Edaradd Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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162 records found for search term Edaradd

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
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
15122667	CV732288	single nucleotide variant	NM_145861.4(EDARADD):c.15G>A (p.Thr5=)	not provided [RCV000896277]	likely benign	1	236394459	236394459	Human		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
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
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
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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