):c.261T>C (p.Ser87=)	not provided [RCV002106069]	likely benign	8	47962078	47962078	Human		name
156381927	CV1960916	single nucleotide variant	NM_182746.3(MCM4):c.25A>C (p.Ser9Arg)	not provided [RCV002583235]\|not specified [RCV004935265]	uncertain significance	8	47961169	47961169	Human		name
156370133	CV2031031	single nucleotide variant	NM_182746.3(MCM4):c.222A>G (p.Gln74=)	not provided [RCV002721456]	likely benign	8	47961667	47961667	Human		name
402479237	CV2990823	single nucleotide variant	NM_182746.3(MCM4):c.10C>G (p.Pro4Ala)	not provided [RCV003686422]	uncertain significance	8	47961154	47961154	Human		name
405169052	CV3122370	single nucleotide variant	NM_182746.3(MCM4):c.276C>T (p.Tyr92=)	MCM4-related disorder [RCV003966686]\|not provided [RCV003818959]	likely benign	8	47962093	47962093	Human	1	name , trait , alternate_id
11604978	CV314637	single nucleotide variant	NM_182746.3(MCM4):c.159C>T (p.Thr53=)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000314533]\|not provided [RCV003678998]	likely benign\|uncertain significance	8	47961604	47961604	Human	1	name
597860059	CV3779528	single nucleotide variant	NM_182746.3(MCM4):c.252T>C (p.Phe84=)	not provided [RCV005134492]	likely benign	8	47962069	47962069	Human		name
597899900	CV3822403	single nucleotide variant	NM_182746.3(MCM4):c.142T>C (p.Leu48=)	not provided [RCV005174701]	likely benign	8	47961587	47961587	Human		name
15117196	CV766854	single nucleotide variant	NM_182746.3(MCM4):c.141G>A (p.Glu47=)	not provided [RCV000939793]	likely benign	8	47961586	47961586	Human		name
28910095	CV899703	single nucleotide variant	NM_182746.3(MCM4):c.240C>T (p.Ile80=)	MCM4-related disorder [RCV003953545]\|Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001161143]\|not provided [RCV002070995]	likely benign\|uncertain significance	8	47962057	47962057	Human	1	name , trait , alternate_id
126775022	CV1028602	single nucleotide variant	NM_182746.3(MCM4):c.98C>T (p.Pro33Leu)	not provided [RCV001347900]	uncertain significance	8	47961543	47961543	Human		name
126922739	CV1045575	single nucleotide variant	NM_182746.3(MCM4):c.89G>A (p.Arg30Lys)	not provided [RCV001365024]	uncertain significance	8	47961534	47961534	Human		name
150520780	CV1289901	single nucleotide variant	NM_182746.3(MCM4):c.714C>T (p.Asp238=)	not provided [RCV001730276]	likely benign	8	47964594	47964594	Human		name
151827065	CV1396299	single nucleotide variant	NM_182746.3(MCM4):c.29G>T (p.Arg10Leu)	not provided [RCV001934685]	uncertain significance	8	47961173	47961173	Human		name
151889244	CV1398743	single nucleotide variant	NM_182746.3(MCM4):c.61G>A (p.Ala21Thr)	not provided [RCV001942760]	uncertain significance	8	47961205	47961205	Human		name
151822953	CV1448357	single nucleotide variant	NM_182746.3(MCM4):c.77G>A (p.Ser26Asn)	not provided [RCV001934322]	uncertain significance	8	47961522	47961522	Human		name
151812486	CV1516019	single nucleotide variant	NM_182746.3(MCM4):c.71C>T (p.Pro24Leu)	not provided [RCV002012579]	uncertain significance	8	47961516	47961516	Human		name
152132808	CV1545217	single nucleotide variant	NM_182746.3(MCM4):c.529C>T (p.Leu177=)	not provided [RCV002119308]	likely benign	8	47962791	47962791	Human		name
152111090	CV1564168	single nucleotide variant	NM_182746.3(MCM4):c.396C>T (p.Asp132=)	not provided [RCV002174342]	likely benign	8	47962213	47962213	Human		name
152130033	CV1584412	single nucleotide variant	NM_182746.3(MCM4):c.795A>G (p.Ala265=)	not provided [RCV002082739]	likely benign	8	47964675	47964675	Human		name
152061017	CV1597141	single nucleotide variant	NM_182746.3(MCM4):c.393T>C (p.Ser131=)	not provided [RCV002208651]	likely benign	8	47962210	47962210	Human		name
152135177	CV1613497	single nucleotide variant	NM_182746.3(MCM4):c.552T>C (p.Val184=)	not provided [RCV002156044]	likely benign	8	47962814	47962814	Human		name
152157468	CV1615931	deletion	NM_182746.3(MCM4):c.1054-15_1054-12del	not provided [RCV002159035]	likely benign	8	47967348	47967351	Human		name
152148302	CV1653924	single nucleotide variant	NM_182746.3(MCM4):c.786A>G (p.Pro262=)	not provided [RCV002139135]	likely benign	8	47964666	47964666	Human		name
155743861	CV1777567	single nucleotide variant	NM_182746.3(MCM4):c.55A>C (p.Thr19Pro)	not provided [RCV002303040]	uncertain significance	8	47961199	47961199	Human		name
156407994	CV1911410	single nucleotide variant	NM_182746.3(MCM4):c.957C>G (p.Arg319=)	not provided [RCV002607078]	likely benign	8	47966311	47966311	Human		name
156015049	CV1912720	single nucleotide variant	NM_182746.3(MCM4):c.756A>G (p.Ser252=)	not provided [RCV002619102]	likely benign	8	47964636	47964636	Human		name
156449849	CV1942122	single nucleotide variant	NM_182746.3(MCM4):c.735C>T (p.Phe245=)	not provided [RCV003121977]	likely benign	8	47964615	47964615	Human		name
156438980	CV1943838	single nucleotide variant	NM_182746.3(MCM4):c.31C>T (p.Arg11Cys)	not provided [RCV003108932]\|not specified [RCV004935314]	uncertain significance	8	47961175	47961175	Human		name
156396785	CV1959071	deletion	NM_182746.3(MCM4):c.1928+12_1928+13del	not provided [RCV002584434]	likely benign	8	47971479	47971480	Human		name
156409909	CV1962013	single nucleotide variant	NM_182746.3(MCM4):c.819C>T (p.Asn273=)	not provided [RCV002586979]	likely benign	8	47964699	47964699	Human		name
156382873	CV1975261	single nucleotide variant	NM_182746.3(MCM4):c.480A>G (p.Ala160=)	not provided [RCV002604092]	likely benign	8	47962385	47962385	Human		name
155953652	CV2014162	single nucleotide variant	NM_182746.3(MCM4):c.957C>T (p.Arg319=)	not provided [RCV002686154]	likely benign	8	47966311	47966311	Human		name
156276023	CV2023511	single nucleotide variant	NM_182746.3(MCM4):c.531G>A (p.Leu177=)	not provided [RCV002746802]	uncertain significance	8	47962793	47962793	Human		name
155942708	CV2068368	single nucleotide variant	NM_182746.3(MCM4):c.882G>A (p.Gln294=)	not provided [RCV002839518]	likely benign	8	47966236	47966236	Human		name
156351503	CV2069665	single nucleotide variant	NM_182746.3(MCM4):c.385C>T (p.Leu129=)	not provided [RCV002811822]	likely benign	8	47962202	47962202	Human		name
156126891	CV2072786	single nucleotide variant	NM_182746.3(MCM4):c.531G>C (p.Leu177=)	not provided [RCV002825520]	likely benign	8	47962793	47962793	Human		name
155907057	CV2077401	deletion	NM_182746.3(MCM4):c.1054-16_1054-15del	not provided [RCV002858218]	likely benign	8	47967348	47967349	Human		name
156220361	CV2124332	insertion	NM_182746.3(MCM4):c.597+10_597+11insCA	not provided [RCV002958117]	likely benign	8	47962869	47962870	Human		name
156155638	CV2150778	deletion	NM_182746.3(MCM4):c.1800+14_1800+16del	not provided [RCV003023007]	likely benign	8	47970889	47970891	Human		name
156239938	CV2152341	single nucleotide variant	NM_182746.3(MCM4):c.867G>A (p.Val289=)	not provided [RCV003008063]	likely benign	8	47966221	47966221	Human		name
156334399	CV2168242	single nucleotide variant	NM_182746.3(MCM4):c.627T>C (p.Asn209=)	not provided [RCV003029944]	likely benign	8	47962974	47962974	Human		name
156336956	CV2190041	single nucleotide variant	NM_182746.3(MCM4):c.68C>T (p.Thr23Met)	not provided [RCV003064020]	uncertain significance	8	47961212	47961212	Human		name
156197828	CV2293609	single nucleotide variant	NM_182746.3(MCM4):c.67A>C (p.Thr23Pro)	not specified [RCV004153125]	uncertain significance	8	47961211	47961211	Human		name
402513545	CV2855424	single nucleotide variant	NM_182746.3(MCM4):c.753C>T (p.Asp251=)	not provided [RCV003547217]	likely benign	8	47964633	47964633	Human		name
402496315	CV2875337	single nucleotide variant	NM_182746.3(MCM4):c.498T>C (p.Phe166=)	not provided [RCV003545457]	likely benign	8	47962403	47962403	Human		name
405210271	CV2920818	single nucleotide variant	NM_182746.3(MCM4):c.372C>T (p.Gly124=)	not provided [RCV003567068]	likely benign	8	47962189	47962189	Human		name
402509602	CV2938571	single nucleotide variant	NM_182746.3(MCM4):c.333T>A (p.Pro111=)	not provided [RCV003662439]	likely benign	8	47962150	47962150	Human		name
405162564	CV2951474	single nucleotide variant	NM_182746.3(MCM4):c.352C>T (p.Leu118=)	not provided [RCV003670833]	likely benign	8	47962169	47962169	Human		name
405181801	CV2956456	single nucleotide variant	NM_182746.3(MCM4):c.363A>G (p.Ala121=)	not provided [RCV003676347]	likely benign	8	47962180	47962180	Human		name
402520896	CV3002613	single nucleotide variant	NM_182746.3(MCM4):c.690A>T (p.Pro230=)	not provided [RCV003690289]	likely benign	8	47963037	47963037	Human		name
11610576	CV305457	single nucleotide variant	NM_182746.3(MCM4):c.891C>T (p.Pro297=)	MCM4-related disorder [RCV003957858]\|Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000383558]\|not provided [RCV001439700]	likely benign\|uncertain significance	8	47966245	47966245	Human	1	name , trait , alternate_id
405037423	CV3072514	single nucleotide variant	NM_182746.3(MCM4):c.912C>T (p.Phe304=)	not provided [RCV003739444]	likely benign	8	47966266	47966266	Human		name
11599882	CV309327	single nucleotide variant	NM_182746.3(MCM4):c.858C>T (p.Ser286=)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000269318]\|not provided [RCV000949741]	benign\|uncertain significance	8	47966212	47966212	Human	1	name
405204195	CV3116913	single nucleotide variant	NM_182746.3(MCM4):c.936G>A (p.Thr312=)	not provided [RCV003822397]	likely benign	8	47966290	47966290	Human		name
405116430	CV3134308	microsatellite	NM_182746.3(MCM4):c.1435-12_1435-11del	not provided [RCV003836910]	likely benign	8	47970496	47970497	Human		name
405123466	CV3136335	single nucleotide variant	NM_182746.3(MCM4):c.807G>A (p.Lys269=)	not provided [RCV003837665]	likely benign	8	47964687	47964687	Human		name
405213015	CV3142745	microsatellite	NM_182746.3(MCM4):c.1054-18_1054-17del	not provided [RCV003846102]	likely benign	8	47967344	47967345	Human		name
405232788	CV3144944	single nucleotide variant	NM_182746.3(MCM4):c.549T>C (p.Asn183=)	not provided [RCV003853201]	likely benign	8	47962811	47962811	Human		name
11662633	CV314644	single nucleotide variant	NM_182746.3(MCM4):c.978T>C (p.Ser326=)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000388070]\|not provided [RCV003660796]	likely benign\|uncertain significance	8	47966332	47966332	Human	1	name
405136208	CV3164333	single nucleotide variant	NM_182746.3(MCM4):c.981G>A (p.Val327=)	not provided [RCV003855128]	likely benign	8	47966335	47966335	Human		name
405236829	CV3169103	single nucleotide variant	NM_182746.3(MCM4):c.603T>C (p.Asn201=)	not provided [RCV003866382]	likely benign	8	47962950	47962950	Human		name
405669605	CV3288849	single nucleotide variant	NM_182746.3(MCM4):c.38G>T (p.Ser13Ile)	not specified [RCV004419229]	uncertain significance	8	47961182	47961182	Human		name
597899991	CV3741002	single nucleotide variant	NM_182746.3(MCM4):c.720T>A (p.Ala240=)	not provided [RCV005072165]	likely benign	8	47964600	47964600	Human		name
597877699	CV3744287	single nucleotide variant	NM_182746.3(MCM4):c.564T>C (p.Ile188=)	not provided [RCV005069501]	likely benign	8	47962826	47962826	Human		name
597859889	CV3782778	single nucleotide variant	NM_182746.3(MCM4):c.612T>C (p.Gly204=)	not provided [RCV005134318]	likely benign	8	47962959	47962959	Human		name
597865353	CV3792218	single nucleotide variant	NM_182746.3(MCM4):c.585A>G (p.Gln195=)	not provided [RCV005139776]	likely benign	8	47962847	47962847	Human		name
597903179	CV3825808	single nucleotide variant	NM_182746.3(MCM4):c.525C>T (p.Asp175=)	not provided [RCV005177682]	likely benign	8	47962787	47962787	Human		name
597915122	CV3847050	single nucleotide variant	NM_182746.3(MCM4):c.792C>T (p.Asn264=)	not provided [RCV005190222]	likely benign	8	47964672	47964672	Human		name
598211042	CV3992739	single nucleotide variant	NM_182746.3(MCM4):c.56C>T (p.Thr19Ile)	not specified [RCV005377956]	uncertain significance	8	47961200	47961200	Human		name
14399169	CV614322	single nucleotide variant	NM_182746.3(MCM4):c.31C>G (p.Arg11Gly)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000768261]\|not provided [RCV001772024]\|not specified [RCV004027213]	uncertain significance	8	47961175	47961175	Human	1	name
15194517	CV751195	single nucleotide variant	NM_182746.3(MCM4):c.984C>T (p.Cys328=)	not provided [RCV000911148]	likely benign	8	47966338	47966338	Human		name
28868779	CV899706	single nucleotide variant	NM_182746.3(MCM4):c.693G>A (p.Gln231=)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001162703]\|not provided [RCV001882515]	uncertain significance	8	47963040	47963040	Human	1	name
127310454	CV1118688	single nucleotide variant	NM_182746.3(MCM4):c.1281A>G (p.Lys427=)	not provided [RCV001463855]	likely benign	8	47969904	47969904	Human		name
127303014	CV1139556	single nucleotide variant	NM_182746.3(MCM4):c.2004A>G (p.Ala668=)	not provided [RCV001499252]	likely benign	8	47972932	47972932	Human		name
151810887	CV1350322	single nucleotide variant	NM_182746.3(MCM4):c.128C>T (p.Thr43Ile)	not provided [RCV002048843]\|not specified [RCV004044801]	uncertain significance	8	47961573	47961573	Human		name
151866806	CV1358679	single nucleotide variant	NM_182746.3(MCM4):c.185C>G (p.Pro62Arg)	not provided [RCV001939256]	uncertain significance	8	47961630	47961630	Human		name
151882124	CV1364073	single nucleotide variant	NM_182746.3(MCM4):c.1680A>G (p.Thr560=)	not provided [RCV001999764]	likely benign	8	47970756	47970756	Human		name
151833983	CV1384762	single nucleotide variant	NM_182746.3(MCM4):c.169G>A (p.Val57Met)	not provided [RCV001955960]\|not specified [RCV004641828]	uncertain significance	8	47961614	47961614	Human		name
151667645	CV1384985	single nucleotide variant	NM_182746.3(MCM4):c.110G>A (p.Arg37His)	not provided [RCV001982641]\|not specified [RCV004043703]	uncertain significance	8	47961555	47961555	Human		name
151764596	CV1387344	single nucleotide variant	NM_182746.3(MCM4):c.173A>G (p.Asp58Gly)	not provided [RCV001987649]	uncertain significance	8	47961618	47961618	Human		name
151719927	CV1396476	single nucleotide variant	NM_182746.3(MCM4):c.2364G>A (p.Thr788=)	not provided [RCV001890932]	uncertain significance	8	47974961	47974961	Human		name
151709584	CV1409308	single nucleotide variant	NM_182746.3(MCM4):c.220C>G (p.Gln74Glu)	not provided [RCV001907708]	uncertain significance	8	47961665	47961665	Human		name
151731780	CV1419311	single nucleotide variant	NM_182746.3(MCM4):c.172G>C (p.Asp58His)	not provided [RCV001946120]	uncertain significance	8	47961617	47961617	Human		name
151721810	CV1419755	single nucleotide variant	NM_182746.3(MCM4):c.1704C>T (p.Asn568=)	not provided [RCV001983198]	likely benign	8	47970780	47970780	Human		name
151712233	CV1424455	single nucleotide variant	NM_182746.3(MCM4):c.196G>C (p.Asp66His)	not provided [RCV001964528]	uncertain significance	8	47961641	47961641	Human		name
151747787	CV1445880	single nucleotide variant	NM_182746.3(MCM4):c.227A>G (p.His76Arg)	not provided [RCV002042937]	uncertain significance	8	47961672	47961672	Human		name
151734696	CV1453170	single nucleotide variant	NM_182746.3(MCM4):c.190G>A (p.Ala64Thr)	not provided [RCV002041572]	uncertain significance	8	47961635	47961635	Human		name
151783467	CV1474431	single nucleotide variant	NM_182746.3(MCM4):c.151A>T (p.Met51Leu)	not provided [RCV001930656]	uncertain significance	8	47961596	47961596	Human		name
151829267	CV1489288	single nucleotide variant	NM_182746.3(MCM4):c.1800G>A (p.Lys600=)	not provided [RCV001934895]	uncertain significance	8	47970876	47970876	Human		name
151757499	CV1510068	single nucleotide variant	NM_182746.3(MCM4):c.184C>T (p.Pro62Ser)	not provided [RCV001928133]	uncertain significance	8	47961629	47961629	Human		name
151873862	CV1511356	single nucleotide variant	NM_182746.3(MCM4):c.296T>C (p.Val99Ala)	not provided [RCV001960794]	uncertain significance	8	47962113	47962113	Human		name
152106749	CV1527422	single nucleotide variant	NM_182746.3(MCM4):c.2232T>C (p.His744=)	not provided [RCV002079708]	likely benign	8	47974829	47974829	Human		name
152095085	CV1533939	single nucleotide variant	NM_182746.3(MCM4):c.2142T>C (p.Tyr714=)	not provided [RCV002151097]	likely benign	8	47974739	47974739	Human		name
152105254	CV1536685	single nucleotide variant	NM_182746.3(MCM4):c.1056C>A (p.Ile352=)	not provided [RCV002173627]	likely benign	8	47967367	47967367	Human		name
152122642	CV1541663	single nucleotide variant	NM_182746.3(MCM4):c.1965C>T (p.Asp655=)	not provided [RCV002175782]	likely benign	8	47972893	47972893	Human		name
152080571	CV1546552	single nucleotide variant	NM_182746.3(MCM4):c.2004A>C (p.Ala668=)	not provided [RCV002130767]	likely benign	8	47972932	47972932	Human		name
152094469	CV1561782	single nucleotide variant	NM_182746.3(MCM4):c.2379C>A (p.Thr793=)	not provided [RCV002194730]	likely benign	8	47975728	47975728	Human		name
152152128	CV1565050	single nucleotide variant	NM_182746.3(MCM4):c.1134C>T (p.Leu378=)	not provided [RCV002102388]	likely benign	8	47967445	47967445	Human		name
152087685	CV1574114	single nucleotide variant	NM_182746.3(MCM4):c.1605G>C (p.Gly535=)	not provided [RCV002150161]	likely benign	8	47970681	47970681	Human		name
152147575	CV1576759	single nucleotide variant	NM_182746.3(MCM4):c.1584C>T (p.Pro528=)	not provided [RCV002178954]	likely benign	8	47970660	47970660	Human		name
152176393	CV1594078	single nucleotide variant	NM_182746.3(MCM4):c.1035C>A (p.Leu345=)	not provided [RCV002164538]	likely benign	8	47966389	47966389	Human		name
152132234	CV1604736	single nucleotide variant	NM_182746.3(MCM4):c.1446T>C (p.Leu482=)	not provided [RCV002099644]	likely benign	8	47970522	47970522	Human		name
152087114	CV1608486	single nucleotide variant	NM_182746.3(MCM4):c.2187A>T (p.Ala729=)	not provided [RCV002212196]	likely benign	8	47974784	47974784	Human		name
152106180	CV1609002	single nucleotide variant	NM_182746.3(MCM4):c.2577C>T (p.Thr859=)	not provided [RCV002096194]	likely benign	8	47976763	47976763	Human		name
152083427	CV1623861	single nucleotide variant	NM_182746.3(MCM4):c.1695G>A (p.Leu565=)	not provided [RCV002149607]	likely benign	8	47970771	47970771	Human		name
152131598	CV1631147	single nucleotide variant	NM_182746.3(MCM4):c.2187A>G (p.Ala729=)	not provided [RCV002119154]	likely benign	8	47974784	47974784	Human		name
152040029	CV1649113	single nucleotide variant	NM_182746.3(MCM4):c.1353A>G (p.Glu451=)	not provided [RCV002206206]	likely benign	8	47969976	47969976	Human		name
152173336	CV1653047	single nucleotide variant	NM_182746.3(MCM4):c.1719C>T (p.Ile573=)	not provided [RCV002144071]	likely benign	8	47970795	47970795	Human		name
152056807	CV1656454	single nucleotide variant	NM_182746.3(MCM4):c.2208A>T (p.Ser736=)	not provided [RCV002109646]	likely benign	8	47974805	47974805	Human		name
152033210	CV1657856	single nucleotide variant	NM_182746.3(MCM4):c.1458C>A (p.Gly486=)	not provided [RCV002187044]	likely benign	8	47970534	47970534	Human		name
152151848	CV1664378	single nucleotide variant	NM_182746.3(MCM4):c.1692C>T (p.Val564=)	not provided [RCV002158311]	likely benign	8	47970768	47970768	Human		name
152034684	CV1666200	single nucleotide variant	NM_182746.3(MCM4):c.1797A>G (p.Ala599=)	not provided [RCV002106787]	likely benign	8	47970873	47970873	Human		name
156393092	CV1876043	single nucleotide variant	NM_182746.3(MCM4):c.1599G>A (p.Thr533=)	not provided [RCV003068245]	likely benign	8	47970675	47970675	Human		name
156362165	CV1900642	single nucleotide variant	NM_182746.3(MCM4):c.1566C>T (p.Tyr522=)	not provided [RCV002581800]	likely benign	8	47970642	47970642	Human		name
155931697	CV1909193	single nucleotide variant	NM_182746.3(MCM4):c.1836T>C (p.Ser612=)	not provided [RCV002615028]	likely benign	8	47971376	47971376	Human		name
156273100	CV1915462	single nucleotide variant	NM_182746.3(MCM4):c.2577C>A (p.Thr859=)	not provided [RCV002628170]	likely benign	8	47976763	47976763	Human		name
156058864	CV1927584	single nucleotide variant	NM_182746.3(MCM4):c.2055G>A (p.Ala685=)	not provided [RCV002659620]	likely benign	8	47972983	47972983	Human		name
156312677	CV1934613	single nucleotide variant	NM_182746.3(MCM4):c.292C>T (p.Arg98Trp)	not provided [RCV002629869]	uncertain significance	8	47962109	47962109	Human		name
156446473	CV1937949	single nucleotide variant	NM_182746.3(MCM4):c.1164G>A (p.Val388=)	not provided [RCV003117978]	likely benign	8	47967475	47967475	Human		name
156138151	CV1963023	single nucleotide variant	NM_182746.3(MCM4):c.1080C>T (p.Asp360=)	MCM4-related disorder [RCV003926408]\|not provided [RCV002572472]	likely benign	8	47967391	47967391	Human	1	name , trait , alternate_id
156353591	CV1974845	single nucleotide variant	NM_182746.3(MCM4):c.2130C>T (p.Leu710=)	not provided [RCV002602003]	likely benign	8	47973058	47973058	Human		name
156111915	CV1988826	single nucleotide variant	NM_182746.3(MCM4):c.2100G>A (p.Pro700=)	not provided [RCV002622612]	likely benign	8	47973028	47973028	Human		name
156113231	CV1993737	single nucleotide variant	NM_182746.3(MCM4):c.1959T>C (p.Pro653=)	not provided [RCV002662571]	likely benign	8	47972887	47972887	Human		name
156222360	CV2009235	single nucleotide variant	NM_182746.3(MCM4):c.1749A>G (p.Thr583=)	not provided [RCV002701053]	likely benign	8	47970825	47970825	Human		name
156004446	CV2014943	single nucleotide variant	NM_182746.3(MCM4):c.283C>G (p.Pro95Ala)	not provided [RCV002690205]\|not specified [RCV004066936]	uncertain significance	8	47962100	47962100	Human		name
156219900	CV2015448	single nucleotide variant	NM_182746.3(MCM4):c.153G>A (p.Met51Ile)	not provided [RCV002700965]	uncertain significance	8	47961598	47961598	Human		name
156313578	CV2017819	single nucleotide variant	NM_182746.3(MCM4):c.2376C>T (p.Ala792=)	not provided [RCV002671770]	likely benign	8	47975725	47975725	Human		name
156110409	CV2042491	single nucleotide variant	NM_182746.3(MCM4):c.1362G>A (p.Arg454=)	not provided [RCV002785376]	likely benign	8	47969985	47969985	Human		name
156041843	CV2044108	single nucleotide variant	NM_182746.3(MCM4):c.1530C>T (p.Gly510=)	not provided [RCV002781521]	likely benign	8	47970606	47970606	Human		name
156146634	CV2052760	single nucleotide variant	NM_182746.3(MCM4):c.1005C>T (p.His335=)	not provided [RCV002801152]	likely benign	8	47966359	47966359	Human		name
156185200	CV2055668	single nucleotide variant	NM_182746.3(MCM4):c.235G>C (p.Ala79Pro)	not provided [RCV002828434]	uncertain significance	8	47961680	47961680	Human		name
155919821	CV2073648	single nucleotide variant	NM_182746.3(MCM4):c.1467G>A (p.Arg489=)	not provided [RCV002838260]	likely benign	8	47970543	47970543	Human		name
156369597	CV2109633	single nucleotide variant	NM_182746.3(MCM4):c.1755G>A (p.Ser585=)	not provided [RCV002942221]	likely benign	8	47970831	47970831	Human		name
156015931	CV2114413	single nucleotide variant	NM_182746.3(MCM4):c.155C>T (p.Pro52Leu)	not provided [RCV002909364]	uncertain significance	8	47961600	47961600	Human		name
156310295	CV2119952	single nucleotide variant	NM_182746.3(MCM4):c.1278A>C (p.Ala426=)	not provided [RCV002962580]	likely benign	8	47969901	47969901	Human		name
155938622	CV2135220	single nucleotide variant	NM_182746.3(MCM4):c.2154G>A (p.Arg718=)	not provided [RCV002993902]	likely benign	8	47974751	47974751	Human		name
155950173	CV2158924	single nucleotide variant	NM_182746.3(MCM4):c.1308A>G (p.Ala436=)	not provided [RCV003014808]	likely benign	8	47969931	47969931	Human		name
156091730	CV2167069	single nucleotide variant	NM_182746.3(MCM4):c.2241A>G (p.Val747=)	not provided [RCV003038242]	likely benign	8	47974838	47974838	Human		name
156104818	CV2180891	single nucleotide variant	NM_182746.3(MCM4):c.2070C>T (p.Tyr690=)	not provided [RCV003054859]	likely benign	8	47972998	47972998	Human		name
156117760	CV2183066	single nucleotide variant	NM_182746.3(MCM4):c.1767A>G (p.Glu589=)	not provided [RCV003039194]	likely benign	8	47970843	47970843	Human		name
156199583	CV2256005	single nucleotide variant	NM_182746.3(MCM4):c.148C>T (p.Pro50Ser)	not specified [RCV004122444]	uncertain significance	8	47961593	47961593	Human		name
156065527	CV2323720	single nucleotide variant	NM_182746.3(MCM4):c.167G>A (p.Gly56Glu)	not provided [RCV003575005]\|not specified [RCV004174377]	uncertain significance	8	47961612	47961612	Human		name
405209462	CV2866946	single nucleotide variant	NM_182746.3(MCM4):c.1666C>T (p.Leu556=)	not provided [RCV003552386]	likely benign	8	47970742	47970742	Human		name
405219498	CV2870146	single nucleotide variant	NM_182746.3(MCM4):c.2028G>A (p.Gln676=)	not provided [RCV003553665]	likely benign	8	47972956	47972956	Human		name
405112668	CV2939018	single nucleotide variant	NM_182746.3(MCM4):c.2454A>G (p.Leu818=)	not provided [RCV003666512]	likely benign	8	47975803	47975803	Human		name
405086516	CV2943230	single nucleotide variant	NM_182746.3(MCM4):c.2580G>T (p.Val860=)	not provided [RCV003664988]	likely benign	8	47976766	47976766	Human		name
405096180	CV2944110	single nucleotide variant	NM_182746.3(MCM4):c.293G>A (p.Arg98Gln)	not provided [RCV003665665]	uncertain significance	8	47962110	47962110	Human		name
405120001	CV2952164	single nucleotide variant	NM_182746.3(MCM4):c.1707C>T (p.Gly569=)	not provided [RCV003671322]	likely benign	8	47970783	47970783	Human		name
405213644	CV2971341	single nucleotide variant	NM_182746.3(MCM4):c.1140C>T (p.Asp380=)	not provided [RCV003679733]	likely benign	8	47967451	47967451	Human		name
405234701	CV2972414	single nucleotide variant	NM_182746.3(MCM4):c.161C>T (p.Ser54Leu)	not provided [RCV003682835]	uncertain significance	8	47961606	47961606	Human		name
405235052	CV2972572	single nucleotide variant	NM_182746.3(MCM4):c.1830C>T (p.Arg610=)	not provided [RCV003682926]	likely benign	8	47971370	47971370	Human		name
405188645	CV2974219	single nucleotide variant	NM_182746.3(MCM4):c.1365A>G (p.Lys455=)	not provided [RCV003676993]	likely benign	8	47969988	47969988	Human		name
402511678	CV2991177	single nucleotide variant	NM_182746.3(MCM4):c.1335T>G (p.Arg445=)	not provided [RCV003689608]	likely benign	8	47969958	47969958	Human		name
402491415	CV3011955	single nucleotide variant	NM_182746.3(MCM4):c.1821C>T (p.Leu607=)	not provided [RCV003687570]	likely benign	8	47971361	47971361	Human		name
405002894	CV3015321	single nucleotide variant	NM_182746.3(MCM4):c.1956C>T (p.Asp652=)	not provided [RCV003693250]	likely benign	8	47972884	47972884	Human		name
405253466	CV3044382	single nucleotide variant	NM_182746.3(MCM4):c.1764T>C (p.His588=)	not provided [RCV003722474]	likely benign	8	47970840	47970840	Human		name
405244514	CV3050647	single nucleotide variant	NM_182746.3(MCM4):c.1941C>T (p.Ile647=)	not provided [RCV003720005]	likely benign	8	47972869	47972869	Human		name
11606703	CV305464	single nucleotide variant	NM_182746.3(MCM4):c.1209A>G (p.Pro403=)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000334849]\|not provided [RCV000949742]	benign\|uncertain significance	8	47969832	47969832	Human	1	name
11607215	CV305466	single nucleotide variant	NM_182746.3(MCM4):c.1569G>A (p.Val523=)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000340563]\|not provided [RCV000881050]	benign\|likely benign\|uncertain significance	8	47970645	47970645	Human	1	name
405102960	CV3119554	single nucleotide variant	NM_182746.3(MCM4):c.2172G>C (p.Arg724=)	not provided [RCV003811816]	likely benign	8	47974769	47974769	Human		name
405132670	CV3133486	single nucleotide variant	NM_182746.3(MCM4):c.1458C>T (p.Gly486=)	not provided [RCV003838456]	likely benign	8	47970534	47970534	Human		name
405107538	CV3136307	single nucleotide variant	NM_182746.3(MCM4):c.1512C>T (p.Ile504=)	not provided [RCV003835653]	likely benign	8	47970588	47970588	Human		name
405105684	CV3139929	single nucleotide variant	NM_182746.3(MCM4):c.2340C>T (p.Ile780=)	not provided [RCV003835340]	likely benign	8	47974937	47974937	Human		name
405204507	CV3144036	single nucleotide variant	NM_182746.3(MCM4):c.1635G>A (p.Ala545=)	not provided [RCV003844826]	likely benign	8	47970711	47970711	Human		name
11658657	CV314588	single nucleotide variant	NM_182746.3(MCM4):c.187G>T (p.Ala63Ser)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000350595]	uncertain significance	8	47961632	47961632	Human	1	name
11611117	CV314593	single nucleotide variant	NM_182746.3(MCM4):c.199G>A (p.Val67Met)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000390420]\|not provided [RCV001850921]\|not specified [RCV004022075]	uncertain significance	8	47961644	47961644	Human	1	name
11659280	CV314638	single nucleotide variant	NM_182746.3(MCM4):c.241C>T (p.Pro81Ser)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000356537]	uncertain significance	8	47962058	47962058	Human	1	name
11603969	CV314651	single nucleotide variant	NM_182746.3(MCM4):c.1659A>G (p.Thr553=)	MCM4-related disorder [RCV003932504]\|Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000305168]\|not provided [RCV000884828]	benign\|likely benign\|uncertain significance	8	47970735	47970735	Human	1	name , trait , alternate_id
11611972	CV314662	single nucleotide variant	NM_182746.3(MCM4):c.1578C>G (p.Leu526=)	MCM4-related disorder [RCV003972532]\|Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000401676]\|not provided [RCV001504252]	likely benign\|uncertain significance	8	47970654	47970654	Human	1	name , trait , alternate_id
405173187	CV3150443	single nucleotide variant	NM_182746.3(MCM4):c.2031A>C (p.Ala677=)	not provided [RCV003841717]	likely benign	8	47972959	47972959	Human		name
405187357	CV3156441	single nucleotide variant	NM_182746.3(MCM4):c.2082G>A (p.Ala694=)	not provided [RCV003859319]	likely benign	8	47973010	47973010	Human		name
405247429	CV3158794	single nucleotide variant	NM_182746.3(MCM4):c.1419T>C (p.His473=)	not provided [RCV003869136]	likely benign	8	47970042	47970042	Human		name
405212407	CV3169755	single nucleotide variant	NM_182746.3(MCM4):c.152T>A (p.Met51Lys)	not provided [RCV003862354]	uncertain significance	8	47961597	47961597	Human		name
597842523	CV3752352	single nucleotide variant	NM_182746.3(MCM4):c.1114C>T (p.Leu372=)	not provided [RCV005086758]	likely benign	8	47967425	47967425	Human		name
597969066	CV3761326	single nucleotide variant	NM_182746.3(MCM4):c.1558C>T (p.Leu520=)	not provided [RCV005083713]	likely benign	8	47970634	47970634	Human		name
597850394	CV3784828	single nucleotide variant	NM_182746.3(MCM4):c.1722T>C (p.Asp574=)	not provided [RCV005125607]	likely benign	8	47970798	47970798	Human		name
597850269	CV3788146	single nucleotide variant	NM_182746.3(MCM4):c.2502A>G (p.Ala834=)	not provided [RCV005125504]	likely benign	8	47976688	47976688	Human		name
597866998	CV3791646	single nucleotide variant	NM_182746.3(MCM4):c.1287G>T (p.Leu429=)	not provided [RCV005141463]	likely benign	8	47969910	47969910	Human		name
597883452	CV3808248	single nucleotide variant	NM_182746.3(MCM4):c.2412A>G (p.Ala804=)	not provided [RCV005158436]	likely benign	8	47975761	47975761	Human		name
597880607	CV3811811	single nucleotide variant	NM_182746.3(MCM4):c.2058G>T (p.Val686=)	not provided [RCV005155642]	likely benign	8	47972986	47972986	Human		name
597884822	CV3812430	single nucleotide variant	NM_182746.3(MCM4):c.1047G>A (p.Lys349=)	not provided [RCV005159640]	likely benign	8	47966401	47966401	Human		name
597881467	CV3819834	single nucleotide variant	NM_182746.3(MCM4):c.2157G>A (p.Lys719=)	not provided [RCV005156534]	likely benign	8	47974754	47974754	Human		name
597892918	CV3820067	single nucleotide variant	NM_182746.3(MCM4):c.2433T>C (p.Ser811=)	not provided [RCV005167781]	likely benign	8	47975782	47975782	Human		name
597892664	CV3823474	single nucleotide variant	NM_182746.3(MCM4):c.1251T>C (p.Asp417=)	not provided [RCV005167570]	likely benign	8	47969874	47969874	Human		name
597894915	CV3829292	single nucleotide variant	NM_182746.3(MCM4):c.2001C>T (p.Val667=)	not provided [RCV005169741]	likely benign	8	47972929	47972929	Human		name
597923528	CV3860148	single nucleotide variant	NM_182746.3(MCM4):c.2202A>G (p.Leu734=)	not provided [RCV005198357]	likely benign	8	47974799	47974799	Human		name
598211049	CV3992740	single nucleotide variant	NM_182746.3(MCM4):c.110G>T (p.Arg37Leu)	not specified [RCV005377957]	uncertain significance	8	47961555	47961555	Human		name
13525874	CV512834	single nucleotide variant	NM_182746.3(MCM4):c.2064G>A (p.Lys688=)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000625060]\|not provided [RCV000950417]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	47972992	47972992	Human	1	name
15188021	CV700601	single nucleotide variant	NM_182746.3(MCM4):c.1578C>T (p.Leu526=)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001161252]\|not provided [RCV000953759]	benign\|likely benign\|uncertain significance	8	47970654	47970654	Human	1	name
15140795	CV711563	single nucleotide variant	NM_182746.3(MCM4):c.1368A>G (p.Pro456=)	not provided [RCV000966202]	likely benign	8	47969991	47969991	Human		name
15191268	CV723132	single nucleotide variant	NM_182746.3(MCM4):c.2358T>A (p.Leu786=)	not provided [RCV000888331]	likely benign	8	47974955	47974955	Human		name
15135495	CV736701	single nucleotide variant	NM_182746.3(MCM4):c.2217C>T (p.Arg739=)	not provided [RCV000898469]	likely benign	8	47974814	47974814	Human		name
15140776	CV751196	single nucleotide variant	NM_182746.3(MCM4):c.1947C>T (p.Leu649=)	not provided [RCV000921732]	likely benign	8	47972875	47972875	Human		name
15151587	CV751197	single nucleotide variant	NM_182746.3(MCM4):c.2079C>T (p.Tyr693=)	not provided [RCV000923706]	likely benign	8	47973007	47973007	Human		name
15184618	CV766855	single nucleotide variant	NM_182746.3(MCM4):c.1884A>G (p.Lys628=)	not provided [RCV000930850]	likely benign	8	47971424	47971424	Human		name
15178254	CV766856	single nucleotide variant	NM_182746.3(MCM4):c.2133C>T (p.Ile711=)	not provided [RCV000929355]	likely benign	8	47973061	47973061	Human		name
15195390	CV766857	single nucleotide variant	NM_182746.3(MCM4):c.2172G>A (p.Arg724=)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001162804]\|not provided [RCV000933926]	benign\|likely benign	8	47974769	47974769	Human	1	name
15193418	CV766858	single nucleotide variant	NM_182746.3(MCM4):c.2253C>T (p.Asn751=)	not provided [RCV000933357]	likely benign	8	47974850	47974850	Human		name
28907802	CV899702	single nucleotide variant	NM_182746.3(MCM4):c.157A>G (p.Thr53Ala)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001159742]\|not provided [RCV002070972]\|not specified [RCV004032844]	likely benign\|uncertain significance	8	47961602	47961602	Human	1	name
28910096	CV899704	single nucleotide variant	NM_182746.3(MCM4):c.253G>T (p.Asp85Tyr)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001161144]\|not provided [RCV002032490]	uncertain significance	8	47962070	47962070	Human	1	name
28910244	CV899712	single nucleotide variant	NM_182746.3(MCM4):c.1728C>T (p.Phe576=)	MCM4-related disorder [RCV003953546]\|Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001161253]\|not provided [RCV002070997]	likely benign\|uncertain significance	8	47970804	47970804	Human	1	name , trait , alternate_id
28868943	CV899715	single nucleotide variant	NM_182746.3(MCM4):c.2082G>C (p.Ala694=)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001162802]\|not provided [RCV001513909]	benign\|likely benign	8	47973010	47973010	Human	1	name
38459308	CV919159	single nucleotide variant	NM_182746.3(MCM4):c.220C>T (p.Gln74Ter)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001195736]	likely pathogenic	8	47961665	47961665	Human	1	name
126743209	CV1017069	single nucleotide variant	NM_182746.3(MCM4):c.311G>A (p.Arg104Lys)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001330147]	uncertain significance	8	47962128	47962128	Human	1	name
126727825	CV1028603	single nucleotide variant	NM_182746.3(MCM4):c.515G>A (p.Arg172His)	not provided [RCV001348785]	uncertain significance	8	47962777	47962777	Human		name
150530127	CV1293355	single nucleotide variant	NM_182746.3(MCM4):c.541G>A (p.Glu181Lys)	not provided [RCV001756575]	uncertain significance	8	47962803	47962803	Human		name
151798439	CV1337149	single nucleotide variant	NM_182746.3(MCM4):c.521T>C (p.Ile174Thr)	not provided [RCV002047758]	uncertain significance	8	47962783	47962783	Human		name
151851691	CV1349673	single nucleotide variant	NM_182746.3(MCM4):c.526C>A (p.Pro176Thr)	not provided [RCV001958080]\|not specified [RCV004043063]	uncertain significance	8	47962788	47962788	Human		name
151810986	CV1359369	single nucleotide variant	NM_182746.3(MCM4):c.379G>A (p.Val127Met)	not provided [RCV001991824]	uncertain significance	8	47962196	47962196	Human		name
151758720	CV1361619	single nucleotide variant	NM_182746.3(MCM4):c.739G>T (p.Asp247Tyr)	not provided [RCV001928260]	uncertain significance	8	47964619	47964619	Human		name
151858114	CV1363992	single nucleotide variant	NM_182746.3(MCM4):c.985G>A (p.Gly329Arg)	not provided [RCV001904944]\|not specified [RCV004641716]	uncertain significance	8	47966339	47966339	Human		name
151813080	CV1373122	single nucleotide variant	NM_182746.3(MCM4):c.943G>A (p.Val315Met)	not provided [RCV001900144]	uncertain significance	8	47966297	47966297	Human		name
151863078	CV1374319	single nucleotide variant	NM_182746.3(MCM4):c.820C>G (p.Leu274Val)	not provided [RCV001884186]	uncertain significance	8	47964700	47964700	Human		name
151820884	CV1398285	single nucleotide variant	NM_182746.3(MCM4):c.989G>A (p.Arg330His)	not provided [RCV002013363]	uncertain significance	8	47966343	47966343	Human		name
151747360	CV1398595	single nucleotide variant	NM_182746.3(MCM4):c.658A>G (p.Lys220Glu)	not provided [RCV002042885]	uncertain significance	8	47963005	47963005	Human		name
151712333	CV1400388	single nucleotide variant	NM_182746.3(MCM4):c.988C>T (p.Arg330Cys)	not provided [RCV002002232]	uncertain significance	8	47966342	47966342	Human		name
151722298	CV1406631	single nucleotide variant	NM_182746.3(MCM4):c.864G>A (p.Met288Ile)	not provided [RCV002003849]	uncertain significance	8	47966218	47966218	Human		name
151808525	CV1423345	single nucleotide variant	NM_182746.3(MCM4):c.673C>A (p.Gln225Lys)	not provided [RCV002012206]	uncertain significance	8	47963020	47963020	Human		name
151749959	CV1430406	single nucleotide variant	NM_182746.3(MCM4):c.616C>T (p.Pro206Ser)	not provided [RCV002006762]	uncertain significance	8	47962963	47962963	Human		name
151739160	CV1437546	single nucleotide variant	NM_182746.3(MCM4):c.830A>C (p.Glu277Ala)	not provided [RCV001870846]	uncertain significance	8	47964710	47964710	Human		name
151828735	CV1465426	single nucleotide variant	NM_182746.3(MCM4):c.958G>A (p.Gly320Ser)	not provided [RCV002014097]	uncertain significance	8	47966312	47966312	Human		name
151719280	CV1468667	single nucleotide variant	NM_182746.3(MCM4):c.526C>T (p.Pro176Ser)	not provided [RCV002003412]	uncertain significance	8	47962788	47962788	Human		name
151778227	CV1472403	single nucleotide variant	NM_182746.3(MCM4):c.416T>C (p.Ile139Thr)	not provided [RCV002045891]	uncertain significance	8	47962321	47962321	Human		name
151861512	CV1474021	single nucleotide variant	NM_182746.3(MCM4):c.998C>G (p.Thr333Ser)	not provided [RCV001883978]	uncertain significance	8	47966352	47966352	Human		name
151878180	CV1475931	single nucleotide variant	NM_182746.3(MCM4):c.721G>A (p.Val241Ile)	not provided [RCV002019799]	uncertain significance	8	47964601	47964601	Human		name
151795012	CV1482784	single nucleotide variant	NM_182746.3(MCM4):c.742C>T (p.Arg248Cys)	not provided [RCV002047458]	uncertain significance	8	47964622	47964622	Human		name
151744496	CV1494900	single nucleotide variant	NM_182746.3(MCM4):c.829G>A (p.Glu277Lys)	not provided [RCV001985578]	uncertain significance	8	47964709	47964709	Human		name
151869059	CV1497555	single nucleotide variant	NM_182746.3(MCM4):c.377A>G (p.Gln126Arg)	not provided [RCV001960191]	uncertain significance	8	47962194	47962194	Human		name
151843509	CV1499738	single nucleotide variant	NM_182746.3(MCM4):c.815G>A (p.Arg272Lys)	not provided [RCV001921820]	uncertain significance	8	47964695	47964695	Human		name
151794371	CV1504227	single nucleotide variant	NM_182746.3(MCM4):c.565A>C (p.Thr189Pro)	not provided [RCV002010989]\|not specified [RCV004046041]	uncertain significance	8	47962827	47962827	Human		name
151728079	CV1505191	single nucleotide variant	NM_182746.3(MCM4):c.706A>G (p.Thr236Ala)	not provided [RCV002021011]	uncertain significance	8	47964586	47964586	Human		name
151757971	CV1509080	single nucleotide variant	NM_182746.3(MCM4):c.671G>A (p.Arg224Lys)	not provided [RCV002024043]\|not specified [RCV004935248]	uncertain significance	8	47963018	47963018	Human		name
151725252	CV1515129	single nucleotide variant	NM_182746.3(MCM4):c.556A>G (p.Ile186Val)	not provided [RCV001983600]\|not specified [RCV004641864]	uncertain significance	8	47962818	47962818	Human		name
156361060	CV1900503	single nucleotide variant	NM_182746.3(MCM4):c.948G>T (p.Glu316Asp)	not provided [RCV002581727]	uncertain significance	8	47966302	47966302	Human		name
156132963	CV1938816	single nucleotide variant	NM_182746.3(MCM4):c.326G>A (p.Gly109Asp)	not provided [RCV003111699]\|not specified [RCV004140717]	uncertain significance	8	47962143	47962143	Human		name
156440656	CV1940445	single nucleotide variant	NM_182746.3(MCM4):c.955C>T (p.Arg319Cys)	not provided [RCV003110692]\|not specified [RCV004244546]	uncertain significance	8	47966309	47966309	Human		name
156438666	CV1947281	single nucleotide variant	NM_182746.3(MCM4):c.787T>C (p.Phe263Leu)	not provided [RCV003108612]	uncertain significance	8	47964667	47964667	Human		name
156378437	CV1953696	single nucleotide variant	NM_182746.3(MCM4):c.941G>A (p.Arg314Gln)	not provided [RCV002582992]	uncertain significance	8	47966295	47966295	Human		name
156092047	CV1963347	single nucleotide variant	NM_182746.3(MCM4):c.778G>A (p.Val260Ile)	not provided [RCV002570258]	uncertain significance	8	47964658	47964658	Human		name
155977309	CV1972228	single nucleotide variant	NM_182746.3(MCM4):c.593G>A (p.Gly198Glu)	not provided [RCV002617445]	uncertain significance	8	47962855	47962855	Human		name
156369346	CV2007588	deletion	NM_182746.3(MCM4):c.2250del (p.Asn751fs)	not provided [RCV002676785]	uncertain significance	8	47974847	47974847	Human		name
156001720	CV2014773	deletion	NM_182746.3(MCM4):c.2167del (p.Ser723fs)	not provided [RCV002690089]	uncertain significance	8	47974764	47974764	Human		name
155908477	CV2027791	single nucleotide variant	NM_182746.3(MCM4):c.793G>A (p.Ala265Thr)	not provided [RCV002726625]	uncertain significance	8	47964673	47964673	Human		name
156115652	CV2035507	single nucleotide variant	NM_182746.3(MCM4):c.833A>G (p.Asp278Gly)	not provided [RCV002785580]\|not specified [RCV004642032]	uncertain significance	8	47966187	47966187	Human		name
156178728	CV2062265	deletion	NM_182746.3(MCM4):c.1535del (p.Pro512fs)	not provided [RCV002828234]	uncertain significance	8	47970609	47970609	Human		name
156179414	CV2062313	single nucleotide variant	NM_182746.3(MCM4):c.608T>C (p.Ile203Thr)	not provided [RCV002828254]	uncertain significance	8	47962955	47962955	Human		name
155937323	CV2114279	single nucleotide variant	NM_182746.3(MCM4):c.422C>G (p.Ala141Gly)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV005050653]\|not provided [RCV002904230]	uncertain significance	8	47962327	47962327	Human	1	name
156361734	CV2119523	single nucleotide variant	NM_182746.3(MCM4):c.974C>T (p.Pro325Leu)	not provided [RCV002967023]	uncertain significance	8	47966328	47966328	Human		name
156108171	CV2140013	single nucleotide variant	NM_182746.3(MCM4):c.935C>T (p.Thr312Met)	not provided [RCV003002481]	uncertain significance	8	47966289	47966289	Human		name
155977356	CV2146647	single nucleotide variant	NM_182746.3(MCM4):c.592G>A (p.Gly198Arg)	not provided [RCV003016214]	uncertain significance	8	47962854	47962854	Human		name
156236988	CV2193529	single nucleotide variant	NM_182746.3(MCM4):c.791A>G (p.Asn264Ser)	not specified [RCV004073009]	uncertain significance	8	47964671	47964671	Human		name
155930520	CV2224756	single nucleotide variant	NM_182746.3(MCM4):c.956G>A (p.Arg319His)	not provided [RCV003738310]\|not specified [RCV004092580]	uncertain significance	8	47966310	47966310	Human		name
156119726	CV2275846	single nucleotide variant	NM_182746.3(MCM4):c.683C>G (p.Ser228Cys)	not specified [RCV004139511]	likely benign	8	47963030	47963030	Human		name
402511988	CV2859476	single nucleotide variant	NM_182746.3(MCM4):c.527C>G (p.Pro176Arg)	not provided [RCV003575181]	uncertain significance	8	47962789	47962789	Human		name
405222385	CV2880851	single nucleotide variant	NM_182746.3(MCM4):c.571C>T (p.Pro191Ser)	not provided [RCV003554021]	likely benign	8	47962833	47962833	Human		name
402499626	CV2946913	single nucleotide variant	NM_182746.3(MCM4):c.571C>A (p.Pro191Thr)	not provided [RCV003661470]	uncertain significance	8	47962833	47962833	Human		name
405076987	CV2948685	single nucleotide variant	NM_182746.3(MCM4):c.683C>T (p.Ser228Phe)	not provided [RCV003664321]	uncertain significance	8	47963030	47963030	Human		name
11608635	CV305451	single nucleotide variant	NM_182746.3(MCM4):c.715A>G (p.Met239Val)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000357812]	uncertain significance	8	47964595	47964595	Human	1	name
11605736	CV309326	single nucleotide variant	NM_182746.3(MCM4):c.811A>G (p.Met271Val)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000323327]\|not provided [RCV001850922]\|not specified [RCV004022076]	uncertain significance	8	47964691	47964691	Human	1	name
404977167	CV3127134	single nucleotide variant	NM_182746.3(MCM4):c.725A>G (p.Asn242Ser)	not provided [RCV003825357]	uncertain significance	8	47964605	47964605	Human		name
11644750	CV314600	single nucleotide variant	NM_182746.3(MCM4):c.440G>A (p.Gly147Asp)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000261774]	uncertain significance	8	47962345	47962345	Human	1	name
11603763	CV314607	single nucleotide variant	NM_182746.3(MCM4):c.487A>G (p.Lys163Glu)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000302972]\|not provided [RCV001325448]	benign\|uncertain significance	8	47962392	47962392	Human	1	name
11599739	CV314609	single nucleotide variant	NM_182746.3(MCM4):c.743G>A (p.Arg248His)	MCM4-related disorder [RCV003922635]\|Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000268279]\|not provided [RCV000953580]	benign\|likely benign\|uncertain significance	8	47964623	47964623	Human	1	name , trait , alternate_id
11606242	CV314613	single nucleotide variant	NM_182746.3(MCM4):c.859G>A (p.Gly287Ser)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000329083]\|not provided [RCV001850923]	uncertain significance	8	47966213	47966213	Human	1	name
11608191	CV314639	single nucleotide variant	NM_182746.3(MCM4):c.961C>T (p.Arg321Cys)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000352214]\|not provided [RCV000881355]	benign\|uncertain significance	8	47966315	47966315	Human	1	name
11602784	CV314649	single nucleotide variant	NM_182746.3(MCM4):c.940C>T (p.Arg314Trp)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000293990]\|not provided [RCV003114515]\|not specified [RCV004022077]	uncertain significance	8	47966294	47966294	Human	1	name
405191895	CV3149791	single nucleotide variant	NM_182746.3(MCM4):c.557T>C (p.Ile186Thr)	not provided [RCV003843517]	uncertain significance	8	47962819	47962819	Human		name
405183097	CV3159696	single nucleotide variant	NM_182746.3(MCM4):c.442C>G (p.Gln148Glu)	not provided [RCV003858947]	uncertain significance	8	47962347	47962347	Human		name
405669610	CV3288850	single nucleotide variant	NM_182746.3(MCM4):c.668A>G (p.Tyr223Cys)	not specified [RCV004419230]	uncertain significance	8	47963015	47963015	Human		name
405669613	CV3288851	single nucleotide variant	NM_182746.3(MCM4):c.752A>G (p.Asp251Gly)	not specified [RCV004419231]	uncertain significance	8	47964632	47964632	Human		name
597649217	CV3703195	single nucleotide variant	NM_182746.3(MCM4):c.994C>T (p.His332Tyr)	not specified [RCV004942877]	uncertain significance	8	47966348	47966348	Human		name
597649225	CV3703196	single nucleotide variant	NM_182746.3(MCM4):c.527C>T (p.Pro176Leu)	not specified [RCV004942878]	uncertain significance	8	47962789	47962789	Human		name
597649234	CV3703197	single nucleotide variant	NM_182746.3(MCM4):c.807G>C (p.Lys269Asn)	not specified [RCV004942879]	uncertain significance	8	47964687	47964687	Human		name
597649242	CV3703198	single nucleotide variant	NM_182746.3(MCM4):c.883C>G (p.Leu295Val)	not specified [RCV004942880]	uncertain significance	8	47966237	47966237	Human		name
597963687	CV3754202	deletion	NM_182746.3(MCM4):c.1727del (p.Phe576fs)	not provided [RCV005082309]	uncertain significance	8	47970802	47970802	Human		name
597841564	CV3783473	single nucleotide variant	NM_182746.3(MCM4):c.503G>A (p.Arg168Lys)	not provided [RCV005116160]	uncertain significance	8	47962765	47962765	Human		name
597881214	CV3808720	single nucleotide variant	NM_182746.3(MCM4):c.419T>C (p.Val140Ala)	not provided [RCV005156234]	uncertain significance	8	47962324	47962324	Human		name
597916493	CV3841199	single nucleotide variant	NM_182746.3(MCM4):c.434C>T (p.Ser145Phe)	not provided [RCV005191318]	uncertain significance	8	47962339	47962339	Human		name
597921124	CV3850750	deletion	NM_182746.3(MCM4):c.59_60del (p.Pro20fs)	not provided [RCV005195883]	uncertain significance	8	47961200	47961201	Human		name
598211033	CV3992737	single nucleotide variant	NM_182746.3(MCM4):c.397G>A (p.Gly133Arg)	not specified [RCV005377954]	uncertain significance	8	47962214	47962214	Human		name
14399173	CV614323	single nucleotide variant	NM_182746.3(MCM4):c.604G>A (p.Val202Ile)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000768265]\|not provided [RCV003117550]	uncertain significance	8	47962951	47962951	Human	1	name
14688236	CV620300	duplication	NM_182746.3(MCM4):c.686dup (p.Tyr229Ter)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000779557]	uncertain significance	8	47963032	47963033	Human		name
28868777	CV899705	single nucleotide variant	NM_182746.3(MCM4):c.589C>T (p.Leu197Phe)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001162702]	uncertain significance	8	47962851	47962851	Human	1	name
28868781	CV899707	single nucleotide variant	NM_182746.3(MCM4):c.848T>C (p.Ile283Thr)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001162705]\|not provided [RCV001882516]	uncertain significance	8	47966202	47966202	Human	1	name
28873170	CV899708	single nucleotide variant	NM_182746.3(MCM4):c.899A>G (p.Gln300Arg)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001164760]\|not provided [RCV002032512]\|not specified [RCV004032874]	uncertain significance	8	47966253	47966253	Human	1	name
126728286	CV1008086	single nucleotide variant	NM_182746.3(MCM4):c.1784C>T (p.Thr595Ile)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001542419]\|not provided [RCV001312477]	uncertain significance	8	47970860	47970860	Human	1	name
126737592	CV1020497	single nucleotide variant	NM_182746.3(MCM4):c.1661G>A (p.Arg554Lys)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001335338]\|not provided [RCV002547338]	uncertain significance	8	47970737	47970737	Human	1	name
126737598	CV1020498	single nucleotide variant	NM_182746.3(MCM4):c.2101C>T (p.Arg701Trp)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001335339]\|not provided [RCV002546727]	uncertain significance	8	47973029	47973029	Human	1	name
126730943	CV1028604	single nucleotide variant	NM_182746.3(MCM4):c.1084C>T (p.Pro362Ser)	not provided [RCV001349345]\|not specified [RCV004935200]	uncertain significance	8	47967395	47967395	Human		name
126756803	CV1028605	single nucleotide variant	NM_182746.3(MCM4):c.1598C>T (p.Thr533Met)	not provided [RCV001339382]\|not specified [RCV004035896]	uncertain significance	8	47970674	47970674	Human		name
126912199	CV1045576	single nucleotide variant	NM_182746.3(MCM4):c.1149G>C (p.Gln383His)	not provided [RCV001369613]	uncertain significance	8	47967460	47967460	Human		name
151868045	CV1338373	single nucleotide variant	NM_182746.3(MCM4):c.2536G>A (p.Ala846Thr)	not provided [RCV001884781]	uncertain significance	8	47976722	47976722	Human		name
151842782	CV1339104	single nucleotide variant	NM_182746.3(MCM4):c.2297G>A (p.Arg766Gln)	not provided [RCV001977901]	uncertain significance	8	47974894	47974894	Human		name
151793903	CV1341023	single nucleotide variant	NM_182746.3(MCM4):c.2447C>G (p.Pro816Arg)	not provided [RCV001931678]\|not specified [RCV004631845]	uncertain significance	8	47975796	47975796	Human		name
151828261	CV1348230	single nucleotide variant	NM_182746.3(MCM4):c.1073C>T (p.Pro358Leu)	not provided [RCV001870278]\|not specified [RCV005374834]	uncertain significance	8	47967384	47967384	Human		name
151872297	CV1351558	single nucleotide variant	NM_182746.3(MCM4):c.1414G>A (p.Glu472Lys)	not provided [RCV001998510]	uncertain significance	8	47970037	47970037	Human		name
151726477	CV1352892	single nucleotide variant	NM_182746.3(MCM4):c.1879A>G (p.Lys627Glu)	not provided [RCV001891782]\|not specified [RCV005374871]	uncertain significance	8	47971419	47971419	Human		name
151880747	CV1360098	single nucleotide variant	NM_182746.3(MCM4):c.2216G>A (p.Arg739His)	not provided [RCV002036839]	uncertain significance	8	47974813	47974813	Human		name
151748900	CV1362660	single nucleotide variant	NM_182746.3(MCM4):c.2248T>G (p.Ser750Ala)	not provided [RCV001968970]	uncertain significance	8	47974845	47974845	Human		name
151826488	CV1363540	single nucleotide variant	NM_182746.3(MCM4):c.1832C>T (p.Thr611Ile)	not provided [RCV002050300]	uncertain significance	8	47971372	47971372	Human		name
151728157	CV1366562	single nucleotide variant	NM_182746.3(MCM4):c.1828C>T (p.Arg610Cys)	not provided [RCV001945767]	uncertain significance	8	47971368	47971368	Human		name
151834182	CV1369847	single nucleotide variant	NM_182746.3(MCM4):c.1212A>C (p.Arg404Ser)	not provided [RCV001920791]	uncertain significance	8	47969835	47969835	Human		name
151711145	CV1373494	single nucleotide variant	NM_182746.3(MCM4):c.1378G>A (p.Glu460Lys)	not provided [RCV001889408]\|not specified [RCV004039125]	uncertain significance	8	47970001	47970001	Human		name
151859488	CV1373905	single nucleotide variant	NM_182746.3(MCM4):c.2333C>G (p.Thr778Ser)	not provided [RCV001938356]	uncertain significance	8	47974930	47974930	Human		name
151852409	CV1376065	single nucleotide variant	NM_182746.3(MCM4):c.2092A>G (p.Ile698Val)	not provided [RCV001996135]	uncertain significance	8	47973020	47973020	Human		name
151851664	CV1378186	single nucleotide variant	NM_182746.3(MCM4):c.2497A>C (p.Ile833Leu)	not provided [RCV002016670]	uncertain significance	8	47975846	47975846	Human		name
151819176	CV1385822	single nucleotide variant	NM_182746.3(MCM4):c.1754C>G (p.Ser585Trp)	not provided [RCV002013201]	uncertain significance	8	47970830	47970830	Human		name
151861488	CV1386267	single nucleotide variant	NM_182746.3(MCM4):c.1344G>C (p.Leu448Phe)	not provided [RCV001905339]	uncertain significance	8	47969967	47969967	Human		name
151736533	CV1387835	single nucleotide variant	NM_182746.3(MCM4):c.1028G>A (p.Arg343His)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV005042630]\|not provided [RCV002005364]	uncertain significance	8	47966382	47966382	Human	1	name
151714595	CV1388594	single nucleotide variant	NM_182746.3(MCM4):c.1271C>T (p.Thr424Met)	not provided [RCV002002680]	uncertain significance	8	47969894	47969894	Human		name
151729294	CV1388793	single nucleotide variant	NM_182746.3(MCM4):c.2170C>T (p.Arg724Trp)	not provided [RCV001966939]\|not specified [RCV004042186]	uncertain significance	8	47974767	47974767	Human		name
151856109	CV1392221	single nucleotide variant	NM_182746.3(MCM4):c.2215C>T (p.Arg739Cys)	not provided [RCV001883354]	uncertain significance	8	47974812	47974812	Human		name
151879717	CV1395658	single nucleotide variant	NM_182746.3(MCM4):c.1177A>G (p.Ile393Val)	not provided [RCV001999374]	uncertain significance	8	47969800	47969800	Human		name
151859267	CV1398418	single nucleotide variant	NM_182746.3(MCM4):c.2288G>A (p.Arg763His)	not provided [RCV002017555]	uncertain significance	8	47974885	47974885	Human		name
151775943	CV1398875	single nucleotide variant	NM_182746.3(MCM4):c.2533C>T (p.Arg845Cys)	not provided [RCV001929978]\|not specified [RCV004641719]	uncertain significance	8	47976719	47976719	Human		name
151774482	CV1402392	single nucleotide variant	NM_182746.3(MCM4):c.1491G>C (p.Arg497Ser)	not provided [RCV001929845]	uncertain significance	8	47970567	47970567	Human		name
151744131	CV1406835	single nucleotide variant	NM_182746.3(MCM4):c.1754C>T (p.Ser585Leu)	not provided [RCV002006120]\|not specified [RCV004045212]	uncertain significance	8	47970830	47970830	Human		name
151883287	CV1411912	single nucleotide variant	NM_182746.3(MCM4):c.1496A>G (p.Lys499Arg)	not provided [RCV001962096]\|not specified [RCV004040356]	uncertain significance	8	47970572	47970572	Human		name
151796103	CV1415696	single nucleotide variant	NM_182746.3(MCM4):c.2243G>A (p.Arg748Lys)	not provided [RCV001898631]\|not specified [RCV004041536]	uncertain significance	8	47974840	47974840	Human		name
151725311	CV1418172	single nucleotide variant	NM_182746.3(MCM4):c.2065G>A (p.Asp689Asn)	not provided [RCV001891644]	uncertain significance	8	47972993	47972993	Human		name
151808632	CV1423400	single nucleotide variant	NM_182746.3(MCM4):c.1762C>T (p.His588Tyr)	not provided [RCV002012215]\|not specified [RCV004043883]	uncertain significance	8	47970838	47970838	Human		name
151824615	CV1424990	single nucleotide variant	NM_182746.3(MCM4):c.1981C>T (p.Arg661Cys)	not provided [RCV001901211]\|not specified [RCV004041565]	uncertain significance	8	47972909	47972909	Human		name
151715462	CV1434820	single nucleotide variant	NM_182746.3(MCM4):c.2200C>A (p.Leu734Ile)	not provided [RCV001890250]	uncertain significance	8	47974797	47974797	Human		name
151738509	CV1437426	single nucleotide variant	NM_182746.3(MCM4):c.1982G>A (p.Arg661His)	not provided [RCV001870776]	uncertain significance	8	47972910	47972910	Human		name
151735390	CV1440675	single nucleotide variant	NM_182746.3(MCM4):c.2482C>T (p.Arg828Trp)	not provided [RCV001911333]\|not specified [RCV004041749]	uncertain significance	8	47975831	47975831	Human		name
151820799	CV1443109	single nucleotide variant	NM_182746.3(MCM4):c.1075G>C (p.Glu359Gln)	not provided [RCV002049780]	uncertain significance	8	47967386	47967386	Human		name
151820871	CV1443139	single nucleotide variant	NM_182746.3(MCM4):c.1199G>A (p.Arg400Gln)	not provided [RCV002049788]\|not specified [RCV005369969]	uncertain significance	8	47969822	47969822	Human		name
151838263	CV1445354	single nucleotide variant	NM_182746.3(MCM4):c.2384G>A (p.Arg795His)	not provided [RCV001994427]	uncertain significance	8	47975733	47975733	Human		name
151834832	CV1446901	single nucleotide variant	NM_182746.3(MCM4):c.1259A>G (p.His420Arg)	not provided [RCV002031172]	uncertain significance	8	47969882	47969882	Human		name
151786072	CV1456200	single nucleotide variant	NM_182746.3(MCM4):c.2465A>C (p.Gln822Pro)	not provided [RCV002046619]	uncertain significance	8	47975814	47975814	Human		name
151824496	CV1456441	single nucleotide variant	NM_182746.3(MCM4):c.2389C>T (p.Arg797Trp)	not provided [RCV002050122]\|not specified [RCV004038744]	uncertain significance	8	47975738	47975738	Human		name
151829350	CV1465510	single nucleotide variant	NM_182746.3(MCM4):c.2528C>G (p.Ala843Gly)	not provided [RCV002014160]	uncertain significance	8	47976714	47976714	Human		name
151870671	CV1466555	single nucleotide variant	NM_182746.3(MCM4):c.2095A>G (p.Met699Val)	not provided [RCV001906434]	uncertain significance	8	47973023	47973023	Human		name
151826968	CV1467366	single nucleotide variant	NM_182746.3(MCM4):c.1265G>A (p.Arg422Gln)	not provided [RCV001901421]	uncertain significance	8	47969888	47969888	Human		name
151754245	CV1467559	single nucleotide variant	NM_182746.3(MCM4):c.2122C>T (p.Gln708Ter)	not provided [RCV001948458]	uncertain significance	8	47973050	47973050	Human		name
151797326	CV1467677	single nucleotide variant	NM_182746.3(MCM4):c.1226A>T (p.Lys409Met)	not provided [RCV001952598]	uncertain significance	8	47969849	47969849	Human		name
151882970	CV1474900	single nucleotide variant	NM_182746.3(MCM4):c.1301A>G (p.Glu434Gly)	not provided [RCV001941409]	uncertain significance	8	47969924	47969924	Human		name
151871727	CV1480547	single nucleotide variant	NM_182746.3(MCM4):c.1876C>G (p.Pro626Ala)	not provided [RCV001906574]	uncertain significance	8	47971416	47971416	Human		name
151783870	CV1491942	single nucleotide variant	NM_182746.3(MCM4):c.1090G>A (p.Gly364Arg)	not provided [RCV002026520]	uncertain significance	8	47967401	47967401	Human		name
151833786	CV1493246	single nucleotide variant	NM_182746.3(MCM4):c.2137G>A (p.Ala713Thr)	not provided [RCV001935320]\|not specified [RCV004042682]	uncertain significance	8	47974734	47974734	Human		name
151878584	CV1493875	single nucleotide variant	NM_182746.3(MCM4):c.2176A>G (p.Met726Val)	not provided [RCV001982217]	uncertain significance	8	47974773	47974773	Human		name
151788087	CV1495678	single nucleotide variant	NM_182746.3(MCM4):c.1169T>C (p.Val390Ala)	not provided [RCV002026942]	uncertain significance	8	47967480	47967480	Human		name
151875443	CV1507875	single nucleotide variant	NM_182746.3(MCM4):c.2084A>G (p.His695Arg)	not provided [RCV001960983]	uncertain significance	8	47973012	47973012	Human		name
151860893	CV1511040	single nucleotide variant	NM_182746.3(MCM4):c.1306G>A (p.Ala436Thr)	not provided [RCV001959211]\|not specified [RCV004044546]	uncertain significance	8	47969929	47969929	Human		name
151812117	CV1515841	single nucleotide variant	NM_182746.3(MCM4):c.1179C>G (p.Ile393Met)	not provided [RCV002012540]	uncertain significance	8	47969802	47969802	Human		name
155745847	CV1771596	single nucleotide variant	NM_182746.3(MCM4):c.2295T>A (p.His765Gln)	not provided [RCV002303377]	uncertain significance	8	47974892	47974892	Human		name
156348183	CV1889402	single nucleotide variant	NM_182746.3(MCM4):c.2078A>G (p.Tyr693Cys)	not provided [RCV003090762]\|not specified [RCV004636647]	uncertain significance	8	47973006	47973006	Human		name
156341876	CV1896841	single nucleotide variant	NM_182746.3(MCM4):c.1334G>A (p.Arg445His)	not provided [RCV003090410]	uncertain significance	8	47969957	47969957	Human		name
156322347	CV1897955	single nucleotide variant	NM_182746.3(MCM4):c.2192C>T (p.Pro731Leu)	not provided [RCV002579331]	uncertain significance	8	47974789	47974789	Human		name
156319646	CV1900415	single nucleotide variant	NM_182746.3(MCM4):c.2188T>C (p.Tyr730His)	not provided [RCV003088923]	uncertain significance	8	47974785	47974785	Human		name
156257495	CV1905505	single nucleotide variant	NM_182746.3(MCM4):c.1193C>T (p.Pro398Leu)	not provided [RCV003086324]	uncertain significance	8	47969816	47969816	Human		name
156414572	CV1908791	single nucleotide variant	NM_182746.3(MCM4):c.1966G>A (p.Glu656Lys)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV005050743]\|not provided [RCV002588684]\|not specified [RCV004935310]	uncertain significance	8	47972894	47972894	Human	1	name
156105916	CV1917207	single nucleotide variant	NM_182746.3(MCM4):c.1361G>A (p.Arg454Lys)	not provided [RCV002592447]\|not specified [RCV004068990]	uncertain significance	8	47969984	47969984	Human		name
156369061	CV1922706	single nucleotide variant	NM_182746.3(MCM4):c.2537C>T (p.Ala846Val)	not provided [RCV002633228]	uncertain significance	8	47976723	47976723	Human		name
156050848	CV1931877	single nucleotide variant	NM_182746.3(MCM4):c.1222G>A (p.Val408Met)	not provided [RCV002620600]	uncertain significance	8	47969845	47969845	Human		name
156397872	CV1965790	single nucleotide variant	NM_182746.3(MCM4):c.2054C>T (p.Ala685Val)	not provided [RCV002584558]\|not specified [RCV005370240]	uncertain significance	8	47972982	47972982	Human		name
156419864	CV1967520	single nucleotide variant	NM_182746.3(MCM4):c.1247T>C (p.Ile416Thr)	not provided [RCV002613110]	uncertain significance	8	47969870	47969870	Human		name
156378654	CV1971573	single nucleotide variant	NM_182746.3(MCM4):c.1012G>A (p.Ala338Thr)	not provided [RCV002603799]	uncertain significance	8	47966366	47966366	Human		name
156055948	CV1974571	single nucleotide variant	NM_182746.3(MCM4):c.1735A>G (p.Met579Val)	not provided [RCV002590815]	uncertain significance	8	47970811	47970811	Human		name
156322203	CV1976214	single nucleotide variant	NM_182746.3(MCM4):c.1567G>A (p.Val523Met)	not provided [RCV002600307]	uncertain significance	8	47970643	47970643	Human		name
155965387	CV1977934	single nucleotide variant	NM_182746.3(MCM4):c.2080G>A (p.Ala694Thr)	not provided [RCV002616930]	uncertain significance	8	47973008	47973008	Human		name
156381296	CV1978751	single nucleotide variant	NM_182746.3(MCM4):c.2002G>A (p.Ala668Thr)	not provided [RCV002603983]\|not specified [RCV005370253]	uncertain significance	8	47972930	47972930	Human		name
155911229	CV1980177	single nucleotide variant	NM_182746.3(MCM4):c.1027C>T (p.Arg343Cys)	MCM4-related disorder [RCV003427490]\|not provided [RCV002614006]	uncertain significance	8	47966381	47966381	Human	1	name , trait , alternate_id
156348931	CV1989295	single nucleotide variant	NM_182746.3(MCM4):c.2497A>G (p.Ile833Val)	not provided [RCV002631837]	uncertain significance	8	47975846	47975846	Human		name
156337610	CV1997317	single nucleotide variant	NM_182746.3(MCM4):c.2338A>C (p.Ile780Leu)	not provided [RCV002650150]	uncertain significance	8	47974935	47974935	Human		name
156323066	CV2022304	single nucleotide variant	NM_182746.3(MCM4):c.2129T>A (p.Leu710His)	not provided [RCV002717223]	uncertain significance	8	47973057	47973057	Human		name
156044911	CV2026549	single nucleotide variant	NM_182746.3(MCM4):c.1822A>G (p.Asn608Asp)	not provided [RCV002736317]	uncertain significance	8	47971362	47971362	Human		name
155946977	CV2028998	single nucleotide variant	NM_182746.3(MCM4):c.1075G>A (p.Glu359Lys)	not provided [RCV002730461]	uncertain significance	8	47967386	47967386	Human		name
156208972	CV2036725	single nucleotide variant	NM_182746.3(MCM4):c.2063A>G (p.Lys688Arg)	not provided [RCV002790167]\|not specified [RCV004935278]	likely benign\|uncertain significance	8	47972991	47972991	Human		name
155910843	CV2041332	single nucleotide variant	NM_182746.3(MCM4):c.1051A>T (p.Met351Leu)	not provided [RCV002771571]	uncertain significance	8	47966405	47966405	Human		name
156043616	CV2049856	single nucleotide variant	NM_182746.3(MCM4):c.1428A>G (p.Ile476Met)	not provided [RCV002796528]	uncertain significance	8	47970051	47970051	Human		name
156080334	CV2050020	single nucleotide variant	NM_182746.3(MCM4):c.2072T>C (p.Ile691Thr)	not provided [RCV002823834]	uncertain significance	8	47973000	47973000	Human		name
156290891	CV2055220	single nucleotide variant	NM_182746.3(MCM4):c.1600T>C (p.Ser534Pro)	not provided [RCV002833199]	uncertain significance	8	47970676	47970676	Human		name
156176492	CV2061979	single nucleotide variant	NM_182746.3(MCM4):c.2543C>G (p.Ala848Gly)	not provided [RCV002828161]	uncertain significance	8	47976729	47976729	Human		name
156348753	CV2061980	single nucleotide variant	NM_182746.3(MCM4):c.2586G>T (p.Leu862Phe)	not provided [RCV002811623]	uncertain significance	8	47976772	47976772	Human		name
156221844	CV2067929	single nucleotide variant	NM_182746.3(MCM4):c.1280A>C (p.Lys427Thr)	not provided [RCV002829715]	uncertain significance	8	47969903	47969903	Human		name
155938257	CV2071669	single nucleotide variant	NM_182746.3(MCM4):c.1936T>G (p.Leu646Val)	not provided [RCV002839234]	uncertain significance	8	47972864	47972864	Human		name
155917203	CV2091835	single nucleotide variant	NM_182746.3(MCM4):c.1051A>G (p.Met351Val)	not provided [RCV002903156]	uncertain significance	8	47966405	47966405	Human		name
156322405	CV2112142	single nucleotide variant	NM_182746.3(MCM4):c.1684G>A (p.Ala562Thr)	not provided [RCV002937848]	uncertain significance	8	47970760	47970760	Human		name
156018543	CV2114682	single nucleotide variant	NM_182746.3(MCM4):c.1192C>T (p.Pro398Ser)	not provided [RCV002909498]	uncertain significance	8	47969815	47969815	Human		name
156355959	CV2126050	single nucleotide variant	NM_182746.3(MCM4):c.2296C>G (p.Arg766Gly)	not provided [RCV002966661]	uncertain significance	8	47974893	47974893	Human		name
155957049	CV2140251	single nucleotide variant	NM_182746.3(MCM4):c.1104C>A (p.His368Gln)	not provided [RCV002994953]	uncertain significance	8	47967415	47967415	Human		name
156294438	CV2162506	single nucleotide variant	NM_182746.3(MCM4):c.1963G>A (p.Asp655Asn)	not provided [RCV003045274]	uncertain significance	8	47972891	47972891	Human		name
155955466	CV2162540	single nucleotide variant	NM_182746.3(MCM4):c.2363C>T (p.Thr788Met)	not provided [RCV003015075]	uncertain significance	8	47974960	47974960	Human		name
156221811	CV2168367	single nucleotide variant	NM_182746.3(MCM4):c.1531G>A (p.Asp511Asn)	not provided [RCV003042752]	uncertain significance	8	47970607	47970607	Human		name
156091922	CV2172920	single nucleotide variant	NM_182746.3(MCM4):c.2350T>G (p.Ser784Ala)	not provided [RCV003054392]	uncertain significance	8	47974947	47974947	Human		name
156365817	CV2193278	single nucleotide variant	NM_182746.3(MCM4):c.1112T>C (p.Ile371Thr)	not specified [RCV004071255]	uncertain significance	8	47967423	47967423	Human		name
156051532	CV2269368	single nucleotide variant	NM_182746.3(MCM4):c.2117C>T (p.Ala706Val)	not specified [RCV004124500]	uncertain significance	8	47973045	47973045	Human		name
156273011	CV2283755	single nucleotide variant	NM_182746.3(MCM4):c.1660A>G (p.Arg554Gly)	not specified [RCV004142276]	uncertain significance	8	47970736	47970736	Human		name
401722020	CV2710291	single nucleotide variant	NM_182746.3(MCM4):c.2281G>A (p.Ala761Thr)	not specified [RCV004317180]	uncertain significance	8	47974878	47974878	Human		name
401738078	CV2714316	single nucleotide variant	NM_182746.3(MCM4):c.2347A>G (p.Ile783Val)	not provided [RCV005102629]\|not specified [RCV004315997]	uncertain significance	8	47974944	47974944	Human		name
405008458	CV2926707	single nucleotide variant	NM_182746.3(MCM4):c.1972T>C (p.Tyr658His)	not provided [RCV003576438]	uncertain significance	8	47972900	47972900	Human		name
402505933	CV2927802	single nucleotide variant	NM_182746.3(MCM4):c.1928G>C (p.Arg643Thr)	not provided [RCV003574456]	uncertain significance	8	47971468	47971468	Human		name
402470192	CV2931368	single nucleotide variant	NM_182746.3(MCM4):c.2138C>T (p.Ala713Val)	not provided [RCV003570304]	uncertain significance	8	47974735	47974735	Human		name
402483896	CV2937505	single nucleotide variant	NM_182746.3(MCM4):c.2455A>C (p.Lys819Gln)	not provided [RCV003659798]	uncertain significance	8	47975804	47975804	Human		name
402504566	CV2937857	single nucleotide variant	NM_182746.3(MCM4):c.2462A>G (p.Gln821Arg)	not provided [RCV003661861]	uncertain significance	8	47975811	47975811	Human		name
405111039	CV2942141	single nucleotide variant	NM_182746.3(MCM4):c.2236A>G (p.Lys746Glu)	not provided [RCV003666311]	uncertain significance	8	47974833	47974833	Human		name
402485959	CV2944961	single nucleotide variant	NM_182746.3(MCM4):c.2453T>C (p.Leu818Pro)	not provided [RCV003659988]	uncertain significance	8	47975802	47975802	Human		name
402522212	CV3011310	single nucleotide variant	NM_182746.3(MCM4):c.1009A>G (p.Met337Val)	not provided [RCV003716517]	uncertain significance	8	47966363	47966363	Human		name
402523021	CV3011417	single nucleotide variant	NM_182746.3(MCM4):c.1847C>T (p.Ala616Val)	not provided [RCV003716576]	uncertain significance	8	47971387	47971387	Human		name
11608828	CV305467	single nucleotide variant	NM_182746.3(MCM4):c.1829G>A (p.Arg610His)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000359934]\|not provided [RCV002058738]	likely benign\|uncertain significance	8	47971369	47971369	Human	1	name
405226603	CV3069332	single nucleotide variant	NM_182746.3(MCM4):c.2330G>A (p.Arg777Gln)	not provided [RCV003734161]	uncertain significance	8	47974927	47974927	Human		name
405080525	CV3137182	single nucleotide variant	NM_182746.3(MCM4):c.1082T>G (p.Met361Arg)	not provided [RCV003834081]	uncertain significance	8	47967393	47967393	Human		name
405201794	CV3143586	single nucleotide variant	NM_182746.3(MCM4):c.1282C>T (p.Arg428Cys)	not provided [RCV003844572]	uncertain significance	8	47969905	47969905	Human		name
11603426	CV314648	single nucleotide variant	NM_182746.3(MCM4):c.1419T>G (p.His473Gln)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000299733]	uncertain significance	8	47970042	47970042	Human	1	name
11604098	CV314652	single nucleotide variant	NM_182746.3(MCM4):c.1948T>A (p.Leu650Met)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000306312]\|not provided [RCV001518422]\|not specified [RCV000455613]	benign	8	47972876	47972876	Human	23	name
11604098	CV314652	single nucleotide variant	NM_182746.3(MCM4):c.1948T>A (p.Leu650Met)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000306312]\|not provided [RCV001518422]\|not specified [RCV000455613]	benign	8	47972876	47972877	Human	23	name
11611906	CV314661	single nucleotide variant	NM_182746.3(MCM4):c.1264C>T (p.Arg422Trp)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000400890]\|not provided [RCV001861324]	uncertain significance	8	47969887	47969887	Human	1	name
11663088	CV314669	single nucleotide variant	NM_182746.3(MCM4):c.1844C>G (p.Ala615Gly)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV000392076]	uncertain significance	8	47971384	47971384	Human	1	name
405199576	CV3147185	single nucleotide variant	NM_182746.3(MCM4):c.2417A>G (p.Lys806Arg)	not provided [RCV003844345]	uncertain significance	8	47975766	47975766	Human		name
405156134	CV3152490	single nucleotide variant	NM_182746.3(MCM4):c.1672C>G (p.Leu558Val)	not provided [RCV003840417]	uncertain significance	8	47970748	47970748	Human		name
405222107	CV3158219	single nucleotide variant	NM_182746.3(MCM4):c.2464C>T (p.Gln822Ter)	not provided [RCV003863715]	uncertain significance	8	47975813	47975813	Human		name
405211017	CV3162756	single nucleotide variant	NM_182746.3(MCM4):c.1184G>A (p.Arg395Gln)	not provided [RCV003862055]	uncertain significance	8	47969807	47969807	Human		name
402483222	CV3170971	single nucleotide variant	NM_182746.3(MCM4):c.1333C>T (p.Arg445Cys)	not provided [RCV003876174]\|not specified [RCV004935369]	uncertain significance	8	47969956	47969956	Human		name
402468422	CV3174506	single nucleotide variant	NM_182746.3(MCM4):c.1516A>T (p.Ile506Phe)	not provided [RCV003873616]\|not specified [RCV005377609]	uncertain significance	8	47970592	47970592	Human		name
405669588	CV3288845	single nucleotide variant	NM_182746.3(MCM4):c.1295T>G (p.Leu432Arg)	not specified [RCV004419225]	uncertain significance	8	47969918	47969918	Human		name
405669593	CV3288846	single nucleotide variant	NM_182746.3(MCM4):c.1336G>A (p.Val446Met)	not specified [RCV004419226]	uncertain significance	8	47969959	47969959	Human		name
405669596	CV3288847	single nucleotide variant	NM_182746.3(MCM4):c.1720G>A (p.Asp574Asn)	not specified [RCV004419227]	uncertain significance	8	47970796	47970796	Human		name
405669600	CV3288848	single nucleotide variant	NM_182746.3(MCM4):c.2125G>A (p.Ala709Thr)	not specified [RCV004419228]	uncertain significance	8	47973053	47973053	Human		name
407473459	CV3453284	single nucleotide variant	NM_182746.3(MCM4):c.1639G>A (p.Val547Ile)	not specified [RCV004637861]	uncertain significance	8	47970715	47970715	Human		name
407473463	CV3453285	single nucleotide variant	NM_182746.3(MCM4):c.1078G>A (p.Asp360Asn)	not specified [RCV004637862]	uncertain significance	8	47967389	47967389	Human		name
597649183	CV3703191	single nucleotide variant	NM_182746.3(MCM4):c.1579G>A (p.Val527Ile)	not specified [RCV004942873]	uncertain significance	8	47970655	47970655	Human		name
597649191	CV3703192	single nucleotide variant	NM_182746.3(MCM4):c.1279A>G (p.Lys427Glu)	not specified [RCV004942874]	uncertain significance	8	47969902	47969902	Human		name
597649200	CV3703193	single nucleotide variant	NM_182746.3(MCM4):c.2516T>C (p.Met839Thr)	not specified [RCV004942875]	uncertain significance	8	47976702	47976702	Human		name
597649208	CV3703194	single nucleotide variant	NM_182746.3(MCM4):c.1307C>T (p.Ala436Val)	not specified [RCV004942876]	uncertain significance	8	47969930	47969930	Human		name
597844672	CV3736159	single nucleotide variant	NM_182746.3(MCM4):c.1104C>G (p.His368Gln)	not provided [RCV005065507]	uncertain significance	8	47967415	47967415	Human		name
597830425	CV3743006	single nucleotide variant	NM_182746.3(MCM4):c.2042T>A (p.Leu681His)	not provided [RCV005062014]	uncertain significance	8	47972970	47972970	Human		name
597830773	CV3743313	single nucleotide variant	NM_182746.3(MCM4):c.2430A>C (p.Leu810Phe)	not provided [RCV005062321]	uncertain significance	8	47975779	47975779	Human		name
597942055	CV3757536	single nucleotide variant	NM_182746.3(MCM4):c.2381C>G (p.Ser794Cys)	not provided [RCV005077722]	uncertain significance	8	47975730	47975730	Human		name
597967511	CV3760657	single nucleotide variant	NM_182746.3(MCM4):c.2051T>C (p.Met684Thr)	not provided [RCV005083224]	uncertain significance	8	47972979	47972979	Human		name
597853421	CV3781544	single nucleotide variant	NM_182746.3(MCM4):c.1991A>G (p.His664Arg)	not provided [RCV005128232]	uncertain significance	8	47972919	47972919	Human		name
597844457	CV3786979	single nucleotide variant	NM_182746.3(MCM4):c.1319T>A (p.Leu440His)	not provided [RCV005119799]	uncertain significance	8	47969942	47969942	Human		name
597864349	CV3794705	single nucleotide variant	NM_182746.3(MCM4):c.1264C>G (p.Arg422Gly)	not provided [RCV005138610]	uncertain significance	8	47969887	47969887	Human		name
597874866	CV3799354	single nucleotide variant	NM_182746.3(MCM4):c.1026C>G (p.Asn342Lys)	not provided [RCV005150021]	uncertain significance	8	47966380	47966380	Human		name
597872700	CV3802849	single nucleotide variant	NM_182746.3(MCM4):c.1083G>A (p.Met361Ile)	not provided [RCV005147636]	uncertain significance	8	47967394	47967394	Human		name
597876059	CV3804893	single nucleotide variant	NM_182746.3(MCM4):c.1294C>G (p.Leu432Val)	not provided [RCV005151155]	uncertain significance	8	47969917	47969917	Human		name
597876264	CV3805082	single nucleotide variant	NM_182746.3(MCM4):c.1277C>T (p.Ala426Val)	not provided [RCV005151344]	uncertain significance	8	47969900	47969900	Human		name
597871455	CV3816685	single nucleotide variant	NM_182746.3(MCM4):c.2396A>C (p.Glu799Ala)	not provided [RCV005146258]	uncertain significance	8	47975745	47975745	Human		name
597905605	CV3834674	single nucleotide variant	NM_182746.3(MCM4):c.2416A>G (p.Lys806Glu)	not provided [RCV005180585]	uncertain significance	8	47975765	47975765	Human		name
597903725	CV3834763	single nucleotide variant	NM_182746.3(MCM4):c.2483G>A (p.Arg828Gln)	not provided [RCV005178486]	uncertain significance	8	47975832	47975832	Human		name
598239286	CV3992741	single nucleotide variant	NM_182746.3(MCM4):c.2356C>T (p.Leu786Phe)	not specified [RCV005364402]	uncertain significance	8	47974953	47974953	Human		name
598239293	CV3992742	single nucleotide variant	NM_182746.3(MCM4):c.1072C>A (p.Pro358Thr)	not specified [RCV005364403]	uncertain significance	8	47967383	47967383	Human		name
13611201	CV514573	single nucleotide variant	NM_182746.3(MCM4):c.2461C>T (p.Gln821Ter)	not provided [RCV000627351]	uncertain significance	8	47975810	47975810	Human		name
15190328	CV700602	single nucleotide variant	NM_182746.3(MCM4):c.2534G>A (p.Arg845His)	not provided [RCV000954442]	likely benign	8	47976720	47976720	Human		name
15097904	CV723131	single nucleotide variant	NM_182746.3(MCM4):c.1406G>C (p.Ser469Thr)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001159847]\|not provided [RCV000891609]	likely benign\|conflicting interpretations of pathogenicity	8	47970029	47970029	Human	1	name
38597050	CV801846	single nucleotide variant	NM_182746.3(MCM4):c.1205A>G (p.Asn402Ser)	Microcephaly [RCV001252863]\|not provided [RCV001360907]\|not specified [RCV004935176]	uncertain significance	8	47969828	47969828	Human	2	name
28907976	CV899709	single nucleotide variant	NM_182746.3(MCM4):c.1097C>T (p.Thr366Ile)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001159845]\|not provided [RCV002558507]	uncertain significance	8	47967408	47967408	Human	1	name
28907978	CV899710	single nucleotide variant	NM_182746.3(MCM4):c.1103A>C (p.His368Pro)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001159846]	uncertain significance	8	47967414	47967414	Human	1	name
28907982	CV899711	single nucleotide variant	NM_182746.3(MCM4):c.1511T>C (p.Ile504Thr)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001159848]	uncertain significance	8	47970587	47970587	Human	1	name
28868938	CV899713	single nucleotide variant	NM_182746.3(MCM4):c.1973A>G (p.Tyr658Cys)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001162800]\|not provided [RCV001882517]\|not specified [RCV004032865]	uncertain significance	8	47972901	47972901	Human	1	name
28868941	CV899714	single nucleotide variant	NM_182746.3(MCM4):c.2012A>G (p.Tyr671Cys)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001162801]\|not provided [RCV002557390]	uncertain significance	8	47972940	47972940	Human	1	name
28868945	CV899716	single nucleotide variant	NM_182746.3(MCM4):c.2102G>A (p.Arg701Gln)	MCM4-related disorder [RCV003928761]\|Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001162803]\|not provided [RCV001306854]	likely benign\|uncertain significance	8	47973030	47973030	Human	1	name , trait , alternate_id
28873402	CV899717	single nucleotide variant	NM_182746.3(MCM4):c.2257G>C (p.Val753Leu)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001164869]\|not provided [RCV001306733]	uncertain significance	8	47974854	47974854	Human	1	name
28873405	CV899718	single nucleotide variant	NM_182746.3(MCM4):c.2296C>T (p.Arg766Trp)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001164870]\|not provided [RCV001859057]	uncertain significance	8	47974893	47974893	Human	1	name
28873408	CV899719	single nucleotide variant	NM_182746.3(MCM4):c.2341G>A (p.Val781Met)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001164871]\|not provided [RCV001859058]\|not specified [RCV004639488]	uncertain significance	8	47974938	47974938	Human	1	name
28873412	CV899720	single nucleotide variant	NM_182746.3(MCM4):c.2531T>C (p.Leu844Pro)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001164873]	uncertain significance	8	47976717	47976717	Human	1	name
41406573	CV980462	single nucleotide variant	NM_182746.3(MCM4):c.2020G>A (p.Glu674Lys)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV001281040]	uncertain significance	8	47972948	47972948	Human	1	name
126754199	CV992853	single nucleotide variant	NM_182746.3(MCM4):c.2120G>T (p.Ser707Ile)	not provided [RCV001307573]	uncertain significance	8	47973048	47973048	Human		name
151808111	CV1365416	microsatellite	NM_182746.3(MCM4):c.538GAA[2] (p.Glu182del)	not provided [RCV001899687]	uncertain significance	8	47962798	47962800	Human		name
151819414	CV1415969	microsatellite	NM_182746.3(MCM4):c.401CAG[4] (p.Ala136dup)	not provided [RCV001919416]	uncertain significance	8	47962304	47962305	Human		name
155795934	CV1861571	microsatellite	NM_182746.3(MCM4):c.577_578del (p.Tyr193fs)	not provided [RCV002469854]	uncertain significance	8	47962837	47962838	Human		name
156130714	CV2002197	microsatellite	NM_182746.3(MCM4):c.732CTT[1] (p.Phe246del)	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [RCV003130740]\|not provided [RCV002663208]	uncertain significance	8	47964611	47964613	Human		name
150549303	CV1295084	microsatellite	NM_182746.3(MCM4):c.1106_1107del (p.Thr369fs)	not provided [RCV001765045]	uncertain significance	8	47967411	47967412	Human		name
597846807	CV3736452	deletion	NM_182746.3(MCM4):c.1323_1324del (p.Ser442fs)	not provided [RCV005060030]	uncertain significance	8	47969942	47969943	Human		name
156276188	CV2015020	indel	NM_182746.3(MCM4):c.1704_1705delinsTT (p.Gly569Cys)	not provided [RCV002715146]	uncertain significance	8	47970780	47970781	Human		name
156138881	CV2048270	indel	NM_182746.3(MCM4):c.1947_1948delinsTA (p.Leu650Met)	not provided [RCV002800878]	likely benign	8	47972875	47972876	Human		name
405051099	CV3025599	indel	NM_182746.3(MCM4):c.1948_1949delinsAC (p.Leu650Thr)	not provided [RCV003696988]	uncertain significance	8	47972876	47972877	Human		name

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