Atp6ap1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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317 records found for search term Atp6ap1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150490759	CV1210253	single nucleotide variant	NM_001183.6(ATP6AP1):c.*95A>G	not provided [RCV001592535]	likely benign	X	154435986	154435986	Human		name
150440988	CV1267004	single nucleotide variant	NM_001183.6(ATP6AP1):c.*261A>G	not provided [RCV001690440]	benign	X	154436152	154436152	Human		name
150540954	CV1297235	single nucleotide variant	NM_001183.6(ATP6AP1):c.288+5G>A	not provided [RCV001766917]	likely pathogenic\|uncertain significance	X	154429179	154429179	Human		name
150535326	CV1302111	single nucleotide variant	NM_001183.6(ATP6AP1):c.558-1G>T	not provided [RCV001758385]	uncertain significance	X	154432930	154432930	Human		name
152046393	CV1600344	single nucleotide variant	NM_001183.6(ATP6AP1):c.599-5C>T	not provided [RCV002088597]	benign	X	154433630	154433630	Human		name
152070653	CV1650854	single nucleotide variant	NM_001183.6(ATP6AP1):c.162-3C>T	not provided [RCV002148029]	benign	X	154429045	154429045	Human		name
152166699	CV1661367	single nucleotide variant	NM_001183.6(ATP6AP1):c.161+8G>A	not provided [RCV002124274]	likely benign	X	154428861	154428861	Human		name
152100068	CV1664065	single nucleotide variant	NM_001183.6(ATP6AP1):c.557+9C>T	not provided [RCV002078870]	likely benign	X	154432468	154432468	Human		name
155945800	CV1911292	single nucleotide variant	NM_001183.6(ATP6AP1):c.684+8C>T	not provided [RCV002615925]	likely benign	X	154433728	154433728	Human		name
156438439	CV1947043	single nucleotide variant	NM_001183.6(ATP6AP1):c.288+8C>T	not provided [RCV003108382]	likely benign	X	154429182	154429182	Human		name
155901246	CV1975656	single nucleotide variant	NM_001183.6(ATP6AP1):c.289-3T>C	not provided [RCV002613400]	uncertain significance	X	154431827	154431827	Human		name
156019249	CV2029167	single nucleotide variant	NM_001183.6(ATP6AP1):c.364-8G>A	not provided [RCV002735296]	likely benign	X	154432258	154432258	Human		name
155917007	CV2031880	single nucleotide variant	NM_001183.6(ATP6AP1):c.557+6G>A	Inborn genetic diseases [RCV002727185]\|not provided [RCV002727184]	uncertain significance	X	154432465	154432465	Human	1	name
156017312	CV2083591	single nucleotide variant	NM_001183.6(ATP6AP1):c.162-9C>T	not provided [RCV002866425]	likely benign	X	154429039	154429039	Human		name
156021458	CV2111062	single nucleotide variant	NM_001183.6(ATP6AP1):c.557+5T>C	not provided [RCV002909634]	uncertain significance	X	154432464	154432464	Human		name
405238089	CV2881401	single nucleotide variant	NM_001183.6(ATP6AP1):c.599-9G>A	not provided [RCV003556800]	likely benign	X	154433626	154433626	Human		name
405126914	CV2939595	single nucleotide variant	NM_001183.6(ATP6AP1):c.923+7G>A	not provided [RCV003672045]	likely benign	X	154434453	154434453	Human		name
405237738	CV2969813	single nucleotide variant	NM_001183.6(ATP6AP1):c.162-9C>A	not provided [RCV003683286]	likely benign	X	154429039	154429039	Human		name
405149335	CV3024244	single nucleotide variant	NM_001183.6(ATP6AP1):c.289-8C>T	not provided [RCV003703116]	likely benign	X	154431822	154431822	Human		name
597946406	CV3807503	single nucleotide variant	NM_001183.6(ATP6AP1):c.558-9C>T	not provided [RCV005160138]	likely benign	X	154432922	154432922	Human		name
597831624	CV3863880	single nucleotide variant	NM_001183.6(ATP6AP1):c.289-6T>C	Immunodeficiency 47 [RCV005208294]	uncertain significance	X	154431824	154431824	Human	1	name
14710184	CV671190	single nucleotide variant	NM_001183.6(ATP6AP1):c.289-135=	Immunodeficiency 47 [RCV001553938]\|not provided [RCV000843501]	benign	X	154431695	154431695	Human	1	name
150422534	CV1182079	single nucleotide variant	NM_001183.6(ATP6AP1):c.288+68C>G	not provided [RCV001552772]	likely benign	X	154429242	154429242	Human		name
150456646	CV1249961	single nucleotide variant	NM_001183.6(ATP6AP1):c.924-27A>G	not provided [RCV001668858]	benign	X	154435112	154435112	Human		name
151846431	CV1495157	single nucleotide variant	NM_001183.6(ATP6AP1):c.1203+3A>T	not provided [RCV001978341]	uncertain significance	X	154435508	154435508	Human		name
152124098	CV1527618	single nucleotide variant	NM_001183.6(ATP6AP1):c.599-18C>T	not provided [RCV002081970]	likely benign	X	154433617	154433617	Human		name
152148452	CV1566272	single nucleotide variant	NM_001183.6(ATP6AP1):c.364-17C>T	not provided [RCV002139158]	likely benign	X	154432249	154432249	Human		name
152054895	CV1633123	single nucleotide variant	NM_001183.6(ATP6AP1):c.972-14G>A	not provided [RCV002127657]	likely benign	X	154435260	154435260	Human		name
152088831	CV1638976	single nucleotide variant	NM_001183.6(ATP6AP1):c.684+13C>G	not provided [RCV002150320]	likely benign	X	154433733	154433733	Human		name
152065693	CV1641292	single nucleotide variant	NM_001183.6(ATP6AP1):c.289-19T>C	not provided [RCV002209304]	likely benign	X	154431811	154431811	Human		name
156399040	CV1984750	single nucleotide variant	NM_001183.6(ATP6AP1):c.1203+9C>T	not provided [RCV002605424]	likely benign	X	154435514	154435514	Human		name
156302939	CV2013558	single nucleotide variant	NM_001183.6(ATP6AP1):c.924-17T>C	not provided [RCV002716143]	benign	X	154435122	154435122	Human		name
156181024	CV2020483	single nucleotide variant	NM_001183.6(ATP6AP1):c.364-19G>C	not provided [RCV002710783]	likely benign	X	154432247	154432247	Human		name
156231333	CV2024349	single nucleotide variant	NM_001183.6(ATP6AP1):c.161+12G>A	not provided [RCV002745316]	likely benign	X	154428865	154428865	Human		name
156264697	CV2059551	single nucleotide variant	NM_001183.6(ATP6AP1):c.161+11C>T	not provided [RCV002806447]	likely benign	X	154428864	154428864	Human		name
156008446	CV2075331	single nucleotide variant	NM_001183.6(ATP6AP1):c.971+10G>A	Immunodeficiency 47 [RCV003225772]\|not provided [RCV002843740]	likely benign\|uncertain significance	X	154435196	154435196	Human	1	name
155938531	CV2119633	single nucleotide variant	NM_001183.6(ATP6AP1):c.557+10G>A	not provided [RCV002971119]	likely benign	X	154432469	154432469	Human		name
156151650	CV2131794	single nucleotide variant	NM_001183.6(ATP6AP1):c.289-16C>A	not provided [RCV002982675]	likely benign	X	154431814	154431814	Human		name
156201103	CV2182841	single nucleotide variant	NM_001183.6(ATP6AP1):c.363+14C>T	not provided [RCV003024454]	likely benign	X	154431918	154431918	Human		name
405190178	CV2874958	single nucleotide variant	NM_001183.6(ATP6AP1):c.971+13G>A	not provided [RCV003550254]	likely benign	X	154435199	154435199	Human		name
405188981	CV2964187	single nucleotide variant	NM_001183.6(ATP6AP1):c.161+13G>A	not provided [RCV003676876]	uncertain significance	X	154428866	154428866	Human		name
405141146	CV3045942	single nucleotide variant	NM_001183.6(ATP6AP1):c.363+10C>T	not provided [RCV003725597]	benign	X	154431914	154431914	Human		name
405030933	CV3130012	single nucleotide variant	NM_001183.6(ATP6AP1):c.923+15C>G	not provided [RCV003830611]	uncertain significance	X	154434461	154434461	Human		name
597830824	CV3739482	single nucleotide variant	NM_001183.6(ATP6AP1):c.558-20G>A	not provided [RCV005062372]	benign	X	154432911	154432911	Human		name
597859444	CV3832868	single nucleotide variant	NM_001183.6(ATP6AP1):c.161+14G>A	not provided [RCV005174781]	likely benign	X	154428867	154428867	Human		name
597893396	CV3857077	single nucleotide variant	NM_001183.6(ATP6AP1):c.685-19T>A	not provided [RCV005200940]	likely benign	X	154434189	154434189	Human		name
597921357	CV3861749	single nucleotide variant	NM_001183.6(ATP6AP1):c.162-19C>A	not provided [RCV005205125]	likely benign	X	154429029	154429029	Human		name
127240838	CV1086476	single nucleotide variant	NM_001183.6(ATP6AP1):c.1204-19G>A	not provided [RCV001397843]	likely benign	X	154435663	154435663	Human		name
127331407	CV1150605	single nucleotide variant	NM_001183.6(ATP6AP1):c.1204-15C>T	not provided [RCV001488766]	likely benign	X	154435667	154435667	Human		name
150496058	CV1225230	single nucleotide variant	NM_001183.6(ATP6AP1):c.923+332T>C	not provided [RCV001619708]	benign	X	154434778	154434778	Human		name
150467823	CV1240942	single nucleotide variant	NM_001183.6(ATP6AP1):c.924-113G>A	not provided [RCV001650400]	benign	X	154435026	154435026	Human		name
150511926	CV1242836	single nucleotide variant	NM_001183.6(ATP6AP1):c.288+240A>G	not provided [RCV001661189]	benign	X	154429414	154429414	Human		name
150459326	CV1264002	single nucleotide variant	NM_001183.6(ATP6AP1):c.289-106T>C	not provided [RCV001681917]	benign	X	154431724	154431724	Human		name
150447450	CV1270313	single nucleotide variant	NM_001183.6(ATP6AP1):c.289-282G>A	not provided [RCV001691449]	benign	X	154431548	154431548	Human		name
152110537	CV1650945	single nucleotide variant	NM_001183.6(ATP6AP1):c.1203+14G>A	not provided [RCV002134424]	likely benign	X	154435519	154435519	Human		name
156174627	CV1956494	single nucleotide variant	NM_001183.6(ATP6AP1):c.1204-20C>T	not provided [RCV002573918]	benign	X	154435662	154435662	Human		name
156287459	CV2012897	duplication	NM_001183.6(ATP6AP1):c.1204-14dup	not provided [RCV002715519]	likely benign	X	154435667	154435668	Human		name
401964635	CV2848816	single nucleotide variant	NM_001183.6(ATP6AP1):c.289-233C>T	Immunodeficiency 47 [RCV003485018]	likely pathogenic	X	154431597	154431597	Human	1	name
401964636	CV2848817	single nucleotide variant	NM_001183.6(ATP6AP1):c.289-289G>A	Immunodeficiency 47 [RCV003485019]	pathogenic	X	154431541	154431541	Human	1	name
402470518	CV2907994	single nucleotide variant	NM_001183.6(ATP6AP1):c.1204-12T>C	not provided [RCV003570376]	likely benign	X	154435670	154435670	Human		name
127298731	CV1159494	variation	NM_001183.6(ATP6AP1):c.45= (p.Arg15=)	not provided [RCV001513393]	benign	X	154428737	154428737	Human		name
156109003	CV1963578	single nucleotide variant	NM_001183.6(ATP6AP1):c.9G>C (p.Ala3=)	not provided [RCV002571128]	likely benign	X	154428701	154428701	Human		name
597900381	CV3741070	single nucleotide variant	NM_001183.6(ATP6AP1):c.9G>T (p.Ala3=)	not provided [RCV005072233]	likely benign	X	154428701	154428701	Human		name
152033097	CV1657759	single nucleotide variant	NM_001183.6(ATP6AP1):c.18G>T (p.Ala6=)	not provided [RCV002187023]	likely benign	X	154428710	154428710	Human		name
155962233	CV2080522	deletion	NM_001183.6(ATP6AP1):c.557+8_557+29del	not provided [RCV002862913]	likely benign	X	154432466	154432487	Human		name
405132411	CV3163803	deletion	NM_001183.6(ATP6AP1):c.364-10_364-9del	not provided [RCV003854791]	likely benign	X	154432256	154432257	Human		name
152143130	CV1538355	single nucleotide variant	NM_001183.6(ATP6AP1):c.84G>A (p.Val28=)	not provided [RCV002219643]	likely benign	X	154428776	154428776	Human		name
405226596	CV3169380	single nucleotide variant	NM_001183.6(ATP6AP1):c.72G>A (p.Pro24=)	not provided [RCV003864404]	likely benign	X	154428764	154428764	Human		name
596922347	CV3537048	single nucleotide variant	NM_001183.6(ATP6AP1):c.1A>C (p.Met1Leu)	not provided [RCV004786043]	uncertain significance	X	154428693	154428693	Human		name
15172481	CV706164	single nucleotide variant	NM_001183.6(ATP6AP1):c.45G>A (p.Arg15=)	not provided [RCV000950036]	benign	X	154428737	154428737	Human		name
150549190	CV1295008	single nucleotide variant	NM_001183.6(ATP6AP1):c.25C>T (p.Arg9Ter)	not provided [RCV001764969]	uncertain significance	X	154428717	154428717	Human		name
152147586	CV1653725	single nucleotide variant	NM_001183.6(ATP6AP1):c.198C>G (p.Gly66=)	not provided [RCV002139033]	likely benign	X	154429084	154429084	Human		name
156093457	CV1895742	single nucleotide variant	NM_001183.6(ATP6AP1):c.201C>T (p.His67=)	not provided [RCV003080313]	likely benign	X	154429087	154429087	Human		name
156417357	CV1970350	single nucleotide variant	NM_001183.6(ATP6AP1):c.216G>A (p.Leu72=)	Immunodeficiency 47 [RCV003146587]\|not provided [RCV002590148]	likely benign\|uncertain significance	X	154429102	154429102	Human	1	name
156336191	CV1997178	single nucleotide variant	NM_001183.6(ATP6AP1):c.13A>G (p.Met5Val)	not provided [RCV002650083]	uncertain significance	X	154428705	154428705	Human		name
156395479	CV2012205	single nucleotide variant	NM_001183.6(ATP6AP1):c.114G>A (p.Ala38=)	not provided [RCV002725505]	likely benign	X	154428806	154428806	Human		name
405248949	CV2987281	single nucleotide variant	NM_001183.6(ATP6AP1):c.11C>A (p.Ala4Asp)	not provided [RCV003686081]	uncertain significance	X	154428703	154428703	Human		name
405036602	CV3072414	single nucleotide variant	NM_001183.6(ATP6AP1):c.207C>T (p.Thr69=)	not provided [RCV003739394]	likely benign	X	154429093	154429093	Human		name
405190260	CV3117998	single nucleotide variant	NM_001183.6(ATP6AP1):c.102G>T (p.Ala34=)	not provided [RCV003820908]	likely benign	X	154428794	154428794	Human		name
405162439	CV3153129	single nucleotide variant	NM_001183.6(ATP6AP1):c.192T>C (p.His64=)	not provided [RCV003840864]	likely benign	X	154429078	154429078	Human		name
405203060	CV3165155	single nucleotide variant	NM_001183.6(ATP6AP1):c.273G>C (p.Leu91=)	not provided [RCV003861016]	likely benign	X	154429159	154429159	Human		name
597648908	CV3551717	duplication	NM_001183.6(ATP6AP1):c.68dup (p.Met23fs)	not provided [RCV004820430]	uncertain significance	X	154428759	154428760	Human		name
597901914	CV3741433	single nucleotide variant	NM_001183.6(ATP6AP1):c.222C>G (p.Leu74=)	not provided [RCV005072404]	likely benign	X	154429108	154429108	Human		name
597908086	CV3829866	single nucleotide variant	NM_001183.6(ATP6AP1):c.17C>G (p.Ala6Gly)	not provided [RCV005182435]	uncertain significance	X	154428709	154428709	Human		name
127303483	CV1159497	single nucleotide variant	NM_001183.6(ATP6AP1):c.345C>T (p.Ser115=)	not provided [RCV001515495]	benign	X	154431886	154431886	Human		name
151749683	CV1430368	deletion	NM_001183.6(ATP6AP1):c.-2_3del (p.Met1fs)	not provided [RCV002006735]	uncertain significance	X	154428690	154428694	Human		name
151774070	CV1505027	single nucleotide variant	NM_001183.6(ATP6AP1):c.71C>G (p.Pro24Arg)	not provided [RCV001988519]	uncertain significance	X	154428763	154428763	Human		name
152086237	CV1531693	single nucleotide variant	NM_001183.6(ATP6AP1):c.417T>C (p.Tyr139=)	not provided [RCV002077020]	likely benign	X	154432319	154432319	Human		name
152162263	CV1584768	single nucleotide variant	NM_001183.6(ATP6AP1):c.642T>C (p.Asp214=)	not provided [RCV002123416]	likely benign	X	154433678	154433678	Human		name
152146525	CV1600017	single nucleotide variant	NM_001183.6(ATP6AP1):c.456C>T (p.Leu152=)	not provided [RCV002138879]	likely benign	X	154432358	154432358	Human		name
152092335	CV1603011	single nucleotide variant	NM_001183.6(ATP6AP1):c.541C>T (p.Leu181=)	not provided [RCV002194460]	likely benign	X	154432443	154432443	Human		name
152109180	CV1604194	single nucleotide variant	NM_001183.6(ATP6AP1):c.493C>A (p.Arg165=)	not provided [RCV002080012]	likely benign	X	154432395	154432395	Human		name
152074906	CV1611172	single nucleotide variant	NM_001183.6(ATP6AP1):c.549C>T (p.Tyr183=)	not provided [RCV002130084]	likely benign	X	154432451	154432451	Human		name
152104188	CV1614459	single nucleotide variant	NM_001183.6(ATP6AP1):c.441C>T (p.Tyr147=)	not provided [RCV002079371]	likely benign	X	154432343	154432343	Human		name
155929513	CV1908794	single nucleotide variant	NM_001183.6(ATP6AP1):c.834C>T (p.Tyr278=)	not provided [RCV002614924]	likely benign	X	154434357	154434357	Human		name
156261625	CV1913549	single nucleotide variant	NM_001183.6(ATP6AP1):c.492G>A (p.Leu164=)	not provided [RCV002627784]	likely benign	X	154432394	154432394	Human		name
156223504	CV1981447	single nucleotide variant	NM_001183.6(ATP6AP1):c.609C>T (p.Ile203=)	not provided [RCV002626532]	likely benign	X	154433645	154433645	Human		name
156385596	CV1998034	single nucleotide variant	NM_001183.6(ATP6AP1):c.672C>A (p.Val224=)	not provided [RCV002653968]	benign	X	154433708	154433708	Human		name
156111166	CV1998484	single nucleotide variant	NM_001183.6(ATP6AP1):c.552A>G (p.Thr184=)	not provided [RCV002639945]	benign	X	154432454	154432454	Human		name
156278137	CV2005059	single nucleotide variant	NM_001183.6(ATP6AP1):c.759G>A (p.Val253=)	not provided [RCV002646751]	likely benign	X	154434282	154434282	Human		name
156099433	CV2007672	single nucleotide variant	NM_001183.6(ATP6AP1):c.498G>A (p.Glu166=)	not provided [RCV002695248]	likely benign	X	154432400	154432400	Human		name
156197747	CV2014570	single nucleotide variant	NM_001183.6(ATP6AP1):c.459G>A (p.Gly153=)	not provided [RCV002700170]	likely benign	X	154432361	154432361	Human		name
156009793	CV2020226	single nucleotide variant	NM_001183.6(ATP6AP1):c.37G>C (p.Gly13Arg)	Inborn genetic diseases [RCV004966054]\|not provided [RCV002734838]	likely benign\|uncertain significance	X	154428729	154428729	Human	1	name
156240648	CV2053080	single nucleotide variant	NM_001183.6(ATP6AP1):c.489C>A (p.Thr163=)	not provided [RCV002791340]	likely benign	X	154432391	154432391	Human		name
155961122	CV2089025	single nucleotide variant	NM_001183.6(ATP6AP1):c.627A>C (p.Thr209=)	not provided [RCV002881021]	likely benign	X	154433663	154433663	Human		name
156136011	CV2097358	single nucleotide variant	NM_001183.6(ATP6AP1):c.957C>T (p.Thr319=)	not provided [RCV002890126]	likely benign	X	154435172	154435172	Human		name
156357170	CV2126151	single nucleotide variant	NM_001183.6(ATP6AP1):c.65G>T (p.Arg22Leu)	not provided [RCV002966743]	uncertain significance	X	154428757	154428757	Human		name
155902486	CV2127038	single nucleotide variant	NM_001183.6(ATP6AP1):c.615G>A (p.Gln205=)	not provided [RCV002967508]	likely benign	X	154433651	154433651	Human		name
401929928	CV2821705	single nucleotide variant	NM_001183.6(ATP6AP1):c.669G>A (p.Ala223=)	Inborn genetic diseases [RCV005288968]\|not provided [RCV003440056]	benign\|likely benign	X	154433705	154433705	Human	1	name
405071600	CV2876586	single nucleotide variant	NM_001183.6(ATP6AP1):c.801C>T (p.Ile267=)	not provided [RCV003548565]	benign	X	154434324	154434324	Human		name
402473598	CV2919406	single nucleotide variant	NM_001183.6(ATP6AP1):c.774G>A (p.Val258=)	not provided [RCV003571035]	uncertain significance	X	154434297	154434297	Human		name
402483348	CV2937586	single nucleotide variant	NM_001183.6(ATP6AP1):c.699A>G (p.Val233=)	not provided [RCV003659847]	likely benign	X	154434222	154434222	Human		name
405101624	CV2948017	single nucleotide variant	NM_001183.6(ATP6AP1):c.783T>C (p.Asn261=)	not provided [RCV003666047]	likely benign	X	154434306	154434306	Human		name
405127393	CV2957121	single nucleotide variant	NM_001183.6(ATP6AP1):c.98C>T (p.Ala33Val)	not provided [RCV003672089]	benign	X	154428790	154428790	Human		name
405133619	CV2957812	single nucleotide variant	NM_001183.6(ATP6AP1):c.540C>A (p.Arg180=)	not provided [RCV003672624]	likely benign	X	154432442	154432442	Human		name
405206038	CV3041918	single nucleotide variant	NM_001183.6(ATP6AP1):c.390A>G (p.Ser130=)	not provided [RCV003708017]	likely benign	X	154432292	154432292	Human		name
405218905	CV3139543	single nucleotide variant	NM_001183.6(ATP6AP1):c.744G>A (p.Gln248=)	not provided [RCV003824234]	likely benign	X	154434267	154434267	Human		name
404990427	CV3176218	single nucleotide variant	NM_001183.6(ATP6AP1):c.29T>A (p.Val10Glu)	ATP6AP1-related disorder [RCV004736426]\|not provided [RCV003881543]	uncertain significance	X	154428721	154428721	Human	1	name , trait , alternate_id
407425100	CV3411106	single nucleotide variant	NM_001183.6(ATP6AP1):c.35T>G (p.Met12Arg)	not provided [RCV004588796]	uncertain significance	X	154428727	154428727	Human		name
597836849	CV3739905	single nucleotide variant	NM_001183.6(ATP6AP1):c.861C>T (p.Pro287=)	not provided [RCV005064125]	likely benign	X	154434384	154434384	Human		name
597872741	CV3747212	single nucleotide variant	NM_001183.6(ATP6AP1):c.82G>A (p.Val28Met)	not provided [RCV005068896]	uncertain significance	X	154428774	154428774	Human		name
597876834	CV3747908	single nucleotide variant	NM_001183.6(ATP6AP1):c.318C>T (p.Gly106=)	not provided [RCV005069400]	likely benign	X	154431859	154431859	Human		name
597859986	CV3748623	single nucleotide variant	NM_001183.6(ATP6AP1):c.648A>G (p.Pro216=)	not provided [RCV005067255]	likely benign	X	154433684	154433684	Human		name
597837955	CV3758123	single nucleotide variant	NM_001183.6(ATP6AP1):c.930A>G (p.Ser310=)	not provided [RCV005085957]	likely benign	X	154435145	154435145	Human		name
597883152	CV3784212	single nucleotide variant	NM_001183.6(ATP6AP1):c.471G>A (p.Leu157=)	not provided [RCV005124501]	likely benign	X	154432373	154432373	Human		name
597968138	CV3790655	single nucleotide variant	NM_001183.6(ATP6AP1):c.507C>T (p.Leu169=)	not provided [RCV005140886]	likely benign	X	154432409	154432409	Human		name
12833017	CV379998	single nucleotide variant	NM_001183.6(ATP6AP1):c.831G>T (p.Ala277=)	not specified [RCV000417694]	likely benign	X	154434354	154434354	Human		name
597895151	CV3806295	single nucleotide variant	NM_001183.6(ATP6AP1):c.480C>T (p.Asp160=)	not provided [RCV005151878]	likely benign	X	154432382	154432382	Human		name
597925011	CV3808721	single nucleotide variant	NM_001183.6(ATP6AP1):c.945A>G (p.Arg315=)	not provided [RCV005156235]	likely benign	X	154435160	154435160	Human		name
597963282	CV3819577	single nucleotide variant	NM_001183.6(ATP6AP1):c.837G>A (p.Lys279=)	not provided [RCV005164293]	likely benign	X	154434360	154434360	Human		name
597969673	CV3831986	single nucleotide variant	NM_001183.6(ATP6AP1):c.369C>T (p.Ala123=)	not provided [RCV005166242]	likely benign	X	154432271	154432271	Human		name
597869243	CV3858410	single nucleotide variant	NM_001183.6(ATP6AP1):c.822C>T (p.Phe274=)	not provided [RCV005197153]	likely benign	X	154434345	154434345	Human		name
13835015	CV586267	single nucleotide variant	NM_001183.6(ATP6AP1):c.43C>T (p.Arg15Trp)	ALG2-congenital disorder of glycosylation [RCV005357969]\|ATP6AP1-related disorder [RCV004535837]\|not provided [RCV000730697]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154428735	154428735	Human	3	name , trait , alternate_id
15104741	CV706165	single nucleotide variant	NM_001183.6(ATP6AP1):c.499C>T (p.Leu167=)	not provided [RCV000959745]	likely benign	X	154432401	154432401	Human		name
15103986	CV758390	single nucleotide variant	NM_001183.6(ATP6AP1):c.405C>T (p.Ala135=)	not provided [RCV000915268]	likely benign	X	154432307	154432307	Human		name
15104132	CV758391	single nucleotide variant	NM_001183.6(ATP6AP1):c.927C>T (p.Leu309=)	not provided [RCV000915293]	benign	X	154435142	154435142	Human		name
126908397	CV1052358	single nucleotide variant	NM_001183.6(ATP6AP1):c.294C>A (p.Ser98Arg)	Immunodeficiency 47 [RCV004728679]\|not provided [RCV001367814]	likely benign\|uncertain significance	X	154431835	154431835	Human	1	name
127298742	CV1159496	single nucleotide variant	NM_001183.6(ATP6AP1):c.226A>G (p.Thr76Ala)	not provided [RCV001513395]	benign	X	154429112	154429112	Human		name
151763930	CV1407599	single nucleotide variant	NM_001183.6(ATP6AP1):c.1134C>T (p.Ser378=)	not provided [RCV002044586]	likely benign\|uncertain significance	X	154435436	154435436	Human		name
151729881	CV1420336	single nucleotide variant	NM_001183.6(ATP6AP1):c.131A>G (p.Gln44Arg)	not provided [RCV002041083]	uncertain significance	X	154428823	154428823	Human		name
151776448	CV1449928	single nucleotide variant	NM_001183.6(ATP6AP1):c.124G>A (p.Glu42Lys)	not provided [RCV001864561]	uncertain significance	X	154428816	154428816	Human		name
151784491	CV1508593	single nucleotide variant	NM_001183.6(ATP6AP1):c.247G>A (p.Glu83Lys)	not provided [RCV002010045]	uncertain significance	X	154429133	154429133	Human		name
152155056	CV1520166	single nucleotide variant	NM_001183.6(ATP6AP1):c.1242C>T (p.Tyr414=)	not provided [RCV002140068]	likely benign	X	154435720	154435720	Human		name
152174806	CV1536026	single nucleotide variant	NM_001183.6(ATP6AP1):c.1311C>G (p.Leu437=)	not provided [RCV002163279]	likely benign	X	154435789	154435789	Human		name
152069987	CV1660806	single nucleotide variant	NM_001183.6(ATP6AP1):c.165C>G (p.Asp55Glu)	ATP6AP1-related disorder [RCV004543812]\|not provided [RCV002129486]	benign\|likely benign	X	154429051	154429051	Human	1	name , trait , alternate_id
152078714	CV1666639	single nucleotide variant	NM_001183.6(ATP6AP1):c.245T>C (p.Leu82Pro)	not provided [RCV002210984]	uncertain significance	X	154429131	154429131	Human		name
156438430	CV1947034	single nucleotide variant	NM_001183.6(ATP6AP1):c.1161C>T (p.Arg387=)	not provided [RCV003108373]	benign	X	154435463	154435463	Human		name
156411523	CV1976355	single nucleotide variant	NM_001183.6(ATP6AP1):c.179C>G (p.Ala60Gly)	not provided [RCV002587519]	uncertain significance	X	154429065	154429065	Human		name
156228467	CV2002281	single nucleotide variant	NM_001183.6(ATP6AP1):c.1326T>C (p.Tyr442=)	not provided [RCV002667487]	likely benign	X	154435804	154435804	Human		name
156202343	CV2021282	single nucleotide variant	NM_001183.6(ATP6AP1):c.1164G>A (p.Thr388=)	not provided [RCV002711445]	likely benign	X	154435466	154435466	Human		name
156265438	CV2059583	single nucleotide variant	NM_001183.6(ATP6AP1):c.249G>C (p.Glu83Asp)	not provided [RCV002806475]	uncertain significance	X	154429135	154429135	Human		name
156206686	CV2131305	single nucleotide variant	NM_001183.6(ATP6AP1):c.1059C>T (p.Val353=)	not provided [RCV002985427]	benign	X	154435361	154435361	Human		name
156262278	CV2319775	single nucleotide variant	NM_001183.6(ATP6AP1):c.133G>T (p.Val45Phe)	Inborn genetic diseases [RCV002959823]\|not specified [RCV004587455]	uncertain significance	X	154428825	154428825	Human	1	name
401727499	CV2736338	single nucleotide variant	NM_001183.6(ATP6AP1):c.220C>G (p.Leu74Val)	Immunodeficiency 47 [RCV003330115]\|not provided [RCV003312786]	likely pathogenic\|uncertain significance	X	154429106	154429106	Human	1	name
401929930	CV2821706	single nucleotide variant	NM_001183.6(ATP6AP1):c.1272C>T (p.Pro424=)	not provided [RCV003440057]	likely benign	X	154435750	154435750	Human		name
402504022	CV2933484	single nucleotide variant	NM_001183.6(ATP6AP1):c.202A>G (p.Ile68Val)	not provided [RCV003574286]	benign\|uncertain significance	X	154429088	154429088	Human		name
405075794	CV3145546	single nucleotide variant	NM_001183.6(ATP6AP1):c.1044C>T (p.His348=)	not provided [RCV003851131]	likely benign	X	154435346	154435346	Human		name
405167865	CV3153727	single nucleotide variant	NM_001183.6(ATP6AP1):c.1035C>T (p.Leu345=)	not provided [RCV003841272]	benign	X	154435337	154435337	Human		name
404993020	CV3176355	single nucleotide variant	NM_001183.6(ATP6AP1):c.1155G>T (p.Val385=)	not provided [RCV003881787]	likely benign	X	154435457	154435457	Human		name
402502163	CV3180995	single nucleotide variant	NM_001183.6(ATP6AP1):c.119C>T (p.Ala40Val)	not provided [RCV003878012]	uncertain significance	X	154428811	154428811	Human		name
408369149	CV3508657	single nucleotide variant	NM_001183.6(ATP6AP1):c.266T>C (p.Val89Ala)	ATP6AP1-related disorder [RCV004736592]	uncertain significance	X	154429152	154429152	Human		name , trait , alternate_id
597865103	CV3742278	single nucleotide variant	NM_001183.6(ATP6AP1):c.1218C>T (p.Asn406=)	not provided [RCV005067894]	likely benign	X	154435696	154435696	Human		name
597932694	CV3742668	single nucleotide variant	NM_001183.6(ATP6AP1):c.1272C>G (p.Pro424=)	not provided [RCV005076107]	likely benign	X	154435750	154435750	Human		name
597950675	CV3798163	single nucleotide variant	NM_001183.6(ATP6AP1):c.241G>T (p.Ala81Ser)	not provided [RCV005135943]	uncertain significance	X	154429127	154429127	Human		name
597938092	CV3808172	single nucleotide variant	NM_001183.6(ATP6AP1):c.1077C>T (p.Ser359=)	not provided [RCV005158360]	likely benign	X	154435379	154435379	Human		name
597950835	CV3815229	single nucleotide variant	NM_001183.6(ATP6AP1):c.1293C>T (p.Leu431=)	not provided [RCV005161179]	likely benign	X	154435771	154435771	Human		name
597964820	CV3830585	single nucleotide variant	NM_001183.6(ATP6AP1):c.184G>A (p.Asp62Asn)	not provided [RCV005164725]	uncertain significance	X	154429070	154429070	Human		name
598185477	CV3913661	single nucleotide variant	NM_001183.6(ATP6AP1):c.293G>A (p.Ser98Asn)	Inborn genetic diseases [RCV005287440]	uncertain significance	X	154431834	154431834	Human	1	name
13520569	CV495893	single nucleotide variant	NM_001183.6(ATP6AP1):c.1113C>T (p.Cys371=)	not provided [RCV000598739]	uncertain significance	X	154435415	154435415	Human		name
15149116	CV758392	single nucleotide variant	NM_001183.6(ATP6AP1):c.1011G>A (p.Arg337=)	not provided [RCV000923224]	likely benign	X	154435313	154435313	Human		name
15193773	CV773915	single nucleotide variant	NM_001183.6(ATP6AP1):c.1140G>A (p.Lys380=)	not provided [RCV000933454]	likely benign	X	154435442	154435442	Human		name
28899344	CV904108	single nucleotide variant	NM_001183.6(ATP6AP1):c.221T>C (p.Leu74Pro)	Immunodeficiency 47 [RCV001171364]	pathogenic	X	154429107	154429107	Human	1	name
150476766	CV1203090	single nucleotide variant	NM_001183.6(ATP6AP1):c.328G>A (p.Gly110Arg)	not provided [RCV001589684]	uncertain significance	X	154431869	154431869	Human		name
150546969	CV1291784	single nucleotide variant	NM_001183.6(ATP6AP1):c.509A>T (p.Asn170Ile)	not provided [RCV001733492]	uncertain significance	X	154432411	154432411	Human		name
150545954	CV1297067	single nucleotide variant	NM_001183.6(ATP6AP1):c.473A>G (p.His158Arg)	Inborn genetic diseases [RCV004968257]\|not provided [RCV001763358]	uncertain significance	X	154432375	154432375	Human	1	name
150542171	CV1302516	single nucleotide variant	NM_001183.6(ATP6AP1):c.379G>C (p.Ala127Pro)	not provided [RCV001761206]	uncertain significance	X	154432281	154432281	Human		name
151725507	CV1356637	single nucleotide variant	NM_001183.6(ATP6AP1):c.344G>A (p.Ser115Asn)	Inborn genetic diseases [RCV004681316]\|not provided [RCV001910284]	benign\|likely benign\|uncertain significance	X	154431885	154431885	Human	1	name
151877448	CV1361426	single nucleotide variant	NM_001183.6(ATP6AP1):c.443T>C (p.Leu148Pro)	not provided [RCV001926001]	uncertain significance	X	154432345	154432345	Human		name
151846717	CV1368574	single nucleotide variant	NM_001183.6(ATP6AP1):c.421G>C (p.Val141Leu)	Inborn genetic diseases [RCV005288644]\|not provided [RCV001936804]	uncertain significance	X	154432323	154432323	Human	1	name
151810888	CV1375163	single nucleotide variant	NM_001183.6(ATP6AP1):c.494G>A (p.Arg165Gln)	not provided [RCV001933189]	uncertain significance	X	154432396	154432396	Human		name
151802454	CV1375308	single nucleotide variant	NM_001183.6(ATP6AP1):c.439T>C (p.Tyr147His)	not provided [RCV001953055]	uncertain significance	X	154432341	154432341	Human		name
151790976	CV1389195	single nucleotide variant	NM_001183.6(ATP6AP1):c.341A>G (p.Asp114Gly)	not provided [RCV002010701]	likely benign\|uncertain significance	X	154431882	154431882	Human		name
151836761	CV1398150	single nucleotide variant	NM_001183.6(ATP6AP1):c.781A>G (p.Asn261Asp)	not provided [RCV001977226]	uncertain significance	X	154434304	154434304	Human		name
151822369	CV1412641	single nucleotide variant	NM_001183.6(ATP6AP1):c.656C>T (p.Ala219Val)	not provided [RCV001919700]	uncertain significance	X	154433692	154433692	Human		name
151804392	CV1432307	single nucleotide variant	NM_001183.6(ATP6AP1):c.716G>A (p.Gly239Glu)	not provided [RCV001991244]	uncertain significance	X	154434239	154434239	Human		name
151735021	CV1490665	single nucleotide variant	NM_001183.6(ATP6AP1):c.460G>A (p.Ala154Thr)	not provided [RCV001967513]	benign\|uncertain significance	X	154432362	154432362	Human		name
151760518	CV1500059	single nucleotide variant	NM_001183.6(ATP6AP1):c.739A>C (p.Lys247Gln)	not provided [RCV001895255]	uncertain significance	X	154434262	154434262	Human		name
151807240	CV1505314	single nucleotide variant	NM_001183.6(ATP6AP1):c.484G>C (p.Ala162Pro)	not provided [RCV002048518]	uncertain significance	X	154432386	154432386	Human		name
152039271	CV1555280	single nucleotide variant	NM_001183.6(ATP6AP1):c.700G>A (p.Ala234Thr)	not provided [RCV002107493]	likely benign	X	154434223	154434223	Human		name
152146317	CV1590443	single nucleotide variant	NM_001183.6(ATP6AP1):c.989G>A (p.Arg330His)	not provided [RCV002220102]	benign	X	154435291	154435291	Human		name
155797539	CV1860391	single nucleotide variant	NM_001183.6(ATP6AP1):c.604G>T (p.Val202Phe)	not provided [RCV002467033]	uncertain significance	X	154433640	154433640	Human		name
156202203	CV1916846	single nucleotide variant	NM_001183.6(ATP6AP1):c.610G>A (p.Gly204Arg)	not provided [RCV002595745]	uncertain significance	X	154433646	154433646	Human		name
156088361	CV1983897	single nucleotide variant	NM_001183.6(ATP6AP1):c.580G>A (p.Glu194Lys)	not provided [RCV002621773]	benign	X	154432953	154432953	Human		name
155954115	CV2014190	single nucleotide variant	NM_001183.6(ATP6AP1):c.703G>A (p.Val235Met)	not provided [RCV002686175]	uncertain significance	X	154434226	154434226	Human		name
155925884	CV2045161	single nucleotide variant	NM_001183.6(ATP6AP1):c.521C>G (p.Pro174Arg)	Inborn genetic diseases [RCV005288810]\|not provided [RCV002750928]	uncertain significance	X	154432423	154432423	Human	1	name
156115473	CV2104607	single nucleotide variant	NM_001183.6(ATP6AP1):c.712G>A (p.Gly238Arg)	not provided [RCV002927606]	uncertain significance	X	154434235	154434235	Human		name
156014133	CV2123105	single nucleotide variant	NM_001183.6(ATP6AP1):c.500T>C (p.Leu167Pro)	not provided [RCV002975807]	likely benign	X	154432402	154432402	Human		name
156203122	CV2150210	single nucleotide variant	NM_001183.6(ATP6AP1):c.880G>A (p.Glu294Lys)	not provided [RCV003006395]	uncertain significance	X	154434403	154434403	Human		name
156330922	CV2171774	single nucleotide variant	NM_001183.6(ATP6AP1):c.352T>C (p.Ser118Pro)	not provided [RCV003029763]	uncertain significance	X	154431893	154431893	Human		name
156235385	CV2173321	single nucleotide variant	NM_001183.6(ATP6AP1):c.539G>C (p.Arg180Pro)	not provided [RCV003059464]	uncertain significance	X	154432441	154432441	Human		name
11351119	CV237803	single nucleotide variant	NM_001183.6(ATP6AP1):c.431T>C (p.Leu144Pro)	Immunodeficiency 47 [RCV000225250]	pathogenic	X	154432333	154432333	Human	1	name
11351116	CV237805	single nucleotide variant	NM_001183.6(ATP6AP1):c.938A>G (p.Tyr313Cys)	Immunodeficiency 47 [RCV000225189]\|not provided [RCV003238745]	pathogenic	X	154435153	154435153	Human	1	name
243064835	CV2411993	single nucleotide variant	NM_001183.6(ATP6AP1):c.301G>A (p.Asp101Asn)	Immunodeficiency 47 [RCV003143651]	uncertain significance	X	154431842	154431842	Human	1	name
243064836	CV2411994	single nucleotide variant	NM_001183.6(ATP6AP1):c.515G>C (p.Ser172Thr)	Immunodeficiency 47 [RCV003143652]\|not provided [RCV005412520]	uncertain significance	X	154432417	154432417	Human	1	name
243052185	CV2416094	single nucleotide variant	NM_001183.6(ATP6AP1):c.530T>C (p.Leu177Pro)	Immunodeficiency 47 [RCV003149154]	likely pathogenic	X	154432432	154432432	Human	1	name
243052541	CV2417846	single nucleotide variant	NM_001183.6(ATP6AP1):c.385T>C (p.Ser129Pro)	Immunodeficiency 47 [RCV003152911]	uncertain significance	X	154432287	154432287	Human	1	name
401829955	CV2747661	single nucleotide variant	NM_001183.6(ATP6AP1):c.560C>T (p.Ser187Phe)	Immunodeficiency 47 [RCV003329096]	uncertain significance	X	154432933	154432933	Human	1	name
401856523	CV2752557	single nucleotide variant	NM_001183.6(ATP6AP1):c.473A>T (p.His158Leu)	Immunodeficiency 47 [RCV003340895]	uncertain significance	X	154432375	154432375	Human	1	name
404984809	CV2849686	single nucleotide variant	NM_001183.6(ATP6AP1):c.319G>A (p.Gly107Ser)	Immunodeficiency 47 [RCV003492928]\|not provided [RCV003720938]	likely benign\|uncertain significance	X	154431860	154431860	Human	1	name
402502061	CV2869260	single nucleotide variant	NM_001183.6(ATP6AP1):c.883C>T (p.Leu295Phe)	not provided [RCV003546011]	uncertain significance	X	154434406	154434406	Human		name
405225899	CV2882202	single nucleotide variant	NM_001183.6(ATP6AP1):c.457G>A (p.Gly153Arg)	not provided [RCV003554627]	benign	X	154432359	154432359	Human		name
405240020	CV2882520	single nucleotide variant	NM_001183.6(ATP6AP1):c.697G>A (p.Val233Ile)	not provided [RCV003557120]	uncertain significance	X	154434220	154434220	Human		name
405130828	CV2895189	single nucleotide variant	NM_001183.6(ATP6AP1):c.319G>T (p.Gly107Cys)	not provided [RCV003559989]	uncertain significance	X	154431860	154431860	Human		name
405117500	CV2949604	single nucleotide variant	NM_001183.6(ATP6AP1):c.826G>T (p.Val276Leu)	not provided [RCV003667079]	uncertain significance	X	154434349	154434349	Human		name
405138096	CV2954518	single nucleotide variant	NM_001183.6(ATP6AP1):c.849G>C (p.Glu283Asp)	not provided [RCV003672989]	benign	X	154434372	154434372	Human		name
405216489	CV2975325	single nucleotide variant	NM_001183.6(ATP6AP1):c.548A>G (p.Tyr183Cys)	not provided [RCV003679988]	uncertain significance	X	154432450	154432450	Human		name
405249381	CV3000697	single nucleotide variant	NM_001183.6(ATP6AP1):c.488C>A (p.Thr163Asn)	not provided [RCV003721332]	uncertain significance	X	154432390	154432390	Human		name
405128576	CV3014068	single nucleotide variant	NM_001183.6(ATP6AP1):c.394G>A (p.Val132Met)	not provided [RCV003701461]	uncertain significance	X	154432296	154432296	Human		name
405157730	CV3037440	single nucleotide variant	NM_001183.6(ATP6AP1):c.538C>T (p.Arg180Cys)	not provided [RCV003703674]	uncertain significance	X	154432440	154432440	Human		name
405189588	CV3069693	single nucleotide variant	NM_001183.6(ATP6AP1):c.790G>A (p.Ala264Thr)	not provided [RCV003729596]	benign	X	154434313	154434313	Human		name
404985746	CV3121795	single nucleotide variant	NM_001183.6(ATP6AP1):c.739A>G (p.Lys247Glu)	Inborn genetic diseases [RCV004366801]\|not provided [RCV003826594]	benign\|uncertain significance	X	154434262	154434262	Human	1	name
405107671	CV3136279	single nucleotide variant	NM_001183.6(ATP6AP1):c.406G>A (p.Val136Ile)	not provided [RCV003835625]	uncertain significance	X	154432308	154432308	Human		name
405248144	CV3159248	single nucleotide variant	NM_001183.6(ATP6AP1):c.403G>T (p.Ala135Ser)	not provided [RCV003869393]	uncertain significance	X	154432305	154432305	Human		name
405700120	CV3227231	single nucleotide variant	NM_001183.6(ATP6AP1):c.725G>A (p.Arg242His)	Immunodeficiency 47 [RCV003993582]\|not provided [RCV005064940]	uncertain significance	X	154434248	154434248	Human	1	name
407495072	CV3496495	single nucleotide variant	NM_001183.6(ATP6AP1):c.661C>T (p.Leu221Phe)	not provided [RCV004696695]	uncertain significance	X	154433697	154433697	Human		name
408392863	CV3519596	single nucleotide variant	NM_001183.6(ATP6AP1):c.691C>T (p.Arg231Cys)	not provided [RCV004763892]	uncertain significance	X	154434214	154434214	Human		name
596921610	CV3535232	single nucleotide variant	NM_001183.6(ATP6AP1):c.575C>A (p.Pro192His)	not provided [RCV004784791]	uncertain significance	X	154432948	154432948	Human		name
597923636	CV3748400	single nucleotide variant	NM_001183.6(ATP6AP1):c.944G>A (p.Arg315Gln)	not provided [RCV005075047]	uncertain significance	X	154435159	154435159	Human		name
597939738	CV3756845	single nucleotide variant	NM_001183.6(ATP6AP1):c.830C>T (p.Ala277Val)	not provided [RCV005077226]	benign	X	154434353	154434353	Human		name
597952984	CV3756959	single nucleotide variant	NM_001183.6(ATP6AP1):c.637G>A (p.Glu213Lys)	not provided [RCV005079820]	uncertain significance	X	154433673	154433673	Human		name
597946271	CV3774836	single nucleotide variant	NM_001183.6(ATP6AP1):c.601G>C (p.Glu201Gln)	not provided [RCV005119933]	uncertain significance	X	154433637	154433637	Human		name
597912002	CV3778340	single nucleotide variant	NM_001183.6(ATP6AP1):c.872G>A (p.Gly291Glu)	not provided [RCV005128879]	uncertain significance	X	154434395	154434395	Human		name
597975431	CV3799134	single nucleotide variant	NM_001183.6(ATP6AP1):c.353C>T (p.Ser118Phe)	not provided [RCV005144530]	uncertain significance	X	154431894	154431894	Human		name
597946181	CV3841594	single nucleotide variant	NM_001183.6(ATP6AP1):c.988C>T (p.Arg330Cys)	not provided [RCV005189027]	uncertain significance	X	154435290	154435290	Human		name
597944510	CV3847898	single nucleotide variant	NM_001183.6(ATP6AP1):c.434C>T (p.Thr145Ile)	not provided [RCV005188627]	uncertain significance	X	154432336	154432336	Human		name
597964940	CV3848184	single nucleotide variant	NM_001183.6(ATP6AP1):c.910G>T (p.Asp304Tyr)	not provided [RCV005194064]	uncertain significance	X	154434433	154434433	Human		name
13517560	CV431541	single nucleotide variant	NM_001183.6(ATP6AP1):c.542T>G (p.Leu181Arg)	Immunodeficiency 47 [RCV000590996]\|not provided [RCV001857199]	pathogenic\|uncertain significance	X	154432444	154432444	Human	1	name
13518890	CV486519	single nucleotide variant	NM_001183.6(ATP6AP1):c.361G>C (p.Glu121Gln)	ATP6AP1-related disorder [RCV004543298]\|not provided [RCV000585197]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	154431902	154431902	Human	1	name , trait , alternate_id
15201885	CV729510	single nucleotide variant	NM_001183.6(ATP6AP1):c.539G>A (p.Arg180His)	Decreased total neutrophil count [RCV002227503]\|Immunodeficiency 47 [RCV005231943]\|not provided [RCV000891321]	benign\|likely benign	X	154432441	154432441	Human	5	name
21069280	CV792590	single nucleotide variant	NM_001183.6(ATP6AP1):c.932T>A (p.Leu311Gln)	ATP6AP1-related disorder [RCV000991196]\|Immunodeficiency 47 [RCV001171365]	pathogenic\|uncertain significance	X	154435147	154435147	Human	1	name , trait , alternate_id
38459354	CV919991	single nucleotide variant	NM_001183.6(ATP6AP1):c.674G>A (p.Arg225His)	Immunodeficiency 47 [RCV001195771]	uncertain significance	X	154433710	154433710	Human	1	name
38466211	CV962144	single nucleotide variant	NM_001183.6(ATP6AP1):c.649T>A (p.Tyr217Asn)	Immunodeficiency 47 [RCV001250487]	pathogenic	X	154433685	154433685	Human	1	name
126769812	CV1014842	single nucleotide variant	NM_001183.6(ATP6AP1):c.1219G>A (p.Val407Ile)	Inborn genetic diseases [RCV002543839]\|not provided [RCV001322194]	likely benign\|uncertain significance	X	154435697	154435697	Human	1	name
151661988	CV1330160	single nucleotide variant	NM_001183.6(ATP6AP1):c.1031G>A (p.Arg344His)	Immunodeficiency 47 [RCV001823571]\|Inborn genetic diseases [RCV002542733]\|not provided [RCV002545194]	uncertain significance	X	154435333	154435333	Human	2	name
151733496	CV1355729	single nucleotide variant	NM_001183.6(ATP6AP1):c.1187T>C (p.Met396Thr)	not provided [RCV001984444]	uncertain significance	X	154435489	154435489	Human		name
151787469	CV1390468	microsatellite	NM_001183.6(ATP6AP1):c.96GGC[6] (p.Ala41del)	ATP6AP1-related disorder [RCV004542177]\|not provided [RCV001931064]	likely benign\|uncertain significance	X	154428788	154428790	Human		name , trait , alternate_id
151848971	CV1439943	single nucleotide variant	NM_001183.6(ATP6AP1):c.1031G>T (p.Arg344Leu)	not provided [RCV002016317]	uncertain significance	X	154435333	154435333	Human		name
155267443	CV1699632	single nucleotide variant	NM_001183.6(ATP6AP1):c.1159C>T (p.Arg387Cys)	not specified [RCV002283426]	uncertain significance	X	154435461	154435461	Human		name
155698182	CV1778733	single nucleotide variant	NM_001183.6(ATP6AP1):c.1026G>A (p.Met342Ile)	not provided [RCV002299771]	uncertain significance	X	154435328	154435328	Human		name
155800641	CV1863763	single nucleotide variant	NM_001183.6(ATP6AP1):c.1249G>A (p.Asp417Asn)	not provided [RCV002474186]	uncertain significance	X	154435727	154435727	Human		name
156129381	CV1921587	single nucleotide variant	NM_001183.6(ATP6AP1):c.1030C>T (p.Arg344Cys)	ATP6AP1-related disorder [RCV004529215]\|not provided [RCV002623252]	benign\|uncertain significance	X	154435332	154435332	Human	1	name , trait , alternate_id
156409048	CV1922164	single nucleotide variant	NM_001183.6(ATP6AP1):c.1061C>T (p.Ala354Val)	not provided [RCV002607440]	uncertain significance	X	154435363	154435363	Human		name
155974600	CV1975048	single nucleotide variant	NM_001183.6(ATP6AP1):c.1025T>C (p.Met342Thr)	not provided [RCV002617334]	benign	X	154435327	154435327	Human		name
156391039	CV1991247	single nucleotide variant	NM_001183.6(ATP6AP1):c.1153G>A (p.Val385Met)	not provided [RCV002634990]	uncertain significance	X	154435455	154435455	Human		name
156087746	CV2007358	single nucleotide variant	NM_001183.6(ATP6AP1):c.1273G>A (p.Gly425Ser)	not provided [RCV002694829]	uncertain significance	X	154435751	154435751	Human		name
156324219	CV2072209	single nucleotide variant	NM_001183.6(ATP6AP1):c.1307T>C (p.Met436Thr)	not provided [RCV002834907]	uncertain significance	X	154435785	154435785	Human		name
11351113	CV237802	single nucleotide variant	NM_001183.6(ATP6AP1):c.1284G>A (p.Met428Ile)	Immunodeficiency 47 [RCV000225137]	pathogenic	X	154435762	154435762	Human	1	name
11351123	CV237804	single nucleotide variant	NM_001183.6(ATP6AP1):c.1036G>A (p.Glu346Lys)	Immunodeficiency 47 [RCV000225332]\|not provided [RCV001560673]	pathogenic\|likely pathogenic	X	154435338	154435338	Human	1	name
401936301	CV2803112	single nucleotide variant	NM_001183.6(ATP6AP1):c.1102T>C (p.Ser368Pro)	ATP6AP1-related disorder [RCV004529786]	uncertain significance	X	154435404	154435404	Human		name , trait , alternate_id
405199910	CV2876856	single nucleotide variant	NM_001183.6(ATP6AP1):c.1118A>G (p.Tyr373Cys)	not provided [RCV003551181]	uncertain significance	X	154435420	154435420	Human		name
405151495	CV2888544	single nucleotide variant	NM_001183.6(ATP6AP1):c.1060G>A (p.Ala354Thr)	not provided [RCV003561764]	uncertain significance	X	154435362	154435362	Human		name
405199944	CV2982558	single nucleotide variant	NM_001183.6(ATP6AP1):c.1009C>T (p.Arg337Trp)	not provided [RCV003678084]	uncertain significance	X	154435311	154435311	Human		name
402488358	CV2995546	single nucleotide variant	NM_001183.6(ATP6AP1):c.1243G>A (p.Ala415Thr)	not provided [RCV003687287]	uncertain significance	X	154435721	154435721	Human		name
405067212	CV3030887	single nucleotide variant	NM_001183.6(ATP6AP1):c.1135A>G (p.Lys379Glu)	not provided [RCV003698102]	uncertain significance	X	154435437	154435437	Human		name
405224849	CV3058120	single nucleotide variant	NM_001183.6(ATP6AP1):c.1057G>A (p.Val353Ile)	not provided [RCV003733803]	uncertain significance	X	154435359	154435359	Human		name
405020318	CV3139135	single nucleotide variant	NM_001183.6(ATP6AP1):c.1397T>C (p.Leu466Ser)	not provided [RCV003829777]	benign	X	154435875	154435875	Human		name
405218122	CV3161256	single nucleotide variant	NM_001183.6(ATP6AP1):c.1070A>G (p.Asn357Ser)	not provided [RCV003863125]	benign	X	154435372	154435372	Human		name
408382146	CV3524069	single nucleotide variant	NM_001183.6(ATP6AP1):c.1049A>G (p.Asn350Ser)	not provided [RCV004766467]	uncertain significance	X	154435351	154435351	Human		name
597916710	CV3737374	single nucleotide variant	NM_001183.6(ATP6AP1):c.1196A>G (p.Asp399Gly)	not provided [RCV005074163]	uncertain significance	X	154435498	154435498	Human		name
597931164	CV3745927	single nucleotide variant	NM_001183.6(ATP6AP1):c.1226G>C (p.Gly409Ala)	not provided [RCV005075913]	uncertain significance	X	154435704	154435704	Human		name
597832470	CV3751279	single nucleotide variant	NM_001183.6(ATP6AP1):c.1160G>A (p.Arg387His)	not provided [RCV005084825]	uncertain significance	X	154435462	154435462	Human		name
597874992	CV3813056	single nucleotide variant	NM_001183.6(ATP6AP1):c.1078C>G (p.Gln360Glu)	not provided [RCV005148992]	uncertain significance	X	154435380	154435380	Human		name
597882759	CV3857625	single nucleotide variant	NM_001183.6(ATP6AP1):c.1217A>T (p.Asn406Ile)	not provided [RCV005199252]	uncertain significance	X	154435695	154435695	Human		name
13519101	CV486520	single nucleotide variant	NM_001183.6(ATP6AP1):c.1213T>C (p.Phe405Leu)	not provided [RCV000585372]	uncertain significance	X	154435691	154435691	Human		name
15115465	CV717722	single nucleotide variant	NM_001183.6(ATP6AP1):c.1162A>C (p.Thr388Pro)	not provided [RCV000961854]	benign	X	154435464	154435464	Human		name
15103709	CV786756	single nucleotide variant	NM_001183.6(ATP6AP1):c.1157C>T (p.Ala386Val)	not provided [RCV000976070]	likely benign	X	154435459	154435459	Human		name
152981979	CV1678916	deletion	NM_001183.6(ATP6AP1):c.230_232del (p.Tyr77del)	Immunodeficiency 47 [RCV002248303]	likely pathogenic	X	154429114	154429116	Human	1	name
156148101	CV1932376	deletion	NM_001183.6(ATP6AP1):c.117_119del (p.Ala41del)	not provided [RCV002623905]	uncertain significance	X	154428807	154428809	Human		name
405159795	CV3021377	microsatellite	NM_001183.6(ATP6AP1):c.528GCT[1] (p.Leu178del)	not provided [RCV003703881]	uncertain significance	X	154432428	154432430	Human		name
127298736	CV1159495	microsatellite	NM_001183.6(ATP6AP1):c.96GGC[9] (p.Ala40_Ala41dup)	Inborn genetic diseases [RCV002568022]\|not provided [RCV001513394]\|not specified [RCV001528712]	benign	X	154428787	154428788	Human		name
405197177	CV3138707	microsatellite	NM_001183.6(ATP6AP1):c.96GGC[4] (p.Ala39_Ala41del)	not provided [RCV003821523]	uncertain significance	X	154428788	154428796	Human		name
405211593	CV3173487	microsatellite	NM_001183.6(ATP6AP1):c.96GGC[5] (p.Ala40_Ala41del)	not provided [RCV003862236]	uncertain significance	X	154428788	154428793	Human		name
152048706	CV1633489	microsatellite	NM_001183.6(ATP6AP1):c.96GGC[10] (p.Ala39_Ala41dup)	not provided [RCV002126961]	likely benign	X	154428787	154428788	Human		name
151765296	CV1447754	duplication	NM_001183.6(ATP6AP1):c.117_122dup (p.Ala40_Ala41dup)	not provided [RCV001895794]	uncertain significance	X	154428803	154428804	Human		name
156347483	CV2051986	deletion	NM_001183.6(ATP6AP1):c.113_124del (p.Ala38_Ala41del)	not provided [RCV002811542]	uncertain significance	X	154428798	154428809	Human		name
156144138	CV2113336	microsatellite	NM_001183.6(ATP6AP1):c.96GGC[8] (p.Ala41_Glu42insAla)	Inborn genetic diseases [RCV002942150]\|not provided [RCV002915016]	benign\|likely benign\|uncertain significance	X	154428787	154428788	Human		name
155946789	CV2062271	duplication	NM_001183.6(ATP6AP1):c.314_316dup (p.Tyr105_Gly106insAsp)	not provided [RCV002816031]	uncertain significance	X	154431854	154431855	Human		name
156356171	CV1962420	insertion	NM_001183.6(ATP6AP1):c.100_101insAGG (p.Ala33_Ala34insGlu)	not provided [RCV002581405]	likely benign	X	154428790	154428791	Human		name
156249701	CV1989045	duplication	NM_001183.6(ATP6AP1):c.116_124dup (p.Ala41_Glu42insAlaAlaAla)	not provided [RCV002627409]	uncertain significance	X	154428800	154428801	Human		name
156128846	CV2158635	microsatellite	NM_001183.6(ATP6AP1):c.96GGC[18] (p.Ala41_Glu42insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	not provided [RCV003022096]	uncertain significance	X	154428787	154428788	Human		name
150434591	CV1243988	indel	NM_001183.6(ATP6AP1):c.953_963delinsACATTCAAGTGACAGGACTC (p.Gly318_Val321delinsAspIleGlnValThrGlyLeu)	not provided [RCV001665195]	likely pathogenic\|uncertain significance	X	154435168	154435178	Human		name
405666901	CV3297623	single nucleotide variant	NR_169870.1(ATP6AP1L):n.1969G>C	not specified [RCV004418701]	uncertain significance	5	82305423	82305423	Human		name
407528028	CV3488984	single nucleotide variant	NR_169868.1(ATP6AP1L):n.1518A>G	not specified [RCV004680238]	uncertain significance	5	82317998	82317998	Human		name
407528035	CV3488987	single nucleotide variant	NR_169870.1(ATP6AP1L):n.2188A>G	not specified [RCV004680240]	uncertain significance	5	82312697	82312697	Human		name
597754263	CV3613768	single nucleotide variant	NR_169870.1(ATP6AP1L):n.1981G>A	not specified [RCV004867563]	likely benign	5	82305435	82305435	Human		name
597795249	CV3613774	single nucleotide variant	NR_169870.1(ATP6AP1L):n.2175A>G	not specified [RCV004878152]	uncertain significance	5	82312684	82312684	Human		name
597754305	CV3613783	single nucleotide variant	NR_169870.1(ATP6AP1L):n.2155G>A	not specified [RCV004867573]	likely benign	5	82312664	82312664	Human		name
597754345	CV3613793	single nucleotide variant	NR_169868.1(ATP6AP1L):n.1534T>C	not specified [RCV004867582]	uncertain significance	5	82318014	82318014	Human		name
597754362	CV3613799	single nucleotide variant	NR_169868.1(ATP6AP1L):n.1749G>C	not specified [RCV004867586]	uncertain significance	5	82318229	82318229	Human		name
597754379	CV3613807	single nucleotide variant	NR_169870.1(ATP6AP1L):n.2144G>C	not specified [RCV004867590]	uncertain significance	5	82312653	82312653	Human		name
598176304	CV3913680	single nucleotide variant	NR_169870.1(ATP6AP1L):n.2116A>G	not specified [RCV005285615]	uncertain significance	5	82312625	82312625	Human		name
598185604	CV3913691	single nucleotide variant	NR_169868.1(ATP6AP1L):n.1603T>C	not specified [RCV005287460]	uncertain significance	5	82318083	82318083	Human		name
598185658	CV3913701	single nucleotide variant	NR_169870.1(ATP6AP1L):n.2141T>G	not specified [RCV005287469]	uncertain significance	5	82312650	82312650	Human		name
401917747	CV2827871	single nucleotide variant	NM_001386093.1(ATP6AP1L):c.462G>A (p.Leu154=)	not provided [RCV003429693]	likely benign	5	82312638	82312638	Human		name
401917749	CV2827873	single nucleotide variant	NM_001386093.1(ATP6AP1L):c.681A>G (p.Gln227=)	not provided [RCV003429695]	likely benign	5	82318003	82318003	Human		name
156328930	CV2213719	single nucleotide variant	NM_001386093.1(ATP6AP1L):c.641C>T (p.Ser214Leu)	not specified [RCV004089792]	uncertain significance	5	82312817	82312817	Human		name
156317635	CV2251072	single nucleotide variant	NM_001386093.1(ATP6AP1L):c.895G>C (p.Ala299Pro)	not specified [RCV004123619]	uncertain significance	5	82318217	82318217	Human		name
156237045	CV2265055	single nucleotide variant	NM_001386093.1(ATP6AP1L):c.728C>A (p.Ala243Asp)	not specified [RCV004126209]	uncertain significance	5	82318050	82318050	Human		name
156345724	CV2291186	single nucleotide variant	NM_001386093.1(ATP6AP1L):c.808A>C (p.Met270Leu)	not specified [RCV004153487]	uncertain significance	5	82318130	82318130	Human		name
156174920	CV2377203	single nucleotide variant	NM_001386093.1(ATP6AP1L):c.727G>A (p.Ala243Thr)	not specified [RCV004231875]	likely benign	5	82318049	82318049	Human		name
329371074	CV2431860	single nucleotide variant	NM_001386093.1(ATP6AP1L):c.538A>C (p.Thr180Pro)	not specified [RCV004255000]	uncertain significance	5	82312714	82312714	Human		name
401731803	CV2690144	single nucleotide variant	NM_001386093.1(ATP6AP1L):c.872C>T (p.Ser291Leu)	not specified [RCV004300374]	uncertain significance	5	82318194	82318194	Human		name
401741704	CV2697609	single nucleotide variant	NM_001386093.1(ATP6AP1L):c.622A>G (p.Ser208Gly)	not specified [RCV004298358]	uncertain significance	5	82312798	82312798	Human		name
401886799	CV2776745	single nucleotide variant	NM_001386093.1(ATP6AP1L):c.647T>C (p.Leu216Pro)	not specified [RCV004357899]	uncertain significance	5	82312823	82312823	Human		name
401854427	CV2777707	single nucleotide variant	NM_001386093.1(ATP6AP1L):c.392T>C (p.Leu131Ser)	not specified [RCV004345544]	uncertain significance	5	82310165	82310165	Human		name
401917748	CV2827872	single nucleotide variant	NM_001386093.1(ATP6AP1L):c.568T>C (p.Tyr190His)	not provided [RCV003429694]	likely benign	5	82312744	82312744	Human		name
405666905	CV3297624	single nucleotide variant	NM_001386093.1(ATP6AP1L):c.763G>A (p.Ala255Thr)	not specified [RCV004418702]	uncertain significance	5	82318085	82318085	Human		name

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