Eda Variant Search Result - Rat Genome Database

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1001 records found for search term Eda

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8562116	CV26082	deletion	EDA, 1-BP DEL, EX6	Hypohidrotic X-linked ectodermal dysplasia [RCV000011790]	pathogenic				Human	1	name
8562115	CV26081	deletion	EDA, 36-BP DEL, EX5	Hypohidrotic X-linked ectodermal dysplasia [RCV000011789]	pathogenic				Human	1	name
150473641	CV1262936	single nucleotide variant	NM_001399.5(EDA):c.*34C>T	not provided [RCV001684752]	benign	X	70035643	70035643	Human		name
151350409	CV1325582	single nucleotide variant	NM_001399.5(EDA):c.-80G>T	not provided [RCV001814869]	uncertain significance	X	69616229	69616229	Human		name
598126186	CV3881809	single nucleotide variant	NM_001399.5(EDA):c.*384C>T	not provided [RCV005233361]	uncertain significance	X	70035993	70035993	Human		name
126914997	CV1052523	single nucleotide variant	NM_001399.5(EDA):c.924+8C>A	Hypohidrotic X-linked ectodermal dysplasia [RCV001370663]	conflicting interpretations of pathogenicity\|uncertain significance	X	70033536	70033536	Human	1	name
127320292	CV1129877	single nucleotide variant	NM_001399.5(EDA):c.396+9C>T	Hypohidrotic X-linked ectodermal dysplasia [RCV001466873]	likely benign	X	69616713	69616713	Human	1	name
127311526	CV1129878	single nucleotide variant	NM_001399.5(EDA):c.503-8T>C	Hypohidrotic X-linked ectodermal dysplasia [RCV001456924]	likely benign	X	70023210	70023210	Human	1	name
127303423	CV1129879	single nucleotide variant	NM_001399.5(EDA):c.503-5T>C	Hypohidrotic X-linked ectodermal dysplasia [RCV001454742]	likely benign	X	70023213	70023213	Human	1	name
127294126	CV1129880	single nucleotide variant	NM_001399.5(EDA):c.741+5G>T	Hypohidrotic X-linked ectodermal dysplasia [RCV001459353]	likely benign	X	70029543	70029543	Human	1	name
127314783	CV1150908	single nucleotide variant	NM_001399.5(EDA):c.707-9A>G	Hypohidrotic X-linked ectodermal dysplasia [RCV001482338]	likely benign	X	70029495	70029495	Human	1	name
127301251	CV1159792	single nucleotide variant	NM_001399.5(EDA):c.741+9G>A	Hypohidrotic X-linked ectodermal dysplasia [RCV001514573]	benign	X	70029547	70029547	Human	1	name
150333781	CV1174948	single nucleotide variant	NM_001399.5(EDA):c.707-2A>T	Hypohidrotic X-linked ectodermal dysplasia [RCV001543632]	pathogenic	X	70029502	70029502	Human	1	name
150540464	CV1314589	single nucleotide variant	NM_001399.5(EDA):c.741+2T>C	not provided [RCV001781022]	likely pathogenic	X	70029540	70029540	Human		name
151889777	CV1343464	single nucleotide variant	NM_001399.5(EDA):c.924+1G>A	Hypohidrotic X-linked ectodermal dysplasia [RCV001942878]	pathogenic	X	70033529	70033529	Human	1	name
151750297	CV1357419	single nucleotide variant	NM_001399.5(EDA):c.526+1G>A	Hypohidrotic X-linked ectodermal dysplasia [RCV001872188]	pathogenic	X	70023242	70023242	Human	1	name
151886873	CV1471823	single nucleotide variant	NM_001399.5(EDA):c.794-1G>A	Hypohidrotic X-linked ectodermal dysplasia [RCV002000768]	likely pathogenic	X	70033397	70033397	Human	1	name
152052510	CV1581083	single nucleotide variant	NM_001399.5(EDA):c.925-6A>G	Hypohidrotic X-linked ectodermal dysplasia [RCV002089334]	likely benign	X	70035352	70035352	Human	1	name
152079405	CV1596896	single nucleotide variant	NM_001399.5(EDA):c.527-7T>C	Hypohidrotic X-linked ectodermal dysplasia [RCV002092650]	likely benign	X	70027850	70027850	Human	1	name
152125711	CV1646222	single nucleotide variant	NM_001399.5(EDA):c.924+9G>C	Hypohidrotic X-linked ectodermal dysplasia [RCV002217373]	likely benign	X	70033537	70033537	Human	1	name
152124450	CV1660558	single nucleotide variant	NM_001399.5(EDA):c.707-5T>C	Hypohidrotic X-linked ectodermal dysplasia [RCV002154680]	likely benign	X	70029499	70029499	Human	1	name
152977962	CV1671323	single nucleotide variant	NM_001399.5(EDA):c.706+1G>C	Hypohidrotic X-linked ectodermal dysplasia [RCV002226997]	pathogenic	X	70028037	70028037	Human	1	name
9690470	CV176324	single nucleotide variant	NM_001399.5(EDA):c.396+2T>G	Hypohidrotic X-linked ectodermal dysplasia [RCV000156149]	pathogenic	X	69616706	69616706	Human	1	name
9690746	CV176325	single nucleotide variant	NM_001399.5(EDA):c.502+1G>A	Hypohidrotic X-linked ectodermal dysplasia [RCV000156436]	pathogenic	X	69957133	69957133	Human	1	name
9690043	CV176446	single nucleotide variant	NM_001399.5(EDA):c.396+1G>A	Hypohidrotic X-linked ectodermal dysplasia [RCV000155689]	pathogenic	X	69616705	69616705	Human	1	name
10047517	CV190369	single nucleotide variant	NM_001399.5(EDA):c.396+2T>C	not provided [RCV000173251]	pathogenic	X	69616706	69616706	Human		name
155944522	CV2003086	single nucleotide variant	NM_001399.5(EDA):c.924+8C>T	Hypohidrotic X-linked ectodermal dysplasia [RCV002685667]	likely benign	X	70033536	70033536	Human	1	name
156194171	CV2066513	single nucleotide variant	NM_001399.5(EDA):c.397-6T>C	Hypohidrotic X-linked ectodermal dysplasia [RCV002828710]	likely benign	X	69957021	69957021	Human	1	name
11089750	CV231290	single nucleotide variant	NM_001399.5(EDA):c.527-6T>G	not specified [RCV000215203]	uncertain significance	X	70027851	70027851	Human		name
11560314	CV260338	single nucleotide variant	NM_001399.5(EDA):c.706+1G>A	Hypohidrotic X-linked ectodermal dysplasia [RCV000525670]\|not provided [RCV000256169]	pathogenic\|likely pathogenic	X	70028037	70028037	Human	1	name
11560005	CV260339	single nucleotide variant	NM_001399.5(EDA):c.707-1G>A	not provided [RCV000255473]	pathogenic	X	70029503	70029503	Human		name
405073530	CV2859514	single nucleotide variant	NM_001399.5(EDA):c.397-1G>C	Hypohidrotic X-linked ectodermal dysplasia [RCV003523997]	pathogenic	X	69957026	69957026	Human	1	name
404988029	CV2921880	single nucleotide variant	NM_001399.5(EDA):c.707-7T>C	Hypohidrotic X-linked ectodermal dysplasia [RCV003524748]	likely benign	X	70029497	70029497	Human	1	name
405056615	CV2928485	single nucleotide variant	NM_001399.5(EDA):c.924+4A>T	Hypohidrotic X-linked ectodermal dysplasia [RCV003522618]	pathogenic	X	70033532	70033532	Human	1	name
405182824	CV2982399	single nucleotide variant	NM_001399.5(EDA):c.397-2A>T	Hypohidrotic X-linked ectodermal dysplasia [RCV003639871]	pathogenic\|likely pathogenic	X	69957025	69957025	Human	1	name
405186233	CV3016563	single nucleotide variant	NM_001399.5(EDA):c.527-9A>G	Hypohidrotic X-linked ectodermal dysplasia [RCV003640259]	likely benign	X	70027848	70027848	Human	1	name
405186803	CV3017862	single nucleotide variant	NM_001399.5(EDA):c.706+8C>A	Hypohidrotic X-linked ectodermal dysplasia [RCV003640325]	likely benign	X	70028044	70028044	Human	1	name
405171135	CV3049203	single nucleotide variant	NM_001399.5(EDA):c.794-7T>C	Hypohidrotic X-linked ectodermal dysplasia [RCV003638518]	likely benign	X	70033391	70033391	Human	1	name
404977910	CV3127294	single nucleotide variant	NM_001399.5(EDA):c.924+9G>A	Hypohidrotic X-linked ectodermal dysplasia [RCV003825518]	likely benign	X	70033537	70033537	Human	1	name
408381168	CV3522513	single nucleotide variant	NM_001399.5(EDA):c.502+2T>C	not provided [RCV004767873]	uncertain significance	X	69957134	69957134	Human		name
597881389	CV3857463	single nucleotide variant	NM_001399.5(EDA):c.742-2A>G	Hypohidrotic X-linked ectodermal dysplasia [RCV005199080]	pathogenic	X	70030467	70030467	Human	1	name
8607014	CV53363	single nucleotide variant	NM_001399.5(EDA):c.526+5G>T	Hypohidrotic X-linked ectodermal dysplasia [RCV000037174]	likely pathogenic	X	70023246	70023246	Human	1	name
13814431	CV573965	single nucleotide variant	NM_001399.5(EDA):c.526+5G>A	Hypohidrotic X-linked ectodermal dysplasia [RCV000705031]	likely pathogenic	X	70023246	70023246	Human	1	name
13812166	CV573970	single nucleotide variant	NM_001399.5(EDA):c.527-2A>T	Hypohidrotic X-linked ectodermal dysplasia [RCV000689256]	pathogenic	X	70027855	70027855	Human	1	name
13822255	CV574870	duplication	NM_001399.5(EDA):c.396+4dup	Hypohidrotic X-linked ectodermal dysplasia [RCV000697029]	pathogenic	X	69616707	69616708	Human	1	name
14708315	CV653469	deletion	NM_001399.5(EDA):c.503-2del	Hypohidrotic X-linked ectodermal dysplasia [RCV000809260]	likely pathogenic	X	70023216	70023216	Human	1	name
14708652	CV653539	single nucleotide variant	NM_001399.5(EDA):c.706+5G>T	Hypohidrotic X-linked ectodermal dysplasia [RCV000810069]	pathogenic	X	70028041	70028041	Human	1	name
14705060	CV653718	single nucleotide variant	NM_001399.5(EDA):c.526+5G>C	Hypohidrotic X-linked ectodermal dysplasia [RCV000799606]	pathogenic\|uncertain significance	X	70023246	70023246	Human	1	name
15133987	CV776927	single nucleotide variant	NM_001399.5(EDA):c.503-4A>C	Hypohidrotic X-linked ectodermal dysplasia [RCV001470679]	likely benign	X	70023214	70023214	Human	1	name
21074964	CV798820	deletion	NM_001399.5(EDA):c.526+1del	Hypohidrotic X-linked ectodermal dysplasia [RCV000995764]	likely pathogenic	X	70023240	70023240	Human	1	name
26919398	CV853044	single nucleotide variant	NM_001399.5(EDA):c.396+5G>C	Hypohidrotic X-linked ectodermal dysplasia [RCV001058930]	uncertain significance	X	69616709	69616709	Human	1	name
38489074	CV941314	single nucleotide variant	NM_001399.5(EDA):c.924+5G>A	Hypohidrotic X-linked ectodermal dysplasia [RCV001221516]	uncertain significance	X	70033533	70033533	Human	1	name
127302547	CV1159790	single nucleotide variant	NM_001399.5(EDA):c.502+10C>T	Hypohidrotic X-linked ectodermal dysplasia [RCV001515102]	benign	X	69957142	69957142	Human	1	name
127318320	CV1159791	single nucleotide variant	NM_001399.5(EDA):c.526+10T>G	Hypohidrotic X-linked ectodermal dysplasia [RCV001521579]	benign	X	70023251	70023251	Human	1	name
150481634	CV1209826	single nucleotide variant	NM_001399.5(EDA):c.707-13T>G	EDA-related disorder [RCV003399399]\|Hypohidrotic X-linked ectodermal dysplasia [RCV001866231]\|not provided [RCV001590523]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	X	70029491	70029491	Human	1	name , alternate_id
150513197	CV1228929	single nucleotide variant	NM_001399.5(EDA):c.794-11C>T	Hypohidrotic X-linked ectodermal dysplasia [RCV003523101]\|not provided [RCV001637771]	benign\|likely benign	X	70033387	70033387	Human	1	name
150513344	CV1228978	single nucleotide variant	NM_001399.5(EDA):c.741+47G>C	not provided [RCV001637820]	benign	X	70029585	70029585	Human		name
150431304	CV1243651	single nucleotide variant	NM_001399.5(EDA):c.924+45G>A	not provided [RCV001663271]	benign	X	70033573	70033573	Human		name
150499821	CV1283018	single nucleotide variant	NM_001399.5(EDA):c.924+38G>A	not provided [RCV001718264]	benign	X	70033566	70033566	Human		name
150511959	CV1284827	duplication	NM_001399.5(EDA):c.527-25dup	not provided [RCV001721696]	benign	X	70027822	70027823	Human		name
150515810	CV1285665	single nucleotide variant	NM_001399.5(EDA):c.526+27T>A	not provided [RCV001723118]	benign	X	70023268	70023268	Human		name
9690544	CV176326	single nucleotide variant	NM_001399.5(EDA):c.742-18T>G	not specified [RCV000156226]	uncertain significance	X	70030451	70030451	Human		name
9690394	CV176449	single nucleotide variant	NM_001399.5(EDA):c.742-14T>G	not provided [RCV004017434]	uncertain significance	X	70030455	70030455	Human		name
156379152	CV1876823	deletion	NM_001399.5(EDA):c.793+19del	Hypohidrotic X-linked ectodermal dysplasia [RCV003067016]	likely benign	X	70030539	70030539	Human	1	name
155983051	CV2070213	single nucleotide variant	NM_001399.5(EDA):c.793+10A>G	Hypohidrotic X-linked ectodermal dysplasia [RCV002842615]	likely benign	X	70030530	70030530	Human	1	name
156281098	CV2074824	single nucleotide variant	NM_001399.5(EDA):c.924+20T>G	Hypohidrotic X-linked ectodermal dysplasia [RCV002856386]	likely benign	X	70033548	70033548	Human	1	name
405057970	CV2888824	single nucleotide variant	NM_001399.5(EDA):c.793+19T>C	Hypohidrotic X-linked ectodermal dysplasia [RCV003522606]	benign	X	70030539	70030539	Human	1	name
404989552	CV2889275	single nucleotide variant	NM_001399.5(EDA):c.741+18C>T	Hypohidrotic X-linked ectodermal dysplasia [RCV003524932]	likely benign	X	70029556	70029556	Human	1	name
405058021	CV2892631	single nucleotide variant	NM_001399.5(EDA):c.707-18T>G	Hypohidrotic X-linked ectodermal dysplasia [RCV003522601]	benign	X	70029486	70029486	Human	1	name
402490155	CV2900016	single nucleotide variant	NM_001399.5(EDA):c.502+16T>C	Hypohidrotic X-linked ectodermal dysplasia [RCV003523565]	likely benign	X	69957148	69957148	Human	1	name
405066840	CV2902833	single nucleotide variant	NM_001399.5(EDA):c.397-19G>A	Hypohidrotic X-linked ectodermal dysplasia [RCV003523556]	likely benign	X	69957008	69957008	Human	1	name
405065319	CV2905827	single nucleotide variant	NM_001399.5(EDA):c.706+13G>C	Hypohidrotic X-linked ectodermal dysplasia [RCV003523449]	likely benign	X	70028049	70028049	Human	1	name
405070477	CV2908071	single nucleotide variant	NM_001399.5(EDA):c.526+20A>C	Hypohidrotic X-linked ectodermal dysplasia [RCV003523785]	benign	X	70023261	70023261	Human	1	name
404987931	CV2911116	single nucleotide variant	NM_001399.5(EDA):c.397-12T>C	Hypohidrotic X-linked ectodermal dysplasia [RCV003524737]	likely benign	X	69957015	69957015	Human	1	name
405060972	CV2924124	single nucleotide variant	NM_001399.5(EDA):c.706+14T>C	Hypohidrotic X-linked ectodermal dysplasia [RCV003522866]	likely benign	X	70028050	70028050	Human	1	name
405059823	CV2933365	single nucleotide variant	NM_001399.5(EDA):c.925-13G>A	Hypohidrotic X-linked ectodermal dysplasia [RCV003522846]	likely benign	X	70035345	70035345	Human	1	name
405175013	CV2944169	single nucleotide variant	NM_001399.5(EDA):c.741+17T>C	Hypohidrotic X-linked ectodermal dysplasia [RCV003639014]	likely benign	X	70029555	70029555	Human	1	name
405181292	CV2964839	single nucleotide variant	NM_001399.5(EDA):c.503-13A>G	Hypohidrotic X-linked ectodermal dysplasia [RCV003639677]	benign	X	70023205	70023205	Human	1	name
405183516	CV2989995	deletion	NM_001399.5(EDA):c.527-18del	Hypohidrotic X-linked ectodermal dysplasia [RCV003639935]	likely benign	X	70027839	70027839	Human	1	name
405167173	CV3026406	single nucleotide variant	NM_001399.5(EDA):c.793+20C>G	Hypohidrotic X-linked ectodermal dysplasia [RCV003638166]	likely benign	X	70030540	70030540	Human	1	name
405169819	CV3046938	single nucleotide variant	NM_001399.5(EDA):c.924+15A>C	Hypohidrotic X-linked ectodermal dysplasia [RCV003638399]	likely benign	X	70033543	70033543	Human	1	name
405170616	CV3048158	single nucleotide variant	NM_001399.5(EDA):c.925-11C>T	Hypohidrotic X-linked ectodermal dysplasia [RCV003638471]	likely benign	X	70035347	70035347	Human	1	name
405169487	CV3049649	single nucleotide variant	NM_001399.5(EDA):c.526+17A>G	Hypohidrotic X-linked ectodermal dysplasia [RCV003638369]	likely benign	X	70023258	70023258	Human	1	name
405173993	CV3057319	single nucleotide variant	NM_001399.5(EDA):c.706+14T>A	Hypohidrotic X-linked ectodermal dysplasia [RCV003638596]	likely benign	X	70028050	70028050	Human	1	name
405176373	CV3062395	single nucleotide variant	NM_001399.5(EDA):c.503-14T>C	Hypohidrotic X-linked ectodermal dysplasia [RCV003639152]	benign	X	70023204	70023204	Human	1	name
405172092	CV3063509	single nucleotide variant	NM_001399.5(EDA):c.741+18C>G	Hypohidrotic X-linked ectodermal dysplasia [RCV003638580]	benign	X	70029556	70029556	Human	1	name
405175510	CV3068218	single nucleotide variant	NM_001399.5(EDA):c.925-17T>G	Hypohidrotic X-linked ectodermal dysplasia [RCV003639064]	likely benign	X	70035341	70035341	Human	1	name
405177833	CV3076967	single nucleotide variant	NM_001399.5(EDA):c.527-19A>G	Hypohidrotic X-linked ectodermal dysplasia [RCV003639306]	likely benign	X	70027838	70027838	Human	1	name
405172828	CV3150405	single nucleotide variant	NM_001399.5(EDA):c.924+14T>G	Hypohidrotic X-linked ectodermal dysplasia [RCV003841679]	likely benign	X	70033542	70033542	Human	1	name
405160432	CV3152988	single nucleotide variant	NM_001399.5(EDA):c.707-17C>A	Hypohidrotic X-linked ectodermal dysplasia [RCV003840723]	likely benign	X	70029487	70029487	Human	1	name
405254620	CV3175365	single nucleotide variant	NM_001399.5(EDA):c.707-15T>G	Hypohidrotic X-linked ectodermal dysplasia [RCV003871632]	likely benign	X	70029489	70029489	Human	1	name
597921266	CV3765265	deletion	NM_001399.5(EDA):c.706+11del	Hypohidrotic X-linked ectodermal dysplasia [RCV005115282]	benign	X	70028044	70028044	Human	1	name
597950407	CV3768646	single nucleotide variant	NM_001399.5(EDA):c.526+19A>G	Hypohidrotic X-linked ectodermal dysplasia [RCV005120832]	likely benign	X	70023260	70023260	Human	1	name
597924839	CV3772531	single nucleotide variant	NM_001399.5(EDA):c.397-17A>G	Hypohidrotic X-linked ectodermal dysplasia [RCV005115681]	likely benign	X	69957010	69957010	Human	1	name
8607025	CV53374	single nucleotide variant	NM_001399.5(EDA):c.742-11C>T	Hypohidrotic X-linked ectodermal dysplasia [RCV001659954]\|not provided [RCV001682730]\|not specified [RCV000037185]	benign	X	70030458	70030458	Human	1	name
40906573	CV980109	single nucleotide variant	NM_001399.5(EDA):c.396+10C>T	Hypohidrotic X-linked ectodermal dysplasia [RCV001279976]	likely benign\|uncertain significance	X	69616714	69616714	Human	1	name
150433450	CV1216914	single nucleotide variant	NM_001399.5(EDA):c.741+125G>T	not provided [RCV001608816]	benign	X	70029663	70029663	Human		name
150470601	CV1219277	single nucleotide variant	NM_001399.5(EDA):c.924+215C>A	not provided [RCV001615029]	benign	X	70033743	70033743	Human		name
150502816	CV1223313	single nucleotide variant	NM_001399.5(EDA):c.397-96018=	not provided [RCV001621247]	benign	X	69861009	69861009	Human		name
150501403	CV1223696	single nucleotide variant	NM_001399.5(EDA):c.503-279A>G	not provided [RCV001620817]	benign	X	70022939	70022939	Human		name
150466231	CV1240373	single nucleotide variant	NM_001399.5(EDA):c.925-296A>G	not provided [RCV001650134]	benign	X	70035062	70035062	Human		name
150440014	CV1247800	single nucleotide variant	NM_001399.5(EDA):c.527-221G>A	not provided [RCV001666167]	benign	X	70027636	70027636	Human		name
150469967	CV1259747	single nucleotide variant	NM_001399.5(EDA):c.741+168C>T	not provided [RCV001684048]	benign	X	70029706	70029706	Human		name
150449248	CV1273608	duplication	NM_001399.5(EDA):c.396+308dup	not provided [RCV001691708]	benign	X	69617006	69617007	Human		name
150443616	CV1277882	single nucleotide variant	NM_001399.5(EDA):c.526+203C>T	not provided [RCV001707025]	benign	X	70023444	70023444	Human		name
150458581	CV1278792	single nucleotide variant	NM_001399.5(EDA):c.527-291T>A	not provided [RCV001709409]	benign	X	70027566	70027566	Human		name
150489978	CV1279375	single nucleotide variant	NM_001399.5(EDA):c.527-306G>A	not provided [RCV001716390]	benign	X	70027551	70027551	Human		name
150509711	CV1284625	single nucleotide variant	NM_001399.5(EDA):c.924+219T>A	not provided [RCV001720733]	benign	X	70033747	70033747	Human		name
150515816	CV1285667	single nucleotide variant	NM_001399.5(EDA):c.924+210T>C	not provided [RCV001723120]	benign	X	70033738	70033738	Human		name
150467789	CV1220076	single nucleotide variant	NM_001399.5(EDA):c.397-96293T>C	not provided [RCV001614567]	benign	X	69860734	69860734	Human		name
150471020	CV1258720	single nucleotide variant	NM_001399.5(EDA):c.396+53499C>T	not provided [RCV001684266]	benign	X	69670203	69670203	Human		name
150472012	CV1259226	single nucleotide variant	NM_001399.5(EDA):c.396+53750C>G	not provided [RCV001684472]	benign	X	69670454	69670454	Human		name
150512080	CV1284858	single nucleotide variant	NM_001399.5(EDA):c.396+53200A>C	not provided [RCV001721727]	benign	X	69669904	69669904	Human		name
150515239	CV1285474	single nucleotide variant	NM_001399.5(EDA):c.396+53700C>T	not provided [RCV001722927]	benign	X	69670404	69670404	Human		name
26904322	CV853045	deletion	NM_001399.5(EDA):c.673_706+2del	Hypohidrotic X-linked ectodermal dysplasia [RCV001050766]	pathogenic	X	70027998	70028033	Human	1	name
405767050	CV3248181	deletion	NM_001399.5(EDA):c.502_502+19del	Inborn genetic diseases [RCV004384474]	likely pathogenic	X	69957129	69957148	Human	1	name
127239281	CV1065474	single nucleotide variant	NM_001399.5(EDA):c.1A>G (p.Met1Val)	Hypohidrotic X-linked ectodermal dysplasia [RCV001383222]	pathogenic	X	69616309	69616309	Human	1	name
127235294	CV1086795	single nucleotide variant	NM_001399.5(EDA):c.57G>A (p.Glu19=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001396633]	likely benign	X	69616365	69616365	Human	1	name
127301830	CV1150907	deletion	NM_001399.5(EDA):c.706+10_706+11del	Hypohidrotic X-linked ectodermal dysplasia [RCV001478806]	likely benign	X	70028044	70028045	Human	1	name
127318895	CV1159785	single nucleotide variant	NM_001399.5(EDA):c.60A>C (p.Arg20=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001521868]	benign	X	69616368	69616368	Human	1	name
152087536	CV1574088	single nucleotide variant	NM_001399.5(EDA):c.48G>A (p.Ala16=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002150140]	likely benign	X	69616356	69616356	Human	1	name
152142277	CV1586591	single nucleotide variant	NM_001399.5(EDA):c.66C>T (p.Ser22=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002178213]	likely benign	X	69616374	69616374	Human	1	name
156045310	CV1887423	single nucleotide variant	NM_001399.5(EDA):c.36G>A (p.Leu12=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003078678]	likely benign	X	69616344	69616344	Human	1	name
156376678	CV1930554	single nucleotide variant	NM_001399.5(EDA):c.39T>C (p.Pro13=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002633894]	likely benign	X	69616347	69616347	Human	1	name
156376689	CV1930555	single nucleotide variant	NM_001399.5(EDA):c.42A>G (p.Ala14=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002633895]	likely benign	X	69616350	69616350	Human	1	name
156329977	CV2161304	single nucleotide variant	NM_001399.5(EDA):c.97C>A (p.Arg33=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003029712]	likely benign	X	69616405	69616405	Human	1	name
156276028	CV2164400	single nucleotide variant	NM_001399.5(EDA):c.90C>A (p.Ala30=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003027154]	likely benign	X	69616398	69616398	Human	1	name
405051669	CV2880060	deletion	NM_001399.5(EDA):c.742-20_742-17del	Hypohidrotic X-linked ectodermal dysplasia [RCV003522193]	likely benign	X	70030447	70030450	Human	1	name
404990713	CV2893483	deletion	NM_001399.5(EDA):c.397-16_397-11del	Hypohidrotic X-linked ectodermal dysplasia [RCV003525029]	likely benign	X	69957007	69957012	Human	1	name
405064474	CV2901917	single nucleotide variant	NM_001399.5(EDA):c.2T>G (p.Met1Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV003523382]	pathogenic	X	69616310	69616310	Human	1	name
405173146	CV3064221	deletion	NM_001399.5(EDA):c.794-14_794-12del	Hypohidrotic X-linked ectodermal dysplasia [RCV003638611]	likely benign	X	70033382	70033384	Human	1	name
405209912	CV3145923	deletion	NM_001399.5(EDA):c.502+10_502+14del	Hypohidrotic X-linked ectodermal dysplasia [RCV003845653]	likely benign	X	69957142	69957146	Human	1	name
8607008	CV53357	single nucleotide variant	NM_001399.5(EDA):c.2T>C (p.Met1Thr)	Hypohidrotic X-linked ectodermal dysplasia [RCV000037166]\|Hypohidrotic X-linked ectodermal dysplasia [RCV001814027]\|not provided [RCV000255907]	pathogenic	X	69616310	69616310	Human	1	name
8607022	CV53371	deletion	NM_001399.5(EDA):c.706+11_706+12del	Hypohidrotic X-linked ectodermal dysplasia [RCV001276386]\|not provided [RCV001594823]\|not specified [RCV000037182]	benign	X	70028047	70028048	Human	1	name
25318053	CV806251	deletion	NM_001399.5(EDA):c.11del (p.Pro4fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV002250713]\|not provided [RCV001008390]	pathogenic	X	69616317	69616317	Human	1	name
127258639	CV1086796	single nucleotide variant	NM_001399.5(EDA):c.258C>T (p.Thr86=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001419593]	likely benign	X	69616566	69616566	Human	1	name
127236563	CV1108502	single nucleotide variant	NM_001399.5(EDA):c.121C>T (p.Leu41=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001433366]	likely benign	X	69616429	69616429	Human	1	name
127301170	CV1129874	single nucleotide variant	NM_001399.5(EDA):c.234T>A (p.Leu78=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001461311]	likely benign	X	69616542	69616542	Human	1	name
127325564	CV1129875	single nucleotide variant	NM_001399.5(EDA):c.234T>C (p.Leu78=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001468547]	likely benign	X	69616542	69616542	Human	1	name
127332315	CV1150904	single nucleotide variant	NM_001399.5(EDA):c.183C>T (p.Tyr61=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001489417]	likely benign	X	69616491	69616491	Human	1	name
127317624	CV1159786	single nucleotide variant	NM_001399.5(EDA):c.132G>C (p.Leu44=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001521202]	benign	X	69616440	69616440	Human	1	name
152153646	CV1523164	single nucleotide variant	NM_001399.5(EDA):c.195C>A (p.Arg65=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002179827]	likely benign	X	69616503	69616503	Human	1	name
152046766	CV1527225	single nucleotide variant	NM_001399.5(EDA):c.249C>T (p.Thr83=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002166363]	likely benign	X	69616557	69616557	Human	1	name
152142049	CV1586451	single nucleotide variant	NM_001399.5(EDA):c.111G>C (p.Gly37=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002178186]	likely benign	X	69616419	69616419	Human	1	name
152165712	CV1611424	single nucleotide variant	NM_001399.5(EDA):c.111G>A (p.Gly37=)	EDA-related disorder [RCV003958777]\|Hypohidrotic X-linked ectodermal dysplasia [RCV002141771]	likely benign	X	69616419	69616419	Human	1	name , alternate_id
156305553	CV1898578	single nucleotide variant	NM_001399.5(EDA):c.198G>C (p.Ser66=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003088154]	likely benign	X	69616506	69616506	Human	1	name
156143122	CV2126015	single nucleotide variant	NM_001399.5(EDA):c.11C>G (p.Pro4Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV002954301]	uncertain significance	X	69616319	69616319	Human	1	name
401933518	CV2804164	single nucleotide variant	NM_001399.5(EDA):c.22C>A (p.Arg8Ser)	EDA-related disorder [RCV003392883]	uncertain significance	X	69616330	69616330	Human		name , trait , alternate_id
405066946	CV2900018	single nucleotide variant	NM_001399.5(EDA):c.243G>C (p.Ser81=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003523566]	likely benign	X	69616551	69616551	Human	1	name
405079271	CV2908787	single nucleotide variant	NM_001399.5(EDA):c.198G>A (p.Ser66=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003524422]	likely benign	X	69616506	69616506	Human	1	name
405060205	CV2930300	single nucleotide variant	NM_001399.5(EDA):c.225G>A (p.Glu75=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003522902]	likely benign	X	69616533	69616533	Human	1	name
405180208	CV2962291	single nucleotide variant	NM_001399.5(EDA):c.288C>G (p.Leu96=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003639550]	likely benign	X	69616596	69616596	Human	1	name
405185066	CV3003668	single nucleotide variant	NM_001399.5(EDA):c.166C>T (p.Leu56=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003640125]	likely benign	X	69616474	69616474	Human	1	name
405255599	CV3172580	single nucleotide variant	NM_001399.5(EDA):c.273C>T (p.Ser91=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003872518]	likely benign	X	69616581	69616581	Human	1	name
597940516	CV3772770	single nucleotide variant	NM_001399.5(EDA):c.231C>T (p.Arg77=)	Hypohidrotic X-linked ectodermal dysplasia [RCV005118400]	likely benign	X	69616539	69616539	Human	1	name
15112730	CV774175	single nucleotide variant	NM_001399.5(EDA):c.135T>C (p.Gly45=)	Hypohidrotic X-linked ectodermal dysplasia [RCV000938994]	likely benign	X	69616443	69616443	Human	1	name
40906572	CV980108	single nucleotide variant	NM_001399.5(EDA):c.249C>G (p.Thr83=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001279975]	likely benign\|uncertain significance	X	69616557	69616557	Human	1	name
127243583	CV1065475	deletion	NM_001399.5(EDA):c.213del (p.Glu71fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV001384052]	pathogenic	X	69616520	69616520	Human	1	name
127239293	CV1065488	single nucleotide variant	NM_001399.5(EDA):c.801A>G (p.Ser267=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001383225]	pathogenic	X	70033405	70033405	Human	1	name
127255841	CV1086797	single nucleotide variant	NM_001399.5(EDA):c.366A>C (p.Ala122=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001401129]	likely benign	X	69616674	69616674	Human	1	name
127232719	CV1086798	single nucleotide variant	NM_001399.5(EDA):c.456G>A (p.Arg152=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001413589]	likely benign	X	69957086	69957086	Human	1	name
127253641	CV1086799	single nucleotide variant	NM_001399.5(EDA):c.858A>G (p.Leu286=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001418358]	likely benign	X	70033462	70033462	Human	1	name
127271907	CV1108503	single nucleotide variant	NM_001399.5(EDA):c.346T>C (p.Leu116=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001441987]	likely benign	X	69616654	69616654	Human	1	name
127245687	CV1108505	single nucleotide variant	NM_001399.5(EDA):c.403C>T (p.Leu135=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001424385]	likely benign	X	69957033	69957033	Human	1	name
127251906	CV1108507	single nucleotide variant	NM_001399.5(EDA):c.528A>G (p.Gly176=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001425722]	likely benign	X	70027858	70027858	Human	1	name
127242024	CV1108508	single nucleotide variant	NM_001399.5(EDA):c.546T>C (p.Pro182=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001423660]	likely benign	X	70027876	70027876	Human	1	name
127257715	CV1108509	single nucleotide variant	NM_001399.5(EDA):c.570C>T (p.Pro190=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001437946]	likely benign	X	70027900	70027900	Human	1	name
127256128	CV1108510	single nucleotide variant	NM_001399.5(EDA):c.582A>T (p.Pro194=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001426751]	likely benign	X	70027912	70027912	Human	1	name
127243798	CV1108511	single nucleotide variant	NM_001399.5(EDA):c.777A>C (p.Ala259=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001424019]	likely benign	X	70030504	70030504	Human	1	name
127265958	CV1108512	single nucleotide variant	NM_001399.5(EDA):c.834T>G (p.Thr278=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001429274]	likely benign	X	70033438	70033438	Human	1	name
127233809	CV1108513	single nucleotide variant	NM_001399.5(EDA):c.852T>C (p.Phe284=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001421881]	likely benign	X	70033456	70033456	Human	1	name
127280116	CV1108514	single nucleotide variant	NM_001399.5(EDA):c.864C>T (p.Pro288=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001446265]	likely benign	X	70033468	70033468	Human	1	name
127328903	CV1129876	single nucleotide variant	NM_001399.5(EDA):c.345A>G (p.Pro115=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001469870]	likely benign	X	69616653	69616653	Human	1	name
127317965	CV1129881	single nucleotide variant	NM_001399.5(EDA):c.867C>A (p.Arg289=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001466039]	likely benign	X	70033471	70033471	Human	1	name
127325507	CV1150905	single nucleotide variant	NM_001399.5(EDA):c.459T>C (p.Arg153=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001506035]	likely benign	X	69957089	69957089	Human	1	name
127314498	CV1150906	single nucleotide variant	NM_001399.5(EDA):c.558C>T (p.Gly186=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001482233]	likely benign	X	70027888	70027888	Human	1	name
127293602	CV1150909	single nucleotide variant	NM_001399.5(EDA):c.759A>G (p.Leu253=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001496820]	likely benign	X	70030486	70030486	Human	1	name
127319179	CV1159789	single nucleotide variant	NM_001399.5(EDA):c.435A>G (p.Pro145=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001522025]	benign	X	69957065	69957065	Human	1	name
150546660	CV1301102	single nucleotide variant	NM_001399.5(EDA):c.28G>A (p.Glu10Lys)	not provided [RCV001763585]	uncertain significance	X	69616336	69616336	Human		name
150540465	CV1314590	deletion	NM_001399.5(EDA):c.229del (p.Arg77fs)	not provided [RCV001781023]	likely pathogenic	X	69616535	69616535	Human		name
151349434	CV1325367	single nucleotide variant	NM_001399.5(EDA):c.798T>C (p.Leu266=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001814652]	likely pathogenic\|conflicting interpretations of pathogenicity	X	70033402	70033402	Human	1	name
152150061	CV1531177	single nucleotide variant	NM_001399.5(EDA):c.714T>C (p.Ala238=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002201825]	likely benign	X	70029511	70029511	Human	1	name
152050574	CV1533189	single nucleotide variant	NM_001399.5(EDA):c.345A>T (p.Pro115=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002166825]	likely benign	X	69616653	69616653	Human	1	name
152174179	CV1536117	single nucleotide variant	NM_001399.5(EDA):c.988C>T (p.Leu330=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002144352]	likely benign	X	70035421	70035421	Human	1	name
152029074	CV1555636	single nucleotide variant	NM_001399.5(EDA):c.588C>A (p.Pro196=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002186043]	likely benign	X	70027918	70027918	Human	1	name
152029919	CV1568752	single nucleotide variant	NM_001399.5(EDA):c.777A>G (p.Ala259=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002186316]	likely benign	X	70030504	70030504	Human	1	name
152050981	CV1569168	single nucleotide variant	NM_001399.5(EDA):c.879G>A (p.Leu293=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002207520]	benign	X	70033483	70033483	Human	1	name
152093211	CV1570436	single nucleotide variant	NM_001399.5(EDA):c.546T>G (p.Pro182=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002213014]	likely benign	X	70027876	70027876	Human	1	name
152069419	CV1570966	single nucleotide variant	NM_001399.5(EDA):c.56A>C (p.Glu19Ala)	Hypohidrotic X-linked ectodermal dysplasia [RCV002129409]	likely benign	X	69616364	69616364	Human	1	name
152102477	CV1579046	single nucleotide variant	NM_001399.5(EDA):c.744A>G (p.Pro248=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002079170]	likely benign	X	70030471	70030471	Human	1	name
152028484	CV1586962	single nucleotide variant	NM_001399.5(EDA):c.771G>A (p.Gly257=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002085478]	likely benign	X	70030498	70030498	Human	1	name
152173344	CV1589939	single nucleotide variant	NM_001399.5(EDA):c.990G>A (p.Leu330=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002184143]	likely benign	X	70035423	70035423	Human	1	name
152087774	CV1590119	single nucleotide variant	NM_001399.5(EDA):c.669T>G (p.Pro223=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002193869]	likely benign	X	70027999	70027999	Human	1	name
152152157	CV1598437	single nucleotide variant	NM_001399.5(EDA):c.732A>T (p.Arg244=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002121905]	likely benign	X	70029529	70029529	Human	1	name
152035051	CV1604061	single nucleotide variant	NM_001399.5(EDA):c.684C>T (p.Pro228=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002087075]	likely benign	X	70028014	70028014	Human	1	name
152056318	CV1636800	single nucleotide variant	NM_001399.5(EDA):c.321G>A (p.Gly107=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002208135]	likely benign	X	69616629	69616629	Human	1	name
155642701	CV1706361	deletion	NM_001399.5(EDA):c.130del (p.Leu44fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV002287217]	likely pathogenic	X	69616437	69616437	Human	1	name
9690436	CV176311	deletion	NM_001399.4(EDA):c.(?_397)_(502_?)del	Hypohidrotic X-linked ectodermal dysplasia [RCV000156114]	pathogenic	X	69957027	69957132	Human	1	name
11088601	CV176312	deletion	NM_001399.4(EDA):c.(?_707)_(741_?)del	Hypohidrotic X-linked ectodermal dysplasia [RCV000213782]	pathogenic	X	70029504	70029538	Human	1	name
156349540	CV1878289	single nucleotide variant	NM_001399.5(EDA):c.58C>T (p.Arg20Ter)	Hypohidrotic X-linked ectodermal dysplasia [RCV003064733]	pathogenic	X	69616366	69616366	Human	1	name
156398032	CV1880875	single nucleotide variant	NM_001399.5(EDA):c.28G>C (p.Glu10Gln)	Hypohidrotic X-linked ectodermal dysplasia [RCV003068851]	likely benign	X	69616336	69616336	Human	1	name
156038618	CV1890839	single nucleotide variant	NM_001399.5(EDA):c.867C>T (p.Arg289=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003078421]	likely benign	X	70033471	70033471	Human	1	name
156039376	CV1918432	single nucleotide variant	NM_001399.5(EDA):c.354G>A (p.Pro118=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002620190]	likely benign	X	69616662	69616662	Human	1	name
156398620	CV1965935	single nucleotide variant	NM_001399.5(EDA):c.873G>A (p.Gly291=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002584631]	likely benign	X	70033477	70033477	Human	1	name
156244023	CV2029297	single nucleotide variant	NM_001399.5(EDA):c.759A>T (p.Leu253=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002745762]	likely benign	X	70030486	70030486	Human	1	name
156043798	CV2049863	single nucleotide variant	NM_001399.5(EDA):c.552C>A (p.Pro184=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002796533]	likely benign	X	70027882	70027882	Human	1	name
155943708	CV2064618	single nucleotide variant	NM_001399.5(EDA):c.564A>G (p.Pro188=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002839580]	likely benign	X	70027894	70027894	Human	1	name
155953875	CV2073406	single nucleotide variant	NM_001399.5(EDA):c.540A>G (p.Gly180=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002816413]	likely benign	X	70027870	70027870	Human	1	name
156043426	CV2143578	single nucleotide variant	NM_001399.5(EDA):c.753G>T (p.Val251=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002999618]	likely benign	X	70030480	70030480	Human	1	name
155983487	CV2163261	single nucleotide variant	NM_001399.5(EDA):c.886C>T (p.Leu296=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003033990]	likely benign	X	70033490	70033490	Human	1	name
156434251	CV2401905	deletion	NM_001399.5(EDA):c.286del (p.Leu96fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV003110184]	pathogenic	X	69616593	69616593	Human	1	name
11543412	CV257866	single nucleotide variant	NM_001399.5(EDA):c.381C>T (p.Ser127=)	Hypohidrotic X-linked ectodermal dysplasia [RCV000864856]\|not provided [RCV001640513]\|not specified [RCV000242422]	benign	X	69616689	69616689	Human	1	name
8598646	CV26072	single nucleotide variant	NM_001399.5(EDA):c.67C>T (p.Gln23Ter)	Hypohidrotic X-linked ectodermal dysplasia [RCV000011780]\|not provided [RCV004786252]	pathogenic	X	69616375	69616375	Human	1	name
401828888	CV2744730	deletion	NM_001399.5(EDA):c.191del (p.Leu64fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV003328118]	likely pathogenic	X	69616498	69616498	Human	1	name
405075594	CV2874084	single nucleotide variant	NM_001399.5(EDA):c.28G>T (p.Glu10Ter)	Hypohidrotic X-linked ectodermal dysplasia [RCV003524136]	pathogenic	X	69616336	69616336	Human	1	name
405052582	CV2876910	single nucleotide variant	NM_001399.5(EDA):c.885A>G (p.Val295=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003522273]	likely benign	X	70033489	70033489	Human	1	name
404990803	CV2889828	single nucleotide variant	NM_001399.5(EDA):c.960T>C (p.Tyr320=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003525038]	likely benign	X	70035393	70035393	Human	1	name
404991419	CV2893595	single nucleotide variant	NM_001399.5(EDA):c.930C>T (p.Tyr310=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003525102]	likely benign	X	70035363	70035363	Human	1	name
402490815	CV2894980	single nucleotide variant	NM_001399.5(EDA):c.471T>C (p.Asn157=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003525338]	likely benign	X	69957101	69957101	Human	1	name
402490145	CV2906248	single nucleotide variant	NM_001399.5(EDA):c.406T>C (p.Leu136=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003523531]	likely benign	X	69957036	69957036	Human	1	name
404986497	CV2920657	single nucleotide variant	NM_001399.5(EDA):c.636T>A (p.Thr212=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003524596]	likely benign	X	70027966	70027966	Human	1	name
405175002	CV2944066	single nucleotide variant	NM_001399.5(EDA):c.375T>C (p.Ser125=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003639013]	likely benign	X	69616683	69616683	Human	1	name
405041252	CV2951773	single nucleotide variant	NM_001399.5(EDA):c.414C>T (p.Phe138=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003639545]	likely benign	X	69957044	69957044	Human	1	name
405180548	CV2952790	single nucleotide variant	NM_001399.5(EDA):c.672T>C (p.Gly224=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003639589]	likely benign	X	70028002	70028002	Human	1	name
405180933	CV2964154	single nucleotide variant	NM_001399.5(EDA):c.927A>G (p.Val309=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003639633]	likely benign	X	70035360	70035360	Human	1	name
405185032	CV2993636	single nucleotide variant	NM_001399.5(EDA):c.321G>C (p.Gly107=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003640121]	likely benign	X	69616629	69616629	Human	1	name
405041261	CV3010993	single nucleotide variant	NM_001399.5(EDA):c.459T>G (p.Arg153=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003640302]	likely benign	X	69957089	69957089	Human	1	name
405185519	CV3011662	single nucleotide variant	NM_001399.5(EDA):c.897C>T (p.Gly299=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003640176]	likely benign	X	70033501	70033501	Human	1	name
405186084	CV3013055	single nucleotide variant	NM_001399.5(EDA):c.597C>T (p.Pro199=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003640241]	likely benign	X	70027927	70027927	Human	1	name
405186849	CV3018070	single nucleotide variant	NM_001399.5(EDA):c.993G>A (p.Gln331=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003640331]	likely benign	X	70035426	70035426	Human	1	name
405169314	CV3037390	single nucleotide variant	NM_001399.5(EDA):c.831C>T (p.Ile277=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003638242]	likely benign	X	70033435	70033435	Human	1	name
405179397	CV3077924	single nucleotide variant	NM_001399.5(EDA):c.612G>A (p.Gly204=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003639366]	likely benign	X	70027942	70027942	Human	1	name
405216182	CV3124676	single nucleotide variant	NM_001399.5(EDA):c.462T>C (p.Val154=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003824039]	likely benign	X	69957092	69957092	Human	1	name
405175306	CV3150622	single nucleotide variant	NM_001399.5(EDA):c.810G>A (p.Val270=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003841896]	likely benign	X	70033414	70033414	Human	1	name
405226939	CV3169507	single nucleotide variant	NM_001399.5(EDA):c.327G>C (p.Pro109=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003864531]	likely benign	X	69616635	69616635	Human	1	name
405719033	CV3227809	duplication	NM_001399.5(EDA):c.254dup (p.Thr86fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV003992641]	likely pathogenic	X	69616560	69616561	Human	1	name
408384493	CV3505241	single nucleotide variant	NM_001399.5(EDA):c.318T>A (p.Leu106=)	EDA-related disorder [RCV004731774]	likely benign	X	69616626	69616626	Human		name , trait , alternate_id
12742475	CV360670	deletion	NM_001399.5(EDA):c.245del (p.Gly82fs)	not provided [RCV000413757]	pathogenic	X	69616551	69616551	Human		name
597952019	CV3765538	single nucleotide variant	NM_001399.5(EDA):c.903C>T (p.Tyr301=)	Hypohidrotic X-linked ectodermal dysplasia [RCV005121182]	likely benign	X	70033507	70033507	Human	1	name
597954042	CV3786598	single nucleotide variant	NM_001399.5(EDA):c.750G>T (p.Val250=)	Hypohidrotic X-linked ectodermal dysplasia [RCV005121689]	likely benign	X	70030477	70030477	Human	1	name
597947367	CV3800681	single nucleotide variant	NM_001399.5(EDA):c.798T>G (p.Leu266=)	Hypohidrotic X-linked ectodermal dysplasia [RCV005135081]	likely benign	X	70033402	70033402	Human	1	name
598217036	CV3895291	single nucleotide variant	NM_001399.5(EDA):c.53G>C (p.Arg18Pro)	Hypohidrotic X-linked ectodermal dysplasia [RCV005360183]	uncertain significance	X	69616361	69616361	Human	1	name
8654909	CV53354	duplication	NM_001399.5(EDA):c.272dup (p.Ser91fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV000037163]	pathogenic	X	69616579	69616580	Human	1	name
13616441	CV534936	single nucleotide variant	NM_001399.5(EDA):c.741G>A (p.Gln247=)	Hypohidrotic X-linked ectodermal dysplasia [RCV000633505]	pathogenic	X	70029538	70029538	Human	1	name
13616438	CV535048	duplication	NM_001399.5(EDA):c.239dup (p.Ser81fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV000633502]	pathogenic	X	69616545	69616546	Human	1	name
13818247	CV574827	single nucleotide variant	NM_001399.5(EDA):c.97C>T (p.Arg33Trp)	Hypohidrotic X-linked ectodermal dysplasia [RCV000707582]	uncertain significance	X	69616405	69616405	Human	1	name
14394133	CV610258	deletion	NM_001399.5(EDA):c.252del (p.Gly85fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV000821716]\|Tooth agenesis, selective, X-linked, 1 [RCV002466577]\|not provided [RCV000757206]	pathogenic	X	69616560	69616560	Human	2	name
15183016	CV706295	single nucleotide variant	NM_001399.5(EDA):c.390G>T (p.Gly130=)	Hypohidrotic X-linked ectodermal dysplasia [RCV000952363]	benign	X	69616698	69616698	Human	1	name
15182460	CV706297	single nucleotide variant	NM_001399.5(EDA):c.870C>T (p.Ser290=)	Hypohidrotic X-linked ectodermal dysplasia [RCV000952222]	likely benign	X	70033474	70033474	Human	1	name
15140510	CV743445	single nucleotide variant	NM_001399.5(EDA):c.318T>C (p.Leu106=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002065674]	likely benign	X	69616626	69616626	Human	1	name
15143628	CV774176	single nucleotide variant	NM_001399.5(EDA):c.354G>C (p.Pro118=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001452110]	likely benign	X	69616662	69616662	Human	1	name
15173774	CV774177	single nucleotide variant	NM_001399.5(EDA):c.804T>C (p.Gly268=)	Hypohidrotic X-linked ectodermal dysplasia [RCV000928360]	likely benign	X	70033408	70033408	Human	1	name
15099910	CV786892	single nucleotide variant	NM_001399.5(EDA):c.894C>T (p.Asp298=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001482408]	likely benign	X	70033498	70033498	Human	1	name
38484222	CV951865	duplication	NM_001399.5(EDA):c.271dup (p.Ser91fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV001236250]	pathogenic	X	69616577	69616578	Human	1	name
127270511	CV1065477	single nucleotide variant	NM_001399.5(EDA):c.223G>T (p.Glu75Ter)	Hypohidrotic X-linked ectodermal dysplasia [RCV001389869]	pathogenic	X	69616531	69616531	Human	1	name
127242954	CV1065481	deletion	NM_001399.5(EDA):c.497del (p.Ala166fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV001383921]\|not provided [RCV001806162]	pathogenic	X	69957127	69957127	Human	1	name
127230434	CV1086800	single nucleotide variant	NM_001399.5(EDA):c.1041T>C (p.Tyr347=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001394678]	likely benign	X	70035474	70035474	Human	1	name
127279496	CV1086801	single nucleotide variant	NM_001399.5(EDA):c.1137C>T (p.Phe379=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001409172]	likely benign	X	70035570	70035570	Human	1	name
127311075	CV1129882	single nucleotide variant	NM_001399.5(EDA):c.1008C>T (p.Ile336=)	EDA-related disorder [RCV003980382]\|Hypohidrotic X-linked ectodermal dysplasia [RCV001464084]	likely benign	X	70035441	70035441	Human	1	name , alternate_id
127308508	CV1129883	single nucleotide variant	NM_001399.5(EDA):c.1026C>T (p.Asn342=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001456103]	likely benign	X	70035459	70035459	Human	1	name
127289928	CV1150910	single nucleotide variant	NM_001399.5(EDA):c.1071G>A (p.Arg357=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001495824]	likely benign	X	70035504	70035504	Human	1	name
127317808	CV1159788	single nucleotide variant	NM_001399.5(EDA):c.277C>T (p.Leu93Phe)	Hypohidrotic X-linked ectodermal dysplasia [RCV001521316]	benign	X	69616585	69616585	Human	1	name
127308071	CV1159794	single nucleotide variant	NM_001399.5(EDA):c.1083C>T (p.Ala361=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001517348]	benign	X	70035516	70035516	Human	1	name
127308869	CV1159795	single nucleotide variant	NM_001399.5(EDA):c.1098C>T (p.His366=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001517657]	benign	X	70035531	70035531	Human	1	name
151794401	CV1354026	single nucleotide variant	NM_001399.5(EDA):c.163C>G (p.Leu55Val)	Hypohidrotic X-linked ectodermal dysplasia [RCV001990370]	likely pathogenic	X	69616471	69616471	Human	1	name
151743722	CV1431324	single nucleotide variant	NM_001399.5(EDA):c.157C>T (p.Leu53Phe)	Hypohidrotic X-linked ectodermal dysplasia [RCV001893535]\|Hypohidrotic X-linked ectodermal dysplasia [RCV002503530]	uncertain significance	X	69616465	69616465	Human	1	name
151808116	CV1477754	duplication	NM_001399.5(EDA):c.326dup (p.Ser110fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV001953549]	pathogenic	X	69616632	69616633	Human	1	name
151719443	CV1498029	single nucleotide variant	NM_001399.5(EDA):c.1074G>A (p.Gln358=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001965737]	likely benign	X	70035507	70035507	Human	1	name
152140733	CV1520376	single nucleotide variant	NM_001399.5(EDA):c.1170A>G (p.Ala390=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002178024]	likely benign	X	70035603	70035603	Human	1	name
152091952	CV1528903	single nucleotide variant	NM_001399.5(EDA):c.1035T>C (p.Thr345=)	Hypohidrotic X-linked ectodermal dysplasia [RCV002094306]	likely benign	X	70035468	70035468	Human	1	name
9690936	CV176323	single nucleotide variant	NM_001399.5(EDA):c.201G>T (p.Glu67Asp)	not provided [RCV001753548]\|not specified [RCV000156631]	uncertain significance	X	69616509	69616509	Human		name
9691595	CV176328	deletion	NM_001399.5(EDA):c.809del (p.Val270fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV000150599]	pathogenic	X	70033413	70033413	Human	1	name
9691207	CV176432	deletion	NM_001399.4(EDA):c.(?_-115)_(174_?)del	Hypohidrotic X-linked ectodermal dysplasia [RCV000156918]	pathogenic	X	69616194	69616482	Human	1	name
9690437	CV176435	deletion	NM_001399.4(EDA):c.(?_925)_(1176_?)del	Hypohidrotic X-linked ectodermal dysplasia [RCV000156115]	pathogenic	X	70035358	70035609	Human	1	name
9691598	CV176452	deletion	NM_001399.5(EDA):c.948del (p.Phe317fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV000150605]	pathogenic	X	70035381	70035381	Human	1	name
155794739	CV1860991	deletion	NM_001399.5(EDA):c.865del (p.Arg289fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV002468704]	pathogenic	X	70033466	70033466	Human	1	name
156378786	CV1876749	single nucleotide variant	NM_001399.5(EDA):c.1068C>T (p.Ala356=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003066979]	likely benign	X	70035501	70035501	Human	1	name
156335725	CV1966860	single nucleotide variant	NM_001399.5(EDA):c.106G>A (p.Glu36Lys)	Hypohidrotic X-linked ectodermal dysplasia [RCV002601019]	uncertain significance	X	69616414	69616414	Human	1	name
156387775	CV1995933	single nucleotide variant	NM_001399.5(EDA):c.215G>A (p.Arg72His)	Hypohidrotic X-linked ectodermal dysplasia [RCV002654117]	benign	X	69616523	69616523	Human	1	name
156037424	CV2120042	single nucleotide variant	NM_001399.5(EDA):c.218G>C (p.Gly73Ala)	Hypohidrotic X-linked ectodermal dysplasia [RCV002949481]	likely benign	X	69616526	69616526	Human	1	name
156208310	CV2165135	single nucleotide variant	NM_001399.5(EDA):c.1167T>G (p.Pro389=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003024709]	likely benign	X	70035600	70035600	Human	1	name
156105475	CV2361227	single nucleotide variant	NM_001399.5(EDA):c.179G>A (p.Cys60Tyr)	Inborn genetic diseases [RCV002662244]	uncertain significance	X	69616487	69616487	Human	1	name
8598644	CV26070	single nucleotide variant	NM_001399.5(EDA):c.181T>C (p.Tyr61His)	Hypohidrotic X-linked ectodermal dysplasia [RCV000011778]\|Hypohidrotic X-linked ectodermal dysplasia [RCV000763629]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	X	69616489	69616489	Human	1	name
8598645	CV26071	single nucleotide variant	NM_001399.5(EDA):c.206G>T (p.Arg69Leu)	EDA-related disorder [RCV003894799]\|Hypohidrotic X-linked ectodermal dysplasia [RCV000011779]\|not provided [RCV000432524]\|not specified [RCV000218834]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity	X	69616514	69616514	Human	1	name , alternate_id
8598647	CV26073	single nucleotide variant	NM_001399.5(EDA):c.187G>A (p.Glu63Lys)	Hypohidrotic X-linked ectodermal dysplasia [RCV000011781]	pathogenic	X	69616495	69616495	Human	1	name
8598653	CV26080	single nucleotide variant	NM_001399.5(EDA):c.183C>G (p.Tyr61Ter)	Hypohidrotic X-linked ectodermal dysplasia [RCV000011788]	pathogenic	X	69616491	69616491	Human	1	name
8598654	CV26083	single nucleotide variant	NM_001399.5(EDA):c.193C>G (p.Arg65Gly)	Tooth agenesis, selective, X-linked, 1 [RCV000011791]	pathogenic	X	69616501	69616501	Human	1	name
401918641	CV2794608	single nucleotide variant	NM_001399.5(EDA):c.178T>C (p.Cys60Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV003388286]	likely pathogenic	X	69616486	69616486	Human	1	name
405075547	CV2873914	deletion	NM_001399.5(EDA):c.720del (p.Ala241fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV003524133]	pathogenic	X	70029515	70029515	Human	1	name
405064502	CV2901919	single nucleotide variant	NM_001399.5(EDA):c.170C>G (p.Thr57Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV003523384]	likely pathogenic	X	69616478	69616478	Human	1	name
405180979	CV2971091	single nucleotide variant	NM_001399.5(EDA):c.149C>G (p.Ser50Trp)	Hypohidrotic X-linked ectodermal dysplasia [RCV003639638]	uncertain significance	X	69616457	69616457	Human	1	name
405182685	CV2981823	deletion	NM_001399.5(EDA):c.572del (p.Pro191fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV003639852]	pathogenic	X	70027898	70027898	Human	1	name
405187064	CV3022003	deletion	NM_001399.5(EDA):c.883del (p.Val295fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV003640355]	pathogenic	X	70033486	70033486	Human	1	name
405170457	CV3051395	single nucleotide variant	NM_001399.5(EDA):c.1044C>T (p.Thr348=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003638455]	benign	X	70035477	70035477	Human	1	name
405169403	CV3052918	single nucleotide variant	NM_001399.5(EDA):c.205C>T (p.Arg69Trp)	Hypohidrotic X-linked ectodermal dysplasia [RCV003638361]	benign	X	69616513	69616513	Human	1	name
404988506	CV3179882	single nucleotide variant	NM_001399.5(EDA):c.1143G>T (p.Gly381=)	Hypohidrotic X-linked ectodermal dysplasia [RCV003881360]	likely benign	X	70035576	70035576	Human	1	name
405001976	CV3184091	single nucleotide variant	NM_001399.5(EDA):c.197C>T (p.Ser66Leu)	Hypohidrotic X-linked ectodermal dysplasia [RCV003882674]	benign	X	69616505	69616505	Human	1	name
405727690	CV3235294	deletion	NM_001399.5(EDA):c.382del (p.Gln128fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV004018326]	pathogenic	X	69616688	69616688	Human	1	name
596925743	CV3535922	single nucleotide variant	NM_001399.5(EDA):c.167T>C (p.Leu56Pro)	Anhidrotic ectodermal dysplasia [RCV005407347]\|Hypohidrotic X-linked ectodermal dysplasia [RCV004788352]	pathogenic	X	69616475	69616475	Human	3	name
597623008	CV3552244	single nucleotide variant	NM_001399.5(EDA):c.146T>C (p.Leu49Pro)	Hypohidrotic X-linked ectodermal dysplasia [RCV004821102]	likely pathogenic	X	69616454	69616454	Human	1	name
597930952	CV3789406	deletion	NM_001399.5(EDA):c.931del (p.Tyr311fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV005131687]	pathogenic	X	70035364	70035364	Human	1	name
597880718	CV3857342	duplication	NM_001399.5(EDA):c.984dup (p.Phe329fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV005198949]	pathogenic	X	70035414	70035415	Human	1	name
597881382	CV3857462	single nucleotide variant	NM_001399.5(EDA):c.133G>C (p.Gly45Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV005199079]	likely pathogenic	X	69616441	69616441	Human	1	name
598126262	CV3886168	single nucleotide variant	NM_001399.5(EDA):c.209G>C (p.Arg70Pro)	not provided [RCV005241971]	uncertain significance	X	69616517	69616517	Human		name
13207642	CV422942	single nucleotide variant	NM_001399.5(EDA):c.180C>A (p.Cys60Ter)	Hypohidrotic X-linked ectodermal dysplasia [RCV000494692]	pathogenic	X	69616488	69616488	Human	1	name
13475906	CV446736	deletion	NM_001399.5(EDA):c.593del (p.Gly198fs)	not provided [RCV000520012]	pathogenic	X	70027921	70027921	Human		name
13500663	CV471958	duplication	NM_001399.5(EDA):c.560dup (p.Pro188fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV000537831]	pathogenic	X	70027887	70027888	Human	1	name
13465715	CV471959	duplication	NM_001399.5(EDA):c.599dup (p.Gly201fs)	EDA-related disorder [RCV003905343]\|Hypohidrotic X-linked ectodermal dysplasia [RCV000548188]	pathogenic	X	70027924	70027925	Human	1	name , alternate_id
13520447	CV495643	deletion	NM_001399.5(EDA):c.390del (p.His131fs)	not provided [RCV000598642]	pathogenic	X	69616696	69616696	Human		name
8607006	CV53355	single nucleotide variant	NM_001399.5(EDA):c.164T>A (p.Leu55Gln)	Hypohidrotic X-linked ectodermal dysplasia [RCV000037164]	likely pathogenic	X	69616472	69616472	Human	1	name
8607028	CV53377	deletion	NM_001399.5(EDA):c.822del (p.Trp274fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV000037188]	pathogenic	X	70033425	70033425	Human	1	name
13813662	CV574868	single nucleotide variant	NM_001399.5(EDA):c.167T>A (p.Leu56Gln)	Hypohidrotic X-linked ectodermal dysplasia [RCV000690311]	pathogenic\|uncertain significance	X	69616475	69616475	Human	1	name
13802370	CV574869	single nucleotide variant	NM_001399.5(EDA):c.242C>T (p.Ser81Leu)	Hypohidrotic X-linked ectodermal dysplasia [RCV000698298]	likely benign\|uncertain significance	X	69616550	69616550	Human	1	name
13813619	CV574871	duplication	NM_001399.5(EDA):c.459dup (p.Val154fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV000690283]	pathogenic	X	69957088	69957089	Human	1	name
14396311	CV612124	single nucleotide variant	NM_001399.5(EDA):c.161A>T (p.His54Leu)	Hypohidrotic X-linked ectodermal dysplasia [RCV000761232]	likely pathogenic	X	69616469	69616469	Human	1	name
14719905	CV650159	single nucleotide variant	NM_001399.5(EDA):c.181T>A (p.Tyr61Asn)	Hypohidrotic X-linked ectodermal dysplasia [RCV000812806]	likely pathogenic	X	69616489	69616489	Human	1	name
14707527	CV650160	deletion	NM_001399.5(EDA):c.599del (p.Pro200fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV000807385]	pathogenic	X	70027925	70027925	Human	1	name
15014800	CV679215	duplication	NM_001399.5(EDA):c.686dup (p.Gly230fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV000852303]	pathogenic	X	70028011	70028012	Human	1	name
15141548	CV694917	single nucleotide variant	NM_001399.5(EDA):c.1104C>T (p.Asp368=)	Hypohidrotic X-linked ectodermal dysplasia [RCV000877695]	benign	X	70035537	70035537	Human	1	name
15166116	CV729687	single nucleotide variant	NM_001399.5(EDA):c.1014G>A (p.Thr338=)	Hypohidrotic X-linked ectodermal dysplasia [RCV001518214]	benign	X	70035447	70035447	Human	1	name
15107177	CV758620	single nucleotide variant	NM_001399.5(EDA):c.1080C>T (p.Ile360=)	Hypohidrotic X-linked ectodermal dysplasia [RCV000915902]	likely benign	X	70035513	70035513	Human	1	name
21075105	CV798374	deletion	NM_001399.5(EDA):c.447del (p.Glu150fs)	not provided [RCV000995937]	likely pathogenic	X	69957076	69957076	Human		name
26906839	CV850220	deletion	NM_001399.5(EDA):c.589del (p.Gln197fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV001051941]	pathogenic	X	70027916	70027916	Human	1	name
38465087	CV951864	single nucleotide variant	NM_001399.5(EDA):c.134G>A (p.Gly45Asp)	Hypohidrotic X-linked ectodermal dysplasia [RCV001230087]	pathogenic\|uncertain significance	X	69616442	69616442	Human	1	name
38496481	CV959333	single nucleotide variant	NM_001399.5(EDA):c.148T>G (p.Ser50Ala)	Hypohidrotic X-linked ectodermal dysplasia [RCV001242590]	uncertain significance	X	69616456	69616456	Human	1	name
42723646	CV984542	deletion	NM_001399.5(EDA):c.492del (p.Gly165fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV001291627]	pathogenic	X	69957121	69957121	Human	1	name
126726060	CV1035611	single nucleotide variant	NM_001399.5(EDA):c.914G>A (p.Ser305Asn)	Hypohidrotic X-linked ectodermal dysplasia [RCV001348345]	uncertain significance	X	70033518	70033518	Human	1	name
126747213	CV1035612	single nucleotide variant	NM_001399.5(EDA):c.950T>G (p.Phe317Cys)	Hypohidrotic X-linked ectodermal dysplasia [RCV001351638]	uncertain significance	X	70035383	70035383	Human	1	name
127246239	CV1065479	duplication	NM_001399.5(EDA):c.441dup (p.Glu148Ter)	Hypohidrotic X-linked ectodermal dysplasia [RCV001384513]	pathogenic	X	69957070	69957071	Human	1	name
127239290	CV1065486	single nucleotide variant	NM_001399.5(EDA):c.632C>G (p.Thr211Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV001383224]	pathogenic	X	70027962	70027962	Human	1	name
127239285	CV1065487	single nucleotide variant	NM_001399.5(EDA):c.643G>T (p.Gly215Ter)	Hypohidrotic X-linked ectodermal dysplasia [RCV001383223]	pathogenic	X	70027973	70027973	Human	1	name
127266886	CV1108504	single nucleotide variant	NM_001399.5(EDA):c.371A>G (p.His124Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV001440387]	likely benign	X	69616679	69616679	Human	1	name
127256401	CV1108506	single nucleotide variant	NM_001399.5(EDA):c.449A>G (p.Glu150Gly)	Hypohidrotic X-linked ectodermal dysplasia [RCV001426805]	likely benign	X	69957079	69957079	Human	1	name
127317905	CV1159793	single nucleotide variant	NM_001399.5(EDA):c.833C>G (p.Thr278Ser)	EDA-related disorder [RCV004754768]\|Hypohidrotic X-linked ectodermal dysplasia [RCV001521383]	benign\|uncertain significance	X	70033437	70033437	Human	1	name , alternate_id
150333775	CV1174946	single nucleotide variant	NM_001399.5(EDA):c.602G>A (p.Gly201Glu)	Hypohidrotic X-linked ectodermal dysplasia [RCV001543630]	pathogenic	X	70027932	70027932	Human	1	name
150333778	CV1174947	single nucleotide variant	NM_001399.5(EDA):c.628G>A (p.Gly210Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV001543631]	pathogenic	X	70027958	70027958	Human	1	name
150419380	CV1182155	single nucleotide variant	NM_001399.5(EDA):c.607C>A (p.Pro203Thr)	not provided [RCV001551029]	likely pathogenic	X	70027937	70027937	Human		name
150418832	CV1199532	single nucleotide variant	NM_001399.5(EDA):c.800C>G (p.Ser267Ter)	Hypohidrotic X-linked ectodermal dysplasia [RCV005040327]\|not provided [RCV001576911]	pathogenic\|likely pathogenic	X	70033404	70033404	Human	1	name
150413916	CV1199533	single nucleotide variant	NM_001399.5(EDA):c.953C>A (p.Ala318Asp)	not provided [RCV001574769]	likely pathogenic	X	70035386	70035386	Human		name
150469146	CV1207524	single nucleotide variant	NM_001399.5(EDA):c.929A>G (p.Tyr310Cys)	not provided [RCV001588213]	pathogenic	X	70035362	70035362	Human		name
151233339	CV1317786	single nucleotide variant	NM_001399.5(EDA):c.796C>T (p.Leu266Phe)	not provided [RCV001787552]	uncertain significance	X	70033400	70033400	Human		name
8696134	CV132579	single nucleotide variant	NM_001399.5(EDA):c.956G>T (p.Ser319Ile)	Tooth agenesis, selective, X-linked, 1 [RCV000128525]	not provided	X	70035389	70035389	Human		name
151831037	CV1355874	single nucleotide variant	NM_001399.5(EDA):c.935T>C (p.Ile312Thr)	Hypohidrotic X-linked ectodermal dysplasia [RCV002030805]	likely pathogenic	X	70035368	70035368	Human	1	name
151786063	CV1456199	single nucleotide variant	NM_001399.5(EDA):c.473A>G (p.Lys158Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV002046618]	likely pathogenic	X	69957103	69957103	Human	1	name
151760234	CV1459398	single nucleotide variant	NM_001399.5(EDA):c.973G>T (p.Asp325Tyr)	Hypohidrotic X-linked ectodermal dysplasia [RCV002044187]	uncertain significance	X	70035406	70035406	Human	1	name
151763209	CV1471545	single nucleotide variant	NM_001399.5(EDA):c.619G>A (p.Gly207Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV001949391]	pathogenic	X	70027949	70027949	Human	1	name
151835734	CV1471552	single nucleotide variant	NM_001399.5(EDA):c.916C>T (p.Gln306Ter)	Hypohidrotic X-linked ectodermal dysplasia [RCV001956142]	pathogenic	X	70033520	70033520	Human	1	name
151784575	CV1481412	single nucleotide variant	NM_001399.5(EDA):c.896G>A (p.Gly299Asp)	Hypohidrotic X-linked ectodermal dysplasia [RCV001951402]	pathogenic	X	70033500	70033500	Human	1	name
151847137	CV1483931	single nucleotide variant	NM_001399.5(EDA):c.410A>T (p.Asn137Ile)	Hypohidrotic X-linked ectodermal dysplasia [RCV001903584]	uncertain significance	X	69957040	69957040	Human	1	name
151719787	CV1484918	single nucleotide variant	NM_001399.5(EDA):c.659C>T (p.Pro220Leu)	Hypohidrotic X-linked ectodermal dysplasia [RCV001982885]	pathogenic	X	70027989	70027989	Human	1	name
151784728	CV1508662	single nucleotide variant	NM_001399.5(EDA):c.958T>G (p.Tyr320Asp)	Hypohidrotic X-linked ectodermal dysplasia [RCV002010068]	likely pathogenic	X	70035391	70035391	Human	1	name
151843786	CV1510957	single nucleotide variant	NM_001399.5(EDA):c.440C>G (p.Ser147Cys)	Hypohidrotic X-linked ectodermal dysplasia [RCV001957075]	uncertain significance	X	69957070	69957070	Human	1	name
152069352	CV1569922	single nucleotide variant	NM_001399.5(EDA):c.717T>G (p.Asp239Glu)	Hypohidrotic X-linked ectodermal dysplasia [RCV002191571]\|Inborn genetic diseases [RCV003089041]	benign\|uncertain significance	X	70029514	70029514	Human	2	name
152152154	CV1626807	single nucleotide variant	NM_001399.5(EDA):c.808G>A (p.Val270Met)	Hypohidrotic X-linked ectodermal dysplasia [RCV002202135]	likely benign	X	70033412	70033412	Human	1	name
152078457	CV1666540	single nucleotide variant	NM_001399.5(EDA):c.480C>G (p.Ser160Arg)	Tooth agenesis, selective, X-linked, 1 [RCV002210930]	uncertain significance	X	69957110	69957110	Human	1	name
155265942	CV1696116	single nucleotide variant	NM_001399.5(EDA):c.837G>A (p.Met279Ile)	Hypohidrotic X-linked ectodermal dysplasia [RCV002280809]	pathogenic	X	70033441	70033441	Human	1	name
9689169	CV176327	single nucleotide variant	NM_001399.5(EDA):c.766C>T (p.Gln256Ter)	Hypohidrotic X-linked ectodermal dysplasia [RCV000686194]	pathogenic	X	70030493	70030493	Human	1	name
9691597	CV176329	single nucleotide variant	NM_001399.5(EDA):c.917A>T (p.Gln306Leu)	not specified [RCV000150604]	uncertain significance	X	70033521	70033521	Human		name
9691599	CV176330	single nucleotide variant	NM_001399.5(EDA):c.991C>T (p.Gln331Ter)	Hypohidrotic X-linked ectodermal dysplasia [RCV000150607]	pathogenic	X	70035424	70035424	Human	1	name
9690239	CV176447	single nucleotide variant	NM_001399.5(EDA):c.474A>C (p.Lys158Asn)	Hypohidrotic X-linked ectodermal dysplasia [RCV000155912]	pathogenic	X	69957104	69957104	Human	1	name
9691594	CV176448	single nucleotide variant	NM_001399.5(EDA):c.676C>T (p.Gln226Ter)	Hypohidrotic X-linked ectodermal dysplasia [RCV000150598]	pathogenic	X	70028006	70028006	Human	1	name
9690376	CV176450	single nucleotide variant	NM_001399.5(EDA):c.794A>G (p.Asp265Gly)	Hypohidrotic X-linked ectodermal dysplasia [RCV000796602]\|not specified [RCV000156051]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	70033398	70033398	Human	1	name
9691596	CV176451	single nucleotide variant	NM_001399.5(EDA):c.822G>A (p.Trp274Ter)	Hypohidrotic X-linked ectodermal dysplasia [RCV000150600]	pathogenic	X	70033426	70033426	Human	1	name
156349553	CV1878290	single nucleotide variant	NM_001399.5(EDA):c.836T>G (p.Met279Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV003064734]	likely pathogenic\|uncertain significance	X	70033440	70033440	Human	1	name
156382741	CV1878291	single nucleotide variant	NM_001399.5(EDA):c.917A>C (p.Gln306Pro)	Hypohidrotic X-linked ectodermal dysplasia [RCV003050618]	pathogenic	X	70033521	70033521	Human	1	name
156292004	CV1887101	single nucleotide variant	NM_001399.5(EDA):c.387C>G (p.Asp129Glu)	Hypohidrotic X-linked ectodermal dysplasia [RCV003087523]	likely benign	X	69616695	69616695	Human	1	name
156441524	CV1944185	single nucleotide variant	NM_001399.5(EDA):c.826C>G (p.Arg276Gly)	Hypohidrotic X-linked ectodermal dysplasia [RCV003111851]	likely pathogenic	X	70033430	70033430	Human	1	name
156352117	CV1978530	single nucleotide variant	NM_001399.5(EDA):c.871G>C (p.Gly291Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV002601900]	pathogenic	X	70033475	70033475	Human	1	name
156261605	CV2030140	single nucleotide variant	NM_001399.5(EDA):c.904T>C (p.Phe302Leu)	Hypohidrotic X-linked ectodermal dysplasia [RCV002746329]	pathogenic	X	70033508	70033508	Human	1	name
155997164	CV2064109	single nucleotide variant	NM_001399.5(EDA):c.928T>G (p.Tyr310Asp)	Hypohidrotic X-linked ectodermal dysplasia [RCV002843238]	likely pathogenic	X	70035361	70035361	Human	1	name
156324141	CV2072201	single nucleotide variant	NM_001399.5(EDA):c.872G>T (p.Gly291Val)	Hypohidrotic X-linked ectodermal dysplasia [RCV002834901]	pathogenic\|likely pathogenic	X	70033476	70033476	Human	1	name
156092432	CV2077321	deletion	NM_001399.5(EDA):c.1144del (p.Ala382fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV002847768]	pathogenic	X	70035574	70035574	Human	1	name
156140722	CV2082305	single nucleotide variant	NM_001399.5(EDA):c.827G>C (p.Arg276Pro)	Hypohidrotic X-linked ectodermal dysplasia [RCV002871973]	uncertain significance	X	70033431	70033431	Human	1	name
156244167	CV2105516	single nucleotide variant	NM_001399.5(EDA):c.658C>G (p.Pro220Ala)	Hypohidrotic X-linked ectodermal dysplasia [RCV002933311]	likely pathogenic	X	70027988	70027988	Human	1	name
155951336	CV2123522	single nucleotide variant	NM_001399.5(EDA):c.611G>A (p.Gly204Glu)	Hypohidrotic X-linked ectodermal dysplasia [RCV002971884]	likely pathogenic	X	70027941	70027941	Human	1	name
156296061	CV2149174	single nucleotide variant	NM_001399.5(EDA):c.959A>C (p.Tyr320Ser)	Hypohidrotic X-linked ectodermal dysplasia [RCV003010168]	likely pathogenic	X	70035392	70035392	Human	1	name
156048285	CV2154154	single nucleotide variant	NM_001399.5(EDA):c.805G>A (p.Gly269Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV003019308]	likely pathogenic	X	70033409	70033409	Human	1	name
156342129	CV2175950	single nucleotide variant	NM_001399.5(EDA):c.607C>G (p.Pro203Ala)	Hypohidrotic X-linked ectodermal dysplasia [RCV003030341]	likely pathogenic\|uncertain significance	X	70027937	70027937	Human	1	name
11092405	CV231286	single nucleotide variant	NM_001399.5(EDA):c.477A>T (p.Arg159Ser)	Hypohidrotic X-linked ectodermal dysplasia [RCV000218495]	likely pathogenic	X	69957107	69957107	Human	1	name
11096176	CV231292	single nucleotide variant	NM_001399.5(EDA):c.866G>A (p.Arg289His)	Anhidrotic ectodermal dysplasia [RCV003317157]\|Hypodontia [RCV000223248]\|Hypohidrotic X-linked ectodermal dysplasia [RCV001054886]\|Hypohidrotic X-linked ectodermal dysplasia [RCV001248822]\|not provided [RCV003886387]	pathogenic\|likely pathogenic	X	70033470	70033470	Human	7	name
11089552	CV231293	single nucleotide variant	NM_001399.5(EDA):c.911A>C (p.Tyr304Ser)	Hypohidrotic X-linked ectodermal dysplasia [RCV000214953]	likely pathogenic	X	70033515	70033515	Human	1	name
11095274	CV231294	single nucleotide variant	NM_001399.5(EDA):c.960T>G (p.Tyr320Ter)	Hypohidrotic X-linked ectodermal dysplasia [RCV000222108]	pathogenic	X	70035393	70035393	Human	1	name
243062423	CV2404862	indel	NM_001399.5(EDA):c.4delinsAT (p.Gly2fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV003140411]	likely pathogenic	X	69616312	69616312	Human		name
243063930	CV2405459	single nucleotide variant	NM_001399.5(EDA):c.634A>G (p.Thr212Ala)	Hypohidrotic X-linked ectodermal dysplasia [RCV003142538]	uncertain significance	X	70027964	70027964	Human	1	name
243058509	CV2412461	single nucleotide variant	NM_001399.5(EDA):c.910T>G (p.Tyr304Asp)	not provided [RCV003147003]	uncertain significance	X	70033514	70033514	Human		name
243057564	CV2418721	single nucleotide variant	NM_001399.5(EDA):c.398T>C (p.Met133Thr)	not specified [RCV003155688]	uncertain significance	X	69957028	69957028	Human		name
11531304	CV247464	single nucleotide variant	NM_001399.5(EDA):c.776C>A (p.Ala259Glu)	Tooth agenesis, selective, X-linked, 1 [RCV000239463]	pathogenic	X	70030503	70030503	Human	1	name
11531326	CV247465	single nucleotide variant	NM_001399.5(EDA):c.865C>T (p.Arg289Cys)	Hypohidrotic X-linked ectodermal dysplasia [RCV000692210]\|Tooth agenesis, selective, X-linked, 1 [RCV000239506]	pathogenic\|likely pathogenic	X	70033469	70033469	Human	2	name
11531306	CV247467	single nucleotide variant	NM_001399.5(EDA):c.755A>T (p.His252Leu)	Hypohidrotic X-linked ectodermal dysplasia [RCV000239466]	pathogenic	X	70030482	70030482	Human	1	name
329349563	CV2477118	single nucleotide variant	NM_001399.5(EDA):c.550C>T (p.Pro184Ser)	not provided [RCV003221443]	uncertain significance	X	70027880	70027880	Human		name
8598648	CV26074	single nucleotide variant	NM_001399.5(EDA):c.463C>T (p.Arg155Cys)	Hypohidrotic X-linked ectodermal dysplasia [RCV000011782]\|Hypohidrotic X-linked ectodermal dysplasia [RCV000763630]\|not provided [RCV000254983]	pathogenic	X	69957093	69957093	Human	1	name
8598649	CV26075	single nucleotide variant	NM_001399.5(EDA):c.466C>T (p.Arg156Cys)	EDA-related disorder [RCV003390668]\|Hypohidrotic X-linked ectodermal dysplasia [RCV000011783]\|not provided [RCV000414306]	pathogenic\|likely pathogenic	X	69957096	69957096	Human	1	name , alternate_id
8604239	CV26076	single nucleotide variant	NM_001399.5(EDA):c.467G>A (p.Arg156His)	Hypohidrotic X-linked ectodermal dysplasia [RCV000032612]\|Hypohidrotic X-linked ectodermal dysplasia [RCV002490354]\|not provided [RCV000255365]	pathogenic	X	69957097	69957097	Human	1	name
8598650	CV26077	single nucleotide variant	NM_001399.5(EDA):c.626C>T (p.Pro209Leu)	Hypohidrotic X-linked ectodermal dysplasia [RCV000011785]\|not specified [RCV000154610]	pathogenic\|likely pathogenic\|uncertain significance	X	70027956	70027956	Human	1	name
8598651	CV26078	single nucleotide variant	NM_001399.5(EDA):c.671G>C (p.Gly224Ala)	Hypohidrotic X-linked ectodermal dysplasia [RCV000011786]	pathogenic	X	70028001	70028001	Human	1	name
11633919	CV265171	single nucleotide variant	NM_001399.5(EDA):c.872G>A (p.Gly291Glu)	Hypohidrotic X-linked ectodermal dysplasia [RCV001347864]\|not provided [RCV000378927]	pathogenic\|uncertain significance	X	70033476	70033476	Human	1	name
11642082	CV265774	single nucleotide variant	NM_001399.5(EDA):c.741G>T (p.Gln247His)	Hypohidrotic X-linked ectodermal dysplasia [RCV001859549]\|not provided [RCV000368754]	uncertain significance	X	70029538	70029538	Human	1	name
401829005	CV2668597	single nucleotide variant	NM_001399.5(EDA):c.760C>T (p.Gln254Ter)	Hypohidrotic X-linked ectodermal dysplasia [RCV003326689]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	70030487	70030487	Human	1	name
329952421	CV2669605	single nucleotide variant	NM_001399.5(EDA):c.878T>G (p.Leu293Arg)	Tooth agenesis, selective, 2 [RCV003233055]	pathogenic	X	70033482	70033482	Human	1	name
401830168	CV2744122	single nucleotide variant	NM_001399.5(EDA):c.706G>A (p.Gly236Ser)	Hypohidrotic X-linked ectodermal dysplasia [RCV003327319]	likely pathogenic	X	70028036	70028036	Human	1	name
401927531	CV2797103	single nucleotide variant	NM_001399.5(EDA):c.847G>T (p.Val283Leu)	EDA-related disorder [RCV003406245]	uncertain significance	X	70033451	70033451	Human		name , trait , alternate_id
401933633	CV2799394	single nucleotide variant	NM_001399.5(EDA):c.820T>C (p.Trp274Arg)	EDA-related disorder [RCV003410507]	likely pathogenic	X	70033424	70033424	Human		name , trait , alternate_id
401923475	CV2803299	deletion	NM_001399.5(EDA):c.1008del (p.Ile336fs)	EDA-related disorder [RCV003404445]	likely pathogenic	X	70035441	70035441	Human		name , trait , alternate_id
405064071	CV2858242	single nucleotide variant	NM_001399.5(EDA):c.794A>C (p.Asp265Ala)	Hypohidrotic X-linked ectodermal dysplasia [RCV003523347]\|not provided [RCV004763698]	uncertain significance	X	70033398	70033398	Human	1	name
405064487	CV2901918	duplication	NM_001399.5(EDA):c.64_71dup (p.Cys25fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV003523383]	pathogenic	X	69616367	69616368	Human	1	name
405064516	CV2901920	single nucleotide variant	NM_001399.5(EDA):c.662G>A (p.Gly221Asp)	Hypohidrotic X-linked ectodermal dysplasia [RCV003523385]	pathogenic	X	70027992	70027992	Human	1	name
405064529	CV2901922	single nucleotide variant	NM_001399.5(EDA):c.948C>G (p.Asp316Glu)	Hypohidrotic X-linked ectodermal dysplasia [RCV003523386]	likely pathogenic	X	70035381	70035381	Human	1	name
405181868	CV2969687	single nucleotide variant	NM_001399.5(EDA):c.958T>C (p.Tyr320His)	Hypohidrotic X-linked ectodermal dysplasia [RCV003639749]	likely pathogenic	X	70035391	70035391	Human	1	name
405181322	CV2974948	single nucleotide variant	NM_001399.5(EDA):c.895G>T (p.Gly299Cys)	Hypohidrotic X-linked ectodermal dysplasia [RCV003639680]	likely pathogenic	X	70033499	70033499	Human	1	name
405181382	CV2975253	single nucleotide variant	NM_001399.5(EDA):c.644G>A (p.Gly215Glu)	Hypohidrotic X-linked ectodermal dysplasia [RCV003639687]	likely pathogenic	X	70027974	70027974	Human	1	name
405182279	CV2976990	single nucleotide variant	NM_001399.5(EDA):c.803G>T (p.Gly268Val)	Hypohidrotic X-linked ectodermal dysplasia [RCV003639777]	uncertain significance	X	70033407	70033407	Human	1	name
405183562	CV2994187	single nucleotide variant	NM_001399.5(EDA):c.532A>G (p.Lys178Glu)	Hypohidrotic X-linked ectodermal dysplasia [RCV003639965]	uncertain significance	X	70027862	70027862	Human	1	name
405184305	CV2999174	single nucleotide variant	NM_001399.5(EDA):c.565G>A (p.Gly189Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV003640039]	likely pathogenic	X	70027895	70027895	Human	1	name
405186349	CV3016872	single nucleotide variant	NM_001399.5(EDA):c.625C>T (p.Pro209Ser)	Hypohidrotic X-linked ectodermal dysplasia [RCV003640272]	likely pathogenic	X	70027955	70027955	Human	1	name
405130521	CV3115018	single nucleotide variant	NM_001399.5(EDA):c.986T>G (p.Phe329Cys)	Hypohidrotic X-linked ectodermal dysplasia [RCV003815863]	likely pathogenic	X	70035419	70035419	Human	1	name
402481150	CV3170672	single nucleotide variant	NM_001399.5(EDA):c.497C>T (p.Ala166Val)	Hypohidrotic X-linked ectodermal dysplasia [RCV003875874]	likely benign	X	69957127	69957127	Human	1	name
407426806	CV3411606	single nucleotide variant	NM_001399.5(EDA):c.739C>T (p.Gln247Ter)	not provided [RCV004590784]	pathogenic	X	70029536	70029536	Human		name
597712116	CV3414282	single nucleotide variant	NM_001399.5(EDA):c.599C>T (p.Pro200Leu)	Hypohidrotic X-linked ectodermal dysplasia [RCV005052087]	pathogenic	X	70027929	70027929	Human	1	name
597712125	CV3414283	single nucleotide variant	NM_001399.5(EDA):c.787A>C (p.Lys263Gln)	Oligodontia [RCV005052088]	pathogenic	X	70030514	70030514	Human	2	name
407572698	CV3497183	single nucleotide variant	NM_001399.5(EDA):c.769G>A (p.Gly257Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV004699003]	likely pathogenic	X	70030496	70030496	Human	1	name
407574514	CV3499525	single nucleotide variant	NM_001399.5(EDA):c.779T>G (p.Ile260Ser)	not provided [RCV004719520]	likely pathogenic	X	70030506	70030506	Human		name
408383227	CV3504981	single nucleotide variant	NM_001399.5(EDA):c.955A>C (p.Ser319Arg)	EDA-related disorder [RCV004730513]	uncertain significance	X	70035388	70035388	Human		name , trait , alternate_id
408384311	CV3505040	single nucleotide variant	NM_001399.5(EDA):c.928T>C (p.Tyr310His)	EDA-related disorder [RCV004731703]	uncertain significance	X	70035361	70035361	Human		name , trait , alternate_id
408389606	CV3524649	single nucleotide variant	NM_001399.5(EDA):c.641T>C (p.Met214Thr)	not provided [RCV004769544]	uncertain significance	X	70027971	70027971	Human		name
596931386	CV3531722	single nucleotide variant	NM_001399.5(EDA):c.797T>C (p.Leu266Pro)	not provided [RCV004781284]	uncertain significance	X	70033401	70033401	Human		name
596938762	CV3543487	single nucleotide variant	NM_001399.5(EDA):c.466C>A (p.Arg156Ser)	not provided [RCV004801609]	pathogenic	X	69957096	69957096	Human		name
12742213	CV360646	single nucleotide variant	NM_001399.5(EDA):c.827G>T (p.Arg276Leu)	Hypohidrotic X-linked ectodermal dysplasia [RCV001865280]\|not provided [RCV000413141]	pathogenic\|likely pathogenic	X	70033431	70033431	Human	1	name
12742590	CV360674	single nucleotide variant	NM_001399.5(EDA):c.932A>C (p.Tyr311Ser)	not provided [RCV000414008]	likely pathogenic	X	70035365	70035365	Human		name
12742370	CV360702	single nucleotide variant	NM_001399.5(EDA):c.769G>C (p.Gly257Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV005090663]\|not provided [RCV000413515]	likely pathogenic\|uncertain significance	X	70030496	70030496	Human	1	name
597945462	CV3779631	single nucleotide variant	NM_001399.5(EDA):c.848T>G (p.Val283Gly)	Hypohidrotic X-linked ectodermal dysplasia [RCV005134595]	uncertain significance	X	70033452	70033452	Human	1	name
597881170	CV3783741	single nucleotide variant	NM_001399.5(EDA):c.850T>C (p.Phe284Leu)	Hypohidrotic X-linked ectodermal dysplasia [RCV005124237]	pathogenic	X	70033454	70033454	Human	1	name
597969674	CV3791639	single nucleotide variant	NM_001399.5(EDA):c.983C>A (p.Pro328His)	Hypohidrotic X-linked ectodermal dysplasia [RCV005141456]	uncertain significance	X	70035416	70035416	Human	1	name
597865349	CV3792596	single nucleotide variant	NM_001399.5(EDA):c.865C>G (p.Arg289Gly)	Hypohidrotic X-linked ectodermal dysplasia [RCV005147403]	uncertain significance	X	70033469	70033469	Human	1	name
12849974	CV379504	single nucleotide variant	NM_001399.5(EDA):c.617C>T (p.Pro206Leu)	Hypohidrotic X-linked ectodermal dysplasia [RCV000526582]\|not provided [RCV000439320]	pathogenic\|likely pathogenic	X	70027947	70027947	Human	1	name
12849618	CV380105	single nucleotide variant	NM_001399.5(EDA):c.494G>C (p.Gly165Ala)	Hypohidrotic X-linked ectodermal dysplasia [RCV000822954]\|not provided [RCV000432953]	pathogenic\|likely pathogenic\|uncertain significance	X	69957124	69957124	Human	1	name
597849859	CV3802565	single nucleotide variant	NM_001399.5(EDA):c.448G>T (p.Glu150Ter)	Hypohidrotic X-linked ectodermal dysplasia [RCV005142163]	pathogenic	X	69957078	69957078	Human	1	name
597881396	CV3857464	single nucleotide variant	NM_001399.5(EDA):c.754C>T (p.His252Tyr)	Hypohidrotic X-linked ectodermal dysplasia [RCV005199081]	pathogenic	X	70030481	70030481	Human	1	name
597881404	CV3857465	single nucleotide variant	NM_001399.5(EDA):c.959A>G (p.Tyr320Cys)	Hypohidrotic X-linked ectodermal dysplasia [RCV005199082]	likely pathogenic	X	70035392	70035392	Human	1	name
597931170	CV3863181	single nucleotide variant	NM_001399.5(EDA):c.562C>T (p.Pro188Ser)	Hypohidrotic X-linked ectodermal dysplasia [RCV005206707]	uncertain significance	X	70027892	70027892	Human	1	name
616938598	CV4015063	deletion	NM_001399.5(EDA):c.1066del (p.Ala356fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV005412080]	likely pathogenic	X	70035498	70035498	Human	1	name
8602618	CV40564	single nucleotide variant	NM_001399.5(EDA):c.826C>T (p.Arg276Cys)	Ectodermal dysplasia [RCV000626808]\|Hypohidrotic X-linked ectodermal dysplasia [RCV000024599]\|not provided [RCV002262574]	pathogenic\|likely pathogenic	X	70033430	70033430	Human	3	name
12893959	CV411449	single nucleotide variant	NM_001399.5(EDA):c.764G>A (p.Gly255Asp)	Hypohidrotic X-linked ectodermal dysplasia [RCV003522980]\|not provided [RCV000480945]	likely pathogenic	X	70030491	70030491	Human	1	name
12893327	CV411450	single nucleotide variant	NM_001399.5(EDA):c.917A>G (p.Gln306Arg)	not provided [RCV000478625]	likely pathogenic	X	70033521	70033521	Human		name
12894733	CV411451	single nucleotide variant	NM_001399.5(EDA):c.923A>G (p.Glu308Gly)	not provided [RCV000483933]	likely pathogenic	X	70033527	70033527	Human		name
12906798	CV415810	single nucleotide variant	NM_001399.5(EDA):c.931T>C (p.Tyr311His)	Inborn genetic diseases [RCV005328282]\|not provided [RCV000489664]\|not specified [RCV003479140]	likely pathogenic\|uncertain significance	X	70035364	70035364	Human	1	name
12913307	CV422505	single nucleotide variant	NM_001399.5(EDA):c.922G>T (p.Glu308Ter)	not provided [RCV000493660]	pathogenic	X	70033526	70033526	Human		name
13480213	CV446737	single nucleotide variant	NM_001399.5(EDA):c.646C>T (p.Pro216Ser)	Hypohidrotic X-linked ectodermal dysplasia [RCV001212052]\|not provided [RCV000521166]	likely pathogenic\|uncertain significance	X	70027976	70027976	Human	1	name
13489865	CV446738	single nucleotide variant	NM_001399.5(EDA):c.998C>G (p.Thr333Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV002295301]\|not provided [RCV000524024]	pathogenic\|likely pathogenic\|uncertain significance	X	70035431	70035431	Human	1	name
13468667	CV471669	single nucleotide variant	NM_001399.5(EDA):c.479G>A (p.Ser160Asn)	Hypohidrotic X-linked ectodermal dysplasia [RCV000559389]	pathogenic\|uncertain significance	X	69957109	69957109	Human	1	name
13464924	CV471956	single nucleotide variant	NM_001399.5(EDA):c.476G>C (p.Arg159Thr)	Hypohidrotic X-linked ectodermal dysplasia [RCV000544580]	likely pathogenic\|uncertain significance	X	69957106	69957106	Human	1	name
13501315	CV471960	single nucleotide variant	NM_001399.5(EDA):c.814A>G (p.Asn272Asp)	Hypohidrotic X-linked ectodermal dysplasia [RCV000540530]	uncertain significance	X	70033418	70033418	Human	1	name
13500452	CV472186	single nucleotide variant	NM_001399.5(EDA):c.628G>T (p.Gly210Ter)	Hypohidrotic X-linked ectodermal dysplasia [RCV000536911]	pathogenic	X	70027958	70027958	Human	1	name
13467639	CV472187	single nucleotide variant	NM_001399.5(EDA):c.970G>A (p.Val324Met)	Hypohidrotic X-linked ectodermal dysplasia [RCV000555399]	pathogenic\|uncertain significance	X	70035403	70035403	Human	1	name
8607009	CV53358	single nucleotide variant	NM_001399.5(EDA):c.329C>A (p.Ser110Ter)	Hypohidrotic X-linked ectodermal dysplasia [RCV000037167]	pathogenic	X	69616637	69616637	Human	1	name
8607010	CV53359	single nucleotide variant	NM_001399.5(EDA):c.347T>A (p.Leu116Ter)	Hypohidrotic X-linked ectodermal dysplasia [RCV000037168]	pathogenic	X	69616655	69616655	Human	1	name
8607011	CV53360	single nucleotide variant	NM_001399.5(EDA):c.457C>T (p.Arg153Cys)	Anhidrotic ectodermal dysplasia [RCV003478983]\|Hypohidrotic X-linked ectodermal dysplasia [RCV000592238]\|not provided [RCV000420111]	pathogenic\|likely pathogenic	X	69957087	69957087	Human	3	name
8607012	CV53361	single nucleotide variant	NM_001399.5(EDA):c.467G>T (p.Arg156Leu)	Hypohidrotic X-linked ectodermal dysplasia [RCV000037172]	pathogenic\|likely pathogenic	X	69957097	69957097	Human	1	name
8607013	CV53362	single nucleotide variant	NM_001399.5(EDA):c.491A>C (p.Glu164Ala)	Hypohidrotic X-linked ectodermal dysplasia [RCV000990855]\|not specified [RCV000037173]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	69957121	69957121	Human	1	name
8607019	CV53368	single nucleotide variant	NM_001399.5(EDA):c.599C>A (p.Pro200Gln)	not specified [RCV000037179]	uncertain significance	X	70027929	70027929	Human		name
8607021	CV53370	single nucleotide variant	NM_001399.5(EDA):c.607C>T (p.Pro203Ser)	Hypohidrotic X-linked ectodermal dysplasia [RCV000037181]	likely pathogenic\|conflicting interpretations of pathogenicity	X	70027937	70027937	Human	1	name
8607023	CV53372	single nucleotide variant	NM_001399.5(EDA):c.730C>T (p.Arg244Ter)	EDA-related disorder [RCV003904912]\|Hypohidrotic X-linked ectodermal dysplasia [RCV000037183]\|not provided [RCV000255016]	pathogenic	X	70029527	70029527	Human	1	name , alternate_id
8607024	CV53373	single nucleotide variant	NM_001399.5(EDA):c.740A>G (p.Gln247Arg)	not specified [RCV000037184]	uncertain significance	X	70029537	70029537	Human		name
8607026	CV53375	single nucleotide variant	NM_001399.5(EDA):c.793G>A (p.Asp265Asn)	not specified [RCV000037186]	uncertain significance	X	70030520	70030520	Human		name
8607027	CV53376	single nucleotide variant	NM_001399.5(EDA):c.822G>T (p.Trp274Cys)	Hypohidrotic X-linked ectodermal dysplasia [RCV000037187]	likely pathogenic	X	70033426	70033426	Human	1	name
8607029	CV53378	single nucleotide variant	NM_001399.5(EDA):c.871G>A (p.Gly291Arg)	Anhidrotic ectodermal dysplasia [RCV003398602]\|Hypohidrotic X-linked ectodermal dysplasia [RCV000037189]\|not provided [RCV000256153]	pathogenic	X	70033475	70033475	Human	3	name
8607030	CV53379	single nucleotide variant	NM_001399.5(EDA):c.881A>T (p.Glu294Val)	Hypohidrotic X-linked ectodermal dysplasia [RCV002513473]\|not specified [RCV000037190]	likely pathogenic\|uncertain significance	X	70033485	70033485	Human	1	name
8607031	CV53380	single nucleotide variant	NM_001399.5(EDA):c.895G>A (p.Gly299Ser)	Hypohidrotic X-linked ectodermal dysplasia [RCV000037191]\|Hypohidrotic X-linked ectodermal dysplasia [RCV004795956]\|not provided [RCV001778676]	pathogenic\|likely pathogenic	X	70033499	70033499	Human	1	name
8607033	CV53382	single nucleotide variant	NM_001399.5(EDA):c.902A>G (p.Tyr301Cys)	Hypohidrotic X-linked ectodermal dysplasia [RCV000037193]	likely pathogenic	X	70033506	70033506	Human	1	name
8607034	CV53383	single nucleotide variant	NM_001399.5(EDA):c.961G>T (p.Glu321Ter)	EDA-related disorder [RCV003904913]\|Hypohidrotic X-linked ectodermal dysplasia [RCV000037194]\|not provided [RCV004700307]	pathogenic\|likely pathogenic	X	70035394	70035394	Human	1	name , alternate_id
13616444	CV534909	single nucleotide variant	NM_001399.5(EDA):c.613A>T (p.Ile205Phe)	Hypohidrotic X-linked ectodermal dysplasia [RCV000633507]	uncertain significance	X	70027943	70027943	Human	1	name
13616448	CV534933	single nucleotide variant	NM_001399.5(EDA):c.301C>T (p.Pro101Ser)	Hypohidrotic X-linked ectodermal dysplasia [RCV000633509]	uncertain significance	X	69616609	69616609	Human	1	name
13616442	CV535053	single nucleotide variant	NM_001399.5(EDA):c.853A>G (p.Lys285Glu)	Hypohidrotic X-linked ectodermal dysplasia [RCV000633506]	uncertain significance	X	70033457	70033457	Human	1	name
13616440	CV535054	single nucleotide variant	NM_001399.5(EDA):c.941T>C (p.Phe314Ser)	Hypohidrotic X-linked ectodermal dysplasia [RCV000633504]\|Inborn genetic diseases [RCV001266104]	uncertain significance	X	70035374	70035374	Human	2	name
13807777	CV574874	single nucleotide variant	NM_001399.5(EDA):c.641T>A (p.Met214Lys)	Hypohidrotic X-linked ectodermal dysplasia [RCV000701321]	likely pathogenic\|uncertain significance	X	70027971	70027971	Human	1	name
13816445	CV574875	single nucleotide variant	NM_001399.5(EDA):c.986T>C (p.Phe329Ser)	Hypohidrotic X-linked ectodermal dysplasia [RCV000706370]	pathogenic\|uncertain significance	X	70035419	70035419	Human	1	name
14399857	CV613835	single nucleotide variant	NM_001399.5(EDA):c.956G>A (p.Ser319Asn)	Hypohidrotic X-linked ectodermal dysplasia [RCV005092203]\|Tooth agenesis, selective, X-linked, 1 [RCV000767532]	likely pathogenic\|uncertain significance	X	70035389	70035389	Human	2	name
14710316	CV650162	single nucleotide variant	NM_001399.5(EDA):c.628G>C (p.Gly210Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV000809567]	uncertain significance	X	70027958	70027958	Human	1	name
14741160	CV650163	single nucleotide variant	NM_001399.5(EDA):c.670G>C (p.Gly224Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV000822121]	pathogenic\|uncertain significance	X	70028000	70028000	Human	1	name
14734864	CV650165	single nucleotide variant	NM_001399.5(EDA):c.995G>A (p.Cys332Tyr)	Hypohidrotic X-linked ectodermal dysplasia [RCV000802915]	likely pathogenic	X	70035428	70035428	Human	1	name
15105513	CV689535	single nucleotide variant	NM_001399.5(EDA):c.458G>A (p.Arg153His)	Hypohidrotic X-linked ectodermal dysplasia [RCV000990854]\|not provided [RCV002293495]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	69957088	69957088	Human	1	name
15104877	CV689536	single nucleotide variant	NM_001399.5(EDA):c.464G>A (p.Arg155His)	Hypohidrotic X-linked ectodermal dysplasia [RCV000870968]\|not provided [RCV003225133]	benign\|uncertain significance	X	69957094	69957094	Human	1	name
15192609	CV706296	single nucleotide variant	NM_001399.5(EDA):c.469A>G (p.Asn157Asp)	Hypohidrotic X-linked ectodermal dysplasia [RCV000955123]	benign	X	69957099	69957099	Human	1	name
21073737	CV792491	single nucleotide variant	NM_001399.5(EDA):c.961G>A (p.Glu321Lys)	Hypohidrotic X-linked ectodermal dysplasia [RCV000990856]	uncertain significance	X	70035394	70035394	Human	1	name
26912258	CV850221	single nucleotide variant	NM_001399.5(EDA):c.608C>T (p.Pro203Leu)	Hypohidrotic X-linked ectodermal dysplasia [RCV001053348]	likely pathogenic	X	70027938	70027938	Human	1	name
26898297	CV850222	single nucleotide variant	NM_001399.5(EDA):c.610G>A (p.Gly204Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV001070620]	pathogenic\|likely pathogenic	X	70027940	70027940	Human	1	name
38493996	CV929796	single nucleotide variant	NM_001399.5(EDA):c.901T>G (p.Tyr301Asp)	Hypohidrotic X-linked ectodermal dysplasia [RCV001224654]	uncertain significance	X	70033505	70033505	Human	1	name
38468366	CV939661	deletion	NM_001399.5(EDA):c.-36_47del (p.Met1fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV001213126]	pathogenic	X	69616271	69616353	Human	1	name
42723647	CV984543	single nucleotide variant	NM_001399.5(EDA):c.620G>A (p.Gly207Glu)	Hypohidrotic X-linked ectodermal dysplasia [RCV001291628]	pathogenic\|likely pathogenic	X	70027950	70027950	Human	1	name
126744554	CV1015043	single nucleotide variant	NM_001399.5(EDA):c.1152G>T (p.Arg384Ser)	Hypohidrotic X-linked ectodermal dysplasia [RCV001314954]	likely pathogenic\|uncertain significance	X	70035585	70035585	Human	1	name
127252428	CV1065489	single nucleotide variant	NM_001399.5(EDA):c.1009G>T (p.Glu337Ter)	Hypohidrotic X-linked ectodermal dysplasia [RCV001385708]	pathogenic	X	70035442	70035442	Human	1	name
127252432	CV1065490	single nucleotide variant	NM_001399.5(EDA):c.1067C>A (p.Ala356Asp)	Hypohidrotic X-linked ectodermal dysplasia [RCV001385709]\|not provided [RCV003313222]	pathogenic\|likely pathogenic	X	70035500	70035500	Human	1	name
127290201	CV1159796	single nucleotide variant	NM_001399.5(EDA):c.1124A>G (p.Lys375Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV001509711]	benign	X	70035557	70035557	Human	1	name
150334747	CV1166479	single nucleotide variant	NM_001399.5(EDA):c.1150A>G (p.Arg384Gly)	not provided [RCV001531159]	likely pathogenic	X	70035583	70035583	Human		name
151714178	CV1234184	single nucleotide variant	NM_001399.5(EDA):c.1136T>C (p.Phe379Ser)	Hypohidrotic X-linked ectodermal dysplasia [RCV001843310]	pathogenic	X	70035569	70035569	Human	1	name
151348325	CV1323988	single nucleotide variant	NM_001399.5(EDA):c.1174T>C (p.Ter392Gln)	Hypohidrotic X-linked ectodermal dysplasia [RCV001807899]	likely pathogenic	X	70035607	70035607	Human	1	name
151710145	CV1372293	single nucleotide variant	NM_001399.5(EDA):c.1045G>T (p.Ala349Ser)	Hypohidrotic X-linked ectodermal dysplasia [RCV001964125]	likely pathogenic	X	70035478	70035478	Human	1	name
151734981	CV1435419	single nucleotide variant	NM_001399.5(EDA):c.1163C>A (p.Ala388Asp)	Hypohidrotic X-linked ectodermal dysplasia [RCV001946463]	uncertain significance	X	70035596	70035596	Human	1	name
151715677	CV1445511	single nucleotide variant	NM_001399.5(EDA):c.1093G>A (p.Val365Met)	Hypohidrotic X-linked ectodermal dysplasia [RCV002002883]\|Hypohidrotic X-linked ectodermal dysplasia [RCV002497951]	likely pathogenic	X	70035526	70035526	Human	1	name
151752938	CV1508853	single nucleotide variant	NM_001399.5(EDA):c.1048G>T (p.Gly350Cys)	Hypohidrotic X-linked ectodermal dysplasia [RCV002043477]	likely pathogenic	X	70035481	70035481	Human	1	name
152126932	CV1596319	single nucleotide variant	NM_001399.5(EDA):c.1099G>A (p.Ala367Thr)	Hypohidrotic X-linked ectodermal dysplasia [RCV002118581]	likely benign	X	70035532	70035532	Human	1	name
155744381	CV1773108	single nucleotide variant	NM_001399.5(EDA):c.1022C>T (p.Thr341Ile)	Hypohidrotic X-linked ectodermal dysplasia [RCV002303122]	uncertain significance	X	70035455	70035455	Human	1	name
156349566	CV1878292	single nucleotide variant	NM_001399.5(EDA):c.1091T>C (p.Met364Thr)	Hypohidrotic X-linked ectodermal dysplasia [RCV003064735]	pathogenic	X	70035524	70035524	Human	1	name
156382754	CV1878293	single nucleotide variant	NM_001399.5(EDA):c.1119G>A (p.Met373Ile)	Hypohidrotic X-linked ectodermal dysplasia [RCV003050619]	pathogenic	X	70035552	70035552	Human	1	name
156317868	CV2161589	single nucleotide variant	NM_001399.5(EDA):c.1075A>G (p.Lys359Glu)	Hypohidrotic X-linked ectodermal dysplasia [RCV003046413]	uncertain significance	X	70035508	70035508	Human	1	name
156360439	CV2162491	single nucleotide variant	NM_001399.5(EDA):c.1036T>C (p.Cys346Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV003031527]	likely pathogenic	X	70035469	70035469	Human	1	name
156083550	CV2184331	single nucleotide variant	NM_001399.5(EDA):c.1119G>T (p.Met373Ile)	Hypohidrotic X-linked ectodermal dysplasia [RCV003054113]	pathogenic	X	70035552	70035552	Human	1	name
11096266	CV231295	single nucleotide variant	NM_001399.5(EDA):c.1001G>C (p.Arg334Pro)	not specified [RCV000223353]	uncertain significance	X	70035434	70035434	Human		name
11089476	CV231296	single nucleotide variant	NM_001399.5(EDA):c.1067C>T (p.Ala356Val)	Hypohidrotic X-linked ectodermal dysplasia [RCV000809933]	pathogenic\|likely pathogenic	X	70035500	70035500	Human	1	name
11531353	CV247466	single nucleotide variant	NM_001399.5(EDA):c.1001G>A (p.Arg334His)	Hypohidrotic X-linked ectodermal dysplasia [RCV000864637]\|Hypohidrotic X-linked ectodermal dysplasia [RCV002494688]\|See cases [RCV002252063]\|Tooth agenesis, selective, X-linked, 1 [RCV000239557]\|not provided [RCV001573758]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity	X	70035434	70035434	Human	2	name
11559987	CV260340	single nucleotide variant	NM_001399.5(EDA):c.1069C>T (p.Arg357Trp)	EDA-related disorder [RCV004730918]\|Hypohidrotic X-linked ectodermal dysplasia [RCV000532383]\|See cases [RCV004584376]\|not provided [RCV000255432]	pathogenic\|likely pathogenic\|uncertain significance	X	70035502	70035502	Human	1	name , alternate_id
8598652	CV26079	single nucleotide variant	NM_001399.5(EDA):c.1045G>A (p.Ala349Thr)	Hypohidrotic X-linked ectodermal dysplasia [RCV000011787]\|not provided [RCV000255050]	pathogenic	X	70035478	70035478	Human	1	name
8598655	CV26084	single nucleotide variant	NM_001399.5(EDA):c.1072C>G (p.Gln358Glu)	Tooth agenesis, selective, X-linked, 1 [RCV000011792]	pathogenic	X	70035505	70035505	Human	1	name
8598656	CV26087	single nucleotide variant	NM_001399.5(EDA):c.1013C>T (p.Thr338Met)	Hypohidrotic X-linked ectodermal dysplasia [RCV001205829]\|Hypohidrotic X-linked ectodermal dysplasia [RCV005049332]\|Tooth agenesis, selective, X-linked, 1 [RCV000011795]	pathogenic	X	70035446	70035446	Human	2	name
401828895	CV2744757	single nucleotide variant	NM_001399.5(EDA):c.1112T>A (p.Ile371Asn)	Hypohidrotic X-linked ectodermal dysplasia [RCV003328131]	uncertain significance	X	70035545	70035545	Human	1	name
405053449	CV2881026	single nucleotide variant	NM_001399.5(EDA):c.1000C>T (p.Arg334Cys)	Hypohidrotic X-linked ectodermal dysplasia [RCV003522345]	benign	X	70035433	70035433	Human	1	name
405057758	CV2923066	single nucleotide variant	NM_001399.5(EDA):c.1029C>G (p.Tyr343Ter)	Hypohidrotic X-linked ectodermal dysplasia [RCV003522713]	pathogenic	X	70035462	70035462	Human	1	name
405058428	CV2929617	single nucleotide variant	NM_001399.5(EDA):c.1066G>A (p.Ala356Thr)	Hypohidrotic X-linked ectodermal dysplasia [RCV003522745]	likely pathogenic	X	70035499	70035499	Human	1	name
405181451	CV2968837	single nucleotide variant	NM_001399.5(EDA):c.1012A>G (p.Thr338Ala)	Hypohidrotic X-linked ectodermal dysplasia [RCV003639696]	likely pathogenic	X	70035445	70035445	Human	1	name
405183008	CV2982803	single nucleotide variant	NM_001399.5(EDA):c.1111A>T (p.Ile371Phe)	Hypohidrotic X-linked ectodermal dysplasia [RCV003639895]	uncertain significance	X	70035544	70035544	Human	1	name
405184883	CV3000307	single nucleotide variant	NM_001399.5(EDA):c.1010A>T (p.Glu337Val)	Hypohidrotic X-linked ectodermal dysplasia [RCV003640104]	likely benign	X	70035443	70035443	Human	1	name
405184336	CV3002242	single nucleotide variant	NM_001399.5(EDA):c.1144G>T (p.Ala382Ser)	Hypohidrotic X-linked ectodermal dysplasia [RCV003640043]	likely benign	X	70035577	70035577	Human	1	name
405654661	CV3228290	single nucleotide variant	NM_001399.5(EDA):c.1166C>T (p.Pro389Leu)	not specified [RCV003995025]	uncertain significance	X	70035599	70035599	Human		name
407574029	CV3498378	single nucleotide variant	NM_001399.5(EDA):c.1027T>C (p.Tyr343His)	not specified [RCV004702853]	uncertain significance	X	70035460	70035460	Human		name
408380534	CV3501188	single nucleotide variant	NM_001399.5(EDA):c.1081G>A (p.Ala361Thr)	not provided [RCV004727276]	uncertain significance	X	70035514	70035514	Human		name
596923434	CV3530419	single nucleotide variant	NM_001399.5(EDA):c.1038C>G (p.Cys346Trp)	not provided [RCV004777018]	likely pathogenic	X	70035471	70035471	Human		name
596927213	CV3536524	single nucleotide variant	NM_001399.5(EDA):c.1073A>G (p.Gln358Arg)	Hypohidrotic X-linked ectodermal dysplasia [RCV004789933]	uncertain significance	X	70035506	70035506	Human	1	name
596927357	CV3541056	duplication	NM_001399.5(EDA):c.99_100dup (p.Ala34fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV004796926]	pathogenic	X	69616405	69616406	Human	1	name
12742222	CV360703	single nucleotide variant	NM_001399.5(EDA):c.1123A>G (p.Lys375Glu)	not provided [RCV000413158]\|not specified [RCV004525926]	likely pathogenic\|uncertain significance	X	70035556	70035556	Human		name
598124596	CV3885279	single nucleotide variant	NM_001399.5(EDA):c.1152G>C (p.Arg384Ser)	not specified [RCV005239856]	uncertain significance	X	70035585	70035585	Human		name
616934421	CV4012424	single nucleotide variant	NM_001399.5(EDA):c.1069C>G (p.Arg357Gly)	not specified [RCV005409461]	uncertain significance	X	70035502	70035502	Human		name
12895561	CV411452	single nucleotide variant	NM_001399.5(EDA):c.1137C>A (p.Phe379Leu)	not provided [RCV000486913]	likely pathogenic	X	70035570	70035570	Human		name
12893914	CV411453	single nucleotide variant	NM_001399.5(EDA):c.1144G>A (p.Ala382Thr)	Hypohidrotic X-linked ectodermal dysplasia [RCV001851133]\|not provided [RCV000480786]	likely pathogenic	X	70035577	70035577	Human	1	name
13537321	CV497807	single nucleotide variant	NM_001399.5(EDA):c.1127A>G (p.His376Arg)	not specified [RCV000610250]	uncertain significance	X	70035560	70035560	Human		name
8607002	CV53350	single nucleotide variant	NM_001399.5(EDA):c.1070G>C (p.Arg357Pro)	not specified [RCV000037159]	uncertain significance	X	70035503	70035503	Human		name
8607003	CV53351	single nucleotide variant	NM_001399.5(EDA):c.1087A>G (p.Lys363Glu)	not specified [RCV000037160]	uncertain significance	X	70035520	70035520	Human		name
8607004	CV53352	single nucleotide variant	NM_001399.5(EDA):c.1094T>C (p.Val365Ala)	EDA-related disorder [RCV004545739]\|Hypodontia [RCV000037161]\|Hypohidrotic X-linked ectodermal dysplasia [RCV000542700]\|Hypohidrotic X-linked ectodermal dysplasia [RCV005049406]\|Inborn genetic diseases [RCV000624502]\|Tooth agenesis, selective, X-linked, 1 [RCV00 ... (more) 3485530]\|not provided [RCV001577971]	pathogenic\|likely pathogenic	X	70035527	70035527	Human	7	name , alternate_id
8607005	CV53353	single nucleotide variant	NM_001399.5(EDA):c.1151G>C (p.Arg384Thr)	not specified [RCV000037162]	uncertain significance	X	70035584	70035584	Human		name
13616450	CV535055	single nucleotide variant	NM_001399.5(EDA):c.1070G>A (p.Arg357Gln)	Hypohidrotic X-linked ectodermal dysplasia [RCV000633510]	benign	X	70035503	70035503	Human	1	name
13812086	CV575440	single nucleotide variant	NM_001399.5(EDA):c.1106T>A (p.Ile369Asn)	Hypohidrotic X-linked ectodermal dysplasia [RCV000689230]	uncertain significance	X	70035539	70035539	Human	1	name
13818005	CV575441	single nucleotide variant	NM_001399.5(EDA):c.1133C>T (p.Thr378Met)	Hypohidrotic X-linked ectodermal dysplasia [RCV000707398]	pathogenic	X	70035566	70035566	Human	1	name
15168182	CV706298	single nucleotide variant	NM_001399.5(EDA):c.1168G>A (p.Ala390Thr)	Hypohidrotic X-linked ectodermal dysplasia [RCV000949205]\|Inborn genetic diseases [RCV002548240]	likely benign\|uncertain significance	X	70035601	70035601	Human	2	name
21073738	CV792492	single nucleotide variant	NM_001399.5(EDA):c.1142G>A (p.Gly381Glu)	Hypohidrotic X-linked ectodermal dysplasia [RCV000990857]	likely pathogenic	X	70035575	70035575	Human	1	name
26914862	CV850223	single nucleotide variant	NM_001399.5(EDA):c.1116C>G (p.Asn372Lys)	Hypohidrotic X-linked ectodermal dysplasia [RCV001040957]	pathogenic\|likely pathogenic	X	70035549	70035549	Human	1	name
38473584	CV951866	single nucleotide variant	NM_001399.5(EDA):c.1176G>C (p.Ter392Tyr)	Hypohidrotic X-linked ectodermal dysplasia [RCV001237730]\|not provided [RCV003145458]	likely pathogenic\|uncertain significance	X	70035609	70035609	Human	1	name
9691146	CV176310	duplication	NM_001399.4(EDA):c.(?_397)-340_(496_?)dup	Hypohidrotic X-linked ectodermal dysplasia [RCV000156854]	likely pathogenic\|uncertain significance	X	69956687	69957126	Human	1	name
9687751	CV176433	deletion	NM_001399.4(EDA):c.(?_397-304)_(460_?)del	Hypohidrotic X-linked ectodermal dysplasia [RCV000150589]	pathogenic	X	69956723	69957090	Human	1	name
9690837	CV176445	duplication	NM_001399.5(EDA):c.132_135dup (p.Phe46fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV000156531]	pathogenic	X	69616438	69616439	Human	1	name
11088537	CV231287	deletion	NM_001399.5(EDA):c.648_683del (p.Pro219_Gly230del)	EDA-related disorder [RCV004754361]\|Hypohidrotic X-linked ectodermal dysplasia [RCV000213703]\|not provided [RCV000479152]	pathogenic\|likely pathogenic	X	70027973	70028008	Human	1	alternate_id
405292365	CV3200051	duplication	NM_001399.5(EDA):c.396+53496_396+53498dup	EDA-related disorder [RCV003964475]	likely benign	X	69670183	69670184	Human		name , trait , alternate_id
405278608	CV3220348	duplication	NM_001399.5(EDA):c.396+53494_396+53498dup	EDA-related disorder [RCV003976574]	likely benign	X	69670183	69670184	Human		name , trait , alternate_id
405272380	CV3221742	duplication	NM_001399.5(EDA):c.396+53493_396+53498dup	EDA-related disorder [RCV003972161]	likely benign	X	69670183	69670184	Human		name , trait , alternate_id
408383236	CV3504990	indel	NM_001399.5(EDA):c.318_320delinsAAGCA (p.Gly107fs)	EDA-related disorder [RCV004730519]	likely pathogenic	X	69616626	69616628	Human		trait , alternate_id
8607018	CV53367	deletion	NC_000023.11:g.70027902_70027919del	EDA-related disorder [RCV003904911]\|Hypohidrotic X-linked ectodermal dysplasia [RCV000633503]\|Tooth agenesis, selective, X-linked, 1 [RCV005252710]\|not provided [RCV000481357]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	X	70027889	70027906	Human	2	alternate_id
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
401927212	CV2829160	single nucleotide variant	NM_021783.5(EDA2R):c.*97A>T	not provided [RCV003438440]	likely benign	X	66598007	66598007	Human		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
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
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 , 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
28881842	CV863969	single nucleotide variant	NM_145861.4(EDARADD):c.*12T>C	Hypohidrotic ectodermal dysplasia [RCV001096997]	uncertain significance	1	236482661	236482661	Human	2	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
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
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
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
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
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
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
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
8587572	CV122203	single nucleotide variant	NM_021783.3(EDA2R):c.-11+6480T>G	Lung cancer [RCV000102723]	uncertain significance	X	66632515	66632515	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
11582393	CV283646	microsatellite	NM_022336.4(EDAR):c.*1888GAGT[1]	Hypohidrotic Ectodermal Dysplasia, Dominant [RCV000259723]	likely benign	2	108895012	108895015	Human		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
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
11663918	CV280004	deletion	NM_145861.4(EDARADD):c.351_352del	Hypohidrotic Ectodermal Dysplasia, Recessive [RCV000400334]	uncertain significance	1	236482999	236483000	Human	1	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
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
597882711	CV3784142	indel	NM_001399.5(EDA):c.585_706+6delinsTCCTCCTGGTCC	Hypohidrotic X-linked ectodermal dysplasia [RCV005124430]	pathogenic	X	70027915	70028042	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 , alternate_id
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
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
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
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 , alternate_id
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	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
15167742	CV706287	variation	NM_021783.5(EDA2R):c.385= (p.Thr129=)	not provided [RCV000949116]	benign	X	66602765	66602765	Human		name
15203271	CV706288	single nucleotide variant	NM_021783.5(EDA2R):c.79C>T (p.Leu27=)	not provided [RCV000958321]	benign	X	66615942	66615942	Human		name
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
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
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
15163723	CV706289	single nucleotide variant	NM_021783.5(EDA2R):c.22T>C (p.Tyr8His)	not provided [RCV000948158]	benign	X	66615999	66615999	Human		name
15156170	CV729681	single nucleotide variant	NM_021783.5(EDA2R):c.135T>A (p.Pro45=)	not provided [RCV000880570]	likely benign	X	66605179	66605179	Human		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
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
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
155965729	CV2330603	single nucleotide variant	NM_021783.5(EDA2R):c.59G>A (p.Arg20Gln)	not specified [RCV004183199]	likely benign	X	66615962	66615962	Human		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
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
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
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
405767063	CV3248183	single nucleotide variant	NM_021783.5(EDA2R):c.44G>A (p.Cys15Tyr)	not specified [RCV004384476]	uncertain significance	X	66615977	66615977	Human		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
8570527	CV48190	deletion	NM_021783.5(EDA2R):c.253del (p.Asp85fs)	Hypohidrotic X-linked ectodermal dysplasia [RCV000032791]	uncertain significance	X	66605061	66605061	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
15131880	CV743439	single nucleotide variant	NM_021783.5(EDA2R):c.660C>T (p.Asp220=)	not provided [RCV000897855]	likely benign	X	66599718	66599718	Human		name
15188217	CV743440	single nucleotide variant	NM_021783.5(EDA2R):c.378G>A (p.Glu126=)	not provided [RCV000909305]	likely benign	X	66602772	66602772	Human		name
15178804	CV774171	single nucleotide variant	NM_021783.5(EDA2R):c.726G>A (p.Glu242=)	not provided [RCV000929485]	benign	X	66599652	66599652	Human		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
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
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
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
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
156034069	CV2256598	single nucleotide variant	NM_021783.5(EDA2R):c.275G>A (p.Arg92Gln)	not specified [RCV004118787]	likely benign	X	66604498	66604498	Human		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
156188553	CV2395472	single nucleotide variant	NM_021783.5(EDA2R):c.283C>T (p.Arg95Cys)	not specified [RCV004241338]	uncertain significance	X	66604490	66604490	Human		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
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
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
401898989	CV2785919	single nucleotide variant	NM_021783.5(EDA2R):c.232A>C (p.Thr78Pro)	not specified [RCV004365434]	uncertain significance	X	66605082	66605082	Human		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
405767057	CV3248182	single nucleotide variant	NM_021783.5(EDA2R):c.134C>T (p.Pro45Leu)	not specified [RCV004384475]	uncertain significance	X	66605180	66605180	Human		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
596924825	CV3540396	deletion	NM_021783.5(EDA2R):c.620del (p.Asn207fs)	Hypodontia [RCV004794724]	likely pathogenic	X	66599758	66599758	Human	3	name
597803251	CV3667396	single nucleotide variant	NM_021783.5(EDA2R):c.173G>A (p.Cys58Tyr)	not specified [RCV004907124]	uncertain significance	X	66605141	66605141	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
15118474	CV746305	single nucleotide variant	NM_145861.4(EDARADD):c.246C>T (p.Ser82=)	not provided [RCV000917982]	likely benign	1	236468257	236468257	Human		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
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
155983392	CV2240726	single nucleotide variant	NM_021783.5(EDA2R):c.605C>T (p.Ser202Phe)	not specified [RCV004119345]	uncertain significance	X	66599773	66599773	Human		name
155926841	CV2345274	single nucleotide variant	NM_021783.5(EDA2R):c.823G>T (p.Gly275Trp)	not provided [RCV003435936]\|not specified [RCV004196009]	likely benign\|uncertain significance	X	66599555	66599555	Human		name
156180001	CV2356057	single nucleotide variant	NM_021783.5(EDA2R):c.640C>T (p.Leu214Phe)	not specified [RCV004203474]	uncertain significance	X	66599738	66599738	Human		name
155999787	CV2396475	single nucleotide variant	NM_021783.5(EDA2R):c.713C>A (p.Ser238Tyr)	not specified [RCV004242185]	uncertain significance	X	66599665	66599665	Human		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
405767069	CV3248184	single nucleotide variant	NM_021783.5(EDA2R):c.602A>G (p.Glu201Gly)	not specified [RCV004384477]	uncertain significance	X	66599776	66599776	Human		name
405767074	CV3248185	single nucleotide variant	NM_021783.5(EDA2R):c.685C>T (p.Pro229Ser)	not specified [RCV004384478]	uncertain significance	X	66599693	66599693	Human		name
405767081	CV3248186	single nucleotide variant	NM_021783.5(EDA2R):c.728G>A (p.Ser243Asn)	not specified [RCV004384479]	uncertain significance	X	66599650	66599650	Human		name
405767087	CV3248187	single nucleotide variant	NM_021783.5(EDA2R):c.823G>C (p.Gly275Arg)	not specified [RCV004384480]	likely benign	X	66599555	66599555	Human		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
597736036	CV3667397	single nucleotide variant	NM_021783.5(EDA2R):c.655G>A (p.Glu219Lys)	not specified [RCV004920571]	uncertain significance	X	66599723	66599723	Human		name
597736043	CV3667398	single nucleotide variant	NM_021783.5(EDA2R):c.356C>T (p.Ala119Val)	not specified [RCV004920572]	uncertain significance	X	66602794	66602794	Human		name
597803253	CV3667399	single nucleotide variant	NM_021783.5(EDA2R):c.835G>A (p.Val279Ile)	not specified [RCV004907125]	uncertain significance	X	66599543	66599543	Human		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
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
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
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
616938965	CV4015292	single nucleotide variant	NM_022336.4(EDAR):c.1018G>C (p.Val340Leu)	not provided [RCV005412801]	likely pathogenic	2	108906314	108906314	Human		name
8637915	CV93141	single nucleotide variant	NM_021783.3(EDA2R):c.749G>A (p.Ser250Asn)	Malignant melanoma [RCV000073239]	not provided	X	66599629	66599629	Human		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
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

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