aicda Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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270 records found for search term aicda

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
156401189	CV2186225	single nucleotide variant	NM_020661.4(AICDA):c.9-9C>T	Hyper-IgM syndrome type 2 [RCV003052323]	likely benign	12	8607021	8607021	Human	1	name
405093696	CV3001374	single nucleotide variant	NM_020661.4(AICDA):c.8+1G>C	Hyper-IgM syndrome type 2 [RCV003613946]	likely pathogenic	12	8612759	8612759	Human	1	name
11612574	CV326755	single nucleotide variant	NM_020661.4(AICDA):c.*67C>T	Hyper-IgM syndrome type 2 [RCV000260180]	uncertain significance	12	8604217	8604217	Human	1	name
11623669	CV334628	single nucleotide variant	NM_020661.4(AICDA):c.*89A>C	Hyper-IgM syndrome type 2 [RCV000375584]\|not provided [RCV001612986]\|not specified [RCV003488522]	benign	12	8604195	8604195	Human	1	name
11665396	CV353258	single nucleotide variant	NM_020661.4(AICDA):c.-84A>G	Hyper-IgM syndrome type 2 [RCV001548988]\|Hyperimmunoglobulin M syndrome [RCV001844156]\|not provided [RCV001683464]\|not specified [RCV003488576]	benign	12	8612851	8612851	Human	2	name
28911447	CV870487	single nucleotide variant	NM_020661.4(AICDA):c.*38T>G	Hyper-IgM syndrome type 2 [RCV001110564]	uncertain significance	12	8604246	8604246	Human	1	name
28911448	CV870488	single nucleotide variant	NM_020661.4(AICDA):c.*38T>C	Hyper-IgM syndrome type 2 [RCV001110565]	benign	12	8604246	8604246	Human	1	name
28871067	CV872294	single nucleotide variant	NM_020661.4(AICDA):c.-87A>T	Hyper-IgM syndrome type 2 [RCV001113880]	uncertain significance	12	8612854	8612854	Human	1	name
8654586	CV132550	single nucleotide variant	NM_020661.4(AICDA):c.*446G>A	Hyper-IgM syndrome type 2 [RCV000305686]\|not provided [RCV000114903]	uncertain significance\|not provided	12	8603838	8603838	Human	1	name
151786030	CV1504387	single nucleotide variant	NM_020661.4(AICDA):c.8+20G>A	Hyper-IgM syndrome type 2 [RCV001951551]	likely benign	12	8612740	8612740	Human	1	name
152096921	CV1599824	single nucleotide variant	NM_020661.4(AICDA):c.8+20G>C	Hyper-IgM syndrome type 2 [RCV002151316]	likely benign	12	8612740	8612740	Human	1	name
152168491	CV1644318	single nucleotide variant	NM_020661.4(AICDA):c.8+14C>T	Hyper-IgM syndrome type 2 [RCV002182462]	likely benign	12	8612746	8612746	Human	1	name
156118992	CV2081561	single nucleotide variant	NM_020661.4(AICDA):c.8+12G>T	Hyper-IgM syndrome type 2 [RCV002889483]	likely benign	12	8612748	8612748	Human	1	name
402479062	CV2881829	single nucleotide variant	NM_020661.4(AICDA):c.8+19C>T	Hyper-IgM syndrome type 2 [RCV003506250]	likely benign	12	8612741	8612741	Human	1	name
11607720	CV318536	single nucleotide variant	NM_020661.4(AICDA):c.*718C>A	Hyper-IgM syndrome type 2 [RCV000346776]	benign\|likely benign	12	8603566	8603566	Human	1	name
11609146	CV318537	single nucleotide variant	NM_020661.4(AICDA):c.*556T>G	Hyper-IgM syndrome type 2 [RCV000364276]	uncertain significance	12	8603728	8603728	Human	1	name
11645824	CV318552	single nucleotide variant	NM_020661.4(AICDA):c.*554T>C	Hyper-IgM syndrome type 2 [RCV000267395]	uncertain significance	12	8603730	8603730	Human	1	name
11645522	CV318553	single nucleotide variant	NM_020661.4(AICDA):c.*288C>T	Hyper-IgM syndrome type 2 [RCV000265817]	uncertain significance	12	8603996	8603996	Human	1	name
11653781	CV326740	single nucleotide variant	NM_020661.4(AICDA):c.*804A>T	Hyper-IgM syndrome type 2 [RCV000313025]	uncertain significance	12	8603480	8603480	Human	1	name
11622260	CV326751	single nucleotide variant	NM_020661.4(AICDA):c.*309T>C	Hyper-IgM syndrome type 2 [RCV000358100]\|not provided [RCV001538145]	benign	12	8603975	8603975	Human	1	name
11664670	CV332934	single nucleotide variant	NM_020661.4(AICDA):c.*837A>G	Hyper-IgM syndrome type 2 [RCV000407846]	uncertain significance	12	8603447	8603447	Human	1	name
11664666	CV332939	single nucleotide variant	NM_020661.4(AICDA):c.*670A>T	Hyper-IgM syndrome type 2 [RCV000407817]	uncertain significance	12	8603614	8603614	Human	1	name
11617754	CV332941	single nucleotide variant	NM_020661.4(AICDA):c.*625T>C	Hyper-IgM syndrome type 2 [RCV000307376]	uncertain significance	12	8603659	8603659	Human	1	name
11621836	CV334625	single nucleotide variant	NM_020661.4(AICDA):c.*958A>G	Hyper-IgM syndrome type 2 [RCV000352729]	likely benign\|uncertain significance	12	8603326	8603326	Human	1	name
11618884	CV334626	single nucleotide variant	NM_020661.4(AICDA):c.*235C>G	Hyper-IgM syndrome type 2 [RCV000318639]	uncertain significance	12	8604049	8604049	Human	1	name
597959730	CV3797631	single nucleotide variant	NM_020661.4(AICDA):c.8+20G>T	Hyper-IgM syndrome type 2 [RCV005138318]	likely benign	12	8612740	8612740	Human	1	name
597965281	CV3827624	single nucleotide variant	NM_020661.4(AICDA):c.9-16C>G	Hyper-IgM syndrome type 2 [RCV005164879]	likely benign	12	8607028	8607028	Human	1	name
28870914	CV870485	single nucleotide variant	NM_020661.4(AICDA):c.*771T>A	Hyper-IgM syndrome type 2 [RCV001113798]	uncertain significance	12	8603513	8603513	Human	1	name
28911004	CV870486	single nucleotide variant	NM_020661.4(AICDA):c.*470C>G	Hyper-IgM syndrome type 2 [RCV001109773]	likely benign	12	8603814	8603814	Human	1	name
127282692	CV1079669	deletion	NM_020661.4(AICDA):c.428-5del	Hyper-IgM syndrome type 2 [RCV001411289]	likely benign	12	8604927	8604927	Human	1	name
127258908	CV1101437	single nucleotide variant	NM_020661.4(AICDA):c.427+8A>G	Hyper-IgM syndrome type 2 [RCV001438257]	likely benign	12	8605207	8605207	Human	1	name
150334717	CV1166070	single nucleotide variant	NM_020661.4(AICDA):c.428-4G>T	not provided [RCV001531143]	likely benign	12	8604926	8604926	Human		name
150416811	CV1198430	single nucleotide variant	NM_020661.4(AICDA):c.8+129T>C	not provided [RCV001576038]	likely benign	12	8612631	8612631	Human		name
150502962	CV1212366	single nucleotide variant	NM_020661.4(AICDA):c.9-328G>A	not provided [RCV001595240]	benign	12	8607340	8607340	Human		name
8654585	CV132549	single nucleotide variant	NM_020661.4(AICDA):c.*1934C>T	Hyper-IgM syndrome type 2 [RCV000353379]\|not provided [RCV000114902]	likely benign\|uncertain significance\|not provided	12	8602350	8602350	Human	1	name
151755342	CV1387757	single nucleotide variant	NM_020661.4(AICDA):c.544-2A>G	Hyper-IgM syndrome type 2 [RCV001969612]	likely pathogenic	12	8604339	8604339	Human	1	name
151842283	CV1423935	single nucleotide variant	NM_020661.4(AICDA):c.427+6A>C	AICDA-related disorder [RCV003911138]\|Hyper-IgM syndrome type 2 [RCV001977844]	likely benign\|uncertain significance	12	8605209	8605209	Human	1	name , trait , alternate_id
156343015	CV1981626	single nucleotide variant	NM_020661.4(AICDA):c.427+1G>A	Hyper-IgM syndrome type 2 [RCV002631527]	likely pathogenic	12	8605214	8605214	Human	1	name
405105088	CV2948243	single nucleotide variant	NM_020661.4(AICDA):c.544-4A>G	Hyper-IgM syndrome type 2 [RCV003614309]	likely benign	12	8604341	8604341	Human	1	name
405108974	CV3051697	single nucleotide variant	NM_020661.4(AICDA):c.157-5T>C	Hyper-IgM syndrome type 2 [RCV003615176]	likely benign	12	8605490	8605490	Human	1	name
11610234	CV318530	single nucleotide variant	NM_020661.4(AICDA):c.*1173C>T	Hyper-IgM syndrome type 2 [RCV000378626]	uncertain significance	12	8603111	8603111	Human	1	name
11605509	CV318531	single nucleotide variant	NM_020661.4(AICDA):c.*1137A>G	Hyper-IgM syndrome type 2 [RCV000320417]	uncertain significance	12	8603147	8603147	Human	1	name
11648193	CV318532	single nucleotide variant	NM_020661.4(AICDA):c.*1106A>G	Hyper-IgM syndrome type 2 [RCV000280430]	uncertain significance	12	8603178	8603178	Human	1	name
11618409	CV326720	single nucleotide variant	NM_020661.4(AICDA):c.*1666G>T	Hyper-IgM syndrome type 2 [RCV000313829]\|not provided [RCV004708303]	benign\|likely benign	12	8602618	8602618	Human	1	name
11623126	CV326736	single nucleotide variant	NM_020661.4(AICDA):c.*1662C>A	Hyper-IgM syndrome type 2 [RCV000368627]	likely benign\|uncertain significance	12	8602622	8602622	Human	1	name
11623810	CV326737	single nucleotide variant	NM_020661.4(AICDA):c.*1136A>G	Hyper-IgM syndrome type 2 [RCV000377398]\|not provided [RCV004693135]	uncertain significance	12	8603148	8603148	Human	1	name
11620531	CV326738	single nucleotide variant	NM_020661.4(AICDA):c.*1089C>T	Hyper-IgM syndrome type 2 [RCV000337786]	benign\|uncertain significance	12	8603195	8603195	Human	1	name
11619760	CV332928	single nucleotide variant	NM_020661.4(AICDA):c.*1297G>A	Hyper-IgM syndrome type 2 [RCV000329101]\|not provided [RCV004708304]	benign\|likely benign	12	8602987	8602987	Human	1	name
11613539	CV332930	single nucleotide variant	NM_020661.4(AICDA):c.*1213A>G	Hyper-IgM syndrome type 2 [RCV000268999]	uncertain significance	12	8603071	8603071	Human	1	name
11614715	CV332932	single nucleotide variant	NM_020661.4(AICDA):c.*1028C>T	Hyper-IgM syndrome type 2 [RCV000279342]\|not provided [RCV004707046]	benign	12	8603256	8603256	Human	1	name
11624795	CV334605	single nucleotide variant	NM_020661.4(AICDA):c.*1694A>G	Hyper-IgM syndrome type 2 [RCV000390610]\|not provided [RCV004707045]	benign\|likely benign	12	8602590	8602590	Human	1	name
11660217	CV334606	single nucleotide variant	NM_020661.4(AICDA):c.*1262C>T	Hyper-IgM syndrome type 2 [RCV000365179]	uncertain significance	12	8603022	8603022	Human	1	name
11619526	CV334613	single nucleotide variant	NM_020661.4(AICDA):c.*1206C>T	Hyper-IgM syndrome type 2 [RCV000326372]\|not provided [RCV004708305]	benign\|likely benign	12	8603078	8603078	Human	1	name
11615491	CV334621	single nucleotide variant	NM_020661.4(AICDA):c.*1139A>G	Hyper-IgM syndrome type 2 [RCV000286540]	likely benign\|uncertain significance	12	8603145	8603145	Human	1	name
11660936	CV334623	single nucleotide variant	NM_020661.4(AICDA):c.*1083T>C	Hyper-IgM syndrome type 2 [RCV000371534]	uncertain significance	12	8603201	8603201	Human	1	name
11624503	CV334629	single nucleotide variant	NM_020661.4(AICDA):c.427+4C>T	Hyper-IgM syndrome type 2 [RCV000639381]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	8605211	8605211	Human	1	name
597956993	CV3800388	deletion	NM_020661.4(AICDA):c.4_8+3del	Hyper-IgM syndrome type 2 [RCV005137480]	likely pathogenic	12	8612757	8612764	Human	1	name
21074198	CV796867	single nucleotide variant	NM_020661.4(AICDA):c.428-1G>T	not provided [RCV000994846]	likely pathogenic	12	8604923	8604923	Human		name
28910954	CV870473	single nucleotide variant	NM_020661.4(AICDA):c.*1802T>C	Hyper-IgM syndrome type 2 [RCV001109697]	uncertain significance	12	8602482	8602482	Human	1	name
28910955	CV870474	single nucleotide variant	NM_020661.4(AICDA):c.*1704C>T	Hyper-IgM syndrome type 2 [RCV001109698]	likely benign	12	8602580	8602580	Human	1	name
28910956	CV870475	single nucleotide variant	NM_020661.4(AICDA):c.*1684T>C	Hyper-IgM syndrome type 2 [RCV001109699]	uncertain significance	12	8602600	8602600	Human	1	name
28910957	CV870476	single nucleotide variant	NM_020661.4(AICDA):c.*1455G>A	Hyper-IgM syndrome type 2 [RCV001109700]	uncertain significance	12	8602829	8602829	Human	1	name
28867698	CV870477	single nucleotide variant	NM_020661.4(AICDA):c.*1453A>G	Hyper-IgM syndrome type 2 [RCV001111997]	uncertain significance	12	8602831	8602831	Human	1	name
28867701	CV870478	single nucleotide variant	NM_020661.4(AICDA):c.*1380A>G	Hyper-IgM syndrome type 2 [RCV001111998]	uncertain significance	12	8602904	8602904	Human	1	name
28867703	CV870479	single nucleotide variant	NM_020661.4(AICDA):c.*1313G>C	Hyper-IgM syndrome type 2 [RCV001111999]	uncertain significance	12	8602971	8602971	Human	1	name
28867707	CV870480	single nucleotide variant	NM_020661.4(AICDA):c.*1296C>T	Hyper-IgM syndrome type 2 [RCV001112000]	uncertain significance	12	8602988	8602988	Human	1	name
28867710	CV870481	single nucleotide variant	NM_020661.4(AICDA):c.*1226A>C	Hyper-IgM syndrome type 2 [RCV001112001]	uncertain significance	12	8603058	8603058	Human	1	name
28868417	CV870482	single nucleotide variant	NM_020661.4(AICDA):c.*1138A>G	Hyper-IgM syndrome type 2 [RCV001112450]	uncertain significance	12	8603146	8603146	Human	1	name
28870907	CV870483	single nucleotide variant	NM_020661.4(AICDA):c.*1025G>A	Hyper-IgM syndrome type 2 [RCV001113796]	uncertain significance	12	8603259	8603259	Human	1	name
28870910	CV870484	single nucleotide variant	NM_020661.4(AICDA):c.*1010C>T	Hyper-IgM syndrome type 2 [RCV001113797]	uncertain significance	12	8603274	8603274	Human	1	name
126748907	CV995383	single nucleotide variant	NM_020661.4(AICDA):c.544-3C>T	Hyper-IgM syndrome type 2 [RCV001297029]	uncertain significance	12	8604340	8604340	Human	1	name
127239684	CV1101436	single nucleotide variant	NM_020661.4(AICDA):c.427+18G>A	Hyper-IgM syndrome type 2 [RCV001423168]	likely benign	12	8605197	8605197	Human	1	name
127305508	CV1157055	single nucleotide variant	NM_020661.4(AICDA):c.428-18C>T	AICDA-related disorder [RCV003948527]\|Hyper-IgM syndrome type 2 [RCV001516313]	benign\|likely benign	12	8604940	8604940	Human	1	name , trait , alternate_id
152044719	CV1588642	single nucleotide variant	NM_020661.4(AICDA):c.156+15C>T	Hyper-IgM syndrome type 2 [RCV002188698]	likely benign	12	8606850	8606850	Human	1	name
152117871	CV1594814	duplication	NM_020661.4(AICDA):c.428-18dup	Hyper-IgM syndrome type 2 [RCV002197642]	likely benign	12	8604939	8604940	Human	1	name
152146733	CV1600075	single nucleotide variant	NM_020661.4(AICDA):c.428-19C>T	Hyper-IgM syndrome type 2 [RCV002138907]	likely benign	12	8604941	8604941	Human	1	name
152157340	CV1630528	single nucleotide variant	NM_020661.4(AICDA):c.156+11A>C	Hyper-IgM syndrome type 2 [RCV002122597]	likely benign	12	8606854	8606854	Human	1	name
152107142	CV1639137	single nucleotide variant	NM_020661.4(AICDA):c.157-18T>C	Hyper-IgM syndrome type 2 [RCV002152557]	likely benign	12	8605503	8605503	Human	1	name
156014927	CV2038709	single nucleotide variant	NM_020661.4(AICDA):c.157-19G>A	Hyper-IgM syndrome type 2 [RCV002780348]	likely benign	12	8605504	8605504	Human	1	name
11549855	CV254730	single nucleotide variant	NM_020661.4(AICDA):c.156+16G>A	Hyper-IgM syndrome type 2 [RCV000605400]\|not provided [RCV001683098]\|not specified [RCV000250956]	benign	12	8606849	8606849	Human	1	name
405092938	CV2979979	single nucleotide variant	NM_020661.4(AICDA):c.427+11G>A	Hyper-IgM syndrome type 2 [RCV003613883]	likely benign	12	8605204	8605204	Human	1	name
405109018	CV3045077	single nucleotide variant	NM_020661.4(AICDA):c.157-11T>C	Hyper-IgM syndrome type 2 [RCV003615185]	likely benign	12	8605496	8605496	Human	1	name
405108945	CV3054816	single nucleotide variant	NM_020661.4(AICDA):c.427+19C>T	Hyper-IgM syndrome type 2 [RCV003615170]	likely benign	12	8605196	8605196	Human	1	name
11635022	CV326756	duplication	NM_020661.4(AICDA):c.428-17dup	Hyper-IgM syndrome type 2 [RCV000947417]\|Hyperimmunoglobulin M syndrome [RCV001844123]\|not provided [RCV001612987]\|not specified [RCV000454750]	benign	12	8604926	8604927	Human	2	name
597942911	CV3757894	single nucleotide variant	NM_020661.4(AICDA):c.157-17C>T	Hyper-IgM syndrome type 2 [RCV005077893]	likely benign	12	8605502	8605502	Human	1	name
597938820	CV3760163	single nucleotide variant	NM_020661.4(AICDA):c.427+13C>T	Hyper-IgM syndrome type 2 [RCV005077087]	likely benign	12	8605202	8605202	Human	1	name
597912159	CV3850634	single nucleotide variant	NM_020661.4(AICDA):c.157-10G>A	Hyper-IgM syndrome type 2 [RCV005203782]	likely benign	12	8605495	8605495	Human	1	name
150437683	CV1201291	single nucleotide variant	NM_020661.4(AICDA):c.156+241G>A	not provided [RCV001583103]	likely benign	12	8606624	8606624	Human		name
150501951	CV1241088	deletion	NM_020661.4(AICDA):c.544-160del	not provided [RCV001656984]	benign	12	8604497	8604497	Human		name
150474005	CV1281668	single nucleotide variant	NM_020661.4(AICDA):c.543+110T>G	not provided [RCV001713623]	benign	12	8604697	8604697	Human		name
150535684	CV1311983	duplication	NM_020661.4(AICDA):c.544-160dup	not provided [RCV001779794]	likely benign	12	8604496	8604497	Human		name
156229625	CV2027961	microsatellite	NM_020661.4(AICDA):c.9-13_9-11del	Hyper-IgM syndrome type 2 [RCV002745256]	likely benign	12	8607023	8607025	Human		name
8654589	CV132553	single nucleotide variant	NM_020661.4(AICDA):c.24G>T (p.Arg8=)	not provided [RCV000114906]	not provided	12	8606997	8606997	Human		name
152029949	CV1568772	deletion	NM_020661.4(AICDA):c.428-10_428-5del	Hyper-IgM syndrome type 2 [RCV002186326]	likely benign	12	8604927	8604932	Human	1	name
152078800	CV1579754	single nucleotide variant	NM_020661.4(AICDA):c.13T>C (p.Leu5=)	Hyper-IgM syndrome type 2 [RCV002076093]	likely benign	12	8607008	8607008	Human	1	name
152162665	CV1606355	single nucleotide variant	NM_020661.4(AICDA):c.15G>A (p.Leu5=)	Hyper-IgM syndrome type 2 [RCV002181199]	likely benign	12	8607006	8607006	Human	1	name
156181717	CV2167590	single nucleotide variant	NM_020661.4(AICDA):c.27G>A (p.Arg9=)	Hyper-IgM syndrome type 2 [RCV003023847]	likely benign	12	8606994	8606994	Human	1	name
11614084	CV332924	insertion	NM_020661.4(AICDA):c.1453_1454insG	Hyperimmunoglobulin M syndrome [RCV001844121]	uncertain significance	12	8602830	8602831	Human	1	name
11624646	CV332948	insertion	NM_020661.4(AICDA):c.428-4_428-3insT	Hyperimmunoglobulin M syndrome [RCV001844122]	uncertain significance	12	8604925	8604926	Human	1	name
598226134	CV3894344	deletion	NM_020661.4(AICDA):c.428-13_428-5del	not provided [RCV005257587]	likely benign	12	8604927	8604935	Human		name
127329524	CV1122921	single nucleotide variant	NM_020661.4(AICDA):c.93C>T (p.Tyr31=)	Hyper-IgM syndrome type 2 [RCV001470282]	likely benign	12	8606928	8606928	Human	1	name
152050731	CV1626461	insertion	NM_020661.4(AICDA):c.428-9_428-8insTC	Hyper-IgM syndrome type 2 [RCV002189382]	likely benign	12	8604930	8604931	Human	1	name
156340800	CV1994162	single nucleotide variant	NM_020661.4(AICDA):c.75T>C (p.Arg25=)	Hyper-IgM syndrome type 2 [RCV002650306]	likely benign	12	8606946	8606946	Human	1	name
11597176	CV266805	single nucleotide variant	NM_020661.4(AICDA):c.48A>G (p.Lys16=)	Hyper-IgM syndrome type 2 [RCV001085627]\|not provided [RCV000321345]\|not specified [RCV001201224]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	8606973	8606973	Human	1	name
405090959	CV2977361	single nucleotide variant	NM_020661.4(AICDA):c.81C>T (p.Thr27=)	Hyper-IgM syndrome type 2 [RCV003613726]	likely benign	12	8606940	8606940	Human	1	name
11635465	CV332949	duplication	NM_020661.4(AICDA):c.428-17_428-16dup	Hyper-IgM syndrome type 2 [RCV000960058]\|Hyperimmunoglobulin M syndrome [RCV001844124]\|not provided [RCV001548092]	benign\|likely benign\|uncertain significance	12	8604926	8604927	Human	2	name
596927929	CV3541293	deletion	NM_020661.4(AICDA):c.22del (p.Arg8fs)	Hyper-IgM syndrome type 2 [RCV004797164]	likely pathogenic	12	8606999	8606999	Human	1	name
597898403	CV3770688	deletion	NM_020661.4(AICDA):c.156+11_156+12del	Hyper-IgM syndrome type 2 [RCV005111839]	likely benign	12	8606853	8606854	Human	1	name
126757250	CV1031138	single nucleotide variant	NM_020661.4(AICDA):c.189C>G (p.Arg63=)	AICDA-related disorder [RCV003898323]\|Hyper-IgM syndrome type 2 [RCV001339517]	likely benign\|uncertain significance	12	8605453	8605453	Human	1	name , trait , alternate_id
126918634	CV1048130	single nucleotide variant	NM_020661.4(AICDA):c.21C>A (p.Asn7Lys)	Hyper-IgM syndrome type 2 [RCV001372775]	uncertain significance	12	8607000	8607000	Human	1	name
127282381	CV1079670	single nucleotide variant	NM_020661.4(AICDA):c.276A>G (p.Arg92=)	Hyper-IgM syndrome type 2 [RCV001411089]	likely benign	12	8605366	8605366	Human	1	name
127327924	CV1122920	single nucleotide variant	NM_020661.4(AICDA):c.195C>T (p.Ile65=)	AICDA-related disorder [RCV004731155]\|Hyper-IgM syndrome type 2 [RCV001469328]	likely benign	12	8605447	8605447	Human	1	name , trait , alternate_id
8654588	CV132552	single nucleotide variant	NM_020661.4(AICDA):c.210A>G (p.Leu70=)	Hyper-IgM syndrome type 2 [RCV001083837]\|not provided [RCV000114905]	benign\|likely benign\|not provided	12	8605432	8605432	Human	2	name
8654588	CV132552	single nucleotide variant	NM_020661.4(AICDA):c.210A>G (p.Leu70=)	Hyper-IgM syndrome type 2 [RCV001083837]\|not provided [RCV000114905]	benign\|likely benign\|not provided	12	8605432	8605433	Human	2	name
151854777	CV1466073	single nucleotide variant	NM_020661.4(AICDA):c.23G>A (p.Arg8Gln)	Hyper-IgM syndrome type 2 [RCV001883196]	uncertain significance	12	8606998	8606998	Human	1	name
152131481	CV1650698	single nucleotide variant	NM_020661.4(AICDA):c.150C>A (p.Arg50=)	Hyper-IgM syndrome type 2 [RCV002176856]	likely benign	12	8606871	8606871	Human	1	name
156435857	CV1937187	single nucleotide variant	NM_020661.4(AICDA):c.274C>A (p.Arg92=)	Hyper-IgM syndrome type 2 [RCV003105055]	likely benign	12	8605368	8605368	Human	1	name
156312671	CV2031675	single nucleotide variant	NM_020661.4(AICDA):c.175T>C (p.Leu59=)	Hyper-IgM syndrome type 2 [RCV002716627]	likely benign	12	8605467	8605467	Human	1	name
156024121	CV2079383	single nucleotide variant	NM_020661.4(AICDA):c.135C>T (p.Asp45=)	Hyper-IgM syndrome type 2 [RCV002885095]	likely benign	12	8606886	8606886	Human	1	name
155921265	CV2276276	single nucleotide variant	NM_020661.4(AICDA):c.13T>A (p.Leu5Met)	Inborn genetic diseases [RCV002859699]	uncertain significance	12	8607008	8607008	Human	1	name
405105603	CV2957915	single nucleotide variant	NM_020661.4(AICDA):c.258C>G (p.Pro86=)	Hyper-IgM syndrome type 2 [RCV003614422]	likely benign	12	8605384	8605384	Human	1	name
405105656	CV2961226	single nucleotide variant	NM_020661.4(AICDA):c.168C>T (p.His56=)	Hyper-IgM syndrome type 2 [RCV003614433]	likely benign	12	8605474	8605474	Human	1	name
405230599	CV3180892	single nucleotide variant	NM_020661.4(AICDA):c.231C>T (p.Arg77=)	Hyper-IgM syndrome type 2 [RCV003865130]	likely benign	12	8605411	8605411	Human	1	name
597904649	CV3738353	single nucleotide variant	NM_020661.4(AICDA):c.213C>T (p.Asp71=)	Hyper-IgM syndrome type 2 [RCV005072775]	likely benign	12	8605429	8605429	Human	1	name
597971899	CV3833228	insertion	NM_020661.4(AICDA):c.428-13_428-12insC	Hyper-IgM syndrome type 2 [RCV005167125]	likely benign	12	8604934	8604935	Human	1	name
597937731	CV3862764	indel	NM_020661.4(AICDA):c.9-12_9-11delinsAA	Hyper-IgM syndrome type 2 [RCV005208036]	uncertain significance	12	8607023	8607024	Human		name
13472875	CV462499	single nucleotide variant	NM_020661.4(AICDA):c.267C>T (p.Asp89=)	Hyper-IgM syndrome type 2 [RCV000547542]\|not provided [RCV004707324]\|not specified [RCV004782433]	benign	12	8605375	8605375	Human	1	name
38474659	CV926741	single nucleotide variant	NM_020661.4(AICDA):c.22C>T (p.Arg8Trp)	Hyper-IgM syndrome type 2 [RCV001214840]	uncertain significance	12	8606999	8606999	Human	1	name
127283292	CV1101435	single nucleotide variant	NM_020661.4(AICDA):c.483C>T (p.Ala161=)	Hyper-IgM syndrome type 2 [RCV001448452]	likely benign	12	8604867	8604867	Human	1	name
127308061	CV1122918	single nucleotide variant	NM_020661.4(AICDA):c.549G>T (p.Leu183=)	Hyper-IgM syndrome type 2 [RCV001463227]	likely benign	12	8604332	8604332	Human	1	name
127313358	CV1122919	single nucleotide variant	NM_020661.4(AICDA):c.336C>T (p.Arg112=)	Hyper-IgM syndrome type 2 [RCV001457440]	likely benign	12	8605306	8605306	Human	1	name
127325019	CV1143777	single nucleotide variant	NM_020661.4(AICDA):c.456A>G (p.Val152=)	Hyper-IgM syndrome type 2 [RCV001485658]	likely benign	12	8604894	8604894	Human	1	name
150479223	CV1258220	deletion	NM_020661.4(AICDA):c.544-164_544-160del	not provided [RCV001685636]	benign	12	8604497	8604501	Human		name
150476529	CV1263656	deletion	NM_020661.4(AICDA):c.544-161_544-160del	not provided [RCV001685179]	benign	12	8604497	8604498	Human		name
8654587	CV132551	single nucleotide variant	NM_020661.4(AICDA):c.405A>G (p.Gln135=)	Hyper-IgM syndrome type 2 [RCV001040392]\|not provided [RCV000114904]	likely benign\|uncertain significance\|not provided	12	8605237	8605237	Human	1	name
151806317	CV1462540	single nucleotide variant	NM_020661.4(AICDA):c.82T>C (p.Tyr28His)	Hyper-IgM syndrome type 2 [RCV001991407]	uncertain significance	12	8606939	8606939	Human	1	name
151816080	CV1475885	single nucleotide variant	NM_020661.4(AICDA):c.43T>C (p.Phe15Leu)	Hyper-IgM syndrome type 2 [RCV001992299]	uncertain significance	12	8606978	8606978	Human	1	name
152154687	CV1556491	single nucleotide variant	NM_020661.4(AICDA):c.399G>C (p.Gly133=)	Hyper-IgM syndrome type 2 [RCV002122250]	likely benign	12	8605243	8605243	Human	1	name
152027394	CV1562829	insertion	NM_020661.4(AICDA):c.428-18_428-17insCT	Hyper-IgM syndrome type 2 [RCV002104877]	likely benign	12	8604939	8604940	Human	1	name
152084093	CV1569632	single nucleotide variant	NM_020661.4(AICDA):c.468A>G (p.Glu156=)	Hyper-IgM syndrome type 2 [RCV002113152]	likely benign	12	8604882	8604882	Human	1	name
152087836	CV1638790	single nucleotide variant	NM_020661.4(AICDA):c.576A>C (p.Ala192=)	Hyper-IgM syndrome type 2 [RCV002150184]	likely benign	12	8604305	8604305	Human	1	name
152979571	CV1675636	single nucleotide variant	NM_020661.4(AICDA):c.45C>G (p.Phe15Leu)	Hyper-IgM syndrome type 2 [RCV002244226]	likely pathogenic	12	8606976	8606976	Human	1	name
156066866	CV1874424	single nucleotide variant	NM_020661.4(AICDA):c.93C>A (p.Tyr31Ter)	Hyper-IgM syndrome type 2 [RCV003037444]	pathogenic	12	8606928	8606928	Human	1	name
156372646	CV1878491	single nucleotide variant	NM_020661.4(AICDA):c.375G>T (p.Gly125=)	Hyper-IgM syndrome type 2 [RCV003066430]	likely benign	12	8605267	8605267	Human	1	name
8596706	CV20161	single nucleotide variant	NM_020661.4(AICDA):c.70C>T (p.Arg24Trp)	Hyper-IgM syndrome type 2 [RCV000005429]	pathogenic	12	8606951	8606951	Human	1	name
156004492	CV2045830	single nucleotide variant	NM_020661.4(AICDA):c.94G>A (p.Val32Ile)	Hyper-IgM syndrome type 2 [RCV002794783]	uncertain significance	12	8606927	8606927	Human	1	name
11543799	CV254729	single nucleotide variant	NM_020661.4(AICDA):c.465C>T (p.His155=)	Hyper-IgM syndrome type 2 [RCV000600518]\|not provided [RCV001711828]\|not specified [RCV000242942]	benign	12	8604885	8604885	Human	1	name
402479340	CV2885717	single nucleotide variant	NM_020661.4(AICDA):c.73C>T (p.Arg25Cys)	Hyper-IgM syndrome type 2 [RCV003506282]	uncertain significance	12	8606948	8606948	Human	1	name
405108912	CV3047691	single nucleotide variant	NM_020661.4(AICDA):c.348T>C (p.Cys116=)	Hyper-IgM syndrome type 2 [RCV003615163]	likely benign	12	8605294	8605294	Human	1	name
405109245	CV3066888	single nucleotide variant	NM_020661.4(AICDA):c.333G>A (p.Ala111=)	Hyper-IgM syndrome type 2 [RCV003615231]	likely benign	12	8605309	8605309	Human	1	name
405124622	CV3136447	single nucleotide variant	NM_020661.4(AICDA):c.573C>T (p.Asp191=)	Hyper-IgM syndrome type 2 [RCV003837777]	likely benign	12	8604308	8604308	Human	1	name
404989056	CV3179936	single nucleotide variant	NM_020661.4(AICDA):c.402G>A (p.Val134=)	Hyper-IgM syndrome type 2 [RCV003881414]	likely benign	12	8605240	8605240	Human	1	name
11617771	CV334635	single nucleotide variant	NM_020661.4(AICDA):c.29A>G (p.Lys10Arg)	Hyper-IgM syndrome type 2 [RCV000307490]	uncertain significance	12	8606992	8606992	Human	1	name
12743071	CV361315	single nucleotide variant	NM_020661.4(AICDA):c.92A>G (p.Tyr31Cys)	not provided [RCV000415972]	likely pathogenic	12	8606929	8606929	Human		name
597921411	CV3777353	single nucleotide variant	NM_020661.4(AICDA):c.570A>T (p.Arg190=)	Hyper-IgM syndrome type 2 [RCV005130282]	likely benign	12	8604311	8604311	Human	1	name
597969149	CV3791219	single nucleotide variant	NM_020661.4(AICDA):c.363T>G (p.Ala121=)	Hyper-IgM syndrome type 2 [RCV005141251]	likely benign	12	8605279	8605279	Human	1	name
597920015	CV3842544	single nucleotide variant	NM_020661.4(AICDA):c.300G>C (p.Gly100=)	Hyper-IgM syndrome type 2 [RCV005184029]	likely benign	12	8605342	8605342	Human	1	name
597966421	CV3859104	single nucleotide variant	NM_020661.4(AICDA):c.80C>T (p.Thr27Ile)	Hyper-IgM syndrome type 2 [RCV005194499]	uncertain significance	12	8606941	8606941	Human	1	name
13500674	CV463236	single nucleotide variant	NM_020661.4(AICDA):c.379C>A (p.Arg127=)	Hyper-IgM syndrome type 2 [RCV000540567]	likely benign	12	8605263	8605263	Human	1	name
13521660	CV487616	single nucleotide variant	NM_020661.4(AICDA):c.585T>C (p.Thr195=)	Hyper-IgM syndrome type 2 [RCV001083440]\|not provided [RCV000589690]	benign	12	8604296	8604296	Human	1	name
13607320	CV527907	single nucleotide variant	NM_020661.4(AICDA):c.74G>A (p.Arg25His)	Hyper-IgM syndrome type 2 [RCV000639379]\|not provided [RCV004707389]	benign\|likely benign	12	8606947	8606947	Human	1	name
15108684	CV713768	single nucleotide variant	NM_020661.4(AICDA):c.369C>T (p.Pro123=)	Hyper-IgM syndrome type 2 [RCV000960538]\|not provided [RCV004707506]	benign	12	8605273	8605273	Human	1	name
26903657	CV840306	single nucleotide variant	NM_020661.4(AICDA):c.71G>A (p.Arg24Gln)	Hyper-IgM syndrome type 2 [RCV001070577]	likely pathogenic\|uncertain significance	12	8606950	8606950	Human	1	name
28868538	CV870490	single nucleotide variant	NM_020661.4(AICDA):c.376C>T (p.Leu126=)	Hyper-IgM syndrome type 2 [RCV001112544]	conflicting interpretations of pathogenicity\|uncertain significance	12	8605266	8605266	Human	1	name
151845490	CV1341741	single nucleotide variant	NM_020661.4(AICDA):c.208C>G (p.Leu70Val)	Hyper-IgM syndrome type 2 [RCV001922056]	uncertain significance	12	8605434	8605434	Human	1	name
151716391	CV1345951	single nucleotide variant	NM_020661.4(AICDA):c.190T>C (p.Tyr64His)	Hyper-IgM syndrome type 2 [RCV001965291]	uncertain significance	12	8605452	8605452	Human	1	name
151854310	CV1372623	single nucleotide variant	NM_020661.4(AICDA):c.257C>T (p.Pro86Leu)	Hyper-IgM syndrome type 2 [RCV001996347]	uncertain significance	12	8605385	8605385	Human	1	name
151783779	CV1424597	single nucleotide variant	NM_020661.4(AICDA):c.106C>T (p.Arg36Cys)	Hyper-IgM syndrome type 2 [RCV001865201]	uncertain significance	12	8606915	8606915	Human	1	name
152078408	CV1666483	single nucleotide variant	NM_020661.4(AICDA):c.281T>C (p.Val94Ala)	Hyper-IgM syndrome type 2 [RCV002210918]	uncertain significance	12	8605361	8605361	Human	1	name
155692758	CV1779479	single nucleotide variant	NM_020661.4(AICDA):c.181T>C (p.Phe61Leu)	Hyper-IgM syndrome type 2 [RCV002295005]	uncertain significance	12	8605461	8605461	Human	1	name
156066839	CV1874423	single nucleotide variant	NM_020661.4(AICDA):c.293T>G (p.Leu98Arg)	Hyper-IgM syndrome type 2 [RCV003037443]	likely pathogenic\|uncertain significance	12	8605349	8605349	Human	1	name
156397920	CV1880833	insertion	NM_020661.4(AICDA):c.428-18_428-17insCTT	Hyper-IgM syndrome type 2 [RCV003068840]	likely benign	12	8604939	8604940	Human	1	name
10045086	CV188837	single nucleotide variant	NM_020661.4(AICDA):c.169G>A (p.Val57Met)	Hyper-IgM syndrome type 2 [RCV003987400]\|not provided [RCV000171206]	pathogenic\|likely pathogenic\|no classifications from unflagged records	12	8605473	8605473	Human	1	name
8596707	CV20162	single nucleotide variant	NM_020661.4(AICDA):c.203G>A (p.Trp68Ter)	Hyper-IgM syndrome type 2 [RCV000005430]\|not provided [RCV003389747]	pathogenic	12	8605439	8605439	Human	1	name
8596708	CV20163	single nucleotide variant	NM_020661.4(AICDA):c.238T>C (p.Trp80Arg)	Hyper-IgM syndrome type 2 [RCV000005431]	pathogenic\|uncertain significance	12	8605404	8605404	Human	1	name
8596713	CV20168	deletion	NM_020661.4(AICDA):c.22_40del (p.Arg8fs)	Hyper-IgM syndrome type 2 [RCV000005436]	pathogenic	12	8606981	8606999	Human	1	name
156094963	CV2114282	single nucleotide variant	NM_020661.4(AICDA):c.232G>C (p.Val78Leu)	Hyper-IgM syndrome type 2 [RCV002926822]	uncertain significance	12	8605410	8605410	Human	1	name
156380126	CV2117917	single nucleotide variant	NM_020661.4(AICDA):c.133G>A (p.Asp45Asn)	Hyper-IgM syndrome type 2 [RCV002943076]	uncertain significance	12	8606888	8606888	Human	1	name
156380204	CV2117921	single nucleotide variant	NM_020661.4(AICDA):c.128C>T (p.Ser43Leu)	Hyper-IgM syndrome type 2 [RCV002943081]	uncertain significance	12	8606893	8606893	Human	1	name
156394731	CV2141379	single nucleotide variant	NM_020661.4(AICDA):c.178C>T (p.Leu60Phe)	Hyper-IgM syndrome type 2 [RCV002944311]	uncertain significance	12	8605464	8605464	Human	1	name
156173372	CV2181291	single nucleotide variant	NM_020661.4(AICDA):c.201C>A (p.Asp67Glu)	Hyper-IgM syndrome type 2 [RCV003057290]	uncertain significance	12	8605441	8605441	Human	1	name
156276614	CV2185953	single nucleotide variant	NM_020661.4(AICDA):c.271G>A (p.Ala91Thr)	Hyper-IgM syndrome type 2 [RCV003044638]	uncertain significance	12	8605371	8605371	Human	1	name
404978190	CV2852348	single nucleotide variant	NM_020661.4(AICDA):c.295C>T (p.Arg99Ter)	Hyper-IgM syndrome type 2 [RCV003486494]	pathogenic	12	8605347	8605347	Human	1	name
405009044	CV2853188	single nucleotide variant	NM_020661.4(AICDA):c.218G>A (p.Gly73Asp)	not specified [RCV003494382]	uncertain significance	12	8605424	8605424	Human		name
402476936	CV2867196	single nucleotide variant	NM_020661.4(AICDA):c.289T>C (p.Phe97Leu)	Hyper-IgM syndrome type 2 [RCV003505903]	uncertain significance	12	8605353	8605353	Human	1	name
402472167	CV2909093	single nucleotide variant	NM_020661.4(AICDA):c.259T>G (p.Cys87Gly)	Hyper-IgM syndrome type 2 [RCV003504826]	uncertain significance	12	8605383	8605383	Human	1	name
405105935	CV2952378	single nucleotide variant	NM_020661.4(AICDA):c.220C>T (p.Arg74Cys)	Hyper-IgM syndrome type 2 [RCV003614493]	uncertain significance	12	8605422	8605422	Human	1	name
405108094	CV3020766	single nucleotide variant	NM_020661.4(AICDA):c.283G>A (p.Ala95Thr)	Hyper-IgM syndrome type 2 [RCV003614985]	uncertain significance	12	8605359	8605359	Human	1	name
405206585	CV3162002	single nucleotide variant	NM_020661.4(AICDA):c.284C>G (p.Ala95Gly)	Hyper-IgM syndrome type 2 [RCV003861496]\|Inborn genetic diseases [RCV004981109]	uncertain significance	12	8605358	8605358	Human	2	name
597960254	CV3756164	single nucleotide variant	NM_020661.4(AICDA):c.266A>T (p.Asp89Val)	Hyper-IgM syndrome type 2 [RCV005081481]	uncertain significance	12	8605376	8605376	Human	1	name
597851770	CV3758499	single nucleotide variant	NM_020661.4(AICDA):c.191A>G (p.Tyr64Cys)	Hyper-IgM syndrome type 2 [RCV005088058]	uncertain significance	12	8605451	8605451	Human	1	name
597894570	CV3773327	single nucleotide variant	NM_020661.4(AICDA):c.170T>C (p.Val57Ala)	Hyper-IgM syndrome type 2 [RCV005111234]	uncertain significance	12	8605472	8605472	Human	1	name
597968415	CV3795002	single nucleotide variant	NM_020661.4(AICDA):c.112A>G (p.Ser38Gly)	Hyper-IgM syndrome type 2 [RCV005140970]	uncertain significance	12	8606909	8606909	Human	1	name
597900265	CV3796536	single nucleotide variant	NM_020661.4(AICDA):c.160G>A (p.Gly54Ser)	Hyper-IgM syndrome type 2 [RCV005152619]	uncertain significance	12	8605482	8605482	Human	1	name
616938746	CV4015800	single nucleotide variant	NM_020661.4(AICDA):c.244A>G (p.Thr82Ala)	Hyper-IgM syndrome type 2 [RCV005414352]	uncertain significance	12	8605398	8605398	Human	1	name
8602665	CV44320	single nucleotide variant	NM_020661.4(AICDA):c.251G>A (p.Trp84Ter)	Hyper-IgM syndrome type 2 [RCV000029303]\|not provided [RCV000254713]	pathogenic\|likely pathogenic	12	8605391	8605391	Human	1	name
13474172	CV463240	single nucleotide variant	NM_020661.4(AICDA):c.284C>T (p.Ala95Val)	Hyper-IgM syndrome type 2 [RCV000525706]	uncertain significance	12	8605358	8605358	Human	1	name
13821429	CV568175	single nucleotide variant	NM_020661.4(AICDA):c.160G>C (p.Gly54Arg)	Hyper-IgM syndrome type 2 [RCV000695875]\|not provided [RCV001091143]	uncertain significance	12	8605482	8605482	Human	1	name
14393483	CV609861	single nucleotide variant	NM_020661.4(AICDA):c.259T>C (p.Cys87Arg)	Hyper-IgM syndrome type 2 [RCV001043961]\|not provided [RCV000755797]	pathogenic\|likely pathogenic	12	8605383	8605383	Human	1	name
14704510	CV641401	single nucleotide variant	NM_020661.4(AICDA):c.289T>G (p.Phe97Val)	Hyper-IgM syndrome type 2 [RCV000807783]	uncertain significance	12	8605353	8605353	Human	1	name
14731344	CV641402	single nucleotide variant	NM_020661.4(AICDA):c.148C>T (p.Arg50Cys)	Hyper-IgM syndrome type 2 [RCV000817790]\|Inborn genetic diseases [RCV003258992]	uncertain significance	12	8606873	8606873	Human	2	name
21072429	CV792789	single nucleotide variant	NM_020661.4(AICDA):c.274C>T (p.Arg92Ter)	Hyper-IgM syndrome type 2 [RCV000991445]	likely pathogenic	12	8605368	8605368	Human	1	name
26903159	CV840305	single nucleotide variant	NM_020661.4(AICDA):c.197C>T (p.Ser66Leu)	Hyper-IgM syndrome type 2 [RCV001068112]	uncertain significance	12	8605445	8605445	Human	1	name
38485113	CV936276	single nucleotide variant	NM_020661.4(AICDA):c.260G>C (p.Cys87Ser)	AICDA-related disorder [RCV003405393]\|Hyper-IgM syndrome type 2 [RCV001208331]	pathogenic\|likely pathogenic	12	8605382	8605382	Human	1	name , trait , alternate_id
38481748	CV948171	single nucleotide variant	NM_020661.4(AICDA):c.230G>A (p.Arg77His)	Hyper-IgM syndrome type 2 [RCV001235244]	uncertain significance	12	8605412	8605412	Human	1	name
126761889	CV995385	single nucleotide variant	NM_020661.4(AICDA):c.278A>G (p.His93Arg)	Hyper-IgM syndrome type 2 [RCV001309732]	uncertain significance	12	8605364	8605364	Human	1	name
126731307	CV995386	single nucleotide variant	NM_020661.4(AICDA):c.127T>A (p.Ser43Thr)	Hyper-IgM syndrome type 2 [RCV001294356]	uncertain significance	12	8606894	8606894	Human	1	name
126913496	CV1048129	single nucleotide variant	NM_020661.4(AICDA):c.418A>G (p.Thr140Ala)	Hyper-IgM syndrome type 2 [RCV001359197]	uncertain significance	12	8605224	8605224	Human	1	name
151710122	CV1433604	single nucleotide variant	NM_020661.4(AICDA):c.574G>A (p.Ala192Thr)	Hyper-IgM syndrome type 2 [RCV002001783]	uncertain significance	12	8604307	8604307	Human	1	name
151814625	CV1459744	single nucleotide variant	NM_020661.4(AICDA):c.408A>G (p.Ile136Met)	Hyper-IgM syndrome type 2 [RCV002012780]	uncertain significance	12	8605234	8605234	Human	1	name
151870820	CV1466595	single nucleotide variant	NM_020661.4(AICDA):c.457G>C (p.Glu153Gln)	Hyper-IgM syndrome type 2 [RCV001906451]\|Inborn genetic diseases [RCV003375424]\|not specified [RCV004587243]	uncertain significance	12	8604893	8604893	Human	2	name
151865376	CV1509815	single nucleotide variant	NM_020661.4(AICDA):c.427G>T (p.Asp143Tyr)	Hyper-IgM syndrome type 2 [RCV001924533]	uncertain significance	12	8605215	8605215	Human	1	name
152979569	CV1675635	single nucleotide variant	NM_020661.4(AICDA):c.403C>T (p.Gln135Ter)	Hyper-IgM syndrome type 2 [RCV003232560]	pathogenic\|likely pathogenic	12	8605239	8605239	Human	1	name
155670903	CV1771047	single nucleotide variant	NM_020661.4(AICDA):c.406A>G (p.Ile136Val)	Hyper-IgM syndrome type 2 [RCV002297352]	uncertain significance	12	8605236	8605236	Human	1	name
156156096	CV1875466	single nucleotide variant	NM_020661.4(AICDA):c.511C>T (p.Arg171Cys)	Hyper-IgM syndrome type 2 [RCV003056718]	uncertain significance	12	8604839	8604839	Human	1	name
156139556	CV1921648	single nucleotide variant	NM_020661.4(AICDA):c.352G>A (p.Asp118Asn)	Hyper-IgM syndrome type 2 [RCV002623606]	uncertain significance	12	8605290	8605290	Human	1	name
8596709	CV20164	single nucleotide variant	NM_020661.4(AICDA):c.317T>C (p.Leu106Pro)	Hyper-IgM syndrome type 2 [RCV000005432]	pathogenic	12	8605325	8605325	Human	1	name
8596710	CV20165	single nucleotide variant	NM_020661.4(AICDA):c.415A>G (p.Met139Val)	Hyper-IgM syndrome type 2 [RCV000005433]\|not provided [RCV003333948]	pathogenic	12	8605227	8605227	Human	1	name
8596711	CV20166	single nucleotide variant	NM_020661.4(AICDA):c.441C>A (p.Cys147Ter)	Hyper-IgM syndrome type 2 [RCV000005434]\|not provided [RCV003333949]	pathogenic	12	8604909	8604909	Human	1	name
8596712	CV20167	single nucleotide variant	NM_020661.4(AICDA):c.452T>C (p.Phe151Ser)	Hyper-IgM syndrome type 2 [RCV000005435]	pathogenic	12	8604898	8604898	Human	1	name
156368345	CV2021098	single nucleotide variant	NM_020661.4(AICDA):c.329C>T (p.Thr110Ile)	Hyper-IgM syndrome type 2 [RCV002721338]	uncertain significance	12	8605313	8605313	Human	1	name
156284208	CV2043030	single nucleotide variant	NM_020661.4(AICDA):c.517T>G (p.Ser173Ala)	Hyper-IgM syndrome type 2 [RCV002770498]	uncertain significance	12	8604833	8604833	Human	1	name
156379362	CV2050780	single nucleotide variant	NM_020661.4(AICDA):c.470G>T (p.Arg157Ile)	Hyper-IgM syndrome type 2 [RCV002814967]	uncertain significance	12	8604880	8604880	Human	1	name
156315365	CV2070980	single nucleotide variant	NM_020661.4(AICDA):c.572A>T (p.Asp191Val)	Hyper-IgM syndrome type 2 [RCV002834368]	uncertain significance	12	8604309	8604309	Human	1	name
156229927	CV2140913	single nucleotide variant	NM_020661.4(AICDA):c.511C>G (p.Arg171Gly)	Hyper-IgM syndrome type 2 [RCV003007703]	uncertain significance	12	8604839	8604839	Human	1	name
156196402	CV2157202	single nucleotide variant	NM_020661.4(AICDA):c.595T>A (p.Ter199Arg)	Hyper-IgM syndrome type 2 [RCV003006174]	uncertain significance	12	8604286	8604286	Human	1	name
401878526	CV2770611	single nucleotide variant	NM_020661.4(AICDA):c.383G>T (p.Arg128Leu)	Inborn genetic diseases [RCV003363950]	uncertain significance	12	8605259	8605259	Human	1	name
402480490	CV2890103	single nucleotide variant	NM_020661.4(AICDA):c.566T>G (p.Leu189Ter)	Hyper-IgM syndrome type 2 [RCV003506444]	uncertain significance	12	8604315	8604315	Human	1	name
405105046	CV2944726	single nucleotide variant	NM_020661.4(AICDA):c.496C>T (p.His166Tyr)	Hyper-IgM syndrome type 2 [RCV003614300]	uncertain significance	12	8604854	8604854	Human	1	name
405091920	CV2978479	single nucleotide variant	NM_020661.4(AICDA):c.398G>T (p.Gly133Val)	Hyper-IgM syndrome type 2 [RCV003613798]	uncertain significance	12	8605244	8605244	Human	1	name
405107162	CV3010365	single nucleotide variant	NM_020661.4(AICDA):c.400G>A (p.Val134Met)	Hyper-IgM syndrome type 2 [RCV003614779]	uncertain significance	12	8605242	8605242	Human	1	name
405107374	CV3021547	single nucleotide variant	NM_020661.4(AICDA):c.379C>T (p.Arg127Trp)	Hyper-IgM syndrome type 2 [RCV003614824]	uncertain significance	12	8605263	8605263	Human	1	name
405108379	CV3035653	single nucleotide variant	NM_020661.4(AICDA):c.422T>A (p.Phe141Tyr)	Hyper-IgM syndrome type 2 [RCV003615050]	uncertain significance	12	8605220	8605220	Human	1	name
405211364	CV3117802	single nucleotide variant	NM_020661.4(AICDA):c.356G>A (p.Arg119His)	Hyper-IgM syndrome type 2 [RCV003823401]	uncertain significance	12	8605286	8605286	Human	1	name
404978674	CV3127652	single nucleotide variant	NM_020661.4(AICDA):c.370G>A (p.Glu124Lys)	Hyper-IgM syndrome type 2 [RCV003825684]	uncertain significance	12	8605272	8605272	Human	1	name
405115067	CV3134158	single nucleotide variant	NM_020661.4(AICDA):c.407T>C (p.Ile136Thr)	Hyper-IgM syndrome type 2 [RCV003836760]	uncertain significance	12	8605235	8605235	Human	1	name
404992546	CV3183876	single nucleotide variant	NM_020661.4(AICDA):c.465C>A (p.His155Gln)	Hyper-IgM syndrome type 2 [RCV003881649]	uncertain significance	12	8604885	8604885	Human	1	name
11615919	CV332956	single nucleotide variant	NM_020661.4(AICDA):c.299G>C (p.Gly100Ala)	AICDA-related disorder [RCV003910150]\|Hyper-IgM syndrome type 2 [RCV000888812]\|not specified [RCV001194080]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	8605343	8605343	Human	1	name , trait , alternate_id
407502672	CV3435875	single nucleotide variant	NM_020661.4(AICDA):c.425A>G (p.Lys142Arg)	Inborn genetic diseases [RCV004623519]	uncertain significance	12	8605217	8605217	Human	1	name
408382498	CV3525676	single nucleotide variant	NM_020661.4(AICDA):c.332C>A (p.Ala111Glu)	Hyper-IgM syndrome type 2 [RCV004766586]	likely pathogenic	12	8605310	8605310	Human	1	name
12849596	CV372576	single nucleotide variant	NM_020661.4(AICDA):c.334C>T (p.Arg112Cys)	AICDA-related disorder [RCV003912638]\|Hyper-IgM syndrome type 2 [RCV000808983]\|not provided [RCV000432589]	pathogenic	12	8605308	8605308	Human	1	name , trait , alternate_id
597962696	CV3753765	single nucleotide variant	NM_020661.4(AICDA):c.466G>A (p.Glu156Lys)	Hyper-IgM syndrome type 2 [RCV005082069]	uncertain significance	12	8604884	8604884	Human	1	name
597951163	CV3765339	single nucleotide variant	NM_020661.4(AICDA):c.353A>G (p.Asp118Gly)	Hyper-IgM syndrome type 2 [RCV005120983]	uncertain significance	12	8605289	8605289	Human	1	name
597941519	CV3769130	single nucleotide variant	NM_020661.4(AICDA):c.544C>T (p.Pro182Ser)	Hyper-IgM syndrome type 2 [RCV005118625]	uncertain significance	12	8604337	8604337	Human	1	name
597955220	CV3809425	single nucleotide variant	NM_020661.4(AICDA):c.514C>T (p.Leu172Phe)	Hyper-IgM syndrome type 2 [RCV005162149]	uncertain significance	12	8604836	8604836	Human	1	name
597927463	CV3819855	single nucleotide variant	NM_020661.4(AICDA):c.533G>A (p.Arg178His)	Hyper-IgM syndrome type 2 [RCV005156555]	uncertain significance	12	8604817	8604817	Human	1	name
597973786	CV3820561	single nucleotide variant	NM_020661.4(AICDA):c.350A>G (p.Glu117Gly)	Hyper-IgM syndrome type 2 [RCV005168078]	uncertain significance	12	8605292	8605292	Human	1	name
8602666	CV44321	single nucleotide variant	NM_020661.4(AICDA):c.374G>A (p.Gly125Glu)	Hyper-IgM syndrome type 2 [RCV000029304]	likely pathogenic\|conflicting interpretations of pathogenicity	12	8605268	8605268	Human	1	name
13607316	CV527904	single nucleotide variant	NM_020661.4(AICDA):c.322A>C (p.Ile108Leu)	Hyper-IgM syndrome type 2 [RCV000639378]	uncertain significance	12	8605320	8605320	Human	1	name
13811558	CV565730	single nucleotide variant	NM_020661.4(AICDA):c.557T>C (p.Val186Ala)	Hyper-IgM syndrome type 2 [RCV000703141]	uncertain significance	12	8604324	8604324	Human	1	name
13807512	CV567072	single nucleotide variant	NM_020661.4(AICDA):c.305C>T (p.Pro102Leu)	Hyper-IgM syndrome type 2 [RCV000701166]	uncertain significance	12	8605337	8605337	Human	1	name
13808632	CV572071	single nucleotide variant	NM_020661.4(AICDA):c.533G>C (p.Arg178Pro)	Hyper-IgM syndrome type 2 [RCV000687361]	uncertain significance	12	8604817	8604817	Human	1	name
14698947	CV624464	single nucleotide variant	NM_020661.4(AICDA):c.416T>C (p.Met139Thr)	Hyper-IgM syndrome type 2 [RCV001385304]\|not provided [RCV000788125]	pathogenic	12	8605226	8605226	Human	1	name
14735688	CV641399	single nucleotide variant	NM_020661.4(AICDA):c.552T>A (p.Tyr184Ter)	Hyper-IgM syndrome type 2 [RCV000803288]	uncertain significance	12	8604329	8604329	Human	1	name
14725844	CV641400	single nucleotide variant	NM_020661.4(AICDA):c.391C>T (p.Arg131Cys)	Hyper-IgM syndrome type 2 [RCV000815383]	uncertain significance	12	8605251	8605251	Human	1	name
21072330	CV791279	single nucleotide variant	NM_020661.4(AICDA):c.417G>T (p.Met139Ile)	Hyper-IgM syndrome type 2 [RCV000988783]	likely pathogenic	12	8605225	8605225	Human	1	name
21074197	CV796866	single nucleotide variant	NM_020661.4(AICDA):c.568C>T (p.Arg190Ter)	Hyper-IgM syndrome type 2 [RCV001869384]\|not provided [RCV000994845]	pathogenic\|likely pathogenic	12	8604313	8604313	Human	1	name
26899411	CV840302	single nucleotide variant	NM_020661.4(AICDA):c.428A>T (p.Asp143Val)	Hyper-IgM syndrome type 2 [RCV001043958]	uncertain significance	12	8604922	8604922	Human	1	name
26901024	CV840303	single nucleotide variant	NM_020661.4(AICDA):c.368C>T (p.Pro123Leu)	Hyper-IgM syndrome type 2 [RCV001055376]	uncertain significance	12	8605274	8605274	Human	1	name
26900771	CV840304	single nucleotide variant	NM_020661.4(AICDA):c.353A>C (p.Asp118Ala)	Hyper-IgM syndrome type 2 [RCV001053841]	uncertain significance	12	8605289	8605289	Human	1	name
28881458	CV860012	single nucleotide variant	NM_020661.4(AICDA):c.568C>G (p.Arg190Gly)	Hyper-IgM syndrome type 2 [RCV002555947]\|not provided [RCV001091142]	uncertain significance	12	8604313	8604313	Human	1	name
28911449	CV870489	single nucleotide variant	NM_020661.4(AICDA):c.569G>A (p.Arg190Gln)	Hyper-IgM syndrome type 2 [RCV001110566]	uncertain significance	12	8604312	8604312	Human	1	name
38490361	CV926740	single nucleotide variant	NM_020661.4(AICDA):c.338T>C (p.Leu113Pro)	Hyper-IgM syndrome type 2 [RCV001222115]	pathogenic\|uncertain significance	12	8605304	8605304	Human	1	name
38462255	CV948170	single nucleotide variant	NM_020661.4(AICDA):c.554A>C (p.Glu185Ala)	Hyper-IgM syndrome type 2 [RCV001229689]	uncertain significance	12	8604327	8604327	Human	1	name
38494878	CV956954	single nucleotide variant	NM_020661.4(AICDA):c.329C>G (p.Thr110Ser)	Hyper-IgM syndrome type 2 [RCV001241588]	uncertain significance	12	8605313	8605313	Human	1	name
126761657	CV995384	single nucleotide variant	NM_020661.4(AICDA):c.355C>T (p.Arg119Cys)	Hyper-IgM syndrome type 2 [RCV001309667]	uncertain significance	12	8605287	8605287	Human	1	name
405107614	CV3025441	inversion	NM_020661.4(AICDA):c.464_465inv (p.His155Arg)	Hyper-IgM syndrome type 2 [RCV003614863]	uncertain significance	12	8604885	8604886	Human		name
151721564	CV1347709	indel	NM_020661.4(AICDA):c.283_284delinsTT (p.Ala95Phe)	Hyper-IgM syndrome type 2 [RCV001966057]	uncertain significance	12	8605358	8605359	Human		name
151876014	CV1376389	deletion	NM_020661.4(AICDA):c.110_115del (p.Asp37_Ser38del)	Hyper-IgM syndrome type 2 [RCV002019545]	uncertain significance	12	8606906	8606911	Human	1	name
8596714	CV20169	deletion	NM_020661.4(AICDA):c.177_185del (p.Leu59_Leu62delinsPhe)	Hyper-IgM syndrome type 2 [RCV000005437]	pathogenic	12	8605457	8605465	Human	1	name

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