Edar Variant Search Result - Rat Genome Database

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522 records found for search term Edar

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11663904	CV282182	single nucleotide variant	NM_022336.4(EDAR):c.-4G>A	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000400452]\|Hypohidrotic ectodermal dysplasia [RCV001135566]	uncertain significance	2	108931018	108931018	Human	3	name
9586908	CV165611	single nucleotide variant	NM_022336.4(EDAR):c.*42G>T	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001657819]\|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001657818]\|Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000367811]\|Hypohidrotic ectodermal dysplasia [RCV001130990]\|not provided ... (more) [RCV000143979]	benign\|not provided	2	108896865	108896865	Human	5	name
11549678	CV250080	single nucleotide variant	NM_022336.4(EDAR):c.*16G>C	not specified [RCV000250729]	likely benign	2	108896891	108896891	Human		name
11654063	CV283549	single nucleotide variant	NM_022336.4(EDAR):c.-30A>C	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000314672]\|Hypohidrotic ectodermal dysplasia [RCV001135568]	uncertain significance	2	108988971	108988971	Human	3	name
28879524	CV880831	single nucleotide variant	NM_022336.4(EDAR):c.-71C>G	Hypohidrotic ectodermal dysplasia [RCV001135569]	uncertain significance	2	108989012	108989012	Human	2	name
8558979	CV20893	single nucleotide variant	NM_022336.4(EDAR):c.51+1G>A	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV000006212]	pathogenic	2	108930963	108930963	Human	1	name
11592669	CV281521	single nucleotide variant	NM_022336.4(EDAR):c.*999C>T	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000340908]\|Hypohidrotic ectodermal dysplasia [RCV001135312]	benign\|likely benign	2	108895908	108895908	Human	3	name
11598630	CV281522	single nucleotide variant	NM_022336.4(EDAR):c.*625C>A	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000408038]\|Hypohidrotic ectodermal dysplasia [RCV001130273]	uncertain significance	2	108896282	108896282	Human	3	name
11591636	CV281529	single nucleotide variant	NM_022336.4(EDAR):c.*188G>C	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000330847]\|Hypohidrotic ectodermal dysplasia [RCV001130989]	uncertain significance	2	108896719	108896719	Human	3	name
11590831	CV281539	single nucleotide variant	NM_022336.3(EDAR):c.-414A>G	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000323046]	uncertain significance	2	108989355	108989355	Human	1	name
11597857	CV282146	single nucleotide variant	NM_022336.4(EDAR):c.*935C>T	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000398662]\|Hypohidrotic ectodermal dysplasia [RCV001135314]\|not provided [RCV004710832]	benign\|likely benign	2	108895972	108895972	Human	3	name
11659312	CV282147	single nucleotide variant	NM_022336.4(EDAR):c.*499C>T	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000356492]\|Hypohidrotic ectodermal dysplasia [RCV001130276]	uncertain significance	2	108896408	108896408	Human	3	name
11582718	CV282150	single nucleotide variant	NM_022336.4(EDAR):c.*328G>A	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000261676]\|Hypohidrotic ectodermal dysplasia [RCV001130985]	benign\|likely benign	2	108896579	108896579	Human	3	name
11583917	CV282184	single nucleotide variant	NM_022336.4(EDAR):c.-189T>C	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000269998]\|Hypohidrotic ectodermal dysplasia [RCV001135571]	benign\|uncertain significance	2	108989130	108989130	Human	3	name
11652694	CV282199	single nucleotide variant	NM_022336.4(EDAR):c.-226T>C	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000306432]\|Hypohidrotic ectodermal dysplasia [RCV001135572]	uncertain significance	2	108989167	108989167	Human	3	name
11654918	CV282214	single nucleotide variant	NM_022336.3(EDAR):c.-348G>A	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000321533]	uncertain significance	2	108989289	108989289	Human	1	name
11595916	CV282216	single nucleotide variant	NM_022336.3(EDAR):c.-370C>T	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000376110]\|not provided [RCV001718696]	benign	2	108989311	108989311	Human	1	name
11645926	CV282223	single nucleotide variant	NM_022336.3(EDAR):c.-394T>C	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000267918]	uncertain significance	2	108989335	108989335	Human	1	name
11588751	CV283516	single nucleotide variant	NM_022336.4(EDAR):c.*895C>T	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000305290]\|Hypohidrotic ectodermal dysplasia [RCV001135315]	benign\|likely benign	2	108896012	108896012	Human	3	name
11594507	CV283517	single nucleotide variant	NM_022336.4(EDAR):c.*757T>C	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000359988]\|Hypohidrotic ectodermal dysplasia [RCV001135318]\|not provided [RCV004710833]	benign\|likely benign	2	108896150	108896150	Human	3	name
11651087	CV283525	single nucleotide variant	NM_022336.4(EDAR):c.*602T>A	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000296925]\|Hypohidrotic ectodermal dysplasia [RCV001130274]	uncertain significance	2	108896305	108896305	Human	3	name
11660693	CV283550	single nucleotide variant	NM_022336.4(EDAR):c.-129G>T	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000369335]\|Hypohidrotic ectodermal dysplasia [RCV001135570]	uncertain significance	2	108989070	108989070	Human	3	name
11584058	CV283551	single nucleotide variant	NM_022336.4(EDAR):c.-238C>T	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000271005]\|Hypohidrotic ectodermal dysplasia [RCV001130501]	uncertain significance	2	108989179	108989179	Human	3	name
11660307	CV283675	single nucleotide variant	NM_022336.4(EDAR):c.-235G>A	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000365659]\|Hypohidrotic ectodermal dysplasia [RCV001130500]	uncertain significance	2	108989176	108989176	Human	3	name
28878807	CV880809	single nucleotide variant	NM_022336.4(EDAR):c.*976A>G	Hypohidrotic ectodermal dysplasia [RCV001135313]	uncertain significance	2	108895931	108895931	Human	2	name
28878816	CV880810	single nucleotide variant	NM_022336.4(EDAR):c.*867A>G	Hypohidrotic ectodermal dysplasia [RCV001135316]	uncertain significance	2	108896040	108896040	Human	2	name
28878822	CV880811	single nucleotide variant	NM_022336.4(EDAR):c.*791A>T	Hypohidrotic ectodermal dysplasia [RCV001135317]	uncertain significance	2	108896116	108896116	Human	2	name
28868856	CV880812	single nucleotide variant	NM_022336.4(EDAR):c.*714T>G	Hypohidrotic ectodermal dysplasia [RCV001130271]	uncertain significance	2	108896193	108896193	Human	2	name
28868858	CV880813	single nucleotide variant	NM_022336.4(EDAR):c.*639T>G	Hypohidrotic ectodermal dysplasia [RCV001130272]	uncertain significance	2	108896268	108896268	Human	2	name
28868862	CV880814	single nucleotide variant	NM_022336.4(EDAR):c.*546C>T	Hypohidrotic ectodermal dysplasia [RCV001130275]	uncertain significance	2	108896361	108896361	Human	2	name
28868865	CV880815	single nucleotide variant	NM_022336.4(EDAR):c.*486G>A	Hypohidrotic ectodermal dysplasia [RCV001130277]	uncertain significance	2	108896421	108896421	Human	2	name
28868868	CV880816	single nucleotide variant	NM_022336.4(EDAR):c.*485C>T	Hypohidrotic ectodermal dysplasia [RCV001130278]	uncertain significance	2	108896422	108896422	Human	2	name
28870040	CV880817	single nucleotide variant	NM_022336.4(EDAR):c.*447T>C	Hypohidrotic ectodermal dysplasia [RCV001130983]	uncertain significance	2	108896460	108896460	Human	2	name
28870044	CV880818	single nucleotide variant	NM_022336.4(EDAR):c.*402G>A	Hypohidrotic ectodermal dysplasia [RCV001130984]	uncertain significance	2	108896505	108896505	Human	2	name
28870048	CV880819	single nucleotide variant	NM_022336.4(EDAR):c.*254C>T	Hypohidrotic ectodermal dysplasia [RCV001130986]	benign	2	108896653	108896653	Human	2	name
28870051	CV880820	single nucleotide variant	NM_022336.4(EDAR):c.*242T>C	Hypohidrotic ectodermal dysplasia [RCV001130987]	uncertain significance	2	108896665	108896665	Human	2	name
28870057	CV880821	single nucleotide variant	NM_022336.4(EDAR):c.*191C>T	Hypohidrotic ectodermal dysplasia [RCV001130988]	uncertain significance	2	108896716	108896716	Human	2	name
28869169	CV880832	single nucleotide variant	NM_022336.4(EDAR):c.-256C>T	Hypohidrotic ectodermal dysplasia [RCV001130502]	uncertain significance	2	108989197	108989197	Human	2	name
127268310	CV1058900	single nucleotide variant	NM_022336.4(EDAR):c.964-1G>A	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001389203]	pathogenic	2	108906369	108906369	Human	1	name
150334910	CV1164101	single nucleotide variant	NM_022336.4(EDAR):c.964-1G>C	not provided [RCV001529952]	pathogenic	2	108906369	108906369	Human		name
150529140	CV1288683	single nucleotide variant	NM_022336.4(EDAR):c.529+1G>T	not provided [RCV001727151]	likely pathogenic	2	108912677	108912677	Human		name
151710883	CV1372587	single nucleotide variant	NM_022336.4(EDAR):c.964-2A>G	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001964271]	likely pathogenic	2	108906370	108906370	Human		name
9690468	CV172936	single nucleotide variant	NM_022336.4(EDAR):c.357-4G>A	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001520950]\|Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000285838]\|Hypohidrotic ectodermal dysplasia [RCV001131114]\|not provided [RCV001657890]\|not specified [RCV000156147]	benign\|likely benign	2	108923457	108923457	Human	4	name
8558981	CV20899	single nucleotide variant	NM_022336.4(EDAR):c.803+1G>A	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV000006218]\|Ectodermal dysplasia [RCV001729338]	pathogenic\|not provided	2	108910459	108910459	Human	3	name
156214449	CV2176507	deletion	NM_022336.4(EDAR):c.442+5del	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003024939]	uncertain significance	2	108923363	108923363	Human	1	name
11593981	CV281511	single nucleotide variant	NM_022336.4(EDAR):c.*1900C>T	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000354350]\|Hypohidrotic ectodermal dysplasia [RCV001135183]	benign\|likely benign	2	108895007	108895007	Human	3	name
11654673	CV281513	single nucleotide variant	NM_022336.4(EDAR):c.*1761G>A	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000319542]\|Hypohidrotic ectodermal dysplasia [RCV001130142]	uncertain significance	2	108895146	108895146	Human	3	name
11649801	CV281518	single nucleotide variant	NM_022336.4(EDAR):c.*1226A>C	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000289274]\|Hypohidrotic ectodermal dysplasia [RCV001133820]	uncertain significance	2	108895681	108895681	Human	3	name
11657877	CV281520	single nucleotide variant	NM_022336.4(EDAR):c.*1181C>T	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000344375]\|Hypohidrotic ectodermal dysplasia [RCV001133822]	uncertain significance	2	108895726	108895726	Human	3	name
11586840	CV282145	single nucleotide variant	NM_022336.4(EDAR):c.*1107C>T	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000290599]\|Hypohidrotic ectodermal dysplasia [RCV001135311]	benign\|likely benign	2	108895800	108895800	Human	3	name
11650486	CV283515	single nucleotide variant	NM_022336.4(EDAR):c.*1535C>T	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000292826]\|Hypohidrotic ectodermal dysplasia [RCV001130849]	uncertain significance	2	108895372	108895372	Human	3	name
11583642	CV283642	single nucleotide variant	NM_022336.4(EDAR):c.*2426C>T	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000268013]\|Hypohidrotic ectodermal dysplasia [RCV001135177]\|not provided [RCV004708349]	benign	2	108894481	108894481	Human	3	name
11595771	CV283656	single nucleotide variant	NM_022336.4(EDAR):c.*1598T>C	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000374162]\|Hypohidrotic ectodermal dysplasia [RCV001130847]\|not provided [RCV004708350]	benign	2	108895309	108895309	Human	3	name
11656497	CV283657	single nucleotide variant	NM_022336.4(EDAR):c.*1319C>G	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000333860]\|Hypohidrotic ectodermal dysplasia [RCV001130853]	uncertain significance	2	108895588	108895588	Human	3	name
11596968	CV283659	single nucleotide variant	NM_022336.4(EDAR):c.*1248G>T	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000388221]\|Hypohidrotic ectodermal dysplasia [RCV001133819]\|not provided [RCV004710831]	benign\|likely benign	2	108895659	108895659	Human	3	name
11598038	CV283660	single nucleotide variant	NM_022336.4(EDAR):c.*1129A>G	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000400545]\|Hypohidrotic ectodermal dysplasia [RCV001133824]\|not provided [RCV004708351]	benign	2	108895778	108895778	Human	3	name
597640571	CV3550892	single nucleotide variant	NM_022336.4(EDAR):c.730+1G>T	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV004819268]	pathogenic	2	108910775	108910775	Human	1	name
13211801	CV425392	single nucleotide variant	NM_022336.4(EDAR):c.442+1G>A	not provided [RCV000497932]	pathogenic	2	108923367	108923367	Human		name
13528916	CV496632	single nucleotide variant	NM_022336.4(EDAR):c.529+1G>A	Ectodermal dysplasia [RCV000613299]	pathogenic	2	108912677	108912677	Human	2	name
13819130	CV557541	single nucleotide variant	NM_022336.4(EDAR):c.175-2A>G	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002233266]	likely pathogenic	2	108929381	108929381	Human	1	name
14693175	CV620732	single nucleotide variant	NM_022336.4(EDAR):c.656-1G>A	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000778557]	uncertain significance	2	108910851	108910851	Human		name
28878447	CV880790	single nucleotide variant	NM_022336.4(EDAR):c.*2376T>C	Hypohidrotic ectodermal dysplasia [RCV001135178]	uncertain significance	2	108894531	108894531	Human	2	name
28878452	CV880791	single nucleotide variant	NM_022336.4(EDAR):c.*2189G>T	Hypohidrotic ectodermal dysplasia [RCV001135179]	uncertain significance	2	108894718	108894718	Human	2	name
28878455	CV880792	single nucleotide variant	NM_022336.4(EDAR):c.*2141T>C	Hypohidrotic ectodermal dysplasia [RCV001135180]	benign	2	108894766	108894766	Human	2	name
28878459	CV880793	single nucleotide variant	NM_022336.4(EDAR):c.*2078T>C	Hypohidrotic ectodermal dysplasia [RCV001135181]	benign	2	108894829	108894829	Human	2	name
28878463	CV880794	single nucleotide variant	NM_022336.4(EDAR):c.*2016G>C	Hypohidrotic ectodermal dysplasia [RCV001135182]	uncertain significance	2	108894891	108894891	Human	2	name
28868679	CV880795	single nucleotide variant	NM_022336.4(EDAR):c.*1798G>C	Hypohidrotic ectodermal dysplasia [RCV001130140]	uncertain significance	2	108895109	108895109	Human	2	name
28868680	CV880796	single nucleotide variant	NM_022336.4(EDAR):c.*1774G>A	Hypohidrotic ectodermal dysplasia [RCV001130141]	benign	2	108895133	108895133	Human	2	name
28868682	CV880797	single nucleotide variant	NM_022336.4(EDAR):c.*1710G>C	Hypohidrotic ectodermal dysplasia [RCV001130143]	uncertain significance	2	108895197	108895197	Human	2	name
28868685	CV880798	single nucleotide variant	NM_022336.4(EDAR):c.*1703G>A	Hypohidrotic ectodermal dysplasia [RCV001130144]	uncertain significance	2	108895204	108895204	Human	2	name
28868689	CV880799	single nucleotide variant	NM_022336.4(EDAR):c.*1678C>T	Hypohidrotic ectodermal dysplasia [RCV001130145]	benign	2	108895229	108895229	Human	2	name
28868690	CV880800	single nucleotide variant	NM_022336.4(EDAR):c.*1647C>T	Hypohidrotic ectodermal dysplasia [RCV001130146]	uncertain significance	2	108895260	108895260	Human	2	name
28869807	CV880801	single nucleotide variant	NM_022336.4(EDAR):c.*1563C>T	Hypohidrotic ectodermal dysplasia [RCV001130848]	uncertain significance	2	108895344	108895344	Human	2	name
28869810	CV880802	single nucleotide variant	NM_022336.4(EDAR):c.*1435G>A	Hypohidrotic ectodermal dysplasia [RCV001130850]	uncertain significance	2	108895472	108895472	Human	2	name
28869813	CV880803	single nucleotide variant	NM_022336.4(EDAR):c.*1366A>G	Hypohidrotic ectodermal dysplasia [RCV001130851]	likely benign	2	108895541	108895541	Human	2	name
28869816	CV880804	single nucleotide variant	NM_022336.4(EDAR):c.*1364T>G	Hypohidrotic ectodermal dysplasia [RCV001130852]	likely benign	2	108895543	108895543	Human	2	name
28869820	CV880805	single nucleotide variant	NM_022336.4(EDAR):c.*1298G>C	Hypohidrotic ectodermal dysplasia [RCV001130854]	uncertain significance	2	108895609	108895609	Human	2	name
28875225	CV880806	single nucleotide variant	NM_022336.4(EDAR):c.*1199C>T	Hypohidrotic ectodermal dysplasia [RCV001133821]	uncertain significance	2	108895708	108895708	Human	2	name
28875228	CV880807	single nucleotide variant	NM_022336.4(EDAR):c.*1133C>T	Hypohidrotic ectodermal dysplasia [RCV001133823]\|not provided [RCV004709027]	benign	2	108895774	108895774	Human	2	name
28875231	CV880808	single nucleotide variant	NM_022336.4(EDAR):c.*1108G>A	Hypohidrotic ectodermal dysplasia [RCV001133825]	uncertain significance	2	108895799	108895799	Human	2	name
28869021	CV882776	single nucleotide variant	NM_022336.4(EDAR):c.731-4G>T	EDAR-related disorder [RCV003945846]\|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002070521]\|Hypohidrotic ectodermal dysplasia [RCV001130393]	likely benign	2	108910536	108910536	Human	4	name , trait , alternate_id
38471979	CV939839	single nucleotide variant	NM_022336.4(EDAR):c.803+4T>G	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001202990]	uncertain significance	2	108910456	108910456	Human	1	name
150330489	CV1170790	single nucleotide variant	NM_022336.4(EDAR):c.174+21G>T	not provided [RCV001538106]	benign	2	108930099	108930099	Human		name
150467451	CV1220018	single nucleotide variant	NM_022336.4(EDAR):c.656-37G>A	not provided [RCV001614509]	benign	2	108910887	108910887	Human		name
150439701	CV1221344	single nucleotide variant	NM_022336.4(EDAR):c.442+50C>T	not provided [RCV001610039]	benign	2	108923318	108923318	Human		name
150493569	CV1225690	single nucleotide variant	NM_022336.4(EDAR):c.804-42C>A	not provided [RCV001619206]	benign	2	108908061	108908061	Human		name
150442021	CV1233630	single nucleotide variant	NM_022336.4(EDAR):c.52-135C>T	not provided [RCV001645318]	benign	2	108930377	108930377	Human		name
150445513	CV1261211	single nucleotide variant	NM_022336.4(EDAR):c.174+48T>C	not provided [RCV001679885]	benign	2	108930072	108930072	Human		name
9586913	CV165616	single nucleotide variant	NM_022336.4(EDAR):c.655+30T>C	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001657825]\|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001657824]\|not provided [RCV000143984]	benign\|uncertain significance	2	108910917	108910917	Human	2	name
9586914	CV165617	single nucleotide variant	NM_022336.4(EDAR):c.731-62T>C	not provided [RCV000143985]	uncertain significance	2	108910594	108910594	Human		name
9586915	CV165618	single nucleotide variant	NM_022336.4(EDAR):c.731-99C>T	not provided [RCV000143986]	benign\|uncertain significance	2	108910631	108910631	Human		name
155911279	CV1980181	single nucleotide variant	NM_022336.4(EDAR):c.804-17C>T	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002614010]	likely benign	2	108908036	108908036	Human	1	name
405049836	CV3084551	single nucleotide variant	NM_022336.4(EDAR):c.656-16C>A	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003797958]	likely benign	2	108910866	108910866	Human	1	name
405030293	CV3095840	single nucleotide variant	NM_022336.4(EDAR):c.964-16C>T	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003796337]	likely benign	2	108906384	108906384	Human	1	name
405056850	CV3108121	single nucleotide variant	NM_022336.4(EDAR):c.357-18C>G	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003808699]	benign	2	108923471	108923471	Human	1	name
405067383	CV3110985	single nucleotide variant	NM_022336.4(EDAR):c.1024+2T>C	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003809489]	pathogenic	2	108906306	108906306	Human	1	name
405104869	CV3113115	single nucleotide variant	NM_022336.4(EDAR):c.731-20A>G	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003812406]	uncertain significance	2	108910552	108910552	Human	1	name
597869863	CV3869620	single nucleotide variant	NM_022336.4(EDAR):c.1024+1G>T	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV005215551]	pathogenic	2	108906307	108906307	Human	1	name
597842427	CV3878279	single nucleotide variant	NM_022336.4(EDAR):c.442+14T>C	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV005226768]	benign	2	108923354	108923354	Human	1	name
13475801	CV448663	single nucleotide variant	NM_022336.4(EDAR):c.1024+1G>A	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002231724]	pathogenic\|likely pathogenic	2	108906307	108906307	Human	1	name
8625099	CV80218	single nucleotide variant	NM_022336.3(EDAR):c.655+42C>T	Malignant melanoma [RCV000060294]	not provided	2	108910905	108910905	Human		name
28879517	CV882777	single nucleotide variant	NM_022336.4(EDAR):c.-18-14C>T	Hypohidrotic ectodermal dysplasia [RCV001135567]	benign	2	108931046	108931046	Human	2	name
150332108	CV1163401	single nucleotide variant	NM_022336.4(EDAR):c.804-214T>C	not provided [RCV001528082]	benign	2	108908233	108908233	Human		name
150338850	CV1167212	single nucleotide variant	NM_022336.4(EDAR):c.-18-109C>T	not provided [RCV001533792]	benign	2	108931141	108931141	Human		name
150336974	CV1170789	single nucleotide variant	NM_022336.4(EDAR):c.442+171T>C	not provided [RCV001541318]	benign	2	108923197	108923197	Human		name
150476847	CV1218542	single nucleotide variant	NM_022336.4(EDAR):c.175-237G>A	not provided [RCV001616169]	benign	2	108929616	108929616	Human		name
150440461	CV1220164	single nucleotide variant	NM_022336.4(EDAR):c.357-127G>C	not provided [RCV001610147]	benign	2	108923580	108923580	Human	3	name
150440461	CV1220164	single nucleotide variant	NM_022336.4(EDAR):c.357-127G>C	not provided [RCV001610147]	benign	2	108923580	108923581	Human	3	name
150514263	CV1228134	single nucleotide variant	NM_022336.4(EDAR):c.175-133C>G	not provided [RCV001638412]	benign	2	108929512	108929512	Human		name
150509121	CV1245284	single nucleotide variant	NM_022336.4(EDAR):c.804-102C>T	not provided [RCV001659252]	benign	2	108908121	108908121	Human		name
150458167	CV1248892	single nucleotide variant	NM_022336.4(EDAR):c.804-266A>C	not provided [RCV001669068]	benign	2	108908285	108908285	Human		name
150478120	CV1250835	single nucleotide variant	NM_022336.4(EDAR):c.442+170A>G	not provided [RCV001672324]	benign	2	108923198	108923198	Human		name
150507096	CV1256846	single nucleotide variant	NM_022336.4(EDAR):c.964-214C>A	not provided [RCV001678349]	benign	2	108906582	108906582	Human		name
150461925	CV1263292	single nucleotide variant	NM_022336.4(EDAR):c.1024+68C>A	not provided [RCV001682289]	benign	2	108906240	108906240	Human		name
150459320	CV1264001	single nucleotide variant	NM_022336.4(EDAR):c.175-238C>G	not provided [RCV001681916]	benign	2	108929617	108929617	Human		name
150515551	CV1285579	duplication	NM_022336.4(EDAR):c.443-199dup	not provided [RCV001723032]	benign	2	108912948	108912949	Human		name
150515711	CV1285633	deletion	NM_022336.4(EDAR):c.963+210del	not provided [RCV001723086]	benign	2	108907650	108907650	Human		name
9586909	CV165612	deletion	NM_022336.4(EDAR):c.1024+16del	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002055860]\|not provided [RCV000143980]\|not specified [RCV000242704]	benign\|uncertain significance	2	108906292	108906292	Human	1	name
9586910	CV165613	single nucleotide variant	NM_022336.4(EDAR):c.1024+44C>T	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001657821]\|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001657820]\|not provided [RCV000143981]	benign\|uncertain significance	2	108906264	108906264	Human	2	name
156108498	CV2140028	duplication	NM_022336.4(EDAR):c.1024+16dup	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003002493]	benign	2	108906291	108906292	Human	1	name
402500577	CV3089612	single nucleotide variant	NM_022336.4(EDAR):c.1025-14A>G	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003788535]	likely benign	2	108897243	108897243	Human	1	name
150469789	CV1219132	single nucleotide variant	NM_022336.4(EDAR):c.1024+147T>C	not provided [RCV001614884]	benign	2	108906161	108906161	Human		name
150441022	CV1233477	single nucleotide variant	NM_022336.4(EDAR):c.1025-101T>A	not provided [RCV001645165]	benign	2	108897330	108897330	Human		name
597921092	CV3865700	microsatellite	NM_022336.4(EDAR):c.656-11TC[2]	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV005223506]	uncertain significance	2	108910856	108910857	Human		name
11582393	CV283646	microsatellite	NM_022336.4(EDAR):c.*1888GAGT[1]	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000259723]	likely benign	2	108895012	108895015	Human		name
8558977	CV20887	deletion	NM_022336.4(EDAR):c.52-25_52-8del	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV000006205]	pathogenic	2	108930250	108930267	Human	1	name
11635232	CV283512	duplication	NM_022336.4(EDAR):c.2151_2154dup	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000323109]	likely benign	2	108894752	108894753	Human	1	name
11594299	CV283629	deletion	NM_022336.4(EDAR):c.2426_2430del	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000357958]	uncertain significance	2	108894477	108894481	Human	1	name
408366999	CV3509534	deletion	NM_022336.4(EDAR):c.964-7_964-6del	EDAR-related disorder [RCV004757678]	uncertain significance	2	108906374	108906375	Human		name , trait , alternate_id
402494922	CV3092335	single nucleotide variant	NM_022336.4(EDAR):c.78G>A (p.Ala26=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003787954]	likely benign	2	108930216	108930216	Human	1	name
407425684	CV3409546	single nucleotide variant	NM_022336.4(EDAR):c.42C>T (p.Pro14=)	not provided [RCV004585478]	likely benign	2	108930973	108930973	Human		name
597860474	CV3874799	single nucleotide variant	NM_022336.4(EDAR):c.96T>C (p.Gly32=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV005214140]	likely benign	2	108930198	108930198	Human	1	name
13607344	CV516315	single nucleotide variant	NM_022336.4(EDAR):c.57T>A (p.Ser19=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002234526]\|not provided [RCV004710171]	benign	2	108930237	108930237	Human	1	name
127295999	CV1153783	single nucleotide variant	NM_022336.4(EDAR):c.147G>A (p.Pro49=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001512397]	benign	2	108930147	108930147	Human	1	name
9586912	CV165615	single nucleotide variant	NM_022336.4(EDAR):c.207C>T (p.Tyr69=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002515940]\|Hypohidrotic ectodermal dysplasia [RCV001134063]\|not provided [RCV000143983]	benign\|likely benign\|not provided	2	108929347	108929347	Human	3	name
156142901	CV2200046	single nucleotide variant	NM_022336.4(EDAR):c.10G>C (p.Val4Leu)	Inborn genetic diseases [RCV002641385]	uncertain significance	2	108931005	108931005	Human	1	name
11581927	CV282152	single nucleotide variant	NM_022336.4(EDAR):c.186C>T (p.Tyr62=)	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000390480]\|Hypohidrotic ectodermal dysplasia [RCV001134064]	uncertain significance	2	108929368	108929368	Human	3	name
405022941	CV3084922	single nucleotide variant	NM_022336.4(EDAR):c.219C>G (p.Pro73=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003795788]	likely benign	2	108929335	108929335	Human	1	name
404979065	CV3099330	single nucleotide variant	NM_022336.4(EDAR):c.102C>T (p.Asn34=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003791158]	likely benign	2	108930192	108930192	Human	1	name
405267737	CV3189532	single nucleotide variant	NM_022336.4(EDAR):c.129G>A (p.Leu43=)	EDAR-related disorder [RCV003898926]	likely benign	2	108930165	108930165	Human		name , trait , alternate_id
15110376	CV690705	single nucleotide variant	NM_022336.4(EDAR):c.243A>G (p.Lys81=)	EDAR-related disorder [RCV003955685]\|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002539125]\|Hypohidrotic ectodermal dysplasia [RCV001134060]\|not provided [RCV003438526]	benign\|likely benign	2	108929311	108929311	Human	4	name , trait , alternate_id
28875652	CV880830	single nucleotide variant	NM_022336.4(EDAR):c.156G>A (p.Pro52=)	Hypohidrotic ectodermal dysplasia [RCV001134065]	likely benign	2	108930138	108930138	Human	2	name
126912033	CV1037065	single nucleotide variant	NM_022336.4(EDAR):c.94G>A (p.Gly32Ser)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002547627]\|Inborn genetic diseases [RCV004034453]\|not provided [RCV001356060]	uncertain significance	2	108930200	108930200	Human	2	name
150540466	CV1314591	deletion	NM_022336.4(EDAR):c.126del (p.Leu43fs)	not provided [RCV001781024]	likely pathogenic	2	108930168	108930168	Human		name
152029033	CV1568101	single nucleotide variant	NM_022336.4(EDAR):c.708C>T (p.Asp236=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002105444]	likely benign	2	108910798	108910798	Human	1	name
9586916	CV165619	single nucleotide variant	NM_022336.4(EDAR):c.750C>T (p.Ser250=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001520374]\|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001657827]\|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001657826]\|Hypohidrotic Ectodermal Dysplas ... (more) ia, Dominant [RCV000285005]\|Hypohidrotic ectodermal dysplasia [RCV001130391]\|not provided [RCV000143987]\|not specified [RCV000150611]	benign\|uncertain significance	2	108910513	108910513	Human	5	name
156161081	CV1925355	single nucleotide variant	NM_022336.4(EDAR):c.73C>T (p.Arg25Ter)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002664250]	pathogenic	2	108930221	108930221	Human	1	name
156043351	CV2071749	single nucleotide variant	NM_022336.4(EDAR):c.93C>G (p.Cys31Trp)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002846184]	uncertain significance	2	108930201	108930201	Human	1	name
11550417	CV250082	single nucleotide variant	NM_022336.4(EDAR):c.870C>T (p.Pro290=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002518651]\|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV002500918]\|Hypohidrotic ectodermal dysplasia [RCV001135449]\|not provided [RCV001651248]\|not specified [RCV000251730]	benign\|likely benign	2	108907953	108907953	Human	4	name
11547911	CV250083	single nucleotide variant	NM_022336.4(EDAR):c.822C>A (p.Ser274=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000534738]\|Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000384066]\|Hypohidrotic ectodermal dysplasia [RCV001130387]\|not provided [RCV001711729]\|not specified [RCV000248380]	benign\|likely benign	2	108908001	108908001	Human	4	name
11637745	CV268021	single nucleotide variant	NM_022336.4(EDAR):c.960C>T (p.Ala320=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002521910]\|Hypohidrotic ectodermal dysplasia [RCV001135448]\|not provided [RCV004710693]\|not specified [RCV000291449]	benign\|likely benign	2	108907863	108907863	Human	3	name
401924855	CV2812224	single nucleotide variant	NM_022336.4(EDAR):c.852C>T (p.Val284=)	not provided [RCV003436103]	likely benign	2	108907971	108907971	Human		name
401916786	CV2812225	single nucleotide variant	NM_022336.4(EDAR):c.330C>T (p.Asp110=)	not provided [RCV003429235]	likely benign	2	108929224	108929224	Human		name
11580586	CV283546	single nucleotide variant	NM_022336.4(EDAR):c.68C>T (p.Ser23Leu)	EDAR-related disorder [RCV003950136]\|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002229875]\|Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000337432]\|Hypohidrotic ectodermal dysplasia [RCV001135565]\|Inborn genetic diseases [RCV ... (more) 002521263]	likely benign\|uncertain significance	2	108930226	108930226	Human	6	name , trait , alternate_id
405008777	CV3096292	single nucleotide variant	NM_022336.4(EDAR):c.922C>T (p.Leu308=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003794442]	likely benign	2	108907901	108907901	Human	1	name
405008789	CV3096293	single nucleotide variant	NM_022336.4(EDAR):c.913C>T (p.Leu305=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003794443]	likely benign	2	108907910	108907910	Human	1	name
405270251	CV3215447	single nucleotide variant	NM_022336.4(EDAR):c.381G>A (p.Pro127=)	EDAR-related disorder [RCV003949189]	likely benign	2	108923429	108923429	Human		name , trait , alternate_id
407425045	CV3409322	single nucleotide variant	NM_022336.4(EDAR):c.483C>T (p.Gly161=)	not provided [RCV004585253]	uncertain significance	2	108912724	108912724	Human		name
12892772	CV404752	deletion	NM_022336.4(EDAR):c.284del (p.Gly95fs)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000477893]	pathogenic	2	108929270	108929270	Human	1	name
13475172	CV448540	single nucleotide variant	NM_022336.4(EDAR):c.723G>A (p.Glu241=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000549710]\|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV002497120]\|Hypohidrotic ectodermal dysplasia [RCV001131107]\|not provided [RCV001712499]	benign\|likely benign	2	108910783	108910783	Human	4	name
13477057	CV448751	single nucleotide variant	NM_022336.4(EDAR):c.813T>C (p.Asp271=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000560823]\|Hypohidrotic ectodermal dysplasia [RCV001130388]\|not provided [RCV001692171]	benign	2	108908010	108908010	Human	3	name
13472864	CV448754	single nucleotide variant	NM_022336.4(EDAR):c.43G>A (p.Val15Ile)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002231728]\|Non-syndromic oligodontia [RCV001261887]\|not provided [RCV003105949]	pathogenic\|benign\|uncertain significance	2	108930972	108930972	Human	2	name
15153793	CV696962	single nucleotide variant	NM_022336.4(EDAR):c.726C>T (p.Ala242=)	not provided [RCV000946155]	likely benign	2	108910780	108910780	Human		name
15106123	CV762151	single nucleotide variant	NM_022336.4(EDAR):c.360C>T (p.Tyr120=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001496274]	likely benign	2	108923450	108923450	Human	1	name
25318904	CV816440	single nucleotide variant	NM_022336.4(EDAR):c.93C>A (p.Cys31Ter)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001027975]	pathogenic	2	108930201	108930201	Human	1	name
28879180	CV880823	single nucleotide variant	NM_022336.4(EDAR):c.849C>T (p.Ser283=)	Hypohidrotic ectodermal dysplasia [RCV001135450]	benign	2	108907974	108907974	Human	2	name
28870284	CV880826	single nucleotide variant	NM_022336.4(EDAR):c.675G>A (p.Pro225=)	Hypohidrotic ectodermal dysplasia [RCV001131108]	likely benign	2	108910831	108910831	Human	2	name
28870289	CV880827	single nucleotide variant	NM_022336.4(EDAR):c.606C>T (p.Ile202=)	Hypohidrotic ectodermal dysplasia [RCV001131111]	uncertain significance	2	108910996	108910996	Human	2	name
38479070	CV930768	single nucleotide variant	NM_022336.4(EDAR):c.71C>A (p.Ala24Asp)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002240963]	uncertain significance	2	108930223	108930223	Human	1	name
40886750	CV973235	single nucleotide variant	NM_022336.4(EDAR):c.77C>T (p.Ala26Val)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV005360006]\|Inborn genetic diseases [RCV001265982]	pathogenic\|likely pathogenic	2	108930217	108930217	Human	2	name
42723643	CV984541	deletion	NM_022336.4(EDAR):c.204del (p.Tyr69fs)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001291624]	pathogenic	2	108929350	108929350	Human	1	name
126922269	CV1040487	single nucleotide variant	NM_022336.4(EDAR):c.167C>G (p.Pro56Arg)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001364477]\|Inborn genetic diseases [RCV004619670]	uncertain significance	2	108930127	108930127	Human	2	name
127281785	CV1067779	single nucleotide variant	NM_022336.4(EDAR):c.1059C>T (p.Leu353=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001410688]	likely benign	2	108897195	108897195	Human	1	name
151845367	CV1415020	single nucleotide variant	NM_022336.4(EDAR):c.141C>G (p.Cys47Trp)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001903357]\|not provided [RCV004720966]	pathogenic\|uncertain significance	2	108930153	108930153	Human	1	name
9586911	CV165614	single nucleotide variant	NM_022336.4(EDAR):c.1056C>T (p.Cys352=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001520373]\|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001657823]\|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001657822]\|Hypohidrotic Ectodermal Dysplas ... (more) ia, Dominant [RCV000269800]\|Hypohidrotic ectodermal dysplasia [RCV001133946]\|not provided [RCV000143982]\|not specified [RCV000150610]	benign\|uncertain significance	2	108897198	108897198	Human	5	name
9687753	CV172604	deletion	NM_022336.3(EDAR):c.(?_998)_(1347_?)del	Autosomal dominant hypohidrotic ectodermal dysplasia [RCV000150609]	pathogenic	2	108896907	108906334	Human	1	name
156286698	CV2067857	single nucleotide variant	NM_022336.4(EDAR):c.259T>G (p.Cys87Gly)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002856581]	uncertain significance	2	108929295	108929295	Human	1	name
8596918	CV20888	single nucleotide variant	NM_022336.4(EDAR):c.266G>A (p.Arg89His)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001038628]\|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001253315]\|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV000006206]\|Ectodermal dysplasia 10a, hypoh ... (more) idrotic/hair/tooth type, autosomal dominant [RCV000032598]\|Progressive sclerosing poliodystrophy [RCV000681480]	pathogenic\|likely pathogenic	2	108929288	108929288	Human	3	name
8596919	CV20890	single nucleotide variant	NM_022336.4(EDAR):c.259T>C (p.Cys87Arg)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003764531]\|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV000006209]	pathogenic\|uncertain significance	2	108929295	108929295	Human	2	name
156025595	CV2273994	single nucleotide variant	NM_022336.4(EDAR):c.103G>A (p.Glu35Lys)	Inborn genetic diseases [RCV002844979]\|not provided [RCV004809927]	uncertain significance	2	108930191	108930191	Human	1	name
156268641	CV2296927	single nucleotide variant	NM_022336.4(EDAR):c.179G>A (p.Cys60Tyr)	Inborn genetic diseases [RCV002855876]	uncertain significance	2	108929375	108929375	Human	1	name
156083179	CV2381860	single nucleotide variant	NM_022336.4(EDAR):c.199G>A (p.Glu67Lys)	Inborn genetic diseases [RCV002694634]	uncertain significance	2	108929355	108929355	Human	1	name
11560246	CV259691	single nucleotide variant	NM_022336.4(EDAR):c.212G>A (p.Cys71Tyr)	not provided [RCV000256013]	pathogenic	2	108929342	108929342	Human		name
11636149	CV269619	single nucleotide variant	NM_022336.4(EDAR):c.224C>T (p.Pro75Leu)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003765629]\|Hypohidrotic ectodermal dysplasia [RCV001134061]\|not provided [RCV000263826]	likely benign\|uncertain significance	2	108929330	108929330	Human	3	name
11579331	CV283532	single nucleotide variant	NM_022336.4(EDAR):c.146C>T (p.Pro49Leu)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002229874]\|Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000301138]\|Hypohidrotic ectodermal dysplasia [RCV001134066]\|Inborn genetic diseases [RCV003168496]	likely benign\|uncertain significance	2	108930148	108930148	Human	5	name
404993940	CV3085226	single nucleotide variant	NM_022336.4(EDAR):c.1128C>T (p.His376=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003782757]	likely benign	2	108897126	108897126	Human	1	name
404999823	CV3085952	single nucleotide variant	NM_022336.4(EDAR):c.146C>G (p.Pro49Arg)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003783323]	uncertain significance	2	108930148	108930148	Human	1	name
405061139	CV3108476	duplication	NM_022336.4(EDAR):c.641dup (p.Pro215fs)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003809054]	pathogenic	2	108910960	108910961	Human	1	name
405036976	CV3108703	single nucleotide variant	NM_022336.4(EDAR):c.155C>T (p.Pro52Leu)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003807161]\|Inborn genetic diseases [RCV004981037]	uncertain significance	2	108930139	108930139	Human	2	name
405127930	CV3112113	deletion	NM_022336.4(EDAR):c.931del (p.Glu311fs)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003815587]	pathogenic	2	108907892	108907892	Human	1	name
405293447	CV3191845	single nucleotide variant	NM_022336.4(EDAR):c.1338T>A (p.Ala446=)	EDAR-related disorder [RCV003931829]	likely benign	2	108896916	108896916	Human		name , trait , alternate_id
405286305	CV3192771	single nucleotide variant	NM_022336.4(EDAR):c.1294C>T (p.Leu432=)	EDAR-related disorder [RCV003981513]	likely benign	2	108896960	108896960	Human		name , trait , alternate_id
405708602	CV3225530	deletion	NM_022336.4(EDAR):c.545del (p.Gly182fs)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV003990586]	likely pathogenic	2	108911057	108911057	Human	1	name
407478680	CV3441539	single nucleotide variant	NM_022336.4(EDAR):c.214G>A (p.Val72Ile)	Inborn genetic diseases [RCV004617586]	uncertain significance	2	108929340	108929340	Human	1	name
407478689	CV3441541	single nucleotide variant	NM_022336.4(EDAR):c.295G>A (p.Ala99Thr)	Inborn genetic diseases [RCV004617588]	uncertain significance	2	108929259	108929259	Human	1	name
408394657	CV3521579	single nucleotide variant	NM_022336.4(EDAR):c.158G>A (p.Gly53Glu)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV004764377]	likely pathogenic\|uncertain significance	2	108930136	108930136	Human	1	name
597666403	CV3667403	single nucleotide variant	NM_022336.4(EDAR):c.223C>T (p.Pro75Ser)	Inborn genetic diseases [RCV004979500]	uncertain significance	2	108929331	108929331	Human	1	name
597666408	CV3667404	single nucleotide variant	NM_022336.4(EDAR):c.215T>A (p.Val72Asp)	Inborn genetic diseases [RCV004979501]	uncertain significance	2	108929339	108929339	Human	1	name
598217861	CV3891586	single nucleotide variant	NM_022336.4(EDAR):c.163G>A (p.Glu55Lys)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV005252428]	uncertain significance	2	108930131	108930131	Human	1	name
598165765	CV3954059	single nucleotide variant	NM_022336.4(EDAR):c.146C>A (p.Pro49Gln)	Inborn genetic diseases [RCV005329758]	likely benign	2	108930148	108930148	Human	1	name
13474176	CV448535	single nucleotide variant	NM_022336.4(EDAR):c.1119G>A (p.Thr373=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001411665]	likely benign	2	108897135	108897135	Human	1	name
13473506	CV448537	single nucleotide variant	NM_022336.4(EDAR):c.1017C>A (p.Val339=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000538950]	likely benign	2	108906315	108906315	Human	1	name
13476334	CV448647	single nucleotide variant	NM_022336.4(EDAR):c.1209G>A (p.Thr403=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002231727]	likely benign	2	108897045	108897045	Human	1	name
13528762	CV513511	single nucleotide variant	NM_022336.4(EDAR):c.278G>C (p.Cys93Ser)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV000626106]	pathogenic	2	108929276	108929276	Human	1	name
13607352	CV516303	single nucleotide variant	NM_022336.4(EDAR):c.187G>A (p.Gly63Ser)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002234006]	uncertain significance	2	108929367	108929367	Human	1	name
13607334	CV516309	single nucleotide variant	NM_022336.4(EDAR):c.166C>T (p.Pro56Ser)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002234524]	uncertain significance	2	108930128	108930128	Human	1	name
13607348	CV516392	single nucleotide variant	NM_022336.4(EDAR):c.292C>T (p.Arg98Trp)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000639389]\|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001253683]\|not provided [RCV001090262]	pathogenic\|likely pathogenic	2	108929262	108929262	Human	2	name
13797950	CV553152	single nucleotide variant	NM_022336.4(EDAR):c.265C>T (p.Arg89Cys)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002531420]\|Progressive sclerosing poliodystrophy [RCV000681479]	pathogenic\|likely pathogenic	2	108929289	108929289	Human	2	name
13814743	CV558699	single nucleotide variant	NM_022336.4(EDAR):c.275A>G (p.Asp92Gly)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002233528]	uncertain significance	2	108929279	108929279	Human	1	name
14693176	CV620024	single nucleotide variant	NM_022336.4(EDAR):c.108C>G (p.Tyr36Ter)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000778558]	likely pathogenic\|uncertain significance	2	108930186	108930186	Human		name
14726372	CV628409	single nucleotide variant	NM_022336.4(EDAR):c.122C>A (p.Thr41Lys)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002235071]\|Inborn genetic diseases [RCV003362974]	uncertain significance	2	108930172	108930172	Human	2	name
15113822	CV690701	single nucleotide variant	NM_022336.4(EDAR):c.1305G>A (p.Ala435=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000872821]	benign	2	108896949	108896949	Human	1	name
15138502	CV690702	single nucleotide variant	NM_022336.4(EDAR):c.1179C>T (p.Asp393=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002539239]\|Hypohidrotic ectodermal dysplasia [RCV001133942]	benign	2	108897075	108897075	Human	3	name
15147103	CV690703	single nucleotide variant	NM_022336.4(EDAR):c.1143C>T (p.Phe381=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001519839]\|Hypohidrotic Ectodermal Dysplasia, Dominant [RCV001133943]	benign	2	108897111	108897111	Human	2	name
15141503	CV690704	single nucleotide variant	NM_022336.4(EDAR):c.1017C>T (p.Val339=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001439870]\|Hypohidrotic ectodermal dysplasia [RCV001135447]	likely benign	2	108906315	108906315	Human	3	name
15134560	CV780808	single nucleotide variant	NM_022336.4(EDAR):c.227C>T (p.Ala76Val)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002235985]	likely benign	2	108929327	108929327	Human	1	name
8625100	CV80219	single nucleotide variant	NM_022336.4(EDAR):c.293G>A (p.Arg98Gln)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002982504]	pathogenic\|not provided	2	108929261	108929261	Human	1	name
26914447	CV824673	single nucleotide variant	NM_022336.4(EDAR):c.1038G>A (p.Thr346=)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002239308]	likely benign\|uncertain significance	2	108897216	108897216	Human	1	name
28879170	CV880822	single nucleotide variant	NM_022336.4(EDAR):c.1029T>C (p.Leu343=)	Hypohidrotic ectodermal dysplasia [RCV001135446]	uncertain significance	2	108897225	108897225	Human	2	name
28875645	CV880829	single nucleotide variant	NM_022336.4(EDAR):c.208G>A (p.Gly70Ser)	Hypohidrotic ectodermal dysplasia [RCV001134062]	uncertain significance	2	108929346	108929346	Human	2	name
40903716	CV961039	single nucleotide variant	NM_022336.4(EDAR):c.287T>C (p.Phe96Ser)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001271097]	likely pathogenic	2	108929267	108929267	Human	1	name
126773908	CV1023651	single nucleotide variant	NM_022336.4(EDAR):c.986T>G (p.Ile329Ser)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001346616]	likely pathogenic\|uncertain significance	2	108906346	108906346	Human	1	name
150544112	CV1313113	deletion	NM_022336.4(EDAR):c.1004del (p.Asn335fs)	not provided [RCV001783191]	pathogenic	2	108906328	108906328	Human		name
151890977	CV1346845	single nucleotide variant	NM_022336.4(EDAR):c.569T>C (p.Ile190Thr)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002038962]	uncertain significance	2	108911033	108911033	Human	1	name
151717529	CV1472998	single nucleotide variant	NM_022336.4(EDAR):c.826A>G (p.Asn276Asp)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002039553]	uncertain significance	2	108907997	108907997	Human	1	name
156029929	CV1923163	single nucleotide variant	NM_022336.4(EDAR):c.850G>A (p.Val284Ile)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002612492]\|Inborn genetic diseases [RCV002637115]	likely benign\|uncertain significance	2	108907973	108907973	Human	2	name
155942789	CV2039302	single nucleotide variant	NM_022336.4(EDAR):c.857G>C (p.Ser286Thr)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002775304]\|Inborn genetic diseases [RCV005333341]	uncertain significance	2	108907966	108907966	Human	2	name
8596923	CV20895	single nucleotide variant	NM_022336.4(EDAR):c.329A>C (p.Asp110Ala)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV000006214]	pathogenic	2	108929225	108929225	Human	1	name
156264331	CV2282649	single nucleotide variant	NM_022336.4(EDAR):c.807G>C (p.Glu269Asp)	Inborn genetic diseases [RCV002831911]	uncertain significance	2	108908016	108908016	Human	1	name
156289052	CV2333046	single nucleotide variant	NM_022336.4(EDAR):c.845G>A (p.Arg282Gln)	Inborn genetic diseases [RCV002961471]	uncertain significance	2	108907978	108907978	Human	1	name
156215923	CV2347925	single nucleotide variant	NM_022336.4(EDAR):c.506C>T (p.Ser169Phe)	Inborn genetic diseases [RCV002985808]	uncertain significance	2	108912701	108912701	Human	1	name
156253058	CV2366116	single nucleotide variant	NM_022336.4(EDAR):c.352C>T (p.Pro118Ser)	Inborn genetic diseases [RCV002988092]	uncertain significance	2	108929202	108929202	Human	1	name
243055318	CV2407372	single nucleotide variant	NM_022336.4(EDAR):c.408C>A (p.Tyr136Ter)	not provided [RCV003144922]	likely pathogenic	2	108923402	108923402	Human		name
329386251	CV2454903	single nucleotide variant	NM_022336.4(EDAR):c.321G>A (p.Met107Ile)	Inborn genetic diseases [RCV003214698]	uncertain significance	2	108929233	108929233	Human	1	name
11547618	CV250084	single nucleotide variant	NM_022336.4(EDAR):c.319A>G (p.Met107Val)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002519938]\|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV005361495]\|Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000336113]\|Hypohidrotic ectodermal dysplasia [RCV001134059]\|Non-syndromi ... (more) c oligodontia [RCV001261885]\|not specified [RCV000247995]	pathogenic\|benign\|likely benign\|uncertain significance	2	108929235	108929235	Human	6	name
11558068	CV259690	single nucleotide variant	NM_022336.4(EDAR):c.463G>A (p.Ala155Thr)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002059056]\|Hypohidrotic ectodermal dysplasia [RCV001131113]\|Inborn genetic diseases [RCV004021023]\|not provided [RCV000255100]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	108912744	108912744	Human	4	name
401749934	CV2704838	single nucleotide variant	NM_022336.4(EDAR):c.779C>T (p.Ala260Val)	Inborn genetic diseases [RCV003276600]	uncertain significance	2	108910484	108910484	Human	1	name
11580628	CV281537	single nucleotide variant	NM_022336.4(EDAR):c.674C>T (p.Pro225Leu)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002229963]\|Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000339609]\|Hypohidrotic ectodermal dysplasia [RCV001131109]	uncertain significance	2	108910832	108910832	Human	4	name
11580307	CV283531	single nucleotide variant	NM_022336.4(EDAR):c.844C>T (p.Arg282Trp)	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000329517]\|Hypohidrotic ectodermal dysplasia [RCV001135452]\|Inborn genetic diseases [RCV005328245]	likely benign\|uncertain significance	2	108907979	108907979	Human	4	name
11581679	CV283667	single nucleotide variant	NM_022336.4(EDAR):c.607G>A (p.Val203Ile)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003765912]\|Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000380246]\|Hypohidrotic ectodermal dysplasia [RCV001131110]\|Inborn genetic diseases [RCV002521262]\|not provided [RCV000523863]	uncertain significance	2	108910995	108910995	Human	5	name
402500538	CV3089608	single nucleotide variant	NM_022336.4(EDAR):c.961G>A (p.Gly321Arg)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003788531]	uncertain significance	2	108907862	108907862	Human	1	name
402508582	CV3090744	single nucleotide variant	NM_022336.4(EDAR):c.911C>T (p.Ser304Leu)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003789361]	uncertain significance	2	108907912	108907912	Human	1	name
405007890	CV3096219	single nucleotide variant	NM_022336.4(EDAR):c.893C>G (p.Pro298Arg)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003794369]	uncertain significance	2	108907930	108907930	Human	1	name
405050941	CV3097833	deletion	NM_022336.4(EDAR):c.1221del (p.Ser407fs)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003808246]	pathogenic	2	108897033	108897033	Human	1	name
405065545	CV3103344	single nucleotide variant	NM_022336.4(EDAR):c.397A>C (p.Met133Leu)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003799174]	uncertain significance	2	108923413	108923413	Human	1	name
405767112	CV3248191	single nucleotide variant	NM_022336.4(EDAR):c.775A>T (p.Thr259Ser)	Inborn genetic diseases [RCV004384484]	uncertain significance	2	108910488	108910488	Human	1	name
408367010	CV3500370	single nucleotide variant	NM_022336.4(EDAR):c.346T>C (p.Cys116Arg)	not provided [RCV004722373]	pathogenic	2	108929208	108929208	Human		name
597666392	CV3667401	single nucleotide variant	NM_022336.4(EDAR):c.933G>C (p.Glu311Asp)	Inborn genetic diseases [RCV004979498]	uncertain significance	2	108907890	108907890	Human	1	name
597666414	CV3667405	single nucleotide variant	NM_022336.4(EDAR):c.764T>A (p.Phe255Tyr)	Inborn genetic diseases [RCV004979502]	uncertain significance	2	108910499	108910499	Human	1	name
597666418	CV3667406	single nucleotide variant	NM_022336.4(EDAR):c.521C>T (p.Ala174Val)	Inborn genetic diseases [RCV004979503]	uncertain significance	2	108912686	108912686	Human	1	name
597666423	CV3667408	single nucleotide variant	NM_022336.4(EDAR):c.649G>T (p.Ala217Ser)	Inborn genetic diseases [RCV004979504]	uncertain significance	2	108910953	108910953	Human	1	name
597666429	CV3667409	single nucleotide variant	NM_022336.4(EDAR):c.722A>C (p.Glu241Ala)	Inborn genetic diseases [RCV004979505]	uncertain significance	2	108910784	108910784	Human	1	name
597666434	CV3667410	single nucleotide variant	NM_022336.4(EDAR):c.685G>A (p.Val229Met)	Inborn genetic diseases [RCV004979506]	uncertain significance	2	108910821	108910821	Human	1	name
597922641	CV3867268	deletion	NM_022336.4(EDAR):c.1090del (p.Tyr364fs)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV005223694]	pathogenic	2	108897164	108897164	Human	1	name
597900732	CV3876553	deletion	NM_022336.4(EDAR):c.1164del (p.Ile388fs)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV005220251]	pathogenic	2	108897090	108897090	Human	1	name
598216408	CV3891419	single nucleotide variant	NM_022336.4(EDAR):c.389T>A (p.Ile130Asn)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV005252261]	uncertain significance	2	108923421	108923421	Human	1	name
598165770	CV3954060	single nucleotide variant	NM_022336.4(EDAR):c.964A>C (p.Ile322Leu)	Inborn genetic diseases [RCV005329759]	uncertain significance	2	108906368	108906368	Human	1	name
13435955	CV433520	single nucleotide variant	NM_022336.4(EDAR):c.481G>A (p.Gly161Ser)	Inborn genetic diseases [RCV004619309]\|not specified [RCV000506314]	likely benign\|uncertain significance	2	108912726	108912726	Human	1	name
13471847	CV442904	single nucleotide variant	NM_022336.4(EDAR):c.903C>A (p.Cys301Ter)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002231202]\|not provided [RCV000521198]	pathogenic	2	108907920	108907920	Human	1	name
13531840	CV511312	single nucleotide variant	NM_022336.4(EDAR):c.985A>T (p.Ile329Phe)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002533140]\|Inborn genetic diseases [RCV000623679]	likely pathogenic\|uncertain significance	2	108906347	108906347	Human	2	name
13812920	CV557486	single nucleotide variant	NM_022336.4(EDAR):c.931G>T (p.Glu311Ter)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000689707]	pathogenic	2	108907892	108907892	Human	1	name
13810180	CV557539	duplication	NM_022336.4(EDAR):c.1169dup (p.Met391fs)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002233379]	pathogenic	2	108897084	108897085	Human	1	name
13807689	CV558697	deletion	NM_022336.4(EDAR):c.1089del (p.Tyr364fs)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002233144]	pathogenic	2	108897165	108897165	Human	1	name
14704164	CV628406	deletion	NM_022336.4(EDAR):c.1088del (p.Thr363fs)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002233880]	pathogenic	2	108897166	108897166	Human	1	name
14716907	CV628408	single nucleotide variant	NM_022336.4(EDAR):c.328G>A (p.Asp110Asn)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV005208600]\|not provided [RCV003226979]	uncertain significance	2	108929226	108929226	Human	1	name
15105566	CV685832	single nucleotide variant	NM_022336.4(EDAR):c.736G>A (p.Val246Met)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000871127]\|Hypohidrotic ectodermal dysplasia [RCV001130392]\|not provided [RCV004708991]	benign	2	108910527	108910527	Human	3	name
26885881	CV824671	deletion	NM_022336.4(EDAR):c.1169del (p.Gly390fs)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001065716]	pathogenic	2	108897085	108897085	Human	1	name
26903501	CV824674	single nucleotide variant	NM_022336.4(EDAR):c.973C>T (p.Arg325Trp)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001050481]	likely pathogenic\|uncertain significance	2	108906359	108906359	Human	1	name
26895428	CV824675	single nucleotide variant	NM_022336.4(EDAR):c.802A>T (p.Ser268Cys)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002240567]\|Hypohidrotic ectodermal dysplasia [RCV001130389]\|Inborn genetic diseases [RCV004030720]	uncertain significance	2	108910461	108910461	Human	4	name
26917634	CV824676	single nucleotide variant	NM_022336.4(EDAR):c.575T>G (p.Met192Arg)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002239337]	uncertain significance	2	108911027	108911027	Human	1	name
26914739	CV824677	single nucleotide variant	NM_022336.4(EDAR):c.392A>G (p.Tyr131Cys)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002240467]	uncertain significance	2	108923418	108923418	Human	1	name
28879182	CV880824	single nucleotide variant	NM_022336.4(EDAR):c.849C>A (p.Ser283Arg)	Hypohidrotic ectodermal dysplasia [RCV001135451]	uncertain significance	2	108907974	108907974	Human	2	name
28869017	CV880825	single nucleotide variant	NM_022336.4(EDAR):c.755A>G (p.Lys252Arg)	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV001130390]	uncertain significance	2	108910508	108910508	Human	1	name
28870291	CV880828	single nucleotide variant	NM_022336.4(EDAR):c.560C>T (p.Ala187Val)	Hypohidrotic ectodermal dysplasia [RCV001131112]	uncertain significance	2	108911042	108911042	Human	2	name
40815802	CV918179	single nucleotide variant	NM_022336.4(EDAR):c.871G>A (p.Ala291Thr)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV005394804]\|Non-syndromic oligodontia [RCV001261886]	pathogenic\|uncertain significance	2	108907952	108907952	Human	2	name
40815798	CV918180	single nucleotide variant	NM_022336.4(EDAR):c.404G>A (p.Cys135Tyr)	Non-syndromic oligodontia [RCV001261882]	pathogenic	2	108923406	108923406	Human	1	name
38497392	CV942195	single nucleotide variant	NM_022336.4(EDAR):c.979A>T (p.Lys327Ter)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001227034]	pathogenic	2	108906353	108906353	Human	1	name
40888287	CV974932	single nucleotide variant	NM_022336.4(EDAR):c.338G>A (p.Cys113Tyr)	Ectodermal dysplasia [RCV001729830]\|Oligodontia [RCV001267873]	pathogenic\|not provided	2	108929216	108929216	Human	4	name
126744419	CV985805	single nucleotide variant	NM_022336.4(EDAR):c.442T>C (p.Cys148Arg)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001293769]	likely pathogenic	2	108923368	108923368	Human	1	name
126744498	CV987889	single nucleotide variant	NM_022336.4(EDAR):c.991G>A (p.Asp331Asn)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002241816]\|Inborn genetic diseases [RCV004978246]	uncertain significance	2	108906341	108906341	Human	2	name
126745139	CV1003151	single nucleotide variant	NM_022336.4(EDAR):c.1270G>A (p.Val424Met)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002241999]\|Oligodontia [RCV005051892]	pathogenic\|uncertain significance	2	108896984	108896984	Human	3	name
126747435	CV1023650	single nucleotide variant	NM_022336.4(EDAR):c.1213G>C (p.Gly405Arg)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001337468]	likely pathogenic\|uncertain significance	2	108897041	108897041	Human	1	name
151726049	CV1339604	single nucleotide variant	NM_022336.4(EDAR):c.1000G>A (p.Ala334Thr)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002004270]	uncertain significance	2	108906332	108906332	Human	1	name
151883291	CV1384154	single nucleotide variant	NM_022336.4(EDAR):c.1264G>A (p.Asp422Asn)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001886908]	uncertain significance	2	108896990	108896990	Human	1	name
151790445	CV1394376	single nucleotide variant	NM_022336.4(EDAR):c.1094A>G (p.Asn365Ser)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002047049]	uncertain significance	2	108897160	108897160	Human	1	name
151765279	CV1403267	single nucleotide variant	NM_022336.4(EDAR):c.1273G>A (p.Glu425Lys)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001914438]	uncertain significance	2	108896981	108896981	Human	1	name
151890151	CV1514623	single nucleotide variant	NM_022336.4(EDAR):c.1293A>G (p.Ile431Met)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001963574]	likely pathogenic\|uncertain significance	2	108896961	108896961	Human	1	name
153348323	CV1695355	single nucleotide variant	NM_022336.4(EDAR):c.1133C>T (p.Ala378Val)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002279876]	uncertain significance	2	108897121	108897121	Human	1	name
155691450	CV1772581	single nucleotide variant	NM_022336.4(EDAR):c.1292T>C (p.Ile431Thr)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002294927]	pathogenic\|uncertain significance	2	108896962	108896962	Human	1	name
155705748	CV1775060	single nucleotide variant	NM_022336.4(EDAR):c.1280T>G (p.Leu427Trp)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002300237]	uncertain significance	2	108896974	108896974	Human	1	name
155689534	CV1777869	single nucleotide variant	NM_022336.4(EDAR):c.1282T>C (p.Cys428Arg)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002299214]\|not provided [RCV004697208]	pathogenic\|likely pathogenic\|uncertain significance	2	108896972	108896972	Human	1	name
10047795	CV191278	single nucleotide variant	NM_022336.4(EDAR):c.1144G>A (p.Gly382Ser)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001384049]\|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV005208127]\|not provided [RCV000255133]	pathogenic	2	108897110	108897110	Human	2	name
156000213	CV2074576	single nucleotide variant	NM_022336.4(EDAR):c.1148T>C (p.Leu383Pro)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002843369]	uncertain significance	2	108897106	108897106	Human	1	name
155956857	CV2087038	single nucleotide variant	NM_022336.4(EDAR):c.1208C>G (p.Thr403Arg)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002862652]	likely pathogenic	2	108897046	108897046	Human	1	name
8596920	CV20891	single nucleotide variant	NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000532015]\|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003505080]\|Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant [RCV000006210]\|Non-syndromic oligodontia [RCV00 ... (more) 1261883]\|not provided [RCV000255664]	pathogenic	2	108897182	108897182	Human	2	name
8596921	CV20892	single nucleotide variant	NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000755721]\|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001050412]\|Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant [RCV000006211]\|Ectodermal dysplasia 11B, hypohi ... (more) drotic/hair/tooth type, autosomal recessive [RCV001334149]\|not provided [RCV000255701]	pathogenic\|likely pathogenic	2	108896995	108896995	Human	2	name
8596922	CV20894	single nucleotide variant	NM_022336.4(EDAR):c.1124G>A (p.Arg375His)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV000006213]\|not provided [RCV005251019]	pathogenic\|likely pathogenic	2	108897130	108897130	Human	1	name
8596924	CV20896	single nucleotide variant	NM_022336.4(EDAR):c.1060G>T (p.Glu354Ter)	Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant [RCV000006215]	pathogenic	2	108897194	108897194	Human	1	name
8596925	CV20897	single nucleotide variant	NM_022336.4(EDAR):c.1109T>C (p.Val370Ala)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001523395]\|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001659685]\|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001659684]\|Ectodermal dysplasia 10B, hypoh ... (more) idrotic/hair/tooth type, autosomal recessive [RCV005394125]\|Hair morphology 1, hair thickness [RCV000006216]\|Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000382959]\|Hypohidrotic ectodermal dysplasia [RCV001133945]\|Non-syndromic oligodontia [RCV001261884]\|not provided [RCV001723544]\|not specified [RCV000174399]	pathogenic\|association\|benign	2	108897145	108897145	Human	6	name
156316663	CV2104196	single nucleotide variant	NM_022336.4(EDAR):c.1105G>C (p.Ala369Pro)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002937491]	benign\|uncertain significance	2	108897149	108897149	Human	1	name
156225708	CV2115345	single nucleotide variant	NM_022336.4(EDAR):c.1297G>T (p.Glu433Ter)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002932627]	pathogenic	2	108896957	108896957	Human	1	name
156341021	CV2225736	single nucleotide variant	NM_022336.4(EDAR):c.1165G>A (p.Gly389Arg)	Inborn genetic diseases [RCV002719117]	uncertain significance	2	108897089	108897089	Human	1	name
156303909	CV2341318	single nucleotide variant	NM_022336.4(EDAR):c.1309G>T (p.Val437Phe)	Inborn genetic diseases [RCV002936609]	uncertain significance	2	108896945	108896945	Human	1	name
243051138	CV2415719	single nucleotide variant	NM_022336.4(EDAR):c.1057C>T (p.Leu353Phe)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003778891]\|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV003148326]	uncertain significance	2	108897197	108897197	Human	2	name
329382642	CV2465302	single nucleotide variant	NM_022336.4(EDAR):c.1267G>A (p.Ala423Thr)	Inborn genetic diseases [RCV003213475]	uncertain significance	2	108896987	108896987	Human	1	name
11543873	CV250081	single nucleotide variant	NM_022336.4(EDAR):c.1138A>C (p.Ser380Arg)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000864277]\|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV005361494]\|Hypohidrotic ectodermal dysplasia [RCV001133944]\|Non-syndromic oligodontia [RCV001261888]\|not specified [RCV000243038]	pathogenic\|benign\|uncertain significance	2	108897116	108897116	Human	5	name
11560265	CV259688	single nucleotide variant	NM_022336.4(EDAR):c.1121G>A (p.Trp374Ter)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001068701]\|not provided [RCV000256050]	pathogenic\|likely pathogenic	2	108897133	108897133	Human	1	name
11559758	CV259689	single nucleotide variant	NM_022336.4(EDAR):c.1073G>A (p.Arg358Gln)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001389818]\|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001808722]\|not provided [RCV000254918]	pathogenic	2	108897181	108897181	Human	1	name
11567934	CV263002	single nucleotide variant	NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000258329]	likely pathogenic	2	108896970	108896970	Human	1	name
401916784	CV2812223	single nucleotide variant	NM_022336.4(EDAR):c.1202T>C (p.Ile401Thr)	not provided [RCV003429234]	likely pathogenic	2	108897052	108897052	Human		name
11580431	CV281533	single nucleotide variant	NM_022336.4(EDAR):c.1183A>G (p.Met395Val)	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000333021]\|Hypohidrotic ectodermal dysplasia [RCV001133941]	uncertain significance	2	108897071	108897071	Human	3	name
11647686	CV283530	single nucleotide variant	NM_022336.4(EDAR):c.1288G>A (p.Asp430Asn)	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000277963]\|Hypohidrotic ectodermal dysplasia [RCV001133940]	uncertain significance	2	108896966	108896966	Human	3	name
402523737	CV3086682	single nucleotide variant	NM_022336.4(EDAR):c.1246G>A (p.Val416Met)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003781299]	uncertain significance	2	108897008	108897008	Human	1	name
402494688	CV3092308	single nucleotide variant	NM_022336.4(EDAR):c.1205G>A (p.Ser402Asn)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003787927]	likely pathogenic	2	108897049	108897049	Human	1	name
405032240	CV3098641	single nucleotide variant	NM_022336.4(EDAR):c.1135G>A (p.Glu379Lys)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003806765]\|not provided [RCV004719393]	likely pathogenic\|uncertain significance	2	108897119	108897119	Human	1	name
405036010	CV3098860	single nucleotide variant	NM_022336.4(EDAR):c.1018G>A (p.Val340Met)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003806986]	uncertain significance	2	108906314	108906314	Human	1	name
405015299	CV3106883	single nucleotide variant	NM_022336.4(EDAR):c.1264G>T (p.Asp422Tyr)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003795053]	uncertain significance	2	108896990	108896990	Human	1	name
405159083	CV3109521	single nucleotide variant	NM_022336.4(EDAR):c.1199G>C (p.Arg400Pro)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003802045]	uncertain significance	2	108897055	108897055	Human	1	name
405152564	CV3110186	single nucleotide variant	NM_022336.4(EDAR):c.1218C>G (p.Tyr406Ter)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003817706]	pathogenic	2	108897036	108897036	Human	1	name
405040948	CV3112833	single nucleotide variant	NM_022336.4(EDAR):c.1280T>C (p.Leu427Ser)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003807500]	pathogenic	2	108896974	108896974	Human	1	name
405767101	CV3248189	single nucleotide variant	NM_022336.4(EDAR):c.1112T>C (p.Val371Ala)	Inborn genetic diseases [RCV004384482]	uncertain significance	2	108897142	108897142	Human	1	name
405767108	CV3248190	single nucleotide variant	NM_022336.4(EDAR):c.1196A>C (p.Asp399Ala)	Inborn genetic diseases [RCV004384483]	uncertain significance	2	108897058	108897058	Human	1	name
596921387	CV3535009	single nucleotide variant	NM_022336.4(EDAR):c.1295T>C (p.Leu432Pro)	not provided [RCV004784567]	uncertain significance	2	108896959	108896959	Human		name
596926754	CV3536327	single nucleotide variant	NM_022336.4(EDAR):c.1273G>T (p.Glu425Ter)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV004789734]	likely pathogenic	2	108896981	108896981	Human	1	name
596924822	CV3540395	single nucleotide variant	NM_022336.4(EDAR):c.1271T>G (p.Val424Gly)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV004794723]	likely pathogenic	2	108896983	108896983	Human	1	name
597666398	CV3667402	single nucleotide variant	NM_022336.4(EDAR):c.1004A>C (p.Asn335Thr)	Inborn genetic diseases [RCV004979499]	uncertain significance	2	108906328	108906328	Human	1	name
597861536	CV3865358	single nucleotide variant	NM_022336.4(EDAR):c.1037C>T (p.Thr346Met)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV005214252]	likely benign	2	108897217	108897217	Human	1	name
597837633	CV3866839	single nucleotide variant	NM_022336.4(EDAR):c.1258C>T (p.Arg420Trp)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV005225830]	likely pathogenic	2	108896996	108896996	Human	1	name
597854421	CV3869895	single nucleotide variant	NM_022336.4(EDAR):c.1213G>A (p.Gly405Ser)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV005213180]	likely pathogenic	2	108897041	108897041	Human	1	name
597854280	CV3869896	single nucleotide variant	NM_022336.4(EDAR):c.1202T>A (p.Ile401Asn)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV005213181]	uncertain significance	2	108897052	108897052	Human	1	name
597854137	CV3869897	single nucleotide variant	NM_022336.4(EDAR):c.1198C>G (p.Arg400Gly)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV005213182]	uncertain significance	2	108897056	108897056	Human	1	name
597890677	CV3871629	single nucleotide variant	NM_022336.4(EDAR):c.1037C>A (p.Thr346Lys)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV005218797]	uncertain significance	2	108897217	108897217	Human	1	name
597851324	CV3873379	single nucleotide variant	NM_022336.4(EDAR):c.1181G>A (p.Gly394Asp)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV005212822]	likely pathogenic	2	108897073	108897073	Human	1	name
616938965	CV4015292	single nucleotide variant	NM_022336.4(EDAR):c.1018G>C (p.Val340Leu)	not provided [RCV005412801]	likely pathogenic	2	108906314	108906314	Human		name
12894123	CV405281	single nucleotide variant	NM_022336.4(EDAR):c.1284T>G (p.Cys428Trp)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003766702]\|not provided [RCV000481594]	likely pathogenic\|uncertain significance	2	108896970	108896970	Human	1	name
12895007	CV405282	single nucleotide variant	NM_022336.4(EDAR):c.1229A>G (p.Glu410Gly)	not provided [RCV000484954]	likely pathogenic	2	108897025	108897025	Human		name
13476553	CV448635	single nucleotide variant	NM_022336.4(EDAR):c.1132G>A (p.Ala378Thr)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002231725]	pathogenic\|likely pathogenic	2	108897122	108897122	Human	1	name
13474618	CV448659	single nucleotide variant	NM_022336.4(EDAR):c.1175C>T (p.Thr392Ile)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002231726]	uncertain significance	2	108897079	108897079	Human	1	name
13472418	CV448661	single nucleotide variant	NM_022336.4(EDAR):c.1163T>C (p.Ile388Thr)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000531671]\|not provided [RCV002307537]	pathogenic\|likely pathogenic\|uncertain significance	2	108897091	108897091	Human	1	name
14696229	CV622271	single nucleotide variant	NM_022336.4(EDAR):c.1300T>G (p.Trp434Gly)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV000782364]	pathogenic	2	108896954	108896954	Human	1	name
14723705	CV628405	single nucleotide variant	NM_022336.4(EDAR):c.1142T>C (p.Phe381Ser)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002234879]	uncertain significance	2	108897112	108897112	Human	1	name
26918870	CV824670	single nucleotide variant	NM_022336.4(EDAR):c.1214G>C (p.Gly405Ala)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001058350]	pathogenic\|uncertain significance	2	108897040	108897040	Human	1	name
26917672	CV824672	single nucleotide variant	NM_022336.4(EDAR):c.1130T>C (p.Leu377Pro)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001042797]	uncertain significance	2	108897124	108897124	Human	1	name
38492872	CV922224	single nucleotide variant	NM_022336.4(EDAR):c.1208C>T (p.Thr403Met)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001223855]	pathogenic	2	108897046	108897046	Human	1	name
38472140	CV930767	single nucleotide variant	NM_022336.4(EDAR):c.1214G>A (p.Gly405Asp)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002240938]	pathogenic\|uncertain significance	2	108897040	108897040	Human	1	name
38491062	CV952608	single nucleotide variant	NM_022336.4(EDAR):c.1156G>A (p.Asp386Asn)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001239215]	uncertain significance	2	108897098	108897098	Human	1	name
40888067	CV973234	single nucleotide variant	NM_022336.4(EDAR):c.1007T>A (p.Val336Glu)	Inborn genetic diseases [RCV001267603]	uncertain significance	2	108906325	108906325	Human	1	name
126744553	CV987888	single nucleotide variant	NM_022336.4(EDAR):c.1006G>A (p.Val336Met)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002241717]\|not provided [RCV001732116]	uncertain significance	2	108906326	108906326	Human	1	name
126732880	CV1019446	deletion	NM_022336.4(EDAR):c.520_523del (p.Ala174fs)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001334150]	pathogenic	2	108912684	108912687	Human		name
8558980	CV20898	microsatellite	NM_022336.4(EDAR):c.719_722del (p.Lys240fs)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV000006217]	pathogenic\|likely pathogenic	2	108910784	108910787	Human		name
14696228	CV622270	indel	NM_022336.4(EDAR):c.207delinsTT (p.Gly70fs)	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV000782363]	pathogenic	2	108929347	108929347	Human		name
14740346	CV628407	microsatellite	NM_022336.4(EDAR):c.1061AGA[1] (p.Lys355del)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002234987]	uncertain significance	2	108897188	108897190	Human		name
151776464	CV1463879	microsatellite	NM_022336.4(EDAR):c.1151_1154dup (p.Asp386fs)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001896839]	pathogenic	2	108897099	108897100	Human		name
408385853	CV3528712	deletion	NM_022336.4(EDAR):c.1044_1046del (p.Pro349del)	not provided [RCV004772545]	uncertain significance	2	108897208	108897210	Human		name
596924820	CV3540393	insertion	NM_022336.4(EDAR):c.1087_1088insGA (p.Thr363fs)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV004794722]	likely pathogenic	2	108897166	108897167	Human	1	name
405094046	CV3105504	deletion	NM_022336.4(EDAR):c.1174_1185del (p.Thr392_Met395del)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV003801221]	uncertain significance	2	108897069	108897080	Human	1	name
151883383	CV1432084	microsatellite	NM_022336.4(EDAR):c.1097_1098del (p.Asn365_Ser366insTer)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002000044]	pathogenic	2	108897156	108897157	Human		name
13607341	CV516391	deletion	NM_022336.4(EDAR):c.1193_1194del (p.Leu397_Phe398insTer)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002234525]	pathogenic	2	108897060	108897061	Human	1	name
12895105	CV405283	indel	NM_022336.4(EDAR):c.883_889delinsTGATGAGGAGCCCG (p.Gln295_Ser297delinsTer)	not provided [RCV000485277]	pathogenic	2	108907934	108907940	Human		name
155929961	CV2067215	insertion	NM_022336.4(EDAR):c.202_203insGCTACGGCACCAAAGACGAAG (p.Glu67_Asp68insGlyTyrGlyThrLysAspGlu)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV002838714]	uncertain significance	2	108929351	108929352	Human	1	name
11550930	CV249812	single nucleotide variant	NM_145861.4(EDARADD):c.-3G>A	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000353307]\|Hypohidrotic ectodermal dysplasia [RCV001100438]\|not provided [RCV001683137]\|not specified [RCV000252386]	benign\|likely benign	1	236394442	236394442	Human	3	name
28881842	CV863969	single nucleotide variant	NM_145861.4(EDARADD):c.*12T>C	Hypohidrotic ectodermal dysplasia [RCV001096997]	uncertain significance	1	236482661	236482661	Human	2	name
11588582	CV279718	single nucleotide variant	NM_145861.4(EDARADD):c.*272G>A	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000304003]\|Hypohidrotic ectodermal dysplasia [RCV001097001]	uncertain significance	1	236482921	236482921	Human	3	name
11594153	CV279719	single nucleotide variant	NM_145861.4(EDARADD):c.*417G>A	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000356260]\|Hypohidrotic ectodermal dysplasia [RCV001097004]	benign\|uncertain significance	1	236483066	236483066	Human	3	name
11591603	CV279721	single nucleotide variant	NM_145861.4(EDARADD):c.*628G>A	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000330735]	uncertain significance	1	236483277	236483277	Human	1	name
11594616	CV280002	single nucleotide variant	NM_145861.4(EDARADD):c.*285G>A	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000361021]\|Hypohidrotic ectodermal dysplasia [RCV001097002]	benign\|uncertain significance	1	236482934	236482934	Human	3	name
11645137	CV280007	single nucleotide variant	NM_145861.4(EDARADD):c.*586T>C	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000263791]\|Hypohidrotic ectodermal dysplasia [RCV001098735]	uncertain significance	1	236483235	236483235	Human	3	name
11584797	CV280019	single nucleotide variant	NM_145861.4(EDARADD):c.*682G>A	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV000276600]\|not provided [RCV004710772]	likely benign	1	236483331	236483331	Human	1	name
11584006	CV280021	single nucleotide variant	NM_145861.4(EDARADD):c.*863C>T	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000270882]\|Hypohidrotic ectodermal dysplasia [RCV001100548]\|not provided [RCV004691200]	uncertain significance	1	236483512	236483512	Human	3	name
11650285	CV281323	single nucleotide variant	NM_145861.4(EDARADD):c.*100C>T	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000291908]\|Hypohidrotic ectodermal dysplasia [RCV001096998]	uncertain significance	1	236482749	236482749	Human	3	name
11657273	CV281327	single nucleotide variant	NM_145861.4(EDARADD):c.*115A>G	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000339894]\|Hypohidrotic ectodermal dysplasia [RCV001096999]	uncertain significance	1	236482764	236482764	Human	3	name
11597828	CV281330	single nucleotide variant	NM_145861.4(EDARADD):c.*195G>T	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000398160]\|Hypohidrotic ectodermal dysplasia [RCV001097000]	uncertain significance	1	236482844	236482844	Human	3	name
11591979	CV281331	single nucleotide variant	NM_145861.4(EDARADD):c.*719C>T	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000334007]\|Hypohidrotic ectodermal dysplasia [RCV001098736]	uncertain significance	1	236483368	236483368	Human	3	name
11596650	CV281333	single nucleotide variant	NM_145861.4(EDARADD):c.*967A>G	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000384811]\|Hypohidrotic ectodermal dysplasia [RCV001100553]	benign\|uncertain significance	1	236483616	236483616	Human	3	name
11648690	CV281339	single nucleotide variant	NM_145861.4(EDARADD):c.*971C>T	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000283309]\|Hypohidrotic ectodermal dysplasia [RCV001100554]	uncertain significance	1	236483620	236483620	Human	3	name
11651318	CV281524	single nucleotide variant	NM_145861.4(EDARADD):c.*354G>C	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000298052]\|Hypohidrotic ectodermal dysplasia [RCV001097003]	uncertain significance	1	236483003	236483003	Human	3	name
11595306	CV281531	single nucleotide variant	NM_145861.4(EDARADD):c.*678A>C	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV000369022]\|not provided [RCV004710771]	likely benign	1	236483327	236483327	Human	1	name
11596390	CV281532	single nucleotide variant	NM_145861.4(EDARADD):c.*746G>T	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000381618]\|Hypohidrotic ectodermal dysplasia [RCV001098737]	uncertain significance	1	236483395	236483395	Human	3	name
11655751	CV281534	single nucleotide variant	NM_145861.4(EDARADD):c.*921G>A	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000327972]\|Hypohidrotic ectodermal dysplasia [RCV001100550]	uncertain significance	1	236483570	236483570	Human	3	name
597759777	CV3712011	single nucleotide variant	NM_145861.4(EDARADD):c.61+1G>C	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV005018026]	likely pathogenic	1	236394506	236394506	Human	1	name
28887322	CV863970	single nucleotide variant	NM_145861.4(EDARADD):c.*558C>T	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001098734]	uncertain significance	1	236483207	236483207	Human	1	name
28887329	CV863971	single nucleotide variant	NM_145861.4(EDARADD):c.*757A>C	Hypohidrotic ectodermal dysplasia [RCV001098738]	uncertain significance	1	236483406	236483406	Human	2	name
28887332	CV863972	single nucleotide variant	NM_145861.4(EDARADD):c.*765G>A	Hypohidrotic ectodermal dysplasia [RCV001098739]	uncertain significance	1	236483414	236483414	Human	2	name
28892387	CV863973	single nucleotide variant	NM_145861.4(EDARADD):c.*920C>T	Hypohidrotic ectodermal dysplasia [RCV001100549]	uncertain significance	1	236483569	236483569	Human	2	name
28892391	CV863974	single nucleotide variant	NM_145861.4(EDARADD):c.*956C>T	Hypohidrotic ectodermal dysplasia [RCV001100551]	benign	1	236483605	236483605	Human	2	name
28892394	CV863975	single nucleotide variant	NM_145861.4(EDARADD):c.*966A>G	Hypohidrotic ectodermal dysplasia [RCV001100552]\|not provided [RCV004714183]	benign	1	236483615	236483615	Human	2	name
150496706	CV1245300	single nucleotide variant	NM_145861.4(EDARADD):c.62-41A>G	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV001661263]\|Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001661264]\|not provided [RCV001676068]	benign	1	236409175	236409175	Human	2	name
150469236	CV1249062	single nucleotide variant	NM_145861.4(EDARADD):c.*2113G>A	not provided [RCV001670823]	benign	1	236484762	236484762	Human		name
150449482	CV1260828	deletion	NM_145861.4(EDARADD):c.*2078del	not provided [RCV001680497]	benign	1	236484709	236484709	Human		name
150449803	CV1273681	duplication	NM_145861.4(EDARADD):c.*2078dup	not provided [RCV001691781]	benign	1	236484708	236484709	Human		name
150499826	CV1283019	deletion	NM_145861.4(EDARADD):c.161-6del	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003771865]\|not provided [RCV001718265]	benign	1	236427376	236427376	Human	1	name
150540467	CV1314592	single nucleotide variant	NM_145861.4(EDARADD):c.161-2A>G	not specified [RCV002246500]	likely pathogenic\|uncertain significance	1	236427390	236427390	Human		name
152157527	CV1630576	duplication	NM_145861.4(EDARADD):c.161-6dup	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV002122630]	benign	1	236427375	236427376	Human	1	name
11531305	CV247504	single nucleotide variant	NM_145861.4(EDARADD):c.120+1G>A	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [RCV000239464]	pathogenic	1	236409275	236409275	Human	1	name
11657369	CV279724	single nucleotide variant	NM_145861.4(EDARADD):c.*1149G>A	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000340693]\|Hypohidrotic ectodermal dysplasia [RCV001102496]	uncertain significance	1	236483798	236483798	Human	3	name
11588130	CV279731	single nucleotide variant	NM_145861.4(EDARADD):c.*1562T>C	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000300675]\|Hypohidrotic ectodermal dysplasia [RCV001097089]\|not provided [RCV001612925]	benign\|likely benign	1	236484211	236484211	Human	3	name
11595425	CV279733	single nucleotide variant	NM_145861.4(EDARADD):c.*1738A>G	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000370341]\|Hypohidrotic ectodermal dysplasia [RCV001098844]	uncertain significance	1	236484387	236484387	Human	3	name
11583757	CV279734	single nucleotide variant	NM_145861.4(EDARADD):c.*1787C>T	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000268785]\|Hypohidrotic ectodermal dysplasia [RCV001098845]\|not provided [RCV001612926]	benign\|likely benign	1	236484436	236484436	Human	3	name
11589007	CV279736	single nucleotide variant	NM_145861.4(EDARADD):c.*1809C>T	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000307413]\|Hypohidrotic ectodermal dysplasia [RCV001098847]	uncertain significance	1	236484458	236484458	Human	3	name
11593401	CV280030	single nucleotide variant	NM_145861.4(EDARADD):c.*1593G>T	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000348580]\|Hypohidrotic ectodermal dysplasia [RCV001097090]\|not provided [RCV001668648]	benign\|likely benign	1	236484242	236484242	Human	3	name
11581917	CV280048	single nucleotide variant	NM_145861.4(EDARADD):c.*1601C>A	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000389958]\|Hypohidrotic ectodermal dysplasia [RCV001097091]\|not provided [RCV001597038]	benign\|likely benign	1	236484250	236484250	Human	3	name
11589798	CV280049	single nucleotide variant	NM_145861.4(EDARADD):c.*1601C>G	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000313375]\|Hypohidrotic ectodermal dysplasia [RCV001097092]\|not provided [RCV001668649]	benign\|likely benign	1	236484250	236484250	Human	3	name
11660152	CV280051	single nucleotide variant	NM_145861.4(EDARADD):c.*1871C>T	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000364479]\|Hypohidrotic ectodermal dysplasia [RCV001098848]	uncertain significance	1	236484520	236484520	Human	3	name
11590585	CV280061	single nucleotide variant	NM_145861.4(EDARADD):c.*1985A>G	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000320698]\|Hypohidrotic ectodermal dysplasia [RCV001100661]	uncertain significance	1	236484634	236484634	Human	3	name
11583480	CV280062	single nucleotide variant	NM_145861.4(EDARADD):c.*2052C>T	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000266882]\|Hypohidrotic ectodermal dysplasia [RCV001100664]	uncertain significance	1	236484701	236484701	Human	3	name
11660974	CV280064	deletion	NM_145861.4(EDARADD):c.*2059del	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000371747]	uncertain significance	1	236484708	236484708	Human	1	name
11596185	CV281345	single nucleotide variant	NM_145861.4(EDARADD):c.*1438C>T	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000379160]\|Hypohidrotic ectodermal dysplasia [RCV001102501]	likely benign\|uncertain significance	1	236484087	236484087	Human	3	name
11656679	CV281348	single nucleotide variant	NM_145861.4(EDARADD):c.*1508C>T	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000335136]\|Hypohidrotic ectodermal dysplasia [RCV001097087]	uncertain significance	1	236484157	236484157	Human	3	name
11661577	CV281355	single nucleotide variant	NM_145861.4(EDARADD):c.*2018C>G	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000377749]\|Hypohidrotic ectodermal dysplasia [RCV001100663]	uncertain significance	1	236484667	236484667	Human	3	name
11649410	CV281538	duplication	NM_145861.4(EDARADD):c.*1459dup	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000286993]	uncertain significance	1	236484107	236484108	Human	1	name
11597738	CV281540	single nucleotide variant	NM_145861.4(EDARADD):c.*1535C>T	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000397258]\|Hypohidrotic ectodermal dysplasia [RCV001097088]	uncertain significance	1	236484184	236484184	Human	3	name
11584297	CV281543	single nucleotide variant	NM_145861.4(EDARADD):c.*1887G>A	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000272688]\|Hypohidrotic ectodermal dysplasia [RCV001098849]	benign\|uncertain significance	1	236484536	236484536	Human	3	name
11655222	CV281545	duplication	NM_145861.4(EDARADD):c.*2058dup	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000324071]	uncertain significance	1	236484706	236484707	Human	1	name
405018904	CV3094151	single nucleotide variant	NM_145861.4(EDARADD):c.62-18T>C	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003785001]	likely benign	1	236409198	236409198	Human	1	name
28892399	CV863976	single nucleotide variant	NM_145861.4(EDARADD):c.*1004G>A	Hypohidrotic ectodermal dysplasia [RCV001100555]	uncertain significance	1	236483653	236483653	Human	2	name
28897160	CV863977	single nucleotide variant	NM_145861.4(EDARADD):c.*1012A>G	Hypohidrotic ectodermal dysplasia [RCV001102494]	uncertain significance	1	236483661	236483661	Human	2	name
28897162	CV863978	single nucleotide variant	NM_145861.4(EDARADD):c.*1072C>T	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001102495]	uncertain significance	1	236483721	236483721	Human	1	name
28897167	CV863979	single nucleotide variant	NM_145861.4(EDARADD):c.*1174A>G	Hypohidrotic ectodermal dysplasia [RCV001102497]\|not provided [RCV004714187]	benign	1	236483823	236483823	Human	2	name
28897172	CV863980	single nucleotide variant	NM_145861.4(EDARADD):c.*1250C>T	Hypohidrotic ectodermal dysplasia [RCV001102498]	uncertain significance	1	236483899	236483899	Human	2	name
28897176	CV863981	single nucleotide variant	NM_145861.4(EDARADD):c.*1262C>T	Hypohidrotic ectodermal dysplasia [RCV001102499]	uncertain significance	1	236483911	236483911	Human	2	name
28897180	CV863982	single nucleotide variant	NM_145861.4(EDARADD):c.*1303T>G	Hypohidrotic ectodermal dysplasia [RCV001102500]	uncertain significance	1	236483952	236483952	Human	2	name
28882141	CV863983	single nucleotide variant	NM_145861.4(EDARADD):c.*1613T>C	Hypohidrotic ectodermal dysplasia [RCV001097093]\|not provided [RCV001720274]	pathogenic\|benign	1	236484262	236484262	Human	2	name
28882149	CV863984	single nucleotide variant	NM_145861.4(EDARADD):c.*1722C>T	Hypohidrotic ectodermal dysplasia [RCV001097094]	benign	1	236484371	236484371	Human	2	name
28887665	CV863985	single nucleotide variant	NM_145861.4(EDARADD):c.*1723G>A	Hypohidrotic ectodermal dysplasia [RCV001098843]	uncertain significance	1	236484372	236484372	Human	2	name
28887674	CV863986	single nucleotide variant	NM_145861.4(EDARADD):c.*1788G>A	Hypohidrotic ectodermal dysplasia [RCV001098846]	uncertain significance	1	236484437	236484437	Human	2	name
28887683	CV863987	single nucleotide variant	NM_145861.4(EDARADD):c.*1962C>T	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001098850]\|not provided [RCV004691355]	uncertain significance	1	236484611	236484611	Human	1	name
28892659	CV863988	single nucleotide variant	NM_145861.4(EDARADD):c.*2008G>A	Hypohidrotic ectodermal dysplasia [RCV001100662]	uncertain significance	1	236484657	236484657	Human	2	name
28892118	CV865147	single nucleotide variant	NM_145861.4(EDARADD):c.120+7G>A	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003117751]\|Hypohidrotic ectodermal dysplasia [RCV001100442]	benign	1	236409281	236409281	Human	3	name
28892122	CV865148	single nucleotide variant	NM_145861.4(EDARADD):c.121-6C>G	Hypohidrotic ectodermal dysplasia [RCV001100443]	uncertain significance	1	236414254	236414254	Human	2	name
150511256	CV1212685	single nucleotide variant	NM_145861.4(EDARADD):c.219+66T>G	not provided [RCV001597916]	benign	1	236427516	236427516	Human		name
150506236	CV1226296	single nucleotide variant	NM_145861.4(EDARADD):c.161-63C>T	not provided [RCV001635664]	benign	1	236427329	236427329	Human		name
150461380	CV1231469	single nucleotide variant	NM_145861.4(EDARADD):c.62-263T>G	not provided [RCV001641036]	benign	1	236408953	236408953	Human		name
150484228	CV1245253	duplication	NM_145861.4(EDARADD):c.62-129dup	not provided [RCV001653430]	benign	1	236409068	236409069	Human		name
150482129	CV1245301	single nucleotide variant	NM_145861.4(EDARADD):c.161-33G>C	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV001661265]\|Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001661266]\|not provided [RCV001673227]	benign	1	236427359	236427359	Human	2	name
150441170	CV1267031	single nucleotide variant	NM_145861.4(EDARADD):c.61+118G>T	not provided [RCV001690467]	benign	1	236394623	236394623	Human		name
150515847	CV1285677	single nucleotide variant	NM_145861.4(EDARADD):c.62-127G>A	not provided [RCV001723130]	benign	1	236409089	236409089	Human		name
152111848	CV1634982	single nucleotide variant	NM_145861.4(EDARADD):c.121-19C>T	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV002096958]\|not provided [RCV004715589]	benign	1	236414241	236414241	Human	1	name
11545022	CV249814	single nucleotide variant	NM_145861.4(EDARADD):c.161-13T>C	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV002518659]\|Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000293938]\|Hypohidrotic ectodermal dysplasia [RCV001100444]\|not specified [RCV000244576]	benign\|likely benign\|uncertain significance	1	236427379	236427379	Human	4	name
11656358	CV281519	single nucleotide variant	NM_145861.4(EDARADD):c.220-15C>T	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000332712]\|Hypohidrotic ectodermal dysplasia [RCV001102396]	uncertain significance	1	236468216	236468216	Human	3	name
597930204	CV3879288	single nucleotide variant	NM_145861.4(EDARADD):c.120+20C>T	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV005224785]	likely benign	1	236409294	236409294	Human	1	name
13436998	CV433521	single nucleotide variant	NM_145861.4(EDARADD):c.61+123G>A	not provided [RCV001683534]\|not specified [RCV000508121]	benign	1	236394628	236394628	Human		name
15108251	CV778812	single nucleotide variant	NM_145861.4(EDARADD):c.120+10A>G	not provided [RCV000960448]	likely benign	1	236409284	236409284	Human		name
150508011	CV1213916	single nucleotide variant	NM_145861.4(EDARADD):c.61+1091C>T	not provided [RCV001596437]	likely benign	1	236395596	236395596	Human		name
150472221	CV1217145	single nucleotide variant	NM_145861.4(EDARADD):c.161-195C>G	not provided [RCV001615440]	benign	1	236427197	236427197	Human		name
150481809	CV1222227	single nucleotide variant	NM_145861.4(EDARADD):c.160+247G>A	not provided [RCV001617025]	benign	1	236414546	236414546	Human		name
150463110	CV1235008	single nucleotide variant	NM_145861.4(EDARADD):c.266-127C>T	not provided [RCV001649590]	benign	1	236482140	236482140	Human		name
150490374	CV1239104	single nucleotide variant	NM_145861.4(EDARADD):c.266-221C>T	not provided [RCV001654672]	benign	1	236482046	236482046	Human		name
150468156	CV1269351	duplication	NM_145861.4(EDARADD):c.160+169dup	not provided [RCV001694759]	benign	1	236414462	236414463	Human		name
150465628	CV1277270	single nucleotide variant	NM_145861.4(EDARADD):c.121-210T>C	not provided [RCV001710564]	benign	1	236414050	236414050	Human		name
150482749	CV1280052	single nucleotide variant	NM_145861.4(EDARADD):c.160+163C>T	not provided [RCV001715072]	benign	1	236414462	236414462	Human		name
150511890	CV1284809	single nucleotide variant	NM_145861.4(EDARADD):c.61+1244G>A	not provided [RCV001721678]	benign	1	236395749	236395749	Human		name
150515501	CV1285562	single nucleotide variant	NM_145861.4(EDARADD):c.160+162T>C	not provided [RCV001723015]	benign	1	236414461	236414461	Human		name
150515607	CV1285598	single nucleotide variant	NM_145861.4(EDARADD):c.160+201G>A	not provided [RCV001723051]	benign	1	236414500	236414500	Human		name
150515628	CV1285606	single nucleotide variant	NM_145861.4(EDARADD):c.219+253T>A	not provided [RCV001723059]	benign	1	236427703	236427703	Human		name
150515751	CV1285646	single nucleotide variant	NM_145861.4(EDARADD):c.120+270T>G	not provided [RCV001723099]	benign	1	236409544	236409544	Human		name
150515824	CV1285670	single nucleotide variant	NM_145861.4(EDARADD):c.161-129C>T	not provided [RCV001723123]	benign	1	236427263	236427263	Human		name
11663918	CV280004	deletion	NM_145861.4(EDARADD):c.351_352del	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000400334]	uncertain significance	1	236482999	236483000	Human	1	name
156037183	CV1932834	deletion	NM_145861.4(EDARADD):c.161-17_161-15del	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV002637424]	likely benign	1	236427373	236427375	Human	1	name
13622865	CV515626	single nucleotide variant	NM_145861.4(EDARADD):c.393G>A (p.Pro131=)	EDARADD-related disorder [RCV003953175]\|Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV000650286]\|Hypohidrotic ectodermal dysplasia [RCV001102400]	benign\|likely benign	1	236482394	236482394	Human	4	name , trait , alternate_id
15122667	CV732288	single nucleotide variant	NM_145861.4(EDARADD):c.15G>A (p.Thr5=)	not provided [RCV000896277]	likely benign	1	236394459	236394459	Human		name
11580013	CV266292	single nucleotide variant	NM_145861.4(EDARADD):c.60G>A (p.Glu20=)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV000527781]\|Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000319731]\|Hypohidrotic ectodermal dysplasia [RCV001100440]\|not provided [RCV004710689]\|not specified [RCV000289423]	benign\|likely benign	1	236394504	236394504	Human	4	name
156359736	CV1891537	single nucleotide variant	NM_145861.4(EDARADD):c.147G>A (p.Thr49=)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003091622]	likely benign	1	236414286	236414286	Human	1	name
155974832	CV2031853	single nucleotide variant	NM_145861.4(EDARADD):c.22C>G (p.Gln8Glu)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV002755053]	uncertain significance	1	236394466	236394466	Human	1	name
11548622	CV249813	single nucleotide variant	NM_145861.4(EDARADD):c.27G>A (p.Met9Ile)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV001519825]\|Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV001660364]\|Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001660365]\|Hypohidrotic Ectodermal Dyspl ... (more) asia, Recessive [RCV000262285]\|Hypohidrotic ectodermal dysplasia [RCV001100439]\|not provided [RCV001711743]\|not specified [RCV000249322]	benign	1	236394471	236394471	Human	5	name
15118474	CV746305	single nucleotide variant	NM_145861.4(EDARADD):c.246C>T (p.Ser82=)	not provided [RCV000917982]	likely benign	1	236468257	236468257	Human		name
11545098	CV249816	single nucleotide variant	NM_145861.4(EDARADD):c.369C>T (p.Asp123=)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV001514564]\|Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000288299]\|Hypohidrotic ectodermal dysplasia [RCV001102399]\|not provided [RCV001706386]\|not specified [RCV000244680]	benign\|likely benign	1	236482370	236482370	Human	4	name
11582103	CV281523	single nucleotide variant	NM_145861.4(EDARADD):c.600C>T (p.Asp200=)	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000398173]\|Hypohidrotic ectodermal dysplasia [RCV001102403]\|not provided [RCV000953992]	likely benign\|uncertain significance	1	236482601	236482601	Human	3	name
405064037	CV3108846	single nucleotide variant	NM_145861.4(EDARADD):c.570C>T (p.Asp190=)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003809256]	likely benign	1	236482571	236482571	Human	1	name
405710075	CV3225725	single nucleotide variant	NM_145861.4(EDARADD):c.80C>T (p.Pro27Leu)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003990783]	uncertain significance	1	236409234	236409234	Human	1	name
597922383	CV3867288	single nucleotide variant	NM_145861.4(EDARADD):c.53A>G (p.His18Arg)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV005223714]	uncertain significance	1	236394497	236394497	Human	1	name
598165780	CV3954062	single nucleotide variant	NM_145861.4(EDARADD):c.95A>G (p.Asp32Gly)	Inborn genetic diseases [RCV005329761]	uncertain significance	1	236409249	236409249	Human	1	name
15104278	CV780611	single nucleotide variant	NM_145861.4(EDARADD):c.360C>T (p.Asp120=)	not provided [RCV000976187]	likely benign	1	236482361	236482361	Human		name
42723644	CV984539	single nucleotide variant	NM_145861.4(EDARADD):c.85G>A (p.Glu29Lys)	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001291625]	pathogenic	1	236409239	236409239	Human	1	name
155720988	CV1781282	single nucleotide variant	NM_145861.4(EDARADD):c.148G>A (p.Glu50Lys)	not provided [RCV002306358]	uncertain significance	1	236414287	236414287	Human		name
156300292	CV1890845	single nucleotide variant	NM_145861.4(EDARADD):c.101G>A (p.Ser34Asn)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003087894]	uncertain significance	1	236409255	236409255	Human	1	name
156018160	CV1914692	single nucleotide variant	NM_145861.4(EDARADD):c.220G>A (p.Gly74Arg)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV002636575]\|Inborn genetic diseases [RCV005333532]	uncertain significance	1	236468231	236468231	Human	2	name
11580133	CV264009	single nucleotide variant	NM_145861.4(EDARADD):c.196C>T (p.Arg66Ter)	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [RCV003338495]\|not provided [RCV000323922]	pathogenic	1	236427427	236427427	Human	1	name
11581826	CV280000	single nucleotide variant	NM_145861.4(EDARADD):c.115A>G (p.Asn39Asp)	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000385891]\|Hypohidrotic ectodermal dysplasia [RCV001100441]\|Inborn genetic diseases [RCV002520476]	likely benign\|uncertain significance	1	236409269	236409269	Human	4	name
405012295	CV3096722	single nucleotide variant	NM_145861.4(EDARADD):c.154C>T (p.Pro52Ser)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003794711]	uncertain significance	1	236414293	236414293	Human	1	name
405767118	CV3248192	single nucleotide variant	NM_145861.4(EDARADD):c.104C>A (p.Thr35Asn)	Inborn genetic diseases [RCV004384485]	uncertain significance	1	236409258	236409258	Human	1	name
405767123	CV3248193	single nucleotide variant	NM_145861.4(EDARADD):c.254A>T (p.Asp85Val)	Inborn genetic diseases [RCV004384486]	uncertain significance	1	236468265	236468265	Human	1	name
13819156	CV556821	single nucleotide variant	NM_145861.4(EDARADD):c.199A>T (p.Asn67Tyr)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV000694162]	uncertain significance	1	236427430	236427430	Human	1	name
126741094	CV1015684	single nucleotide variant	NM_145861.4(EDARADD):c.440G>T (p.Gly147Val)	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001329605]	uncertain significance	1	236482441	236482441	Human	1	name
126921569	CV1039935	single nucleotide variant	NM_145861.4(EDARADD):c.568G>A (p.Asp190Asn)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV001363643]	uncertain significance	1	236482569	236482569	Human	1	name
8647114	CV106750	single nucleotide variant	NM_145861.4(EDARADD):c.587G>A (p.Arg196His)	Hypohidrotic ectodermal dysplasia [RCV001102402]\|not provided [RCV000087252]	uncertain significance	1	236482588	236482588	Human	2	name
151348520	CV1324072	single nucleotide variant	NM_145861.4(EDARADD):c.359A>C (p.Asp120Ala)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV001807985]	likely pathogenic	1	236482360	236482360	Human	1	name
151760937	CV1349446	single nucleotide variant	NM_145861.4(EDARADD):c.446C>T (p.Ser149Phe)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV001949132]	uncertain significance	1	236482447	236482447	Human	1	name
8557938	CV19227	single nucleotide variant	NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001729334]\|Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV004798715]\|Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [RCV000004407]	pathogenic\|likely pathogenic\|not provided	1	236482455	236482455	Human	3	name
8557939	CV19228	single nucleotide variant	NM_145861.4(EDARADD):c.365T>G (p.Leu122Arg)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV000055985]\|Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV000004408]	pathogenic\|not provided	1	236482366	236482366	Human	2	name
156033232	CV2214624	single nucleotide variant	NM_145861.4(EDARADD):c.623G>A (p.Arg208His)	Inborn genetic diseases [RCV002691734]	uncertain significance	1	236482624	236482624	Human	1	name
156299058	CV2325956	single nucleotide variant	NM_145861.4(EDARADD):c.370G>C (p.Val124Leu)	Inborn genetic diseases [RCV002936207]	uncertain significance	1	236482371	236482371	Human	1	name
401736800	CV2401932	single nucleotide variant	NM_145861.4(EDARADD):c.469G>A (p.Glu157Lys)	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [RCV003238157]	pathogenic	1	236482470	236482470	Human	1	name
329387895	CV2440208	single nucleotide variant	NM_145861.4(EDARADD):c.524C>T (p.Thr175Met)	Inborn genetic diseases [RCV003190341]	uncertain significance	1	236482525	236482525	Human	1	name
329356382	CV2460295	single nucleotide variant	NM_145861.4(EDARADD):c.448T>A (p.Tyr150Asn)	Inborn genetic diseases [RCV003203250]	uncertain significance	1	236482449	236482449	Human	1	name
11531349	CV247503	single nucleotide variant	NM_145861.4(EDARADD):c.367G>A (p.Asp123Asn)	ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT [RCV000239549]\|Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003765486]	pathogenic\|likely pathogenic	1	236482368	236482368	Human	2	name
11551310	CV249815	single nucleotide variant	NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV000534755]\|Ectodermal dysplasia [RCV005400721]\|Hypohidrotic ectodermal dysplasia [RCV001102398]\|not provided [RCV001705378]\|not specified [RCV000252874]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	236482309	236482309	Human	5	name
401736818	CV2672074	single nucleotide variant	NM_145861.4(EDARADD):c.439G>A (p.Gly147Arg)	not provided [RCV003238975]	uncertain significance	1	236482440	236482440	Human		name
401736827	CV2685525	single nucleotide variant	NM_145861.4(EDARADD):c.323G>A (p.Arg108Gln)	Inborn genetic diseases [RCV003249189]	uncertain significance	1	236482324	236482324	Human	1	name
401736840	CV2700648	single nucleotide variant	NM_145861.4(EDARADD):c.640C>T (p.His214Tyr)	Inborn genetic diseases [RCV003286970]	uncertain significance	1	236482641	236482641	Human	1	name
401898877	CV2792077	single nucleotide variant	NM_145861.4(EDARADD):c.394T>G (p.Cys132Gly)	Inborn genetic diseases [RCV003377036]	uncertain significance	1	236482395	236482395	Human	1	name
11580830	CV279711	single nucleotide variant	NM_145861.4(EDARADD):c.571G>T (p.Val191Leu)	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000345575]\|Hypohidrotic ectodermal dysplasia [RCV001102401]	uncertain significance	1	236482572	236482572	Human	3	name
11662802	CV281321	single nucleotide variant	NM_145861.4(EDARADD):c.302C>T (p.Thr101Ile)	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000389636]\|Hypohidrotic ectodermal dysplasia [RCV001102397]	uncertain significance	1	236482303	236482303	Human	3	name
405177878	CV3101480	single nucleotide variant	NM_145861.4(EDARADD):c.404C>T (p.Thr135Met)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003803693]	uncertain significance	1	236482405	236482405	Human	1	name
405036666	CV3106226	single nucleotide variant	NM_145861.4(EDARADD):c.484A>G (p.Ser162Gly)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003796917]	uncertain significance	1	236482485	236482485	Human	1	name
405128267	CV3112150	single nucleotide variant	NM_145861.4(EDARADD):c.543G>T (p.Glu181Asp)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003815624]	uncertain significance	1	236482544	236482544	Human	1	name
405767128	CV3248194	single nucleotide variant	NM_145861.4(EDARADD):c.571G>A (p.Val191Met)	Inborn genetic diseases [RCV004384487]	uncertain significance	1	236482572	236482572	Human	1	name
597666439	CV3667411	single nucleotide variant	NM_145861.4(EDARADD):c.322C>T (p.Arg108Trp)	Inborn genetic diseases [RCV004979507]	uncertain significance	1	236482323	236482323	Human	1	name
597666444	CV3667412	single nucleotide variant	NM_145861.4(EDARADD):c.461G>A (p.Cys154Tyr)	Inborn genetic diseases [RCV004979508]	uncertain significance	1	236482462	236482462	Human	1	name
597714868	CV3712015	single nucleotide variant	NM_145861.4(EDARADD):c.358G>C (p.Asp120His)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV005010113]	uncertain significance	1	236482359	236482359	Human	1	name
598165775	CV3954061	single nucleotide variant	NM_145861.4(EDARADD):c.616C>T (p.Arg206Trp)	Inborn genetic diseases [RCV005329760]	uncertain significance	1	236482617	236482617	Human	1	name
13476349	CV442753	single nucleotide variant	NM_145861.4(EDARADD):c.389A>G (p.Asp130Gly)	not provided [RCV000520125]	likely pathogenic	1	236482390	236482390	Human		name
13476976	CV447817	single nucleotide variant	NM_145861.4(EDARADD):c.417G>A (p.Trp139Ter)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV000549383]	pathogenic\|likely pathogenic	1	236482418	236482418	Human	1	name
13622866	CV515629	single nucleotide variant	NM_145861.4(EDARADD):c.509G>A (p.Arg170Gln)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV000650285]\|Inborn genetic diseases [RCV003278973]\|not provided [RCV003144446]	uncertain significance	1	236482510	236482510	Human	2	name
21072582	CV794617	single nucleotide variant	NM_145861.4(EDARADD):c.488C>A (p.Pro163His)	not provided [RCV000994290]	uncertain significance	1	236482489	236482489	Human		name
26890312	CV823611	single nucleotide variant	NM_145861.4(EDARADD):c.392C>T (p.Pro131Leu)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV001045968]\|not provided [RCV002284457]	likely pathogenic\|uncertain significance	1	236482393	236482393	Human	1	name
40903640	CV917747	single nucleotide variant	NM_145861.4(EDARADD):c.413A>T (p.Asn138Ile)	Tooth agenesis [RCV001269383]	likely pathogenic	1	236482414	236482414	Human	2	name
42723645	CV984540	single nucleotide variant	NM_145861.4(EDARADD):c.570C>A (p.Asp190Glu)	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive [RCV001291626]	pathogenic	1	236482571	236482571	Human	1	name
13516332	CV493538	microsatellite	NM_145861.4(EDARADD):c.595_598del (p.Val199fs)	not provided [RCV000595397]	uncertain significance	1	236482591	236482594	Human		name
10401403	CV205131	insertion	NM_145861.4(EDARADD):c.299_300insAAC (p.Cys100Ter)	not specified [RCV000190579]	uncertain significance	1	236482300	236482301	Human		name
151767181	CV1341446	indel	NM_145861.4(EDARADD):c.358_359delinsAT (p.Asp120Ile)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV001874086]	uncertain significance	1	236482359	236482360	Human		name
8573358	CV76662	deletion	NM_145861.4(EDARADD):c.402_407del (p.Thr135_Val136del)	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant [RCV001729373]	pathogenic\|not provided	1	236482403	236482408	Human	1	name
405128277	CV3112151	deletion	NM_145861.4(EDARADD):c.548_549del (p.Leu182_Cys183insTer)	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant [RCV003815625]	uncertain significance	1	236482549	236482550	Human	1	name

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