Aaas Variant Search Result - Rat Genome Database

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544 records found for search term Aaas

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8558442	CV20082	single nucleotide variant	AAAS, IVS14DS, G-A, +1	Glucocorticoid deficiency with achalasia [RCV000005346]	pathogenic				Human		name
11615461	CV332094	single nucleotide variant	NM_015665.5(AAAS):c.*32C>T	Glucocorticoid deficiency with achalasia [RCV000285683]	likely benign	12	53307457	53307457	Human	1	name
11659128	CV332102	single nucleotide variant	NM_015665.6(AAAS):c.-84G>A	Glucocorticoid deficiency with achalasia [RCV000354929]	uncertain significance	12	53321549	53321549	Human	1	name
11616778	CV333586	single nucleotide variant	NM_015665.6(AAAS):c.-73G>A	Glucocorticoid deficiency with achalasia [RCV000297986]	uncertain significance	12	53321538	53321538	Human	1	name
28871965	CV870169	single nucleotide variant	NM_015665.6(AAAS):c.-70T>C	Glucocorticoid deficiency with achalasia [RCV001114322]	likely benign	12	53321535	53321535	Human	1	name
11613358	CV333590	single nucleotide variant	NM_015665.6(AAAS):c.-130C>T	Glucocorticoid deficiency with achalasia [RCV000267393]\|not provided [RCV003221907]	benign\|uncertain significance	12	53321595	53321595	Human	1	name
127286212	CV1108768	single nucleotide variant	NM_015665.6(AAAS):c.399+1G>A	Glucocorticoid deficiency with achalasia [RCV001449917]	pathogenic	12	53315334	53315334	Human	1	name
150544230	CV1313211	single nucleotide variant	NM_015665.6(AAAS):c.446+1G>A	Glucocorticoid deficiency with achalasia [RCV004586038]	pathogenic	12	53315093	53315093	Human	1	name
150548060	CV1313267	single nucleotide variant	NM_015665.6(AAAS):c.123+2T>C	Glucocorticoid deficiency with achalasia [RCV001785861]	pathogenic	12	53321341	53321341	Human		name
150546092	CV1313582	single nucleotide variant	NM_015665.6(AAAS):c.546-2A>C	Glucocorticoid deficiency with achalasia [RCV001784679]	pathogenic	12	53314443	53314443	Human		name
150545505	CV1315633	single nucleotide variant	NM_015665.6(AAAS):c.689+1G>A	not provided [RCV003740022]	pathogenic\|likely pathogenic	12	53314297	53314297	Human		name
152091067	CV1595781	single nucleotide variant	NM_015665.6(AAAS):c.546-4C>G	not provided [RCV002077719]	likely benign	12	53314445	53314445	Human		name
156322555	CV1873297	single nucleotide variant	NM_015665.6(AAAS):c.123+7A>T	not provided [RCV003063170]	likely benign	12	53321336	53321336	Human		name
156196554	CV1971132	single nucleotide variant	NM_015665.6(AAAS):c.123+9G>T	not provided [RCV002625586]	likely benign	12	53321334	53321334	Human		name
156350002	CV1985518	single nucleotide variant	NM_015665.6(AAAS):c.810+1G>A	Glucocorticoid deficiency with achalasia [RCV003479438]\|not provided [RCV002631912]	pathogenic\|likely pathogenic	12	53309600	53309600	Human	1	name
8558441	CV20081	single nucleotide variant	NM_015665.6(AAAS):c.400-2A>G	Glucocorticoid deficiency with achalasia [RCV000005345]	pathogenic	12	53315142	53315142	Human	1	name
156127000	CV2100610	single nucleotide variant	NM_015665.6(AAAS):c.690-7C>G	not provided [RCV002889792]	likely benign	12	53309728	53309728	Human		name
11559975	CV260030	single nucleotide variant	NM_015665.6(AAAS):c.936-1G>C	not provided [RCV000255406]	pathogenic\|likely pathogenic	12	53309021	53309021	Human		name
405018187	CV2866002	single nucleotide variant	NM_015665.6(AAAS):c.399+2T>C	not provided [RCV003577354]	likely pathogenic	12	53315333	53315333	Human		name
402495311	CV2875143	single nucleotide variant	NM_015665.6(AAAS):c.252-2A>G	not provided [RCV003545339]	likely pathogenic	12	53315784	53315784	Human		name
405093420	CV2878389	single nucleotide variant	NM_015665.6(AAAS):c.399+7T>C	not provided [RCV003550068]	likely benign	12	53315328	53315328	Human		name
405124997	CV2889481	single nucleotide variant	NM_015665.6(AAAS):c.252-2A>C	not provided [RCV003559395]	likely pathogenic	12	53315784	53315784	Human		name
405155527	CV2890628	deletion	NM_015665.6(AAAS):c.546-4del	not provided [RCV003562019]	likely benign	12	53314445	53314445	Human		name
405135573	CV2906850	single nucleotide variant	NM_015665.6(AAAS):c.400-7C>T	not provided [RCV003560418]	likely benign	12	53315147	53315147	Human		name
402472675	CV2908656	single nucleotide variant	NM_015665.6(AAAS):c.252-1G>T	not provided [RCV003570839]	likely pathogenic	12	53315783	53315783	Human		name
405034988	CV2923434	single nucleotide variant	NM_015665.6(AAAS):c.252-7T>A	not provided [RCV003578627]	likely benign	12	53315789	53315789	Human		name
405123646	CV2942588	single nucleotide variant	NM_015665.6(AAAS):c.546-8C>T	not provided [RCV003671739]	likely benign	12	53314449	53314449	Human		name
405153505	CV2949324	single nucleotide variant	NM_015665.6(AAAS):c.997-1G>T	not provided [RCV003674175]	likely pathogenic	12	53308816	53308816	Human		name
405118813	CV2957431	single nucleotide variant	NM_015665.6(AAAS):c.308-6C>T	not provided [RCV003667217]	likely benign	12	53315432	53315432	Human		name
405141808	CV2958701	deletion	NM_015665.6(AAAS):c.811-6del	not provided [RCV003673293]	likely benign	12	53309287	53309287	Human		name
405118435	CV2997448	single nucleotide variant	NM_015665.6(AAAS):c.123+1G>T	not provided [RCV003723613]	likely pathogenic	12	53321342	53321342	Human		name
402519651	CV3002426	single nucleotide variant	NM_015665.6(AAAS):c.996+1G>T	not provided [RCV003690194]	likely pathogenic	12	53308959	53308959	Human		name
402525414	CV3015234	single nucleotide variant	NM_015665.6(AAAS):c.446+9A>G	not provided [RCV003690603]	likely benign	12	53315085	53315085	Human		name
405126621	CV3017269	single nucleotide variant	NM_015665.6(AAAS):c.251+9T>C	not provided [RCV003701229]	likely benign	12	53320556	53320556	Human		name
405167501	CV3019073	single nucleotide variant	NM_015665.6(AAAS):c.689+1G>T	not provided [RCV003704423]	likely pathogenic	12	53314297	53314297	Human		name
405092893	CV3022554	single nucleotide variant	NM_015665.6(AAAS):c.446+1G>T	Glucocorticoid deficiency with achalasia [RCV005013108]\|not provided [RCV003699859]	pathogenic\|likely pathogenic	12	53315093	53315093	Human	1	name
405236812	CV3038008	single nucleotide variant	NM_015665.6(AAAS):c.690-6C>G	not provided [RCV003712377]	likely benign	12	53309727	53309727	Human		name
405130493	CV3050995	single nucleotide variant	NM_015665.6(AAAS):c.689+4A>G	not provided [RCV003724782]	likely benign	12	53314294	53314294	Human		name
405227321	CV3069575	single nucleotide variant	NM_015665.6(AAAS):c.546-4C>T	not provided [RCV003734276]	likely benign	12	53314445	53314445	Human		name
405207318	CV3120470	single nucleotide variant	NM_015665.6(AAAS):c.690-4C>G	not provided [RCV003822804]	likely benign	12	53309725	53309725	Human		name
404984530	CV3121729	single nucleotide variant	NM_015665.6(AAAS):c.123+7A>G	not provided [RCV003826528]	likely benign	12	53321336	53321336	Human		name
405149660	CV3123266	single nucleotide variant	NM_015665.6(AAAS):c.936-9C>T	not provided [RCV003817499]	likely benign	12	53309029	53309029	Human		name
405028767	CV3129855	single nucleotide variant	NM_015665.6(AAAS):c.996+7G>A	not provided [RCV003830453]	likely benign	12	53308953	53308953	Human		name
405042625	CV3154112	single nucleotide variant	NM_015665.6(AAAS):c.447-9C>G	not provided [RCV003848980]	likely benign	12	53314858	53314858	Human		name
405221587	CV3158146	single nucleotide variant	NM_015665.6(AAAS):c.997-4C>G	not provided [RCV003863641]	likely benign	12	53308819	53308819	Human		name
405160013	CV3159918	single nucleotide variant	NM_015665.6(AAAS):c.252-5A>G	not provided [RCV003856989]	likely benign	12	53315787	53315787	Human		name
405250986	CV3181179	single nucleotide variant	NM_015665.6(AAAS):c.935+9G>A	not provided [RCV003870180]	likely benign	12	53309148	53309148	Human		name
405815684	CV3284272	single nucleotide variant	NM_015665.6(AAAS):c.123+1G>A	Inborn genetic diseases [RCV004410669]	likely pathogenic	12	53321342	53321342	Human	1	name
11663257	CV332101	single nucleotide variant	NM_015665.6(AAAS):c.124-4A>G	Glucocorticoid deficiency with achalasia [RCV000393947]\|not provided [RCV003765812]	likely benign\|uncertain significance	12	53320696	53320696	Human	1	name
597725910	CV3710505	single nucleotide variant	NM_015665.6(AAAS):c.252-1G>A	Glucocorticoid deficiency with achalasia [RCV005011402]	likely pathogenic	12	53315783	53315783	Human	1	name
597725918	CV3710506	single nucleotide variant	NM_015665.6(AAAS):c.124-2A>G	Glucocorticoid deficiency with achalasia [RCV005011403]	likely pathogenic	12	53320694	53320694	Human	1	name
597831462	CV3740020	single nucleotide variant	NM_015665.6(AAAS):c.308-8C>A	not provided [RCV005062718]	likely benign	12	53315434	53315434	Human		name
597859184	CV3769916	single nucleotide variant	NM_015665.6(AAAS):c.308-2A>G	not provided [RCV005105767]	likely pathogenic	12	53315428	53315428	Human		name
14693039	CV620850	single nucleotide variant	NM_015665.6(AAAS):c.936-2A>G	Glucocorticoid deficiency with achalasia [RCV000778370]	uncertain significance	12	53309022	53309022	Human		name
15168401	CV744723	single nucleotide variant	NM_015665.6(AAAS):c.690-4C>T	not provided [RCV000904845]	likely benign	12	53309725	53309725	Human		name
28911235	CV872266	single nucleotide variant	NM_015665.6(AAAS):c.936-5C>T	Glucocorticoid deficiency with achalasia [RCV001110211]	uncertain significance	12	53309025	53309025	Human	1	name
150336251	CV1172446	single nucleotide variant	NM_015665.6(AAAS):c.124-20T>C	Glucocorticoid deficiency with achalasia [RCV001544474]\|not provided [RCV001540909]	benign	12	53320712	53320712	Human	1	name
150410085	CV1175402	single nucleotide variant	NM_015665.6(AAAS):c.689+71C>G	Glucocorticoid deficiency with achalasia [RCV001544471]\|not provided [RCV001694084]	benign	12	53314227	53314227	Human	1	name
150410089	CV1175404	single nucleotide variant	NM_015665.6(AAAS):c.251+59A>C	Glucocorticoid deficiency with achalasia [RCV001544473]\|not provided [RCV001673182]	benign	12	53320506	53320506	Human	1	name
150410091	CV1175405	single nucleotide variant	NM_015665.6(AAAS):c.124-33A>C	Glucocorticoid deficiency with achalasia [RCV001544475]\|not provided [RCV001694085]	benign	12	53320725	53320725	Human	1	name
150415180	CV1177637	microsatellite	NM_015665.6(AAAS):c.*3ATAA[1]	not provided [RCV001548458]	likely benign	12	53307479	53307482	Human		name
150497582	CV1256732	single nucleotide variant	NM_015665.6(AAAS):c.545+98A>G	not provided [RCV001676224]	benign	12	53314653	53314653	Human		name
150454124	CV1260613	single nucleotide variant	NM_015665.6(AAAS):c.546-74C>G	not provided [RCV001681106]	benign	12	53314515	53314515	Human		name
150496921	CV1283451	single nucleotide variant	NM_015665.6(AAAS):c.545+81G>A	not provided [RCV001717766]	benign	12	53314670	53314670	Human		name
150540851	CV1312539	single nucleotide variant	NM_015665.6(AAAS):c.1331+1G>T	Glucocorticoid deficiency with achalasia [RCV001781659]	pathogenic	12	53308051	53308051	Human		name
152098066	CV1578362	single nucleotide variant	NM_015665.6(AAAS):c.996+20C>T	not provided [RCV002151451]	benign	12	53308940	53308940	Human		name
152172951	CV1652811	single nucleotide variant	NM_015665.6(AAAS):c.400-17C>T	not provided [RCV002143948]	benign	12	53315157	53315157	Human		name
8558443	CV20085	single nucleotide variant	NM_015665.6(AAAS):c.1087+1G>A	Glucocorticoid deficiency with achalasia [RCV000005349]\|not provided [RCV003555924]	pathogenic\|likely pathogenic	12	53308724	53308724	Human	1	name
155957942	CV2040258	single nucleotide variant	NM_015665.6(AAAS):c.546-15G>T	not provided [RCV002776116]	benign	12	53314456	53314456	Human		name
156210527	CV2114399	single nucleotide variant	NM_015665.6(AAAS):c.545+15A>T	not provided [RCV002932044]	likely benign	12	53314736	53314736	Human		name
11559750	CV260025	single nucleotide variant	NM_015665.6(AAAS):c.1331+1G>A	Glucocorticoid deficiency with achalasia [RCV000005346]\|not provided [RCV000254890]	pathogenic	12	53308051	53308051	Human	1	name
405207878	CV2870400	single nucleotide variant	NM_015665.6(AAAS):c.1250-7C>T	not provided [RCV003552177]	likely benign	12	53308140	53308140	Human		name
405224847	CV2885538	single nucleotide variant	NM_015665.6(AAAS):c.308-14C>G	not provided [RCV003554432]	likely benign	12	53315440	53315440	Human		name
405048102	CV2886682	single nucleotide variant	NM_015665.6(AAAS):c.252-18A>G	not provided [RCV003579595]	likely benign	12	53315800	53315800	Human		name
402478450	CV2909931	single nucleotide variant	NM_015665.6(AAAS):c.810+17C>T	not provided [RCV003571806]	likely benign	12	53309584	53309584	Human		name
402468286	CV2911535	single nucleotide variant	NM_015665.6(AAAS):c.124-18C>T	not provided [RCV003569869]	likely benign	12	53320710	53320710	Human		name
402466599	CV2914676	single nucleotide variant	NM_015665.6(AAAS):c.810+12C>G	not provided [RCV003569401]	likely benign	12	53309589	53309589	Human		name
402466333	CV2914721	deletion	NM_015665.6(AAAS):c.996+10del	not provided [RCV003569427]	benign	12	53308950	53308950	Human		name
405194055	CV2925655	single nucleotide variant	NM_015665.6(AAAS):c.447-18T>C	not provided [RCV003565181]	likely benign	12	53314867	53314867	Human		name
405029569	CV2926030	single nucleotide variant	NM_015665.6(AAAS):c.1182-5C>T	not provided [RCV003578258]	likely benign	12	53308354	53308354	Human		name
405065949	CV2940040	single nucleotide variant	NM_015665.6(AAAS):c.996+18T>C	not provided [RCV003659097]	likely benign	12	53308942	53308942	Human		name
405081232	CV2941806	single nucleotide variant	NM_015665.6(AAAS):c.935+16A>G	not provided [RCV003664607]	likely benign	12	53309141	53309141	Human		name
402496712	CV2942753	single nucleotide variant	NM_015665.6(AAAS):c.935+11C>T	not provided [RCV003661119]	likely benign	12	53309146	53309146	Human		name
405176824	CV2952009	single nucleotide variant	NM_015665.6(AAAS):c.251+13A>G	not provided [RCV003675903]	likely benign	12	53320552	53320552	Human		name
405116455	CV2953330	single nucleotide variant	NM_015665.6(AAAS):c.1331+7G>A	not provided [RCV003666971]	likely benign	12	53308045	53308045	Human		name
405151246	CV2959808	single nucleotide variant	NM_015665.6(AAAS):c.124-15A>T	not provided [RCV003674028]	likely benign	12	53320707	53320707	Human		name
405147425	CV2962813	single nucleotide variant	NM_015665.6(AAAS):c.251+18G>T	not provided [RCV003673748]	likely benign	12	53320547	53320547	Human		name
405229561	CV2968009	single nucleotide variant	NM_015665.6(AAAS):c.1250-7C>A	not provided [RCV003682025]	likely benign	12	53308140	53308140	Human		name
405237897	CV2969971	single nucleotide variant	NM_015665.6(AAAS):c.689+16C>T	not provided [RCV003683362]	likely benign	12	53314282	53314282	Human		name
405240864	CV2974058	single nucleotide variant	NM_015665.6(AAAS):c.400-11T>C	not provided [RCV003684040]	uncertain significance	12	53315151	53315151	Human		name
402495772	CV2978736	single nucleotide variant	NM_015665.6(AAAS):c.936-17G>A	not provided [RCV003714240]	likely benign	12	53309037	53309037	Human		name
405228205	CV2980667	single nucleotide variant	NM_015665.6(AAAS):c.307+12T>G	not provided [RCV003711069]	likely benign	12	53315715	53315715	Human		name
404984073	CV2986676	single nucleotide variant	NM_015665.6(AAAS):c.447-12C>A	not provided [RCV003691616]	likely benign	12	53314861	53314861	Human		name
405248804	CV2987184	single nucleotide variant	NM_015665.6(AAAS):c.446+20A>C	not provided [RCV003686049]	likely benign	12	53315074	53315074	Human		name
405240224	CV2990080	single nucleotide variant	NM_015665.6(AAAS):c.1181+2T>G	not provided [RCV003683905]	likely pathogenic	12	53308433	53308433	Human		name
405015635	CV2995315	single nucleotide variant	NM_015665.6(AAAS):c.996+13T>C	not provided [RCV003694367]	likely benign	12	53308947	53308947	Human		name
405250278	CV2997130	single nucleotide variant	NM_015665.6(AAAS):c.123+20A>G	not provided [RCV003721476]	likely benign	12	53321323	53321323	Human		name
402518273	CV3003427	single nucleotide variant	NM_015665.6(AAAS):c.936-18T>C	not provided [RCV003716237]	likely benign	12	53309038	53309038	Human		name
405248445	CV3003669	single nucleotide variant	NM_015665.6(AAAS):c.400-10G>C	not provided [RCV003721120]	likely benign	12	53315150	53315150	Human		name
405121981	CV3004198	single nucleotide variant	NM_015665.6(AAAS):c.997-18T>C	not provided [RCV003723987]	likely benign	12	53308833	53308833	Human		name
405000943	CV3005334	single nucleotide variant	NM_015665.6(AAAS):c.690-20T>C	not provided [RCV003693100]	likely benign	12	53309741	53309741	Human		name
402500627	CV3013028	single nucleotide variant	NM_015665.6(AAAS):c.1088-2A>G	not provided [RCV003688391]	likely pathogenic	12	53308530	53308530	Human		name
405242065	CV3014666	single nucleotide variant	NM_015665.6(AAAS):c.124-20T>G	not provided [RCV003719407]	likely benign	12	53320712	53320712	Human		name
405135910	CV3018679	single nucleotide variant	NM_015665.6(AAAS):c.252-20A>C	not provided [RCV003702077]	likely benign	12	53315802	53315802	Human		name
405145200	CV3023143	single nucleotide variant	NM_015665.6(AAAS):c.447-10C>A	not provided [RCV003702704]	likely benign	12	53314859	53314859	Human		name
405121808	CV3024556	single nucleotide variant	NM_015665.6(AAAS):c.810+11C>G	not provided [RCV003700768]	likely benign	12	53309590	53309590	Human		name
405092800	CV3026130	single nucleotide variant	NM_015665.6(AAAS):c.1249+7G>A	not provided [RCV003699851]	likely benign	12	53308275	53308275	Human		name
405118495	CV3030349	single nucleotide variant	NM_015665.6(AAAS):c.400-17C>G	not provided [RCV003700433]	likely benign	12	53315157	53315157	Human		name
405150493	CV3031310	single nucleotide variant	NM_015665.6(AAAS):c.1331+1G>C	not provided [RCV003703259]	pathogenic	12	53308051	53308051	Human		name
405196056	CV3037653	single nucleotide variant	NM_015665.6(AAAS):c.1416+2T>C	not provided [RCV003706924]	pathogenic	12	53307843	53307843	Human		name
405236489	CV3038123	duplication	NM_015665.6(AAAS):c.124-18dup	not provided [RCV003712445]	likely benign	12	53320709	53320710	Human		name
402498509	CV3038239	single nucleotide variant	NM_015665.6(AAAS):c.1417-4G>A	not provided [RCV003714500]	likely benign	12	53307717	53307717	Human		name
405235360	CV3040866	deletion	NM_015665.6(AAAS):c.307+18del	not provided [RCV003712254]	likely benign	12	53315709	53315709	Human		name
405126083	CV3053444	single nucleotide variant	NM_015665.6(AAAS):c.446+10C>T	not provided [RCV003724385]	likely benign	12	53315084	53315084	Human		name
405223794	CV3061457	single nucleotide variant	NM_015665.6(AAAS):c.1417-5T>C	not provided [RCV003733716]	likely benign	12	53307718	53307718	Human		name
405115330	CV3115488	single nucleotide variant	NM_015665.6(AAAS):c.811-16T>C	not provided [RCV003814170]	likely benign	12	53309297	53309297	Human		name
405119477	CV3116159	single nucleotide variant	NM_015665.6(AAAS):c.1416+9G>A	not provided [RCV003814649]	likely benign	12	53307836	53307836	Human		name
405007307	CV3117592	single nucleotide variant	NM_015665.6(AAAS):c.308-10A>G	not provided [RCV003828647]	likely benign	12	53315436	53315436	Human		name
405151882	CV3123426	single nucleotide variant	NM_015665.6(AAAS):c.399+10G>C	not provided [RCV003817659]	likely benign	12	53315325	53315325	Human		name
405140895	CV3125851	single nucleotide variant	NM_015665.6(AAAS):c.446+16C>T	not provided [RCV003816766]	likely benign	12	53315078	53315078	Human		name
405195566	CV3128698	single nucleotide variant	NM_015665.6(AAAS):c.810+19C>T	not provided [RCV003821436]	likely benign	12	53309582	53309582	Human		name
405118038	CV3131025	single nucleotide variant	NM_015665.6(AAAS):c.811-18C>T	not provided [RCV003837081]	likely benign	12	53309299	53309299	Human		name
405129053	CV3132966	single nucleotide variant	NM_015665.6(AAAS):c.252-12C>T	not provided [RCV003838129]	likely benign	12	53315794	53315794	Human		name
405185163	CV3138650	single nucleotide variant	NM_015665.6(AAAS):c.446+16C>G	not provided [RCV003842862]	likely benign	12	53315078	53315078	Human		name
405145400	CV3141514	single nucleotide variant	NM_015665.6(AAAS):c.251+20T>C	not provided [RCV003839631]	likely benign	12	53320545	53320545	Human		name
405201476	CV3143556	single nucleotide variant	NM_015665.6(AAAS):c.545+16C>G	not provided [RCV003844542]	likely benign	12	53314735	53314735	Human		name
405231942	CV3144600	single nucleotide variant	NM_015665.6(AAAS):c.399+11C>T	not provided [RCV003853053]	likely benign	12	53315324	53315324	Human		name
405207361	CV3145551	single nucleotide variant	NM_015665.6(AAAS):c.810+18C>T	not provided [RCV003845281]	likely benign	12	53309583	53309583	Human		name
405190984	CV3149593	single nucleotide variant	NM_015665.6(AAAS):c.935+14G>C	not provided [RCV003843319]	likely benign	12	53309143	53309143	Human		name
405206077	CV3161933	deletion	NM_015665.6(AAAS):c.252-11del	not provided [RCV003861427]	likely benign	12	53315793	53315793	Human		name
405093673	CV3164168	single nucleotide variant	NM_015665.6(AAAS):c.1416+1G>A	not provided [RCV003852483]	pathogenic	12	53307844	53307844	Human		name
405236776	CV3166543	single nucleotide variant	NM_015665.6(AAAS):c.1417-6C>G	not provided [RCV003853992]	likely benign	12	53307719	53307719	Human		name
405237755	CV3169191	single nucleotide variant	NM_015665.6(AAAS):c.1182-7C>T	not provided [RCV003866470]	likely benign	12	53308356	53308356	Human		name
405226176	CV3169371	single nucleotide variant	NM_015665.6(AAAS):c.400-13C>T	not provided [RCV003864395]	likely benign	12	53315153	53315153	Human		name
405255364	CV3172345	single nucleotide variant	NM_015665.6(AAAS):c.1088-6C>A	not provided [RCV003872283]	likely benign	12	53308534	53308534	Human		name
402523817	CV3175863	single nucleotide variant	NM_015665.6(AAAS):c.447-19A>G	not provided [RCV003879963]	likely benign	12	53314868	53314868	Human		name
404984379	CV3184295	single nucleotide variant	NM_015665.6(AAAS):c.307+17C>T	not provided [RCV003880787]	likely benign	12	53315710	53315710	Human		name
11625921	CV325871	single nucleotide variant	NM_015665.6(AAAS):c.1416+8C>T	Glucocorticoid deficiency with achalasia [RCV000404477]\|not provided [RCV003556319]	likely benign\|uncertain significance	12	53307837	53307837	Human	1	name
11618804	CV325875	single nucleotide variant	NM_015665.6(AAAS):c.996+12C>T	Glucocorticoid deficiency with achalasia [RCV000317951]\|not provided [RCV001805011]	conflicting interpretations of pathogenicity\|uncertain significance	12	53308948	53308948	Human	1	name
11623018	CV333564	single nucleotide variant	NM_015665.6(AAAS):c.1249+8G>A	Glucocorticoid deficiency with achalasia [RCV000366879]\|not provided [RCV000888966]	benign\|uncertain significance	12	53308274	53308274	Human	1	name
597725879	CV3710502	single nucleotide variant	NM_015665.6(AAAS):c.1417-2A>C	Glucocorticoid deficiency with achalasia [RCV005011398]	likely pathogenic	12	53307715	53307715	Human	1	name
597908890	CV3749465	single nucleotide variant	NM_015665.6(AAAS):c.1331+8C>T	not provided [RCV005073313]	likely benign	12	53308044	53308044	Human		name
597832999	CV3760362	single nucleotide variant	NM_015665.6(AAAS):c.545+14C>T	not provided [RCV005085105]	likely benign	12	53314737	53314737	Human		name
597922244	CV3775669	single nucleotide variant	NM_015665.6(AAAS):c.1250-2A>C	not provided [RCV005115384]	likely pathogenic	12	53308135	53308135	Human		name
597953803	CV3786540	single nucleotide variant	NM_015665.6(AAAS):c.1417-8C>T	not provided [RCV005121631]	likely benign	12	53307721	53307721	Human		name
597961946	CV3809033	single nucleotide variant	NM_015665.6(AAAS):c.446+20A>G	not provided [RCV005163935]	likely benign	12	53315074	53315074	Human		name
597917242	CV3811134	single nucleotide variant	NM_015665.6(AAAS):c.399+19C>T	not provided [RCV005155169]	likely benign	12	53315316	53315316	Human		name
597976080	CV3829042	single nucleotide variant	NM_015665.6(AAAS):c.252-14T>C	not provided [RCV005169491]	likely benign	12	53315796	53315796	Human		name
13836572	CV587847	single nucleotide variant	NM_015665.6(AAAS):c.1332-2A>T	not provided [RCV000732731]	pathogenic	12	53307931	53307931	Human		name
28869121	CV872267	single nucleotide variant	NM_015665.6(AAAS):c.307+13C>T	Glucocorticoid deficiency with achalasia [RCV001112967]\|not provided [RCV002069821]	likely benign\|uncertain significance	12	53315714	53315714	Human	1	name
150410083	CV1175401	single nucleotide variant	NM_015665.6(AAAS):c.1088-59A>G	Glucocorticoid deficiency with achalasia [RCV001544470]\|not provided [RCV001615286]	benign	12	53308587	53308587	Human	1	name
150410087	CV1175403	single nucleotide variant	NM_015665.6(AAAS):c.252-142C>A	Glucocorticoid deficiency with achalasia [RCV001544472]\|not provided [RCV001615287]	benign	12	53315924	53315924	Human	1	name
150492104	CV1253872	single nucleotide variant	NM_015665.6(AAAS):c.123+259C>T	not provided [RCV001674968]	benign	12	53321084	53321084	Human		name
150503795	CV1285828	single nucleotide variant	NM_015665.6(AAAS):c.123+134G>A	not provided [RCV001719251]	benign	12	53321209	53321209	Human		name
155904349	CV2084061	single nucleotide variant	NM_015665.6(AAAS):c.1417-14T>C	not provided [RCV002858056]	likely benign	12	53307727	53307727	Human		name
402493351	CV2890485	single nucleotide variant	NM_015665.6(AAAS):c.1417-13C>T	not provided [RCV003573237]	likely benign	12	53307726	53307726	Human		name
405232175	CV2896314	single nucleotide variant	NM_015665.6(AAAS):c.1182-15T>C	not provided [RCV003555698]	likely benign	12	53308364	53308364	Human		name
405135714	CV2906895	single nucleotide variant	NM_015665.6(AAAS):c.1250-11A>G	not provided [RCV003560430]	likely benign	12	53308144	53308144	Human		name
402505628	CV2927755	single nucleotide variant	NM_015665.6(AAAS):c.1087+17C>T	not provided [RCV003574426]	likely benign	12	53308708	53308708	Human		name
402514327	CV2936203	single nucleotide variant	NM_015665.6(AAAS):c.1332-18G>T	not provided [RCV003662821]	likely benign	12	53307947	53307947	Human		name
405067910	CV2936806	single nucleotide variant	NM_015665.6(AAAS):c.1416+14G>A	not provided [RCV003659242]	likely benign	12	53307831	53307831	Human		name
402499925	CV2946958	single nucleotide variant	NM_015665.6(AAAS):c.1332-17C>T	not provided [RCV003661498]	likely benign	12	53307946	53307946	Human		name
405163324	CV2951544	single nucleotide variant	NM_015665.6(AAAS):c.1416+15C>G	not provided [RCV003670887]	likely benign	12	53307830	53307830	Human		name
405183432	CV2952845	single nucleotide variant	NM_015665.6(AAAS):c.1250-20C>T	not provided [RCV003676485]	likely benign	12	53308153	53308153	Human		name
405162672	CV2960429	single nucleotide variant	NM_015665.6(AAAS):c.1249+13G>A	not provided [RCV003674796]	likely benign	12	53308269	53308269	Human		name
405145847	CV2962522	single nucleotide variant	NM_015665.6(AAAS):c.1087+16A>C	not provided [RCV003673565]	likely benign	12	53308709	53308709	Human		name
405212318	CV2971065	single nucleotide variant	NM_015665.6(AAAS):c.1087+11G>A	not provided [RCV003679572]	likely benign	12	53308714	53308714	Human		name
405216595	CV2977975	single nucleotide variant	NM_015665.6(AAAS):c.1417-17C>A	not provided [RCV003709335]	likely benign	12	53307730	53307730	Human		name
405238915	CV2983213	single nucleotide variant	NM_015665.6(AAAS):c.1182-16C>T	not provided [RCV003683599]	likely benign	12	53308365	53308365	Human		name
405238121	CV2986630	single nucleotide variant	NM_015665.6(AAAS):c.1249+11A>G	not provided [RCV003683457]	likely benign	12	53308271	53308271	Human		name
405142565	CV3022993	single nucleotide variant	NM_015665.6(AAAS):c.1416+19T>C	not provided [RCV003702646]	likely benign	12	53307826	53307826	Human		name
405134048	CV3115545	single nucleotide variant	NM_015665.6(AAAS):c.1332-13C>T	not provided [RCV003816202]	likely benign	12	53307942	53307942	Human		name
405121529	CV3116562	single nucleotide variant	NM_015665.6(AAAS):c.1416+16T>C	not provided [RCV003814864]	likely benign	12	53307829	53307829	Human		name
405060272	CV3129489	single nucleotide variant	NM_015665.6(AAAS):c.1331+16G>T	not provided [RCV003832758]	likely benign	12	53308036	53308036	Human		name
405050228	CV3137941	single nucleotide variant	NM_015665.6(AAAS):c.1181+18G>C	not provided [RCV003831979]	likely benign	12	53308417	53308417	Human		name
405173064	CV3150430	single nucleotide variant	NM_015665.6(AAAS):c.1331+11T>C	not provided [RCV003841704]	likely benign	12	53308041	53308041	Human		name
405172779	CV3151652	single nucleotide variant	NM_015665.6(AAAS):c.1249+20G>A	not provided [RCV003857803]	likely benign	12	53308262	53308262	Human		name
405163997	CV3153239	single nucleotide variant	NM_015665.6(AAAS):c.1182-16C>A	not provided [RCV003840974]	likely benign	12	53308365	53308365	Human		name
405246989	CV3158646	single nucleotide variant	NM_015665.6(AAAS):c.1331+16G>A	not provided [RCV003868988]	likely benign	12	53308036	53308036	Human		name
597905737	CV3738698	single nucleotide variant	NM_015665.6(AAAS):c.1088-15C>G	not provided [RCV005072932]	likely benign	12	53308543	53308543	Human		name
597960109	CV3746198	single nucleotide variant	NM_015665.6(AAAS):c.1088-17C>G	not provided [RCV005081446]	likely benign	12	53308545	53308545	Human		name
597956579	CV3754673	single nucleotide variant	NM_015665.6(AAAS):c.1181+10G>A	not provided [RCV005080523]	likely benign	12	53308425	53308425	Human		name
597926333	CV3783294	single nucleotide variant	NM_015665.6(AAAS):c.1250-20C>G	not provided [RCV005115980]	likely benign	12	53308153	53308153	Human		name
597852125	CV3821187	single nucleotide variant	NM_015665.6(AAAS):c.1088-15C>T	not provided [RCV005173845]	likely benign	12	53308543	53308543	Human		name
28871754	CV872265	single nucleotide variant	NM_015665.6(AAAS):c.1417-14T>G	Glucocorticoid deficiency with achalasia [RCV001114236]\|not provided [RCV003769139]	likely benign\|uncertain significance	12	53307727	53307727	Human	1	name
405135363	CV2896861	microsatellite	NM_015665.6(AAAS):c.1088-24CT[2]	not provided [RCV003560375]	likely benign	12	53308547	53308548	Human		name
14712845	CV626315	microsatellite	NM_015665.5(AAAS):c.936_937delAG	Glucocorticoid deficiency with achalasia [RCV000791173]\|not provided [RCV003679020]	pathogenic\|likely pathogenic	12	53309019	53309020	Human		name
405198556	CV3132118	single nucleotide variant	NM_015665.6(AAAS):c.6C>T (p.Cys2=)	not provided [RCV003821711]	likely benign	12	53321460	53321460	Human		name
405200350	CV3147265	microsatellite	NM_015665.6(AAAS):c.811-6_811-5del	not provided [RCV003844425]	likely benign	12	53309286	53309287	Human		name
402500747	CV3170478	single nucleotide variant	NM_015665.6(AAAS):c.21C>T (p.Phe7=)	not provided [RCV003877850]	likely benign	12	53321445	53321445	Human		name
151718580	CV1458719	single nucleotide variant	NM_015665.6(AAAS):c.4T>G (p.Cys2Gly)	not provided [RCV002003310]	uncertain significance	12	53321462	53321462	Human		name
156275571	CV1971131	deletion	NM_015665.6(AAAS):c.123+10_123+30del	not provided [RCV002598230]	likely benign	12	53321313	53321333	Human		name
156256460	CV2185299	single nucleotide variant	NM_015665.6(AAAS):c.42T>C (p.Gly14=)	not provided [RCV003043971]	likely benign	12	53321424	53321424	Human		name
405085525	CV2865942	single nucleotide variant	NM_015665.6(AAAS):c.48C>T (p.Val16=)	not provided [RCV003549538]	likely benign	12	53321418	53321418	Human		name
402492336	CV2866835	single nucleotide variant	NM_015665.6(AAAS):c.57T>C (p.Tyr19=)	not provided [RCV003573041]	likely benign	12	53321409	53321409	Human		name
405086960	CV2943270	single nucleotide variant	NM_015665.6(AAAS):c.1A>G (p.Met1Val)	Glucocorticoid deficiency with achalasia [RCV005013066]\|not provided [RCV003665016]	pathogenic\|likely pathogenic	12	53321465	53321465	Human	1	name
405135316	CV2958028	microsatellite	NM_015665.6(AAAS):c.996+14_996+15del	not provided [RCV003672765]	likely benign	12	53308945	53308946	Human		name
405188668	CV2974221	single nucleotide variant	NM_015665.6(AAAS):c.30A>G (p.Pro10=)	not provided [RCV003676995]	likely benign	12	53321436	53321436	Human		name
402513111	CV3039816	single nucleotide variant	NM_015665.6(AAAS):c.63C>T (p.His21=)	not provided [RCV003715848]	likely benign	12	53321403	53321403	Human		name
405147953	CV3152147	deletion	NM_015665.6(AAAS):c.810+10_810+16del	not provided [RCV003856118]	likely benign	12	53309585	53309591	Human		name
405129012	CV3163299	single nucleotide variant	NM_015665.6(AAAS):c.51C>T (p.Thr17=)	not provided [RCV003854480]	likely benign	12	53321415	53321415	Human		name
597886992	CV3741879	single nucleotide variant	NM_015665.6(AAAS):c.45A>G (p.Gln15=)	not provided [RCV005070599]	likely benign	12	53321421	53321421	Human		name
15184153	CV769212	single nucleotide variant	NM_015665.6(AAAS):c.51C>G (p.Thr17=)	not provided [RCV000930745]	likely benign	12	53321415	53321415	Human		name
15133349	CV784426	single nucleotide variant	NM_015665.6(AAAS):c.78G>A (p.Val26=)	not provided [RCV000981538]	likely benign	12	53321388	53321388	Human		name
156329270	CV1957423	single nucleotide variant	NM_015665.6(AAAS):c.10C>G (p.Leu4Val)	not provided [RCV002579903]	uncertain significance	12	53321456	53321456	Human		name
402517926	CV2856796	single nucleotide variant	NM_015665.6(AAAS):c.282T>C (p.Asn94=)	not provided [RCV003575542]	likely benign	12	53315752	53315752	Human		name
402490975	CV2867257	single nucleotide variant	NM_015665.6(AAAS):c.228G>A (p.Val76=)	not provided [RCV003544939]	likely benign	12	53320588	53320588	Human		name
405196399	CV2868980	single nucleotide variant	NM_015665.6(AAAS):c.138T>C (p.Pro46=)	not provided [RCV003550880]	likely benign	12	53320678	53320678	Human		name
405069680	CV2936963	single nucleotide variant	NM_015665.6(AAAS):c.261G>C (p.Val87=)	not provided [RCV003659342]	likely benign	12	53315773	53315773	Human		name
405158956	CV3021284	single nucleotide variant	NM_015665.6(AAAS):c.180G>A (p.Arg60=)	not provided [RCV003703825]	likely benign	12	53320636	53320636	Human		name
405204234	CV3033453	single nucleotide variant	NM_015665.6(AAAS):c.135T>A (p.Leu45=)	not provided [RCV003707793]	likely benign	12	53320681	53320681	Human		name
405200741	CV3041176	single nucleotide variant	NM_015665.6(AAAS):c.171C>T (p.Thr57=)	not provided [RCV003707353]	likely benign	12	53320645	53320645	Human		name
404979971	CV3127899	single nucleotide variant	NM_015665.6(AAAS):c.276G>A (p.Val92=)	not provided [RCV003825931]	likely benign	12	53315758	53315758	Human		name
405035561	CV3140485	single nucleotide variant	NM_015665.6(AAAS):c.279A>G (p.Leu93=)	not provided [RCV003830967]	likely benign	12	53315755	53315755	Human		name
405101535	CV3148084	deletion	NM_015665.6(AAAS):c.1088-12_1088-9del	not provided [RCV003852714]	likely benign	12	53308537	53308540	Human		name
405230735	CV3157265	single nucleotide variant	NM_015665.6(AAAS):c.162C>T (p.Pro54=)	not provided [RCV003865215]	likely benign	12	53320654	53320654	Human		name
405226624	CV3169452	single nucleotide variant	NM_015665.6(AAAS):c.217C>A (p.Arg73=)	not provided [RCV003864476]	likely benign	12	53320599	53320599	Human		name
405255133	CV3171929	single nucleotide variant	NM_015665.6(AAAS):c.144A>G (p.Leu48=)	not provided [RCV003872052]	likely benign	12	53320672	53320672	Human		name
11664190	CV317953	single nucleotide variant	NM_015665.6(AAAS):c.11T>C (p.Leu4Pro)	Glucocorticoid deficiency with achalasia [RCV000403027]	uncertain significance	12	53321455	53321455	Human	1	name
11621765	CV325880	single nucleotide variant	NM_015665.6(AAAS):c.234G>A (p.Lys78=)	Glucocorticoid deficiency with achalasia [RCV000352315]\|not provided [RCV000903961]	benign\|likely benign	12	53320582	53320582	Human	1	name
405659511	CV3278131	single nucleotide variant	NM_015665.6(AAAS):c.26C>G (p.Pro9Arg)	Inborn genetic diseases [RCV004416806]	uncertain significance	12	53321440	53321440	Human	1	name
127286214	CV1108769	deletion	NM_015665.6(AAAS):c.250del (p.Trp84fs)	Glucocorticoid deficiency with achalasia [RCV001449918]	pathogenic	12	53320566	53320566	Human	1	name
150536376	CV1312346	deletion	NM_015665.6(AAAS):c.211del (p.His71fs)	Glucocorticoid deficiency with achalasia [RCV003397000]\|not provided [RCV003319941]	pathogenic	12	53320605	53320605	Human	1	name
150536531	CV1312436	single nucleotide variant	NM_015665.6(AAAS):c.43C>T (p.Gln15Ter)	not provided [RCV003557748]	pathogenic	12	53321423	53321423	Human		name
8658850	CV133700	single nucleotide variant	NM_015665.6(AAAS):c.679T>C (p.Leu227=)	Glucocorticoid deficiency with achalasia [RCV000322296]\|not provided [RCV000116211]\|not specified [RCV000419976]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	53314308	53314308	Human	1	name
8658851	CV133701	single nucleotide variant	NM_015665.6(AAAS):c.855C>T (p.Phe285=)	Glucocorticoid deficiency with achalasia [RCV000378616]\|not provided [RCV001594838]\|not specified [RCV000116212]	benign\|likely benign	12	53309237	53309237	Human	1	name
152096168	CV1559816	single nucleotide variant	NM_015665.6(AAAS):c.438C>T (p.Val146=)	not provided [RCV002213386]	likely benign	12	53315102	53315102	Human		name
152122813	CV1664288	single nucleotide variant	NM_015665.6(AAAS):c.723C>T (p.His241=)	not provided [RCV002154478]	likely benign	12	53309688	53309688	Human		name
155743502	CV1777524	single nucleotide variant	NM_015665.6(AAAS):c.46G>A (p.Val16Ile)	not provided [RCV002303007]	uncertain significance	12	53321420	53321420	Human		name
8596672	CV20083	single nucleotide variant	NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)	AAAS-related disorder [RCV004748500]\|Glucocorticoid deficiency with achalasia [RCV000005347]\|Inborn genetic diseases [RCV004955251]\|not provided [RCV000255807]	pathogenic	12	53321423	53321423	Human	2	name , trait , alternate_id
156267042	CV2011267	single nucleotide variant	NM_015665.6(AAAS):c.423T>C (p.Ala141=)	not provided [RCV002714852]	likely benign	12	53315117	53315117	Human		name
156119649	CV2035816	single nucleotide variant	NM_015665.6(AAAS):c.58G>A (p.Glu20Lys)	not provided [RCV002785738]	uncertain significance	12	53321408	53321408	Human		name
156050271	CV2068347	single nucleotide variant	NM_015665.6(AAAS):c.693C>T (p.Pro231=)	not provided [RCV002846409]	likely benign	12	53309718	53309718	Human		name
156148768	CV2128472	single nucleotide variant	NM_015665.6(AAAS):c.882C>T (p.Leu294=)	not provided [RCV002928826]	benign	12	53309210	53309210	Human		name
156290725	CV2155184	single nucleotide variant	NM_015665.6(AAAS):c.654T>A (p.Leu218=)	not provided [RCV003009958]	likely benign	12	53314333	53314333	Human		name
11633998	CV264533	deletion	NM_015665.5(AAAS):c.310_317delTTTGAGTG	not provided [RCV000386238]	pathogenic	12	53315417	53315424	Human		name
401768505	CV2675392	single nucleotide variant	NM_015665.6(AAAS):c.80C>T (p.Thr27Met)	Inborn genetic diseases [RCV003260162]	uncertain significance	12	53321386	53321386	Human	1	name
401929483	CV2807053	single nucleotide variant	NM_015665.6(AAAS):c.591G>A (p.Ala197=)	not provided [RCV003390251]	likely benign	12	53314396	53314396	Human		name
402514691	CV2855612	single nucleotide variant	NM_015665.6(AAAS):c.684T>C (p.Ser228=)	not provided [RCV003547306]	likely benign	12	53314303	53314303	Human		name
405204403	CV2858580	single nucleotide variant	NM_015665.6(AAAS):c.501A>T (p.Ala167=)	not provided [RCV003551757]	likely benign	12	53314795	53314795	Human		name
402489261	CV2862046	single nucleotide variant	NM_015665.6(AAAS):c.876C>T (p.Asn292=)	not provided [RCV003544786]	likely benign	12	53309216	53309216	Human		name
405176268	CV2864691	single nucleotide variant	NM_015665.6(AAAS):c.70G>T (p.Glu24Ter)	not provided [RCV003542786]	pathogenic	12	53321396	53321396	Human		name
402523891	CV2868217	single nucleotide variant	NM_015665.6(AAAS):c.792C>T (p.Pro264=)	not provided [RCV003547944]	likely benign	12	53309619	53309619	Human		name
405219821	CV2904016	single nucleotide variant	NM_015665.6(AAAS):c.330A>G (p.Ala110=)	not provided [RCV003568229]	likely benign	12	53315404	53315404	Human		name
402471279	CV2904511	single nucleotide variant	NM_015665.6(AAAS):c.909G>C (p.Leu303=)	not provided [RCV003570546]	likely benign	12	53309183	53309183	Human		name
405222058	CV2908330	single nucleotide variant	NM_015665.6(AAAS):c.453C>T (p.Ser151=)	not provided [RCV003568584]	likely benign	12	53314843	53314843	Human		name
405175006	CV2915514	single nucleotide variant	NM_015665.6(AAAS):c.459C>T (p.Cys153=)	not provided [RCV003563460]	likely benign	12	53314837	53314837	Human		name
405214513	CV2925188	deletion	NM_015665.6(AAAS):c.254del (p.Arg85fs)	not provided [RCV003567610]	pathogenic	12	53315780	53315780	Human		name
405031852	CV2926157	single nucleotide variant	NM_015665.6(AAAS):c.396G>C (p.Leu132=)	not provided [RCV003578308]	likely benign	12	53315338	53315338	Human		name
402497489	CV2946622	single nucleotide variant	NM_015665.6(AAAS):c.576G>A (p.Leu192=)	not provided [RCV003661272]	likely benign	12	53314411	53314411	Human		name
405177340	CV2951936	single nucleotide variant	NM_015665.6(AAAS):c.882C>G (p.Leu294=)	not provided [RCV003675864]	likely benign	12	53309210	53309210	Human		name
405161089	CV2955060	single nucleotide variant	NM_015665.6(AAAS):c.828A>G (p.Thr276=)	not provided [RCV003670649]	likely benign	12	53309264	53309264	Human		name
405156661	CV2960899	single nucleotide variant	NM_015665.6(AAAS):c.813A>G (p.Val271=)	not provided [RCV003670432]	likely benign	12	53309279	53309279	Human		name
405233277	CV2965478	single nucleotide variant	NM_015665.6(AAAS):c.927T>C (p.Ala309=)	not provided [RCV003682608]	likely benign	12	53309165	53309165	Human		name
405197821	CV2972959	single nucleotide variant	NM_015665.6(AAAS):c.417G>C (p.Leu139=)	not provided [RCV003677862]	likely benign	12	53315123	53315123	Human		name
405216281	CV2978018	single nucleotide variant	NM_015665.6(AAAS):c.759C>T (p.Ala253=)	not provided [RCV003709360]	likely benign	12	53309652	53309652	Human		name
405214547	CV2981433	single nucleotide variant	NM_015665.6(AAAS):c.382C>T (p.Leu128=)	not provided [RCV003709142]	likely benign	12	53315352	53315352	Human		name
405010722	CV2983579	single nucleotide variant	NM_015665.6(AAAS):c.948C>T (p.Ala316=)	not provided [RCV003693957]	likely benign	12	53309008	53309008	Human		name
405248596	CV2984753	single nucleotide variant	NM_015665.6(AAAS):c.702C>T (p.Gly234=)	not provided [RCV003721076]	likely benign	12	53309709	53309709	Human		name
405225385	CV2989614	deletion	NM_015665.6(AAAS):c.1417-19_1417-18del	not provided [RCV003681329]	likely benign	12	53307731	53307732	Human		name
402514867	CV2993147	single nucleotide variant	NM_015665.6(AAAS):c.363C>T (p.Ala121=)	not provided [RCV003715987]	likely benign	12	53315371	53315371	Human		name
405206937	CV2994452	single nucleotide variant	NM_015665.6(AAAS):c.807C>A (p.Ile269=)	not provided [RCV003678857]	likely benign	12	53309604	53309604	Human		name
405023222	CV3002695	single nucleotide variant	NM_015665.6(AAAS):c.591G>C (p.Ala197=)	not provided [RCV003694922]	likely benign	12	53314396	53314396	Human		name
405131186	CV3011128	single nucleotide variant	NM_015665.6(AAAS):c.747C>T (p.Ser249=)	not provided [RCV003701712]	likely benign	12	53309664	53309664	Human		name
405057305	CV3019614	deletion	NM_015665.6(AAAS):c.1181+19_1181+22del	not provided [RCV003697431]	likely benign	12	53308413	53308416	Human		name
405197034	CV3037727	single nucleotide variant	NM_015665.6(AAAS):c.780C>T (p.Leu260=)	not provided [RCV003706962]	likely benign	12	53309631	53309631	Human		name
405235406	CV3040879	single nucleotide variant	NM_015665.6(AAAS):c.687C>T (p.Thr229=)	not provided [RCV003712263]	likely benign	12	53314300	53314300	Human		name
405253272	CV3044236	single nucleotide variant	NM_015665.6(AAAS):c.303A>G (p.Glu101=)	not provided [RCV003722410]	likely benign	12	53315731	53315731	Human		name
405132717	CV3051321	single nucleotide variant	NM_015665.6(AAAS):c.606G>A (p.Lys202=)	not provided [RCV003724972]	likely benign	12	53314381	53314381	Human		name
405202843	CV3067054	single nucleotide variant	NM_015665.6(AAAS):c.343C>T (p.Leu115=)	not provided [RCV003730905]	likely benign	12	53315391	53315391	Human		name
405119191	CV3134798	single nucleotide variant	NM_015665.6(AAAS):c.912T>C (p.Ala304=)	not provided [RCV003837208]	likely benign	12	53309180	53309180	Human		name
405123476	CV3136336	single nucleotide variant	NM_015665.6(AAAS):c.420C>T (p.Ile140=)	not provided [RCV003837666]	likely benign	12	53315120	53315120	Human		name
405198382	CV3147053	single nucleotide variant	NM_015665.6(AAAS):c.825A>G (p.Ser275=)	not provided [RCV003844213]	likely benign	12	53309267	53309267	Human		name
405173100	CV3150434	single nucleotide variant	NM_015665.6(AAAS):c.405G>A (p.Arg135=)	not provided [RCV003841708]	likely benign	12	53315135	53315135	Human		name
405154081	CV3163099	single nucleotide variant	NM_015665.6(AAAS):c.792C>A (p.Pro264=)	not provided [RCV003856542]	likely benign	12	53309619	53309619	Human		name
405237777	CV3166951	single nucleotide variant	NM_015665.6(AAAS):c.426A>G (p.Glu142=)	not provided [RCV003854206]	likely benign	12	53315114	53315114	Human		name
405193937	CV3167532	single nucleotide variant	NM_015665.6(AAAS):c.558C>T (p.Pro186=)	not provided [RCV003859938]	likely benign	12	53314429	53314429	Human		name
405255510	CV3172491	single nucleotide variant	NM_015665.6(AAAS):c.588G>A (p.Val196=)	not provided [RCV003872429]	likely benign	12	53314399	53314399	Human		name
402466839	CV3177787	single nucleotide variant	NM_015665.6(AAAS):c.408C>T (p.Ser136=)	not provided [RCV003873225]	likely benign	12	53315132	53315132	Human		name
11598743	CV317940	single nucleotide variant	NM_015665.6(AAAS):c.912T>G (p.Ala304=)	Glucocorticoid deficiency with achalasia [RCV000259399]\|not provided [RCV000966397]	likely benign\|uncertain significance	12	53309180	53309180	Human	1	name
11602557	CV317944	single nucleotide variant	NM_015665.6(AAAS):c.414T>C (p.Asp138=)	Glucocorticoid deficiency with achalasia [RCV000291773]\|not provided [RCV001536397]	benign\|likely benign	12	53315126	53315126	Human	4	name
11602557	CV317944	single nucleotide variant	NM_015665.6(AAAS):c.414T>C (p.Asp138=)	Glucocorticoid deficiency with achalasia [RCV000291773]\|not provided [RCV001536397]	benign\|likely benign	12	53315126	53315127	Human	4	name
11622118	CV325876	single nucleotide variant	NM_015665.6(AAAS):c.939C>T (p.Val313=)	Glucocorticoid deficiency with achalasia [RCV000356418]\|not provided [RCV002056318]	likely benign\|uncertain significance	12	53309017	53309017	Human	1	name
11662213	CV325879	single nucleotide variant	NM_015665.6(AAAS):c.663C>G (p.Thr221=)	Glucocorticoid deficiency with achalasia [RCV000383886]\|not provided [RCV000899336]	likely benign\|uncertain significance	12	53314324	53314324	Human	1	name
11620519	CV325881	single nucleotide variant	NM_015665.6(AAAS):c.63C>G (p.His21Gln)	AAAS-related disorder [RCV003930318]\|Glucocorticoid deficiency with achalasia [RCV000337631]\|not provided [RCV000879353]	likely benign\|uncertain significance	12	53321403	53321403	Human	1	name , trait , alternate_id
405683340	CV3286008	single nucleotide variant	NM_015665.6(AAAS):c.52C>G (p.Leu18Val)	Inborn genetic diseases [RCV004422138]	uncertain significance	12	53321414	53321414	Human	1	name
11618687	CV332098	single nucleotide variant	NM_015665.6(AAAS):c.894C>T (p.Asp298=)	Glucocorticoid deficiency with achalasia [RCV000316949]\|not provided [RCV002056319]	likely benign\|uncertain significance	12	53309198	53309198	Human	1	name
11621066	CV332100	single nucleotide variant	NM_015665.6(AAAS):c.333C>T (p.Ser111=)	AAAS-related disorder [RCV003950050]\|Glucocorticoid deficiency with achalasia [RCV000344324]\|not provided [RCV003765811]	likely benign\|uncertain significance	12	53315401	53315401	Human	1	name , trait , alternate_id
11615489	CV333567	single nucleotide variant	NM_015665.6(AAAS):c.843C>G (p.Pro281=)	Glucocorticoid deficiency with achalasia [RCV000286533]\|not provided [RCV000894842]	likely benign\|uncertain significance	12	53309249	53309249	Human	1	name
11618373	CV333582	single nucleotide variant	NM_015665.6(AAAS):c.65A>G (p.Asn22Ser)	Glucocorticoid deficiency with achalasia [RCV000313149]\|Inborn genetic diseases [RCV004955412]	uncertain significance	12	53321401	53321401	Human	2	name
407427663	CV3410794	deletion	NM_015665.6(AAAS):c.281del (p.Asn94fs)	Glucocorticoid deficiency with achalasia [RCV004586441]	likely pathogenic	12	53315753	53315753	Human	1	name
407429340	CV3413727	single nucleotide variant	NM_015665.6(AAAS):c.56A>G (p.Tyr19Cys)	Glucocorticoid deficiency with achalasia [RCV004595136]\|not specified [RCV004767582]	uncertain significance	12	53321410	53321410	Human	1	name
596932657	CV3539283	single nucleotide variant	NM_015665.6(AAAS):c.92A>G (p.Tyr31Cys)	not provided [RCV004793905]	uncertain significance	12	53321374	53321374	Human		name
597694364	CV3584134	single nucleotide variant	NM_015665.6(AAAS):c.66T>A (p.Asn22Lys)	Inborn genetic diseases [RCV004954606]	uncertain significance	12	53321400	53321400	Human	1	name
597725926	CV3710507	deletion	NM_015665.6(AAAS):c.119del (p.Gly40fs)	Glucocorticoid deficiency with achalasia [RCV005011404]	likely pathogenic	12	53321347	53321347	Human	1	name
597948224	CV3771853	single nucleotide variant	NM_015665.6(AAAS):c.939C>G (p.Val313=)	not provided [RCV005120379]	likely benign	12	53309017	53309017	Human		name
597883786	CV3784313	single nucleotide variant	NM_015665.6(AAAS):c.804T>C (p.Ala268=)	not provided [RCV005124601]	likely benign	12	53309607	53309607	Human		name
597884033	CV3834852	single nucleotide variant	NM_015665.6(AAAS):c.768G>A (p.Gly256=)	not provided [RCV005178576]	likely benign	12	53309643	53309643	Human		name
15103519	CV753483	single nucleotide variant	NM_015665.6(AAAS):c.327G>T (p.Thr109=)	Glucocorticoid deficiency with achalasia [RCV001112964]\|not provided [RCV000915178]	benign\|likely benign	12	53315407	53315407	Human	1	name
15119786	CV769211	single nucleotide variant	NM_015665.6(AAAS):c.483C>G (p.Pro161=)	not provided [RCV000940238]	likely benign	12	53314813	53314813	Human		name
28911234	CV870162	single nucleotide variant	NM_015665.6(AAAS):c.981A>G (p.Leu327=)	Glucocorticoid deficiency with achalasia [RCV001110210]\|not provided [RCV003769121]	likely benign\|uncertain significance	12	53308975	53308975	Human	1	name
28911663	CV870163	single nucleotide variant	NM_015665.6(AAAS):c.819T>C (p.Asp273=)	Glucocorticoid deficiency with achalasia [RCV001110959]\|not provided [RCV003718330]	likely benign\|uncertain significance	12	53309273	53309273	Human	1	name
28869117	CV870167	single nucleotide variant	NM_015665.6(AAAS):c.327G>A (p.Thr109=)	Glucocorticoid deficiency with achalasia [RCV001112965]\|not provided [RCV003727865]	likely benign\|uncertain significance	12	53315407	53315407	Human	1	name
150536431	CV1312381	deletion	NM_015665.6(AAAS):c.429del (p.Phe143fs)	Glucocorticoid deficiency with achalasia [RCV001780483]	pathogenic	12	53315111	53315111	Human		name
150542232	CV1313029	deletion	NM_015665.6(AAAS):c.352del (p.Cys118fs)	Glucocorticoid deficiency with achalasia [RCV001782149]	pathogenic	12	53315382	53315382	Human		name
150544461	CV1313358	deletion	NM_015665.6(AAAS):c.618del (p.Ser207fs)	not provided [RCV003557741]	pathogenic	12	53314369	53314369	Human		name
150546293	CV1313661	deletion	NM_015665.6(AAAS):c.922del (p.Ser308fs)	Glucocorticoid deficiency with achalasia [RCV001784759]	pathogenic	12	53309170	53309170	Human		name
150546633	CV1313832	deletion	NM_015665.6(AAAS):c.771del (p.Arg258fs)	Glucocorticoid deficiency with achalasia [RCV005013032]\|not provided [RCV003557738]	pathogenic	12	53309640	53309640	Human	1	name
150547134	CV1314070	deletion	NM_015665.6(AAAS):c.762del (p.Ser255fs)	Glucocorticoid deficiency with achalasia [RCV001785163]\|not provided [RCV003442904]	pathogenic\|likely pathogenic	12	53309649	53309649	Human	1	name
151729478	CV1335373	single nucleotide variant	NM_015665.6(AAAS):c.170C>T (p.Thr57Ile)	not specified [RCV001844691]	uncertain significance	12	53320646	53320646	Human		name
152080582	CV1580046	single nucleotide variant	NM_015665.6(AAAS):c.1635C>T (p.His545=)	not provided [RCV002076312]	likely benign	12	53307495	53307495	Human		name
156411939	CV1894090	single nucleotide variant	NM_015665.6(AAAS):c.1104C>T (p.Cys368=)	not provided [RCV003072690]	likely benign	12	53308512	53308512	Human		name
156297822	CV1901059	single nucleotide variant	NM_015665.6(AAAS):c.1113T>G (p.Gly371=)	not provided [RCV002599026]	likely benign	12	53308503	53308503	Human		name
156099884	CV1981886	single nucleotide variant	NM_015665.6(AAAS):c.227T>A (p.Val76Glu)	not provided [RCV002622172]	uncertain significance	12	53320589	53320589	Human		name
8596671	CV20080	duplication	NM_015665.6(AAAS):c.980dup (p.Ser328fs)	Glucocorticoid deficiency with achalasia [RCV000005344]	pathogenic	12	53308975	53308976	Human	1	name
8558444	CV20087	single nucleotide variant	NM_015665.6(AAAS):c.251G>A (p.Trp84Ter)	Achalasia-alacrima syndrome [RCV002508105]\|Glucocorticoid deficiency with achalasia [RCV000005351]\|not provided [RCV002512803]	pathogenic\|likely pathogenic	12	53320565	53320565	Human	1	name
156209672	CV2074176	single nucleotide variant	NM_015665.6(AAAS):c.107C>G (p.Pro36Arg)	not provided [RCV002829249]	uncertain significance	12	53321359	53321359	Human		name
156098380	CV2136037	single nucleotide variant	NM_015665.6(AAAS):c.1296C>T (p.Arg432=)	not provided [RCV002979884]	likely benign	12	53308087	53308087	Human		name
156286801	CV2172308	single nucleotide variant	NM_015665.6(AAAS):c.1155A>G (p.Thr385=)	not provided [RCV003027519]	likely benign	12	53308461	53308461	Human		name
156300644	CV2244953	single nucleotide variant	NM_015665.6(AAAS):c.290C>T (p.Ala97Val)	Inborn genetic diseases [RCV002748511]	uncertain significance	12	53315744	53315744	Human	1	name
156235896	CV2268052	single nucleotide variant	NM_015665.6(AAAS):c.207C>G (p.Phe69Leu)	Inborn genetic diseases [RCV002853941]	uncertain significance	12	53320609	53320609	Human	1	name
401858028	CV2759492	single nucleotide variant	NM_015665.6(AAAS):c.131A>G (p.Asn44Ser)	Inborn genetic diseases [RCV003341459]	uncertain significance	12	53320685	53320685	Human	1	name
401859678	CV2771790	single nucleotide variant	NM_015665.6(AAAS):c.133C>T (p.Leu45Phe)	Inborn genetic diseases [RCV003357181]	uncertain significance	12	53320683	53320683	Human	1	name
405219843	CV2870290	single nucleotide variant	NM_015665.6(AAAS):c.1215C>T (p.Asp405=)	not provided [RCV003553715]	likely benign	12	53308316	53308316	Human		name
405124528	CV2889553	single nucleotide variant	NM_015665.6(AAAS):c.1341C>T (p.Ile447=)	not provided [RCV003559438]	likely benign	12	53307920	53307920	Human		name
402522084	CV2900083	single nucleotide variant	NM_015665.6(AAAS):c.1596A>G (p.Pro532=)	not provided [RCV003575937]	likely benign	12	53307534	53307534	Human		name
405168384	CV2911631	single nucleotide variant	NM_015665.6(AAAS):c.1044G>A (p.Leu348=)	not provided [RCV003562924]	likely benign	12	53308768	53308768	Human		name
402484429	CV2931397	single nucleotide variant	NM_015665.6(AAAS):c.1209C>G (p.Val403=)	not provided [RCV003572393]	likely benign	12	53308322	53308322	Human		name
405014939	CV2933990	single nucleotide variant	NM_015665.6(AAAS):c.1344G>A (p.Gln448=)	not provided [RCV003577060]	likely benign	12	53307917	53307917	Human		name
402516866	CV2936452	deletion	NM_015665.6(AAAS):c.370del (p.Leu124fs)	not provided [RCV003663015]	pathogenic	12	53315364	53315364	Human		name
402509410	CV2938412	single nucleotide variant	NM_015665.6(AAAS):c.1365C>T (p.Pro455=)	not provided [RCV003662339]	likely benign	12	53307896	53307896	Human		name
405070815	CV2940991	single nucleotide variant	NM_015665.6(AAAS):c.1170T>C (p.Asp390=)	not provided [RCV003663971]	likely benign	12	53308446	53308446	Human		name
405082633	CV2946297	single nucleotide variant	NM_015665.6(AAAS):c.1518T>A (p.Ala506=)	not provided [RCV003664728]	likely benign	12	53307612	53307612	Human		name
405117779	CV2955744	single nucleotide variant	NM_015665.6(AAAS):c.1239G>A (p.Val413=)	not provided [RCV003671136]	likely benign	12	53308292	53308292	Human		name
405166375	CV2957323	single nucleotide variant	NM_015665.6(AAAS):c.1305C>T (p.Asn435=)	not provided [RCV003675010]	likely benign	12	53308078	53308078	Human		name
405155684	CV2960777	single nucleotide variant	NM_015665.6(AAAS):c.1161G>A (p.Gln387=)	not provided [RCV003670357]	likely benign	12	53308455	53308455	Human		name
405187439	CV2964201	single nucleotide variant	NM_015665.6(AAAS):c.1551C>T (p.Leu517=)	not provided [RCV003676886]	likely benign	12	53307579	53307579	Human		name
405226594	CV2967147	single nucleotide variant	NM_015665.6(AAAS):c.1302A>T (p.Arg434=)	not provided [RCV003681524]	likely benign	12	53308081	53308081	Human		name
405237198	CV2969824	single nucleotide variant	NM_015665.6(AAAS):c.1443C>T (p.His481=)	not provided [RCV003683287]	likely benign	12	53307687	53307687	Human		name
405233773	CV2981887	single nucleotide variant	NM_015665.6(AAAS):c.1089T>G (p.Gly363=)	not provided [RCV003711952]	likely benign	12	53308527	53308527	Human		name
405215072	CV2985151	single nucleotide variant	NM_015665.6(AAAS):c.1452G>C (p.Leu484=)	not provided [RCV003709083]	likely benign	12	53307678	53307678	Human		name
405232383	CV2985312	single nucleotide variant	NM_015665.6(AAAS):c.1614G>A (p.Leu538=)	not provided [RCV003711735]	likely benign	12	53307516	53307516	Human		name
402480211	CV2990970	single nucleotide variant	NM_015665.6(AAAS):c.1405C>T (p.Leu469=)	not provided [RCV003686467]	likely benign	12	53307856	53307856	Human		name
405206129	CV2994144	deletion	NM_015665.6(AAAS):c.712del (p.Val238fs)	not provided [RCV003678759]	pathogenic	12	53309699	53309699	Human		name
402504303	CV3007104	deletion	NM_015665.6(AAAS):c.508del (p.Leu170fs)	not provided [RCV003688714]	pathogenic	12	53314788	53314788	Human		name
402492612	CV3008345	single nucleotide variant	NM_015665.6(AAAS):c.1014A>G (p.Pro338=)	not provided [RCV003687683]	likely benign	12	53308798	53308798	Human		name
402497656	CV3015766	duplication	NM_015665.6(AAAS):c.352dup (p.Cys118fs)	not provided [RCV003688171]	pathogenic	12	53315381	53315382	Human		name
405204606	CV3033526	single nucleotide variant	NM_015665.6(AAAS):c.1320G>A (p.Glu440=)	not provided [RCV003707841]	likely benign	12	53308063	53308063	Human		name
405206898	CV3040086	single nucleotide variant	NM_015665.6(AAAS):c.1425C>T (p.Ser475=)	not provided [RCV003708121]	likely benign	12	53307705	53307705	Human		name
405219334	CV3045816	single nucleotide variant	NM_015665.6(AAAS):c.1428A>G (p.Thr476=)	not provided [RCV003733039]	benign	12	53307702	53307702	Human		name
405243558	CV3053838	single nucleotide variant	NM_015665.6(AAAS):c.1203C>G (p.Ser401=)	not provided [RCV003719764]	likely benign	12	53308328	53308328	Human		name
405144157	CV3056237	single nucleotide variant	NM_015665.6(AAAS):c.1272T>C (p.Gly424=)	not provided [RCV003725906]	likely benign	12	53308111	53308111	Human		name
405174654	CV3123038	single nucleotide variant	NM_015665.6(AAAS):c.1287C>A (p.Leu429=)	not provided [RCV003819437]	likely benign	12	53308096	53308096	Human		name
405059512	CV3148209	single nucleotide variant	NM_015665.6(AAAS):c.1449G>A (p.Pro483=)	not provided [RCV003850165]	likely benign	12	53307681	53307681	Human		name
405229893	CV3153481	single nucleotide variant	NM_015665.6(AAAS):c.1011C>T (p.Ser337=)	not provided [RCV003848546]	likely benign	12	53308801	53308801	Human		name
405219799	CV3154265	single nucleotide variant	NM_015665.6(AAAS):c.1450C>T (p.Leu484=)	not provided [RCV003846957]	likely benign	12	53307680	53307680	Human		name
405141336	CV3155315	single nucleotide variant	NM_015665.6(AAAS):c.1263A>G (p.Val421=)	not provided [RCV003855553]	likely benign	12	53308120	53308120	Human		name
405234707	CV3155573	single nucleotide variant	NM_015665.6(AAAS):c.1068G>A (p.Leu356=)	not provided [RCV003853551]	likely benign	12	53308744	53308744	Human		name
405248357	CV3159301	single nucleotide variant	NM_015665.6(AAAS):c.1050G>A (p.Glu350=)	not provided [RCV003869446]	likely benign	12	53308762	53308762	Human		name
405199056	CV3164536	single nucleotide variant	NM_015665.6(AAAS):c.1116A>G (p.Ala372=)	not provided [RCV003860593]	likely benign	12	53308500	53308500	Human		name
405226381	CV3169409	single nucleotide variant	NM_015665.6(AAAS):c.1548C>T (p.Pro516=)	not provided [RCV003864433]	likely benign	12	53307582	53307582	Human		name
405254591	CV3175426	single nucleotide variant	NM_015665.6(AAAS):c.1530C>G (p.Gly510=)	not provided [RCV003871693]	likely benign	12	53307600	53307600	Human		name
11607705	CV317932	single nucleotide variant	NM_015665.6(AAAS):c.1557T>C (p.Thr519=)	AAAS-related disorder [RCV003977906]\|Glucocorticoid deficiency with achalasia [RCV000346438]\|not provided [RCV000972502]	benign\|likely benign	12	53307573	53307573	Human	1	name , trait , alternate_id
11611383	CV317946	single nucleotide variant	NM_015665.6(AAAS):c.259G>T (p.Val87Leu)	Glucocorticoid deficiency with achalasia [RCV000393948]	uncertain significance	12	53315775	53315775	Human	1	name
11602915	CV317949	single nucleotide variant	NM_015665.6(AAAS):c.258T>A (p.Asp86Glu)	Glucocorticoid deficiency with achalasia [RCV000295188]	uncertain significance	12	53315776	53315776	Human	1	name
405654811	CV3276746	single nucleotide variant	NM_015665.6(AAAS):c.107C>T (p.Pro36Leu)	Inborn genetic diseases [RCV004415091]	uncertain significance	12	53321359	53321359	Human	1	name
11648865	CV333560	single nucleotide variant	NM_015665.6(AAAS):c.1566C>T (p.Ser522=)	Glucocorticoid deficiency with achalasia [RCV000284339]\|not provided [RCV003708513]	likely benign\|uncertain significance	12	53307564	53307564	Human	1	name
11625954	CV333563	single nucleotide variant	NM_015665.6(AAAS):c.1515T>C (p.Pro505=)	Glucocorticoid deficiency with achalasia [RCV000404740]\|not provided [RCV000886860]	benign\|likely benign	12	53307615	53307615	Human	1	name
597726546	CV3580480	single nucleotide variant	NM_015665.6(AAAS):c.106C>T (p.Pro36Ser)	Glucocorticoid deficiency with achalasia [RCV005358165]\|Inborn genetic diseases [RCV004962317]	uncertain significance	12	53321360	53321360	Human	2	name
12741094	CV360050	single nucleotide variant	NM_015665.6(AAAS):c.270T>G (p.Phe90Leu)	AAAS-related disorder [RCV003932533]\|Inborn genetic diseases [RCV004022168]\|not provided [RCV002523947]\|not specified [RCV000414073]	likely benign\|uncertain significance	12	53315764	53315764	Human	2	name , trait , alternate_id
597855360	CV3816453	single nucleotide variant	NM_015665.6(AAAS):c.1128G>A (p.Thr376=)	not provided [RCV005146025]	likely benign	12	53308488	53308488	Human		name
597842832	CV3831098	single nucleotide variant	NM_015665.6(AAAS):c.1491G>A (p.Val497=)	not provided [RCV005172479]	likely benign	12	53307639	53307639	Human		name
597888374	CV3859487	single nucleotide variant	NM_015665.6(AAAS):c.1176G>A (p.Glu392=)	not provided [RCV005200143]	likely benign	12	53308440	53308440	Human		name
598207826	CV4000887	single nucleotide variant	NM_015665.6(AAAS):c.238T>G (p.Cys80Gly)	Inborn genetic diseases [RCV005377186]	uncertain significance	12	53320578	53320578	Human	1	name
616934932	CV4009163	duplication	NM_015665.6(AAAS):c.771dup (p.Arg258fs)	Glucocorticoid deficiency with achalasia [RCV005402336]	likely pathogenic	12	53309639	53309640	Human	1	name
12911970	CV417444	single nucleotide variant	NM_015665.6(AAAS):c.200C>T (p.Thr67Ile)	Glucocorticoid deficiency with achalasia [RCV000490645]	likely pathogenic\|uncertain significance	12	53320616	53320616	Human	1	name
15163689	CV725175	single nucleotide variant	NM_015665.6(AAAS):c.1311T>C (p.Pro437=)	not provided [RCV000882027]	likely benign	12	53308072	53308072	Human		name
15123994	CV738738	single nucleotide variant	NM_015665.6(AAAS):c.1479T>C (p.Arg493=)	not provided [RCV000896508]	likely benign	12	53307651	53307651	Human		name
15164516	CV753482	single nucleotide variant	NM_015665.6(AAAS):c.1035C>T (p.Phe345=)	not provided [RCV000926400]	likely benign	12	53308777	53308777	Human		name
15103940	CV769210	single nucleotide variant	NM_015665.6(AAAS):c.1581T>C (p.Pro527=)	not provided [RCV000937290]	likely benign	12	53307549	53307549	Human		name
126738234	CV1017650	single nucleotide variant	NM_015665.6(AAAS):c.772C>T (p.Arg258Trp)	Glucocorticoid deficiency with achalasia [RCV001328918]\|Inborn genetic diseases [RCV004656527]\|not provided [RCV001859253]\|not specified [RCV002242177]	uncertain significance	12	53309639	53309639	Human	2	name
127288666	CV1152503	single nucleotide variant	NM_015665.6(AAAS):c.766G>T (p.Gly256Trp)	Inborn genetic diseases [RCV004656618]\|not provided [RCV001508688]	uncertain significance	12	53309645	53309645	Human	1	name
150541034	CV1312612	duplication	NM_015665.6(AAAS):c.1261dup (p.Val421fs)	Glucocorticoid deficiency with achalasia [RCV001781735]	pathogenic	12	53308121	53308122	Human		name
150541772	CV1312858	single nucleotide variant	NM_015665.6(AAAS):c.500C>T (p.Ala167Val)	Glucocorticoid deficiency with achalasia [RCV004765890]\|not provided [RCV003557743]	pathogenic	12	53314796	53314796	Human	1	name
150541955	CV1312921	deletion	NM_015665.6(AAAS):c.1101del (p.Cys368fs)	Glucocorticoid deficiency with achalasia [RCV001782052]	pathogenic	12	53308515	53308515	Human		name
150542123	CV1312977	single nucleotide variant	NM_015665.6(AAAS):c.602G>A (p.Trp201Ter)	Glucocorticoid deficiency with achalasia [RCV001782110]	pathogenic	12	53314385	53314385	Human		name
150543975	CV1313070	single nucleotide variant	NM_015665.6(AAAS):c.433C>T (p.Gln145Ter)	not provided [RCV003557746]	pathogenic	12	53315107	53315107	Human		name
150544155	CV1313153	deletion	NM_015665.6(AAAS):c.1304del (p.Asn435fs)	Glucocorticoid deficiency with achalasia [RCV001783231]	pathogenic	12	53308079	53308079	Human		name
150544188	CV1313186	single nucleotide variant	NM_015665.6(AAAS):c.856C>T (p.Arg286Ter)	Glucocorticoid deficiency with achalasia [RCV005006041]\|not provided [RCV001868847]	pathogenic	12	53309236	53309236	Human	1	name
150544526	CV1313399	single nucleotide variant	NM_015665.6(AAAS):c.709C>T (p.Gln237Ter)	not provided [RCV003557740]	pathogenic	12	53309702	53309702	Human		name
150544589	CV1313439	single nucleotide variant	NM_015665.6(AAAS):c.884G>A (p.Trp295Ter)	Glucocorticoid deficiency with achalasia [RCV001783517]	pathogenic	12	53309208	53309208	Human		name
150544666	CV1313487	deletion	NM_015665.6(AAAS):c.1389del (p.Phe464fs)	not provided [RCV005245385]	pathogenic	12	53307872	53307872	Human		name
150544765	CV1313559	deletion	NM_015665.6(AAAS):c.1190del (p.Gly397fs)	Glucocorticoid deficiency with achalasia [RCV001783637]	pathogenic	12	53308341	53308341	Human		name
150546439	CV1313741	single nucleotide variant	NM_015665.6(AAAS):c.355C>T (p.Arg119Ter)	Glucocorticoid deficiency with achalasia [RCV003332013]\|not provided [RCV003561308]	pathogenic	12	53315379	53315379	Human	1	name
150546544	CV1313790	single nucleotide variant	NM_015665.6(AAAS):c.901A>T (p.Lys301Ter)	Glucocorticoid deficiency with achalasia [RCV001784889]	pathogenic\|likely pathogenic	12	53309191	53309191	Human	1	name
150546581	CV1313811	single nucleotide variant	NM_015665.6(AAAS):c.852G>A (p.Trp284Ter)	Glucocorticoid deficiency with achalasia [RCV001784911]	pathogenic	12	53309240	53309240	Human	1	name
150546726	CV1313867	single nucleotide variant	NM_015665.6(AAAS):c.577C>T (p.Gln193Ter)	Glucocorticoid deficiency with achalasia [RCV001784967]	pathogenic	12	53314410	53314410	Human		name
150546832	CV1313917	duplication	NM_015665.6(AAAS):c.1104dup (p.Val369fs)	Glucocorticoid deficiency with achalasia [RCV001785010]	pathogenic	12	53308511	53308512	Human		name
150547025	CV1314011	single nucleotide variant	NM_015665.6(AAAS):c.464G>C (p.Arg155Pro)	not provided [RCV003557745]	pathogenic\|likely pathogenic	12	53314832	53314832	Human		name
150547107	CV1314053	single nucleotide variant	NM_015665.6(AAAS):c.788C>T (p.Ser263Leu)	Glucocorticoid deficiency with achalasia [RCV001785146]	pathogenic	12	53309623	53309623	Human		name
150547137	CV1314072	single nucleotide variant	NM_015665.6(AAAS):c.479A>G (p.His160Arg)	not provided [RCV003557744]	pathogenic\|likely pathogenic	12	53314817	53314817	Human		name
150548213	CV1314212	single nucleotide variant	NM_015665.6(AAAS):c.580C>T (p.Arg194Ter)	not provided [RCV003557742]	pathogenic	12	53314407	53314407	Human		name
151729475	CV1335372	single nucleotide variant	NM_015665.6(AAAS):c.387C>A (p.Phe129Leu)	not specified [RCV001844690]	uncertain significance	12	53315347	53315347	Human		name
151843386	CV1363285	single nucleotide variant	NM_015665.6(AAAS):c.638G>C (p.Cys213Ser)	Glucocorticoid deficiency with achalasia [RCV002479834]\|Inborn genetic diseases [RCV004044869]\|not provided [RCV002032091]	uncertain significance	12	53314349	53314349	Human	2	name
151771589	CV1380432	single nucleotide variant	NM_015665.6(AAAS):c.712G>C (p.Val238Leu)	not provided [RCV002025412]	uncertain significance	12	53309699	53309699	Human		name
151873265	CV1499506	single nucleotide variant	NM_015665.6(AAAS):c.826A>G (p.Thr276Ala)	Inborn genetic diseases [RCV004038963]\|not provided [RCV001885545]	uncertain significance	12	53309266	53309266	Human	1	name
152153423	CV1667642	single nucleotide variant	NM_015665.6(AAAS):c.721C>T (p.His241Tyr)	Glucocorticoid deficiency with achalasia [RCV002221393]	uncertain significance	12	53309690	53309690	Human	1	name
152153468	CV1667660	single nucleotide variant	NM_015665.6(AAAS):c.847C>T (p.Pro283Ser)	Glucocorticoid deficiency with achalasia [RCV002221411]	uncertain significance	12	53309245	53309245	Human	1	name
152982570	CV1677498	single nucleotide variant	NM_015665.6(AAAS):c.887C>A (p.Ser296Tyr)	Glucocorticoid deficiency with achalasia [RCV002249207]	pathogenic	12	53309205	53309205	Human	1	name
155644015	CV1708334	deletion	NM_015665.6(AAAS):c.1448del (p.Pro483fs)	Glucocorticoid deficiency with achalasia [RCV002290323]	uncertain significance	12	53307682	53307682	Human	1	name
156312214	CV1874502	single nucleotide variant	NM_015665.6(AAAS):c.991T>C (p.Cys331Arg)	not provided [RCV003062519]	uncertain significance	12	53308965	53308965	Human		name
156209385	CV1909646	single nucleotide variant	NM_015665.6(AAAS):c.358T>C (p.Trp120Arg)	Inborn genetic diseases [RCV002596005]\|not provided [RCV002610688]	uncertain significance	12	53315376	53315376	Human	1	name
10056005	CV198632	single nucleotide variant	NM_015665.6(AAAS):c.938T>C (p.Val313Ala)	Glucocorticoid deficiency with achalasia [RCV000184015]	pathogenic\|likely pathogenic	12	53309018	53309018	Human	1	name
8596669	CV20078	single nucleotide variant	NM_015665.6(AAAS):c.934C>T (p.Arg312Ter)	Glucocorticoid deficiency with achalasia [RCV000005342]\|not provided [RCV002288466]	pathogenic\|likely pathogenic	12	53309158	53309158	Human	1	name
8596673	CV20084	single nucleotide variant	NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)	Glucocorticoid deficiency with achalasia [RCV000005348]\|Hyperreflexia [RCV000415076]\|Inborn genetic diseases [RCV000624696]\|not provided [RCV000311283]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	12	53309624	53309624	Human	6	name
156120187	CV2015896	single nucleotide variant	NM_015665.6(AAAS):c.581G>A (p.Arg194Gln)	not provided [RCV002696006]	uncertain significance	12	53314406	53314406	Human		name
156228060	CV2048536	single nucleotide variant	NM_015665.6(AAAS):c.356G>A (p.Arg119Gln)	not provided [RCV002790887]	likely benign	12	53315378	53315378	Human		name
156198313	CV2092376	single nucleotide variant	NM_015665.6(AAAS):c.326C>T (p.Thr109Met)	Inborn genetic diseases [RCV002917696]\|not provided [RCV002900357]	uncertain significance	12	53315408	53315408	Human	1	name
156024082	CV2105978	single nucleotide variant	NM_015665.6(AAAS):c.431C>T (p.Ala144Val)	Inborn genetic diseases [RCV004067123]\|not provided [RCV002923209]	uncertain significance	12	53315109	53315109	Human	1	name
156327996	CV2219986	single nucleotide variant	NM_015665.6(AAAS):c.350T>C (p.Leu117Pro)	Inborn genetic diseases [RCV002717646]	uncertain significance	12	53315384	53315384	Human	1	name
156383161	CV2223800	single nucleotide variant	NM_015665.6(AAAS):c.526C>T (p.Arg176Cys)	Inborn genetic diseases [RCV002722928]	uncertain significance	12	53314770	53314770	Human	1	name
155926625	CV2230651	single nucleotide variant	NM_015665.6(AAAS):c.757G>A (p.Ala253Thr)	Inborn genetic diseases [RCV002728180]	uncertain significance	12	53309654	53309654	Human	1	name
156136471	CV2245708	single nucleotide variant	NM_015665.6(AAAS):c.766G>C (p.Gly256Arg)	Inborn genetic diseases [RCV002763261]	uncertain significance	12	53309645	53309645	Human	1	name
329392282	CV2441389	single nucleotide variant	NM_015665.6(AAAS):c.571C>G (p.Arg191Gly)	Inborn genetic diseases [RCV003192584]	uncertain significance	12	53314416	53314416	Human	1	name
329396522	CV2459688	single nucleotide variant	NM_015665.6(AAAS):c.880C>T (p.Leu294Phe)	Inborn genetic diseases [RCV003219598]	uncertain significance	12	53309212	53309212	Human	1	name
401742921	CV2673907	single nucleotide variant	NM_015665.6(AAAS):c.725C>T (p.Pro242Leu)	Inborn genetic diseases [RCV003251811]	uncertain significance	12	53309686	53309686	Human	1	name
401733408	CV2691293	single nucleotide variant	NM_015665.6(AAAS):c.613A>G (p.Ser205Gly)	Inborn genetic diseases [RCV003290467]	uncertain significance	12	53314374	53314374	Human	1	name
401769618	CV2731471	single nucleotide variant	NM_015665.6(AAAS):c.572G>A (p.Arg191Gln)	Inborn genetic diseases [RCV003283776]	uncertain significance	12	53314415	53314415	Human	1	name
401894849	CV2781904	single nucleotide variant	NM_015665.6(AAAS):c.923C>T (p.Ser308Leu)	Glucocorticoid deficiency with achalasia [RCV005356415]\|Inborn genetic diseases [RCV003371935]	uncertain significance	12	53309169	53309169	Human	2	name
401934575	CV2800469	single nucleotide variant	NM_015665.6(AAAS):c.334G>A (p.Gly112Ser)	AAAS-related disorder [RCV003411998]	uncertain significance	12	53315400	53315400	Human		name , trait , alternate_id
401940419	CV2839265	single nucleotide variant	NM_015665.6(AAAS):c.649A>G (p.Ile217Val)	Glucocorticoid deficiency with achalasia [RCV003448824]	uncertain significance	12	53314338	53314338	Human	1	name
404977902	CV2851820	single nucleotide variant	NM_015665.6(AAAS):c.899G>T (p.Ser300Ile)	Glucocorticoid deficiency with achalasia [RCV003486348]	uncertain significance	12	53309193	53309193	Human	1	name
405177039	CV2861018	single nucleotide variant	NM_015665.6(AAAS):c.409G>T (p.Glu137Ter)	not provided [RCV003542850]	pathogenic	12	53315131	53315131	Human		name
405189736	CV2924585	single nucleotide variant	NM_015665.6(AAAS):c.816G>A (p.Trp272Ter)	not provided [RCV003564796]	pathogenic	12	53309276	53309276	Human		name
405067979	CV2944529	single nucleotide variant	NM_015665.6(AAAS):c.972G>A (p.Trp324Ter)	not provided [RCV003663736]	pathogenic	12	53308984	53308984	Human		name
405239074	CV2983080	duplication	NM_015665.6(AAAS):c.1320dup (p.Leu441fs)	not provided [RCV003683555]	pathogenic	12	53308062	53308063	Human		name
405030407	CV3012684	single nucleotide variant	NM_015665.6(AAAS):c.956G>A (p.Trp319Ter)	not provided [RCV003695523]	pathogenic	12	53309000	53309000	Human		name
405203795	CV3033370	deletion	NM_015665.6(AAAS):c.1366del (p.Gln456fs)	Glucocorticoid deficiency with achalasia [RCV005013119]\|not provided [RCV003707740]	pathogenic\|likely pathogenic	12	53307895	53307895	Human	1	name
405142902	CV3131220	single nucleotide variant	NM_015665.6(AAAS):c.557C>G (p.Pro186Arg)	not provided [RCV003839260]	uncertain significance	12	53314430	53314430	Human		name
405257307	CV3222516	single nucleotide variant	NM_015665.6(AAAS):c.301G>T (p.Glu101Ter)	Glucocorticoid deficiency with achalasia [RCV003986012]	likely pathogenic	12	53315733	53315733	Human	1	name
405661050	CV3289197	single nucleotide variant	NM_015665.6(AAAS):c.475T>C (p.Trp159Arg)	Inborn genetic diseases [RCV004417318]	uncertain significance	12	53314821	53314821	Human	1	name
407427259	CV3410563	single nucleotide variant	NM_015665.6(AAAS):c.885G>C (p.Trp295Cys)	not specified [RCV004586210]	uncertain significance	12	53309207	53309207	Human		name
407427548	CV3410722	single nucleotide variant	NM_015665.6(AAAS):c.885G>T (p.Trp295Cys)	not specified [RCV004586369]	uncertain significance	12	53309207	53309207	Human		name
407469360	CV3480406	single nucleotide variant	NM_015665.6(AAAS):c.353G>A (p.Cys118Tyr)	Inborn genetic diseases [RCV004661451]	uncertain significance	12	53315381	53315381	Human	1	name
597692463	CV3587506	single nucleotide variant	NM_015665.6(AAAS):c.421G>A (p.Ala141Thr)	Inborn genetic diseases [RCV004954346]	uncertain significance	12	53315119	53315119	Human	1	name
597692388	CV3590952	single nucleotide variant	NM_015665.6(AAAS):c.805A>G (p.Ile269Val)	Inborn genetic diseases [RCV004954336]	uncertain significance	12	53309606	53309606	Human	1	name
12742286	CV360129	single nucleotide variant	NM_015665.6(AAAS):c.500C>A (p.Ala167Glu)	not provided [RCV000413311]	pathogenic\|likely pathogenic	12	53314796	53314796	Human		name
12840023	CV372446	single nucleotide variant	NM_015665.6(AAAS):c.942G>C (p.Trp314Cys)	not provided [RCV000429911]	uncertain significance	12	53309014	53309014	Human		name
598124775	CV3885388	single nucleotide variant	NM_015665.6(AAAS):c.903A>C (p.Lys301Asn)	not specified [RCV005239965]	uncertain significance	12	53309189	53309189	Human		name
598256650	CV3995322	single nucleotide variant	NM_015665.6(AAAS):c.895G>A (p.Gly299Ser)	Inborn genetic diseases [RCV005385899]	uncertain significance	12	53309197	53309197	Human	1	name
598159577	CV4001228	single nucleotide variant	NM_015665.6(AAAS):c.968G>A (p.Arg323Lys)	Inborn genetic diseases [RCV005390197]	uncertain significance	12	53308988	53308988	Human	1	name
598266948	CV4001734	single nucleotide variant	NM_015665.6(AAAS):c.599C>T (p.Ala200Val)	Inborn genetic diseases [RCV005388265]	uncertain significance	12	53314388	53314388	Human	1	name
598190507	CV4008845	deletion	NM_015665.6(AAAS):c.1482del (p.Phe494fs)	Glucocorticoid deficiency with achalasia [RCV005396344]	uncertain significance	12	53307648	53307648	Human	1	name
12913637	CV421943	duplication	NM_015665.6(AAAS):c.1191dup (p.Glu398fs)	AAAS-related disorder [RCV003962360]\|Glucocorticoid deficiency with achalasia [RCV001782989]\|not provided [RCV000494064]	pathogenic	12	53308339	53308340	Human	1	name , trait , alternate_id
12913136	CV421944	single nucleotide variant	NM_015665.6(AAAS):c.885G>A (p.Trp295Ter)	Glucocorticoid deficiency with achalasia [RCV004545882]\|not provided [RCV000493433]	pathogenic\|benign	12	53309207	53309207	Human	1	name
38597067	CV801887	single nucleotide variant	NM_015665.6(AAAS):c.463C>T (p.Arg155Cys)	Abnormality of the nervous system [RCV001814251]\|Microcephaly [RCV001252886]	likely pathogenic\|uncertain significance	12	53314833	53314833	Human	4	name
26918311	CV840079	single nucleotide variant	NM_015665.6(AAAS):c.688C>T (p.Arg230Ter)	Glucocorticoid deficiency with achalasia [RCV001784588]\|not provided [RCV001043399]	pathogenic	12	53314299	53314299	Human	1	name
28894544	CV859992	single nucleotide variant	NM_015665.6(AAAS):c.464G>A (p.Arg155His)	Glucocorticoid deficiency with achalasia [RCV001706976]\|not provided [RCV001092484]	pathogenic\|likely pathogenic	12	53314832	53314832	Human	1	name
28911233	CV870161	single nucleotide variant	NM_015665.6(AAAS):c.988C>T (p.Arg330Cys)	Glucocorticoid deficiency with achalasia [RCV001110209]	uncertain significance	12	53308968	53308968	Human	1	name
28911664	CV870164	single nucleotide variant	NM_015665.6(AAAS):c.808C>T (p.Arg270Trp)	Glucocorticoid deficiency with achalasia [RCV001110960]\|Inborn genetic diseases [RCV004032158]	uncertain significance	12	53309603	53309603	Human	2	name
28911665	CV870165	single nucleotide variant	NM_015665.6(AAAS):c.667G>C (p.Asp223His)	Glucocorticoid deficiency with achalasia [RCV001110961]	uncertain significance	12	53314320	53314320	Human	1	name
28869114	CV870166	single nucleotide variant	NM_015665.6(AAAS):c.362C>T (p.Ala121Val)	Glucocorticoid deficiency with achalasia [RCV001112963]	uncertain significance	12	53315372	53315372	Human	1	name
28869119	CV870168	single nucleotide variant	NM_015665.6(AAAS):c.308T>C (p.Val103Ala)	Glucocorticoid deficiency with achalasia [RCV001112966]\|not provided [RCV003558675]	likely benign\|uncertain significance	12	53315426	53315426	Human	1	name
150556252	CV1296805	single nucleotide variant	NM_015665.6(AAAS):c.1240C>T (p.Leu414Phe)	not provided [RCV001774095]	uncertain significance	12	53308291	53308291	Human		name
150546906	CV1313952	single nucleotide variant	NM_015665.6(AAAS):c.1024C>T (p.Arg342Ter)	Glucocorticoid deficiency with achalasia [RCV005410963]\|not provided [RCV003557737]	pathogenic	12	53308788	53308788	Human	1	name
150547136	CV1314071	single nucleotide variant	NM_015665.6(AAAS):c.1142T>G (p.Leu381Arg)	Glucocorticoid deficiency with achalasia [RCV001785164]	likely pathogenic	12	53308474	53308474	Human		name
150540573	CV1314698	single nucleotide variant	NM_015665.6(AAAS):c.1421G>A (p.Trp474Ter)	Glucocorticoid deficiency with achalasia [RCV001781131]	pathogenic	12	53307709	53307709	Human		name
150543289	CV1315168	single nucleotide variant	NM_015665.6(AAAS):c.1366C>T (p.Gln456Ter)	Glucocorticoid deficiency with achalasia [RCV001782625]	pathogenic	12	53307895	53307895	Human		name
151820564	CV1398246	single nucleotide variant	NM_015665.6(AAAS):c.1376C>T (p.Thr459Ile)	not provided [RCV002013334]	uncertain significance	12	53307885	53307885	Human		name
151799870	CV1430733	single nucleotide variant	NM_015665.6(AAAS):c.1295G>A (p.Arg432His)	not provided [RCV001877277]	uncertain significance	12	53308088	53308088	Human		name
151782509	CV1439454	single nucleotide variant	NM_015665.6(AAAS):c.1448C>T (p.Pro483Leu)	Glucocorticoid deficiency with achalasia [RCV002484911]\|not provided [RCV002009874]	uncertain significance	12	53307682	53307682	Human	1	name
151813510	CV1448003	single nucleotide variant	NM_015665.6(AAAS):c.1080A>C (p.Glu360Asp)	Inborn genetic diseases [RCV002556307]\|not provided [RCV001918849]	uncertain significance	12	53308732	53308732	Human	1	name
155799822	CV1862643	single nucleotide variant	NM_015665.6(AAAS):c.1223G>A (p.Gly408Glu)	Glucocorticoid deficiency with achalasia [RCV002472050]	uncertain significance	12	53308308	53308308	Human	1	name
156417713	CV1910004	single nucleotide variant	NM_015665.6(AAAS):c.1234G>A (p.Ala412Thr)	not provided [RCV002610874]	uncertain significance	12	53308297	53308297	Human		name
156407742	CV1915065	single nucleotide variant	NM_015665.6(AAAS):c.1517C>G (p.Ala506Gly)	Glucocorticoid deficiency with achalasia [RCV004698577]\|Inborn genetic diseases [RCV005382569]\|not provided [RCV002606989]	benign\|uncertain significance	12	53307613	53307613	Human	2	name
156434157	CV1946883	single nucleotide variant	NM_015665.6(AAAS):c.1433G>T (p.Arg478Leu)	Inborn genetic diseases [RCV004244496]\|not provided [RCV003104340]	uncertain significance	12	53307697	53307697	Human	1	name
156334373	CV2000872	single nucleotide variant	NM_015665.6(AAAS):c.1228C>T (p.Arg410Cys)	not provided [RCV002649995]	uncertain significance	12	53308303	53308303	Human		name
8596670	CV20079	single nucleotide variant	NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter)	Glucocorticoid deficiency with achalasia [RCV000005343]\|Neurodevelopmental disorder [RCV001778647]\|not provided [RCV000255523]	pathogenic	12	53307698	53307698	Human	2	name
8596674	CV20086	single nucleotide variant	NM_015665.6(AAAS):c.1288C>T (p.Leu430Phe)	Achalasia-alacrima syndrome [RCV002508104]	pathogenic\|likely pathogenic	12	53308095	53308095	Human	1	name
156301449	CV2013479	single nucleotide variant	NM_015665.6(AAAS):c.1554T>G (p.Phe518Leu)	not provided [RCV002716080]	uncertain significance	12	53307576	53307576	Human		name
155960048	CV2023555	single nucleotide variant	NM_015665.6(AAAS):c.1187G>A (p.Gly396Glu)	not provided [RCV002731131]	uncertain significance	12	53308344	53308344	Human		name
156350415	CV2122134	single nucleotide variant	NM_015665.6(AAAS):c.1015G>C (p.Asp339His)	Glucocorticoid deficiency with achalasia [RCV005356228]\|Inborn genetic diseases [RCV002966255]\|not provided [RCV002943614]	uncertain significance	12	53308797	53308797	Human	2	name
156090569	CV2135527	single nucleotide variant	NM_015665.6(AAAS):c.1598G>A (p.Gly533Glu)	not provided [RCV003001818]	uncertain significance	12	53307532	53307532	Human		name
156361229	CV2158832	single nucleotide variant	NM_015665.6(AAAS):c.1555A>C (p.Thr519Pro)	not provided [RCV003031578]	uncertain significance	12	53307575	53307575	Human		name
156236600	CV2224137	single nucleotide variant	NM_015665.6(AAAS):c.1577C>G (p.Ala526Gly)	Inborn genetic diseases [RCV002713106]	uncertain significance	12	53307553	53307553	Human	1	name
156278246	CV2297371	single nucleotide variant	NM_015665.6(AAAS):c.1307G>A (p.Ser436Asn)	Inborn genetic diseases [RCV002896347]	uncertain significance	12	53308076	53308076	Human	1	name
156266131	CV2299346	single nucleotide variant	NM_015665.6(AAAS):c.1433G>C (p.Arg478Pro)	Inborn genetic diseases [RCV002855731]\|not provided [RCV005059333]	uncertain significance	12	53307697	53307697	Human	1	name
155910639	CV2303640	single nucleotide variant	NM_015665.6(AAAS):c.1364C>T (p.Pro455Leu)	Inborn genetic diseases [RCV002902531]	uncertain significance	12	53307897	53307897	Human	1	name
156102771	CV2352315	single nucleotide variant	NM_015665.6(AAAS):c.1478G>A (p.Arg493His)	Inborn genetic diseases [RCV002980096]	uncertain significance	12	53307652	53307652	Human	1	name
243053241	CV2418162	single nucleotide variant	NM_015665.6(AAAS):c.1087G>A (p.Gly363Ser)	Glucocorticoid deficiency with achalasia [RCV003153228]	uncertain significance	12	53308725	53308725	Human	1	name
329352345	CV2452898	single nucleotide variant	NM_015665.6(AAAS):c.1136C>T (p.Ala379Val)	Inborn genetic diseases [RCV003200448]	uncertain significance	12	53308480	53308480	Human	1	name
11560221	CV260026	single nucleotide variant	NM_015665.6(AAAS):c.1159C>T (p.Gln387Ter)	not provided [RCV000255961]	pathogenic	12	53308457	53308457	Human		name
11558031	CV260029	single nucleotide variant	NM_015665.6(AAAS):c.1058T>C (p.Ile353Thr)	Glucocorticoid deficiency with achalasia [RCV001263462]\|not provided [RCV000254739]	likely pathogenic\|uncertain significance	12	53308754	53308754	Human	1	name
401726184	CV2695592	single nucleotide variant	NM_015665.6(AAAS):c.1078G>A (p.Glu360Lys)	Inborn genetic diseases [RCV003246275]	uncertain significance	12	53308734	53308734	Human	1	name
401770960	CV2700782	single nucleotide variant	NM_015665.6(AAAS):c.1264C>G (p.Gln422Glu)	Inborn genetic diseases [RCV003261287]	uncertain significance	12	53308119	53308119	Human	1	name
401856134	CV2764395	single nucleotide variant	NM_015665.6(AAAS):c.1082G>A (p.Arg361His)	Inborn genetic diseases [RCV003340246]	uncertain significance	12	53308730	53308730	Human	1	name
405113233	CV2900528	single nucleotide variant	NM_015665.6(AAAS):c.1468C>T (p.Gln490Ter)	not provided [RCV003558099]	uncertain significance	12	53307662	53307662	Human		name
11607408	CV317931	single nucleotide variant	NM_015665.6(AAAS):c.1597G>A (p.Gly533Arg)	Glucocorticoid deficiency with achalasia [RCV000343022]\|not provided [RCV000886859]	benign\|likely benign	12	53307533	53307533	Human	1	name
11609087	CV317936	single nucleotide variant	NM_015665.6(AAAS):c.1450C>G (p.Leu484Val)	Glucocorticoid deficiency with achalasia [RCV000363575]	uncertain significance	12	53307680	53307680	Human	1	name
405261101	CV3186055	single nucleotide variant	NM_015665.6(AAAS):c.1187G>C (p.Gly396Ala)	not provided [RCV003885131]	uncertain significance	12	53308344	53308344	Human		name
11652716	CV325845	single nucleotide variant	NM_015665.6(AAAS):c.1498C>T (p.Arg500Trp)	Glucocorticoid deficiency with achalasia [RCV000306536]	uncertain significance	12	53307632	53307632	Human	1	name
11618544	CV325873	single nucleotide variant	NM_015665.6(AAAS):c.1301G>A (p.Arg434Gln)	Glucocorticoid deficiency with achalasia [RCV000314857]\|not provided [RCV002056317]	benign\|uncertain significance	12	53308082	53308082	Human	1	name
405817998	CV3280692	single nucleotide variant	NM_015665.6(AAAS):c.1248A>C (p.Lys416Asn)	Inborn genetic diseases [RCV004413008]	uncertain significance	12	53308283	53308283	Human	1	name
405816099	CV3281054	single nucleotide variant	NM_015665.6(AAAS):c.1433G>A (p.Arg478Gln)	Inborn genetic diseases [RCV004411108]	uncertain significance	12	53307697	53307697	Human	1	name
405658038	CV3284752	single nucleotide variant	NM_015665.6(AAAS):c.1517C>T (p.Ala506Val)	Inborn genetic diseases [RCV004416306]	uncertain significance	12	53307613	53307613	Human	1	name
11663071	CV332097	single nucleotide variant	NM_015665.6(AAAS):c.1591C>T (p.Leu531Phe)	Glucocorticoid deficiency with achalasia [RCV000391927]	uncertain significance	12	53307539	53307539	Human	1	name
11614152	CV333566	single nucleotide variant	NM_015665.6(AAAS):c.1244T>C (p.Met415Thr)	Glucocorticoid deficiency with achalasia [RCV000274630]\|not provided [RCV001859850]	uncertain significance	12	53308287	53308287	Human	1	name
407509081	CV3473882	single nucleotide variant	NM_015665.6(AAAS):c.1319A>T (p.Glu440Val)	Inborn genetic diseases [RCV004672248]	uncertain significance	12	53308064	53308064	Human	1	name
407514488	CV3480044	single nucleotide variant	NM_015665.6(AAAS):c.1436T>C (p.Ile479Thr)	Inborn genetic diseases [RCV004674574]	uncertain significance	12	53307694	53307694	Human	1	name
408391382	CV3523169	indel	NM_015665.6(AAAS):c.1331+3_1331+4delinsGC	not provided [RCV004770541]	uncertain significance	12	53308048	53308049	Human		name
596923074	CV3530244	single nucleotide variant	NM_015665.6(AAAS):c.1205T>C (p.Met402Thr)	not provided [RCV004776843]	uncertain significance	12	53308326	53308326	Human		name
596921048	CV3534495	single nucleotide variant	NM_015665.6(AAAS):c.1007G>A (p.Trp336Ter)	Glucocorticoid deficiency with achalasia [RCV004783714]	pathogenic	12	53308805	53308805	Human	1	name
597693504	CV3580983	single nucleotide variant	NM_015665.6(AAAS):c.1105G>A (p.Val369Ile)	Inborn genetic diseases [RCV004954486]	uncertain significance	12	53308511	53308511	Human	1	name
597705224	CV3584639	single nucleotide variant	NM_015665.6(AAAS):c.1499G>A (p.Arg500Gln)	Inborn genetic diseases [RCV004957223]	uncertain significance	12	53307631	53307631	Human	1	name
597694890	CV3591488	single nucleotide variant	NM_015665.6(AAAS):c.1165C>T (p.Pro389Ser)	Inborn genetic diseases [RCV004954675]	uncertain significance	12	53308451	53308451	Human	1	name
597847486	CV3736719	single nucleotide variant	NM_015665.6(AAAS):c.1190G>T (p.Gly397Val)	not provided [RCV005065878]	uncertain significance	12	53308341	53308341	Human		name
598228966	CV3896235	single nucleotide variant	NM_015665.6(AAAS):c.1350G>C (p.Glu450Asp)	Glucocorticoid deficiency with achalasia [RCV005362453]	uncertain significance	12	53307911	53307911	Human	1	name
598233132	CV3994921	single nucleotide variant	NM_015665.6(AAAS):c.1294C>T (p.Arg432Cys)	Inborn genetic diseases [RCV005381671]	likely benign	12	53308089	53308089	Human	1	name
616934322	CV4012319	single nucleotide variant	NM_015665.6(AAAS):c.1406T>C (p.Leu469Pro)	Glucocorticoid deficiency with achalasia [RCV005409355]	likely pathogenic	12	53307855	53307855	Human	1	name
14693038	CV620445	single nucleotide variant	NM_015665.6(AAAS):c.1300C>T (p.Arg434Ter)	not provided [RCV003558580]	pathogenic\|uncertain significance	12	53308083	53308083	Human		name
15133059	CV784425	single nucleotide variant	NM_015665.6(AAAS):c.1070C>T (p.Ser357Phe)	Glucocorticoid deficiency with achalasia [RCV001110208]\|Inborn genetic diseases [RCV002548455]\|not provided [RCV000981492]	likely benign\|uncertain significance	12	53308742	53308742	Human	2	name
28871757	CV870160	single nucleotide variant	NM_015665.6(AAAS):c.1229G>A (p.Arg410His)	Glucocorticoid deficiency with achalasia [RCV001114237]	uncertain significance	12	53308302	53308302	Human	1	name
402496825	CV2988619	microsatellite	NM_015665.6(AAAS):c.211_214dup (p.His72fs)	not provided [RCV003714267]	pathogenic	12	53320601	53320602	Human		name
150546225	CV1313634	deletion	NM_015665.6(AAAS):c.928_931del (p.Val310fs)	Glucocorticoid deficiency with achalasia [RCV001784732]	pathogenic	12	53309161	53309164	Human		name
150546490	CV1313764	deletion	NM_015665.6(AAAS):c.470_471del (p.Phe157fs)	Glucocorticoid deficiency with achalasia [RCV001784862]	pathogenic	12	53314825	53314826	Human		name
150547138	CV1314073	microsatellite	NM_015665.6(AAAS):c.781_782del (p.Ala262fs)	Glucocorticoid deficiency with achalasia [RCV001785166]	likely pathogenic	12	53309629	53309630	Human		name
405085635	CV2865971	duplication	NM_015665.6(AAAS):c.489_511dup (p.Leu171fs)	not provided [RCV003549546]	pathogenic	12	53314784	53314785	Human		name
150544335	CV1313282	duplication	NM_015665.6(AAAS):c.1061_1062dup (p.Ser355fs)	Glucocorticoid deficiency with achalasia [RCV001783353]	pathogenic	12	53308749	53308750	Human		name
150544716	CV1313525	deletion	NM_015665.6(AAAS):c.1368_1372del (p.Gln456fs)	Glucocorticoid deficiency with achalasia [RCV001783603]	pathogenic	12	53307889	53307893	Human		name
150546129	CV1313596	deletion	NM_015665.6(AAAS):c.1264_1273del (p.Gln422fs)	Glucocorticoid deficiency with achalasia [RCV003340764]	pathogenic	12	53308110	53308119	Human	1	name
150546967	CV1313985	deletion	NM_015665.6(AAAS):c.1310_1311del (p.Pro437fs)	not provided [RCV003557735]	pathogenic	12	53308072	53308073	Human		name
152982569	CV1677497	duplication	NM_015665.6(AAAS):c.1357_1358dup (p.Gln454fs)	Glucocorticoid deficiency with achalasia [RCV002249206]	pathogenic	12	53307902	53307903	Human	1	name
11560159	CV260027	microsatellite	NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs)	Glucocorticoid deficiency with achalasia [RCV000778369]\|not provided [RCV000255826]	pathogenic\|likely pathogenic	12	53308469	53308472	Human		name
11559921	CV260028	deletion	NM_015665.6(AAAS):c.1066_1067del (p.Leu356fs)	AAAS-related disorder [RCV004748681]\|not provided [RCV000255286]	pathogenic	12	53308745	53308746	Human	1	name , trait , alternate_id
404984211	CV2986769	deletion	NM_015665.6(AAAS):c.1147_1151del (p.Glu383fs)	not provided [RCV003691631]	pathogenic	12	53308465	53308469	Human		name
405165813	CV3022526	deletion	NM_015665.6(AAAS):c.1157_1160del (p.Ile386fs)	not provided [RCV003704207]	pathogenic	12	53308456	53308459	Human		name
405041824	CV3153918	deletion	NM_015665.6(AAAS):c.1117_1118del (p.Lys373fs)	not provided [RCV003848786]	pathogenic	12	53308498	53308499	Human		name
597725871	CV3710501	deletion	NM_015665.6(AAAS):c.1473_1482del (p.Phe491fs)	Glucocorticoid deficiency with achalasia [RCV005011397]	likely pathogenic	12	53307648	53307657	Human	1	name
597725895	CV3710503	deletion	NM_015665.6(AAAS):c.1068_1071del (p.Ser357fs)	Glucocorticoid deficiency with achalasia [RCV005011400]	likely pathogenic	12	53308741	53308744	Human	1	name
401867269	CV2748812	duplication	NM_015665.6(AAAS):c.1639dup (p.Ter547LeuextTer?)	not specified [RCV003331634]	uncertain significance	12	53307490	53307491	Human		name
156290238	CV1886834	indel	NM_015665.6(AAAS):c.855_856delinsTT (p.Arg286Ter)	not provided [RCV003087454]	pathogenic	12	53309236	53309237	Human		name
11559742	CV260031	deletion	NM_015665.6(AAAS):c.57_58del (p.Tyr19_Glu20delinsTer)	Glucocorticoid deficiency with achalasia [RCV005008222]\|not provided [RCV000254866]	pathogenic	12	53321408	53321409	Human	1	name
151768961	CV1450883	deletion	NM_015665.6(AAAS):c.878_886del (p.Leu293_Ser296delinsPro)	not provided [RCV001929330]	uncertain significance	12	53309206	53309214	Human		name
597725902	CV3710504	indel	NM_015665.6(AAAS):c.899_901delinsTCT (p.Ser300_Lys301delinsIleTer)	Glucocorticoid deficiency with achalasia [RCV005011401]	pathogenic	12	53309191	53309193	Human		name

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