ClinVar for MedGen (Select 57890) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25796811.	NM_001399.5(EDA):c.1112T>A (p.Ile371Asn) GRCh37: ChrX:69255395 GRCh38: ChrX:70035545	EDA	I366N, I369N, I371N	Hypohidrotic X-linked ectodermal dysplasia	Uncertain significance	no assertion criteria provided
Select item 25796752.	NM_001399.5(EDA):c.191del (p.Leu64fs) GRCh37: ChrX:68836342 GRCh38: ChrX:69616498	EDA	L64fs	Hypohidrotic X-linked ectodermal dysplasia	Likely pathogenic	no assertion criteria provided
Select item 25791233.	NM_001399.5(EDA):c.706G>A (p.Gly236Ser) GRCh37: ChrX:69247886 GRCh38: ChrX:70028036	EDA	G236S	Hypohidrotic X-linked ectodermal dysplasia	Likely pathogenic (Jul 1, 2023)	criteria provided, single submitter
Select item 25034164.	NM_001399.5(EDA):c.760C>T (p.Gln254Ter) GRCh37: ChrX:69250337 GRCh38: ChrX:70030487	EDA	Q254*	Hypohidrotic X-linked ectodermal dysplasia	Pathogenic (Apr 1, 2023)	no assertion criteria provided
Select item 24444035.	NM_001399.5(EDA):c.52_53insTGCGA (p.Arg18fs) GRCh37: ChrX:68836204-68836205 GRCh38: ChrX:69616360-69616361	EDA	R18fs	Hypohidrotic X-linked ectodermal dysplasia	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24319556.	NM_001399.5(EDA):c.634A>G (p.Thr212Ala) GRCh37: ChrX:69247814 GRCh38: ChrX:70027964	EDA	T212A	Hypohidrotic X-linked ectodermal dysplasia	Uncertain significance (Nov 19, 2022)	criteria provided, single submitter
Select item 24313587.	NM_001399.5(EDA):c.4delinsAT (p.Gly2fs) GRCh37: ChrX:68836156 GRCh38: ChrX:69616312	EDA	G2fs	Hypohidrotic X-linked ectodermal dysplasia	Likely pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 24241618.	NC_000023.10:g.(?_69176857)_(69255459_?)del GRCh37: ChrX:69176857-69255459	EDA		Hypohidrotic X-linked ectodermal dysplasia	Pathogenic (Jun 20, 2022)	criteria provided, single submitter
Select item 24241609.	NC_000023.10:g.(?_68836153)_(68836568_?)del GRCh37: ChrX:68836153-68836568	EDA		Hypohidrotic X-linked ectodermal dysplasia	Pathogenic (Sep 9, 2022)	criteria provided, single submitter
Select item 241702310.	NM_001399.5(EDA):c.826C>G (p.Arg276Gly) GRCh37: ChrX:69253280 GRCh38: ChrX:70033430	EDA	R273G, R276G	Hypohidrotic X-linked ectodermal dysplasia	Likely pathogenic (Aug 6, 2022)	criteria provided, single submitter
Select item 241317811.	NM_001399.5(EDA):c.286del (p.Leu96fs) GRCh37: ChrX:68836437 GRCh38: ChrX:69616593	EDA	L96fs	Hypohidrotic X-linked ectodermal dysplasia	Pathogenic	criteria provided, single submitter
Select item 219880612.	NM_001399.5(EDA):c.42A>G (p.Ala14=) GRCh37: ChrX:68836194 GRCh38: ChrX:69616350	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 219880513.	NM_001399.5(EDA):c.39T>C (p.Pro13=) GRCh37: ChrX:68836191 GRCh38: ChrX:69616347	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 218838814.	NM_001399.5(EDA):c.354G>A (p.Pro118=) GRCh37: ChrX:68836506 GRCh38: ChrX:69616662	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 216467315.	NM_001399.5(EDA):c.198G>C (p.Ser66=) GRCh37: ChrX:68836350 GRCh38: ChrX:69616506	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 216164416.	NM_001399.5(EDA):c.36G>A (p.Leu12=) GRCh37: ChrX:68836188 GRCh38: ChrX:69616344	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 216113017.	NM_001399.5(EDA):c.867C>T (p.Arg289=) GRCh37: ChrX:69253321 GRCh38: ChrX:70033471	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 216002418.	NM_001399.5(EDA):c.387C>G (p.Asp129Glu) GRCh37: ChrX:68836539 GRCh38: ChrX:69616695	EDA	D129E	Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 214854719.	NM_001399.5(EDA):c.28G>C (p.Glu10Gln) GRCh37: ChrX:68836180 GRCh38: ChrX:69616336	EDA	E10Q	Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 214621820.	NM_001399.5(EDA):c.793+19del GRCh37: ChrX:69250389 GRCh38: ChrX:70030539	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 214614521.	NM_001399.5(EDA):c.1068C>T (p.Ala356=) GRCh37: ChrX:69255351 GRCh38: ChrX:70035501	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 213859822.	NM_001399.5(EDA):c.1119G>A (p.Met373Ile) GRCh37: ChrX:69255402 GRCh38: ChrX:70035552	EDA	M373I, M368I, M371I	Hypohidrotic X-linked ectodermal dysplasia	Pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 213859723.	NM_001399.5(EDA):c.1091T>C (p.Met364Thr) GRCh37: ChrX:69255374 GRCh38: ChrX:70035524	EDA	M359T, M364T, M362T	Hypohidrotic X-linked ectodermal dysplasia	Pathogenic (May 12, 2022)	criteria provided, single submitter
Select item 213859624.	NM_001399.5(EDA):c.917A>C (p.Gln306Pro) GRCh37: ChrX:69253371 GRCh38: ChrX:70033521	EDA	Q303P, Q306P	Hypohidrotic X-linked ectodermal dysplasia	Pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 213859525.	NM_001399.5(EDA):c.836T>G (p.Met279Arg) GRCh37: ChrX:69253290 GRCh38: ChrX:70033440	EDA	M276R, M279R	Hypohidrotic X-linked ectodermal dysplasia	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 213859426.	NM_001399.5(EDA):c.58C>T (p.Arg20Ter) GRCh37: ChrX:68836210 GRCh38: ChrX:69616366	EDA	R20*	Hypohidrotic X-linked ectodermal dysplasia	Pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 212257127.	NM_001399.5(EDA):c.1119G>T (p.Met373Ile) GRCh37: ChrX:69255402 GRCh38: ChrX:70035552	EDA	M373I, M368I, M371I	Hypohidrotic X-linked ectodermal dysplasia	Pathogenic (May 20, 2022)	criteria provided, single submitter
Select item 211816828.	NM_001399.5(EDA):c.607C>G (p.Pro203Ala) GRCh37: ChrX:69247787 GRCh38: ChrX:70027937	EDA	P203A	Hypohidrotic X-linked ectodermal dysplasia	Likely pathogenic (Mar 27, 2022)	criteria provided, single submitter
Select item 211642029.	NM_001399.5(EDA):c.1167T>G (p.Pro389=) GRCh37: ChrX:69255450 GRCh38: ChrX:70035600	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 211535330.	NM_001399.5(EDA):c.1075A>G (p.Lys359Glu) GRCh37: ChrX:69255358 GRCh38: ChrX:70035508	EDA	K357E, K359E, K354E	Hypohidrotic X-linked ectodermal dysplasia	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 211376931.	NM_001399.5(EDA):c.97C>A (p.Arg33=) GRCh37: ChrX:68836249 GRCh38: ChrX:69616405	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 211311232.	NM_001399.5(EDA):c.90C>A (p.Ala30=) GRCh37: ChrX:68836242 GRCh38: ChrX:69616398	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 210938433.	NM_001399.5(EDA):c.889_898del (p.Val297fs) GRCh37: ChrX:69253343-69253352 GRCh38: ChrX:70033493-70033502	EDA	V294fs, V297fs	Hypohidrotic X-linked ectodermal dysplasia	Pathogenic (Mar 20, 2022)	criteria provided, single submitter
Select item 210808834.	NM_001399.5(EDA):c.886C>T (p.Leu296=) GRCh37: ChrX:69253340 GRCh38: ChrX:70033490	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 210472835.	NM_001399.5(EDA):c.1036T>C (p.Cys346Arg) GRCh37: ChrX:69255319 GRCh38: ChrX:70035469	EDA	C344R, C341R, C346R	Hypohidrotic X-linked ectodermal dysplasia	Likely pathogenic (Apr 30, 2022)	criteria provided, single submitter
Select item 209883936.	NM_001399.5(EDA):c.805G>A (p.Gly269Arg) GRCh37: ChrX:69253259 GRCh38: ChrX:70033409	EDA	G269R, G266R	Hypohidrotic X-linked ectodermal dysplasia	Likely pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 209396037.	NM_001399.5(EDA):c.959A>C (p.Tyr320Ser) GRCh37: ChrX:69255242 GRCh38: ChrX:70035392	EDA	Y320S, Y315S, Y318S	Hypohidrotic X-linked ectodermal dysplasia	Likely pathogenic (Feb 6, 2022)	criteria provided, single submitter
Select item 208306638.	NM_001399.5(EDA):c.753G>T (p.Val251=) GRCh37: ChrX:69250330 GRCh38: ChrX:70030480	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 207343439.	NM_001399.5(EDA):c.611G>A (p.Gly204Glu) GRCh37: ChrX:69247791 GRCh38: ChrX:70027941	EDA	G204E	Hypohidrotic X-linked ectodermal dysplasia	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 207210240.	NM_001399.5(EDA):c.218G>C (p.Gly73Ala) GRCh37: ChrX:68836370 GRCh38: ChrX:69616526	EDA	G73A	Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 206849241.	NM_001399.5(EDA):c.11C>G (p.Pro4Arg) GRCh37: ChrX:68836163 GRCh38: ChrX:69616319	EDA	P4R	Hypohidrotic X-linked ectodermal dysplasia	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 205539942.	NM_001399.5(EDA):c.658C>G (p.Pro220Ala) GRCh37: ChrX:69247838 GRCh38: ChrX:70027988	EDA	P220A	Hypohidrotic X-linked ectodermal dysplasia	Likely pathogenic (Oct 24, 2022)	criteria provided, single submitter
Select item 203080243.	NM_001399.5(EDA):c.827G>C (p.Arg276Pro) GRCh37: ChrX:69253281 GRCh38: ChrX:70033431	EDA	R273P, R276P	Hypohidrotic X-linked ectodermal dysplasia	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 202658044.	NM_001399.5(EDA):c.466_467delinsTC (p.Arg156Ser) GRCh37: ChrX:69176946-69176947 GRCh38: ChrX:69957096-69957097	EDA	R156S	Hypohidrotic X-linked ectodermal dysplasia	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 202454445.	NM_001399.5(EDA):c.1144del (p.Ala382fs) GRCh37: ChrX:69255424 GRCh38: ChrX:70035574	EDA	A380fs, A382fs, A377fs	Hypohidrotic X-linked ectodermal dysplasia	Pathogenic (Sep 30, 2022)	criteria provided, single submitter
Select item 201684146.	NM_001399.5(EDA):c.872G>T (p.Gly291Val) GRCh37: ChrX:69253326 GRCh38: ChrX:70033476	EDA	G288V, G291V	Hypohidrotic X-linked ectodermal dysplasia	Likely pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 201569047.	NM_001399.5(EDA):c.564A>G (p.Pro188=) GRCh37: ChrX:69247744 GRCh38: ChrX:70027894	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 201303648.	NM_001399.5(EDA):c.924+20T>G GRCh37: ChrX:69253398 GRCh38: ChrX:70033548	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 201260349.	NM_001399.5(EDA):c.928T>G (p.Tyr310Asp) GRCh37: ChrX:69255211 GRCh38: ChrX:70035361	EDA	Y305D, Y310D, Y308D	Hypohidrotic X-linked ectodermal dysplasia	Likely pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 200969150.	NM_001399.5(EDA):c.793+10A>G GRCh37: ChrX:69250380 GRCh38: ChrX:70030530	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 200856351.	NM_001399.5(EDA):c.397-6T>C GRCh37: ChrX:69176871 GRCh38: ChrX:69957021	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 200774552.	NM_001399.5(EDA):c.540A>G (p.Gly180=) GRCh37: ChrX:69247720 GRCh38: ChrX:70027870	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 199536353.	NM_001399.5(EDA):c.552C>A (p.Pro184=) GRCh37: ChrX:69247732 GRCh38: ChrX:70027882	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 197486954.	NM_001399.5(EDA):c.904T>C (p.Phe302Leu) GRCh37: ChrX:69253358 GRCh38: ChrX:70033508	EDA	F299L, F302L	Hypohidrotic X-linked ectodermal dysplasia	Pathogenic (Jan 6, 2022)	criteria provided, single submitter
Select item 197186855.	NM_001399.5(EDA):c.759A>T (p.Leu253=) GRCh37: ChrX:69250336 GRCh38: ChrX:70030486	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 194809956.	NM_001399.5(EDA):c.924+8C>T GRCh37: ChrX:69253386 GRCh38: ChrX:70033536	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 194696957.	NM_001399.5(EDA):c.215G>A (p.Arg72His) GRCh37: ChrX:68836367 GRCh38: ChrX:69616523	EDA	R72H	Hypohidrotic X-linked ectodermal dysplasia	Benign (Mar 23, 2022)	criteria provided, single submitter
Select item 191831958.	NM_001399.5(EDA):c.871G>C (p.Gly291Arg) GRCh37: ChrX:69253325 GRCh38: ChrX:70033475	EDA	G288R, G291R	Hypohidrotic X-linked ectodermal dysplasia	Pathogenic (Feb 19, 2022)	criteria provided, single submitter
Select item 191268559.	NM_001399.5(EDA):c.106G>A (p.Glu36Lys) GRCh37: ChrX:68836258 GRCh38: ChrX:69616414	EDA	E36K	Hypohidrotic X-linked ectodermal dysplasia	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 190916260.	NM_001399.5(EDA):c.873G>A (p.Gly291=) GRCh37: ChrX:69253327 GRCh38: ChrX:70033477	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 180396661.	NM_001399.5(EDA):c.865del (p.Arg289fs) GRCh37: ChrX:69253316 GRCh38: ChrX:70033466	EDA	R286fs, R289fs	Hypohidrotic X-linked ectodermal dysplasia	Pathogenic (Mar 2, 2021)	criteria provided, single submitter
Select item 171383762.	NM_001399.5(EDA):c.1022C>T (p.Thr341Ile) GRCh37: ChrX:69255305 GRCh38: ChrX:70035455	EDA	T336I, T339I, T341I	Hypohidrotic X-linked ectodermal dysplasia	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 170987163.	NM_001399.5(EDA):c.533_544del (p.Lys178_Pro182delinsThr) GRCh37: ChrX:69247713-69247724 GRCh38: ChrX:70027863-70027874	EDA		Hypohidrotic X-linked ectodermal dysplasia	Uncertain significance (Jul 26, 2021)	criteria provided, single submitter
Select item 170806464.	NM_001399.5(EDA):c.130del (p.Leu44fs) GRCh37: ChrX:68836281 GRCh38: ChrX:69616437	EDA	L44fs	Hypohidrotic X-linked ectodermal dysplasia	Likely pathogenic (Jul 26, 2022)	criteria provided, single submitter
Select item 170372765.	NM_001399.5(EDA):c.837G>A (p.Met279Ile) GRCh37: ChrX:69253291 GRCh38: ChrX:70033441	EDA	M276I, M279I	Hypohidrotic X-linked ectodermal dysplasia	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 167940066.	NM_001399.5(EDA):c.706+1G>C GRCh37: ChrX:69247887 GRCh38: ChrX:70028037	EDA		Hypohidrotic X-linked ectodermal dysplasia	Pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 167273067.	NM_001399.5(EDA):c.714T>C (p.Ala238=) GRCh37: ChrX:69249361 GRCh38: ChrX:70029511	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Sep 15, 2021)	criteria provided, single submitter
Select item 167187268.	NM_001399.5(EDA):c.321G>A (p.Gly107=) GRCh37: ChrX:68836473 GRCh38: ChrX:69616629	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Jul 7, 2021)	criteria provided, single submitter
Select item 166805769.	NM_001399.5(EDA):c.717T>G (p.Asp239Glu) GRCh37: ChrX:69249364 GRCh38: ChrX:70029514	EDA	D239E	Inborn genetic diseases, Hypohidrotic X-linked ectodermal dysplasia	Conflicting interpretations of pathogenicity (Aug 12, 2021)	criteria provided, conflicting interpretations
Select item 166644170.	NM_001399.5(EDA):c.777A>G (p.Ala259=) GRCh37: ChrX:69250354 GRCh38: ChrX:70030504	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Jun 12, 2021)	criteria provided, single submitter
Select item 166573671.	NM_001399.5(EDA):c.669T>G (p.Pro223=) GRCh37: ChrX:69247849 GRCh38: ChrX:70027999	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 166555572.	NM_001399.5(EDA):c.990G>A (p.Leu330=) GRCh37: ChrX:69255273 GRCh38: ChrX:70035423	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 166283073.	NM_001399.5(EDA):c.588C>A (p.Pro196=) GRCh37: ChrX:69247768 GRCh38: ChrX:70027918	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Dec 18, 2020)	criteria provided, single submitter
Select item 165440774.	NM_001399.5(EDA):c.249C>T (p.Thr83=) GRCh37: ChrX:68836401 GRCh38: ChrX:69616557	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Nov 21, 2020)	criteria provided, single submitter
Select item 164986175.	NM_001399.5(EDA):c.988C>T (p.Leu330=) GRCh37: ChrX:69255271 GRCh38: ChrX:70035421	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Jan 19, 2021)	criteria provided, single submitter
Select item 163351276.	NM_001399.5(EDA):c.732A>T (p.Arg244=) GRCh37: ChrX:69249379 GRCh38: ChrX:70029529	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Aug 4, 2021)	criteria provided, single submitter
Select item 162979677.	NM_001399.5(EDA):c.1099G>A (p.Ala367Thr) GRCh37: ChrX:69255382 GRCh38: ChrX:70035532	EDA	A362T, A365T, A367T	Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 162175778.	NM_001399.5(EDA):c.1035T>C (p.Thr345=) GRCh37: ChrX:69255318 GRCh38: ChrX:70035468	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Oct 5, 2021)	criteria provided, single submitter
Select item 162025779.	NM_001399.5(EDA):c.925-6A>G GRCh37: ChrX:69255202 GRCh38: ChrX:70035352	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Dec 3, 2021)	criteria provided, single submitter
Select item 161517980.	NM_001399.5(EDA):c.744A>G (p.Pro248=) GRCh37: ChrX:69250321 GRCh38: ChrX:70030471	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Apr 14, 2022)	criteria provided, single submitter
Select item 160921881.	NM_001399.5(EDA):c.48G>A (p.Ala16=) GRCh37: ChrX:68836200 GRCh38: ChrX:69616356	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Oct 9, 2021)	criteria provided, single submitter
Select item 160308582.	NM_001399.5(EDA):c.111G>A (p.Gly37=) GRCh37: ChrX:68836263 GRCh38: ChrX:69616419	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Sep 15, 2021)	criteria provided, single submitter
Select item 159782783.	NM_001399.5(EDA):c.56A>C (p.Glu19Ala) GRCh37: ChrX:68836208 GRCh38: ChrX:69616364	EDA	E19A	Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 157663184.	NM_001399.5(EDA):c.771G>A (p.Gly257=) GRCh37: ChrX:69250348 GRCh38: ChrX:70030498	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 157099485.	NM_001399.5(EDA):c.924+9G>C GRCh37: ChrX:69253387 GRCh38: ChrX:70033537	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Feb 18, 2021)	criteria provided, single submitter
Select item 156834486.	NM_001399.5(EDA):c.546T>G (p.Pro182=) GRCh37: ChrX:69247726 GRCh38: ChrX:70027876	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Jun 24, 2021)	criteria provided, single submitter
Select item 156664487.	NM_001399.5(EDA):c.879G>A (p.Leu293=) GRCh37: ChrX:69253333 GRCh38: ChrX:70033483	EDA		Hypohidrotic X-linked ectodermal dysplasia	Benign (Oct 25, 2021)	criteria provided, single submitter
Select item 155593388.	NM_001399.5(EDA):c.808G>A (p.Val270Met) GRCh37: ChrX:69253262 GRCh38: ChrX:70033412	EDA	V267M, V270M	Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 155251289.	NM_001399.5(EDA):c.66C>T (p.Ser22=) GRCh37: ChrX:68836218 GRCh38: ChrX:69616374	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Nov 13, 2021)	criteria provided, single submitter
Select item 155237290.	NM_001399.5(EDA):c.111G>C (p.Gly37=) GRCh37: ChrX:68836263 GRCh38: ChrX:69616419	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Feb 4, 2021)	criteria provided, single submitter
Select item 155176591.	NM_001399.5(EDA):c.1170A>G (p.Ala390=) GRCh37: ChrX:69255453 GRCh38: ChrX:70035603	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Nov 2, 2020)	criteria provided, single submitter
Select item 154288992.	NM_001399.5(EDA):c.195C>A (p.Arg65=) GRCh37: ChrX:68836347 GRCh38: ChrX:69616503	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Mar 22, 2021)	criteria provided, single submitter
Select item 153963293.	NM_001399.5(EDA):c.707-5T>C GRCh37: ChrX:69249349 GRCh38: ChrX:70029499	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 153730394.	NM_001399.5(EDA):c.527-7T>C GRCh37: ChrX:69247700 GRCh38: ChrX:70027850	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Feb 25, 2021)	criteria provided, single submitter
Select item 153690595.	NM_001399.5(EDA):c.345A>T (p.Pro115=) GRCh37: ChrX:68836497 GRCh38: ChrX:69616653	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Aug 16, 2021)	criteria provided, single submitter
Select item 152934696.	NM_001399.5(EDA):c.684C>T (p.Pro228=) GRCh37: ChrX:69247864 GRCh38: ChrX:70028014	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely benign (Feb 2, 2021)	criteria provided, single submitter
Select item 152051597.	NM_001399.5(EDA):c.935T>C (p.Ile312Thr) GRCh37: ChrX:69255218 GRCh38: ChrX:70035368	EDA	I307T, I312T, I310T	Hypohidrotic X-linked ectodermal dysplasia	Likely pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 151846098.	NM_001399.5(EDA):c.1048G>T (p.Gly350Cys) GRCh37: ChrX:69255331 GRCh38: ChrX:70035481	EDA	G348C, G350C, G345C	Hypohidrotic X-linked ectodermal dysplasia	Likely pathogenic (Aug 30, 2021)	criteria provided, single submitter
Select item 149142799.	NM_001399.5(EDA):c.958T>G (p.Tyr320Asp) GRCh37: ChrX:69255241 GRCh38: ChrX:70035391	EDA	Y320D, Y318D, Y315D	Hypohidrotic X-linked ectodermal dysplasia	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 1485476100.	NM_001399.5(EDA):c.794-1G>A GRCh37: ChrX:69253247 GRCh38: ChrX:70033397	EDA		Hypohidrotic X-linked ectodermal dysplasia	Likely pathogenic (Sep 2, 2021)	criteria provided, single submitter

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